msigdb_hp/result.tsv

Term	es	nes	pval	sidak	fdr	geneset_size	leading_edge	leading_edge_size
Peripheral demyelination	0.7617692139931284	2.775560230115638	0.0055106691227491	0.9999999999878274	0.6254681659545941	16	Q9NR77,P00846	2
Coxa vara	0.8207128196286954	2.702389667390466	0.0068843028459497	0.9999999999999774	0.6254681659545941	12	O75718,O95831	2
Distal muscle weakness	0.5174759211551078	2.697596450485044	0.0069842049215538	0.9999999999999856	0.6254681659545941	62	Q9Y4W6,P00846,P36551,Q9NR77,Q9BQT8,O95831,Q99720,P35637,P41440,P39210	10
Abnormality of the calf	0.5568267646952079	2.673266803981054	0.0075116481481876	0.9999999999999988	0.6254681659545941	55	O75718,Q9NR77,Q13126,O95831,Q32P28,Q96HY6	6
Bulbar signs	0.7753487827283589	2.6162024557658987	0.0088913820320355	1.0	0.6254681659545941	13	Q99720,P03915,P00846	3
Aplasia hypoplasia involving the pelvis	0.8232777137705228	2.592019988320102	0.0095414227771608	1.0	0.6254681659545941	11	Q96HY6,O95831	2
Abnormality of skull ossification	0.79725809096701	2.591729742016486	0.009549475666043	1.0	0.6254681659545941	12	Q32P28,O75844,P54802,O75718	4
Aplasia hypoplasia involving the femoral head and neck	0.9098871179492942	2.5850624798062367	0.0097361352557938	1.0	0.6254681659545941	7	O95831	1
Abnormality of hepatobiliary system physiology	0.4926176740060506	2.5769551847441496	0.0099674872688613	1.0	0.6254681659545941	77	P00846,P03915,Q8TCJ2,Q9Y619,Q10713,P22695,O15118,P22830,O43772,O75381,O15460,P23786,P28288,Q8N511,P55263,P39210,P46100,Q16625	18
Amyotrophic lateral sclerosis	0.732128021860688	2.5758965150894273	0.0099980564450368	1.0	0.6254681659545941	15	Q96CV9,Q15165,Q92804,Q99720,P35637,P22626,P50995	7
Abnormal muscle fiber morphology	0.4773983853991941	2.5492147321286835	0.0107965799670037	1.0	0.6254681659545941	67	P61978,Q9Y4W6,P00846,P03915,Q9H173,Q9HA77,Q9BTV4,Q70HW3,O95831,Q99720,P09651,P23786,P35637,Q8NI60,O43676,P22626,P06753,P50402	18
Abnormal oral physiology	0.5567157510930301	2.5388542172315054	0.0111216155401159	1.0	0.6254681659545941	52	Q96CV9,Q92796,Q9NR77,Q15165,P49959,P34897,Q15233,O15460,Q92804,P09651,P35637,Q14739,Q6UN15,P06753,P50995,P46100	16
Hypothermia	0.8297956256621083	2.499719981751406	0.0124291505762306	1.0	0.6254681659545941	10	P00846,O43772	2
Episodic vomiting	0.772170004426424	2.4717176747246494	0.0134465661801785	1.0	0.6254681659545941	12	P61978,P03915,Q9Y619,P00846,P22695	5
Abnormality of salivation	0.595655008948247	2.470894793417534	0.013477546232091	1.0	0.6254681659545941	40	Q96CV9,Q92796,Q9NR77,Q15165,P49959,P34897,Q15233,Q92804,P09651,P35637,Q14739,P50995,P46100	13
Xerostomia	0.7174372881143873	2.460557316324783	0.0138721412233258	1.0	0.6259866942077634	14	Q96CV9,Q15165,Q92804,P35637,Q14739,P50995	6
Delayed cranial suture closure	0.6185398765098665	2.447151556952055	0.0143990277188776	1.0	0.6259866942077634	28	O75718,O75381,Q32P28,O75844,P36543	5
Segmental peripheral demyelination remyelination	0.9556942784091952	2.4266584421249897	0.0152385947495803	1.0	0.6307179461215094	5	Q9NR77,P00846	2
Fatigable weakness of bulbar muscles	0.7108232640425386	2.4257871323204765	0.0152752269591844	1.0	0.6307179461215094	14	Q96CV9,Q15165,Q92804,P35637,P06753,P50995	6
Demyelinating peripheral neuropathy	0.6873845513574631	2.4192051123828637	0.015554466689899	1.0	0.6307179461215094	17	Q13217,P03915,P00846,Q9NR77,P41440	5
Ectrodactyly	0.7030795297503937	2.384901338546856	0.0170837023112713	1.0	0.6504128284577543	14	Q9NR77,Q99720,Q9H3P2	3
Dicarboxylic aciduria	0.6125259978561428	2.3812299482650485	0.0172549371666557	1.0	0.6504128284577543	24	P48735,O43772	2
Abnormal circulating dicarboxylic acid concentration	0.5789097586382973	2.3679721207586413	0.0178858836177155	1.0	0.6504128284577543	41	P36551,P22695,P37268,P23786,P28288,Q14739,P41440,P55263,P48735	9
Bowing of the legs	0.5648088587783509	2.3622950018894144	0.0181621831603713	1.0	0.6504128284577543	45	O75718,Q9NR77,Q13126,Q32P28,Q96HY6	5
Lacticaciduria	0.9377832337570348	2.3582206846545346	0.0183627729003181	1.0	0.6504128284577543	5	Q9BQT8,P00846	2
Foot dorsiflexor weakness	0.5941636633792851	2.309908304733877	0.0208932311989118	1.0	0.6791510964230028	31	Q9NR77,Q99720,Q9BQT8,Q14739	4
Profound global developmental delay	0.6883220443658434	2.306455920262307	0.0210851704433692	1.0	0.6791510964230028	14	Q9GZY8,P46100,O75381,P37268	4
Muscle stiffness	0.6224420784321667	2.306082062524414	0.0211060473935302	1.0	0.6791510964230028	22	P00846,Q9H173,Q15392,P23786,P53985	5
Contractures of the joints of the upper limbs	0.4526347366750292	2.2993317492731835	0.0214861082768584	1.0	0.6791510964230028	66	Q9NR77,P37268,Q15392,Q99720,P23786,P35637,O75844,P42892,P98172	9
Abnormality of femur morphology	0.4571165969739949	2.2799018399341393	0.0226135109206211	1.0	0.6791510964230028	65	O75718,Q9H173,O95831,Q32P28,Q96HY6,Q14739,O75844,P46100	8
Abnormal femoral neck morphology	0.5774444358635226	2.2754153942413593	0.0228810227623694	1.0	0.6791510964230028	37	O75718,Q9H173,O95831,Q96HY6,O75844,P46100	6
Intellectual disability progressive	0.7313495629065837	2.2727698640220497	0.023040051989871	1.0	0.6791510964230028	12	P46100,O95831	2
Mitochondrial respiratory chain defects	0.9105706128825236	2.2532150910993103	0.024245590334007	1.0	0.6791510964230028	5	P00846,Q4J6C6	2
Round face	0.6578048765108019	2.252644638768887	0.0242815641673552	1.0	0.6791510964230028	17	O75718	1
Fatigable weakness of respiratory muscles	0.7025648750451692	2.24935283009585	0.0244900571269508	1.0	0.6791510964230028	13	Q96CV9,Q15165,Q92804,P35637,P50995	5
Abnormal upper motor neuron morphology	0.8098820499559314	2.2341679974081523	0.0254720212804555	1.0	0.6895640046637612	8	Q99720	1
Abnormal diaphysis morphology	0.474644184353511	2.217613316560223	0.0265812091384261	1.0	0.7054548036142394	61	Q9NX62,Q9Y619,O75718,P07237,Q9NR77,P48651,Q13126,Q32P28,Q96HY6,Q9NSE4,Q14739,P46100	12
Wide cranial sutures	0.8196477421380832	2.210693048358495	0.0270571002553186	1.0	0.7054548036142394	7	O75718	1
Talipes calcaneovalgus	0.8979858450680169	2.2042370843398316	0.0275076750099116	1.0	0.7054548036142394	5	Q9NR77,P46100	2
Upper airway obstruction	0.8952362511339983	2.193501163577233	0.0282712908467785	1.0	0.7054548036142394	5	Q96HY6	1
Hammertoe	0.6458478197092998	2.184452533839785	0.0289290115483737	1.0	0.7150496984891522	17	Q9NR77,Q99720,P39210	3
Vertebral compression fracture	0.6501046870439797	2.1686140180046753	0.0301120000254129	1.0	0.722195414910141	16	Q32P28,O75718	2
Rhizomelia	0.7559839489055556	2.165367264938617	0.0303595708670494	1.0	0.722195414910141	10	Q14739,Q15392,O75718	3
Fatigable weakness of swallowing muscles	0.7088069553099653	2.160946398263186	0.0306994802089912	1.0	0.722195414910141	12	Q96CV9,Q15165,Q92804,P35637,P50995	5
Wormian bones	0.6260098912689123	2.15912124859446	0.0308407615699533	1.0	0.722195414910141	19	Q32P28,O75718,O95831	3
Ragged red muscle fibers	0.6480719914931176	2.1571774550703156	0.0309918403885791	1.0	0.722195414910141	16	P03915,P00846,O95831	3
Abnormal neuron morphology	0.5760209682210414	2.1455975223135813	0.0319051032981385	1.0	0.722195414910141	26	Q15165,Q99720,P35637,Q92804	4
Tinnitus	0.6524445483242797	2.1454101337474603	0.0319200695781196	1.0	0.722195414910141	15	Q9NR77,O95831,Q969G3	3
Head tremor	0.6824558198534363	2.145253424834332	0.0319325901677216	1.0	0.722195414910141	13	Q99720,P35637	2
Toe walking	0.6049311351880841	2.135649315168258	0.032708008567613	1.0	0.722195414910141	21	Q8TD16,O95831,Q99720,P35637,Q9BTV4,P50402	6
Supranuclear gaze palsy	0.6496770407244735	2.130087375867626	0.0331644003688753	1.0	0.722195414910141	15	Q99720,P35637	2
Toxemia of pregnancy	0.8395630882274732	2.1291913680045336	0.0332384307842308	1.0	0.722195414910141	6	O43772	1
Disproportionate short limb short stature	0.6356372661506495	2.125831042938433	0.0335173302379365	1.0	0.722195414910141	17	Q14696,O75718,Q15392,Q32P28,Q14739,Q9UBM7	6
Abnormal morphology of the musculature of the neck	0.7006591067557237	2.120188431325228	0.033990157638098	1.0	0.722195414910141	12	Q99720	1
Abnormal circulating fatty acid concentration	0.6173031278179858	2.1069176431367427	0.0351247190001842	1.0	0.722195414910141	19	P56589,P23786,O43772,O75381	4
Motor neuron atrophy	0.5986540201539099	2.096239837755261	0.0360609206396353	1.0	0.722195414910141	21	Q15165,Q99720,P35637,Q92804	4
Postural instability	0.6226678566061282	2.092780134508064	0.0363687859530446	1.0	0.722195414910141	18	Q9NR77	1
Abnormal circulating citrulline concentration	0.8647871801053881	2.0737821684211792	0.0380995459601061	1.0	0.722195414910141	5	P03915,P00846	2
Dolichocephaly	0.5631403345769083	2.0536222584815103	0.0400122661172253	1.0	0.722195414910141	25	P61978,P56589,Q4J6C6,Q03164,O75381,Q9H3P2,P46100	7
Bilateral sensorineural hearing impairment	0.561634312145453	2.0468762696702822	0.0406702346162863	1.0	0.722195414910141	26	Q13217,P03915,Q15067,P38159,Q96GW9,Q9NSE4,P35637	7
Metaphyseal striations	0.8579047004629808	2.0465134049406757	0.040705884964181	1.0	0.722195414910141	5	Q13126	1
Cough	0.5607854786934436	2.0410224616869455	0.0412485945199188	1.0	0.722195414910141	26	Q9NR77,P35610,O15460,P41440	4
Abnormality of the pulmonary veins	0.8180097049047635	2.0404888349678414	0.0413016619538662	1.0	0.722195414910141	6	O75718	1
Multiple prenatal fractures	0.7776343904990699	2.0306916012332645	0.0422862888706336	1.0	0.722195414910141	7	Q32P28,Q14696,Q14739,O75718	4
Abnormal circulating bilirubin concentration	0.558827475573848	2.0275072494864497	0.0426105638117084	1.0	0.722195414910141	26	P36551,P23786,P28288,Q14739,P41440,P55263	6
Abnormal epiphyseal ossification	0.6300758462158167	2.020863325230743	0.0432939153165348	1.0	0.722195414910141	15	Q96HY6,O75381,Q14739,Q9UBM7	4
Spondyloepimetaphyseal dysplasia	0.8493594112821166	2.012551316968139	0.0441618528916674	1.0	0.722195414910141	5	O95831	1
Inverted nipples	0.7445990243637566	2.011346816169231	0.0442888367265155	1.0	0.722195414910141	9	P61978,P56589,Q15067,Q96AA3	4
Aplasia hypoplasia of the femur	0.6790456164646853	2.0112074937235462	0.0443035445822184	1.0	0.722195414910141	12	O95831	1
Abnormal circulating non proteinogenic amino acid concentration	0.7696983448486185	1.9962900511878192	0.0459023603322641	1.0	0.7274004696555306	7	P03915,P00846	2
Cutaneous photosensitivity	0.564117242413136	1.9915976249538905	0.0464152241826918	1.0	0.7310970140245997	23	P50336,Q06136,P36551,P22830,P37268,Q9UBM7,Q15126	7
Abnormal circulating long chain fatty acid concentration	0.843776866066958	1.990301916231546	0.0465576870606976	1.0	0.7310970140245997	5	P23786,O75381	2
Shawl scrotum	0.8055630177530702	1.9888856929807697	0.0467138212875348	1.0	0.7310970140245997	6	P46100,Q9Y619,P98172	3
Tremor by anatomical site	0.5519597143806272	1.9768434151967225	0.0480593325324809	1.0	0.7434484501963381	25	Q9Y4W6,Q9NR77,Q99720,P35637,Q96KR1	5
Muscle fiber atrophy	0.5943436556649884	1.9679449682528936	0.0490743699946252	1.0	0.7565770669001882	19	P61978,Q9BTV4,Q99720,P23786,P35637,P22626,P50402	7
Abnormal femoral neck head morphology	0.5157218597931754	1.9657261843447809	0.049330248483582	1.0	0.7579526017004428	45	O75718,Q9H173,O95831,Q96HY6,Q14739,O75844,P46100	7
Neurogenic bladder	0.799030308176079	1.961692231566596	0.0497983268210699	1.0	0.7625683177852738	6	P50336,P56589	2
Sensorimotor neuropathy	0.5430048536091698	1.9556388830791311	0.0505077090293648	1.0	0.7672955985829032	32	Q13217,Q9Y4W6,P00846,P03915,Q9NR77,O95831,P41440,P39210	8
Head titubation	0.7972710167570388	1.954356166538854	0.0506591107317053	1.0	0.7672955985829032	6	Q99720	1
Abnormal larynx physiology	0.6459549761515574	1.9533184156450096	0.050781876687215	1.0	0.7672955985829032	13	Q96CV9,Q15165,Q92804,P35637,P50995	5
Abnormal circulating lipid concentration	0.4279436683476313	1.9352239063449357	0.0529628253291432	1.0	0.7686352438138014	73	P56589,P34913,Q9BTV4,Q9Y4I1,O43772,P37268,O75381,P28070,P22830,Q15392,P23786,Q9UBM7,Q14739,Q8N511,O75844,P50402	16
Abnormal circulating acetylcarnitine concentration	0.7553919390311039	1.933959256336212	0.0531181375201446	1.0	0.7686352438138014	7	P23786,O43772	2
Micromelia	0.5730569339051511	1.9339536109516389	0.0531188316843254	1.0	0.7686352438138014	21	O75718,Q15392,Q96HY6,Q14739,P48735	5
Abnormality of krebs cycle metabolism	0.7915154709891081	1.9303186744754492	0.0535673645820042	1.0	0.7686352438138014	6	P00846	1
Agitation	0.5374531085040117	1.9250463708412924	0.054223557289474	1.0	0.7686352438138014	33	P35610,Q15165,Q92804,P35637,P42892	5
Neck muscle weakness	0.6404938167057408	1.92427971195562	0.0543195321959282	1.0	0.7686352438138014	13	Q99720,P35637,Q9BTV4	3
Retinal telangiectasia	0.7893840885700656	1.9214026816903271	0.0546809607290803	1.0	0.7686352438138014	6	P00846	1
Abnormal csf protein level	0.6819853411306643	1.921078748446556	0.0547217803623527	1.0	0.7686352438138014	11	Q9NR77,P03915	2
Abnormal peripheral myelination	0.540247756416019	1.9189247517756631	0.0549938576355666	1.0	0.7686352438138014	30	Q9NR77,P03915,P00846	3
Barrel shaped chest	0.903902083512583	1.9153310570194704	0.0554502972986061	1.0	0.7686352438138014	4	Q32P28	1
Macrovesicular hepatic steatosis	0.7506500098376768	1.9132111995761585	0.0557210203348013	1.0	0.7686352438138014	7	P23786	1
Ulnar claw	0.824276371592036	1.9122023677678908	0.0558502425414786	1.0	0.7686352438138014	5	Q9NR77	1
Psychosis	0.5609600615162441	1.910748056343248	0.0560369658631541	1.0	0.7686352438138014	22	P50336,Q5JRX3,P03915,P36551,O15118,Q6DKK2,Q8WVX9	7
Anarthria	0.7495937587513303	1.9085837133928512	0.0563158145727729	1.0	0.7686352438138014	7	Q99720	1
Limb dystonia	0.6587173101032663	1.9075854446506253	0.0564448178614305	1.0	0.7686352438138014	12	Q99720,P35637	2
Abnormal circulating porphyrin concentration	0.901377604393813	1.905738802774811	0.0566841022754256	1.0	0.7688541528520862	4	P50336,P22830	2
Severe muscular hypotonia	0.5382866807743536	1.9048321758421445	0.0568018899204707	1.0	0.7688541528520862	30	P56589,Q8TD16,Q9HA77,O75381,O95831,Q00577,Q9NWM8,Q9GZY8,Q01105	9
Premature graying of hair	0.7343833871330911	1.9019154068753068	0.0571822146528537	1.0	0.771705377570264	8	Q13126	1
Ketoacidosis	0.7194481379675917	1.896832682094698	0.0578500244143023	1.0	0.7738291501066086	9	P53985	1
Impaired pain sensation	0.5819867389045551	1.8923817715767908	0.0584401329494568	1.0	0.7794302775780928	19	Q9NR77,P39210,O95831	3
Abnormal astrocyte morphology	0.6104486760029593	1.881214042988488	0.0599428082033668	1.0	0.7814968308172898	14	P48735,P00846,O95831	3
Abnormal delivery	0.5633073492364664	1.8714927213918129	0.0612768178002209	1.0	0.7814968308172898	21	Q9Y619,O75718,Q9UBM7,Q96EY7,O75844	5
Proximal muscle weakness	0.4187915849004391	1.8672606885462464	0.0618651922774038	1.0	0.7844060661813456	65	P50336,P00846,P36551,Q8TD16,Q9BQT8,Q13126,Q99720,P17252,P35637,Q8NI60,Q8NAT1,P50402	12
Limb muscle weakness	0.4289699684439206	1.8668845118838175	0.0619177171853788	1.0	0.7844060661813456	79	P50336,P00846,P36551,Q9NR77,Q9BQT8,Q13126,Q15067,Q99720,Q14739,P39210,P50402,Q969G3	12
Increased bone mineral density	0.5356343420713512	1.8623630300132072	0.0625519365655897	1.0	0.7902394652786174	24	P48651,Q13126,Q15392,P54802,Q14739	5
Abnormal urine ph	0.5080454748609915	1.8561453527250888	0.0634328428273112	1.0	0.7968442196463171	43	P50336,P00846,P03915,Q9BQT8,O43772,P48735	6
Action tremor	0.4787139720648684	1.8560582614764023	0.0634452541365637	1.0	0.7968442196463171	52	Q5JRX3,Q9Y4W6,P00846,P03915,Q9NR77,Q15233,Q99720,P35637,P41440	9
Recurrent fractures	0.5312856671640277	1.8481491878437637	0.06458076373961	1.0	0.8048865354282898	29	O75718,Q13126,Q32P28,P52788,P48735	5
Generalized muscle weakness	0.5303438934010778	1.8413949376524652	0.065563704129516	1.0	0.8048865354282898	29	Q15165,P35637,O95831,Q92804	4
Decreased calvarial ossification	0.8840115845908785	1.8395451296640624	0.0658350464334485	1.0	0.8048865354282898	4	O75718	1
Disproportionate short stature	0.5578774447822252	1.836556820022369	0.0662753467398098	1.0	0.8080972572993435	21	O75718,Q15392,Q32P28,Q96HY6,Q14739	5
Axonal degeneration	0.7688120694632192	1.8349511725928005	0.0665129244739577	1.0	0.8084204046309309	6	Q9BQT8	1
Abnormality of tibia morphology	0.6433170678326323	1.828385086102685	0.0674917780634127	1.0	0.8141978955766612	12	O95831	1
Osteoarthritis	0.6404576902854329	1.813615679358512	0.0697369148077324	1.0	0.8324501011694679	12	Q96HY6	1
Blurred vision	0.7982031858422813	1.8068880906024831	0.070779729815174	1.0	0.838297424998467	5	P03915,P00846	2
Titubation	0.6980866968310677	1.7985341433526685	0.0720924029976906	1.0	0.8450418784368475	9	Q99720,P35637	2
Thin ribs	0.6167981860195888	1.797355660347646	0.0722791750950544	1.0	0.8450531833735414	13	Q32P28,O75844,O95831	3
Sensory ataxia	0.8722194680798001	1.7943969602350796	0.0727498317688031	1.0	0.8483749612423502	4	Q9NR77,P54802	2
Abnormal corpus striatum morphology	0.583769087804217	1.7885180682446564	0.0736924632407385	1.0	0.8532299578783115	16	O95831	1
Brisk reflexes	0.5338903467450845	1.7882916027876743	0.0737289739327564	1.0	0.8532299578783115	23	Q5U5X0,Q10713,Q99720,P35637,Q8NI60	5
Abnormal pericardium morphology	0.6517035774501931	1.7708355748672024	0.0765880482381677	1.0	0.8751821500701656	11	P14174	1
Abnormal lower motor neuron morphology	0.7049442287058945	1.7692082638055568	0.0768591256307056	1.0	0.8751821500701656	8	Q99720	1
Postural tremor	0.5663619945686035	1.7554697781974409	0.0791789856765636	1.0	0.8913515516262662	18	Q9NR77,P03915,P00846	3
Soft skin	0.7002644372905568	1.7479604653185885	0.0804708734526493	1.0	0.8970135599574738	8	Q13126	1
Hyperconvex nail	0.7128025809005816	1.7460940630044584	0.0807946082891781	1.0	0.8984202408292966	7	P42892,Q9Y619	2
Hepatic failure	0.4722594244507461	1.7335726200389208	0.0829939420378489	1.0	0.9097012680850552	50	P00846,Q9Y619,P03915,O15118,Q10713,P22830,O43772,O75381,O15460,P23786,P28288,P39210,P46100	13
Peripheral axonal degeneration	0.4008116754448231	1.7288834994720848	0.0838299478045896	1.0	0.9097012680850552	66	Q9Y4W6,P00846,P03915,Q9BQT8,Q15067,O95831,P41440,Q6DKK2,P39210	9
Central hypoventilation	0.7087861285138906	1.7282070065640402	0.0839511180209271	1.0	0.9097012680850552	7	O75306,Q8N183,P06753	3
Slowly progressive	0.4526597845329962	1.7249077048960513	0.0845441068162045	1.0	0.9097012680850552	55	Q9NR77,Q99720,O95831	3
Hypoketotic hypoglycemia	0.7078949710195879	1.7242344978198794	0.0846655187185645	1.0	0.9097012680850552	7	P23786,O43772	2
Muscle spasm	0.4440516274393318	1.722346388716624	0.0850067891089589	1.0	0.9097012680850552	57	P00846,Q9NR77,Q15165,Q92804,P23786,P35637,P53985	7
Paresthesia	0.5234334992549577	1.7171471793153668	0.0859522837369157	1.0	0.9097012680850552	23	Q9NR77,O15460	2
Slow decrease in visual acuity	0.6803134419535467	1.7160562918103506	0.0861517399748061	1.0	0.9097012680850552	9	P03915,P00846	2
Recurrent fever	0.5654150700412205	1.713384013418758	0.0866419154018847	1.0	0.9097012680850552	17	Q9NR77,Q9Y2V7,P28070	3
Ankylosis	0.773481838908674	1.7061513589651618	0.0879799023169765	1.0	0.9097012680850552	5	O75844	1
Abnormal circulating fatty acid anion concentration	0.5979592618910096	1.6954255792109811	0.0899947169103347	1.0	0.9097012680850552	13	O43772	1
Excessive salivation	0.5112089889108398	1.6938144672327	0.0903005441075792	1.0	0.9097012680850552	26	Q92796,Q9NR77,P49959,P34897,Q15233,P46100	6
Sparse lateral eyebrow	0.7352028294441648	1.6922461259787989	0.0905990551304429	1.0	0.9097012680850552	6	P61978,Q00577,Q9Y2V7	3
Distal lower limb muscle weakness	0.5493291163405523	1.6902626648289458	0.0909777144434005	1.0	0.9097012680850552	19	Q9NR77	1
Weight loss	0.4003971178832175	1.682788771075051	0.092415989555683	1.0	0.9097012680850552	69	Q06136,P35610,O15460,Q99720,P35637,O75844,P42892,P46100	8
Aplasia hypoplasia involving the skeletal musculature	0.6338490792937866	1.681292752648961	0.092706064909803	1.0	0.9097012680850552	11	Q9NR77,Q8NAT1,Q9H173	3
Abnormal synaptic transmission at the neuromuscular junction	0.5089086726028405	1.677468447781113	0.0934509143857778	1.0	0.9097012680850552	26	Q96CV9,Q15165,Q92804,P35637,P06753,P50995	6
Distal upper limb amyotrophy	0.5942500656275751	1.6752568288314862	0.093883851831944	1.0	0.9097012680850552	13	Q9NR77	1
Fibrous tissue neoplasm	0.5465236250549383	1.6727471483619405	0.0943770832701011	1.0	0.9097012680850552	19	Q13126,Q15392	2
Slender long bone	0.6133206752327885	1.6724963551713816	0.0944264859932593	1.0	0.9097012680850552	12	Q32P28,P37268	2
Abnormal rib cage morphology	0.4030349387027621	1.671506631929529	0.0946216498650454	1.0	0.9097012680850552	72	Q14696,O75718,P07237,O95831,Q9UBM7,P98172,Q32P28,Q96HY6,P54802,Q14739,P25054,O75844,Q9H3P2,Q8TAA9,Q9Y619,P48651,Q03164,P00813,P17252	19
Hypoventilation	0.6130299625968373	1.6709756732251977	0.0947264829503966	1.0	0.9097012680850552	12	P61978,O75306,Q8N183,Q00577,P06753	5
Fluctuations in consciousness	0.6953533646110338	1.6681852592231454	0.0952789561984024	1.0	0.9097012680850552	7	P00403,P03915	2
Polyneuropathy	0.5455272493425007	1.666521087489173	0.0956096716596486	1.0	0.9097012680850552	19	P00846,O95831	2
Wide anterior fontanel	0.5233331964705568	1.6615897410136329	0.0965950617342015	1.0	0.9135968618532044	22	Q32P28,O75381,O75718	3
Abnormality of neutrophil morphology	0.7260031071457022	1.652889043945042	0.0983534473060001	1.0	0.915357563214558	6	P41440	1
Progressive muscle weakness	0.5894864852931936	1.649309098384529	0.0990843266356649	1.0	0.915357563214558	13	Q9Y606,P56589,O75381,Q9H173	4
Abnormal speech prosody	0.6781795325276243	1.6471585759813496	0.0995254557712188	1.0	0.915357563214558	8	P00846	1
Pericarditis	0.7556695635789582	1.6330811045170317	0.102451940079606	1.0	0.915357563214558	5	P14174	1
Myoclonic spasms	0.7205318159175185	1.6294265795494498	0.1032227458471053	1.0	0.915357563214558	6	P00846,Q969G3	2
Stuttering	0.8285551785030609	1.6259425720761578	0.1039618725997426	1.0	0.915357563214558	4	P03915,Q12873	2
Cyanosis	0.5437781012751963	1.6174172286582198	0.1057882492644719	1.0	0.915357563214558	18	O43772	1
Hyperventilation	0.6714439968758386	1.616250061305863	0.106040259132885	1.0	0.915357563214558	8	P03915,P00846	2
Aplasia hypoplasia of the clavicles	0.6025274829212196	1.615920263981605	0.1061115537854178	1.0	0.915357563214558	12	O75844,Q9Y619,P98172	3
Abnormality of fontanelles	0.4700433785562398	1.607549693074053	0.1079338376447032	1.0	0.915357563214558	46	P56589,Q9Y619,O75718,O75381,Q32P28,O75844,P46100,P36543	8
Sclerocornea	0.669531566569584	1.607460774902486	0.107953327393711	1.0	0.915357563214558	8	P49454,Q9H3P2,Q9UBM7	3
Impaired vibration sensation in the lower limbs	0.5619299605773737	1.6073903050870006	0.1079687754730867	1.0	0.915357563214558	14	Q9NR77	1
Impaired tactile sensation	0.6682770133254032	1.6016918533815845	0.1092237675352323	1.0	0.915357563214558	8	Q9NR77	1
Abnormal motor nerve conduction velocity	0.5283824111602076	1.599700884402294	0.1096649555827502	1.0	0.915357563214558	20	Q9NR77	1
Anterior rib cupping	0.7460820656654419	1.593596869983004	0.1110263560023998	1.0	0.915357563214558	5	O95831	1
Tongue fasciculations	0.6157564352529036	1.5898951362907747	0.1118584441718497	1.0	0.915357563214558	11	O95831	1
Breech presentation	0.6531235787972139	1.588757401252708	0.1121151740544519	1.0	0.915357563214558	9	Q9Y619,O75718	2
Low plasma citrulline	0.9676998368678612	1.58845311141903	0.1121839157522854	1.0	0.915357563214558	2	P00846	1
Vascular tortuosity	0.9676998368678612	1.58845311141903	0.1121839157522854	1.0	0.915357563214558	2	P00846	1
Multiple glomerular cysts	0.9676998368678612	1.58845311141903	0.1121839157522854	1.0	0.915357563214558	2	P00846	1
Retinal arterial tortuosity	0.9676998368678612	1.58845311141903	0.1121839157522854	1.0	0.915357563214558	2	P00846	1
Leber optic atrophy	0.9676998368678612	1.58845311141903	0.1121839157522854	1.0	0.915357563214558	2	P00846	1
Pseudoarthrosis	0.7435174240991103	1.5830178065263067	0.1134174058828278	1.0	0.915357563214558	5	O75844	1
Decreased plasma carnitine	0.6139533472228275	1.580752720888527	0.1139345886470293	1.0	0.915357563214558	11	O43772	1
Broad palm	0.7427937411183608	1.580031374896694	0.1140996815010408	1.0	0.915357563214558	5	O95831	1
Sensory axonal neuropathy	0.595645124612734	1.5797220408636856	0.1141705357654272	1.0	0.915357563214558	12	P34897,Q15067,P22626,O95831	4
Abnormal enchondral ossification	0.4948250824235751	1.5769818822131048	0.1147996939783881	1.0	0.915357563214558	24	Q9Y619,O75381,Q96HY6,Q14739,Q9UBM7	5
Abnormal erythrocyte sedimentation rate	0.6622288172281281	1.5738455114429677	0.1155231694922025	1.0	0.915357563214558	8	P28070,P14174	2
Calcinosis	0.7410808729442575	1.572960675525854	0.1157279241091404	1.0	0.915357563214558	5	O75844	1
Brushfield spots	0.8117415252298816	1.5606097442278974	0.1186158582494605	1.0	0.9166830628302618	4	O75381	1
Bloody diarrhea	0.7040671126273859	1.558584698975603	0.119094706849026	1.0	0.9166830628302618	6	P46100,P25054	2
Short ribs	0.6580406762232976	1.5545304648527871	0.1200579356209903	1.0	0.9166830628302618	8	Q96HY6,Q14739	2
Calvarial skull defect	0.7024238840200301	1.5514959973825129	0.1207828658151324	1.0	0.9166830628302618	6	Q14739	1
Impaired visuospatial constructive cognition	0.644986182581812	1.5504177166360282	0.1210412889449512	1.0	0.9166830628302618	9	Q10713,P00403,P03915	3
Macrogyria	0.6685583910517778	1.5475996789587638	0.1217187087657514	1.0	0.9166830628302618	7	O14936,Q15392	2
Genu varum	0.6442113122140358	1.5467615141230866	0.1219207636917696	1.0	0.9166830628302618	9	Q96HY6	1
Microcytic anemia	0.6246276945778646	1.5394457884257522	0.1236955029659403	1.0	0.9166830628302618	10	Q9BQT8,P46100	2
Thoracic kyphoscoliosis	0.6994162913721249	1.5385133707107863	0.1239231418496715	1.0	0.9166830628302618	6	O75844	1
Abnormal bronchus physiology	0.699333521343695	1.53815593599263	0.1240104919897899	1.0	0.9166830628302618	6	P46100	1
Bronchospasm	0.699333521343695	1.53815593599263	0.1240104919897899	1.0	0.9166830628302618	6	P46100	1
Stillbirth	0.6055419544570313	1.5380277607363355	0.1240418272472032	1.0	0.9166830628302618	11	O75844,Q14739	2
Hyporeflexia of upper limbs	0.95464926590538	1.5367239775755432	0.124360916835152	1.0	0.9166830628302618	2	Q9NR77	1
Aplasia hypoplasia of the lungs	0.4883643483950139	1.5338416288596015	0.1250686189343772	1.0	0.917540075351334	28	Q8TAA9,Q7Z4L5,Q14739,Q9UBM7,O75844,Q9H3P2,Q5JTZ9,P98175	8
Abnormal visual field test	0.7314624766692596	1.5332009459133955	0.1252263512847911	1.0	0.917540075351334	5	P00846	1
Thickened nuchal skin fold	0.6040377432700068	1.5303745438472385	0.1259240463059807	1.0	0.9182769642419846	11	P61978,O75381,P98172	3
Melena	0.8035491627574518	1.528698949209437	0.1263390929310417	1.0	0.9182769642419846	4	P46100	1
Mitochondrial inheritance	0.8025390948053528	1.5247613467462062	0.1273186341714112	1.0	0.9182769642419846	4	P00846	1
Decreased number of peripheral myelinated nerve fibers	0.5434137789938671	1.52449835367202	0.1273842678041683	1.0	0.9182769642419846	15	Q9NR77	1
Cupped ribs	0.6956767814278944	1.5223568790154096	0.1279196832668019	1.0	0.9182769642419846	6	O95831	1
Abnormal circulating sulfur amino acid concentration	0.6504546797662616	1.519480170945073	0.1286416755195591	1.0	0.9182769642419846	8	P41440	1
Upper limb amyotrophy	0.5380112135712064	1.5189208647184926	0.1287824164309592	1.0	0.9182769642419846	16	Q9NR77	1
Hypoglycemic seizures	0.6947330865340909	1.5182771869886595	0.1289445361956942	1.0	0.9182769642419846	6	P53985,Q16836	2
Aplasia hypoplasia of the tongue	0.8007594603119064	1.5178220727253604	0.1290592591162687	1.0	0.9182769642419846	4	Q9UBM7,P48651	2
Microglossia	0.8007594603119064	1.5178220727253604	0.1290592591162687	1.0	0.9182769642419846	4	Q9UBM7,P48651	2
Postaxial polydactyly	0.5275139231247253	1.517180838415753	0.1292210327869107	1.0	0.9182769642419846	18	P61978,O00459,Q10713,P17252,Q14739,Q9UBM7,Q9Y2V7,P98175	8
Optic disc hypoplasia	0.7260008606429292	1.5105846786930524	0.1308942999586888	1.0	0.9234345937772932	5	P25054,O95721	2
Muscle fibrillation	0.5409849462416637	1.510319061706273	0.1309620301201306	1.0	0.9234345937772932	15	O95831	1
Centrocecal scotoma	0.7957593992212466	1.4983147648292374	0.1340514897591735	1.0	0.932057661507546	4	P00846	1
Ureteral duplication	0.6898726194048082	1.4972495708900428	0.1343283312643786	1.0	0.932057661507546	6	O75844,P23786	2
Scotoma	0.5424881389448744	1.496105268457398	0.1346262252192187	1.0	0.932057661507546	14	Q9H061,P03915,P00846	3
Abnormal nerve conduction velocity	0.4663487977262506	1.4960362321084852	0.1346442136346652	1.0	0.932057661507546	42	Q9NR77,O95831	2
Iron deficiency anemia	0.6559153373415578	1.4903458387699229	0.1361333256001704	1.0	0.9355664643765808	7	P46100,P28288	2
Widely spaced incisors	0.720660520362037	1.4884448885653765	0.1366336059815096	1.0	0.9355664643765808	5	P46100,Q8WVM7	2
Upper limb spasticity	0.6554162357211768	1.4880814514875331	0.136729414461965	1.0	0.9355664643765808	7	Q99720	1
Central scotoma	0.5955352471869055	1.4870467011182604	0.1370024769733515	1.0	0.9355664643765808	11	P03915,P00846	2
Nemaline bodies	0.7918521605051467	1.483060575090768	0.1380583174712093	1.0	0.939709901905561	4	O43676	1
Pancreatic islet cell hyperplasia	0.9409461663947774	1.4823941564321117	0.1382354479339309	1.0	0.939709901905561	2	P53985	1
Metaphyseal cupping	0.9409461663947756	1.482394156432104	0.1382354479339329	1.0	0.939709901905561	2	O95831	1
Perseveration	0.7182714478976028	1.4785325504357576	0.139265291255398	1.0	0.9437234980923068	5	P35637	1
Portal fibrosis	0.7903253742892878	1.477097523125732	0.1396494974089979	1.0	0.9437234980923068	4	P55263	1
Adenomatous colonic polyposis	0.7170757727131774	1.473569912892881	0.1405974271631249	1.0	0.9485808289527754	5	P20585,P78549	2
Hypoplasia of the frontal lobes	0.6823912990928563	1.4648356868594483	0.1429657528181369	1.0	0.954784498996897	6	Q86XL3,Q9UBM7	2
Adducted thumb	0.4936129875626415	1.4616118613836342	0.143847602139751	1.0	0.9570386599114648	22	Q86XL3,P42892	2
Increased muscle lipid content	0.637898582511195	1.461294734825265	0.1439345741819353	1.0	0.9570386599114648	8	Q9Y4W6,P23786,Q8NI60	3
Neurodegeneration	0.4773285188007868	1.4518962220486098	0.1465304631907735	1.0	0.96328254534742	27	Q6DKK2,Q15165,P35637,Q92804	4
Dyspnea	0.4064953176448882	1.4505468974283615	0.1469060712441576	1.0	0.96328254534742	92	P00846,P03915,Q8TCJ2,Q9Y619,Q15165,O95831,Q92804,P23786,P35637,O75844,P50995,P46100	12
Abnormality of the wrist	0.4763716017316699	1.444440300595291	0.1486151613454502	1.0	0.96328254534742	26	O95831	1
Enlarged thorax	0.5206791591805301	1.443362713679572	0.1489183218555805	1.0	0.96328254534742	17	Q32P28,O75844,Q14739	3
Dental crowding	0.4903915568799133	1.43980318494034	0.1499230898626788	1.0	0.96328254534742	22	Q01105,Q15233,P52788,Q9UBM7,O75844,P36543	6
Aplasia hypoplasia involving the vertebral column	0.5288464307510078	1.4392953980413816	0.150066846154353	1.0	0.96328254534742	15	Q96HY6,O95831	2
Axial dystonia	0.950621928494736	1.4386013796825157	0.1502634952401123	1.0	0.96328254534742	3	Q99720	1
Misalignment of incisors	0.6761447594197706	1.4377304446126695	0.1505105513590718	1.0	0.96328254534742	6	P46100,Q8WVM7	2
Horizontal nystagmus	0.4751108077014446	1.437178254710573	0.1506673501143915	1.0	0.96328254534742	24	P00846,Q9H061,O14773,O95831,Q96GW9	5
Absence of subcutaneous fat	0.6440834334313175	1.4365860735836162	0.1508356430342736	1.0	0.96328254534742	7	O75844	1
Extramedullary hematopoiesis	0.7795446366967873	1.434958035944037	0.1512990560663722	1.0	0.96328254534742	4	Q14739	1
Oromandibular dystonia	0.7781765707909527	1.429606710567016	0.1528299284645571	1.0	0.96328254534742	4	Q99720	1
Prenatal maternal abnormality	0.5490766599642938	1.4273703708443972	0.1534731665088999	1.0	0.96328254534742	13	O43772	1
Carcinoid tumor	0.7774915026200147	1.4269267040459042	0.1536010226851005	1.0	0.96328254534742	4	P46100	1
Abnormal cardiac ventricular function	0.5225272638123927	1.4266420880154125	0.15368308614137	1.0	0.96328254534742	16	O75844,P03915,P46100	3
Diastema	0.6187582247575054	1.4261917384879264	0.1538130036967526	1.0	0.96328254534742	9	P17252,P46100,Q8WVM7	3
Submucous cleft of soft and hard palate	0.4807875731257931	1.4233936368628228	0.1546220760570138	1.0	0.96328254534742	23	O75844,Q15392,Q9Y619,P48651	4
Abnormal clavicle morphology	0.5009316536987815	1.422698587561961	0.1548235502560671	1.0	0.96328254534742	20	Q9Y619,O75844,P98172,Q14739	4
Pulmonary hypoplasia	0.4876673641297772	1.4213441878408926	0.155216723341875	1.0	0.96328254534742	22	Q8TAA9,Q14739,Q9UBM7,O75844,Q5JTZ9,P98175	6
Abnormality of the ribs	0.4051096698920124	1.41844955310946	0.1560595570280902	1.0	0.96328254534742	59	P25054,Q8TAA9,Q9Y619,O75718,P07237,P48651,Q03164,P00813,O95831,Q32P28,Q96HY6,P54802,Q9UBM7,Q14739,O75844,Q9H3P2	16
Mixed demyelinating and axonal polyneuropathy	0.7034093569126614	1.416771728238941	0.1565496780357858	1.0	0.96328254534742	5	P00403,P03915	2
Skin erosion	0.6385450688633872	1.4113686283700824	0.1581359482245592	1.0	0.96328254534742	7	O75844	1
Elevated hepatic transaminase	0.408311035054776	1.409339866642222	0.158734695839245	1.0	0.96328254534742	97	P50336,Q9Y619,P22695,P28070,O43772,Q15067,P23786,P28288,Q8N511,Q14739,P55263,Q9Y2V7,P39210,P46100,Q16625	15
Hip pain	0.7011853269052912	1.4075165853079057	0.159274262769846	1.0	0.96328254534742	5	P22626,O75844	2
Poikilocytosis	0.5453634198437303	1.4068399093772903	0.1594748653685291	1.0	0.96328254534742	13	P41440	1
Arm dystonia	0.9403907386999208	1.401830656895456	0.1609658214338751	1.0	0.9670707475313928	3	Q99720	1
Widely patent fontanelles and sutures	0.7700038532358182	1.3976230871223423	0.1622262816772695	1.0	0.9710901403290942	4	O75844	1
Acute phase response	0.4696374967899236	1.3965814129760554	0.1625394828773418	1.0	0.9710901403290942	25	O15460,P28070,P14174,P41440	4
Absence of pubertal development	0.6664914024210732	1.395776109296024	0.1627819268286505	1.0	0.9710901403290942	6	O75844	1
Neck flexor weakness	0.9383234593286888	1.394401259153213	0.1631964680925197	1.0	0.9710901403290942	3	Q99720	1
Severe short stature	0.4945130262943325	1.381092136595414	0.1672506330547272	1.0	0.9710901403290942	20	Q9Y619,P48651,Q9H173,Q15392,Q96HY6	5
Limb girdle muscle atrophy	0.5224409835199165	1.3806561424257515	0.1673847122762803	1.0	0.9710901403290942	14	O14979,Q9Y6X9,Q14331,P09651,Q9BTV4,P06753,P50402	7
Dystrophic toenail	0.6627115427065311	1.3793289464592031	0.167793355598264	1.0	0.9710901403290942	6	O75844	1
Male reproductive system neoplasm	0.5568877718958605	1.3743795033633652	0.169323895955415	1.0	0.9710901403290942	12	Q13423,Q92878,P49959,Q8IY37,P25054	5
Symptomatic seizures	0.6269926089452521	1.3586726475203903	0.1742503432626598	1.0	0.9728763789576228	7	P53985,Q16836	2
Elevated urinary carboxylic acid	0.6572484818621036	1.355540629586354	0.1752453729371839	1.0	0.9728763789576228	6	P50336	1
Respiratory arrest	0.6565247130591824	1.3523876542985906	0.1762513367367457	1.0	0.9728763789576228	6	O43772	1
Frontotemporal dementia	0.6143704677895583	1.3517757683179208	0.176447058121643	1.0	0.9728763789576228	8	O96008,P09651,P35637,P22626,Q14203	5
Morphological abnormality of the pyramidal tract	0.4769030097708118	1.3482756525022843	0.1775697400659641	1.0	0.9728763789576228	22	P00846,P35637,O95831	3
Ventricular hypertrophy	0.4611152795626658	1.3469371724293662	0.1780004682217342	1.0	0.9728763789576228	32	P03915,O43772,Q15233,P23786,O75844	5
Skin rash	0.494843376174761	1.3466919896816785	0.1780794532037195	1.0	0.9728763789576228	19	Q06136,P28070,P14174	3
Abnormal renal tubule morphology	0.4765805507879513	1.346084007803921	0.1782754255215106	1.0	0.9728763789576228	22	P03915,P00846	2
Abnormality of thalamus morphology	0.5043397210934921	1.343770183742261	0.1790227139706677	1.0	0.9728763789576228	17	P11166,Q9UPT5,Q96KP1,Q96EY7,Q9GZY8,Q969G3	6
Lower limb pain	0.6541315060775789	1.341959893679906	0.1796090000543229	1.0	0.9728763789576228	6	P00846,Q8WVX9	2
High frequency sensorineural hearing impairment	0.7538176414270432	1.334222031541413	0.1821311012130881	1.0	0.9728763789576228	4	O75844	1
Chondrosarcoma	0.919418445285371	1.3264870232119574	0.1846784306815492	1.0	0.9728763789576228	3	Q92804	1
Abnormality of peripheral nerves	0.4365640202901855	1.3204461092524735	0.1866861175194611	1.0	0.9728763789576228	46	Q9NR77,Q99720,Q9Y619,O95831	4
Dermatological manifestations of systemic disorders	0.3651569738408184	1.3104373002875158	0.1900479421062679	1.0	0.9728763789576228	67	P36551,O14936,O15118,O43772,O75381,P28288,Q14739,O75844,P39210,P46100,Q16625	11
Gaze evoked nystagmus	0.5933606952715692	1.3051466189300664	0.1918429270061805	1.0	0.9728763789576228	9	Q10713,P41440	2
Psychotic mentation	0.7458167868274905	1.3028682675537016	0.1926197390899546	1.0	0.9728763789576228	4	P03915	1
Broad columella	0.7455030479798159	1.3016387368766866	0.1930399111992273	1.0	0.9728763789576228	4	P36543	1
Thoracic hypoplasia	0.4560591073104673	1.3012377357056286	0.1931770923414117	1.0	0.9728763789576228	30	Q14696,O75718,Q92796,Q9UM00,Q96HY6,Q14739	6
Reduced subcutaneous adipose tissue	0.5917735006695313	1.2975642784630494	0.1944371037715009	1.0	0.9728763789576228	9	O75844	1
Aplasia hypoplasia of the cerebral white matter	0.5913483433738435	1.295532946070601	0.195136443622556	1.0	0.9728763789576228	9	P11166,P00403,P03915	3
Aplastic clavicle	0.893637846655788	1.2951465762300785	0.1952696701842013	1.0	0.9728763789576228	2	Q9Y619	1
Lacrimal duct stenosis	0.893637846655787	1.2951465762300738	0.1952696701842029	1.0	0.9728763789576228	2	Q13428	1
Epiphyseal stippling	0.5417784103935672	1.29381621972384	0.1957289087781037	1.0	0.9728763789576228	12	O75381,Q14739,Q9UBM7	3
Multiple joint contractures	0.4805057471271245	1.2900996439145769	0.1970160635080624	1.0	0.9728763789576228	20	P41440	1
Babinski sign	0.3873074136967382	1.2851721976352048	0.1987321167692497	1.0	0.9728763789576228	88	Q13217,Q9Y4W6,P00846,Q92796,Q9NR77,O14773,Q15067,O95831,Q99720,P35637,P41440,Q6DKK2	12
Limb ataxia	0.4531868732136681	1.2768493028824237	0.201655455451978	1.0	0.9728763789576228	26	Q9Y4W6,Q9H173,Q9NR77,Q10713,P41440	5
Abnormality of pain sensation	0.4528284844615734	1.2757710423855233	0.2020364668230625	1.0	0.9728763789576228	25	Q9NR77,P39210,O95831	3
Joint contracture of the hand	0.4355598272564353	1.2741440020796306	0.2026123865307774	1.0	0.9728763789576228	44	Q9NR77,Q15392,O75844,P42892,P98172	5
Optic disc pallor	0.4236821322879671	1.27373335845747	0.202757929957885	1.0	0.9728763789576228	49	Q9Y4W6,P00846,Q5U5X0,O14936,Q6P4Q7,Q9H061,Q10713,Q8N183,O95831,Q9GZY8,O43676	11
Unusual infection by anatomical site	0.5000986768869718	1.27028825053371	0.2039819718893438	1.0	0.9728763789576228	15	Q8TAA9,O95394,O15460,Q14739,P46100	5
Heterogeneous	0.4438411358655853	1.2701400970885746	0.204034730930414	1.0	0.9728763789576228	39	P00846,P03915,Q9NR77,O75844,P46100	5
Ovarian neoplasm	0.4915618288362777	1.2656794267604168	0.2056278768407666	1.0	0.9728763789576228	17	O60934,P04637,Q92878,P35222,Q01844,P49959,P20585,Q8IY37,P02545,P48735,O75874	11
Occipital encephalocele	0.666198046636292	1.2616304294349157	0.2070818013274884	1.0	0.9728763789576228	5	Q10713	1
Abnormal prostate morphology	0.6347598823913834	1.257458263324301	0.2085877430690141	1.0	0.9728763789576228	6	O60934,P04637,Q92878,P49959,P25054	5
Paralysis	0.4240956115044088	1.2543609511441007	0.2097108390091393	1.0	0.9728763789576228	48	P50336,P36551,Q96CV9,Q9NR77,Q15165,Q15233,Q92804,P35637,P50995,P50402	10
Type 1 muscle fiber atrophy	0.6035087581320024	1.2512525328220616	0.2108423575012488	1.0	0.9728763789576228	7	P61978,Q9BTV4,P50402	3
Unsteady gait	0.4154121428070924	1.249173096629508	0.2116017697539822	1.0	0.9728763789576228	51	Q5JRX3,Q9NR77,Q10713,O95831,P52788,Q96F07	6
Centrally nucleated skeletal muscle fibers	0.5915159183171697	1.244959054370206	0.2131468015706523	1.0	0.9728763789576228	8	P22626,P06753,Q13586,Q9H173	4
Abnormality of the 5th toe	0.6317898858463789	1.244492838177862	0.213318233585011	1.0	0.9728763789576228	6	Q10713,Q14739	2
Postaxial foot polydactyly	0.6317898858463789	1.244492838177862	0.213318233585011	1.0	0.9728763789576228	6	Q10713,Q14739	2
Rimmed vacuoles	0.4956488717965236	1.244068286309825	0.2134744317949308	1.0	0.9728763789576228	15	O14979,Q8WXH0,Q9H173,P22626,P31483,P09651,Q9BTV4,P50402	8
Gait ataxia	0.3613218032880445	1.2392779264400091	0.2152425903696919	1.0	0.9728763789576228	69	Q13217,Q9Y4W6,P00846,P03915,Q9H173,Q9NR77,O15118,O14773,Q10713,P41440	10
Impaired mastication	0.6008780634114156	1.2392025501037127	0.2152704964290612	1.0	0.9728763789576228	7	O15460,P06753	2
Abnormal tongue physiology	0.4870669572921118	1.2381856071424255	0.2156472470438721	1.0	0.9728763789576228	17	O95831	1
Very long chain fatty acid accumulation	0.6302134643454368	1.2376105138359277	0.2158605140968859	1.0	0.9728763789576228	6	O75381	1
Episodic respiratory distress	0.8942789729808194	1.2363463663719625	0.2163298431294533	1.0	0.9728763789576228	3	P00846	1
Bird like facies	0.599620895593087	1.2334433507976192	0.2174103996721919	1.0	0.9728763789576228	7	O75844,P29084	2
Basal ganglia cysts	0.5994507021963565	1.2326636484416875	0.2177012795660162	1.0	0.9728763789576228	7	P00846	1
Aganglionic megacolon	0.4897917135309214	1.230512900834681	0.2185050990268164	1.0	0.9728763789576228	16	Q10713,P42892,P46100	3
Abnormality of the musculature of the lower limbs	0.4463277850195991	1.2287273519214108	0.2191740475084531	1.0	0.9728763789576228	30	Q9NR77,Q8NAT1,P00846,P50402	4
Abnormality of the pubic hair	0.5977014444451751	1.2246494346959491	0.2207073335380407	1.0	0.9728763789576228	7	P82650,Q8IY37	2
Abnormal circulating pyruvate family amino acid concentration	0.4804234290453587	1.2243429580661958	0.2208228779165333	1.0	0.9728763789576228	18	P03915,P00846	2
Type ii lissencephaly	0.657158665336282	1.2238996335553165	0.2209900918798939	1.0	0.9728763789576228	5	P07942	1
Male pseudohermaphroditism	0.8907307768458592	1.223649434389703	0.2210845025272709	1.0	0.9728763789576228	3	P46100	1
Cold induced muscle cramps	0.8905009719581077	1.2228273700479328	0.2213949054591191	1.0	0.9728763789576228	3	Q9NR77	1
Postaxial hand polydactyly	0.559900368493545	1.2200416035456194	0.2224491039610654	1.0	0.9728763789576228	10	O00459,Q10713,Q9UM00,Q9UBM7,Q14739	5
Patchy changes of bone mineral density	0.8895181728170158	1.21931206313583	0.2227257717945479	1.0	0.9728763789576228	3	Q13126	1
Talipes equinovarus	0.3607016060134617	1.2186410703208022	0.2229804536525121	1.0	0.9728763789576228	70	P61978,Q8TAA9,P10412,Q9Y619,Q8TD16,Q9NR77,Q9UM00,Q15392,P52788,Q8NI60,Q9NWM8,Q9H3P2,P46100,P98175,P36543	15
Fatigue	0.3711647507882996	1.2181411404297933	0.2231703423466513	1.0	0.9728763789576228	79	P53680,Q96CV9,Q13423,Q4J6C6,Q15165,Q70HW3,Q92804,O15460,P17252,Q8IWT6,P35637,Q14739,Q6UN15,P06753,P50995,P46100	16
Adipose tissue loss	0.575023539461924	1.217468433315226	0.2234260396786438	1.0	0.9728763789576228	9	O75844,P29084	2
Corneal ulceration	0.6552398305701024	1.2158911306223197	0.2240263972091951	1.0	0.9728763789576228	5	O75844	1
Metatarsus valgus	0.7230576098520569	1.2137058450207343	0.2248600715672188	1.0	0.9728763789576228	4	Q9H173	1
Increased susceptibility to fractures	0.4113364689760178	1.2118952635147555	0.2255524754743323	1.0	0.9728763789576228	51	Q14696,O75718,P07237,Q13126,Q32P28,P17252,P52788,Q14739,P22626,P48735,P06753,P39210	12
Abnormal chorioretinal morphology	0.4439364817128445	1.2098078790769102	0.2263526221570102	1.0	0.9728763789576228	26	P56589,Q9Y619,O14936,Q10713,P04439,O75381	6
Clumsiness	0.4680797924606175	1.209247089305212	0.2265679316257527	1.0	0.9728763789576228	20	Q9NR77,Q15067	2
Focal dystonia	0.4679996090148889	1.2087252061681015	0.2267684345010816	1.0	0.9728763789576228	20	Q99720,P35637	2
Limb undergrowth	0.4189123117687267	1.208626209229915	0.2268064825226203	1.0	0.9728763789576228	48	P25054,O75718,Q15392,P17252,Q96HY6,Q9UBM7,Q14739,P48735,P98172,P98175	10
Abdominal pain	0.3686881517255895	1.203118043976534	0.2289306437574398	1.0	0.9728763789576228	78	P50336,P36551,Q70HW3,O15460,P23786,P35637,Q6UN15,P14174,P42892,P46100	10
Agenesis of corpus callosum	0.3705148390704218	1.1977841124825457	0.2310010738441017	1.0	0.9728763789576228	80	P61978,P03915,Q14004,P48651,P29084,P49454,Q10713,Q15392,P78318,Q8NAT1,Q86XL3,P23786,P00403,P98172,O14497,Q9H3P2,P46100,Q969G3	18
Decreased adipose tissue	0.4871158126574447	1.1937773561758946	0.2325650715346938	1.0	0.9728763789576228	15	O75844,P36543	2
Abnormal circulating ferritin concentration	0.5903787220394828	1.1910952512353108	0.2336161939040208	1.0	0.9728763789576228	7	P36551,P41440	2
Broad based gait	0.4595838866555473	1.1899180586186953	0.2340785999387185	1.0	0.9728763789576228	21	P29084,O14773,Q00577,P52788,Q12873,P98175	6
Prostate neoplasm	0.6488960784192991	1.1894197175876782	0.2342745455767714	1.0	0.9728763789576228	5	P49959,P25054	2
Alveolar ridge overgrowth	0.8652528548123894	1.1835076398365167	0.2366080205132958	1.0	0.9728763789576228	2	Q15392	1
Proximal muscle weakness in upper limbs	0.4881669926431833	1.182351144262532	0.2370663999707929	1.0	0.9728763789576228	14	P50336,P50402,P36551	3
Hypocholesterolemia	0.5780570882962129	1.181957872057527	0.2372224171329529	1.0	0.9728763789576228	8	Q9NVI7,P37268,Q9UBM7	3
Epispadias	0.8788503404045541	1.1811991498195071	0.2375236189476217	1.0	0.9728763789576228	3	Q9Y619	1
Tented upper lip vermilion	0.4576635645432705	1.1771378000287032	0.2391405099139483	1.0	0.9728763789576228	21	Q14696,Q4J6C6,P60953,Q00577,Q96F07,P46100	6
Multiple lipomas	0.5763830900846247	1.174120723653651	0.240346673806111	1.0	0.9728763789576228	8	P53680,P03915,P25054	3
Ketosis	0.476520320715976	1.1736639693255375	0.2405296475563385	1.0	0.9728763789576228	17	P53985	1
Abnormality of the metaphysis	0.4195358597614311	1.1735888896894282	0.2405597335132299	1.0	0.9728763789576228	46	P07237,P48651,Q13126,P00813,O95831,Q96HY6,Q14739,P48735	8
Abnormality of the leydig cells	0.8626427406198969	1.1732870908681274	0.2406806972652981	1.0	0.9728763789576228	2	P52788	1
Cupped ear	0.5030892930550802	1.172262558429975	0.241091658914299	1.0	0.9728763789576228	13	P42892,Q15392	2
Increased csf lactate	0.4011284784999395	1.171486427676974	0.2414033101552481	1.0	0.9728763789576228	53	P03915,P00846,Q8N183,O95831,Q8NI60,O43676	6
Hyporeflexia	0.4077792924505192	1.1706451716568007	0.2417414322785904	1.0	0.9728763789576228	117	P50336,P00846,P03915,P35610,Q9H173,Q9NR77,Q10713,Q8TD16,Q15067,O95831,Q99720,Q9NSE4,P35637,P54802,P41440,Q96F07,Q8NAT1,P39210	18
Retrocollis	0.8744906851429947	1.1656492795985738	0.2437562748066706	1.0	0.9728763789576228	3	Q99720	1
Fasting hypoglycemia	0.874190467835505	1.1645790810943977	0.2441894154843555	1.0	0.9728763789576228	3	O43772	1
Gastrointestinal obstruction	0.5157929342627275	1.1549944434520083	0.2480927019136509	1.0	0.9728763789576228	12	P42892	1
Raynaud phenomenon	0.611094320801004	1.1541466134225655	0.2484400655878205	1.0	0.9728763789576228	6	O75844	1
Posterior polar cataract	0.8570962479608442	1.1515991937179075	0.2494858128745825	1.0	0.9728763789576228	2	P08670	1
Multiple gastric polyps	0.8570962479608443	1.151599193717907	0.2494858128745827	1.0	0.9728763789576228	2	P20585	1
Hypotension	0.4359158483269245	1.1502097177676571	0.250057504700989	1.0	0.9728763789576228	27	P46100,O43772	2
Restlessness	0.4288173168813031	1.1494367140924624	0.250375948417282	1.0	0.9728763789576228	39	P35610,Q15165,Q92804,P35637,P42892	5
Rhabdomyolysis	0.5136661479546684	1.1436332930328823	0.2527757484473683	1.0	0.9728763789576228	12	O43772	1
Arthritis	0.4266983830058807	1.1433289423326758	0.2529020427313537	1.0	0.9728763789576228	40	P28070,O15460,Q96HY6,P14174,O75844	5
Biliary cirrhosis	0.6084350599903394	1.142543900814551	0.2532280088446617	1.0	0.9728763789576228	6	Q14739,P14174	2
Abnormal peripheral nervous system physiology	0.4057034472639701	1.1359877759944697	0.2559616802843707	1.0	0.975786858284424	50	Q9NR77,O95831	2
Knee flexion contracture	0.4327445874512039	1.1263277212405898	0.260026828177224	1.0	0.9830440686201288	28	Q8TD16,O00459,P37268,P23786,Q86XL3,P36543	6
Cleft soft palate	0.3866962503111377	1.1241440793887192	0.2609519080851561	1.0	0.9857219916705066	56	P61978,Q9Y619,P48651,Q13428,Q92796,Q15392,P34897,Q15233,P52788,Q9NWM8,Q8NAT1	11
Oral aversion	0.5553008018884887	1.1230944988202958	0.2613973622739725	1.0	0.9859267414004832	9	O14497,Q969G3,P35610,Q96GM5	4
Abnormality of the anterior fontanelle	0.4306830226698012	1.1204568897456424	0.2625191136823339	1.0	0.9859267414004832	33	Q9Y619,O75718,O75381,Q32P28,P36543	5
Abnormal head movements	0.5234990471627936	1.1170086253176594	0.2639906372736429	1.0	0.9859267414004832	11	Q99720	1
Retinal vascular tortuosity	0.4735106754575319	1.1136341663114977	0.2654361626996988	1.0	0.9859267414004832	15	P03915,P00846	2
Pleural effusion	0.5377468492590879	1.1101883947543931	0.2669178525988007	1.0	0.9859267414004832	10	P14174	1
Abnormal size of the clitoris	0.4696977811025475	1.109943016152019	0.2670235825323566	1.0	0.9859267414004832	16	Q8IY37,Q9Y619,Q9UBM7,O75381	4
Abnormal consumption behavior	0.4474455212415101	1.109165118211626	0.2673589573861317	1.0	0.9859267414004832	21	P35610,Q4J6C6	2
Thick corpus callosum	0.8585795165382482	1.1090511233196612	0.2674081282807559	1.0	0.9859267414004832	3	O00459	1
Self mutilation	0.5510604435312452	1.1028157517599606	0.27010718620331	1.0	0.9859267414004832	9	Q10713,Q9UM00,Q9UBM7	3
Metaphyseal widening	0.4609333420024124	1.1027679569487312	0.2701279466752728	1.0	0.9859267414004832	18	Q96HY6,Q14739,O95831	3
Megalencephaly	0.8566186078583302	1.102094705671831	0.2704205008492222	1.0	0.9859267414004832	3	O00459	1
Increased intramyocellular lipid droplets	0.5985450762865241	1.099422455654374	0.2715838404145974	1.0	0.9859267414004832	6	Q8NI60	1
Abnormal pleura morphology	0.4559107812960403	1.09883064125175	0.2718419442953044	1.0	0.9859267414004832	19	O15460,Q14739,P14174	3
Aplasia hypoplasia of the optic nerve	0.4341586927469286	1.0984053136315304	0.27202754315228	1.0	0.9859267414004832	23	P61978,O95721,O14936,P49454,P37268,Q8WXI9,Q96KP1,Q9NVI7,P25054	9
Atrophy degeneration involving the spinal cord	0.5975686061365064	1.09516814615076	0.2734429781229752	1.0	0.9859267414004832	6	Q9Y6X9,Q13217	2
Impaired proprioception	0.4236759764069061	1.0902199627222655	0.2756162617630946	1.0	0.9859267414004832	37	Q13217,P00846,Q9NR77,P54802,P41440	5
Abnormality of hand joint mobility	0.6910827667344436	1.0888179405788625	0.2762341785202933	1.0	0.9859267414004832	4	P52788,P48651	2
Hyperextensibility of the finger joints	0.6910827667344436	1.0888179405788625	0.2762341785202933	1.0	0.9859267414004832	4	P52788,P48651	2
Abnormal gastrointestinal motility	0.4327276795677451	1.0884324756771349	0.2764042308768486	1.0	0.9859267414004832	23	P50336,P61978,P03915,P36551,P35637,Q9UBM7	6
Abnormality of the musculature of the upper arm	0.5676487649905031	1.0869844473472698	0.277043683127991	1.0	0.9859267414004832	7	O14979,Q8WXH0,Q9Y6X9,Q9BTV4,P50402	5
Proximal upper limb amyotrophy	0.5676487649905031	1.0869844473472698	0.277043683127991	1.0	0.9859267414004832	7	O14979,Q8WXH0,Q9Y6X9,Q9BTV4,P50402	5
Abnormal urinary color	0.6242868326896054	1.0868956587547087	0.2770829251235076	1.0	0.9859267414004832	5	P23786	1
Respiratory failure	0.3611053259880519	1.085624375347736	0.2776452110424037	1.0	0.9859267414004832	62	Q5U5X0,Q9Y619,Q8TD16,Q96CV9,Q15165,Q8N183,Q70HW3,Q92804,P23786,P35637,P50995	11
Upper limb muscle weakness	0.4262817643635603	1.0846487232618776	0.2780772665382207	1.0	0.9859267414004832	25	P50336,P00846,P36551,P50402,Q969G3	5
Abnormal eating behavior	0.4536409793575044	1.084396623760054	0.2781889800642512	1.0	0.9859267414004832	19	P35610,Q4J6C6	2
Abnormal fallopian tube morphology	0.6232062412437294	1.082403445541214	0.2790732979499375	1.0	0.9859267414004832	5	O60934,P49959,Q92878	3
Abnormality of the incisor	0.4262913943705294	1.0819603876187571	0.2792701298982509	1.0	0.9859267414004832	26	Q9Y296,Q8WVM7,Q00577,Q96PZ0,P46100	5
Fasting hyperinsulinemia	0.6885406464250676	1.0789242071910177	0.2806215165568688	1.0	0.9868969788539256	4	Q16836,P02545,P40939	3
Optic disc coloboma	0.8499692551401969	1.078540567069618	0.2807925880908046	1.0	0.9868969788539256	3	Q10713	1
Platyspondyly	0.4243238707991588	1.0686749824160453	0.2852161482709745	1.0	0.9911154953904118	32	O95831,Q32P28,Q96HY6,Q14739,P48735	5
Abnormal choroid morphology	0.423606882930947	1.0604882934246966	0.2889225129648642	1.0	0.9920978080995272	27	P56589,Q9Y619,O14936,Q10713,P04439,O75381	6
Severe global developmental delay	0.3430370846128632	1.0575509918858217	0.2902601955533552	1.0	0.9920978080995272	67	P00846,P03915,O14936,Q15067,O75381,Q00577,P55263,P07942,Q96PZ0	9
Astrocytoma	0.5514474590137417	1.0574799262143646	0.2902926112760662	1.0	0.9920978080995272	8	P20585,P48735	2
Ambiguous genitalia	0.4535925380931941	1.057062321579166	0.2904831456596661	1.0	0.9920978080995272	18	P46100,Q8IY37,Q15392,Q9UBM7	4
Abnormal mitochondrial shape	0.6161798397953403	1.0532212943011148	0.2922395811235492	1.0	0.9920978080995272	5	Q9GZY8	1
Ketotic hypoglycemia	0.8424144835414518	1.051849566127742	0.2928685739828505	1.0	0.9920978080995272	3	P53985	1
Abnormal csf metabolite level	0.369092257337925	1.0513189885983598	0.2931121088183173	1.0	0.9920978080995272	59	P03915,P00846,Q8N183,O95831,Q8NI60	5
Eversion of lateral third of lower eyelids	0.8309951060358817	1.0502061065122346	0.2936233625928777	1.0	0.9920978080995272	2	P61978	1
Episodic tachypnea	0.5582159919267651	1.0438567392017564	0.2965516758603799	1.0	0.9920978080995272	7	P22695	1
Anorexia	0.4200695042676087	1.0400124570491027	0.2983341132290631	1.0	0.9923620968679748	25	O15460,P46100,P35610	3
Weakness of muscles of respiration	0.4200720213425613	1.0396680700310204	0.2984941399550109	1.0	0.9923620968679748	33	P50336,P36551,Q8TD16,Q9BTV4,Q15067,O95831,P22626,P06753,P50402	9
Optic neuropathy	0.4185348596853144	1.0329164738833323	0.3016429886567335	1.0	0.9945824250326432	24	P03915,Q8N183,P00846	3
Abnormal thoracic spine morphology	0.4198205993142546	1.031545852038405	0.3022849177704585	1.0	0.9945824250326432	28	O75844,Q9NSE4,O95831,O00459	4
Arthralgia	0.417130546532133	1.0259999645631128	0.3048916007692177	1.0	0.9945824250326432	35	Q96HY6,P28070,P14174	3
Neuronal loss in central nervous system	0.4916025954981267	1.0259755555914825	0.3049031063702137	1.0	0.9945824250326432	12	P35637	1
Limb pain	0.5206737694635158	1.025695838628271	0.3050349764844422	1.0	0.9945824250326432	10	P00846,P36551,Q8WVX9	3
Abnormal brainstem mri signal intensity	0.4294192215540158	1.0251653075445006	0.3052851946670118	1.0	0.9945824250326432	22	Q8N183,O95831	2
Neoplasm of the endocrine system	0.4161014558415565	1.023816387280145	0.305922008686704	1.0	0.9946394137402416	36	P20585,P25054,O14497,P48735,P42892,P46100,Q969G3	7
Abnormal lacrimal duct morphology	0.6089556998721457	1.0232757627916658	0.3061774800431702	1.0	0.9946394137402416	5	Q13428	1
Breast hypoplasia	0.5807900847384009	1.0221976362709522	0.3066873693119141	1.0	0.9951718537111058	6	P98172	1
Limb joint contracture	0.3736885136665998	1.0218609875377982	0.3068466991875023	1.0	0.9951718537111058	97	Q9Y619,Q8TD16,O00459,Q9NR77,Q15392,P37268,Q99720,Q86XL3,P23786,P35637,O75844,P50402,P42892,P98172,P36543	15
Bilateral cryptorchidism	0.5198327921310913	1.0215417789525874	0.3069978255841428	1.0	0.9951718537111058	10	P36543,P37268,Q15233	3
Abnormality of hair pigmentation	0.4339570488951969	1.019631425495602	0.3079032951869913	1.0	0.9960432982434796	21	Q13126,Q9Y4I1,P37268	3
Hyperglycemia	0.5335327486620784	1.0191269891284542	0.3081426826360105	1.0	0.9960432982434796	9	O75844	1
Osteopenia	0.3484082963387055	1.0123845778511429	0.3113542092953341	1.0	1.0	75	P61978,O75718,P07237,P29084,Q13126,Q32P28,Q9NSE4,Q9NWM8,O75844	9
Abnormality of skeletal muscle fiber size	0.4460207478996517	1.0100161923940756	0.3124875322943947	1.0	1.0	18	P22626,P06753,O95831	3
Erythema	0.4454703848468665	1.0066014422220972	0.3141263411234625	1.0	1.0	18	Q06136,P22830	2
Increased serum pyruvate	0.4152343921852789	1.0029207351674183	0.3158991072289914	1.0	1.0	33	Q8N183,P22695,Q70HW3,O95831,Q9BWD1,O43676	6
Spastic dysarthria	0.5391992476501569	1.000354313643251	0.3171390711815436	1.0	1.0	8	Q9Y4W6,Q96GW9	2
Back pain	0.4197540866607711	0.9981905012472309	0.3181869915922215	1.0	1.0	23	P50336,Q8TAA9,P36551,Q9BTV4,P50402,Q969G3	6
Airway obstruction	0.4504775692867948	0.9950072087314208	0.3197327583167584	1.0	1.0	16	Q96HY6	1
Limb girdle muscle weakness	0.4137562820513898	0.9947403522597048	0.3198625632334475	1.0	1.0	25	O14979,Q8TD16,Q13126,P06753,Q14331	5
Areflexia	0.3570203091719102	0.9944000389095252	0.3200281492043659	1.0	1.0	84	P61978,Q13217,P56589,O95394,Q8TD16,Q9H173,Q9NR77,Q9BQT8,Q15067,O95831,P41440,Q8NAT1,P39210	13
Retinal dystrophy	0.3848273236343966	0.9934859525302971	0.3204731928606517	1.0	1.0	52	P56589,P00846,P03915,Q6P4Q7,Q10713,Q9Y4I1,Q15067,O75381	8
Recurrent pancreatitis	0.8249199249702347	0.990373453552708	0.3219916158758376	1.0	1.0	3	P03915	1
Abnormality of lower limb epiphysis morphology	0.4519320387800016	0.9869659284651904	0.3236593418468838	1.0	1.0	15	O95831	1
Fever	0.356308220400144	0.9864002854547936	0.3239367250696494	1.0	1.0	84	P61978,P03915,P00846,P35610,Q9NR77,P00813,P28070,O15460,P23786,Q14739,P14174,Q6UN15,Q9Y2V7	13
Abnormality of iron homeostasis	0.5991750702842744	0.9828466317563028	0.3256829272355332	1.0	1.0	5	Q15477,P28288	2
Delayed ability to walk	0.347058859087169	0.9770017649857372	0.3285682785762367	1.0	1.0	63	O14936,Q96GM5,Q15233,P20700,Q99720,P35637,Q96PZ0,Q14004,Q92785,Q6ZXV5,Q12873,P34897,Q03252,Q8WVX9,P61978,Q96N66,Q10713,Q9NVV4,Q8N3U4,Q01105	20
Steroid resistant nephrotic syndrome	0.597516798735501	0.9760068448005798	0.3290610723780847	1.0	1.0	5	Q12769,Q9BW27	2
Mediastinal lymphadenopathy	0.5971078239085272	0.974320683779494	0.3298973378365653	1.0	1.0	5	O15460	1
Hyperconvex fingernails	0.5964441713880994	0.9715851270314776	0.3312569845982827	1.0	1.0	5	O96028,P51812,P48651	3
Proportionate short stature	0.4116161004497706	0.97126380977573	0.3314169255777601	1.0	1.0	31	Q9Y619,P48651,Q9H173,Q15392,Q96HY6,Q14739,Q96EY7	7
Abnormal circulating carboxylic acid concentration	0.3604688542577249	0.971017699571313	0.3315394647663363	1.0	1.0	89	P03915,P00846,O14874,Q9Y619,P36551,P22695,P37268,P23786,P28288,Q14739,P41440,P55263,P48735	13
Excessive daytime somnolence	0.451299517649165	0.9695637511782512	0.3322639886744687	1.0	1.0	14	P35610,Q969G3	2
Impaired antigen specific response	0.5086625747543115	0.9664655337404776	0.3338112854215649	1.0	1.0	10	Q9Y2V7,P00813,O95394	3
Abnormal thalamic mri signal intensity	0.5662759955109147	0.9593536968915236	0.337380592880887	1.0	1.0	6	Q9GZY8,Q969G3	2
Abnormality of the peripheral nervous system	0.3659029357549976	0.9589699814066368	0.3375738679268887	1.0	1.0	95	P50336,Q9Y619,Q9NR77,Q15067,O95831,Q99720,P41440,P42892,P39210,P46100	10
Streak ovary	0.566183027989648	0.9589522418315212	0.337582804958205	1.0	1.0	6	P82650,Q8IY37	2
Abnormality of the larynx	0.4008091872942476	0.9552753539880208	0.3394384676688635	1.0	1.0	42	Q15165,Q92804,Q96HY6,P35637,Q9UBM7,Q14739,P50995,P36543	8
Ventricular preexcitation	0.5384513494014738	0.9538086810208236	0.3401804943751698	1.0	1.0	7	P00846	1
Central apnea	0.5381552873876846	0.9524642234648614	0.3408616017722876	1.0	1.0	7	P11166,Q10713	2
Distal sensory impairment	0.4027866110577141	0.9500599236513008	0.3420818051910181	1.0	1.0	40	Q9NR77,P54802,O95831	3
Abnormal circulating proteinogenic amino acid derivative concentration	0.4227367371616219	0.945475716957772	0.3444160623475953	1.0	1.0	21	P03915,P00846	2
Chondrocalcinosis	0.5899650538673497	0.944920333005024	0.3446995500300471	1.0	1.0	5	P53680,P35670,P02545	3
Membranoproliferative glomerulonephritis	0.8032626427406158	0.9440504401745896	0.3451438732817282	1.0	1.0	2	O95394	1
Widow s peak	0.6527612496058952	0.9406033757244586	0.3469081513425047	1.0	1.0	4	P98172,P29372	2
Hypochromic anemia	0.4604630393826742	0.9364197916542334	0.3490570917271247	1.0	1.0	13	Q9Y606,P46100,P28288	3
Exodeviation	0.4048688168825243	0.9357251501176042	0.3494147180846698	1.0	1.0	24	Q5U5X0,Q15233,P55795,P98172,P46100	5
Areflexia of lower limbs	0.4258435412700638	0.9352784850912944	0.3496448000813688	1.0	1.0	20	Q9NR77,Q15067	2
Gonadal neoplasm	0.4203237963169211	0.9295827522766472	0.3525871610422371	1.0	1.0	21	Q92878,Q13423,P49959,P20585,Q8IY37,P48735	6
Skin pit	0.5138032883372321	0.9253901874953218	0.3547629811083972	1.0	1.0	9	P61978,Q8N3U4,O96028,P16615	4
Neoplasm of the adrenal cortex	0.5851968632672455	0.925349242729365	0.3547842719727947	1.0	1.0	5	P48735	1
Limb girdle muscular dystrophy	0.5122559881779425	0.9180692269445968	0.3585826243538135	1.0	1.0	9	O14979,Q8WXH0,P09651,Q9BTV4,P50402	5
Primary peritoneal carcinoma	0.6454456415279166	0.912600869228818	0.3614524970060939	1.0	1.0	4	O60934,P49959,Q92878	3
Fasciculations	0.4022835083571618	0.9117197106696672	0.3619162852284585	1.0	1.0	35	Q96CV9,Q8TD16,Q9BQT8,O95831,P35637,P22626	6
Extrapyramidal dyskinesia	0.8021765223770482	0.9112992344337708	0.3621377296967862	1.0	1.0	3	P35610	1
Hemianopia	0.5196505418723977	0.9096364367801556	0.3630142760470898	1.0	1.0	8	P03915	1
Sleep wake cycle disturbance	0.6445000450961982	0.908989958598598	0.3633554262464638	1.0	1.0	4	Q8N3U4,Q9UBM7	2
Breast carcinoma	0.4258102238024729	0.9083193401097568	0.3637095273276465	1.0	1.0	19	P48735,P78549,P46100,P25054	4
Soft tissue sarcoma	0.4028027298961601	0.9054361527613222	0.3652343701886014	1.0	1.0	30	Q13126,Q15392	2
Sarcoma	0.3642007259026544	0.90537769081639	0.3652653304294766	1.0	1.0	56	Q13126,P48735,Q15392,Q92804	4
Respiratory distress	0.3799317442565226	0.904218089822437	0.365879769812794	1.0	1.0	50	P00846,Q9Y619,Q8TCJ2,P03915,O95831,P23786	6
Median cleft palate	0.7924959216965628	0.9033985584824462	0.3663144047870181	1.0	1.0	2	Q14739	1
Kyphoscoliosis	0.3772354861669963	0.9011050204960056	0.3675324838244622	1.0	1.0	51	P10412,Q9NR77,Q15233,P52788,Q9NWM8,O75844,P46100	7
Germ cell neoplasia	0.526223879164744	0.898423617128048	0.3689597501836541	1.0	1.0	7	P20585	1
Eruption failure	0.5253128277799995	0.8943097504355938	0.3711561844999664	1.0	1.0	7	O75844	1
Cortical cataract	0.7898858075040761	0.8935982306137525	0.3715368934036969	1.0	1.0	2	Q99797	1
High narrow palate	0.4004909451695825	0.8895750136966611	0.3736941276665937	1.0	1.0	32	P61978,Q9Y619,P29084,P48651,Q15233,P23786,P52788,P25054,Q12873	9
Synostosis involving digits	0.6391929431597811	0.8887629960302293	0.3741304668910648	1.0	1.0	4	Q15233	1
Shallow orbits	0.4921884445801499	0.8856883880070534	0.3757854673236851	1.0	1.0	10	P61978,O75844	2
Hip subluxation	0.5484368779511425	0.882638917251889	0.3774313946229246	1.0	1.0	6	Q02809,Q03252,Q9UBM7	3
Hepatoblastoma	0.4915139620643088	0.8823957152529497	0.3775628519919911	1.0	1.0	10	Q96GM5,Q15477,P25054,O14497,Q969G3	5
Flared metaphysis	0.5045387694626293	0.881639235861721	0.3779719302669551	1.0	1.0	9	Q96HY6,Q14739	2
Extra axial cerebrospinal fluid accumulation	0.7862969004893963	0.8801596871367281	0.3787728086474917	1.0	1.0	2	Q03252	1
Aplasia hypoplasia affecting the fundus	0.3980251734744334	0.8785163480455263	0.3796635698931914	1.0	1.0	26	P61978,O95721,O14936,P49454,Q9Y4I1,P37268,Q8WXI9,Q96KP1,Q9NVI7,P25054	10
Complete duplication of phalanx of hand	0.6349288900317045	0.8725618282634113	0.3829019541313365	1.0	1.0	4	P34897	1
Abnormal thalamic size	0.7903925866615447	0.8707860434661527	0.3838709870993786	1.0	1.0	3	Q9UPT5	1
Tracheal stenosis	0.790342352823818	0.8706140920715363	0.3839648993827034	1.0	1.0	3	Q96HY6	1
Nasolacrimal duct obstruction	0.6343589009814181	0.870399731482146	0.3840819933906998	1.0	1.0	4	Q13428	1
Split nail	0.5452304388429967	0.8689278918135321	0.3848865726047523	1.0	1.0	6	P98172	1
Abnormal endocrine physiology	0.5447916979617098	0.8670538932192786	0.3859124815035493	1.0	1.0	6	P50336	1
Organic aciduria	0.393432265193642	0.8668083123996885	0.3860470468563299	1.0	1.0	39	P50336,P48735,P23786,O43772	4
Spastic ataxia	0.5103590418062984	0.8667991440025128	0.3860520712097686	1.0	1.0	8	Q9Y4W6,Q9NVV4,Q96GW9	3
Abnormality of the phalanges of the toes	0.4325149730527874	0.862369002511349	0.3884844924437627	1.0	1.0	14	O75844,P98172	2
Abnormal corneal epithelium morphology	0.4180702875293798	0.8598215757548682	0.3898874040048206	1.0	1.0	19	P29084,Q9NSE4,Q14739,O75844,P39210	5
Coxa valga	0.4094784260142421	0.8584581986573038	0.3906395030429626	1.0	1.0	21	O75844,P46100,Q9H173	3
Progressive visual loss	0.3994673226691462	0.858164025206288	0.3908018976512197	1.0	1.0	23	P03915,O14773,P00846,Q969G3	4
Gastrostomy tube feeding in infancy	0.3961502720655159	0.8575130178287432	0.3911614235274543	1.0	1.0	29	Q99720,P37268	2
Abnormal full field electroretinogram	0.5166827616941071	0.8554430723902772	0.3923059071236827	1.0	1.0	7	P00846	1
Abnormal light and dark adapted electroretinogram	0.5166827616941071	0.8554430723902772	0.3923059071236827	1.0	1.0	7	P00846	1
Abnormal metabolic brain imaging by mrs	0.4269121321371786	0.8554289827673971	0.3923137043011824	1.0	1.0	16	P03915	1
Abnormality of subcutaneous fat tissue	0.4278307523928403	0.8469636446043952	0.3970153857781189	1.0	1.0	15	O75844,P36543	2
Telecanthus	0.3904238435079436	0.84304880163471	0.399201150872595	1.0	1.0	39	P10412,O00459,Q86XL3,O75844,P46100	5
Red eye	0.4061752929014441	0.8369137350720007	0.4026410592886078	1.0	1.0	21	P29084,P28070,P34897,Q9NSE4,Q14739	5
Abnormal soft palate morphology	0.3297766766793092	0.8313937041693173	0.405751254539199	1.0	1.0	64	P61978,Q9Y619,P48651,Q13428,Q92796,Q15392,P34897,Q15233,P52788,Q9NWM8,Q8NAT1	11
Genu valgum	0.3923743088190015	0.82866180214143	0.4072958060674554	1.0	1.0	31	Q9NX62,Q9Y619,Q9NR77,Q9NSE4,P46100	5
Abnormal exteroceptive sensation	0.373481510112264	0.8278389407417628	0.4077617182083177	1.0	1.0	49	Q9NR77,O95831,O15460,P54802,P39210	5
Scrotal hypoplasia	0.4195088612049318	0.8278097453572885	0.4077782547521018	1.0	1.0	17	Q13428,P46100,Q8TCJ2	3
Abnormality of endocrine pancreas physiology	0.622992829746136	0.8274740554263342	0.40796842144101	1.0	1.0	4	P53985	1
Large intestinal polyposis	0.5016835115601522	0.827015164984608	0.4082284660825606	1.0	1.0	8	P20585,P78549	2
Fatty replacement of skeletal muscle	0.5101385498067658	0.82610773422249	0.4087429807121996	1.0	1.0	7	P09651,P22626	2
Abnormal blood sodium concentration	0.4797603797239395	0.8252438739896206	0.4092331492854204	1.0	1.0	10	P50336,P36551,Q13423	3
Rod cone dystrophy	0.3887554644372303	0.8230871032568359	0.4104584622354386	1.0	1.0	38	P03915,Q15067,P00846	3
Aplasia hypoplasia of the breasts	0.4917127929705463	0.8214550946194263	0.4113870924003788	1.0	1.0	9	P98172	1
Papillary thyroid carcinoma	0.4911298949473162	0.818732297072321	0.4129391655807382	1.0	1.0	9	O14497,P25054,Q969G3,Q96GM5	4
Abnormal glial cell morphology	0.355096030411673	0.8177385663405994	0.4135064837544238	1.0	1.0	56	P00846,Q10713,O95831,P35637,P48735	5
Prominent eyelashes	0.4996106632158834	0.8175442545127781	0.4136174697622068	1.0	1.0	8	P20700,Q969G3,O14497,Q96GM5	4
Polar cataract	0.7735161958206813	0.8134133222855944	0.4159811236620756	1.0	1.0	3	P08670	1
Adenocarcinoma of the small intestine	0.7725861108500953	0.8102758379247611	0.4177816589740968	1.0	1.0	3	P78549	1
Duodenal adenocarcinoma	0.7725861108500953	0.8102758379247611	0.4177816589740968	1.0	1.0	3	P78549	1
Abnormality of cranial sutures	0.3404958591784305	0.8098733443767693	0.418012973250623	1.0	1.0	84	P61978,Q9NX62,Q14696,Q9Y619,O75718,P07237,P48651,P29084,O75381,O95831,Q32P28,Q00577,O75844,P98172,P36543	15
Vocal cord paralysis	0.4099443532385684	0.8092340905801337	0.4183805093649502	1.0	1.0	19	Q9NR77,P50402	2
Thoracic scoliosis	0.436757278555333	0.8072567738275274	0.4195185624720972	1.0	1.0	13	O75844,Q9NSE4,O00459	3
Decreased circulating level of specific antibody	0.4973127969559714	0.8070621592297301	0.4196306720341682	1.0	1.0	8	Q9Y2V7	1
Vertebral hypoplasia	0.4752505542367597	0.8034424051042611	0.4217190735300622	1.0	1.0	10	Q96HY6	1
Abnormal morphology of the olfactory bulb	0.6163891609533223	0.8027125709511383	0.4221408853264421	1.0	1.0	4	Q13509,Q8N3U4,Q14683	3
Coma	0.3872182426744543	0.8007214690516854	0.4232929108317713	1.0	1.0	36	P50336,P23786,O43772,P35610	4
Speech apraxia	0.3855673016228454	0.7998830578019068	0.4237785546699719	1.0	1.0	24	Q9Y619,Q15233,Q00577,Q96PZ0,Q12873	5
Decreased cervical spine flexion due to contractures of posterior cervical muscles	0.5286161485214663	0.7983578527233454	0.424662854358238	1.0	1.0	6	Q9BTV4,P50402,P02545,Q8WXH0	4
Constriction of peripheral visual field	0.3953241281618645	0.7960574015898266	0.4259986723275302	1.0	1.0	22	Q9H061,P00846,O75381	3
Serositis	0.4141378107460465	0.7958414423203674	0.4261242005643786	1.0	1.0	17	Q12769,O15460,Q9BW27,Q8NFH4,P14174,Q14C86	6
Protruding tongue	0.4735586396050183	0.7952837686176278	0.4264484531321302	1.0	1.0	10	P46100	1
Entropion	0.4730868682649373	0.7930108962343542	0.4277714744175156	1.0	1.0	10	O75844	1
Hemifacial spasm	0.6136199342085915	0.7923713305237058	0.4281441910413592	1.0	1.0	4	Q969G3	1
Paranoia	0.5519623144380654	0.7905360729140387	0.4292147639912334	1.0	1.0	5	P50336	1
Abnormal circulating amino acid concentration	0.3647127807190822	0.7885285480287294	0.4303876067525947	1.0	1.0	51	P03915,P00846,Q9Y619,O14874,P41440,P55263	6
Abnormal circulating free fatty acid concentration	0.6125589701346346	0.7884162454078959	0.4304532714523215	1.0	1.0	4	Q16836,P40939	2
Asymmetric septal hypertrophy	0.7605220228384851	0.7850428400995791	0.4324284513692311	1.0	1.0	2	P54802	1
Neurofibrillary tangles	0.7598694942903642	0.7826697773541879	0.4338210543152447	1.0	1.0	2	O15118	1
Abnormality of the knee	0.3378347994497281	0.7804472982013523	0.4351276368829138	1.0	1.0	84	Q9NX62,Q9Y619,Q8TD16,O00459,Q9NR77,P48651,P37268,O95831,Q86XL3,Q96HY6,P23786,Q9NSE4,P46100,P36543	14
Dyschromatopsia	0.4998058853462167	0.7800720909400044	0.435348442912026	1.0	1.0	7	Q9H061,Q9Y4W6,Q9H6K4	3
Periauricular skin pits	0.4910089803823683	0.7784036080866965	0.4363311123748983	1.0	1.0	8	P61978,Q8N3U4,O96028	3
Lipid accumulation in hepatocytes	0.3193328589470405	0.7759958192060818	0.4377514543976457	1.0	1.0	68	Q15067,O43772,P23786,Q8N511,P55263	5
Neoplasm of the thyroid gland	0.391975930035404	0.773901511161904	0.4389890358918056	1.0	1.0	22	P20585,P25054,O14497,P42892,Q969G3	5
Relative macrocephaly	0.384560467902287	0.772435273951667	0.4398566687119192	1.0	1.0	33	P48651,Q15392,Q15233,P25054,O75844,Q96PZ0	6
Episodic pain	0.4163364519219245	0.7713047710948743	0.4405263050451007	1.0	1.0	14	P46100	1
Abnormal autonomic nervous system physiology	0.3842550728380406	0.7699525487316469	0.4413280407941387	1.0	1.0	30	P50336,P42892,P41440	3
Osteomyelitis	0.4119758404089961	0.7682682791807082	0.4423278159729507	1.0	1.0	16	Q13126,P39210,O95394	3
Open mouth	0.3838885833949809	0.7673012236689153	0.4429024410677498	1.0	1.0	30	P61978,Q10713,Q15233,Q00577,Q86XL3,P46100	6
Abnormal circulating copper concentration	0.5447297027913207	0.7616629910547881	0.4462611689666858	1.0	1.0	5	Q9Y487,Q10567	2
Abnormal biliary tract morphology	0.3943913465987307	0.7606134282929119	0.4468879967781789	1.0	1.0	21	Q14739,P14174	2
Juvenile aseptic necrosis	0.5185723966677289	0.7561490457920207	0.4495598388558939	1.0	1.0	6	Q9H173	1
Cutaneous finger syndactyly	0.7523654159869353	0.755516859174003	0.4499389204790489	1.0	1.0	2	Q9Y619	1
Abnormal circulating cholesterol concentration	0.3819396331283546	0.7548919058174177	0.4503138427879267	1.0	1.0	29	P34913,P37268,Q15392,Q8N511,Q14739,Q9UBM7,P50402	7
Tubulointerstitial nephritis	0.5429851388298302	0.7547286481818959	0.4504118135324435	1.0	1.0	5	P23786	1
Palmoplantar cutis laxa	0.7520391517128875	0.7543421721324958	0.4506437855383698	1.0	1.0	2	Q02809	1
Excessive wrinkling of palmar skin	0.7520391517128875	0.7543421721324958	0.4506437855383698	1.0	1.0	2	Q02809	1
Achilles tendon contracture	0.452120162105421	0.7543055455972839	0.4506657731544365	1.0	1.0	11	Q08J23,Q8TD16,Q15149,Q8WXH0,Q8N2K0,P02545,Q9BTV4,P50402	8
Symphalangism affecting the phalanges of the hand	0.7557787550076052	0.7540682257407193	0.4508082555645201	1.0	1.0	3	Q15233	1
Proximal symphalangism	0.7557787550076052	0.7540682257407193	0.4508082555645201	1.0	1.0	3	Q15233	1
Sensory neuropathy	0.3820451297938708	0.753111890187521	0.4513826799620806	1.0	1.0	31	P00846,P03915,Q15067,P34897,O95831,P09651,Q9NSE4,P22626	8
Abnormality of fundus pigmentation	0.6027891451245175	0.7521859712323049	0.451939228916286	1.0	1.0	4	Q9Y619	1
Neoplasm of the skeletal system	0.3795160351137835	0.7514329105760139	0.4523921625889326	1.0	1.0	38	Q13126,P48735,Q92804	3
Metaphyseal irregularity	0.4765145934764393	0.7508802391635445	0.4527247338565783	1.0	1.0	9	Q96HY6	1
Abnormal levels of alpha fetoprotein	0.6020241593209354	0.7493642195727207	0.4536377106066092	1.0	1.0	4	P35222,Q15149,Q9NWH9	3
Total anomalous pulmonary venous return	0.7543467243018451	0.7493245637810652	0.453661606034657	1.0	1.0	3	Q15392	1
Narrow mouth	0.3192155223787699	0.7489544756766146	0.4538846446082534	1.0	1.0	70	Q9NX62,Q9Y619,Q14004,O00459,Q13428,Q15392,Q15233,P52788,O75844,Q96PZ0	10
Abnormal tricuspid valve physiology	0.4031935480025335	0.7478077217796855	0.4545761438264355	1.0	1.0	18	P46100,Q15233	2
Infectious encephalitis	0.4636250564473761	0.7476308344672098	0.4546828607190418	1.0	1.0	10	P46100	1
Prominent superficial blood vessels	0.4251516610813148	0.7449842032529563	0.4562812695489009	1.0	1.0	13	O75844,P36543	2
Intestinal polyp	0.4050191298165531	0.7419868096477363	0.4580953274016863	1.0	1.0	17	P20585,P42892,P78549	3
High myopia	0.461541443770659	0.7376936564585806	0.4607006278052004	1.0	1.0	10	O15460,P52788	2
Neoplasm of the breast	0.3778787965330361	0.7360400892070105	0.4617063009629678	1.0	1.0	26	Q9NYB0,P25054,P48735,P46100,P78549	5
Narrow palpebral fissure	0.42343912235176	0.7358629995454647	0.4618140766909913	1.0	1.0	13	Q03164,Q8WXI9,P38159,O95394	4
Tetraplegia tetraparesis	0.3663261759393347	0.7336966354515623	0.4631336495555753	1.0	1.0	47	P50336,Q5U5X0,P00846,O95831	4
Emg neuropathic changes	0.3759226911337874	0.7329590856597223	0.4635833840344348	1.0	1.0	24	Q9NR77,P22626,O14773,P39210	4
Waddling gait	0.3766003817653073	0.7320163929723285	0.4641585621892989	1.0	1.0	25	Q8TD16,Q4J6C6,Q9BTV4,P22626,P06753,P50402	6
Distal amyotrophy	0.3483009442731161	0.727558830738547	0.4668836899547466	1.0	1.0	55	Q9Y4W6,Q9NR77,Q9BQT8,Q99720,P35637,P39210	6
Ketonuria	0.4465832646055945	0.726911375296655	0.467280248294543	1.0	1.0	11	P53985	1
Porphyrinuria	0.7469425721308975	0.7249203520618173	0.4685008944371089	1.0	1.0	3	P50336	1
Elevated urinary dicarboxylic acid level	0.7469425721308975	0.7249203520618173	0.4685008944371089	1.0	1.0	3	P50336	1
Respiratory paralysis	0.7469425721308975	0.7249203520618173	0.4685008944371089	1.0	1.0	3	P50336	1
Elevated urinary delta aminolevulinic acid	0.7469425721308975	0.7249203520618173	0.4685008944371089	1.0	1.0	3	P50336	1
Abnormality of the lymph nodes	0.3759838405222524	0.7242559352629759	0.4689086240785771	1.0	1.0	38	P00813,P28070,O15460,P14174,P46100	5
T lymphocytopenia	0.4705962022468766	0.7236621329868667	0.4692731861009098	1.0	1.0	9	P00813,O95394	2
High anterior hairline	0.4061149129740633	0.7232335248826154	0.4695364253351572	1.0	1.0	15	O15344,Q9H2P0,P29372,P98172,Q9H3P2,Q8N3U4	6
Scleroderma	0.5349727823373208	0.7230423814711909	0.4696538466429636	1.0	1.0	5	Q9Y2U8,Q14739	2
Metatarsus adductus	0.4455202703655485	0.7216714616684466	0.4704964918763772	1.0	1.0	11	Q08J23,Q15392,Q9UBM7,O96028,Q03252	5
Increased sensitivity to ionizing radiation	0.5345164774014796	0.7212461729340116	0.470758068052248	1.0	1.0	5	Q96MG7,Q969G3	2
Abnormal form of the vertebral bodies	0.329079350373089	0.7206227897892518	0.4711416282990508	1.0	1.0	81	Q9Y619,P07237,Q10713,P00813,O95831,Q32P28,Q96HY6,P54802,Q14739,Q9UBM7,P48735,Q9H3P2,P46100	13
Abnormality of temperature regulation	0.3525271077067529	0.7191605369073388	0.4720420112700549	1.0	1.0	103	P61978,P00846,P03915,P35610,Q9NR77,P00813,P28070,O43772,O15460,P23786,Q14739,P14174,Q6UN15,Q9Y2V7	14
Bifid uvula	0.3766528281903533	0.7154170448919512	0.4743513832764157	1.0	1.0	34	P61978,Q9Y619,P48651,Q92796,Q15392,P34897,P78318,P52788,Q8NAT1	9
Cerebral hypoplasia	0.4436024229661518	0.7122341442534229	0.476319796764133	1.0	1.0	11	Q86XL3	1
Epiretinal membrane	0.74097242685328	0.7053983304391706	0.4805623827184258	1.0	1.0	3	P04439	1
Glioma	0.4293181744731386	0.700504032060134	0.4836125879956112	1.0	1.0	12	P20585,P48735	2
Abnormal blood transition element cation concentration	0.441058369691298	0.6997491648096358	0.4840839667474832	1.0	1.0	11	Q9Y276,Q10567,Q15477,P28288	4
Visual field defect	0.3638118754369367	0.698958478091352	0.4845779801175718	1.0	1.0	46	P56589,P00846,P03915,Q9H061,O75381,O15460,Q969G3	7
Disproportionate tall stature	0.37246851142947	0.698357536922823	0.4849536249770441	1.0	1.0	26	Q9H3P2,P52788,Q9NWM8,Q96PZ0,P36543	5
Biliary tract abnormality	0.3758102863449541	0.6979809222470341	0.4851891250191826	1.0	1.0	23	Q14739,P14174	2
Sagittal craniosynostosis	0.5875611986090741	0.6964682987622544	0.4861356036080528	1.0	1.0	4	P61978,Q92785	2
Bruising susceptibility	0.3741909042547534	0.696313688743774	0.4862324023865523	1.0	1.0	31	Q9NWM8,Q13126,P46100	3
Abnormal number of granulocyte precursors	0.7357259380097839	0.6962766695168509	0.4862555810594291	1.0	1.0	2	Q07020	1
Abnormal ldl cholesterol concentration	0.4153600123048784	0.6930997400202431	0.4882469608131661	1.0	1.0	13	P34913,P50402,P37268,Q8N511	4
Abnormal granulocytopoietic cell morphology	0.7359660574412565	0.6891404865588888	0.4907348640652837	1.0	1.0	3	Q14980,Q07020	2
Axial muscle weakness	0.58542187643312	0.6887216939397365	0.4909984215427512	1.0	1.0	4	Q8TD16	1
Focal t2 hyperintense basal ganglia lesion	0.3789622147444045	0.6886592696066826	0.4910377133688359	1.0	1.0	22	P03915,P00846	2
Peripheral axonal neuropathy	0.3488347864997383	0.6871095499489513	0.4920136966356472	1.0	1.0	53	Q9Y4W6,P00846,P03915,Q15067,P34897,O95831,P09651,P00403,P22626,P39210	10
Torsion dystonia	0.732789559543224	0.6859719182206241	0.4927308168419617	1.0	1.0	2	P11166	1
Tapered finger	0.3714858781706415	0.6853731185211671	0.4931085025497366	1.0	1.0	37	Q06136,P42892,P46100	3
Aplasia hypoplasia involving bones of the thorax	0.3725798246651375	0.6841499273236435	0.4938804974166508	1.0	1.0	32	Q8TAA9,Q9Y619,P48651,Q96HY6,Q14739,O75844,P98172,P98175	8
Distal peripheral sensory neuropathy	0.5250068370663401	0.6840319842594759	0.4939549692091947	1.0	1.0	5	P03915	1
Increased c peptide level	0.7321370309950956	0.6836883990893567	0.4941719505348028	1.0	1.0	2	Q16836	1
Abnormal nasolacrimal system morphology	0.4497922109053944	0.68208991274495	0.4951820986185031	1.0	1.0	10	Q13428	1
Broad philtrum	0.4372744144905469	0.681253776433039	0.495710925981274	1.0	1.0	11	P11166,Q96GM5,Q9UM00,O14497,Q969G3	5
Skin nodule	0.3886242613365743	0.678653393107862	0.4973575035352824	1.0	1.0	19	P48735,Q9NSE4,P35637,P34913	4
Abnormality of lipoprotein cholesterol concentration	0.3995242397557674	0.6784442465311707	0.497490062786698	1.0	1.0	14	P34913,P50402,P37268,Q8N511	4
Dyslexia	0.4603196215184535	0.6768178644685153	0.4985215221102348	1.0	1.0	9	P11166,Q13586,Q9H6K4,P25054	4
Abnormal femoral head morphology	0.3912073276946851	0.676429189042828	0.4987681901735308	1.0	1.0	18	O95831	1
Hypoplastic fifth fingernail	0.4759014761605204	0.6752319607203267	0.4995284038636143	1.0	1.0	7	O14497,Q969G3,Q92785,Q96GM5	4
Intestinal pseudo obstruction	0.4755241944525565	0.6735993860211428	0.5005660436264636	1.0	1.0	7	P61978,P03915	2
Progressive	0.3482133791315068	0.6726494994199801	0.501170302665984	1.0	1.0	103	Q5U5X0,Q9Y4W6,Q8N183,Q13126,Q9NR28,O95831,Q99720,P27544,P54802,P28288,P55263,P07942,P39210	13
Mitochondrial myopathy	0.3703025437417031	0.6721915336380847	0.5014617701453055	1.0	1.0	29	P03915,Q8N183,P00846	3
Abnormality of the scrotum	0.3644584080609792	0.6707812361291181	0.5023599026203018	1.0	1.0	43	Q96EK5,Q8TCJ2,Q9Y619,Q13428,Q9Y296,P46100,Q8IY37,Q9UBM7,Q96PZ0,P98172	10
Brachydactyly	0.3110396063879504	0.66850120096623	0.5038137155507307	1.0	1.0	65	Q9NX62,Q06136,Q9H173,P48651,O95831,P46100,Q9UBM7,Q14739,P98172	9
Ventricular escape rhythm	0.5205946223748064	0.6669163701465374	0.5048255538163113	1.0	1.0	5	Q9BTV4,P50402,Q8WXH0	3
Alternating esotropia	0.7288072857353451	0.6660803496918671	0.5053597438689059	1.0	1.0	3	P25054	1
Acne inversa	0.7265905383360503	0.664375128566409	0.5064502472444201	1.0	1.0	2	Q92542	1
Vitiligo	0.4733098584142334	0.6640331564954912	0.5066690901492568	1.0	1.0	7	P03915	1
Abnormal anatomic location of the heart	0.4573834221643803	0.6635405565663417	0.5069844137729076	1.0	1.0	9	O75844	1
External ear malformation	0.393617150409486	0.6632273548768628	0.5071849544023972	1.0	1.0	16	Q00577,P56589,O75381	3
Neoplasm of the pituitary gland	0.3960767794782212	0.6596800433439607	0.5094591760394771	1.0	1.0	14	P48735	1
Hypoplastic fifth toenail	0.4640054449888662	0.6576109325058802	0.5107881677936135	1.0	1.0	8	O14497,Q969G3,Q92785,Q96GM5	4
Symphalangism of middle phalanx of finger	0.7246329526916657	0.657600856962962	0.5107946437537809	1.0	1.0	2	Q15233	1
Abnormality of the proximal phalanx of the thumb	0.7246329526916657	0.657600856962962	0.5107946437537809	1.0	1.0	2	Q15233	1
Neoplasm of the male external genitalia	0.4639828461256802	0.6575114254452556	0.5108521268988069	1.0	1.0	8	Q8IY37,Q13423	2
Inflammation of the large intestine	0.3941117810764413	0.6562946178584583	0.5116345798531197	1.0	1.0	15	P08183	1
Macular thickening	0.471340735662372	0.6555492200273305	0.512114207434031	1.0	1.0	7	P04439	1
Abnormal renal pelvis morphology	0.351570688324436	0.6547309116530021	0.5126410193714115	1.0	1.0	50	P61978,P56589,O75718,P49454,O75381,P23786,Q9UBM7,P46100,P98175	9
Allergy	0.4710976890028538	0.6545035842106594	0.5127874187315489	1.0	1.0	7	P00813	1
Polymicrogyria	0.3195767173621358	0.653291943512334	0.5135680853070421	1.0	1.0	78	P56589,Q96N66,O00459,Q8TD16,Q10713,O75381,Q15392,P37268,P34897,P23786,Q8IY37,Q8NAT1,Q16625,P36543	14
Biliary atresia	0.7226753670472927	0.6508491321290668	0.5151438806013044	1.0	1.0	2	Q10713	1
Optic nerve hypoplasia	0.3867694758536556	0.6503284243484448	0.5154801002841571	1.0	1.0	18	P61978,O14936,P49454,P37268,Q8WXI9,Q9NVI7	6
Arthrogryposis multiplex congenita	0.3677785389287668	0.650237940198916	0.5155385372829744	1.0	1.0	34	Q8TD16,Q15392,Q96AA3,Q9UPT5,O75844,P06753	6
Abnormal lactate dehydrogenase level	0.3867099348919359	0.6499795648841565	0.5157054216545633	1.0	1.0	18	Q5JRX3,P23786,P41440,Q9H173	4
Cerebral edema	0.4543203443622049	0.649744274333901	0.5158574199829395	1.0	1.0	9	P23786	1
Cystic hygroma	0.4695875907455756	0.6480144816253598	0.516975583845154	1.0	1.0	7	Q14739	1
Ectropion	0.393828677052225	0.6475014608130633	0.5173074493763914	1.0	1.0	14	P61978,P29084,P25054	3
Abnormality of the tarsal bones	0.3763034844684931	0.6456934278053983	0.5184779177158565	1.0	1.0	21	O75844,Q9UPT5	2
Incomplete penetrance	0.3663843053530281	0.6446856603955722	0.5191309107923006	1.0	1.0	29	O14979,P00846,P36551,P03915,Q9NTZ6,P50995,Q92733,Q969G3	8
Reduced forced vital capacity	0.572758906677146	0.6433208338799145	0.5200159404142297	1.0	1.0	4	Q9BQT8	1
Neoplasm of fatty tissue	0.429309300388875	0.6426348860945872	0.5204610408173846	1.0	1.0	11	P53680,P03915,P25054	3
Progressive gait ataxia	0.4411737143230004	0.6418254108521332	0.5209865486201153	1.0	1.0	10	P00846	1
Accessory spleen	0.4903184075700602	0.6397981882280922	0.5223038106412328	1.0	1.0	6	P49454	1
Underdeveloped supraorbital ridges	0.4172387149642652	0.6396780835360176	0.5223819067320579	1.0	1.0	12	P56589,O75381	2
Abnormally large globe	0.4597172010090749	0.6387837573726199	0.5229636161769358	1.0	1.0	8	O00459	1
Abnormal circulating carbohydrate concentration	0.3640863756900369	0.6386200535605414	0.5230701324056417	1.0	1.0	39	Q8N183,P22695,Q70HW3,O95831,Q9BWD1,O43676	6
Erythrocyte inclusion bodies	0.5128150626316116	0.636991183815361	0.5241305862214207	1.0	1.0	5	O14936,Q9Y606	2
Corneal opacity	0.3480711139435332	0.6246771434515407	0.5321829773093865	1.0	1.0	50	Q06136,P56589,P34913,P49454,O75381,Q9UBM7,O75844,Q9H3P2,Q16625	9
Polydactyly	0.358604908031969	0.6243248344543493	0.5324142775304677	1.0	1.0	43	P61978,O00459,P49454,Q10713,Q15067,Q00577,P17252,Q9UBM7,Q14739,Q9Y2V7,Q9H3P2,P98172,P98175	13
Dysdiadochokinesis	0.4019830639978392	0.6233997135774227	0.5330218861542659	1.0	1.0	13	Q6DKK2,P41440	2
Shoulder girdle muscle weakness	0.4244116778408192	0.6191180005849161	0.5358386257827554	1.0	1.0	11	O14979,Q8TD16,P06753	3
Abnormality of the mitochondrion	0.331462134945168	0.6168011804153288	0.5373658733052276	1.0	1.0	92	P03915,P00846,Q4J6C6,Q8N183,Q70HW3,O43772,P23786,O43676	8
Abnormal vertebral morphology	0.3408774621911797	0.6163359484401664	0.5376728176356314	1.0	1.0	101	P61978,Q9Y619,O75718,P07237,Q10713,P00813,O95831,Q32P28,Q96HY6,P54802,Q14739,Q9UBM7,Q8IY37,P48735,Q9H3P2,P46100	16
Abnormal muscle fiber protein expression	0.4620809326317899	0.6159609251581633	0.5379203093997136	1.0	1.0	7	Q9BTV4,P50402,P02545,Q8WXH0	4
Gonadal dysgenesis	0.4235739296841496	0.6151140656026459	0.5384793937135597	1.0	1.0	11	P82650,Q8IY37,P29084	3
Abnormal globus pallidus morphology	0.4617647058823548	0.6146183776412405	0.5388067748425998	1.0	1.0	7	P10515,O75306,P24928,Q9BU61,P22033,Q92947	6
Abnormal number of incisors	0.5066660154961634	0.6135822648570137	0.5394914060426523	1.0	1.0	5	Q8N3U4,P38919	2
Frequent falls	0.3607596843118253	0.6051984894915765	0.5450471193574704	1.0	1.0	37	Q9NR77	1
Thin skin	0.3569927590034906	0.6043202963101342	0.545630714946947	1.0	1.0	24	O75844,Q13126,Q9Y619,P48651	4
Abnormal arterial physiology	0.3579320358276975	0.59875345282028	0.5493373064148428	1.0	1.0	26	O15460,O75844,Q9NWM8	3
Arnold chiari type i malformation	0.558979604912232	0.5948830082423006	0.5519216760512367	1.0	1.0	4	Q15233	1
Zonular cataract	0.4301963066835595	0.5912865684030331	0.5543284276104601	1.0	1.0	10	P11166,Q99797,Q9H6K4,P08670	4
Flexion contracture of digit	0.310337018618199	0.5878745873502678	0.5566164749839331	1.0	1.0	63	P10412,Q9Y619,Q14004,O75844,P42892,P98172	6
Short palpebral fissure	0.3566926201049985	0.5854217076756597	0.5582641960649084	1.0	1.0	27	Q9Y619,Q14004,Q03164,P55795,O75844,P98175	6
External ophthalmoplegia	0.3663651844682258	0.584030594775914	0.5591997283081169	1.0	1.0	21	Q5U5X0,P03915,Q8N183,Q9GZY8,Q5ST30	5
Abnormal circulating estrogen level	0.4170022710224526	0.5839059778355232	0.5592835711169679	1.0	1.0	11	Q969G3	1
Abnormal t cell proliferation	0.7020412742230617	0.5820232579406441	0.5605510149735591	1.0	1.0	3	O95394	1
Reduced antigen specific t cell proliferation	0.7020412742230617	0.5820232579406441	0.5605510149735591	1.0	1.0	3	O95394	1
Cutaneous cyst	0.7020234986945356	0.5819686670781941	0.5605877861949362	1.0	1.0	3	Q8TAA9,P25054	2
Epidermoid cyst	0.7017944535073293	0.580324038974862	0.5616961194474899	1.0	1.0	2	P25054	1
Mixed hypo and hyperpigmentation of the skin	0.7013707571801678	0.579965224191391	0.561938069444019	1.0	1.0	3	P52788,P55265	2
Myotonia	0.4535106125280581	0.579812409018665	0.5620411285117162	1.0	1.0	7	Q00577,P50402	2
Pili torti	0.701141924959211	0.578166696802069	0.5631515807676053	1.0	1.0	2	Q9Y276	1
Decreased ldl cholesterol concentration	0.5541465410168349	0.5781560343772512	0.5631587787389363	1.0	1.0	4	P37268	1
Abnormal aldolase level	0.497227619932073	0.5781069201778808	0.5631919352407535	1.0	1.0	5	Q9H173	1
Atresia of the external auditory canal	0.404210083527366	0.5754020876131899	0.5650193925953113	1.0	1.0	12	Q13428	1
Muscle fiber inclusion bodies	0.4150798430066251	0.5748467550360953	0.5653949426489793	1.0	1.0	11	P06753,O43676	2
Diaphyseal thickening	0.6993581345042917	0.5738028255293642	0.5661012365056215	1.0	1.0	3	Q14739	1
Fatiguable weakness of proximal limb muscles	0.4952868567834897	0.5708849764802757	0.5680776154533824	1.0	1.0	5	Q92734,P06753	2
Partial agenesis of the corpus callosum	0.4141680688247102	0.5705617055872815	0.5682967830521153	1.0	1.0	11	Q15392	1
Progressive cerebellar ataxia	0.3543478086478394	0.5612506289597547	0.5746266930863038	1.0	1.0	38	Q9Y619,Q8N183,O14773,P35637,Q8NI60,P41440	6
Pericardial effusion	0.4704344985298842	0.5606234110683413	0.5750542885029861	1.0	1.0	6	P47985,P04062,P49748,P02545,Q14108	5
Abnormal talus morphology	0.3731884351573185	0.5596240757033367	0.5757358794802641	1.0	1.0	17	O75844	1
Narrow palate	0.3526246395143435	0.557266048547197	0.5773456688800751	1.0	1.0	40	P61978,Q14696,Q9Y619,P29084,P48651,Q15233,P23786,P52788,P25054,Q12873	10
Impaired smooth pursuit	0.3748844230708231	0.5519899402948117	0.5809552455181619	1.0	1.0	15	P41440	1
Hyperammonemia	0.3533758143461837	0.5510187763273884	0.5816208032674903	1.0	1.0	37	Q9Y619,P23786,O43772,P35610	4
Somatic sensory dysfunction	0.3325679392147143	0.5504940101162208	0.5819805841506933	1.0	1.0	99	P50336,Q13217,P00846,Q9Y619,Q9NR77,O95831,O15460,P54802,P41440,P39210	10
Abnormal nasal base	0.4096165179562802	0.5492860017857795	0.5828091923045746	1.0	1.0	11	O14497,Q969G3,Q13868,Q96GM5	4
Urogenital sinus anomaly	0.6910904866469003	0.5487302366888873	0.5831905925734913	1.0	1.0	3	Q8IY37	1
Abnormal circulating follicle stimulating hormone concentration	0.445704991020432	0.5473464629477721	0.5841407286531264	1.0	1.0	7	Q969G3	1
Anemia of inadequate production	0.3060493220859223	0.5441128465911724	0.5863638206969712	1.0	1.0	63	Q9BQT8,P46100,P41440	3
Abnormality of upper limb joint	0.339002439850271	0.5425608444525953	0.5874322043615012	1.0	1.0	106	Q9Y619,Q9H173,Q9NR77,Q15392,O95831,P37268,Q8WVM7,Q15233,P23786,O75844,P42892,P98172	12
Cachexia	0.3676405689755225	0.5403152197552266	0.5889796640435767	1.0	1.0	18	Q99720	1
Opisthotonus	0.3512908146471668	0.5380275315593959	0.5905580414994169	1.0	1.0	23	Q99720	1
Synostosis of metacarpals metatarsals	0.6873368146214163	0.5374793191735144	0.590936566469761	1.0	1.0	3	O60828,Q15233	2
Choanal stenosis	0.68733681462141	0.5374793191734961	0.5909365664697737	1.0	1.0	3	Q9H9Y6,P48651	2
Abnormal basal ganglia mri signal intensity	0.3512261270187893	0.5371178590624891	0.5911862053636208	1.0	1.0	30	P03915,P00846,Q8NI60	3
Congenital contracture	0.3494512206404757	0.5335432980836704	0.5936575471063537	1.0	1.0	40	Q8TD16,Q9Y6X9,Q15392,Q96AA3,Q9UPT5,Q9HD42,O75844,P06753	8
Abnormal thyroid morphology	0.3509982600135313	0.5317148524415348	0.5949235035414997	1.0	1.0	36	Q13428,P00813,P20585,P25054,O14497,P48735,P42892,Q969G3	8
Recurrent acute respiratory tract infection	0.6867862969004863	0.5314806604351007	0.5950857395110545	1.0	1.0	2	Q15149	1
Death in infancy	0.3217246252740243	0.5288844672895295	0.5968855976808503	1.0	1.0	57	P46100,Q15067,O75381,O75718	4
Abnormal length of corpus callosum	0.6851549755301741	0.5262728073209925	0.5986986736900359	1.0	1.0	2	P11177	1
Abnormal ureter morphology	0.3599934144840089	0.5262447683166523	0.5987181525747642	1.0	1.0	20	O75844,P23786	2
Hypoplastic fingernail	0.3696728256102543	0.5244651578286385	0.5999550475000273	1.0	1.0	15	P48651,Q96GM5,Q92785,Q14739,O14497,Q969G3	6
Contractures of the joints of the lower limbs	0.3278273276541225	0.5201828748141759	0.6029361201478718	1.0	1.0	54	Q8TD16,O00459,P48651,P37268,Q99720,P23786,Q86XL3,P35637,P50402,P36543	10
Palpebral edema	0.4810581319399175	0.5187607478859054	0.6039275934007751	1.0	1.0	5	Q12756,A6NHR9,Q14331,O00170	4
Lower limb hypertonia	0.402418670232893	0.5160540839772659	0.6058166358372636	1.0	1.0	11	P46100	1
Long palm	0.6798302872062828	0.5152389352045297	0.606386064553158	1.0	1.0	3	P16435,P52788	2
Prematurely aged appearance	0.346923453068323	0.5147865542469476	0.6067021821318463	1.0	1.0	40	P48651,Q13126,Q9Y4I1,O75844,P36543	5
Abnormal sharpey fiber morphology	0.4575981733001708	0.5110061521466361	0.6093467488855782	1.0	1.0	6	P53680,P02545	2
Decreased proportion of cd4 positive helper t cells	0.4786260665958199	0.5100051703131897	0.6100478395623743	1.0	1.0	5	O95394	1
Ethylmalonic aciduria	0.4781188765512781	0.5081852201863718	0.6113234549052737	1.0	1.0	5	P38117,P53597,P16219,Q16134	4
Abnormality of the pulmonary vasculature	0.3476978057374131	0.5071647130564222	0.6120392519346343	1.0	1.0	35	O75718	1
Abnormality of macular pigmentation	0.6768944217383019	0.5066373417036479	0.6124093023549859	1.0	1.0	3	Q9UM00	1
Abnormal blistering of the skin	0.3607229909745224	0.5017037111914183	0.6158759535702696	1.0	1.0	18	P50336,Q06136	2
Hyperlipidemia	0.3458227895947224	0.50055642683507	0.6166833347777321	1.0	1.0	30	O75844,P23786,P28070,P22830	4
Cyclopia	0.6769983686786216	0.5005473245755672	0.6166897421883972	1.0	1.0	2	Q8N3U4	1
Median cleft lip	0.6769983686786216	0.5005473245755672	0.6166897421883972	1.0	1.0	2	Q8N3U4	1
Panhypopituitarism	0.6769983686786216	0.5005473245755672	0.6166897421883972	1.0	1.0	2	Q8N3U4	1
Abnormal dura mater morphology	0.6769983686786216	0.5005473245755672	0.6166897421883972	1.0	1.0	2	Q8N3U4	1
Fatigable weakness of skeletal muscles	0.4272522446544196	0.5004544115128321	0.6167551487336829	1.0	1.0	8	Q92734,P06753	2
Clonus	0.3461347056447056	0.4999503569714271	0.6171100330639354	1.0	1.0	31	Q9BQT8,Q99720,P35637	3
Poor appetite	0.3884162328600234	0.4997298237427328	0.6172653296843764	1.0	1.0	12	P46100	1
Abnormal circulating ige level	0.4545470471977999	0.499407609115052	0.6174922597892418	1.0	1.0	6	P00813,O95394	2
Atrophy degeneration involving the corticospinal tracts	0.3771637376777222	0.4987212026583572	0.6179758055459037	1.0	1.0	13	P00846	1
Pituitary adenoma	0.4089875251237852	0.4964907966821927	0.6195481790234743	1.0	1.0	10	P48735	1
Abnormal insulin level	0.3445408587138944	0.495527065221856	0.6202281219588426	1.0	1.0	23	O75844	1
Difficulty walking	0.3024105804662828	0.4937218641384477	0.6215026218423017	1.0	1.0	76	P00846,Q9NR77,Q15067,Q99720,P35637,Q969G3	6
Abnormality of the tongue	0.3133448566447507	0.493570729695092	0.6216093766947686	1.0	1.0	86	P61978,P56589,P48651,Q9BQT8,Q13428,Q10713,O75381,O95831,O15460,Q9UBM7,O75844,P46100,Q969G3	13
Increased circulating lactate dehydrogenase concentration	0.386652530822381	0.4914539119726765	0.6231054415027593	1.0	1.0	12	P23786,P41440	2
Proximal tubulopathy	0.3407519052871032	0.4911200686763873	0.6233415281531935	1.0	1.0	25	Q8N183,P03915,O43676	3
Long hallux	0.5279626494327934	0.4902360681672651	0.6239668608217281	1.0	1.0	4	P52788	1
Portal vein thrombosis	0.673409461663943	0.4893983997207454	0.6245596688029238	1.0	1.0	2	Q9NWH9	1
Splanchnic vein thrombosis	0.673409461663943	0.4893983997207454	0.6245596688029238	1.0	1.0	2	Q9NWH9	1
Epigastric pain	0.673409461663943	0.4893983997207454	0.6245596688029238	1.0	1.0	2	Q9NWH9	1
Plagiocephaly	0.3447853697326007	0.4873724774896871	0.6259943940543218	1.0	1.0	33	O14936,Q10713,Q15233,Q8IY37,Q96F07,P98172,Q01105	7
Macrodontia	0.3597699425564138	0.4863081112479337	0.6267487291536362	1.0	1.0	17	Q00577,Q96PZ0,Q8IY37	3
Abnormality of male internal genitalia	0.4235260646304268	0.4851368676831921	0.6275792614153914	1.0	1.0	8	Q8IY37,P49959,P25054	3
Prolonged neonatal jaundice	0.3594009607428667	0.4843292864242418	0.6281521946717519	1.0	1.0	17	O14936,O15118,P39210,P36551	4
Generalized limb muscle atrophy	0.4231671620695429	0.4836684486391638	0.6286211884877788	1.0	1.0	8	Q9Y606,P06753	2
Aplasia hypoplasia of the sternum	0.6684467799254485	0.4822028634659023	0.6296618428952059	1.0	1.0	3	Q9Y619	1
Infantile spasms	0.3418964294467672	0.4820991214289525	0.6297355339383945	1.0	1.0	28	O14936,P03915,P00846	3
Abnormality of the musculature of the hand	0.3437438377784069	0.4818349400718951	0.6299232064269722	1.0	1.0	37	Q9NR77	1
Mesomelia	0.4492546647272788	0.4794797962734995	0.6315973378934876	1.0	1.0	6	Q14739	1
Poor suck	0.3456115853766367	0.4791858832300149	0.6318063960788496	1.0	1.0	22	O75306,P22695,Q5T160,O60828,Q15233,P40939,Q9UBM7,Q8N3U4	8
X linked recessive inheritance	0.3251782575293623	0.4791780164814748	0.63181199204388	1.0	1.0	53	Q92796,O14936,P38159,O95831,Q15233,P52788,P46100	7
Subcutaneous nodule	0.3598167568573227	0.4788677676974102	0.6320327024987518	1.0	1.0	16	P48735,Q9NSE4,P35637	3
Increased ldl cholesterol concentration	0.4146113082708271	0.477137122390616	0.6332644818252984	1.0	1.0	9	P34913,P50402,Q8N511	3
Hyperlipoproteinemia	0.4146113082708271	0.477137122390616	0.6332644818252984	1.0	1.0	9	P34913,P50402,Q8N511	3
Abnormal uvula morphology	0.3424849903821138	0.475177655751297	0.6346603518681277	1.0	1.0	38	P61978,Q9Y619,P48651,Q92796,Q15392,P34897,P78318,P52788,Q8NAT1	9
Lower limb spasticity	0.3026431583829591	0.4730759210576372	0.6361590149729981	1.0	1.0	78	Q9Y4W6,P00846,Q9Y619,Q8N183,O95831,Q99720,P35637,Q6DKK2,P07942,P46100	10
Tachypnea	0.355433524912889	0.4726697128669094	0.6364488378897917	1.0	1.0	18	P22695,Q9Y619,P35610	3
Abnormality of circulating adrenocorticotropin level	0.3927462089324521	0.4722693734420349	0.6367345279898284	1.0	1.0	11	P46100	1
Hypoglycemic coma	0.4126863107294697	0.4691231862864736	0.6389815867092599	1.0	1.0	9	P40939,Q16836,Q13423	3
Colpocephaly	0.4263192573579429	0.4688808871078233	0.6391547786438905	1.0	1.0	7	Q9NVI1,O14974,Q8N3U4,Q8IY37	4
Shoulder girdle muscle atrophy	0.519661436830706	0.4634214687494596	0.643062293054709	1.0	1.0	4	P06753	1
Abnormal 3rd finger morphology	0.6639477977161456	0.4605260159864902	0.6451387021325485	1.0	1.0	2	Q14683	1
Periorbital edema	0.3380928882254773	0.4556897984908776	0.6486130588896648	1.0	1.0	23	Q12769,P28070,Q9BW27,Q8NFH4,Q14C86,Q14331	6
Non hodgkin lymphoma	0.3992444545785868	0.4544364571694178	0.6495147172510185	1.0	1.0	10	P00813	1
Fetal ultrasound soft marker	0.3550235096312623	0.4539828302301362	0.64984118480905	1.0	1.0	16	P61978,O75381,P98172	3
Sudden loss of visual acuity	0.6616639477977114	0.4536731919856434	0.6500640647789899	1.0	1.0	2	P35222	1
Dysmenorrhea	0.6616639477977109	0.4536731919856415	0.6500640647789913	1.0	1.0	2	P02545	1
Hypersomnia	0.6616639477977062	0.4536731919856285	0.6500640647790006	1.0	1.0	2	O95551	1
Juvenile cataract	0.4224485600675398	0.4536274692277101	0.6500969790224307	1.0	1.0	7	Q8WVX9	1
Skeletal dysplasia	0.3374814478597502	0.4502859544269522	0.6525042652822974	1.0	1.0	41	P56589,P07237,Q13428,O75381,O95831,Q96HY6,Q14739	7
Neuronal loss in basal ganglia	0.4614630960156889	0.4496313512176305	0.6529762782708222	1.0	1.0	5	O75306,Q9BU61,P42858,Q99986	4
Abnormal morphology of the radius	0.3776052679997775	0.4496149655415937	0.6529880952297369	1.0	1.0	12	Q32P28,P98175	2
Multiple rows of eyelashes	0.6568915518155356	0.4495739691364512	0.6530176612411405	1.0	1.0	3	Q9Y606	1
Stroke like episode	0.4406056311495516	0.4474623742392505	0.6545412487561486	1.0	1.0	6	P00403,P03915,Q96AA3	3
Sclerosis of skull base	0.6559533312136154	0.4469665972080061	0.6548991777168498	1.0	1.0	3	Q14739	1
Young adult onset	0.3973219470842376	0.4462639723156894	0.6554065774862341	1.0	1.0	10	P31483,O15118,P51649,P36551	4
Abnormal proportion of cd8 positive t cells	0.512745906273358	0.441514866209956	0.6588403015208217	1.0	1.0	4	O95394	1
Ophthalmoparesis	0.2951413712443039	0.4413691215138244	0.658945792934647	1.0	1.0	74	Q9Y4W6,P00846,Q5U5X0,P03915,Q10713,Q8N183,O75695,O00217,O15460,Q8IY37,Q9GZY8,P06753,Q5ST30,Q969G3	14
Abnormal intraocular pressure	0.438703177316294	0.4405157980385786	0.6595635728022973	1.0	1.0	6	P04439,Q15043	2
Proptosis	0.3259039788717643	0.4401286282759544	0.6598439483865257	1.0	1.0	50	P61978,Q9NX62,O75718,P07237,Q32P28,P52788,O75844,Q9H3P2,Q969G3	9
Splenomegaly	0.3133494116166364	0.4386615176907483	0.6609068148169959	1.0	1.0	91	P36551,O14936,Q10713,P00813,P28070,Q15392,Q96HY6,P54802,Q14739,P14174,P28288,Q9Y2V7,P46100,Q16625	14
Abnormality of the brainstem white matter	0.652716725852025	0.4380216105321309	0.6613706178996561	1.0	1.0	3	Q10713	1
Multicystic kidney dysplasia	0.3518105522498072	0.4375126186539279	0.661739626767321	1.0	1.0	16	Q10713,O75381,Q9UBM7	3
Type i diabetes mellitus	0.3748073085400755	0.4368952311554264	0.6621873305712329	1.0	1.0	12	P03915	1
Visual acuity test abnormality	0.4577111054086461	0.4367856791376663	0.6622667857711542	1.0	1.0	5	Q969G3	1
Multiple enchondromatosis	0.4375987249912047	0.4364994728636435	0.6624743816010119	1.0	1.0	6	P48735	1
Dyskinesia	0.2863709125182599	0.4320916060605265	0.6656748351602082	1.0	1.0	67	O75569,P00846,Q14139,P03915,Q9H173,O14936,P11166,O75306,P35610,Q96N66,P49959,O00217,Q00577,Q96F07,Q9BTV4,Q01105	16
Exercise induced muscle cramps	0.4362988243252624	0.4317880773714919	0.6658954456736617	1.0	1.0	6	P53985	1
Abnormality of the clitoris	0.3452187627283858	0.4283386890370599	0.668404555168995	1.0	1.0	19	Q9Y619,Q8IY37,O75381,Q9UBM7	4
Nuclear cataract	0.6490198434683818	0.427900249425697	0.6687237455041513	1.0	1.0	3	P08670	1
Widened cerebral subarachnoid space	0.6490036522234078	0.4278561480888639	0.6687558552266697	1.0	1.0	3	P03915	1
Abnormality of the autonomic nervous system	0.3241662490861891	0.4261782552335403	0.669977961055024	1.0	1.0	50	P50336,Q10713,Q15067,P41440,P42892,P46100	6
Impaired vibratory sensation	0.3331744176029486	0.4256792386843043	0.6703415922851761	1.0	1.0	28	Q9NR77	1
Embryonal neoplasm	0.3364197598999762	0.4245859609402669	0.6711385290310727	1.0	1.0	22	Q96GM5,P20585,Q8IY37,P25054,O14497,Q969G3	6
Decreased methylmalonyl coa mutase activity	0.6512234910277233	0.4229461822955834	0.6723345270195877	1.0	1.0	2	Q9H3L0	1
Decreased adenosylcobalamin	0.6512234910277233	0.4229461822955834	0.6723345270195877	1.0	1.0	2	Q9H3L0	1
Congenital nystagmus	0.3475486285962828	0.4219559875510409	0.6730571428959671	1.0	1.0	17	Q96PZ0,P00846	2
Syringomyelia	0.6458877284595358	0.4194063935492922	0.6749191522898457	1.0	1.0	3	Q9Y2U8,P35222	2
Retinopathy	0.332877824777019	0.41925470700736	0.6750299942892817	1.0	1.0	29	Q9Y4I1,Q9H3P2,P00846	3
Abnormality of the auditory canal	0.3467396188112934	0.4177875429119032	0.676102459526136	1.0	1.0	17	Q13428	1
Ependymoma	0.6452349869451668	0.4176457606746808	0.6762061341508099	1.0	1.0	3	O75874,P25054	2
Hypoplasia of the brainstem	0.332485255503589	0.4167431452657764	0.6768662923964857	1.0	1.0	29	Q96EK5,O14936,Q10713,Q96KP1,Q9UPT5,Q9Y320,Q9HD42,P07942,Q6ZXV5	9
Meningioma	0.4124969509537877	0.4151175352254522	0.6780558633360148	1.0	1.0	7	Q969G3	1
Abnormality of metacarpal epiphyses	0.5038335638395126	0.4138959184532184	0.6789503331589097	1.0	1.0	4	O96028,P51812	2
Aplasia hypoplasia involving the metacarpal bones	0.3335736972014549	0.4080242991757357	0.6832558354195712	1.0	1.0	22	Q32P28,Q14739,Q9H173	3
Tetraparesis	0.3329977201788917	0.4061752270629431	0.6846138548980696	1.0	1.0	35	P50336,Q5U5X0,P00846	3
Adrenocorticotropic hormone deficiency	0.6450244698205491	0.4051836304260148	0.6853425366790438	1.0	1.0	2	O00170	1
Muscle abnormality related to mitochondrial dysfunction	0.3327388810600608	0.4044421250539736	0.6858876285230564	1.0	1.0	35	P03915,Q8N183,P00846	3
Abnormal macroscopic urine appearance	0.3439503345095068	0.4035086145267567	0.6865740987173354	1.0	1.0	17	Q12769,P36551,P23786,Q9BW27,Q8NFH4,Q14C86	6
Progressive sensorineural hearing impairment	0.3863420082320764	0.4004495478310678	0.6888254364730417	1.0	1.0	10	P03915,Q9NSE4	2
Tube feeding	0.29700912444409	0.3980110423043553	0.6906220461704391	1.0	1.0	61	P61978,P17480,Q14139,Q96N66,Q9HA77,O60762,P37268,Q15233,Q99720,P35637,Q9H2P0,Q96EY7,Q9GZY8,P06753,Q8N3U4,Q01105	16
Neoplasm of the peripheral nervous system	0.3408666753027101	0.3951944209193699	0.692699409753637	1.0	1.0	18	P46100	1
Brittle hair	0.3420919010271237	0.3940766542045954	0.693524446534826	1.0	1.0	17	Q9Y276,P29084,Q15477,Q9NVI7,Q9Y487,O75844	6
Microscopic hematuria	0.4971724524323091	0.3937276537570119	0.6937821223834453	1.0	1.0	4	Q9BW27	1
Retinal hemorrhage	0.4254616970378524	0.3931949963032589	0.6941754650951766	1.0	1.0	6	P36543	1
Wide intermamillary distance	0.3271072329649462	0.3897596788851061	0.6967142619928932	1.0	1.0	23	Q96EK5,P61978,Q9UM00,Q96KP1,P23786,P52788,Q9UBM7	7
Tissue ischemia	0.337406702807379	0.3865052378854043	0.69912252416007	1.0	1.0	19	O75844	1
Juvenile onset	0.3291483422392116	0.3841506921831121	0.7008667615450535	1.0	1.0	39	Q9NR77,O15118,P54802,P41440,P39210,P50402	6
Basal ganglia calcification	0.4041254737367077	0.3835681947007202	0.7012985170479455	1.0	1.0	7	P03915	1
Dry skin	0.3292216756571454	0.3834781501166435	0.7013652680000877	1.0	1.0	33	Q06136,P00813,Q9NYB0,P37268,Q9Y2V7	5
Visual loss	0.3185500945031954	0.3817133759915973	0.702673977432273	1.0	1.0	50	P00846,P03915,Q13428,Q10713,O14773,O15460,Q969G3	7
Hepatic necrosis	0.3902285486067689	0.3786776058210255	0.7049272850036217	1.0	1.0	9	Q9NWH9,P35222,Q16836,P40939	4
Exaggerated cupid s bow	0.4210433691495756	0.3778282144601332	0.705558212552595	1.0	1.0	6	P61978	1
Gangrene	0.380419222518647	0.3763848000307123	0.7066308444573997	1.0	1.0	10	O15460	1
Retrognathia	0.2896946587169511	0.3748264271641496	0.7077895587414853	1.0	1.0	75	Q4J6C6,Q13428,P37268,Q15392,Q9UPT5,Q9Y2V7,Q16625,O75844	8
Intracranial hemorrhage	0.3240295962101895	0.3717737308492584	0.7100613237733544	1.0	1.0	23	O75844,P23786	2
Gastrointestinal inflammation	0.3271859356966105	0.3714981119476199	0.710266561948758	1.0	1.0	22	P08183	1
Atrial arrhythmia	0.4007615071559234	0.3711229834097901	0.710545933219213	1.0	1.0	7	P50402	1
Intellectual disability moderate	0.2868512002866162	0.3685679361454517	0.7124497987375316	1.0	1.0	73	P61978,O95394,Q96N66,Q4J6C6,O14936,Q01105,P48651,Q92796,P29084,Q10713,P34897,P38159,Q8NI60,P25054,Q969G3	15
Elbow flexion contracture	0.3197798542310727	0.3677869014517816	0.7130321366532795	1.0	1.0	24	P48651,P37268,P23786,Q9BTV4,P50402	5
Ocular pain	0.487361713525072	0.3648028547165654	0.7152585739907291	1.0	1.0	4	Q15043	1
Skeletal muscle hypertrophy	0.3233952588097234	0.3647291523699036	0.7153135950588103	1.0	1.0	44	Q9NR77,P61978,P46100	3
Abnormality of the alveolar ridges	0.3988490216102581	0.3641094425309172	0.7157762859863914	1.0	1.0	7	Q15392,Q9UBM7	2
Abnormal nipple morphology	0.2984851771769768	0.3640986345569169	0.7157843564180244	1.0	1.0	59	Q96EK5,P61978,P56589,P29084,Q15067,Q9UM00,Q96AA3,Q15233,P23786,Q96KP1,P52788,Q9UBM7,Q9H3P2,P98172	14
Supernumerary nipple	0.3773097765938651	0.3639449214408058	0.7158991391095422	1.0	1.0	10	P61978,Q15233	2
Facial edema	0.3190416532183549	0.363392925775992	0.7163113855331025	1.0	1.0	24	Q12769,P28070,Q9BW27,Q8NFH4,Q14C86,Q14331	6
Hemiparesis	0.3373141745521157	0.3628320535535012	0.7167303459345138	1.0	1.0	15	P00403,P03915,Q969G3	3
Scaling skin	0.3920566343500757	0.3616321851801643	0.717626909936963	1.0	1.0	8	O75844	1
Septo optic dysplasia	0.6229223779228179	0.3595220174656879	0.719204609783179	1.0	1.0	3	Q8N3U4	1
Abnormality of the frontal hairline	0.281144332125617	0.3583890925102892	0.7200521532100321	1.0	1.0	65	O60885,P36551,O95831,Q9H2P0,P98172,Q9H9Y6,Q969G3,P46783,Q13428,Q92785,O14497,Q9H3P2,Q9UM00,P61313,Q08J23,Q07020,P29372,Q8N3U4,Q96GM5	19
Abnormality of the musculature of the upper limbs	0.2824227383817167	0.3577836897251853	0.7205051974131291	1.0	1.0	70	P50336,P46783,P61313,O14979,P36551,Q8TD16,Q13586,Q9Y6X9,Q9NR77,Q9BQT8,Q8WXH0,Q07020,Q9NVV4,Q14331,Q9Y487,Q9BTV4,P06753,P50402	18
Avascular necrosis	0.3247200245034501	0.3576491377071755	0.7206059007570216	1.0	1.0	22	O75844,Q9H173	2
Thick nasal alae	0.356227116363171	0.3553709216797751	0.7223117301680244	1.0	1.0	12	P11166,Q96GM5,Q92785,O14497,Q969G3	5
Parkinsonism	0.3173065456105269	0.3531201057382679	0.72399840040584	1.0	1.0	24	Q99720,P35637	2
Fetal akinesia sequence	0.432122433855679	0.3529944820331779	0.7240925773023399	1.0	1.0	5	P06753	1
Primary adrenal insufficiency	0.3349337518145837	0.3516823248932266	0.7250765175220506	1.0	1.0	15	P56589,O75381,Q969G3	3
Hiatus hernia	0.4310907903331195	0.3497666029678262	0.7265138647683287	1.0	1.0	5	P57740,Q8WUM0,P54886,Q9NPF4	4
Exertional dyspnea	0.3337155728560659	0.3482638513643716	0.7276420389756613	1.0	1.0	16	O75844	1
Bifid tongue	0.6182848015019983	0.347965719588752	0.7278659283982911	1.0	1.0	3	P61978	1
Nephropathy	0.3298332789972124	0.3471580852107043	0.7284725580277249	1.0	1.0	19	Q10713,P03915	2
Keratoconjunctivitis	0.3633580936042831	0.3465744363266155	0.7289110537733183	1.0	1.0	11	Q9NSE4,Q14739	2
Single naris	0.6161879895561372	0.3428025181233722	0.7317470314326233	1.0	1.0	3	Q8N3U4,Q14683	2
Cerebral hemorrhage	0.3525221468655339	0.3397812224273523	0.734021289826964	1.0	1.0	12	P23786	1
Morphological abnormality of the corticospinal tract	0.3321941262881565	0.3389938839344158	0.7346143375838934	1.0	1.0	15	P00846	1
Elevated circulating glutaric acid concentration	0.4779627815866669	0.3380096248964944	0.7353559346106919	1.0	1.0	4	P38117,Q16134,Q92947	3
Abnormal echocardiogram	0.6139033942558751	0.3372212750303032	0.7359501004744704	1.0	1.0	3	Q969Y2,P49748	2
Edema of the dorsum of hands	0.6189233278955866	0.3346079627655032	0.7379208374322408	1.0	1.0	2	Q9Y263	1
Edema of the dorsum of feet	0.6189233278955866	0.3346079627655032	0.7379208374322408	1.0	1.0	2	Q9Y263	1
Abnormality of the upper respiratory tract	0.3048471986937583	0.3331620761373751	0.739011943239146	1.0	1.0	93	Q15165,Q13428,P28070,Q92804,O15460,Q96HY6,P35637,P54802,Q14739,P50995,P46100,Q969G3	12
Bifid scrotum	0.4077888221682793	0.333106938548237	0.7390535619992367	1.0	1.0	6	Q9UBM7	1
Cutaneous syndactyly	0.383859019197342	0.3314357729604701	0.7403153474680164	1.0	1.0	8	Q9Y2U8,Q9Y619,P98175	3
Long toe	0.3689286555101508	0.3311168093209325	0.7405562551425073	1.0	1.0	10	Q8WXI9,P23786,P52788	3
Ovarian cyst	0.3407204059793968	0.3309214784460736	0.7407037977094981	1.0	1.0	13	P20585,P78549	2
Subcutaneous hemorrhage	0.3199161067571716	0.3302059162230537	0.7412443768292889	1.0	1.0	42	Q9NWM8,Q13126,P46100,Q16625	4
Hand polydactyly	0.3184228275881949	0.3293086226906395	0.7419224273066296	1.0	1.0	29	O00459,Q10713,Q15067,Q9UBM7,Q14739,Q9H3P2,P98172,P98175	8
Chorioretinal coloboma	0.3886598029033506	0.3275319742695161	0.7432655634214378	1.0	1.0	7	Q10713	1
Hypoplasia of the olfactory bulb	0.6159869494290282	0.3271163171404194	0.7435799108404557	1.0	1.0	2	Q13509	1
Increased circulating androgen concentration	0.6156606851549689	0.3262897218829164	0.7442051638325311	1.0	1.0	2	P04637	1
Long penis	0.6156606851549666	0.3262897218829108	0.7442051638325353	1.0	1.0	2	O00170	1
Decreased activity of mitochondrial complex iii	0.4052777503112605	0.3248792199885097	0.7452724845906344	1.0	1.0	6	Q9Y584	1
Aplasia hypoplasia of the uterus	0.3285900565431612	0.3241806433198414	0.7458012758321411	1.0	1.0	16	Q16740	1
Incoordination	0.2756355099085125	0.32400656516801	0.7459330638440047	1.0	1.0	67	P00846,Q9Y619,Q9NR77,Q10713,Q15067,Q6DKK2	6
Punctate cataract	0.4728180894462063	0.3237417193670824	0.7461335828806415	1.0	1.0	4	P08670	1
Hemolytic anemia	0.3201203026772432	0.3235333195182649	0.7462913778626439	1.0	1.0	34	P00813,P22830,P36551,P41440	4
Abnormality of epiphysis morphology	0.3060588368286698	0.3220235267489526	0.7474348713162557	1.0	1.0	53	Q9Y619,Q9H173,O75381,O95831,Q96HY6,Q9UBM7,Q14739	7
Subsarcolemmal accumulations of abnormally shaped mitochondria	0.6137030995105951	0.321354702349549	0.7479416063397699	1.0	1.0	2	Q8TCS8	1
Abnormality of the breast	0.3128504832087522	0.3205913000257489	0.74852013146429	1.0	1.0	102	Q15067,Q96AA3,Q15233,P23786,Q9UBM7,P98172,Q96KP1,Q8IY37,P25054,Q9H3P2,P46100,Q96EK5,P56589,Q9Y619,Q9NYB0,Q9UM00,P52788,Q8NI60,P48735,P78549,P61978,P29084,P49959	23
Azoospermia	0.3656707553965348	0.3186445685498039	0.7499960528952074	1.0	1.0	10	Q8IY37	1
Abnormality of the supraorbital ridges	0.3175025696897987	0.3179763079890998	0.7505029084298704	1.0	1.0	22	P56589,P38159,O75381	3
Thick eyebrow	0.318096369206947	0.3177480968754506	0.7506760243784729	1.0	1.0	42	Q96EK5,O60885,P51812,Q08J23,Q03164,Q96GM5,Q9UM00,O95831,Q9Y2U8,P15586,Q92785,Q9NSE4,O14497,P98175,Q969G3	15
Aplasia cutis congenita over the scalp vertex	0.61141924959216	0.3156506562813411	0.7522676837017359	1.0	1.0	2	Q15149	1
Congenital localized absence of skin	0.61141924959216	0.3156506562813411	0.7522676837017359	1.0	1.0	2	Q15149	1
Abnormality of the 1st metacarpal	0.3791929907393612	0.3146621691167885	0.7530181708196146	1.0	1.0	8	Q9UQE7,O60885,O60828,Q15233,Q9NVI1	5
Rib fusion	0.3849242977006811	0.3144693688574336	0.7531645774019506	1.0	1.0	7	Q9H3P2	1
Positional foot deformity	0.2996989005320711	0.3139222574684434	0.7535800852695944	1.0	1.0	90	P61978,P10412,Q9Y619,Q9NR77,Q15392,P52788,Q8NI60,Q9UBM7,Q9NWM8,Q9H3P2,P46100,P36543	12
Abnormal circulating proteinogenic amino acid concentration	0.3174888244966417	0.3119949346742991	0.7550443728822103	1.0	1.0	32	P55263,P41440	2
Facial diplegia	0.3782523781700724	0.3113185512445831	0.7555584656783485	1.0	1.0	8	P34897	1
Redundant neck skin	0.3835623403384988	0.3097549630011834	0.7567473024812483	1.0	1.0	7	Q9Y487,P36543	2
Stenosis of the external auditory canal	0.4005227049983721	0.3095230170317521	0.7569237061510852	1.0	1.0	6	P16435,P08754,O96028,P61254,P55011	5
Dystrophic fingernails	0.3527742925059215	0.3045088747081196	0.7607402325435941	1.0	1.0	11	O75844	1
Encephalocele	0.3526957407883083	0.3042038197655695	0.7609726149110758	1.0	1.0	11	Q13428,Q10713	2
Myopathic facies	0.3985909930506333	0.3033701453174457	0.7616077948530062	1.0	1.0	6	Q00577	1
Lymphoma	0.3111303440001581	0.3032200831386128	0.7617221449097964	1.0	1.0	26	P46100,O95394,P00813,P78549	4
Impaired distal proprioception	0.6055464926590448	0.3012505448417066	0.7632234496490664	1.0	1.0	2	O14802	1
Supernumerary spleens	0.3809357242395009	0.3007370785885668	0.7636149922436466	1.0	1.0	7	P49454	1
Abnormal glycosylation	0.314140872525072	0.2999598024910495	0.7642078174872169	1.0	1.0	22	Q9Y2V7,Q8TCJ2,Q8N511	3
Micropenis	0.2909537553381532	0.2986187059108361	0.7652309910907893	1.0	1.0	59	Q8TCJ2,Q9Y619,O14936,Q10713,Q9UBM7,P42892,P46100	7
Abnormal paranasal sinus morphology	0.3078439205836241	0.2985275598780987	0.7653005447594021	1.0	1.0	24	P28070,P46100	2
Acquired abnormal hair pattern	0.3801322853035886	0.2979983830229948	0.7657043977521116	1.0	1.0	7	O75844,P25054	2
Increased adipose tissue	0.5972584856396885	0.2979925435031518	0.7657088546660038	1.0	1.0	3	O14802,P02545	2
Abnormality of bone mineral density	0.3376717417055558	0.2966916943262145	0.7667018986513394	1.0	1.0	130	O75718,P07237,Q13126,O95831,Q13428,Q32P28,Q96HY6,P54802,Q14739,Q8IY37,O75844,Q9H3P2,P48651,Q15392,P52788,Q9NSE4,P61978,P29084,Q9NWM8	19
Abnormality of long bone morphology	0.3658712596296399	0.2963961298544823	0.7669275805522371	1.0	1.0	162	Q9NX62,O75718,P07237,Q9NR77,O14936,Q13126,P37268,O95831,Q9UBM7,Q96PZ0,P98172,Q9H173,O75381,Q32P28,Q96HY6,Q14739,O75844,P46100,P56589,Q9Y619,P48651,P00813,P48735	23
Abnormality of the columella	0.321889884164933	0.2935821460450409	0.7690772202710989	1.0	1.0	16	P49454,P55795,P36543	3
Chordee	0.3953471731588059	0.2931515053486804	0.7694063495716568	1.0	1.0	6	P16435,O14974,P48651	3
Dermal atrophy	0.3104042556897183	0.2928189625660135	0.7696605332098945	1.0	1.0	27	O75844,Q15392	2
Hypoproteinemia	0.6016313213702995	0.2918671617866932	0.770388191915512	1.0	1.0	2	P49748	1
Molar tooth sign on mri	0.4597025787722164	0.2887038231811841	0.772808036755908	1.0	1.0	4	Q10713	1
Telangiectasia of the skin	0.3198781102261586	0.2869452183710193	0.774154266394681	1.0	1.0	17	P46100	1
Concentric hypertrophic cardiomyopathy	0.5918376632855783	0.2857774643962176	0.775048569435407	1.0	1.0	3	P03915	1
Corneal erosion	0.4096531915913073	0.2856192897237173	0.7751697275966305	1.0	1.0	5	P39210	1
Hamartoma	0.3190639562751503	0.2832332783712922	0.7769980198849689	1.0	1.0	17	P20585,P48735	2
Hypoplasia of the iris	0.4573086358868709	0.2825224176369154	0.7775429596290704	1.0	1.0	4	O96028,Q13586	2
Contractures of the large joints	0.5970636215334314	0.28114210764333	0.7786014058136794	1.0	1.0	2	Q9Y263	1
Osteopetrosis	0.5893397831470335	0.2802440947407955	0.7792902387329323	1.0	1.0	3	Q15392	1
Biparietal narrowing	0.363371128481437	0.2792067249926375	0.7800861829894101	1.0	1.0	9	Q10713	1
Elevated lactate pyruvate ratio	0.4554358472086088	0.2777339412780489	0.7812166038362185	1.0	1.0	4	P53597,Q96RP9,O96000	3
Aspiration pneumonia	0.3063580917204963	0.2761121844689612	0.782461902468579	1.0	1.0	26	Q96EY7,O95721,Q96GM5,P78318,Q00577,P20700,Q92734,O14497,P06753,Q8N3U4,Q969G3	11
Scarring alopecia of scalp	0.5944535073409352	0.2751220545384733	0.7832224680851161	1.0	1.0	2	Q15149	1
Inflammatory abnormality of the eye	0.3123055483354418	0.2724805809497869	0.7852525207511869	1.0	1.0	39	P04439,P28070,Q9NSE4,Q14739,P14174	5
Temperature instability	0.3670269823771033	0.2724348020606163	0.7852877161409069	1.0	1.0	8	Q8N3U4,P35270	2
Abnormal serum iron concentration	0.4525693127151396	0.2704857354682535	0.7867865895260955	1.0	1.0	4	Q15477	1
Abnormal hair laboratory examination	0.3645890067970959	0.2642473871085384	0.7915892986719613	1.0	1.0	8	Q15477,P29084	2
Sparse eyebrow	0.3100197206648146	0.2641504382071589	0.7916639995737396	1.0	1.0	33	Q96EK5,P61978,Q14696,P60953,Q9UM00,Q00577,P52788,Q9Y2V7,O75844	9
Aplasia hypoplasia of the skin	0.3012147255495037	0.2611786337706321	0.7939547542087957	1.0	1.0	51	Q9Y619,P48651,Q13126,Q15392,Q15126,Q9NWM8,O75844,Q9H3P2	8
Telangiectasia	0.3094565344450249	0.26082401630927	0.7942282229795103	1.0	1.0	33	P03915,P00846,P46100	3
Calvarial hyperostosis	0.4007794491234171	0.2608035442552027	0.7942440110950069	1.0	1.0	5	P09651,P22626	2
Atopic dermatitis	0.400322213424821	0.2595539395959812	0.7952078696970468	1.0	1.0	5	O95394	1
Abnormality of the endometrium	0.3627867341321857	0.2582560404334189	0.7962093103472176	1.0	1.0	8	P78549	1
Widened subarachnoid space	0.3052485644166324	0.2577909440587505	0.796568253927852	1.0	1.0	28	P03915,O95831	2
Panhypogammaglobulinemia	0.3836304231174881	0.2574690102892889	0.7968167352996742	1.0	1.0	6	P29084	1
Decreased muscle mass	0.3132042087999052	0.2572191702457505	0.7970095860435202	1.0	1.0	14	Q8TAA9,Q02809,P52788,P36543	4
Abnormal atrioventricular valve physiology	0.3084605016594749	0.256946246757597	0.7972202689894932	1.0	1.0	43	O75844,Q15233,P46100,O00459	4
Abnormality of the musculature of the thigh	0.3619806426193395	0.255593351494781	0.798264852661714	1.0	1.0	8	Q9BTV4,O14979,P50402,Q8WXH0	4
Focal white matter lesions	0.3980719818528991	0.2534464413230431	0.799923243832128	1.0	1.0	5	O00443,O00584,Q9H2P0	3
Severe demyelination of the white matter	0.5840130505709511	0.2518428920915696	0.8011625024666524	1.0	1.0	2	Q96C36	1
Abnormal uvea morphology	0.2962418494227132	0.2515582399059762	0.8013825404295909	1.0	1.0	93	P56589,Q9Y619,Q9NR77,Q13428,P49454,Q10713,Q9Y4I1,O75381,O14936,P04439,Q9UBM7,P14174,Q9H3P2	13
Diabetes insipidus	0.3386531193785201	0.2514796893198537	0.8014432633105619	1.0	1.0	11	P35222,O15460,Q8N3U4,Q9BZH6,Q14683	5
Hypoplasia of the ear cartilage	0.5750652741514357	0.2498009127718361	0.802741313831854	1.0	1.0	3	Q8WUM0,Q9NPF4	2
Posteriorly rotated ears	0.3038973411249321	0.2459809000811399	0.8056970178554514	1.0	1.0	101	P56589,Q14696,Q9Y619,Q14004,Q4J6C6,Q10713,Q15392,P37268,O75381,Q9H3P2,Q8NAT1,P23786,Q9UBM7,P42892,P46100	15
Meningitis	0.3589293499734862	0.2456107531485447	0.8059835643735274	1.0	1.0	8	O15460,Q8TAA9	2
Apraxia	0.2844995415774711	0.2446016331094256	0.806764899429055	1.0	1.0	59	Q9Y4W6,Q9Y619,P11166,Q10713,O14773,Q9Y296,P49959,Q15233,Q00577,P35637,Q6DKK2,Q96PZ0,Q5JTZ9,Q12873,P35270	15
Progressive hearing impairment	0.328052060214088	0.2432433942010665	0.8078168524106524	1.0	1.0	12	P03915,Q9NSE4	2
Gastric ulcer	0.5797716150081446	0.2427565064409127	0.8081940306181483	1.0	1.0	2	Q8N5K1	1
Spontaneous recurrent epistaxis	0.5797716150081446	0.2427565064409127	0.8081940306181483	1.0	1.0	2	P35579	1
Bulbar palsy	0.3437000681289562	0.2391577980470665	0.8109832254572895	1.0	1.0	10	P35637	1
Mildly elevated creatine kinase	0.3060636454593145	0.2387356712629777	0.8113105547169228	1.0	1.0	20	Q16836,Q7Z406,P31483,P09651,Q92734,P40939,P06753,P39210	8
Prenatal movement abnormality	0.2856306758649002	0.2361651307567915	0.8133045358937205	1.0	1.0	58	P56589,Q4J6C6,Q70HW3,Q9UBM7,Q96F07,O75844,Q9H3P2	7
Abnormality of the fontanelles or cranial sutures	0.3068570907727984	0.2359287456372172	0.8134879620015427	1.0	1.0	105	P61978,Q9NX62,P56589,Q14696,Q9Y619,O75718,P07237,P48651,P29084,O75381,O95831,Q32P28,Q00577,P98172,O75844,P46100,P36543	17
Crumpled long bones	0.5681470844716496	0.2357828081433812	0.8136012092058915	1.0	1.0	3	O75718	1
Incisor macrodontia	0.3082111524479778	0.2351334627187727	0.8141051471735288	1.0	1.0	15	Q00577,Q96PZ0	2
Abnormal incisor morphology	0.3082111524479778	0.2351334627187727	0.8141051471735288	1.0	1.0	15	Q00577,Q96PZ0	2
Severe combined immunodeficiency	0.360240276981745	0.2333017669921668	0.8155270866013917	1.0	1.0	7	P00813	1
Retinal dysplasia	0.3490963810633605	0.2309261021641007	0.8173722121283604	1.0	1.0	9	Q10713	1
Emotional lability	0.2923875406152502	0.2300113323130714	0.8180829638723324	1.0	1.0	54	Q15165,Q8N183,Q92804,P35637,P50995	5
Papillary renal cell carcinoma	0.3891283620746138	0.2298789235095726	0.8181858543808496	1.0	1.0	5	Q9NWH9,Q92733	2
Neoplasm of the pancreas	0.3002417994326939	0.2288851244794018	0.8189582026353643	1.0	1.0	22	Q92878,Q01844,Q9NYB0,P49959,P25054,P78549	6
Abnormal urine phosphate concentration	0.5725938009787802	0.2278742761517188	0.8197439812947482	1.0	1.0	2	P35670	1
Abnormal drinking behavior	0.5725938009787802	0.2278742761517188	0.8197439812947482	1.0	1.0	2	Q8N5K1	1
Hyperphosphaturia	0.5725938009787802	0.2278742761517188	0.8197439812947482	1.0	1.0	2	P35670	1
Childhood onset	0.3049737094060774	0.2271372523984501	0.8203170177353445	1.0	1.0	37	Q9NR77,Q5JRX3,P22830	3
Abnormal metatarsal morphology	0.2994765863872706	0.2251420045462768	0.8218688047871876	1.0	1.0	22	Q15392,Q9UBM7,Q9H173	3
Pain	0.3655378928884501	0.2249678164203433	0.8220043112978686	1.0	1.0	171	P36551,Q9NR77,O14936,P23786,P35637,P50995,Q969G3,P00846,Q15165,P28070,O15460,Q96HY6,Q14739,P14174,O75844,P42892,P46100,P50336,Q92804,Q6UN15,P48735,Q70HW3	22
Abnormality of circulating enzyme level	0.2920757470578847	0.2229679226170791	0.8235604721044674	1.0	1.0	92	Q5JRX3,Q9Y584,Q9H173,Q9BTV4,O43772,O95831,Q8NAT1,P23786,Q9NWM8,Q9Y2V7,P53985,P39210,P50402	13
Variable expressivity	0.2792819282003128	0.2227404690783703	0.8237375027119194	1.0	1.0	80	Q9Y4W6,P03915,Q8TD16,Q9NR77,O60762,Q13868,P11166,Q70HW3,Q9H061,P49959,O00217,Q00577,P00403,Q8NI60,P06753	15
Abnormal metacarpal morphology	0.2988117116580979	0.2224253472313463	0.8239827817388412	1.0	1.0	28	Q32P28,Q9NX62,Q14739,Q9H173	4
Congenital diaphragmatic hernia	0.3032037992749862	0.2198737526564088	0.8259694784490199	1.0	1.0	19	Q9H3P2,P98172	2
Spastic tetraparesis	0.2926466495074511	0.2164882592055658	0.8286071759775147	1.0	1.0	24	P00846	1
Abnormal midbrain morphology	0.3682588440213054	0.2137422198676536	0.8307480853888507	1.0	1.0	6	Q10713	1
Headache	0.2709972347066218	0.2123641710616171	0.831822935617579	1.0	1.0	63	P53680,Q8TAA9,Q12769,P00846,P03915,O15460,P23786,Q9BW27,P00403,P25054,P06753,Q969G3	12
Increased circulating antibody level	0.302593125015304	0.2118191957128226	0.832248092296183	1.0	1.0	17	P00813,P28070,O95394	3
Decreased activity of mitochondrial complex iv	0.3021285600756471	0.2110530513232794	0.8328458746057807	1.0	1.0	15	Q9HA77,Q70HW3,Q9Y584	3
Abnormal cell proliferation	0.426818530649995	0.2099466050129411	0.8337093471887456	1.0	1.0	4	O95394	1
Abnormal forearm bone morphology	0.3019314991140048	0.2091043795171077	0.834366755919127	1.0	1.0	17	Q32P28,P98175	2
Papilledema	0.2976855366494516	0.207372005934229	0.8357193434353654	1.0	1.0	21	P25054,Q96PZ0,Q969G3	3
Broad phalanx of the toes	0.3654071200950802	0.2060348765619737	0.8367636681560748	1.0	1.0	6	P98172	1
Erythroid hyperplasia	0.4247527387670941	0.2054586876026333	0.8372137720476331	1.0	1.0	4	Q9Y606	1
Duplication involving bones of the feet	0.2996413401107614	0.2014919709630748	0.8403139069382473	1.0	1.0	15	Q10713,Q14739	2
Motor polyneuropathy	0.3236946766342545	0.199567106196726	0.8418191556857662	1.0	1.0	11	P50336	1
Enchondroma	0.3391032743667874	0.1992560768100126	0.8420624358092206	1.0	1.0	9	P48735	1
Chromosomal breakage induced by ionizing radiation	0.4207955504713785	0.1970191076292305	0.8438125851111709	1.0	1.0	4	Q969G3	1
Mania	0.3148484828852566	0.196320587930974	0.8443592480934501	1.0	1.0	12	P51812,P03915,P16615,Q92766,P00403	5
Spastic paraparesis	0.2983922484401129	0.1960355325166009	0.8445823546135915	1.0	1.0	18	Q9Y4W6,Q9Y619,Q9NVV4,Q6DKK2,Q8WVX9	5
Tongue atrophy	0.3739237495206861	0.192498298284316	0.8473519007578885	1.0	1.0	5	Q14331	1
Cerebral inclusion bodies	0.3210446424653099	0.1908595616181456	0.8486356228631964	1.0	1.0	11	O96008,P22626,P09651,O15118	4
Mutism	0.3046572716555911	0.1900896032841482	0.8492389169246513	1.0	1.0	13	P22626,P35637	2
Polycystic liver disease	0.5434073107049555	0.1897101516951213	0.8495362653746401	1.0	1.0	3	P14314,Q9UGP8	2
Thick lower lip vermilion	0.296493464348014	0.1875354526438624	0.8512408295531644	1.0	1.0	45	Q9Y619,P38159,P52788,P46100,Q969G3	5
Abnormal mitochondria in muscle tissue	0.2891234604280969	0.1860958954415369	0.8523695606559643	1.0	1.0	23	Q9Y4W6,P03915,Q8N183,O00217,O43676	5
Proximal amyotrophy	0.2952493338844532	0.1850249019476565	0.8532095038522214	1.0	1.0	15	O14979,Q13586,Q9Y6X9,Q92734,P35637,Q9BTV4,P50402	7
Cholestasis	0.2640720627558684	0.1844105449077656	0.8536913980440031	1.0	1.0	70	P36551,O14936,O15118,O75381,P28288,Q9UBM7,Q14739,P55263,Q9Y2V7,P39210,Q16625	11
Deviation of the thumb	0.2944004118411236	0.1819042463194204	0.8556578720165389	1.0	1.0	15	Q9UQE7,O60885,P38919,Q9Y3E5,P60953,P34897,P36776,Q9UBM7,Q14683	9
Slow saccadic eye movements	0.3256143486367538	0.1804180568632199	0.8568243795949513	1.0	1.0	10	Q9Y4W6,P34897	2
Paraplegia paraparesis	0.2701609790037877	0.1799196588299311	0.8572156415314798	1.0	1.0	76	P56589,Q9Y4W6,P00846,Q9Y619,P29084,Q8N183,O95831,P35637,Q6DKK2,P07942,P46100	11
Low set posteriorly rotated ears	0.2667325079499894	0.1763010123346256	0.8600574667628245	1.0	1.0	63	Q4J6C6,Q10713,O75381,P37268,Q15392,Q9UBM7,Q9H3P2	7
Neoplasm of the small intestine	0.3537390471410633	0.1758761260275171	0.8603912616414342	1.0	1.0	6	P78549	1
Delayed closure of the anterior fontanelle	0.3082063385106288	0.174224149987756	0.8616893068316458	1.0	1.0	12	Q9Y487,P51812,O75381,P36543	4
Confusion	0.2927840231860266	0.1737895318563844	0.8620308715714962	1.0	1.0	16	O96008,Q16836,P36551,Q9Y619,P11166	5
Infantile muscular hypotonia	0.2595310543830872	0.1737564234566963	0.8620568923954988	1.0	1.0	67	P17480,P00846,P36543,P03915,P60953,O14936,O75306,O60762,Q8N3U4,Q96GM5,Q15043,Q8WXI9,P52788,Q9H2P0,O14497,Q9GZY8,P46100,Q969G3	18
Pigmentary retinopathy	0.2955837735732313	0.1736490004158097	0.8621413202201542	1.0	1.0	42	P03915,Q8N183,P00846	3
Difficulty standing	0.3527455529486785	0.1734123603652358	0.8623273101272384	1.0	1.0	6	P52788,Q8WVX9	2
Increased serum lactate	0.2988014048758881	0.1731093043019079	0.8625655115908843	1.0	1.0	104	Q5U5X0,P03915,P00846,P35610,Q8N183,Q70HW3,O95831,Q8NI60	8
Pilomatrixoma	0.5326604436677932	0.1717091770261838	0.8636661707530764	1.0	1.0	3	P25054	1
Oromotor apraxia	0.4079204392056093	0.1710094866059268	0.8642163062454726	1.0	1.0	4	Q8N3U4,Q14683	2
Unilateral renal agenesis	0.2922698333688036	0.1709041461687475	0.8642991364591728	1.0	1.0	17	Q9Y2V7,Q86XL3	2
Broad neck	0.3147720235224033	0.1708620836723725	0.8643322110271838	1.0	1.0	11	P11166,Q8IY37,P78318	3
Spastic paraplegia	0.2905202806521873	0.1701971758025456	0.8648550727002335	1.0	1.0	49	P00846,Q9Y619,Q8N183,O95831,P46100	5
Megalocornea	0.3142117763020422	0.1691185837639882	0.865703367743613	1.0	1.0	11	Q9H3P2	1
Hyperinsulinemic hypoglycemia	0.3369666872571045	0.1658948761729302	0.8682396798444827	1.0	1.0	7	P53985	1
Abnormal conjunctiva morphology	0.287782464842422	0.1652593791820259	0.8687398298647719	1.0	1.0	28	P29084,P28070,P34897,Q9NSE4,Q14739	5
Vertical supranuclear gaze palsy	0.3366778673578484	0.1651187585202101	0.8688505085034799	1.0	1.0	7	O15118	1
Lissencephaly	0.287335946779947	0.1637770678295328	0.8699066451155857	1.0	1.0	51	Q96EK5,O00139,P11177,O00459,O14936,O95721,Q15392,P20700,Q96T60,P23786,Q86XL3,Q9Y320,P07942,Q8NAT1,Q6ZXV5,Q16625,P36543	17
Neoplasm of the rectum	0.3048385340051938	0.1634225294599899	0.8701857653874767	1.0	1.0	12	P78549	1
Decreased circulating cortisol level	0.3312834092287091	0.1625561195547891	0.8708679388607745	1.0	1.0	8	Q969G3	1
Abnormal sacrum morphology	0.2859601771000946	0.162278895360986	0.871086233447014	1.0	1.0	27	P61978,Q8TAA9,Q03164,Q14739,Q9H3P2	5
Biconcave vertebral bodies	0.3592423252775916	0.1597505959120391	0.873077542894066	1.0	1.0	5	P32322,Q14807,O00170,Q96AY3	4
Cranial asymmetry	0.4002611818478648	0.156602137377402	0.8755584179477147	1.0	1.0	4	O96028,P40855,O14802	3
Posterior pharyngeal cleft	0.4002251603169241	0.1565362722452142	0.8756103305141578	1.0	1.0	4	P29372	1
Abnormal pyramidal sign	0.316450013799106	0.1561742587106281	0.8758956663212047	1.0	1.0	124	Q13217,Q9Y4W6,P00846,Q9Y619,P29084,Q92796,Q9NR77,O14773,Q15067,O95831,P34897,Q99720,P35637,Q8NI60,P41440,Q6DKK2	16
Abnormality iris morphology	0.2640919401756086	0.1556236299904502	0.876329697836588	1.0	1.0	73	P56589,Q9NR77,P49454,Q13428,Q10713,Q9Y4I1,O75381,Q9UBM7,Q9H3P2	9
Abnormal brain lactate level by mrs	0.3169627365813664	0.1546668056804672	0.8770840002612315	1.0	1.0	10	P00403,P03915	2
Increased megakaryocyte count	0.5210834563250706	0.1536954336781286	0.877849885398897	1.0	1.0	3	O75533	1
Minicore myopathy	0.5288743882544702	0.1508953969457384	0.8800582316158969	1.0	1.0	2	Q9Y281	1
Slender build	0.2992107339258286	0.145990688266747	0.8839287393552857	1.0	1.0	12	P17252,Q15233	2
Progressive external ophthalmoplegia	0.3139170059501031	0.1459797981695094	0.8839373362982235	1.0	1.0	10	P03915,Q5ST30	2
Type 2 muscle fiber atrophy	0.3940581129611465	0.1455218877185762	0.8842988357871038	1.0	1.0	4	Q8TCS8,Q9NP81,Q13586	3
Inability to walk	0.2769429265469372	0.1454680122795893	0.8843413695828364	1.0	1.0	86	P61978,P00846,Q9NR77,Q99720,P52788,P35637	6
Ridged nail	0.3246149183986239	0.1446413451669108	0.8849940517473676	1.0	1.0	8	P98172	1
Colon cancer	0.2903794308139057	0.142995316535968	0.8862938800450153	1.0	1.0	13	P20585,P78549	2
Sideroblastic anemia	0.3280909971828895	0.1427497499599296	0.8864878242395178	1.0	1.0	7	Q9Y606,O75027	2
Paraplegia	0.2828198987071814	0.1419517712156665	0.887118100802976	1.0	1.0	52	P00846,Q9Y619,Q8N183,O95831,P46100	5
Cerebral white matter hypoplasia	0.3276660211675956	0.1416784967192641	0.887333960716665	1.0	1.0	7	P11166	1
Chorioretinal degeneration	0.3390372157780884	0.1411307178019568	0.8877666772142598	1.0	1.0	6	Q9Y619	1
Reduced tendon reflexes	0.3510757206984372	0.1404414488380896	0.8883112109134537	1.0	1.0	165	Q9NR77,Q15067,O95831,Q99720,P35637,P41440,P50402,P00846,Q9H173,O75381,P54802,Q96F07,P50336,Q13217,P56589,Q8TD16,Q9BQT8,Q9NSE4,Q8NAT1,P39210,P61978,P03915,P35610,P29084,Q10713	25
Abnormal iris pigmentation	0.2840996278496331	0.1402208303304091	0.888485514273778	1.0	1.0	18	Q9Y4I1,O75381	2
Abnormal metabolism	0.284721380781888	0.1393705613702985	0.8891573339211558	1.0	1.0	50	Q8TCJ2,Q8N511,P41440	3
Synostosis involving bones of the hand	0.3041928041451178	0.1391484094618411	0.8893328750667742	1.0	1.0	11	Q15233,P48651	2
Progressive distal muscle weakness	0.5108488304034667	0.138958594531742	0.8894828683107661	1.0	1.0	3	Q7Z406	1
Upslanted palpebral fissure	0.267362844027979	0.1369813103236435	0.8910455680456455	1.0	1.0	78	P56589,Q14004,P60953,Q92796,Q13868,O75381,Q9UM00,Q15233,Q00577,Q8WXI9,Q86XL3,P52788,Q9NVI7,Q9UBM7,P46100	15
Suicidal ideation	0.5086353924290997	0.1359173785919976	0.8918865968379	1.0	1.0	3	Q14203	1
Abnormality of the parathyroid gland	0.279426006701384	0.1340685920607483	0.8933483352919278	1.0	1.0	22	P48735	1
Abnormality of the nasal tip	0.2901496758097637	0.1338819332608735	0.8934959368268143	1.0	1.0	100	Q14696,P60953,O14936,O95831,Q00577,P23786,P98172,Q969G3,P25054,O14497,Q9Y2V7,O75844,P42892,P46100,P36543,Q96EK5,Q03164,Q8WXI9,P52788,P61978,Q92796,P38159,P17252,Q96GM5	24
Accelerated skeletal maturation	0.309370553393456	0.1333866975477624	0.8938875652183993	1.0	1.0	10	P10412	1
Erythroderma	0.3155191706671226	0.132086395693707	0.8949159562911801	1.0	1.0	9	P00813	1
Abnormality of the diencephalon	0.2839186043744273	0.13069922431453	0.8960132459887202	1.0	1.0	31	P11166,Q96KP1,Q9UPT5,Q96EY7,Q9GZY8,Q8N3U4,Q969G3	7
Genital neoplasm	0.2846048585274244	0.129677093655784	0.8968219061327718	1.0	1.0	32	Q13423,Q92878,P49959,P20585,Q8IY37,P25054,P48735,P78549	8
Abnormal elasticity of skin	0.2695877072659119	0.1285139246746413	0.8977422793017633	1.0	1.0	59	O75844,Q13126	2
Abnormal cutaneous elastic fiber morphology	0.5028431498482255	0.1282029381015663	0.8979883749902264	1.0	1.0	3	P36543	1
Prominent veins on trunk	0.5028431498482255	0.1282029381015663	0.8979883749902264	1.0	1.0	3	P36543	1
Abnormal circulating apolipoprotein concentration	0.5028431498482255	0.1282029381015663	0.8979883749902264	1.0	1.0	3	P36543	1
Abnormal subcutaneous fat tissue distribution	0.5028431498482256	0.1282029381015663	0.8979883749902264	1.0	1.0	3	P36543	1
Abnormality of metacarpophalangeal joint	0.3831337205865439	0.127291310982104	0.898709837197166	1.0	1.0	4	O60828,Q15233	2
Tall stature	0.2814775413843524	0.1255543517315796	0.9000846989529392	1.0	1.0	51	P61978,Q13423,Q9Y296,Q9H3P2,Q15233,P17252,P52788,Q9NWM8,Q96PZ0,P36543	10
Focal segmental glomerulosclerosis	0.2793315828442098	0.1249643641214186	0.9005517624501032	1.0	1.0	20	P03915,Q12769,P00403,Q9BW27,Q8NFH4,Q14C86	6
Aplasia hypoplasia involving bones of the lower limbs	0.2658875737640418	0.1245922220303334	0.900846386335195	1.0	1.0	78	Q9NX62,Q9Y619,Q9H173,P00813,O95831,Q96HY6,Q9UBM7,Q9H3P2	8
Abnormal heart rate variability	0.3812008512219287	0.1242360173134843	0.9011284054406457	1.0	1.0	4	Q8N3U4,Q14683	2
Paraparesis	0.2734003846540955	0.1242016802487883	0.901155591895344	1.0	1.0	24	Q6DKK2,Q9Y619,P35637	3
Nephrotic syndrome	0.2750950423008555	0.1228326345410218	0.902239631306833	1.0	1.0	23	Q12769,O95721,P00813,Q9BW27,Q8IY37	5
Hypoplasia of teeth	0.2777613621870889	0.1221483162112805	0.9027815575305524	1.0	1.0	21	Q9Y2V7,O75844	2
Thyroid carcinoma	0.2765906155772109	0.1212696744457781	0.9034774389995932	1.0	1.0	15	O14497,Q969G3,P25054	3
Elevated urinary monocarboxylic acid level	0.4964099216710104	0.1200457425101391	0.9044469126520868	1.0	1.0	3	P51649,O96000	2
Joint stiffness	0.2768182465019483	0.1199116248992177	0.9045531555872266	1.0	1.0	54	O15460,O75844,P48735,P46100	4
Intestinal malrotation	0.2736347624684369	0.1180959209208456	0.9059916554697436	1.0	1.0	25	P49454,Q15392,Q14739	3
Abnormal muscle fiber alpha dystroglycan	0.5044045676998232	0.1179922940364191	0.9060737636984764	1.0	1.0	2	Q14118	1
Calf muscle pseudohypertrophy	0.5044045676998232	0.1179922940364191	0.9060737636984764	1.0	1.0	2	Q14118	1
Congenital muscular dystrophy	0.5044045676998188	0.1179922940364137	0.9060737636984806	1.0	1.0	2	P02545	1
Genetic anticipation	0.5011419249591987	0.1141374686306055	0.9091288206174712	1.0	1.0	2	P54886	1
Mild hearing impairment	0.287989625335535	0.1136022139252861	0.9095531322567318	1.0	1.0	12	Q96GW9,Q92796	2
Phenotypic variability	0.2907319330950757	0.113379325445759	0.909729829914262	1.0	1.0	103	P36551,Q9NR77,Q13868,Q00577,P50995,Q92733,Q969G3,O14979,P00846,Q9Y4W6,Q9H061,Q8TD16,Q9NTZ6,Q8NI60,P06753,P03915,Q70HW3,P49959,O00217,P00403	20
Abnormal blood gas level	0.4903847859900179	0.1127940407673013	0.9101938429717762	1.0	1.0	3	P06753	1
Bladder neoplasm	0.3154979487441463	0.1124672575645499	0.9104529296767438	1.0	1.0	7	P78549	1
Abnormality of the metacarpal bones	0.2834747102339124	0.1108622624610493	0.9117255712736628	1.0	1.0	36	Q9NX62,Q9H173,Q15233,Q32P28,Q9UBM7,Q14739	6
Stereotypical hand wringing	0.3722389205848576	0.110735474250922	0.9118261145765992	1.0	1.0	4	P20700	1
Recurrent bronchitis	0.3331156107119516	0.1099135386596359	0.912477945303612	1.0	1.0	5	O60934,Q03519,Q05655,Q9H0U3	4
Impaired collagen induced platelet aggregation	0.4959216965742148	0.1082221328501742	0.9138194885882848	1.0	1.0	2	Q8N5K1	1
Diffuse mesangial sclerosis	0.2721601235297961	0.1076655687020915	0.9142609828981616	1.0	1.0	15	Q12769,P00813,Q9BW27,Q14C86,Q8NFH4	5
Aplasia hypoplasia of the eyebrow	0.2837576324411778	0.1074916448372129	0.914398953373174	1.0	1.0	43	Q96EK5,P61978,Q14696,P60953,P00813,Q9UM00,Q8WVM7,Q00577,P52788,Q9Y2V7,O75844	11
Aplasia hypoplasia of toe	0.2798860661106009	0.1069879552498894	0.914798535224927	1.0	1.0	32	Q9NX62,Q03164,P00813,Q9H3P2,Q9UBM7,P25054,Q96PZ0	7
Upper limb undergrowth	0.2725669632741321	0.1048772941732101	0.916473176215352	1.0	1.0	16	P98175,Q14739,P25054	3
Flat face	0.2719640052822237	0.1040230905614171	0.9171510243567508	1.0	1.0	26	Q9NX62,P56589,Q03164,O75381,P46100	5
Abnormal right ventricle morphology	0.311697755139425	0.1039298312274511	0.9172250333964952	1.0	1.0	7	Q15233	1
Abnormal peripheral nervous system morphology	0.3390707987084073	0.1032481430981803	0.9177660313812844	1.0	1.0	156	Q9NR77,Q15067,O95831,Q99720,P35637,P41440,Q6DKK2,Q969G3,Q9Y4W6,P00846,O75381,Q9GZY8,P46100,P56589,Q9Y619,P48651,Q9BQT8,P39210,P03915,Q92796	20
Solitary median maxillary central incisor	0.4785299782407259	0.099602026238917	0.9206602851213248	1.0	1.0	3	Q8N3U4	1
Generalized aminoaciduria	0.4778067885117419	0.0988426937962273	0.9212631697006172	1.0	1.0	3	P38117,Q16134	2
Abnormal cranial nerve physiology	0.2539992281872542	0.0987469868220068	0.921339161057486	1.0	1.0	70	P56589,P48651,Q9NR77,Q92796,O75381,P48735,Q969G3	7
Abnormal adipose tissue morphology	0.2687788788540181	0.0970824081642982	0.9226609511148632	1.0	1.0	57	P53680,P03915,P29084,Q9BTV4,P28070,P17252,P25054,O75844,P50402,P36543	10
Abnormal tracheal morphology	0.2767089099826018	0.0967773071827013	0.9229032455725684	1.0	1.0	31	Q13428,Q96HY6,Q14739	3
Glomerulonephritis	0.2705850012591317	0.095617700551275	0.9238242066072316	1.0	1.0	17	Q12769,O95394,Q9BW27,Q8NFH4,Q14C86,Q03252	6
Subcortical band heterotopia	0.3608407311447644	0.0951309569059171	0.9242108095177326	1.0	1.0	4	P07942	1
Subcortical heterotopia	0.3608407311447644	0.0951309569059171	0.9242108095177326	1.0	1.0	4	P07942	1
Skin ulcer	0.2725261543217577	0.0940526249500156	0.9250673533022872	1.0	1.0	28	O15460,P48735,Q14739	3
Aphasia	0.2797913466925742	0.0927693930053776	0.9260867669668768	1.0	1.0	36	P03915,Q13428,Q9Y296,P09651,P22626,Q96PZ0,P46100	7
Repetitive compulsive behavior	0.4805872756932917	0.0925896172329766	0.9262295925612504	1.0	1.0	2	P51608	1
Color vision defect	0.2695050869936585	0.09226453170317	0.92648786773392	1.0	1.0	17	Q6P4Q7,Q9H061	2
Otosclerosis	0.4799347471451731	0.0919804152750388	0.926713599965616	1.0	1.0	2	Q12830	1
Abnormality of the stapes	0.4799347471451731	0.0919804152750388	0.926713599965616	1.0	1.0	2	Q12830	1
Abnormality of the middle ear ossicles	0.4799347471451731	0.0919804152750388	0.926713599965616	1.0	1.0	2	Q12830	1
Subcapsular cataract	0.3217864425601098	0.0916960891724405	0.9269395046906506	1.0	1.0	5	Q8N2K0,Q9H6K4	2
Coarse hair	0.2691834010418494	0.0912731252261068	0.9272755717983936	1.0	1.0	17	Q9Y276,P51812,P36543,Q9UM00,P54802,P15586	6
Progressive visual field defects	0.4789559543229886	0.0910749611585684	0.9274330280424516	1.0	1.0	2	P35222	1
Deep palmar crease	0.2787717157294046	0.0894145112037542	0.9287524913912126	1.0	1.0	12	P61978	1
Abnormality of amino acid metabolism	0.476998368678618	0.0892939280748463	0.9288483194891644	1.0	1.0	2	P19447	1
Anophthalmia	0.2917381361705918	0.0888896265895886	0.9291696276992474	1.0	1.0	10	Q8NAT1	1
Dementia	0.2763747194869345	0.0879981768636137	0.9298781251745714	1.0	1.0	50	P00846,P03915,O15118,Q8WVX9,P09651,P27544,P35637,P22626,P36543	9
Skin dimple	0.267799094084808	0.0879332405537052	0.9299297367824562	1.0	1.0	22	Q03164,Q8TAA9,Q9H3P2,P61978	4
Chronic fatigue	0.3190725016329173	0.0876340971026639	0.9301675008537926	1.0	1.0	5	P04637,Q9NZJ7,Q13423,P07602	4
Pseudoepiphyses	0.4656331541581769	0.0868247264526761	0.9308108329726672	1.0	1.0	3	P51812	1
Pseudoepiphyses of the metacarpals	0.4656331541581769	0.0868247264526761	0.9308108329726672	1.0	1.0	3	P51812	1
Pseudoepiphyses of hand bones	0.4656331541581769	0.0868247264526761	0.9308108329726672	1.0	1.0	3	P51812	1
Neoplasm of the nervous system	0.2790660464278983	0.085149262743419	0.9321427264779664	1.0	1.0	45	P48735,P78549,P46100,Q969G3	4
Axonal degeneration regeneration	0.3503571628524353	0.0822942542125274	0.9344127233983726	1.0	1.0	4	P02545,P51149	2
Absent nipple	0.46818923327895	0.0817621482698951	0.934835856560056	1.0	1.0	2	P10586	1
Hypoplastic vertebral bodies	0.3085869492687347	0.0811690111893278	0.935307543663472	1.0	1.0	6	Q14739	1
Vomiting	0.2815532011181397	0.0804635329501782	0.9358685986512092	1.0	1.0	98	P50336,P61978,P03915,P00846,P35610,Q9Y619,P36551,Q8N183,P22695,P23786,O43676,P39210,P46100	13
Abnormal growth hormone level	0.2718680240760572	0.0802289284512917	0.9360551827369874	1.0	1.0	30	Q4J6C6,Q03164,Q96GW9,Q9NSE4,Q969G3	5
Eeg with focal spikes	0.4578981723237652	0.0799192892117111	0.9363014483271735	1.0	1.0	3	P36776,P08559	2
Abnormal circulating nitrogen compound concentration	0.2757022969321793	0.0791775240356348	0.9368914216786348	1.0	1.0	49	Q9Y619,P23786,O43772,P35610	4
Reduced forced expiratory volume in one second	0.4649265905383258	0.0791679415360656	0.9368990434816652	1.0	1.0	2	O95453	1
Abnormal protein glycosylation	0.265758495857857	0.0783081613634648	0.9375829255716436	1.0	1.0	18	Q9Y2V7,Q8N511	2
Lymphopenia	0.2685528092022192	0.0771186471503946	0.93852915889494	1.0	1.0	28	P00813,P28070,O95394,Q96MG7	4
Abnormality of the upper arm	0.2656686838753845	0.076507961808452	0.9390149799360492	1.0	1.0	19	O14979,P48651,Q9Y6X9,Q8WXH0,P36776,P02545,Q9BTV4,P50402	8
Cerebral palsy	0.2798535858854734	0.0762450864605345	0.9392241132501876	1.0	1.0	11	P48735,P98175	2
Lower limb muscle weakness	0.2776622816912725	0.0760051400271371	0.9394150088790204	1.0	1.0	44	Q9NR77,P00846	2
Abnormality on pulmonary function testing	0.2655487236777799	0.0758242155815486	0.9395589503324184	1.0	1.0	20	Q9BQT8	1
Premature skin wrinkling	0.2653118404779391	0.0753749232454993	0.9399164107907458	1.0	1.0	19	O75844	1
Metamorphopsia	0.450391644908616	0.0737401992876438	0.9412171114379072	1.0	1.0	3	O75533,P29992	2
Uveal melanoma	0.450391644908616	0.0737401992876438	0.9412171114379072	1.0	1.0	3	O75533,P29992	2
Abnormal ciliary body morphology	0.450391644908616	0.0737401992876438	0.9412171114379072	1.0	1.0	3	O75533,P29992	2
Choroidal melanoma	0.450391644908616	0.0737401992876438	0.9412171114379072	1.0	1.0	3	O75533,P29992	2
Inferior lens subluxation	0.450391644908616	0.0737401992876438	0.9412171114379072	1.0	1.0	3	O75533,P29992	2
Photopsia	0.450391644908616	0.0737401992876438	0.9412171114379072	1.0	1.0	3	O75533,P29992	2
Lens subluxation	0.450391644908616	0.0737401992876438	0.9412171114379072	1.0	1.0	3	O75533,P29992	2
Mydriasis	0.450391644908616	0.0737401992876438	0.9412171114379072	1.0	1.0	3	O75533,P29992	2
Abnormal urine magnesium concentration	0.4561174551386533	0.0726691870063453	0.9420693689060052	1.0	1.0	2	P29992	1
Abnormality of complement system	0.3403891542568599	0.0713941178108993	0.9430840909721788	1.0	1.0	4	Q03252	1
Limited elbow movement	0.272759946095535	0.0703740247214331	0.943895965247424	1.0	1.0	33	P48651,P37268,Q8WVM7,P23786,Q9BTV4,P50402	6
Dilated third ventricle	0.4518760195758472	0.0697940581334451	0.9443575765691096	1.0	1.0	2	Q93009	1
Delirium	0.4518760195758468	0.0697940581334448	0.94435757656911	1.0	1.0	2	Q9UJS0	1
Ectropion of lower eyelids	0.450244698205538	0.0687306997161679	0.9452039811376038	1.0	1.0	2	O60716	1
Abnormal erythrocyte enzyme level	0.2622848077221104	0.0678676688677616	0.9458909758964642	1.0	1.0	18	P61313,P00813,Q07020	3
Retinal atrophy	0.2614959635485421	0.0675530834923739	0.9461414039828222	1.0	1.0	25	Q10713,P04439,Q96PZ0	3
Progressive proximal muscle weakness	0.447960848287106	0.0672808411523639	0.9463581288696206	1.0	1.0	2	Q15149	1
Annular pancreas	0.440926892950385	0.0666538432165145	0.9468572803248084	1.0	1.0	3	Q96T58,Q9Y4R8	2
Mortality aging	0.2817720689973224	0.0661121577406761	0.947288531551966	1.0	1.0	100	Q9Y2V7,Q8TCJ2,O75718,Q15067,O75381,Q14739,O75844,P46100	8
Trigonocephaly	0.2542757421565185	0.0649478503694746	0.9482155219046078	1.0	1.0	14	O60762,Q02809,P20700,Q92785,Q9H2P0,Q03252	6
Germinoma	0.4430668841761784	0.0643232154784136	0.9487128684511444	1.0	1.0	2	P35222	1
Central primitive neuroectodermal tumor	0.4430668841761764	0.0643232154784122	0.9487128684511454	1.0	1.0	2	P04637	1
Psoriasiform dermatitis	0.333006856023508	0.0641126693008325	0.9488805139582746	1.0	1.0	4	P10321,P01889,Q15800	3
Clubbing of toes	0.4407830342577444	0.0630109093375809	0.9497578171903522	1.0	1.0	2	Q9NVI1	1
Pyridoxine responsive sideroblastic anemia	0.4407830342577444	0.0630109093375809	0.9497578171903522	1.0	1.0	2	Q9NVI1	1
Duodenal stenosis	0.4407830342577444	0.0630109093375809	0.9497578171903522	1.0	1.0	2	Q9NVI1	1
Aplasia involving bones of the extremities	0.4407830342577403	0.0630109093375787	0.949757817190354	1.0	1.0	2	P02545	1
Aplasia of the phalanges of the hand	0.4407830342577403	0.0630109093375787	0.949757817190354	1.0	1.0	2	P02545	1
Prolonged partial thromboplastin time	0.2971130269783112	0.0628105800886904	0.94991734081405	1.0	1.0	6	P28288	1
Hypoplastic labia majora	0.2845472132529188	0.0612864502935104	0.95113108161662	1.0	1.0	9	P16435,O60885,Q9UQE7,Q9Y619	4
Abnormal labia majora morphology	0.2845472132529188	0.0612864502935104	0.95113108161662	1.0	1.0	9	P16435,O60885,Q9UQE7,Q9Y619	4
Carcinoma	0.2953283240771011	0.0601602812569415	0.9520279793534984	1.0	1.0	6	P51532,P43246,Q07864,P28340,P25054	5
Abnormality of the ureter	0.261225934923368	0.0579978168487607	0.9537503675036834	1.0	1.0	58	P61978,O14936,Q86XL3,P23786,O75844,P46100	6
Neonatal hypotonia	0.2710788994879187	0.0574594101285157	0.9541792386857972	1.0	1.0	50	P56589,P10412,Q16836,Q9Y584,O14936,Q15067,Q9UM00,Q15233,Q00577,Q8WXI9,P23786	11
Non midline cleft lip	0.3251714005876617	0.0570920883412464	0.9544718387343324	1.0	1.0	4	O60934,O60716,Q9NXE4	3
Chest pain	0.2582050129009874	0.0561373564127922	0.9552323847325048	1.0	1.0	18	P50336,Q9BTV4	2
Premature birth	0.273751714532232	0.055550136007328	0.9557001888229816	1.0	1.0	41	O75844,O43676,O75381,Q9UBM7	4
Peritonitis	0.2641134047580288	0.0555215670848132	0.955722948400203	1.0	1.0	12	O43707,Q12769,Q9BW27,Q8NFH4,Q14C86	5
Minimal change glomerulonephritis	0.2641134047580288	0.0555215670848132	0.955722948400203	1.0	1.0	12	O43707,Q12769,Q9BW27,Q8NFH4,Q14C86	5
Aplasia hypoplasia of the gallbladder	0.421207177814026	0.0534065220450089	0.9574080087905454	1.0	1.0	2	P18583	1
Aplasia hypoplasia of the phalanges of the toes	0.4179445350734042	0.0520707056568338	0.958472354788585	1.0	1.0	2	P02545	1
Intractable diarrhea	0.3174523887096451	0.0508589121512847	0.9594379464655596	1.0	1.0	4	Q15477	1
Neoplasm of the larynx	0.4148172323759808	0.0508567362593655	0.9594396803323382	1.0	1.0	3	P52701,P04637	2
Abnormality of mouth shape	0.2525320321494078	0.0499477190153134	0.960164050458032	1.0	1.0	62	P61978,Q10713,Q15233,Q00577,Q96PZ0,Q86XL3,Q8IY37,Q9H3P2,P46100	9
Combined immunodeficiency	0.2779398529174484	0.0488237315496744	0.9610597696828777	1.0	1.0	9	P00813	1
Muscular dystrophy	0.2613367471099435	0.0481491958332367	0.9615973390391332	1.0	1.0	28	O14979,Q9H173,Q8WXH0,O60762,Q9BTV4,Q14331,P09651,P22626,Q8NAT1,P50402	10
Coarse facial features	0.2454448356664681	0.047221696908635	0.9623365351771112	1.0	1.0	65	P38159,O95831,P54802,P46100,Q969G3	5
Equinus calcaneus	0.4042414355627985	0.0471897840434092	0.9623619696049616	1.0	1.0	2	P40939	1
Eeg with focal sharp waves	0.4050261096605805	0.0462129543972793	0.9631405173908034	1.0	1.0	3	P36776,P08559	2
Chills	0.4043733681462186	0.0459259088322885	0.9633693036985288	1.0	1.0	3	P11171,P40939	2
Rieger anomaly	0.3999999999999972	0.0458996333964777	0.9633902463780516	1.0	1.0	2	O96028	1
Malrotation of small bowel	0.3999999999999972	0.0458996333964777	0.9633902463780516	1.0	1.0	2	O96028	1
Ectopia pupillae	0.3999999999999972	0.0458996333964777	0.9633902463780516	1.0	1.0	2	O96028	1
Craniofacial asymmetry	0.3999999999999972	0.0458996333964777	0.9633902463780516	1.0	1.0	2	O96028	1
Preaxial foot polydactyly	0.3999999999999972	0.0458996333964777	0.9633902463780516	1.0	1.0	2	O96028	1
Myoclonus	0.2687036015917761	0.0453345987985236	0.9638406099246928	1.0	1.0	90	O14936,Q96AA3,Q00577,Q969G3,Q9Y4W6,P00846,O95394,Q9HA77,O14773,Q96F07,P27544,P52788,Q8NI60,P03915,Q10713,P49959,P00403,Q96EY7,Q01105	19
Duplication of hand bones	0.267664981165306	0.0431278185193168	0.9655996439531872	1.0	1.0	51	P61313,O00459,Q10713,Q15067,P34897,Q9UBM7,Q14739,Q9H3P2,P98172,P98175	10
Delayed ossification of carpal bones	0.3892332789559506	0.0430417783766433	0.9656682303665882	1.0	1.0	2	P36776	1
Buphthalmos	0.3859706362153292	0.04228496423097	0.9662715313713568	1.0	1.0	2	Q14118	1
Joint laxity	0.246745025095244	0.0420790571228489	0.966435675376096	1.0	1.0	70	P61978,P36543,Q9Y619,P49959,Q8WVM7,Q15233,Q32P28,Q8WXI9,Q96HY6,P55795,O14497,P98172,Q969G3	13
Abnormal electroretinogram	0.2625054916636055	0.0417320609745977	0.9667122952546476	1.0	1.0	30	Q15067,P00846	2
Decreased circulating androgen concentration	0.25715206406358	0.0413898934771054	0.9669850697313156	1.0	1.0	12	Q969G3	1
Short thorax	0.3893611136030799	0.0400452569299668	0.9680570453976116	1.0	1.0	3	P11166	1
Limitation of neck motion	0.3838120104438667	0.0381984479756295	0.969529458330458	1.0	1.0	3	P02545,Q8TD19	2
Verrucae	0.3803706811507744	0.0371347647064989	0.9703775529081422	1.0	1.0	3	Q8IWT6	1
Abnormality of t cell physiology	0.2469903313651867	0.0362571394644494	0.9710773252036508	1.0	1.0	16	Q9Y2V7,P00813,O95394	3
Abnormal glomerular mesangium morphology	0.2469398555391766	0.0361425624409924	0.9711686845620392	1.0	1.0	16	Q12769,P00813,Q9BW27,Q14C86,Q8NFH4	5
Abnormality of body mass index	0.3769582245430796	0.0361390013204662	0.9711715240701002	1.0	1.0	3	P42858,Q9UJS0	2
Rigidity	0.2653980734980598	0.035622363541975	0.9715834761087984	1.0	1.0	52	P00846,Q9H173,O14936,Q9Y4I1,Q15392,Q96F07	6
Atrial flutter	0.3373572593800972	0.0354925016773858	0.9716870254045302	1.0	1.0	2	P02545	1
Aplasia hypoplasia of the epiglottis	0.3249592169657396	0.0347009174986122	0.9723182293112752	1.0	1.0	2	P38919	1
Sunken cheeks	0.3230016313213695	0.0345985517956821	0.9723998563095976	1.0	1.0	2	Q07954	1
Weakness of the intrinsic hand muscles	0.2897226753670499	0.0335237329235983	0.9732569403299252	1.0	1.0	2	Q13586	1
Hyperorality	0.289722675367051	0.0335237329235983	0.9732569403299252	1.0	1.0	2	Q14203	1
Neoplasm of the oral cavity	0.2584058668713545	0.0327595672641431	0.9738663215420612	1.0	1.0	11	Q969G3	1
Constipation	0.2606128390540445	0.0323079052603398	0.974226505011074	1.0	1.0	84	P50336,P61978,Q8TAA9,P03915,P36551,Q13423,Q03164,P37268,P78318,Q8WXI9,P00403,Q9UBM7,P25054,P42892,P46100,Q8WVX9	16
Abnormal brain choline level by mrs	0.3580287206266372	0.0315821239201724	0.9748052993237036	1.0	1.0	3	P09543,P07602	2
Abnormal brain n acetyl aspartate level by mrs	0.3580287206266372	0.0315821239201724	0.9748052993237036	1.0	1.0	3	P09543,P07602	2
Reduced brain n acetyl aspartate level by mrs	0.3580287206266372	0.0315821239201724	0.9748052993237036	1.0	1.0	3	P09543,P07602	2
Abducens palsy	0.3580287206266321	0.0315821239201713	0.9748052993237046	1.0	1.0	3	O00170,P07602	2
Prominent nasal bridge	0.2680090208846387	0.0313335870562123	0.9750035049536552	1.0	1.0	47	O14936,P49454,Q10713,Q8WVM7,P52788,P42892	6
Lipodystrophy	0.2621653849114846	0.0307210473033954	0.9754920057625724	1.0	1.0	32	O75844,P28070,P50402,P36543	4
Brain imaging abnormality	0.2637622551239655	0.0286184013871172	0.9771689359102188	1.0	1.0	34	P03915,P35610,P60953,Q00577,P00403,Q969G3	6
Pelvic girdle muscle weakness	0.267734553775737	0.0281113800635848	0.977573317683088	1.0	1.0	8	Q9Y223,P55072,O14979,Q15149,Q9Y5L0,A6NHR9,P06753	7
Periorbital fullness	0.2494836483332828	0.0273537322828785	0.9781776007152768	1.0	1.0	20	P38159	1
Abnormality of the extraocular muscles	0.3273498694517018	0.0269785321259031	0.9784768566803452	1.0	1.0	3	Q13509,P43243	2
Neoplasm of the skin	0.2676971299469357	0.0265594233890527	0.978811137277782	1.0	1.0	42	Q969G3,Q06136,P29084,P20585,Q15126,P25054,P78549	7
Peripheral hypomyelination	0.3221279373368193	0.0264560375775848	0.9788935982444298	1.0	1.0	3	Q8TB36,O60231	2
Mastoiditis	0.3198433420365635	0.026246673133603	0.9790605889128396	1.0	1.0	3	O60934,Q15043	2
Abnormality of the mastoid	0.3198433420365635	0.026246673133603	0.9790605889128396	1.0	1.0	3	O60934,Q15043	2
Increased urinary non proteinogenic amino acid level	0.2699967352269082	0.0253300870995104	0.9797916755909408	1.0	1.0	4	P51649,P32929,O00469	3
Increased serum iron	0.3054830287206369	0.0251659221316161	0.979922618541889	1.0	1.0	3	Q9Y276,Q02241	2
Dry hair	0.3043588589600906	0.0250966335336773	0.9799778853889084	1.0	1.0	3	Q9Y276	1
Abnormal phalangeal joint morphology of the hand	0.2618013883312979	0.024933138509281	0.980108294736646	1.0	1.0	33	O75844,P98172	2
Conjugated hyperbilirubinemia	0.2677113940581205	0.0245648359546916	0.9804020676734402	1.0	1.0	4	P11166,Q9H267,Q86SX6	3
Hypoplastic toenails	0.2486112361605866	0.0234216017800262	0.9813139740027288	1.0	1.0	22	Q969G3,P23786,Q92785,O14497,Q96GM5	5
Abnormality of the cerebrospinal fluid	0.3174111960518113	0.0227099882631193	0.9818816084095456	1.0	1.0	143	P00846,P03915,O00459,Q9NR77,Q8N183,P49454,Q10713,P07237,Q15392,O95831,P23786,Q8NI60,Q9Y2V7,P07942,P39210,O43676,Q16625,Q969G3	18
Epiphora	0.2533463924257333	0.0205093920414505	0.9836370198875128	1.0	1.0	4	O60832,Q07954,Q15043	3
Abnormality of the bladder	0.2835079243852196	0.0182736112612448	0.9854205791142552	1.0	1.0	108	P50336,P61978,Q9NR77,Q99720,Q86XL3,P35637,Q9NWM8,P46100,Q969G3	9
Multifocal seizures	0.2593923554394014	0.017941210032676	0.9856857534452808	1.0	1.0	6	Q6PJG6,Q9HA77,Q96S52,Q9UGM6,Q14683	5
Dysmetria	0.2588897834715276	0.0173769318344629	0.9861359121068234	1.0	1.0	55	Q5JRX3,Q9Y4W6,Q10713,O14773,Q8N183,Q96GW9,P41440,Q6DKK2	8
Posterior subcapsular cataract	0.2347371857655961	0.0168895510462638	0.9865247286367732	1.0	1.0	4	P36405,Q9H6K4,O43837	3
Bone pain	0.2454664774919179	0.0167358932023452	0.986647312531488	1.0	1.0	20	P48735,Q6UN15	2
Sepsis	0.2473155078654901	0.0166152554059562	0.9867435541844992	1.0	1.0	25	P42892,O95394,P00813,P25054	4
Nephritis	0.2452511342177185	0.0161836394960309	0.9870878875466096	1.0	1.0	20	O43707,Q12769,O95394,Q8N1F7,Q9BW27,Q14C86,Q8NFH4,Q03252	8
Dilated fourth ventricle	0.2647534539622752	0.0158929946057441	0.987319758792668	1.0	1.0	40	P36543,P60953,O14936,Q10713,Q8WVX9,Q96GM5,P49959,P23786,Q9UBM7,O14497,Q8NAT1,Q969G3	12
Speech articulation difficulties	0.2236546261412951	0.0154195295396285	0.987697482959038	1.0	1.0	4	Q8N3U4	1
Poor wound healing	0.2364467668190721	0.0135479961603819	0.9891905937093376	1.0	1.0	5	P04062,Q02809,O00170,O15270	4
Esophageal stenosis	0.2535119242077756	0.0129131359329356	0.9896970945416914	1.0	1.0	6	O95394,P06748,O60832,O95453,P01889	5
Renal agenesis	0.2625037996158618	0.0116021892243537	0.9907430000288612	1.0	1.0	50	Q15392,Q86XL3,Q9UBM7,Q9Y2V7,P46100	5
Retinal detachment	0.2309691874451654	0.0103763239792592	0.991721039862644	1.0	1.0	15	Q8NAT1,Q02809,P04439,Q14331	4
Abnormal blood glucose concentration	0.2711863876525391	0.0100480050136257	0.9919829868358064	1.0	1.0	97	P35610,Q4J6C6,Q8N183,P22695,O43772,P23786,O75844,P53985,O43676	9
Nasogastric tube feeding	0.2450904123726559	0.0094351178420742	0.992471976837207	1.0	1.0	25	Q96EY7,Q9GZY8,Q96N66,Q15233	4
Abnormality of the testis size	0.2520211192973536	0.0087001458895859	0.9930583754896074	1.0	1.0	29	P46100	1
Ectopic calcification	0.2532215345111321	0.0082263652999578	0.993436384165746	1.0	1.0	58	P03915,Q9Y4I1,O75381,P23786,Q14739,Q9UBM7,O75844,Q16625	8
Finger syndactyly	0.2516998602911361	0.0076056115283716	0.993931658490304	1.0	1.0	29	Q9Y619,P48651,Q9UBM7,P25054,P98172,P98175	6
Pace of progression	0.3257520005312996	0.0058883028370528	0.9953018412261794	1.0	1.0	155	Q5U5X0,Q9Y4W6,Q9NR77,Q8N183,Q13126,Q10713,O14773,Q9NR28,O95831,Q99720,P27544,P54802,P28288,P41440,P55263,P07942,P39210,P50402	18
Microvesicular hepatic steatosis	0.2454900090033006	0.0054790057361672	0.9956284077867444	1.0	1.0	10	Q9HA77,P39210	2
Simplified gyral pattern	0.2492590261176067	0.0049480884497259	0.9960520127306264	1.0	1.0	28	O14936,Q96GM5,P20700,Q86XL3,Q9UPT5,O14497,Q03252,Q969G3	8
Gonosomal inheritance	0.240494793787518	0.0046793577186544	0.9962664263471136	1.0	1.0	69	Q92796,O14936,P38159,O95831,Q15233,P52788,P98172,P46100	8
Abnormal mitral valve physiology	0.2548339653839084	0.0034836823717913	0.9972204292429728	1.0	1.0	32	O75844	1
Hip contracture	0.2389590375420086	0.0027636857728488	0.9977949005980102	1.0	1.0	11	Q8TD16	1
Abnormal bone structure	0.3312910053495001	0.0024951258802449	0.998009179648586	1.0	1.0	162	O75718,P07237,Q13126,O95831,Q9UBM7,Q13428,O75381,Q32P28,Q96HY6,P54802,Q14739,Q8IY37,O75844,Q9H3P2,P56589,Q9Y619,P48651,Q15392,Q86XL3,P52788,Q9NSE4,P48735,P61978,P29084,Q9NWM8	25
Abnormality of the diaphragm	0.24100014054027	0.0019473269752218	0.9984462588536214	1.0	1.0	22	Q9H3P2,P98172	2
Abnormality of the synovia	0.2475985175911814	0.0006661365664783	0.9994684999575284	1.0	1.0	76	O75718,Q9H173,Q8TD16,Q9NSE4,Q9UBM7,O75844,P36543	7
Abnormal systemic blood pressure	0.2646257094609481	0.0003610870566315	0.9997118942186688	1.0	1.0	92	P50336,P03915,O43772,O75844,P42892,P46100	6