Term	es	nes	pval	sidak	fdr	geneset_size	leading_edge	leading_edge_size
Episodic vomiting	0.7857405265840407	2.635851206179772	0.0083926524376685	1.0	0.9462711105543736	12	P00403,P61978,P00846,P22695,P03915	5
Abnormal metabolic brain imaging by mrs	0.720709928945623	2.6351670490214514	0.0084095884495831	1.0	0.9462711105543736	16	P00403,P03915	2
Peripheral demyelination	0.714188951787317	2.5990167608093744	0.0093491208293898	1.0	0.9462711105543736	16	P07602,Q9NR77,P00846,P17480,P03915	5
Abnormality of skeletal muscle fiber size	0.6689016435601536	2.5446486316377355	0.0109387747392317	1.0	0.9462711105543736	18	P22626,Q9BPX6,O95831,P02545,P09651,Q9BUK6	6
Decreased activity of mitochondrial complex iv	0.7174039037635425	2.524159395885758	0.0115975329709223	1.0	0.9462711105543736	15	Q9Y2R0,Q70HW3	2
Postural tremor	0.6649843163353366	2.521212465615094	0.0116951212853499	1.0	0.9462711105543736	18	Q9H6K4,Q9NR77,P35637,P00846,Q14108,P20700,P03915	7
Abnormal muscle fiber morphology	0.5351298020274934	2.5173476254011464	0.0118242102247569	1.0	0.9462711105543736	67	Q5JTV8,P06753,P00403,Q70HW3,P07196,P61978,O43676,O95831,P00846,Q86U42,Q8NI60,P22626,Q9Y276,P50402,P23786,P02545,P03915,Q9BUK6,O14979,Q9BTV4,Q9BPX6,P35637,Q9H173,Q9Y4W6,P09651	25
Ragged red muscle fibers	0.6985802062218207	2.5118656225242373	0.0120094809023758	1.0	0.9462711105543736	16	P00403,P00846,O95831,Q70HW3	4
Amyotrophic lateral sclerosis	0.7135839824144684	2.5033819004720392	0.0123012727201201	1.0	0.9462711105543736	15	P22626,P50995,Q96CV9,P35637,Q92804,Q15165	6
Fatigable weakness of swallowing muscles	0.746789383224893	2.441869215302265	0.014611438849251	1.0	0.9462711105543736	12	P50995,P35637,Q96CV9,Q92804,Q15165	5
Demyelinating peripheral neuropathy	0.6683404795921146	2.436185797308642	0.0148430583193241	1.0	0.9462711105543736	17	P00846,O15121,P03915,Q9NR77	4
Abnormal circulating fatty acid concentration	0.6516225530002391	2.4320323884650317	0.0150143646452181	1.0	0.9462711105543736	19	O75431,P23786,O75381,P56589,O43772	5
Abnormality of the mitochondrion	0.4308281583310406	2.424019006815779	0.0153498020883295	1.0	0.9462711105543736	92	Q4J6C6,Q86Y39,Q70HW3,P00403,P23786,O96000,P35637,Q16836,O43676,Q9Y584,P03915,P00846,Q8N183,Q9Y6M9,Q9Y2R0,Q9UBX3,O43772,Q96CU9	18
Fatigable weakness of bulbar muscles	0.7104573264498846	2.402544683264221	0.0162814453244988	1.0	0.9462711105543736	14	P50995,P35637,Q96CV9,Q92804,Q15165,P09651	6
Bulbar signs	0.7248269228320171	2.401296211003717	0.016337106002165	1.0	0.9462711105543736	13	P07602,P06753,Q92734,P35637,P00846,P03915	6
Fatigable weakness of respiratory muscles	0.7209247219674378	2.3809793839096445	0.0172666782576467	1.0	0.9462711105543736	13	P50995,P35637,Q96CV9,Q92804,Q15165	5
Central scotoma	0.746367888715666	2.3224302367235636	0.0202097808151804	1.0	0.9462711105543736	11	P00846,P03915,Q9H061	3
Slow decrease in visual acuity	0.78810741681946	2.310513855348445	0.020859722360162	1.0	0.9462711105543736	9	P00846,P03915	2
Lacticaciduria	0.8990118448106402	2.3105055700791444	0.0208601805188091	1.0	0.9462711105543736	5	P00846,P03915,Q9BQT8	3
Abnormal brain lactate level by mrs	0.7588144345022193	2.274558081751784	0.0229324531362922	1.0	0.9462711105543736	10	P00403	1
Abnormal csf protein level	0.732204768613606	2.2524051907350735	0.0242966780065461	1.0	0.9462711105543736	11	P07602,Q9NR77,P00403,P20700,P03915	5
Progressive spasticity	0.6519308466242923	2.246128256597287	0.0246957939100622	1.0	0.9462711105543736	16	P10809,O15121	2
Symptomatic seizures	0.8354791940526085	2.2363778621236925	0.0253270300148755	1.0	0.9462711105543736	7	Q13423,P53985	2
Segmental peripheral demyelination remyelination	0.8761541992064362	2.2192737244467406	0.0264681080691948	1.0	0.9462711105543736	5	P00846,Q9NR77	2
Nasogastric tube feeding in infancy	0.8294980778752397	2.2109277719571523	0.0270408391518237	1.0	0.9462711105543736	7	Q92734,P61978,P07602	3
Mitochondrial respiratory chain defects	0.8712458074631435	2.1995609591419165	0.0278380596657448	1.0	0.9462711105543736	5	P00846,P03915	2
Abnormal pupillary function	0.8260958101492548	2.1964176641285	0.0280620624795848	1.0	0.9462711105543736	7	Q9NR77	1
Hemianopia	0.7810751977527872	2.183963949424102	0.0289648972210454	1.0	0.9462711105543736	8	P00403,P03915	2
Chronic fatigue	0.8648841836651902	2.173947984476314	0.0297090418084897	1.0	0.9462711105543736	5	Q13423	1
Hypoketotic hypoglycemia	0.8166615243247999	2.1560562196492916	0.0310792755195308	1.0	0.9462711105543736	7	O43772,P23786	2
Xerostomia	0.6631322916197021	2.145746440996137	0.031893213806831	1.0	0.9462711105543736	14	P50995,P35637,Q96CV9,Q92804,Q15165	5
Hemiparesis	0.6480397052570297	2.139042908937857	0.0324321934145357	1.0	0.9462711105543736	15	P00403,P03915	2
Anterior rib cupping	0.8551947460067093	2.1347987174903627	0.0327774551048078	1.0	0.9462711105543736	5	P00813	1
Scotoma	0.6586349518879359	2.120962358426254	0.0339249702239095	1.0	0.9462711105543736	14	P00846,P03915,Q9H061	3
Hypoglycemic seizures	0.8465895875675757	2.10973088808652	0.0348815423678332	1.0	0.9462711105543736	6	Q13423,P53985	2
Abnormal larynx physiology	0.6680913556224858	2.101229668283199	0.035620810231264	1.0	0.9462711105543736	13	P50995,P35637,Q96CV9,Q92804,Q15165	5
Toe walking	0.6009070013909376	2.10007870072486	0.0357219186159316	1.0	0.9462711105543736	21	P07602,P50402,P06753,P35637,Q8TD16,O95831,P02545	7
Hypothermia	0.7211530967867628	2.0925855604256607	0.0363861666614633	1.0	0.9462711105543736	10	P00846,O43772	2
Centrocecal scotoma	0.9195417847050974	2.0775751823227417	0.0377485039666933	1.0	0.9462711105543736	4	P00846	1
Bilateral sensorineural hearing impairment	0.6016035172761727	2.075836008516164	0.0379091207749986	1.0	0.9462711105543736	26	Q9NSE4,P07602,P00403,P35637,Q15067,P38159,P03915	7
Distal peripheral sensory neuropathy	0.8379570279391608	2.064742754109243	0.0389473469416925	1.0	0.9462711105543736	5	P00403	1
Basal ganglia calcification	0.7919946857909465	2.049658103219721	0.0403978061737055	1.0	0.9462711105543736	7	P00403	1
Positive romberg sign	0.7896104565909899	2.039307755747812	0.0414193220817242	1.0	0.9462711105543736	7	Q8IV08,P41440	2
Temperature instability	0.7492770263522904	2.0387498331484672	0.0414750014526494	1.0	0.9462711105543736	8	P20700,P07602,Q2TAA5	3
Abnormal circulating acetylcarnitine concentration	0.7886783236312428	2.035258055644483	0.0418249142284994	1.0	0.9462711105543736	7	O43772,P23786	2
Myoclonic spasms	0.8273991121081616	2.031114714902625	0.0422433590923863	1.0	0.9462711105543736	6	P00846,Q10713	2
Vitiligo	0.7875528670260812	2.0303660933480177	0.042319340525865	1.0	0.9462711105543736	7	P00403	1
Fluctuations in consciousness	0.7868926265656127	2.0274950619844603	0.0426118089407578	1.0	0.9462711105543736	7	P00403	1
Mitochondrial inheritance	0.9020909666981576	2.0109132666103458	0.0443346188071429	1.0	0.9462711105543736	4	P00846,P00403	2
Neoplasm of the adrenal cortex	0.8245348345486045	2.009835603454338	0.0444485912102894	1.0	0.9462711105543736	5	P48735	1
Decreased plasma carnitine	0.6812298299454687	1.9957521039141304	0.0459609125615008	1.0	0.9462711105543736	11	O43772,P23786	2
Stuttering	0.8960440029632628	1.9877130226382524	0.0468434378301847	1.0	0.9462711105543736	4	P00403	1
Abnormality of the distal phalanges of the toes	0.8909921671018319	1.9682915191952048	0.0490345051926492	1.0	0.9462711105543736	4	O75431,Q7LGA3,O75844	3
Loss of subcutaneous adipose tissue in limbs	0.8909921671018267	1.9682915191951815	0.0490345051926519	1.0	0.9462711105543736	4	O75431,Q03252,O75844	3
Basal ganglia cysts	0.7729723212533341	1.966757731034684	0.0492111477480716	1.0	0.9462711105543736	7	P00846	1
Abnormal circulating fatty acid anion concentration	0.6417461714766559	1.9585191329137464	0.050169128209951	1.0	0.9462711105543736	13	O43772,P23786	2
Psychotic mentation	0.886158189729392	1.949674421836908	0.0512149368334207	1.0	0.9462711105543736	4	P00403	1
Neck muscle weakness	0.6397182191967644	1.9474474004760312	0.0514811200010925	1.0	0.9462711105543736	13	Q9BTV4,P07602,P06753,P35637,P02545,Q86U42,Q9Y5P6	7
Widely patent fontanelles and sutures	0.884641299858063	1.943825790417967	0.0519164625814649	1.0	0.9462711105543736	4	P98175,O75844	2
Thoracic scoliosis	0.6388385879118412	1.9426412167895304	0.0520595232458116	1.0	0.9462711105543736	13	Q9NSE4,O75844,P06753,P02545,O75477	5
Agenesis of corpus callosum	0.3914151438785636	1.9413592610942851	0.0522147160824328	1.0	0.9462711105543736	80	P00403,P98172,P61978,Q8NAT1,Q8N3U4,Q10713,Q15392,P23786,Q14004,Q7LGA3,Q969G3,Q86XL3,P03915,P48651,Q9BX10,O96028,P46100,O14974,P49454	19
Sensorimotor neuropathy	0.5818878928431189	1.9401594391006245	0.0523603161896233	1.0	0.9462711105543736	32	P07602,Q9NR77,P00403,O95831,P00846,Q9Y2R0,P03915	7
Abnormality of facial adipose tissue	0.8830405550855946	1.9376504233487128	0.0526658862337905	1.0	0.9462711105543736	4	Q03252,O75844	2
Impaired visuospatial constructive cognition	0.7085871571643738	1.9363378917550655	0.0528263308362899	1.0	0.9462711105543736	9	P00403,Q10713	2
Underdeveloped supraorbital ridges	0.6485769513947114	1.9328065741129612	0.0532600301897769	1.0	0.9462711105543736	12	P98175,P40855,O75381,P56589,Q08J23	5
Mixed demyelinating and axonal polyneuropathy	0.8047665687234934	1.9284089988224573	0.0538042734029555	1.0	0.9462711105543736	5	P00403,P07196,P03915,P35670	4
Motor neuron atrophy	0.5739084307646881	1.9268915084063123	0.0539931519811456	1.0	0.9462711105543736	21	P22626,P50995,Q92734,Q96CV9,P35637,Q92804,Q15165	7
Cupped ribs	0.8008756841048357	1.921380204078076	0.0546837923686915	1.0	0.9462711105543736	6	P00813	1
Muscle stiffness	0.5734968830160172	1.915487363600944	0.0554303791407038	1.0	0.9462711105543736	22	P00846,Q15392,P07602,P23786	4
Sensory axonal neuropathy	0.6445726644547274	1.911455186067491	0.0559461105628973	1.0	0.9462711105543736	12	P22626,Q8IV08,O95831,Q15067,P09651	5
Abnormal visual field test	0.7995500136824085	1.906812840949858	0.0565448279101405	1.0	0.9462711105543736	5	P00846	1
Upper airway obstruction	0.7992724670580217	1.905662563917888	0.0566939992822141	1.0	0.9462711105543736	5	P02545,Q96HY6,O75844	3
Thin ribs	0.6318978947711548	1.9046384923405384	0.0568270793815726	1.0	0.9462711105543736	13	O75431,Q32P28,O95831,O75844	4
Ankylosis	0.7988416006750421	1.903876611357317	0.0569262558380747	1.0	0.9462711105543736	5	P02545,P48651,O75844	3
Focal segmental glomerulosclerosis	0.5662856886892204	1.8874234240837424	0.0591033969916772	1.0	0.9462711105543736	20	Q8NFH4,O75431,P00403,Q14108,Q14C86,Q8N1F7,P03915,Q12769	8
Rimmed vacuoles	0.6022356827921309	1.875755067020568	0.0606889205406149	1.0	0.9462711105543736	15	P22626,Q9BTV4,P50402,Q9H173,P02545,Q86U42,P09651,O14979	8
Retinal telangiectasia	0.7896750076722598	1.8746735248563056	0.0608376512979531	1.0	0.9462711105543736	6	P00846	1
Abnormal middle phalanx morphology of the hand	0.7516109105420596	1.87280157784249	0.0610957900296991	1.0	0.9462711105543736	7	Q15233,P02545,Q03164	3
Muscle fiber atrophy	0.5572578337600236	1.8401404852939964	0.0657476148286007	1.0	0.9462711105543736	19	P22626,P50402,P23786,P06753,P61978,P35637,P02545	7
Increased muscle lipid content	0.7016711202658205	1.8169669937273347	0.0692221674051125	1.0	0.9462711105543736	8	Q8NI60,Q9BUK6,P23786,P06753	4
Metaphyseal striations	0.777814171479636	1.8163537436075792	0.0693161259914465	1.0	0.9462711105543736	5	P00813	1
Abnormal cardiac ventricular function	0.5788215350996847	1.81393136307767	0.0696882934794906	1.0	0.9462711105543736	16	Q15233,O75844,P00403,P46100,P03915	5
Type 1 muscle fiber atrophy	0.737637474909423	1.8108608361487024	0.0701623962899655	1.0	0.9462711105543736	7	P02545,P50402,P61978,P06753	4
Young adult onset	0.6622216672637853	1.8004933478520428	0.071782773025262	1.0	0.9462711105543736	10	P31483,P07602,Q9H0U3,P02545,O15118,P36551	6
Multiple lipomas	0.6975852568945969	1.797695454654953	0.0722252821247046	1.0	0.9462711105543736	8	P53680,P03915,Q9BUK6	3
Blurred vision	0.7724217256422512	1.7937964354636724	0.0728456661103544	1.0	0.9462711105543736	5	P00846	1
Hemifacial spasm	0.845491675195727	1.791818041506985	0.0731621178576706	1.0	0.9462711105543736	4	Q10713	1
Slow pupillary light response	0.9546041271693304	1.7836769254819749	0.0744761776905065	1.0	0.9462711105543736	3	Q9NR77	1
Abnormal pupillary light reflex	0.9546041271693304	1.7836769254819749	0.0744761776905065	1.0	0.9462711105543736	3	Q9NR77	1
Intestinal pseudo obstruction	0.7314748825710735	1.7834263424401908	0.0745169283004403	1.0	0.9462711105543736	7	P00403,P03915	2
Neoplasm of the pituitary gland	0.5973216328818268	1.7767179973219671	0.0756146496601652	1.0	0.9462711105543736	14	O75874,P48735	2
Ventricular preexcitation	0.7288771888669278	1.7718408798151295	0.0764209744792974	1.0	0.9462711105543736	7	P00403,P00846	2
Hip pain	0.7664697982784741	1.76884719953585	0.0769193775890888	1.0	0.9462711105543736	5	P02545,P22626,O75844	3
Psychosis	0.5507564863183144	1.7665630033541535	0.0773014415025896	1.0	0.9462711105543736	22	Q5JRX3,P00403,P03915,Q6DKK2	4
Muscle abnormality related to mitochondrial dysfunction	0.5545481808917535	1.7580751187761394	0.0787347286846766	1.0	0.9462711105543736	35	Q86Y39,P00403,O96000,O43676,P03915,P00846,Q9Y6M9,Q9Y2R0,Q9UBX3,Q9BUK6,Q96CU9	11
Increased connective tissue	0.7246374379179471	1.7529054340182468	0.0796182407082	1.0	0.9462711105543736	7	P02545,O75431,O95831	3
Abnormal circulating citrulline concentration	0.761953313425898	1.7498795819243704	0.0801390946145093	1.0	0.9462711105543736	5	P00846	1
Skin pit	0.6698211126483496	1.7483883836385368	0.0803967980084565	1.0	0.9462711105543736	9	O96028,P61978,P16615,Q8N3U4,Q07954	5
Decreased circulating iga level	0.6861310264745711	1.7434786314189776	0.0812500437128465	1.0	0.9462711105543736	8	P00813	1
Abnormal astrocyte morphology	0.5912227079102825	1.7418587852912095	0.0815331573034576	1.0	0.9462711105543736	14	P00846,P48735,O95831	3
Achilles tendon contracture	0.6317906855544508	1.740155767538232	0.0818316701084409	1.0	0.9462711105543736	11	Q8WXH0,Q9BTV4,P50402,Q8N2K0,Q8TD16,P02545,Q08J23	7
Osteolysis involving bones of the feet	0.7587476061354049	1.7363985004518314	0.082493397233117	1.0	0.9462711105543736	5	O75431,O75844	2
Foot acroosteolysis	0.7587476061354049	1.7363985004518314	0.082493397233117	1.0	0.9462711105543736	5	O75431,O75844	2
Aplasia hypoplasia of the femur	0.6117972628565781	1.7350525189661787	0.0827315032519544	1.0	0.9462711105543736	12	Q96HY6,O95831	2
Chondrosarcoma	0.9406199021207148	1.732157759828404	0.0832454774906987	1.0	0.9462711105543736	3	P48735,Q92804	2
Progeroid facial appearance	0.7197962805983535	1.7312441829696752	0.0834082220903238	1.0	0.9462711105543736	7	O75431,Q03252,O75844	3
Inverted nipples	0.6648046823239463	1.723818549397494	0.0847406048746806	1.0	0.947762244200359	9	Q15067,P56589,P61978,Q2TAA5	4
Abnormal circulating long chain fatty acid concentration	0.7550652180099375	1.7208943804375774	0.0852699915154941	1.0	0.94851180659255	5	O75381,P56589,P23786	3
Nephropathy	0.5387039463169325	1.7197020166580796	0.0854866210765032	1.0	0.94851180659255	19	P00403,Q10713	2
Skin nodule	0.5377197795985666	1.713280023617308	0.0866610356555919	1.0	0.94851180659255	19	P34913,P48735,Q9NSE4,P35637,O75874	5
Recurrent pancreatitis	0.9353737906982124	1.7127876186590985	0.0867516187585828	1.0	0.94851180659255	3	P00403	1
Cerebral palsy	0.6264217099585502	1.7120288626507412	0.086891349593386	1.0	0.94851180659255	11	P98175,P48735	2
Central apnea	0.7150400030910459	1.7099219761083706	0.0872803020534014	1.0	0.948574378301382	7	P07602,Q10713	2
Concentric hypertrophic cardiomyopathy	0.9322829296886356	1.701364761421637	0.0888745140560587	1.0	0.9504906905482128	3	P00403	1
Polar cataract	0.9289019431195976	1.688860980264196	0.0912460744201024	1.0	0.9504906905482128	3	P08670	1
Spondyloepimetaphyseal dysplasia	0.7466491934570624	1.6853875948058878	0.0919138154565772	1.0	0.9504906905482128	5	Q96HY6,O95831	2
Impaired vibration sensation in the lower limbs	0.5798172848517702	1.67639496794051	0.0936608539281831	1.0	0.9504906905482128	14	P00846,Q9NR77	2
Sparse lateral eyebrow	0.7418609750734738	1.6729829791174118	0.0943306468391622	1.0	0.9504906905482128	6	Q08J23,Q00577,P61978,Q14696	4
Periauricular skin pits	0.6704859123710507	1.6689822177436364	0.0951209039789495	1.0	0.9504906905482128	8	O96028,Q8N3U4,P61978	3
Hypoglycemic coma	0.650158427862821	1.6517754997211276	0.0985803249753136	1.0	0.9504906905482128	9	Q13423,Q16836	2
Abnormality of the phalanges of the toes	0.5737208145797996	1.6412619100598949	0.1007430592275142	1.0	0.9504906905482128	14	O75431,O75844,Q7LGA3,P98172,P02545	5
Episodic tachypnea	0.698374381613952	1.6349020581344624	0.1020695809707226	1.0	0.9504906905482128	7	Q10713	1
Aplasia hypoplasia involving the femoral head and neck	0.6969004556964229	1.628244825045211	0.1034729835686347	1.0	0.9504906905482128	7	Q96HY6,O95831	2
Abnormal circulating copper concentration	0.7328343237977635	1.6268936647641608	0.103759683725221	1.0	0.9504906905482128	5	Q15904,P35670	2
Goiter	0.7316477553620715	1.6218579264594184	0.1048337719792842	1.0	0.9504906905482128	5	P48735	1
Widened cerebral subarachnoid space	0.9078390550955407	1.6107729572264256	0.1072292173369193	1.0	0.9504906905482128	3	P00403	1
Deep palmar crease	0.5886108659309661	1.608609781802171	0.1077016939879889	1.0	0.9504906905482128	12	O75431,P98175	2
Fatigue	0.3731010915940183	1.6081182074931235	0.1078092922408395	1.0	0.9504906905482128	79	Q13423,Q4J6C6,P07602,Q70HW3,P50995,Q6UN15,P35637,Q96CV9,P46100,P17252,Q92804,Q15165,P09651	13
Abnormality of krebs cycle metabolism	0.7266366220022029	1.608037603789833	0.1078269433031207	1.0	0.9504906905482128	6	P00846	1
Cold induced muscle cramps	0.9065482728286468	1.605977517910518	0.1082788497700171	1.0	0.9504906905482128	3	Q9NR77	1
Dicarboxylic aciduria	0.5271836360640436	1.5921133070192932	0.1113592476329894	1.0	0.9504906905482128	24	P48735,Q16836,O43772,P23786	4
Proximal upper limb amyotrophy	0.6887114206600253	1.5911941337875672	0.1115658926698073	1.0	0.9504906905482128	7	P02545,Q9BTV4,O14979,P50402	4
Abnormality of the musculature of the upper arm	0.6887114206600251	1.5911941337875664	0.1115658926698075	1.0	0.9504906905482128	7	P02545,Q9BTV4,O14979,P50402	4
Dystrophic toenail	0.7224979293577465	1.5903275194049475	0.1117609986301406	1.0	0.9504906905482128	6	Q969G3,O75844	2
Macrogyria	0.6878715355962315	1.5873881589667742	0.1124247594531093	1.0	0.9504906905482128	7	Q8NAT1,Q15392	2
Microcytic anemia	0.6185929789932669	1.5789133131235686	0.1143559419197222	1.0	0.9504906905482128	10	Q9UBX3,P46100	2
Carcinoid tumor	0.7911585856838294	1.5778091113592796	0.1146094700115059	1.0	0.9504906905482128	4	P46100	1
Abnormality of subcutaneous fat tissue	0.5515833282914913	1.576988611424451	0.1147981455733941	1.0	0.9504906905482128	15	O75431,P36543,O75844,P41227,P02545,P17252	6
Peripheral axonal degeneration	0.4465174439974252	1.5767711032533018	0.1148482029573452	1.0	0.9504906905482128	66	P22626,Q8IV08,P07602,Q6DKK2,P00403,P41440,Q92734,Q9BPX6,Q96BR5,P17480,O95831,P00846,P02545,Q9BQT8,Q15067,P03915	16
Progressive external ophthalmoplegia	0.6173383638904455	1.5724818068505688	0.1158388551778375	1.0	0.9504906905482128	10	P00403	1
Polyneuropathy	0.5154599919343447	1.5671973879481589	0.1170685608274633	1.0	0.9504906905482128	19	P00846,P03915,O95831	3
Sensory ataxia	0.7880194708717881	1.5653521726636883	0.1175003561755967	1.0	0.9504906905482128	4	P54802,Q9NR77	2
Progressive hearing impairment	0.5805594536607592	1.564414831019569	0.1177201799816427	1.0	0.9504906905482128	12	P00403	1
Narrow nasal ridge	0.7162035050061725	1.563349967524071	0.1179703014149029	1.0	0.9504906905482128	6	O75431,O75844	2
Abnormality of salivation	0.5234235712249724	1.5617211003483054	0.1183537057844195	1.0	0.9504906905482128	40	Q15233,P55795,Q9NR77,P50995,Q96CV9,P15586,P34897,P35637,P46100,Q92804,Q14739,Q15165,P09651,Q03252	14
Increased circulating prolactin concentration	0.681634529809166	1.5590911302043158	0.1189748126861405	1.0	0.9504906905482128	7	O00170,Q969G3,Q9BUK6,Q99496	4
Progressive sensorineural hearing impairment	0.6141367072729239	1.5560554248658809	0.11969491335164	1.0	0.9504906905482128	10	P00403,P03915	2
Abnormal circulating porphyrin concentration	0.7855249937396778	1.5554471210991128	0.1198396190525732	1.0	0.9504906905482128	4	P22830,P50336	2
Neurodegeneration	0.5244877953910165	1.5533250159592926	0.1203455067756498	1.0	0.9504906905482128	27	Q6DKK2,P50995,Q96CV9,P35637,Q92804,P17480,Q15165	7
Dyschromatopsia	0.679820978970673	1.5508521621185047	0.1209371168005097	1.0	0.9504906905482128	7	Q9H6K4,Q9H061,Q9Y4W6	3
Coronary artery atherosclerosis	0.7840543552256243	1.549604992602262	0.1212363539176304	1.0	0.9504906905482128	4	P34913	1
Abnormal auditory evoked potentials	0.6455458706640298	1.5492348917355774	0.1213252646765488	1.0	0.9504906905482128	8	P20700,P07602	2
Abnormal synaptic transmission at the neuromuscular junction	0.522970433294316	1.5488843692144934	0.1214095190723631	1.0	0.9504906905482128	26	P50995,Q92734,P35637,Q96CV9,Q92804,Q15165,P09651	7
Generalized lipodystrophy	0.890701468189228	1.5470211893595445	0.1218581362227602	1.0	0.9504906905482128	3	O75431,O75844	2
Abnormal heart rate variability	0.7829236821708695	1.5451121264128935	0.1223191443165989	1.0	0.9504906905482128	4	P07602	1
Hyperconvex nail	0.6784761102756851	1.5447392938113205	0.1224093362921321	1.0	0.9504906905482128	7	O96028,P42892,Q9Y619,P48651	4
Coxa vara	0.5765553420042646	1.542384931333426	0.1229800811230781	1.0	0.9504906905482128	12	Q96AY3,O95831	2
Clonic seizure	0.6766581572079424	1.5364719206374085	0.1244226793749985	1.0	0.9504906905482128	7	P07602	1
Submucous cleft of soft and hard palate	0.5172630358198006	1.5340858084647255	0.1250085441407287	1.0	0.9504906905482128	23	Q15392,O75844,Q7LGA3,P02545,Q8NAT1,Q08J23,P48651	7
Wormian bones	0.510101334711756	1.5318100072185463	0.1255693258726167	1.0	0.9504906905482128	19	O75844,O95831,P02545,Q32P28,Q96AY3	5
Cupped ear	0.5649692891611489	1.5314524163789387	0.1256576180044748	1.0	0.9504906905482128	13	P42892	1
Subcutaneous nodule	0.5319566251407557	1.5277123366940648	0.1265839757563318	1.0	0.9504906905482128	16	O75874,P48735,P35637,Q9NSE4	4
Decerebrate rigidity	0.7781892185681588	1.5262876064729114	0.1269382538073475	1.0	0.9504906905482128	4	P07602	1
Occipital encephalocele	0.7087864407136875	1.5245040932383227	0.1273828351334929	1.0	0.9504906905482128	5	Q10713	1
Centrally nucleated skeletal muscle fibers	0.6391041975741972	1.518122222729468	0.1289835899097182	1.0	0.9504906905482128	8	P06753,P22626,Q9BPX6	3
Increased adipose tissue	0.8816592731252395	1.5133187471831095	0.1301987129367341	1.0	0.9504906905482128	3	O75431	1
Loss of eyelashes	0.8812512946400639	1.5117971749186807	0.1305854683331295	1.0	0.9504906905482128	3	O75844	1
Respiratory arrest	0.703819431187175	1.510129596984536	0.1310103586820037	1.0	0.9504906905482128	6	O43772	1
Slender build	0.5705557782442919	1.5093162613409163	0.13121798105004	1.0	0.9504906905482128	12	Q15233,Q9NSD9,P17252,P06753	4
Pituitary adenoma	0.6037016638129044	1.5023848206481296	0.132997754254128	1.0	0.9504906905482128	10	P48735	1
Lagopthalmos	0.8787145879440035	1.5023347268975782	0.1330106844127878	1.0	0.9504906905482128	3	O75844	1
Prominent eyelashes	0.6341603740663302	1.4941966382164429	0.1351242310377149	1.0	0.9504906905482128	8	Q92785,Q969G3,P20700,Q8TAQ2	4
Abnormal circulating free fatty acid concentration	0.7693204362996825	1.49097717890865	0.1359674865791251	1.0	0.9504906905482128	4	O75431,Q16836	2
Multiple prenatal fractures	0.6657302322635067	1.486677986181981	0.1370998795490468	1.0	0.9504906905482128	7	Q32P28,Q14696,O75718,P06753	4
Variable expressivity	0.3571276373287407	1.4863002187860668	0.1371997288820781	1.0	0.9504906905482128	80	Q70HW3,P00403,P06753,Q13868,Q00577,P07196,Q9Y5P6,Q9NR77,O15121,Q8TD16,Q8NI60,Q9Y276,P02545,P03915,Q9H061,Q9BX10,P07602,Q9Y4W6,O95470	19
Tinnitus	0.5363752609413667	1.4859623734095797	0.1372890737554719	1.0	0.9504906905482128	15	Q9NR28,Q969G3,O95831,Q9NR77	4
Titubation	0.616602119675559	1.485123403961944	0.137511137424078	1.0	0.9504906905482128	9	Q5JRX3,P20700,P35637,Q5T8D3	4
Axonal degeneration	0.6969685372467321	1.4806119267205826	0.1387100153474447	1.0	0.9504906905482128	6	Q9BQT8,Q6DKK2	2
Aplasia hypoplasia involving the pelvis	0.5824840239203213	1.479469464622361	0.1390148865587677	1.0	0.9504906905482128	11	Q96HY6,O95831	2
Cardiac conduction abnormality	0.515382321418	1.473650962094694	0.1405755924469771	1.0	0.9504906905482128	32	P23786,P00403,P00846,P03915,O43772	5
Stroke like episode	0.6946250626827174	1.470503228607417	0.141425511902516	1.0	0.9504906905482128	6	P00403	1
Calvarial hyperostosis	0.6947756931582297	1.4645595461769074	0.1430411258506667	1.0	0.9504906905482128	5	P22626,P09651	2
Generalized clonic seizure	0.691938498208918	1.4589075931940998	0.144590542944976	1.0	0.9504906905482128	6	P07602	1
Steroid resistant nephrotic syndrome	0.6922336232073378	1.4536634681981957	0.1460396311865621	1.0	0.9504906905482128	5	Q8N1F7,Q9BW27,Q12769	3
Mitochondrial myopathy	0.5113396311434469	1.452673072439314	0.1463145468305717	1.0	0.9504906905482128	29	Q86Y39,P00403,O96000,O43676,P00846,Q9Y6M9,P03915,Q9BUK6,Q96CU9	9
Abnormality of the parathyroid gland	0.503036469634946	1.448479524202497	0.1474829883987847	1.0	0.9504906905482128	22	P48735,P00403,P21964,P03915,O75874,P53680,Q08J23	7
Fasting hyperinsulinemia	0.7575325231890854	1.4439580353801649	0.1487507800413059	1.0	0.9504906905482128	4	Q16836	1
Shallow orbits	0.5916987036984052	1.4404164696468025	0.1497496068330437	1.0	0.9504906905482128	10	O75431,P61978,O75844	3
Talipes calcaneovalgus	0.6886946233677596	1.4384849210211197	0.1502965128754363	1.0	0.9504906905482128	5	Q9NR77	1
Aplasia hypoplasia involving the skeletal musculature	0.5747019885103347	1.4378922978148068	0.1504646154270423	1.0	0.9504906905482128	11	P06753,Q9NR77,Q9Y487,Q9H173,Q8NAT1	5
Prenatal maternal abnormality	0.5481505146198847	1.436032854093272	0.1509929927873314	1.0	0.9504906905482128	13	P16435,P02545,Q8TAA9,Q14739,O43772	5
Thoracic kyphoscoliosis	0.6864553016983892	1.435218954278472	0.1512247140253717	1.0	0.9504906905482128	6	P02545,O75844	2
Nemaline bodies	0.7549992062898915	1.433841778451541	0.1516174196262323	1.0	0.9504906905482128	4	O43676,P06753	2
Acanthosis nigricans	0.589842311704084	1.4308118229245732	0.1524841537248802	1.0	0.9504906905482128	10	P28070,O75431	2
Small placenta	0.8584698729759154	1.4267281619675742	0.1536582648884108	1.0	0.9504906905482128	3	O75844	1
Thin clavicles	0.8584698729759154	1.4267281619675742	0.1536582648884108	1.0	0.9504906905482128	3	O75844	1
Short umbilical cord	0.8584698729759154	1.4267281619675742	0.1536582648884108	1.0	0.9504906905482128	3	O75844	1
Heteronymous hemianopia	0.6858176327593941	1.42613803738837	0.1538285010458124	1.0	0.9504906905482128	5	O00170,Q969G3,Q99496	3
Adipose tissue loss	0.6047452926951061	1.4257719620306477	0.153934176646439	1.0	0.9504906905482128	9	O75431,Q03252,O75844	3
Increased sensitivity to ionizing radiation	0.6856962240011399	1.4256168541639986	0.1539789685394961	1.0	0.9504906905482128	5	Q969G3,Q99496	2
Viral hepatitis	0.6847087111591081	1.4213772324496363	0.1552071217016373	1.0	0.9504906905482128	5	P11717,Q9NWH9,P04637	3
Subacute progressive viral hepatitis	0.6847087111591081	1.4213772324496363	0.1552071217016373	1.0	0.9504906905482128	5	P11717,Q9NWH9,P04637	3
Aplasia hypoplasia of the cerebral white matter	0.6038627021323946	1.4213455201378096	0.1552163362129461	1.0	0.9504906905482128	9	P00403	1
Recurrent paroxysmal headache	0.5875232724983412	1.418806267669308	0.1559555049017509	1.0	0.9504906905482128	10	P00403	1
Abnormal corpus striatum morphology	0.5142852613540536	1.418316815237635	0.1560982895464326	1.0	0.9504906905482128	16	O95831	1
Premature graying of hair	0.6182414680853842	1.4168972948133898	0.1565129575526445	1.0	0.9504906905482128	8	Q13126	1
Upper limb postural tremor	0.8548416133952605	1.4131645911176636	0.1576073351166456	1.0	0.9504906905482128	3	Q9NR77	1
Primary adrenal insufficiency	0.5240363619470589	1.4117525545258292	0.1580228329719939	1.0	0.9504906905482128	15	Q13423,Q969G3,P40855,O75381,P56589	5
Lower limb pain	0.6806188335174448	1.4099730841861375	0.1585476306785855	1.0	0.9504906905482128	6	P00846	1
Gonadal neoplasm	0.4950323266506375	1.4061243210873988	0.1596872115098868	1.0	0.951434799467284	21	O75874,Q13423,P48735,P02545	4
Wide cranial sutures	0.6468214162352981	1.4001575179893584	0.1614661541297131	1.0	0.9557068563747207	7	P02545,P98175,O75844	3
Abnormal circulating non proteinogenic amino acid concentration	0.6462930760706628	1.397734113540375	0.162192926130241	1.0	0.9557068563747207	7	P00846	1
Ketotic hypoglycemia	0.8501513725831712	1.3956267820769164	0.1628269131010267	1.0	0.9557068563747207	3	Q13423	1
Sensory neuropathy	0.5041215483673063	1.3953057315251232	0.1629236644434937	1.0	0.9557068563747207	31	P22626,Q8IV08,Q9NSE4,P00403,Q92734,O95831,P00846,Q15067,P03915	9
Abnormality of skull ossification	0.5493388266984967	1.3918544841127296	0.1639664672464078	1.0	0.9561694185616044	12	P02545,Q32P28,P54802,O75844	4
Upper limb muscle weakness	0.4982286390178272	1.3869713221234985	0.1654505077275891	1.0	0.9561694185616044	25	Q9BTV4,P50336,P50402,Q92734,P00846,P02545,Q9Y6X9,P36551,P07196,Q969G3,Q9Y5P6	11
Horizontal nystagmus	0.4968162323805439	1.3861618344319095	0.1656974925291501	1.0	0.9561694185616044	24	Q9NSE4,P07602,O95831,P00846,Q9H061	5
Episodic respiratory distress	0.8474053905478285	1.3853571500390272	0.1659432866132837	1.0	0.9561694185616044	3	P00846	1
Corneal ulceration	0.6745675631987142	1.377797616555751	0.1682657821220146	1.0	0.956476573587615	5	Q96EK5,O75844	2
Neoplasm of the parathyroid gland	0.6727891930249416	1.3701483009071185	0.1706406128256956	1.0	0.9587131042254364	5	P48735	1
Parathyroid adenoma	0.6727891930249416	1.3701483009071185	0.1706406128256956	1.0	0.9587131042254364	5	P48735	1
Diffuse white matter abnormalities	0.5929252729233311	1.3664026183149585	0.1718126274375073	1.0	0.9603672727667032	9	Q9Y5P6,O14936,P16278	3
Postaxial polydactyly	0.4829470730802402	1.3659767870420838	0.1719462494079224	1.0	0.9603672727667032	18	O00459,P61978,P98175,P17252,Q14739,Q9Y2V7,Q10713	7
Perseveration	0.6705776665125306	1.3606331909714608	0.1736296371399257	1.0	0.9604227419208126	5	P35637	1
Diastema	0.5916862448446836	1.3601687860865352	0.1737765177380061	1.0	0.9604227419208126	9	P46100,P17252	2
Abnormal renal tubule morphology	0.4897658804641606	1.3589792472822757	0.1741531649211356	1.0	0.9604227419208126	22	P00846,P23786	2
Ventricular escape rhythm	0.6687138664447714	1.3526120039756573	0.1761796155175345	1.0	0.9604227419208126	5	P02545,P50402	2
Frontotemporal dementia	0.6045578251087541	1.3501695440489296	0.1769616050210283	1.0	0.9604227419208126	8	P35637,P22626,P09651	3
Oral aversion	0.5895182851581056	1.349256879083238	0.1772544708705101	1.0	0.9604227419208126	9	P35610,Q8TAQ2,Q92785,Q969G3,O14497	5
Proximal muscle weakness in upper limbs	0.5234906762047667	1.3486412913600796	0.1774522111207397	1.0	0.9604227419208126	14	Q9BTV4,P50336,P50402,P02545,P07196,Q9Y6X9,Q9Y5P6	7
Heparan sulfate excretion in urine	0.733581121781563	1.3481852237109204	0.1775988159381498	1.0	0.9604227419208126	4	P54802	1
Intellectual disability progressive	0.5414681106269038	1.348106872951509	0.1776240111866474	1.0	0.9604227419208126	12	P46100,O95831	2
Increased cerebral lipofuscin	0.6659429620620144	1.3406834920140709	0.1800232365097929	1.0	0.9683070015494524	5	O14773,P07602,P50897	3
Phenotypic variability	0.3588749964541166	1.3367810401992484	0.1812941197658648	1.0	0.9683070015494524	103	Q70HW3,P00403,P06753,Q13868,Q00577,P07196,Q9Y5P6,Q9NR77,Q92733,P41227,O15121,Q8TD16,P00846,Q8NI60,Q9Y276,P02545,Q969G3,P03915,Q9H061,O14979,Q9BX10,P07602,P50995,Q9Y4W6,O95470	25
Proximal tubulopathy	0.4905308722813566	1.3341846782695366	0.182143339629119	1.0	0.9683070015494524	25	Q86Y39,Q8N183,P00403,O96000,O43676,Q9Y6M9,P03915,Q96CU9	8
Micromelia	0.4840755190871874	1.3324643377598766	0.1827076526744182	1.0	0.9683070015494524	21	O75874,P48735,Q96HY6,Q15392	4
Pathologic fracture	0.5383309508778082	1.3306484612699618	0.1833047087725556	1.0	0.9683070015494524	12	Q13126,P22626,P09651,Q14108	4
Limb girdle muscular dystrophy	0.585410334520213	1.3285657810813352	0.1839912677509523	1.0	0.9683070015494524	9	P02545,P09651,O14979,P50402	4
Oromandibular dystonia	0.7283051323002987	1.3270584267216854	0.1844893561360456	1.0	0.9683070015494524	4	P35637	1
Atrophy degeneration involving the spinal cord	0.660759296573824	1.3238655333137728	0.1855477068527045	1.0	0.9683070015494524	6	P07196,P20700,Q13217	3
Protrusio acetabuli	0.8308191361946093	1.323312019514962	0.1857316362023153	1.0	0.9683070015494524	3	Q96AY3	1
Muscle fiber inclusion bodies	0.5529346421449359	1.321125475947426	0.1864595298028035	1.0	0.9683070015494524	11	P07196,P09651,O43676,P06753	4
Cystic renal dysplasia	0.8292160890637114	1.317315251036984	0.187732975189977	1.0	0.9710914807554264	3	P23786	1
Cranial asymmetry	0.725557507674093	1.3160532797292854	0.1881561605455652	1.0	0.9721139888523138	4	O96028,P40855	2
Limb tremor	0.6592077463263024	1.3116737468994693	0.189630238414638	1.0	0.9739944057287048	5	Q9NR77	1
Abnormal thyroid morphology	0.4926193711832047	1.3112248036868115	0.1897818247688194	1.0	0.9739944057287048	36	P48735,P00813,P02545,P42892,Q969G3,P20585,O75874	7
Hypoventilation	0.5345651499312933	1.3096776017984906	0.1903049238462353	1.0	0.9739944057287048	12	P06753,P61978,Q8N183	3
Abnormal muscle fiber protein expression	0.6268328545714108	1.3082880746657437	0.1907756184317706	1.0	0.974647154995982	7	P02545,Q9BTV4,P50402	3
Abnormal oral physiology	0.4690699015529117	1.3037546607979402	0.192317245835381	1.0	0.9767226889285224	52	Q15233,P55795,P06753,Q9NR77,P50995,Q6UN15,Q96CV9,P15586,P35637,P46100,Q92804,Q15165,P09651,Q03252	14
Abnormality of circulating adrenocorticotropin level	0.5484519543000916	1.2970092007775944	0.1946280210603286	1.0	0.9792312174792585	11	Q13423,Q969G3,P46100,P16435	4
Delayed cranial suture closure	0.4879093513859703	1.293971002356048	0.1956754372103113	1.0	0.9816040599607996	28	O75431,O75844,P36543,P41227,P16435,P02545,Q32P28,P40855,O75381,O75718,Q08J23,P48651	12
Myositis	0.5929922016535644	1.2936010190216711	0.195803270308525	1.0	0.9816040599607996	8	P28070	1
Migraine	0.477323570170443	1.2869828792689957	0.1981002556222708	1.0	0.9876805734858454	21	P00403	1
Type ii lissencephaly	0.6527886775297292	1.2840094513546318	0.1991386484494701	1.0	0.9906875713027192	5	Q8NAT1	1
Secondary growth hormone deficiency	0.7164234303723416	1.279459187543639	0.2007354027086005	1.0	0.9913136055628587	4	O00170,Q969G3	2
Left ventricular hypertrophy	0.4761252274362884	1.278905208147995	0.2009304384053232	1.0	0.9913136055628587	21	P00403,O75431,P03915	3
Ureteral duplication	0.6499548431977145	1.2769165520947334	0.2016317098116673	1.0	0.9915893572420464	6	P02545,O75844,P23786	3
Limited wrist movement	0.650979887318941	1.2762118922320396	0.2018806258827827	1.0	0.9915893572420464	5	Q9H6K4,O75844	2
Decreased circulating total igm	0.5894114681789133	1.276061022540155	0.2019339486299158	1.0	0.9915893572420464	8	P00813	1
Distal lower limb amyotrophy	0.5191715007242326	1.2705927930439185	0.2038735521928982	1.0	0.995940354140836	13	P06753,Q92734,Q9NR77,Q8TD16,P02545,P07196	6
Chondrocalcinosis	0.6491657861038315	1.2683906667865583	0.2046584729748635	1.0	0.995940354140836	5	P02545,P53680	2
Increased serum lactate	0.3543792445211674	1.263748240527497	0.2063204043221331	1.0	0.995940354140836	104	Q70HW3,P00403,Q5JRX3,Q9BWD1,Q9P0J0,Q9Y6M9,P35610,O95831,P00846,Q8NI60,O14949,Q9UBX3,Q9Y584,P22695,P03915,Q96CU9,Q5U5X0,Q86Y39,Q8N183	19
Hypoparathyroidism	0.5090122275187283	1.2635316704602095	0.2063981723047097	1.0	0.995940354140836	14	P21964,P00403,P03915	3
Oculomotor nerve palsy	0.6480148305533397	1.2634281457193233	0.2064353544445833	1.0	0.995940354140836	5	O00170,Q969G3	2
Proximal muscle weakness	0.4203559566799378	1.2630740102569018	0.2065625831770532	1.0	0.995940354140836	65	P50336,P06753,Q13126,P07196,Q9Y5P6,Q8TD16,P00846,Q86U42,Q8NI60,P17252,Q5T8D3,Q8NAT1,P35670,P22626,P50402,P02545,Q9Y6X9,Q9BUK6,Q9BTV4,Q9BPX6,Q92734,P35637,Q8NFF5,Q9BQT8,P36551,P09651	26
Muscle hypertrophy of the lower extremities	0.5573544993052828	1.262010238151364	0.20694510236941	1.0	0.995940354140836	10	P02545,Q8NAT1,Q9NR77	3
Abnormality of dental color	0.8142436780264817	1.2613211544578835	0.2071931625124516	1.0	0.995940354140836	3	Q6P4Q7	1
Shoulder girdle muscle weakness	0.5416545092281952	1.260406143983973	0.207522886403048	1.0	0.995940354140836	11	P07602,O14979,P06753	3
Toxemia of pregnancy	0.6449840174824942	1.255300036245666	0.2093698620216586	1.0	0.995940354140836	6	Q14739,P02545,O43772	3
Episodic pain	0.5073696551278883	1.2538640021772882	0.2098914412302734	1.0	0.9962730349115796	14	Q13423,P23786	2
Elbow flexion contracture	0.4768915999493549	1.2500704421743796	0.2112738160691558	1.0	1.0	24	P50402,P37268,Q7LGA3,P23786,P06753,P16435,P02545,Q96AY3,P48651	9
Reduced forced vital capacity	0.7083489136108212	1.2471054580093626	0.2123588319345275	1.0	1.0	4	Q9BQT8,P06753	2
Disproportionate short stature	0.4712060452626064	1.245732559370913	0.2128625960312247	1.0	1.0	21	Q15392,Q7LGA3,Q03164,Q14696,Q32P28,O75718,P16278,Q96HY6	8
Broad phalanx of the toes	0.6419643685400086	1.2421648268153989	0.214175754155264	1.0	1.0	6	Q7LGA3,P98172	2
Visual field defect	0.4738428001306364	1.240331691398023	0.21485273516727	1.0	1.0	46	Q9H6K4,P00403,P00846,O75381,P56589,P03915,Q9H061	7
Hypoplasia of the iris	0.706254431564345	1.2387134869203038	0.2154516222362976	1.0	1.0	4	O96028,Q7LGA3	2
Very long chain fatty acid accumulation	0.6411069628403444	1.2384347667136564	0.2155548960813871	1.0	1.0	6	P56589,P40855,O75381	3
Hypoplastic fifth fingernail	0.6110274204375526	1.2354334720715632	0.2166692219070285	1.0	1.0	7	Q92785,Q969G3,Q8TAQ2	3
Hypoplasia of the musculature	0.6413727804322826	1.2347862596958696	0.2169100624226652	1.0	1.0	5	Q9NR77,Q9Y487,P06753	3
Myopathic facies	0.6387681041854374	1.2282589974901514	0.2193497577446299	1.0	1.0	6	Q00577,Q9BUK6,Q9Y5P6,P06753	4
Chorioretinal dysplasia	0.6396389637342742	1.2273091191947416	0.2197064294214206	1.0	1.0	5	Q8NAT1	1
Brisk reflexes	0.4718304640521024	1.226086468391877	0.2201661374235817	1.0	1.0	23	Q5JRX3,P35637,Q8NI60,Q10713	4
Diffuse mesangial sclerosis	0.4927982830041262	1.2228679648681977	0.22137956995122	1.0	1.0	15	Q8NFH4,P00813,Q14C86,Q8N1F7,Q12769	5
Rhabdomyolysis	0.5180036153530376	1.2173126406237482	0.2234852866706433	1.0	1.0	12	O43772	1
Abnormality of the temporomandibular joint	0.8016412922425464	1.2142350540849016	0.2246579781429547	1.0	1.0	3	O75844	1
Abnormal lacrimal duct morphology	0.6364164533113681	1.213411956019725	0.2249723574557305	1.0	1.0	5	P48651	1
Abnormal circulating ferritin concentration	0.6040476235272845	1.203223354996098	0.2288898994211039	1.0	1.0	7	Q9Y276,P41440	2
Decreased cervical spine flexion due to contractures of posterior cervical muscles	0.6329392293798957	1.202895480465943	0.2290167695141118	1.0	1.0	6	P02545,P50402	2
Axial muscle weakness	0.697104671759318	1.2020606641921228	0.2293400251887263	1.0	1.0	4	P02545,Q8TD16	2
Brushfield spots	0.6968945838738	1.2012192891172773	0.2296661489323428	1.0	1.0	4	P56589,O75381	2
Abnormal neuron morphology	0.4720284345425818	1.1981063490437822	0.2308756174552084	1.0	1.0	26	P22626,P50995,Q92734,Q96CV9,P35637,Q92804,Q15165	7
Type i diabetes mellitus	0.5140773924003522	1.195394807450007	0.2319328134692511	1.0	1.0	12	P00403	1
Pulmonary carcinoid tumor	0.796320698516404	1.1943755550252169	0.2323310945895631	1.0	1.0	3	P46100	1
Nasolacrimal duct obstruction	0.6943234951312713	1.190923437708914	0.2336836425668884	1.0	1.0	4	P48651	1
Head titubation	0.6289579258288868	1.1855701205031024	0.2357921078786242	1.0	1.0	6	P35637	1
Abnormality of the brainstem white matter	0.7934611034970454	1.1837080057618348	0.2365286687847667	1.0	1.0	3	Q10713	1
Decreased calvarial ossification	0.6922907367994606	1.1827848047472544	0.2368944442376916	1.0	1.0	4	P02545,O75844	2
Fasting hypoglycemia	0.7921632673410461	1.1788680480114353	0.2384507226264642	1.0	1.0	3	O43772	1
Progressive gait ataxia	0.5407455209619859	1.1753629581769474	0.2398495363561248	1.0	1.0	10	P00846	1
Epispadias	0.7911908646003194	1.175242375594918	0.2398977612478909	1.0	1.0	3	P48651,P53701	2
Limb girdle muscle weakness	0.4673449757325604	1.1747933982162362	0.2400773819897148	1.0	1.0	25	P07602,P06753,Q8TD16,Q13126,P02545,O14979,Q9Y5P6	7
Metatarsus adductus	0.5253848997986958	1.1726883337961878	0.2409208114371219	1.0	1.0	11	Q08J23,Q15392,Q03252	3
Platyspondyly	0.4732218898989035	1.1720607991847518	0.2411726470182111	1.0	1.0	32	P48735,P00813,O95831,Q32P28,Q96AY3,Q96HY6	6
Abnormal peripheral myelination	0.4717592905152476	1.1694626525120932	0.2422172800049886	1.0	1.0	30	P07602,Q9NR77,Q92734,P00846,P02545,P17480,P03915	7
Thickened nuchal skin fold	0.5240647060482433	1.16556712276412	0.2437895069454752	1.0	1.0	11	P56589,P61978,P98172,O75381	4
Supranuclear gaze palsy	0.4828959043620604	1.1628361024423104	0.244896006351853	1.0	1.0	15	P35637,P07602	2
Psychomotor deterioration	0.5516699061407793	1.158095481875439	0.2468250735962174	1.0	1.0	9	P07602,P36543,P06865,Q9Y487,Q03164	5
Widely spaced incisors	0.6231423270889174	1.1561818142782094	0.2476067967553508	1.0	1.0	5	P46100	1
Limb girdle muscle atrophy	0.4905907525367304	1.155041285075787	0.248073520385919	1.0	1.0	14	Q9BTV4,P06753,P50402,Q14331,P02545,Q9Y6X9,P09651,O14979	8
Ventricular hypertrophy	0.4707175390194963	1.1541034538670365	0.2484577575459412	1.0	1.0	32	Q15233,O75431,O75844,P00403,P23786,P03915,O43772	7
Knee flexion contracture	0.4677982566419124	1.1533494826401345	0.2487669674910189	1.0	1.0	28	P48651,P06753,P37268,P23786,Q7LGA3,P36543,Q8TD16,O75477,Q96AY3,Q86XL3,Q9Y5P6	11
Supernumerary bones of the axial skeleton	0.6844487020311963	1.1514027973502698	0.249566563546058	1.0	1.0	4	Q9Y5S9,O75431	2
Abducens palsy	0.7845930629217162	1.1506582246731358	0.2498728692091245	1.0	1.0	3	P07602	1
Symphalangism affecting the phalanges of the hand	0.7845454958026175	1.1504810937262075	0.2499457767918937	1.0	1.0	3	Q15233	1
Proximal symphalangism	0.7845454958026175	1.1504810937262075	0.2499457767918937	1.0	1.0	3	Q15233	1
Mania	0.5053053038196114	1.1464183723431074	0.251622084383645	1.0	1.0	12	P00403	1
Abnormality of the parathyroid morphology	0.6198528020317193	1.1459519202795427	0.2518150464674744	1.0	1.0	6	P48735	1
Babinski sign	0.3316685369953162	1.1420527413500936	0.2534320975589292	1.0	1.0	88	P10809,P07602,Q6DKK2,Q9NR77,P41440,P35637,O15121,O95831,P00846,Q15067	10
Vertebral compression fracture	0.4698450613380648	1.141184925948299	0.2537929759004731	1.0	1.0	16	Q14696,Q32P28,Q96AY3,Q14108,O75718,Q96HY6	6
Abnormal placental size	0.6816918536597829	1.14037759369475	0.254129023566183	1.0	1.0	4	O75844	1
Global brain atrophy	0.4511847391560962	1.1390481880592844	0.2546830559631163	1.0	1.0	19	P07602	1
Onion bulb formation	0.5899941831607717	1.1383430942222537	0.2549772459192652	1.0	1.0	7	P07196,P02545,Q9NR77	3
Abnormal ureter morphology	0.4528493368626973	1.135613017319018	0.2561185584776455	1.0	1.0	20	O14936,P23786,O75844,P41227,Q7LGA3,P02545	6
Constriction of peripheral visual field	0.4565094370546736	1.13373193367607	0.2569070101958002	1.0	1.0	22	P00846,Q9H061,O75381	3
Premature rupture of membranes	0.616933687469373	1.1332537508189666	0.2571077077047541	1.0	1.0	6	P02545,O75844	2
Tongue fasciculations	0.5177422077912097	1.1314636839287704	0.2578599803508912	1.0	1.0	11	Q9BQT8,O95831	2
Fibrous tissue neoplasm	0.450007532860969	1.1311705149607378	0.2579833294555138	1.0	1.0	19	Q13126,Q15392	2
Aganglionic megacolon	0.4679979505229013	1.1296451664332368	0.2586257710677144	1.0	1.0	16	Q96EK5,P42892,P46100,Q10713	4
Generalized muscle weakness	0.465191901990298	1.1286006157405164	0.2590663508387867	1.0	1.0	29	P50995,Q96CV9,P35637,O95831,Q92804,Q15165,P09651	7
Ovarian neoplasm	0.4573358212235985	1.125295513113567	0.260463830434172	1.0	1.0	17	O75874,P02545,P48735	3
Mitral valve calcification	0.677804385046452	1.1248383501459776	0.2606575401599575	1.0	1.0	4	O75431,O75844	2
Cardiac valve calcification	0.677804385046452	1.1248383501459776	0.2606575401599575	1.0	1.0	4	O75431,O75844	2
Abnormality of the pulmonary veins	0.6147998489371458	1.1239732262758115	0.2610243843349171	1.0	1.0	6	Q15392	1
Shawl scrotum	0.6145465965967141	1.122871885327789	0.2614919095583645	1.0	1.0	6	P46100	1
Progressive psychomotor deterioration	0.5576085406546905	1.1199387431604693	0.2627398668659948	1.0	1.0	8	Q10713	1
Atrophy degeneration affecting the brainstem	0.5155659258932253	1.1197263436139713	0.2628303954222306	1.0	1.0	11	O15121,Q13217	2
Abnormal mitochondria in muscle tissue	0.4556858590179238	1.116131881353417	0.2643656871777358	1.0	1.0	23	Q86Y39,P00403,O96000,O43676,Q9Y6M9,P03915,Q96CU9	7
Abnormal shoulder physiology	0.7752293464528184	1.115823812982404	0.2644975585655387	1.0	1.0	3	O75844	1
Cns demyelination	0.4918270363111878	1.1139135569291705	0.265316272849442	1.0	1.0	13	Q15067,P07602,P40855	3
Exostoses	0.6745591818517715	1.111873995501644	0.2661923310146297	1.0	1.0	4	P48735	1
Increased serum pyruvate	0.4649103870321186	1.1096261429544636	0.2671601610169314	1.0	1.0	33	Q86Y39,Q70HW3,Q5JRX3,O96000,O43676,Q9BWD1,O95831,P22695,Q9Y6M9,Q96CU9	10
Slender long bone	0.4986221724963884	1.1091138040782484	0.267381090607163	1.0	1.0	12	P37268,Q32P28,Q9Y487	3
High frequency sensorineural hearing impairment	0.6737880836006414	1.1087946179016397	0.267518792821374	1.0	1.0	4	Q9NWM8,O75844	2
Aplasia hypoplasia of the sternum	0.7723792416091173	1.105235971796481	0.2690573537226073	1.0	1.0	3	P98175	1
Left ventricular systolic dysfunction	0.6109377560609528	1.1036193502450156	0.2697582936800435	1.0	1.0	5	P02545,P49748,O75844	3
Dolichocephaly	0.4569626180001476	1.1033824069858942	0.2698611334610352	1.0	1.0	25	Q4J6C6,O96028,Q03164,P61978,P46100,P40855,O75381,P56589	8
Abnormal circulating pyruvate family amino acid concentration	0.4433187728327825	1.102054795383299	0.2704378502578004	1.0	1.0	18	P22695,O96000,P00846,P03915	4
Incomplete penetrance	0.4613657205524135	1.1016948601305263	0.2705943522504297	1.0	1.0	29	O43707,Q92733,P50995,O95453,P00846,Q9UBB4,Q9NWH9,P36551,Q969G3,P03915,O14979	11
Short upper lip	0.671631735511549	1.1001856492751343	0.2712512419544219	1.0	1.0	4	O96028,P46100	2
Abnormal light and dark adapted electroretinogram	0.5806474342679534	1.095201012759666	0.2734285821108664	1.0	1.0	7	P00846	1
Abnormal full field electroretinogram	0.5806474342679534	1.095201012759666	0.2734285821108664	1.0	1.0	7	P00846	1
Somatic mutation	0.4611705515730634	1.0945010394586414	0.273735291737879	1.0	1.0	41	Q01844,Q93052,P00813,Q92733,O00170,P30154,P46100,P11717,Q92804,O75874,P20585	11
Barrel shaped chest	0.6692387566405581	1.090636317543732	0.2754329424124828	1.0	1.0	4	Q32P28	1
Cyanosis	0.4415243577386497	1.0900997941042756	0.2756691869989605	1.0	1.0	18	P98175,O43772,O75844	3
Muscle fibrillation	0.4708848102277509	1.0900372046455888	0.2756967556929461	1.0	1.0	15	Q96CV9,Q9BQT8,O95831	3
Triangular mouth	0.6077018775380838	1.0896982889536515	0.2758460700967688	1.0	1.0	5	Q10713	1
Metatarsus valgus	0.6688310666572634	1.08900988416039	0.276149526973942	1.0	1.0	4	Q8NAT1	1
Recurrent fever	0.4511304374743341	1.0852982746227748	0.2777895698341543	1.0	1.0	17	P28070,P61978,Q9NR77	3
Decreased circulating igg level	0.4866193788702718	1.0840865916270892	0.2783264073110607	1.0	1.0	13	P00813	1
Abnormal circulating dicarboxylic acid concentration	0.4595482848255509	1.0820592203144477	0.2792262145218904	1.0	1.0	41	P48735,P55263,O14936,P23786,P37268,P41440,Q16134,P22695,P40855,Q9NSD9	10
Mottled pigmentation	0.7658794405947904	1.0811195983432071	0.2796439166074866	1.0	1.0	3	O75844	1
Supraventricular arrhythmia	0.4597500560950652	1.078140539212452	0.2809710425899121	1.0	1.0	16	Q8WXH0,Q9BTV4,P50402,P41227,Q8NFF5,P00846,P02545,P12235	8
Limb joint contracture	0.3347378857278295	1.076469908172799	0.2817171518835015	1.0	1.0	97	Q5JTV8,P06753,P98172,O75477,P07196,P42892,Q08J23,Q9Y5P6,Q9NR77,O75844,P41227,P37268,Q8TD16,Q8IZA0,O00459,Q15392,P23786,P50402,Q7LGA3,P16435,P02545,Q96AY3,Q86XL3,Q9Y6X9,P48651,Q9BTV4,P36543,P35637	28
Low plasma citrulline	0.970319634703195	1.070985529432103	0.2841759362161387	1.0	1.0	2	P00846	1
Vascular tortuosity	0.970319634703195	1.070985529432103	0.2841759362161387	1.0	1.0	2	P00846	1
Retinal arterial tortuosity	0.970319634703195	1.070985529432103	0.2841759362161387	1.0	1.0	2	P00846	1
Multiple glomerular cysts	0.970319634703195	1.070985529432103	0.2841759362161387	1.0	1.0	2	P00846	1
Leber optic atrophy	0.970319634703195	1.070985529432103	0.2841759362161387	1.0	1.0	2	P00846	1
Optic disc coloboma	0.7628058727569161	1.0697312404029338	0.2847403001415545	1.0	1.0	3	P41227,Q10713	2
Abnormality of the intrahepatic bile duct	0.7620194596485114	1.066819090133999	0.2860535363976551	1.0	1.0	3	Q10713	1
Abnormal placenta morphology	0.5739824856915982	1.0644570629515553	0.287121695444509	1.0	1.0	7	P02545,P16278,O75844	3
Nephrotic syndrome	0.4480464989546491	1.0641494012855717	0.2872610245298013	1.0	1.0	23	P00813,Q14108,Q8N1F7,O95721,Q03252,Q12769	6
Abnormality of hepatobiliary system physiology	0.3432971545707276	1.0640945272676383	0.2872858798257067	1.0	1.0	77	P22830,Q9NSD9,O43772,P00846,P40855,O75381,P56589,P28288,Q10713,P23786,P22695,Q8N511,P03915,P55263,Q16836,P46100,O15118,Q16625,Q8TCJ2	19
Limited elbow movement	0.4584811827041962	1.0632672012556723	0.2876607946962468	1.0	1.0	33	Q9H6K4,P50402,P23786,P37268,P06753,Q7LGA3,P16435,P02545,Q8WVM7,Q96AY3,P48651	11
Neuronal loss in central nervous system	0.4899536832416461	1.0607650766958725	0.2887966770304515	1.0	1.0	12	P35637,P07602	2
Personality changes	0.4658633964494511	1.0596314503938042	0.2893122997659607	1.0	1.0	15	P00403	1
Aplasia hypoplasia involving the nose	0.4489902085282081	1.0591735481554234	0.2895207494166771	1.0	1.0	24	O75431,P55795,O75844,P61978,P02545,Q00577,Q8N3U4,Q08J23	8
Neoplasm of fatty tissue	0.5041326404952915	1.0580990382738216	0.2900102928387418	1.0	1.0	11	Q8TAA9,P53680,P03915,Q9BUK6	4
Optic neuropathy	0.4483740959648359	1.0549644167044845	0.2914415991113028	1.0	1.0	24	Q86Y39,Q8N183,O96000,O43676,P00846,Q9Y6M9,P03915,Q96CU9	8
Contractures of the joints of the upper limbs	0.3957787225793421	1.0541184093450071	0.291828708733155	1.0	1.0	66	Q9Y619,P06753,P98172,P07196,P42892,O75844,Q9NR77,P41227,P37268,Q8IZA0,Q15392,P50402,P23786,Q7LGA3,P16435,P02545,Q96AY3,Q9Y6X9,P48651,Q9BTV4,P35637,Q99567	22
Abnormality of the musculature of the thigh	0.5431326541291659	1.0488322797004783	0.2942553179821545	1.0	1.0	8	P02545,Q9BTV4,O14979,P50402	4
Alveolar ridge overgrowth	0.963470319634702	1.0477571248666573	0.2947505209538503	1.0	1.0	2	Q15392	1
Tubulointerstitial nephritis	0.5978286736020693	1.047277378890307	0.2949716660875785	1.0	1.0	5	P23786	1
Sepsis	0.448547040091234	1.0455683157388205	0.2957603841376253	1.0	1.0	25	P00813	1
Mental deterioration	0.3249323651281723	1.036994616816899	0.299738365963478	1.0	1.0	89	P00403,P21964,P54802,Q14108,P16278,Q03164,P00846,Q9UBB4,Q96F07,P35670,Q10713,P22626,P03915,P07602,P36543,P35637,O15118,P17480,P20700,P09651,O95470	21
Ethylmalonic aciduria	0.5949123218236206	1.034765764325266	0.3007783149423315	1.0	1.0	5	Q16134	1
Abnormal circulating iga level	0.4773935406639773	1.0313046917379505	0.3023979588695387	1.0	1.0	13	P00813	1
Multiple enchondromatosis	0.5934387796798777	1.0312066240751925	0.302443934993073	1.0	1.0	6	O75874,P48735	2
Abnormal cartilage morphology	0.499121221047433	1.0311180703030265	0.3024854548053195	1.0	1.0	11	O75874,Q7LGA3,P48735	3
Hand muscle weakness	0.4989157122595721	1.0300121936475677	0.3030042815788003	1.0	1.0	11	P07196,Q8TD16,Q9Y6X9,Q9NR77	4
Pulmonary hypoplasia	0.4402301102447768	1.0235183860780444	0.3060628112584289	1.0	1.0	22	O75844,P41227,O96000,Q16134,P02545,Q8TAA9,P98175,Q14739	8
Increased intramyocellular lipid droplets	0.5903329283025804	1.017748960087693	0.3087972733800943	1.0	1.0	6	Q8NI60,Q9BUK6	2
Generalized hyperkeratosis	0.6497891475315805	1.013232580896651	0.3109490816196261	1.0	1.0	4	P02545,O75844	2
Respiratory failure	0.4066249858384443	1.0107549570270569	0.3121337263725841	1.0	1.0	62	Q5U5X0,P07602,P06753,Q70HW3,P23786,Q8N183,Q96CV9,P50995,Q92734,P35637,Q92804,Q9NSD9,Q15165,P09651	14
Dysdiadochokinesis	0.4734010676478653	1.0084968774633816	0.3132159860037795	1.0	1.0	13	Q6DKK2,P41440,Q9Y4W6,P20700,Q9BUK6	5
Ocular pain	0.6484986945169606	1.0081128864317468	0.3134002719261008	1.0	1.0	4	O75533,Q15043,Q99496	3
Action tremor	0.4342261673038834	1.0057318043416117	0.314544599725552	1.0	1.0	52	Q15233,Q9H6K4,P07602,Q9NR77,Q5JRX3,P41440,O14773,P35637,Q9Y4W6,P00846,Q9UBB4,Q14108,P20700,P03915	14
Decreased circulating cortisol level	0.534299306765941	1.0054920539364316	0.3146599737659035	1.0	1.0	8	Q13423,Q969G3	2
Abnormal chorioretinal morphology	0.444128420959695	1.005368187596314	0.3147195923217585	1.0	1.0	26	P04439,Q9Y619,O14936,P53701,P41227,O60826,Q8NAT1,P40855,O75381,P56589,Q10713	11
Redundant neck skin	0.560839319590948	1.0039189810041047	0.3154176667936348	1.0	1.0	7	O96000,Q9Y487,P36543	3
Abnormality of the upper respiratory tract	0.3259998765165212	1.0037953516873228	0.3154772653737274	1.0	1.0	93	P00813,P21964,P54802,Q96CV9,Q13428,P28070,Q03519,P15586,Q86U42,Q92804,Q15165,P16435,P02545,Q969G3,Q96HY6,P07602,P36543,P50995,P35637,P46100,P09651	21
Hyporeflexia of upper limbs	0.9504240052185228	1.0037193279346457	0.3155139181829511	1.0	1.0	2	Q9NR77	1
Deep plantar creases	0.586981575677187	1.000794065159619	0.3169263793910155	1.0	1.0	5	P61978,Q9Y487	2
Chromosomal breakage induced by ionizing radiation	0.6464693942320905	1.000066611851895	0.3172782727004426	1.0	1.0	4	Q969G3,Q99496	2
Abnormality of circulating glucocorticoid level	0.4714973533564094	0.9976305071798888	0.318458562194212	1.0	1.0	13	Q13423,P17252	2
Abnormal glomerular mesangium morphology	0.4465829663596172	0.9960783507319212	0.3192120778311262	1.0	1.0	16	Q8NFH4,P00813,Q14C86,Q8N1F7,Q12769	5
External ophthalmoplegia	0.434160857644678	0.9959766847530164	0.3192614736588872	1.0	1.0	21	P00403,Q5U5X0,P03915	3
Limb pain	0.5063460740208319	0.9959509224363304	0.3192739914325697	1.0	1.0	10	P00846,O75477	2
Osteolytic defects of the distal phalanges of the hand	0.6452942941864539	0.9954099861304144	0.3195369037023798	1.0	1.0	4	O75431,O75844	2
Central hypoventilation	0.5584858070891511	0.99309564615321	0.3206633455455616	1.0	1.0	7	Q8N183	1
Fever	0.3172949472319183	0.9923821976413266	0.3210111198208509	1.0	1.0	84	P28070,P00813,Q9NR77,P00403,P23786,P00846,P03915	7
Round face	0.436682499010184	0.9923529054454956	0.3210254037218003	1.0	1.0	17	P02545,Q03164,Q32P28	3
Abnormal sharpey fiber morphology	0.5839903915450664	0.9903001646391056	0.3220274261378306	1.0	1.0	6	P02545,P53680	2
Abnormal nephron morphology	0.4171913591673851	0.989395180324914	0.3224698317122223	1.0	1.0	58	Q8NFH4,O75431,Q9Y276,P00813,P23786,P00403,P00846,P02545,Q14108,Q14C86,Q8N1F7,P03915,Q03252,Q12769	14
Papillary thyroid carcinoma	0.5181181086072835	0.98845566694931	0.3229295362415152	1.0	1.0	9	Q92785,Q969G3,Q8TAQ2	3
Ventricular arrhythmia	0.4487126194145544	0.987740901002036	0.3232795577761393	1.0	1.0	36	P23786,P00403,P00846,P42892,P03915,O43772	6
Elevated hemoglobin a1c	0.583629403388237	0.9864609288716784	0.3239069789984494	1.0	1.0	5	O75431	1
Increased circulating antibody level	0.4356224515301209	0.985548553172258	0.3243546944277333	1.0	1.0	17	P00813	1
Adducted thumb	0.4343018752405848	0.983491885286904	0.3253654071551646	1.0	1.0	22	P42892	1
Rib segmentation abnormalities	0.7389885807504027	0.9818956931110988	0.3261512377835656	1.0	1.0	3	O96028,Q9H3P2	2
Hypoplastic pubic rami	0.7389885807504027	0.9818956931110988	0.3261512377835656	1.0	1.0	3	O96028,Q9H3P2	2
Abnormality of abdominal situs	0.7389885807504027	0.9818956931110988	0.3261512377835656	1.0	1.0	3	O96028,Q9H3P2	2
Aplasia hypoplasia of the pubic bone	0.7389885807504027	0.9818956931110988	0.3261512377835656	1.0	1.0	3	O96028,Q9H3P2	2
Abnormal sternal ossification	0.7389885807504026	0.9818956931110974	0.3261512377835662	1.0	1.0	3	O96028,Q9Y619	2
Abnormal coronary artery morphology	0.5816176964891755	0.9800446676060472	0.3270640703597827	1.0	1.0	6	P02545,P34913	2
Abnormal form of the vertebral bodies	0.3137155484124457	0.9797718360618894	0.3271987572976371	1.0	1.0	81	P48735,P00813,P54802,P46100,O95831,Q32P28,Q96AY3,Q96HY6,Q10713	9
Retinal dysplasia	0.5161607658127739	0.9785851755398434	0.3277849870191192	1.0	1.0	9	Q10713	1
Abnormal tricuspid valve physiology	0.4246998190548326	0.9782317835968992	0.3279597000547563	1.0	1.0	18	Q15233,O75431,Q15904,P36543,P46100	5
Tented upper lip vermilion	0.4310192518863657	0.9748793006020678	0.3296201349049781	1.0	1.0	21	Q4J6C6,Q9UGU0,P46100,Q00577,Q96F07	5
Synostosis of metacarpals metatarsals	0.7367307809950998	0.9736135695629132	0.3302484461876043	1.0	1.0	3	Q15233	1
Urinary bladder sphincter dysfunction	0.5148306359170347	0.971880430995589	0.3311100361897341	1.0	1.0	9	P10809,P22626,Q9NR77	3
Lymphangioma	0.9403131115459852	0.969797566201638	0.3321474062345304	1.0	1.0	2	P48735	1
Hemangiomatosis	0.9403131115459852	0.969797566201638	0.3321474062345304	1.0	1.0	2	P48735	1
Visceral angiomatosis	0.9403131115459852	0.969797566201638	0.3321474062345304	1.0	1.0	2	P48735	1
Venous thrombosis	0.4665130017368309	0.9692117352288442	0.3324395570961564	1.0	1.0	13	P48735	1
Extrapyramidal muscular rigidity	0.5792939431273209	0.9679494233998316	0.333069629398012	1.0	1.0	5	Q9H6K4	1
Myotonia	0.5527773685237399	0.9668712427705416	0.3336084041399316	1.0	1.0	7	P02545,Q00577,P50402	3
Unconjugated hyperbilirubinemia	0.7343864989125384	0.965023546214284	0.3345330182673494	1.0	1.0	3	Q9NSD9	1
Broad ribs	0.6371804795628195	0.9633151828431354	0.3353893762179676	1.0	1.0	4	P48651	1
Abnormal renal cortex morphology	0.4343808185606931	0.959119238651742	0.3374986795497428	1.0	1.0	49	Q8NFH4,O75431,P00813,P00403,P00846,P02545,Q16134,Q14108,Q14C86,Q8N1F7,P03915,Q03252,Q12769	13
Myoclonus	0.3198933628084192	0.9556385562746232	0.3392548749916853	1.0	1.0	90	P07602,Q96CU9,O14936,P00403,Q96F07,P03915,P00846,Q00577,Q01105,Q8NI60,Q969G3,Q9UBX3,Q10713,Q03252	14
Inappropriate behavior	0.4483530039411277	0.9538959239256232	0.3401363269390898	1.0	1.0	15	P07602	1
Insulin resistance	0.4395072747428959	0.952116812462699	0.341037743431803	1.0	1.0	16	P02545,O75431,Q03252,O75844	4
Decreased light and dark adapted electroretinogram amplitude	0.7298531810766549	0.948440523944094	0.3429052375858323	1.0	1.0	3	Q15067,O43837	2
Hyperconvex fingernails	0.5742717204000474	0.9465457801070416	0.3438702837372842	1.0	1.0	5	O96028,P48651	2
Excessive salivation	0.4348459589590558	0.9415429417162932	0.346426694134057	1.0	1.0	26	Q15233,P55795,Q9NR77,P15586,P46100,Q03252	6
Severe muscular hypotonia	0.4394219341944778	0.94115679405042	0.3466245143682442	1.0	1.0	30	P06753,Q8TD16,O95831,P02545,Q00577,Q01105,Q9NWM8,O75381,P56589	9
Peripheral axonal neuropathy	0.4243343112893553	0.9395068459179152	0.3474705790392387	1.0	1.0	53	P22626,Q8IV08,P07602,Q9BPX6,P00403,O95831,P00846,Q15067,P03915	9
Lung adenocarcinoma	0.7272430668841765	0.9389102324918358	0.3477768351397508	1.0	1.0	3	P30154,P04637	2
Abnormal circulating lipid concentration	0.3538206010416955	0.9382125204015952	0.3481352053130317	1.0	1.0	73	O75431,P34913,Q15904,P22830,O43772,Q03252,P28070,O75844,P37268,O75381,P56589,Q15392,P50402,P23786,P02545,Q8N511,P07602,Q92734,Q16836	19
Abnormality of circulating leptin level	0.7259482803452177	0.9341875410618852	0.3502071613221789	1.0	1.0	3	O75844	1
Erythema	0.4179157558285472	0.9333049739408492	0.3506625277588941	1.0	1.0	18	P53701,P00403,P22830,Q06136,P03915,P51648,Q07954	7
Pneumothorax	0.6293900376711857	0.932605730995178	0.3510235732785003	1.0	1.0	4	Q6NUK1,P36543	2
Upper limb amyotrophy	0.4362143059907148	0.9317021143052494	0.3514904935088139	1.0	1.0	16	P31483,Q9NR77,Q9BQT8,P07196,Q9Y6X9	5
Disproportionate short limb short stature	0.4265347500753401	0.9273362131221908	0.3537519978421635	1.0	1.0	17	Q15392,Q7LGA3,Q03164,Q14696,Q32P28,O75718	6
Decreased adipose tissue	0.4439319455181997	0.9273066084990488	0.3537673641403867	1.0	1.0	15	O75431,O75844,P36543,P02545,Q03252	5
Abnormality of the pubic bone	0.5694595587423079	0.926082048780155	0.3544033422185126	1.0	1.0	5	O96028,Q8IZA0,Q9H3P2	3
Abnormality of the alveolar ridges	0.5433101466419822	0.9234819535583668	0.3557561006628245	1.0	1.0	7	Q15392	1
Neonatal hypoglycemia	0.4923130387057808	0.9230990446427744	0.3559555924595252	1.0	1.0	10	O43772	1
Abnormality of metacarpal epiphyses	0.6263579319704395	0.92068470693281	0.3572150628466064	1.0	1.0	4	O96028,P16435	2
Impaired pain sensation	0.4179785013908147	0.9175782454040068	0.3588397114625528	1.0	1.0	19	O95831,Q9NR77	2
Dyspnea	0.3185015325535736	0.9127788230353628	0.3613588782010084	1.0	1.0	92	P07602,P23786,P50995,O75844,Q92734,P35637,Q96CV9,P46100,Q6UN15,O95831,P00846,P02545,Q16134,Q92804,P09651,Q15165,P03915,Q8TCJ2	18
Glucose intolerance	0.3243408723031882	0.91083453689869	0.3623825621084595	1.0	1.0	99	O75431,Q86Y39,O75844,P00403,Q06136,O96000,Q8N183,O43676,Q13217,P00846,P02545,Q969M3,P17252,Q9Y6M9,P03915,Q03252,Q96CU9	17
Pseudoarthrosis	0.5657083602148658	0.9101632328719866	0.3627364310644383	1.0	1.0	5	P98172,O75844	2
Cutaneous cyst	0.7192257394780469	0.9097226245701068	0.3629688094128847	1.0	1.0	3	Q8TAA9	1
Gowers sign	0.4399514466815558	0.9034165360390606	0.366304867012547	1.0	1.0	15	P06753,Q8TD16,Q8NAT1,P07196,Q9BUK6,Q9Y5P6	6
Morphological abnormality of the pyramidal tract	0.4221792944824399	0.901953548215134	0.3670815440156452	1.0	1.0	22	P00846,O95831	2
Abnormal thalamic mri signal intensity	0.5623846697336862	0.897241742201525	0.3695899357041265	1.0	1.0	6	Q969G3,Q9GZY8,Q99496	3
Abnormality of circulating enzyme level	0.3173514033312076	0.8970323119820327	0.3697016753781785	1.0	1.0	92	Q5JTV8,P06753,Q5JRX3,P07196,Q08J23,O43772,O95831,Q8NAT1,Q86U42,P22626,P23786,P50402,Q9Y584,P02545,P53985,Q9BUK6,O14979,Q9BTV4,Q9BPX6,Q92734,Q96BR5,Q16836,Q9H173,Q9NWM8,P09651	25
Hip contracture	0.4740820626346583	0.896884472667439	0.3697805664008391	1.0	1.0	11	Q7LGA3,Q96AY3,P06753	3
Abnormal tissue metabolite concentration	0.4384950291087746	0.8946884300438591	0.3709536652746799	1.0	1.0	15	Q9Y276,P07602,P40855,O75381,P56589	5
Diaphyseal thickening	0.7150488246108907	0.8945710897850584	0.3710164119348764	1.0	1.0	3	P48651	1
Abnormal circulating follicle stimulating hormone concentration	0.5361565652169973	0.8908002391402566	0.3730363468496449	1.0	1.0	7	Q969G3	1
Acidemia	0.4525058629480549	0.8896648779550135	0.3736458583006223	1.0	1.0	13	P48735	1
Proximal amyotrophy	0.4375487722667683	0.8890216139693302	0.3739914638632364	1.0	1.0	15	Q9BTV4,P50402,Q92734,P35637,P02545,P07196,O14979	7
Axonal degeneration regeneration	0.6179672493656128	0.8877975343745899	0.3746496694588095	1.0	1.0	4	P02545	1
Abnormal circulating igg level	0.4363455617405039	0.8818206591210285	0.3778737978708619	1.0	1.0	15	P00813	1
Hyperventilation	0.507435628615897	0.8742532252497643	0.3819803660559837	1.0	1.0	8	P00846	1
Aplasia hypoplasia of the lungs	0.4276159309877096	0.8736353898708723	0.3823168469476774	1.0	1.0	28	O95202,Q7Z4L5,O75844,O96028,P41227,O96000,Q9H3P2,P18583,Q92917,Q99567,Q16134,P02545,Q8TAA9,P98175,Q14739,Q6NUK1	16
Severe short stature	0.4131045749733104	0.8698713506015096	0.384370713605159	1.0	1.0	20	Q15392,P53701,P10619,Q9H173,P16278,Q96HY6,P48651	7
Undetectable electroretinogram	0.6133531255598482	0.8697816536654978	0.3844197393804265	1.0	1.0	4	O43924,O14773	2
Distal upper limb amyotrophy	0.4486431433449764	0.8678317022605975	0.3854864722008664	1.0	1.0	13	Q9NR77	1
Male pseudohermaphroditism	0.7075213012557939	0.867368282672846	0.3857402544601416	1.0	1.0	3	P46100	1
Limb muscle weakness	0.3163120428644657	0.8596080494930309	0.3900051363396197	1.0	1.0	79	P50336,Q8TB36,P06753,Q13126,P07196,Q15067,Q9Y5P6,Q9NR77,P00846,Q86U42,Q14739,P35670,P10809,P50402,P02545,Q969G3,Q9Y6X9,P31483,Q9BTV4,Q92734,Q96BR5,Q9Y4W6,Q9BQT8,P36551	24
Distal lower limb muscle weakness	0.4090102048156949	0.8582935404114034	0.390730395422965	1.0	1.0	19	Q9NR77,P06753,P00846,P02545,P07196,Q9Y5P6	6
Abnormality of the nasal bone	0.6103995349562823	0.8582771917305269	0.3907394206979797	1.0	1.0	4	Q6NUK1,O14974	2
Astrocytoma	0.5033056273909445	0.8541930811075377	0.3929980161627555	1.0	1.0	8	O75874,P48735	2
Large placenta	0.7029191577945102	0.8508067410530739	0.394876716402349	1.0	1.0	3	O75844	1
Abnormal fallopian tube morphology	0.5514482789011942	0.8499539451433338	0.3953506918547314	1.0	1.0	5	P49959,P04637,P53701	3
Poor appetite	0.4517160798813818	0.8489704638394049	0.3958977276533331	1.0	1.0	12	Q70HW3	1
Neoplasm of the thyroid gland	0.4142361392871919	0.8488367597452426	0.3959721323510896	1.0	1.0	22	Q8TAQ2,Q92785,P02545,P21912,P42892,Q969G3,P20585	7
Abnormality of neutrophil morphology	0.5510240014399126	0.8486797944945221	0.3960594923752396	1.0	1.0	6	Q14739,P41440	2
Abnormality of somatosensory evoked potentials	0.7017944535073277	0.8467677685508687	0.3971245769223941	1.0	1.0	3	Q9Y6X9,P20700	2
Tetraplegia	0.4445986069416847	0.8450288932980136	0.3980947072251173	1.0	1.0	13	Q13423,P51572,O95831	3
Punctate cataract	0.6065034907917737	0.8431369315243407	0.399151865979737	1.0	1.0	4	P08670	1
Paresthesia	0.4146241620081656	0.83832324130055	0.4018491863195861	1.0	1.0	23	P54802,Q9NR77	2
Ovarian cyst	0.4432061453086108	0.8371931263783501	0.4024840205128273	1.0	1.0	13	P78549,P16435,P02545,P21912,P20585,Q03252	6
Sclerocornea	0.4996908666307466	0.8366696821096881	0.4027782653269036	1.0	1.0	8	O95202,P53701,O96028,Q9H3P2,O75569,P49454	6
Iron deficiency anemia	0.5228743037070988	0.8304188892697744	0.406301989459211	1.0	1.0	7	P46100	1
Abnormal endocrine physiology	0.546088631213801	0.827683956296002	0.4078495074447437	1.0	1.0	6	Q13423,P16435	2
Tremor by anatomical site	0.4161097599472947	0.8244594423405692	0.409678551600152	1.0	1.0	25	Q9NR77,Q92734,P35637,Q9Y4W6,Q96KR1,P07196,P20700	7
Exercise intolerance	0.4225963618026586	0.823594724625407	0.4101698744431075	1.0	1.0	30	P23786,P00403,Q8NI60,Q9Y2R0,P03915	5
Glioma	0.4469117764206229	0.822657525801972	0.4107027755027668	1.0	1.0	12	O75874,P48735	2
Lower limb amyotrophy	0.4031811201413475	0.8199644685004841	0.4122363630051731	1.0	1.0	19	Q9NR77,P06753,Q92734,Q8TD16,P02545,P07196,Q9Y6X9	7
Elevated pulmonary artery pressure	0.4077804687528335	0.8199029748369624	0.4122714207702107	1.0	1.0	21	O75844,P00403,O96000,P02545,Q8IZA0,P03915	6
Abnormal circulating bilirubin concentration	0.4170000285189285	0.819756824854949	0.4123547485082333	1.0	1.0	26	P55263,O14936,P23786,P41440,P40855,P36551,Q14739,Q9NSD9,P28288	9
Calvarial skull defect	0.5437342208623421	0.8176918578616599	0.4135331608478574	1.0	1.0	6	O96028,Q14739,Q9H3P2	3
Abnormal epiphyseal ossification	0.4255705906415769	0.8175971692250269	0.4135872444680888	1.0	1.0	15	Q96HY6,O75381	2
Abnormal talus morphology	0.409117346985653	0.8166056063796643	0.4141538501553357	1.0	1.0	17	O75844,Q99567,P16435,P02545,P98175,Q9UPT5	6
Increased circulating acth level	0.5434133755627433	0.8162762975963079	0.4143421275904355	1.0	1.0	5	P46100,P16435	2
Abnormal brainstem mri signal intensity	0.4090926765857943	0.8146105626851085	0.4152952623581898	1.0	1.0	22	Q86Y39,O96000,O43676,O95831,Q9Y6M9,Q96CU9	6
Chordee	0.5424743555681446	0.8123516575524926	0.4165898769760594	1.0	1.0	6	P48651,P16435,O14974	3
Heterotaxy	0.5984932209388796	0.8121430867978849	0.4167095321534138	1.0	1.0	4	O96028,Q9H3P2	2
Ventricular tachycardia	0.4312425726005832	0.8079738143461452	0.4191056565569664	1.0	1.0	14	O43772	1
Macrovesicular hepatic steatosis	0.5176207137024504	0.8066644175583783	0.4198598496205883	1.0	1.0	7	P23786	1
Stiff skin	0.8904109589041083	0.8057610480541225	0.420380641665588	1.0	1.0	2	O75844	1
Severe failure to thrive	0.8904109589041083	0.8057610480541225	0.420380641665588	1.0	1.0	2	O75844	1
Abnormal sweat gland morphology	0.8904109589041083	0.8057610480541225	0.420380641665588	1.0	1.0	2	O75844	1
Patchy alopecia	0.8904109589041083	0.8057610480541225	0.420380641665588	1.0	1.0	2	O75844	1
Epidermal hyperkeratosis	0.8904109589041083	0.8057610480541225	0.420380641665588	1.0	1.0	2	O75844	1
Aplasia hypoplasia of the colon	0.8904109589041083	0.8057610480541225	0.420380641665588	1.0	1.0	2	O75844	1
Prominent umbilicus	0.8904109589041083	0.8057610480541225	0.420380641665588	1.0	1.0	2	O75844	1
Xanthomatosis	0.8904109589041074	0.8057610480541202	0.4203806416655893	1.0	1.0	2	P34913	1
Transposition of the great arteries	0.5967875861781486	0.8055683876790621	0.4204917593380521	1.0	1.0	4	O75844	1
Fatty replacement of skeletal muscle	0.5173083312107449	0.805254541554122	0.4206728083266857	1.0	1.0	7	P22626,P09651	2
Choanal stenosis	0.6898677300082539	0.8041557202740635	0.4213070479110883	1.0	1.0	3	P48651	1
Gaze evoked nystagmus	0.48050353579417	0.8000596831650341	0.4236762185748195	1.0	1.0	9	Q10713	1
Infantile spasms	0.4166575341036894	0.7983550716912596	0.4246644677590223	1.0	1.0	28	P00846,Q9UBX3	2
Hypoplastic vertebral bodies	0.538326400930547	0.7948039044883677	0.4267275794112053	1.0	1.0	6	Q14739,P16278	2
Abnormal paranasal sinus morphology	0.409889463485768	0.7942727107655496	0.4270366871430822	1.0	1.0	24	P28070,P00813,P46100	3
Abnormal blood transition element cation concentration	0.4540596017213301	0.7907304753180439	0.4291012883251803	1.0	1.0	11	Q15904,Q9Y276,P35670,P28288	4
Agitation	0.4200816139284684	0.7888664619891874	0.4301900594472143	1.0	1.0	33	P50995,Q96CV9,P35637,Q92804,P42892,Q15165,P09651	7
Abnormal magnesium concentration	0.5363768643616725	0.7865753251271502	0.4315305084063234	1.0	1.0	6	P61457,P05023,P53680	3
Thick corpus callosum	0.6847627822386143	0.7860471442448846	0.4318398681346467	1.0	1.0	3	Q15233	1
Axonal loss	0.535402539022507	0.7824675935610335	0.43393982313634	1.0	1.0	6	P41440	1
Abnormal thalamic size	0.6835895442014046	0.7818971562115657	0.4342750164277413	1.0	1.0	3	Q9UPT5	1
Abnormal gastrointestinal motility	0.4061535297124399	0.781852749253712	0.4343011165654902	1.0	1.0	23	Q9NSE4,P00403,P35637,P61978,P03915	5
Abnormal motor nerve conduction velocity	0.3995277202925545	0.7804052078004783	0.4351524034783276	1.0	1.0	20	Q9NR77	1
Abnormal left ventricle morphology	0.4091033959855556	0.7773356093288842	0.4369607912207582	1.0	1.0	25	P00403,O75431,P03915	3
Heart block	0.4072043536000602	0.7763455577106981	0.4375449805162423	1.0	1.0	24	Q9BTV4,P23786,P50402,P36543,P02545,O43772	6
Long thorax	0.6819041164166675	0.7759433765176229	0.437782419633892	1.0	1.0	3	P17252	1
Retinal vascular tortuosity	0.4184455192374845	0.775433285344445	0.4380836730818802	1.0	1.0	15	P00846,P49454,P03915	3
Abnormality of the supraorbital ridges	0.402789274492785	0.7728810560130933	0.4395927770875414	1.0	1.0	22	P38159,P98175,P40855,O75381,P56589,Q08J23	6
Short lingual frenulum	0.6808692763672177	0.7722924966537299	0.4399412084519971	1.0	1.0	3	O75844	1
Overtubulated long bones	0.6808692763672177	0.7722924966537299	0.4399412084519971	1.0	1.0	3	O75844	1
Retinal pigment epithelial atrophy	0.5879174037191671	0.7715290707018652	0.4403933980893009	1.0	1.0	4	P51648	1
Insulin resistant diabetes mellitus	0.4860936203596042	0.7710895142030437	0.4406538754351081	1.0	1.0	8	O75431,O75844	2
Hemiplegia hemiparesis	0.4157908363856051	0.7697206485470084	0.4414656188579204	1.0	1.0	31	P00403,P03915	2
Abnormal biliary tract morphology	0.3999023589016742	0.767983460886715	0.4424970108859769	1.0	1.0	21	Q9Y276,P07602,Q5XKP0,P02545,Q14108,Q14739,Q9NSD9,Q10713	8
Aplasia hypoplasia of the clavicles	0.4367987871085846	0.7675997103853273	0.4427250345221023	1.0	1.0	12	O75431,O75844,P41227,P98172,P02545,P48651	6
Abnormal nasolacrimal system morphology	0.4617160770235696	0.7659583422709326	0.4437010895370907	1.0	1.0	10	Q13428,Q9UQE7,P48651,P53701	4
Abnormal jejunum morphology	0.8770384866275276	0.7629905800052846	0.4454690137846602	1.0	1.0	2	O14974	1
Extra axial cerebrospinal fluid accumulation	0.8767123287671208	0.7619548181943406	0.4460869707405543	1.0	1.0	2	Q03252	1
Vertebral hypoplasia	0.4606158618523087	0.7603699138216082	0.4470335018911373	1.0	1.0	10	Q14739,Q96HY6,P16278	3
Decreased activity of mitochondrial complex i	0.4161574352948073	0.7570073814297883	0.4490454402067814	1.0	1.0	34	Q86Y39,Q70HW3,O96000,O43676,Q9Y584,Q9Y6M9,Q9UBX3,Q96CU9	8
Epiretinal membrane	0.6763756811634399	0.7564817320819324	0.4493604210531265	1.0	1.0	3	P04439	1
Bile duct proliferation	0.6759185575863664	0.7548772872283745	0.4503226148965313	1.0	1.0	3	Q9NSD9	1
Myopathy	0.3065612654808464	0.7501022994316395	0.4531930947410654	1.0	1.0	92	P22626,Q86Y39,P23786,P00403,P50402,O43676,Q13126,P00846,P02545,P17252,Q9NWM8,P09651,P49454,P03915,Q9BUK6,O14979,Q03252	17
Biliary tract abnormality	0.4009488426196901	0.7473879018368678	0.4548294460440303	1.0	1.0	23	Q9Y276,P07602,O96028,Q5XKP0,P02545,Q14108,Q14739,Q9NSD9,Q10713	9
Abnormal choroid morphology	0.4077157620758597	0.7469070568072163	0.455119665969625	1.0	1.0	27	P04439,Q9Y619,O14936,P53701,P41227,O60826,Q8NAT1,P40855,O75381,P56589,Q10713	11
Agenesis of incisor	0.6734094616639383	0.7460840015750679	0.4556166729924771	1.0	1.0	3	P41227,Q12959	2
Reduced subcutaneous adipose tissue	0.4695523125365688	0.7459724960531771	0.4556840297805955	1.0	1.0	9	P02545,O75844,P36543	3
Areflexia of lower limbs	0.3941380241321799	0.7452086477154733	0.4561455958678702	1.0	1.0	20	Q9H6K4,Q15067,Q13217,Q9NR77	4
Supernumerary nipple	0.4571201147805804	0.7426496965247155	0.457693792363667	1.0	1.0	10	Q7LGA3,P61978	2
Protruding tongue	0.4568204752830306	0.7411334332228251	0.4586125398277838	1.0	1.0	10	P20700,P46100,Q10713	3
Abnormal circulating proteinogenic amino acid derivative concentration	0.3955943229617968	0.7397708312497213	0.4594390608058289	1.0	1.0	21	P00846,O96000,P03915,P22695	4
Retinal detachment	0.4123265667351483	0.7394557641468166	0.4596302914712291	1.0	1.0	15	P04439,Q14118,Q99496,P35222,Q14331,O75533,Q8NAT1,Q9Y5P6	8
Diffuse cerebral atrophy	0.412266592100427	0.7391043004500909	0.4598436657043048	1.0	1.0	15	Q10713	1
Gastrostomy tube feeding in infancy	0.40891895582031	0.7370539045938637	0.4610895693194199	1.0	1.0	29	P37268,P35637,O15121,Q01105,P17480	5
Lymphopenia	0.4072339087949324	0.7342334084832177	0.4628064953421607	1.0	1.0	28	P00813	1
Increased bone mineral density	0.4001395662869526	0.7294229129854961	0.4657430061133856	1.0	1.0	24	Q15392,Q15043,P54802,Q13126,P02545,P48651	6
Progressive neurologic deterioration	0.3913742822007315	0.7272440743717603	0.4670764509605409	1.0	1.0	20	P07602,Q10713	2
Abdominal pain	0.3112377261541719	0.7252835996377998	0.4682780649524143	1.0	1.0	78	Q13423,P23786,Q70HW3,P35637,P42892	5
Lacrimal duct stenosis	0.8649706457925617	0.7249185741523658	0.4685019852167875	1.0	1.0	2	P48651	1
Steppage gait	0.3909437261282895	0.7244508631846455	0.4687889831995637	1.0	1.0	20	P31483,Q9NR77,Q96BR5,P02545,P07196	5
Contractures of the joints of the lower limbs	0.396941885475546	0.7227346986002705	0.4698428933926812	1.0	1.0	54	Q5JTV8,Q9BTV4,P06753,P37268,P50402,P23786,Q7LGA3,P35637,Q8TD16,P02545,Q8IZA0,O75477,Q96AY3,Q86XL3,Q08J23,P48651	16
Abnormality of the intervertebral disk	0.5199962483172628	0.7194166066209271	0.4718842677619661	1.0	1.0	5	P02545,Q8WUM0,P57740	3
Anhidrosis	0.5199512696404993	0.7177841971152826	0.4728903587093231	1.0	1.0	6	P20700,Q9Y276,Q9H4A3	3
Hepatoblastoma	0.4519429500044871	0.7165134140676197	0.47367438768027	1.0	1.0	10	Q92785,Q969G3,Q8TAQ2	3
Epiphora	0.5731390838074544	0.7154491188463566	0.4743315704265254	1.0	1.0	4	Q15043	1
Abnormal clavicle morphology	0.3894591233331801	0.7148312211443442	0.4747133406129094	1.0	1.0	20	O75431,Q9Y5S9,O75844,P41227,P98172,P02545,Q96AY3,Q14739,P48651	9
Delayed menarche	0.5191238162682018	0.7143467150082483	0.4750128123487558	1.0	1.0	6	O75844	1
Asymmetric septal hypertrophy	0.8610567514677024	0.712686211158369	0.4760399508683586	1.0	1.0	2	P54802	1
Abnormal circulating carbohydrate concentration	0.4108284940667674	0.7101087671533498	0.4776366900352971	1.0	1.0	39	Q86Y39,Q70HW3,Q5JRX3,O96000,O43676,Q9BWD1,O95831,P22695,Q9Y6M9,Q96CU9	10
Cervical ribs	0.6629581941781182	0.7097102862952884	0.4778838120838056	1.0	1.0	3	Q9Y5S9	1
Pain	0.3637240426528865	0.7066767122787955	0.4797674046783051	1.0	1.0	171	O14936,Q70HW3,P21964,Q96CV9,Q15043,O75477,Q14108,P42892,Q03252,Q9H6K4,P28070,Q9NR77,O75844,P00846,Q92804,O75874,Q15165,Q13423,P48735,P22626,P23786,P50402,P02545,Q969G3,Q96HY6,Q9BUK6,Q8NFH4,P07602,P50995,Q6UN15,P35637,P46100,P20700,P09651	34
Atrial arrhythmia	0.4947243312922716	0.7042355208001743	0.4812861136108946	1.0	1.0	7	P02545,P50402	2
Pituitary hypothyroidism	0.5166419314585787	0.7040538460909942	0.4813992412300809	1.0	1.0	6	O00170,Q969G3,Q99496	3
Dilated cardiomyopathy	0.4090615295916291	0.7033391442413887	0.4818444216865525	1.0	1.0	35	Q9BTV4,P23786,P00403,P06753,Q16836,P00846,P02545,P16278,P03915	9
Meningioma	0.4941999188690939	0.7019140414503999	0.482732771646283	1.0	1.0	7	P02545,Q969G3,P21912,P78549	4
Elevated circulating long chain fatty acid concentration	0.8574690150032516	0.7015252562983593	0.4829752785779133	1.0	1.0	2	P23786	1
Multicystic kidney dysplasia	0.3983741370148359	0.7005128468229538	0.4836070850664813	1.0	1.0	16	Q10713,O75381	2
Pain in head and neck region	0.4920663527650644	0.6924820246082382	0.4886346705228943	1.0	1.0	7	Q969G3	1
Retinal thinning	0.8542074363992171	0.6914232643653512	0.4892995882486504	1.0	1.0	2	P51648	1
Aplasia hypoplasia involving the vertebral column	0.4036818257574692	0.6890545852295932	0.490788917886749	1.0	1.0	15	O95831	1
Widow s peak	0.5660367377448488	0.6888146517878524	0.4909399140987789	1.0	1.0	4	P98172	1
Optic nerve hypoplasia	0.3803593438947967	0.6885643345906318	0.4910974716725906	1.0	1.0	18	O14936,P37268,P61978,P49454,P07196,Q8N3U4	6
Pili torti	0.8532289628180008	0.6884010540432577	0.4912002602577392	1.0	1.0	2	P02545	1
Muscular dystrophy	0.4000834460321245	0.6860528099733006	0.4926798072323075	1.0	1.0	28	Q5JTV8,P22626,Q9BTV4,P50402,Q9H173,P02545,Q8NAT1,P09651,O14979	9
Hypoplastic fifth toenail	0.4680967772576899	0.6853272332665495	0.4931374505182933	1.0	1.0	8	Q92785,Q969G3,Q8TAQ2	3
Enchondroma	0.4568396126039793	0.6838349401160597	0.494079400531799	1.0	1.0	9	O75874,P48735	2
Abnormality of tibia morphology	0.4211981458378308	0.6837516002412161	0.4941320338399038	1.0	1.0	12	O95831	1
Progressive visual loss	0.390489741542858	0.6787767838817749	0.497279306017564	1.0	1.0	23	P00846,P03915	2
Mildly elevated creatine kinase	0.3837533391372946	0.6780375524430855	0.4977478835328957	1.0	1.0	20	Q9BPX6,Q92734,Q16836,P02545,P09651,Q9BUK6	6
Elbow ankylosis	0.849641226353552	0.6773533508108082	0.4981817885833646	1.0	1.0	2	P48651	1
Humeroradial synostosis	0.849641226353552	0.6773533508108082	0.4981817885833646	1.0	1.0	2	P48651	1
Cardiovascular calcification	0.4663980882683178	0.6773067694218619	0.4982113367507543	1.0	1.0	8	O75431,O75844	2
Urinary glycosaminoglycan excretion	0.4885730485536113	0.6770850003944653	0.4983520252098863	1.0	1.0	7	P54802,P15586	2
Tetraplegia tetraparesis	0.401921532547652	0.6761654757681155	0.4989355894836964	1.0	1.0	47	Q5U5X0,Q13423,P07602,Q92734,P35637,O95831,P00846,P51572,Q9UBX3	9
Persistent head lag	0.488195044153494	0.6754224486525202	0.4994074070665948	1.0	1.0	7	Q15233,Q9NSD9	2
Abnormal number of incisors	0.5089232075247538	0.6722201498590946	0.5014435550251723	1.0	1.0	6	P41227,Q8N3U4	2
Accessory spleen	0.508047132242046	0.6686248360122766	0.5037348255535747	1.0	1.0	6	Q15904,P49454	2
Abnormal granulocytopoietic cell morphology	0.6508972267536646	0.6682849165610023	0.5039517396411601	1.0	1.0	3	Q07020,Q14980	2
Profound global developmental delay	0.4063433272049693	0.6663996718881677	0.5051556721731645	1.0	1.0	14	P37268,P56589,P46100,O75381	4
Spastic ataxia	0.4640522875817012	0.6662547796594176	0.5052482641854059	1.0	1.0	8	Q9NVV4,Q96GW9,Q86SX6,Q9Y4W6,Q15813,Q6PI48,Q9H3L0	7
Fasciculations	0.4037416098831284	0.6659425601774775	0.5054478154830471	1.0	1.0	35	P22626,P07602,Q92734,Q96CV9,P35637,O95831,Q9BQT8,P09651	8
Extramedullary hematopoiesis	0.5585792902679068	0.6610956594370527	0.508550968736365	1.0	1.0	4	P98175	1
Retinal dystrophy	0.3931504920360479	0.6601920951668945	0.5091305643856627	1.0	1.0	52	P10809,Q13868,P00846,Q8NAT1,P40855,O75381,Q15067,P56589,P03915,Q10713,Q6P4Q7	11
Enlarged ovaries	0.6484287951255867	0.6598852306048917	0.5093274828213619	1.0	1.0	3	P16435	1
Inferior lens subluxation	0.6482871125611742	0.659403953250121	0.5096364042206001	1.0	1.0	3	O75533,Q99496	2
Uveal melanoma	0.6482871125611742	0.659403953250121	0.5096364042206001	1.0	1.0	3	O75533,Q99496	2
Choroidal melanoma	0.6482871125611742	0.659403953250121	0.5096364042206001	1.0	1.0	3	O75533,Q99496	2
Lens subluxation	0.6482871125611742	0.659403953250121	0.5096364042206001	1.0	1.0	3	O75533,Q99496	2
Abnormal ciliary body morphology	0.6482871125611742	0.659403953250121	0.5096364042206001	1.0	1.0	3	O75533,Q99496	2
Metamorphopsia	0.6482871125611742	0.659403953250121	0.5096364042206001	1.0	1.0	3	O75533,Q99496	2
Mydriasis	0.6482871125611742	0.659403953250121	0.5096364042206001	1.0	1.0	3	O75533,Q99496	2
Photopsia	0.6482871125611742	0.659403953250121	0.5096364042206001	1.0	1.0	3	O75533,Q99496	2
Progressive muscle weakness	0.4109978531074543	0.6587763146317713	0.5100394190215072	1.0	1.0	13	O75381,P56589,P40855,P06753	4
Neoplasm of the endocrine system	0.4027316346808815	0.655701957270139	0.5120159092780072	1.0	1.0	36	P48735,P46100,P02545,P42892,Q969G3,O75874	6
Zonular cataract	0.439476040479934	0.654171982292778	0.5130010101401568	1.0	1.0	10	P08670	1
Distal muscle weakness	0.3693437165409884	0.6537535510620701	0.5132705961663933	1.0	1.0	62	P06753,P07196,Q9Y5P6,Q9NR77,O95831,Q8TD16,P00846,Q86U42,P22626,P02545,Q9Y6X9,Q9BX10,P31483,P41440,P35637,Q96BR5,Q9Y4W6,Q9BQT8,P36551,P09651	20
Arnold chiari type i malformation	0.5563655207872353	0.6529189289172997	0.5138085450859955	1.0	1.0	4	Q15233	1
Abnormality of the 5th toe	0.5039575124163717	0.6518922234699644	0.5144707019378236	1.0	1.0	6	O43924,Q14739,Q10713	3
Postaxial foot polydactyly	0.5039575124163717	0.6518922234699644	0.5144707019378236	1.0	1.0	6	O43924,Q14739,Q10713	3
Middle age onset	0.4501243220372406	0.6513481684930198	0.514821761008792	1.0	1.0	9	P07602,Q15126	2
Waddling gait	0.3897397670395597	0.649044702645432	0.516309482421581	1.0	1.0	25	Q4J6C6,P22626,Q9BTV4,P06753,P50402,Q8TD16,P02545,Q5T8D3,P07196,P09651,Q9Y5P6	11
Underdeveloped nasal alae	0.376562763097541	0.6478881990575645	0.5170572639269166	1.0	1.0	19	O75431,P55795,P61978,Q00577,Q08J23	5
Pancreatitis	0.3832803754461558	0.645663913809971	0.5184970355714555	1.0	1.0	22	P00403	1
Palpebral edema	0.501666046716408	0.6452887887992056	0.5187400566339089	1.0	1.0	5	O00170,Q14331	2
Abnormality of the larynx	0.4011446201454607	0.6436224965822647	0.5198202585367138	1.0	1.0	42	P07602,P21964,P50995,Q96HY6,Q96CV9,P35637,P16435,P02545,Q92804,Q15165,P09651	11
Abnormal macroscopic urine appearance	0.3811120355618866	0.6423931892183675	0.5206179207676798	1.0	1.0	17	Q8NFH4,O43707,Q9BW27,P23786,P36551,Q8WUM0,Q14C86,Q8N1F7,Q12769	9
Ectrodactyly	0.4016588227983467	0.6402564833348765	0.522005866965364	1.0	1.0	14	Q8TB36,Q9NR77,O96028,Q9H3P2,P07196,Q9Y6X9	6
Abnormality of the shoulder girdle musculature	0.3945233212894373	0.6399058411035675	0.5222338162382458	1.0	1.0	29	Q9BTV4,P07602,Q9Y487,P06753,P50402,Q8TD16,P02545,P07196,O14979,Q9Y5P6	10
Slowly progressive	0.3851238813785694	0.6393575733917259	0.5225903425248721	1.0	1.0	55	Q5JTV8,Q9BTV4,Q8IV08,Q9NR77,P50402,P41440,O14773,Q96BR5,Q92734,Q9Y4W6,O95831,P02545,Q9P0J0,P07196,Q9Y6X9,O14979	16
Limited elbow extension	0.4582751500559007	0.6391607722200252	0.5227183484355158	1.0	1.0	8	Q9H6K4,Q8WVM7	2
Abnormal response to endocrine stimulation test	0.5518985318108194	0.6364955422795926	0.5244534855315819	1.0	1.0	4	Q13423	1
Glomerular sclerosis	0.3952230293413123	0.6363375207715327	0.5245564544105528	1.0	1.0	30	Q8NFH4,O75431,P00403,Q14108,Q14C86,Q8N1F7,P03915,Q12769	8
Abnormal speech prosody	0.4575694846783993	0.6358639905123568	0.5248650749121855	1.0	1.0	8	P00846	1
Abnormal circulating igm level	0.3874714945312539	0.6356624901993865	0.5249964297217733	1.0	1.0	16	P00813	1
Abnormal morphology of the radius	0.4113111623968689	0.6314623029593136	0.52773829009252	1.0	1.0	12	Q32P28	1
Aspiration pneumonia	0.3886856836878191	0.6308100375130004	0.5281647395306959	1.0	1.0	26	P06753,Q92734,Q969G3,O95721,Q8TAQ2,Q92785,Q00577,O60220,P16278,P78318,Q8N3U4,P20700,Q6NUK1,O14497	14
Abnormality of upper limb joint	0.3088793016101925	0.6243773591014261	0.5323797904757233	1.0	1.0	106	P06753,P98172,P16278,P07196,P42892,Q9H6K4,Q15233,Q9NR77,O75844,P37268,Q03164,O95831,Q8IZA0,Q15392,P23786,P50402,Q7LGA3,P16435,P02545,Q96AY3,P48651,Q9BTV4,O96028,Q9H173,Q8WVM7	25
Ketoacidosis	0.4440038367678419	0.6219715799478247	0.5339605558021834	1.0	1.0	9	P53985	1
Abnormal circulating sulfur amino acid concentration	0.4531028552108019	0.6150642413157065	0.5385122960564805	1.0	1.0	8	P41440	1
Neoplasm of the adrenal gland	0.407313714781795	0.6105417235892553	0.5415030132581311	1.0	1.0	12	P48735	1
Increased intracranial pressure	0.3678417339565155	0.609410492283204	0.5422523849847227	1.0	1.0	18	P07602	1
Brain imaging abnormality	0.3946979869489985	0.607447886423458	0.5435537173259914	1.0	1.0	34	P07602,P00403,Q00577,Q969G3,P03915	5
Pterygium	0.4065144862453704	0.6063754525496606	0.5442654651881937	1.0	1.0	12	Q96AY3	1
Polymicrogyria	0.3017689996791951	0.6062046905332378	0.5443788384629871	1.0	1.0	78	Q01105,Q08J23,Q9Y5P6,P37268,Q8TD16,Q96EK5,Q8NAT1,P40855,O75381,P56589,Q10713,O00459,Q15392,P23786,P34897,Q96N66,P36543,O14974,O95721,Q16625	20
Sea blue histiocytosis	0.8258317025440234	0.6054711513985972	0.5448659873452255	1.0	1.0	2	O15118	1
Prominent sternum	0.8258317025440178	0.6054711513985802	0.5448659873452368	1.0	1.0	2	O95831	1
Limited hip movement	0.3947097995858215	0.6018314139791411	0.5472863621410831	1.0	1.0	14	O75844,P06753,Q7LGA3,P02545,Q96AY3	5
Intestinal hypoplasia	0.5422672467916284	0.6014496598357973	0.547540531235926	1.0	1.0	4	P02545,O75844	2
Congenital muscular dystrophy	0.8235485975211945	0.5987182317099498	0.5493607972880381	1.0	1.0	2	P02545	1
Short nail	0.5410652046228227	0.5971125120040739	0.5504322648407218	1.0	1.0	4	P02545,O75844	2
Impaired proprioception	0.394482228502463	0.5952695146837245	0.5516633301734233	1.0	1.0	37	P10809,Q8IV08,Q9NR77,P41440,P54802,P00846	6
Increased csf lactate	0.3833357195710673	0.59334698626856	0.5529489598282122	1.0	1.0	53	Q86Y39,Q8N183,P00403,O96000,O43676,O95831,P00846,Q8NI60,Q9Y6M9,P03915,Q96CU9	11
Enlarged thorax	0.3729095361626144	0.5926813049737827	0.5533944551592431	1.0	1.0	17	O75844,P41227,P02545,Q32P28,P17252	5
Periorbital edema	0.3769800454763586	0.5917327073237505	0.554029590931163	1.0	1.0	23	Q8NFH4,P28070,O43707,Q9BW27,O00170,Q14331,Q8WUM0,Q14C86,Q8N1F7,P35250,Q12769	11
Aplasia cutis congenita of scalp	0.4875547820190211	0.5894960002897859	0.5555285944465611	1.0	1.0	5	O96028,Q9H3P2	2
Short columella	0.8199608610567467	0.5881591798556395	0.5564254536593485	1.0	1.0	2	P49454	1
Aplasia hypoplasia of the tongue	0.5382926239347607	0.5871411594873513	0.55710890636758	1.0	1.0	4	Q03252	1
Microglossia	0.5382926239347607	0.5871411594873513	0.55710890636758	1.0	1.0	4	Q03252	1
Aplasia hypoplasia of the optic nerve	0.3760426468517582	0.5857705579647212	0.5580297114242145	1.0	1.0	23	O14936,P37268,P61978,P49454,P07196,Q8N3U4,O95721	7
Abnormality of pulmonary circulation	0.3773601327921531	0.5812283533427016	0.5610865607907662	1.0	1.0	24	O75844,P00403,O96000,P02545,Q8IZA0,P03915	6
Scanning speech	0.817351598173514	0.5805210288086979	0.56156330996884	1.0	1.0	2	O14773	1
Cerebral calcification	0.38977325127636	0.5792227229402761	0.5624389003848478	1.0	1.0	33	P00403,P23786	2
Dry skin	0.3896403372589291	0.5783257019714586	0.5630442450976212	1.0	1.0	33	P00813,Q2TAA5,P37268,Q06136,P11802,Q9NYB0,Q08J23	7
Caesarian section	0.535783099810547	0.5781558189475944	0.5631589241712742	1.0	1.0	4	Q96EY7	1
Hypokinesia	0.4125284526499238	0.5770158038229017	0.5639287795944332	1.0	1.0	11	Q9Y3D3,O95831,Q2TAA5,P06753	4
Aplasia of the uterus	0.485135222233921	0.5760711247602414	0.5645671078722214	1.0	1.0	6	O96028,Q9Y5S9	2
Abnormality of temperature regulation	0.3027126451002402	0.5755920410521327	0.5648909619292806	1.0	1.0	103	P00813,O14936,P00403,Q14C86,O43772,P28070,Q9NR77,P35610,P61978,P00846,P51572,Q8N3U4,P23786,Q8N1F7,P03915,Q8NFH4,P07602,Q2TAA5,Q6UN15,P20700	20
Median cleft palate	0.8150684931506815	0.5738665784318964	0.5660580909148933	1.0	1.0	2	Q8N3U4	1
Pancreatic islet cell hyperplasia	0.8150684931506753	0.5738665784318779	0.5660580909149058	1.0	1.0	2	P53985	1
Rod cone dystrophy	0.3913124116315913	0.5710994700479738	0.5679322178129222	1.0	1.0	38	P10809,P00846,O75381,Q15067,P03915	5
Hyporeflexia of lower limbs	0.4331354844770304	0.570424204928888	0.5683900164725935	1.0	1.0	9	Q9NR77	1
Abnormality of macular pigmentation	0.6215334420880873	0.5703196140990345	0.5684609400177845	1.0	1.0	3	P55265,P35221	2
Abnormality of the achilles tendon	0.3936669265264638	0.5658909433393182	0.5714679185804263	1.0	1.0	13	P50402,Q92734,Q8TD16,P02545,Q08J23	5
Dysmenorrhea	0.8095238095238027	0.5578205947058178	0.5769668980289491	1.0	1.0	2	P02545	1
Muscle spasm	0.3713515492068233	0.55750198168577	0.5771845055006701	1.0	1.0	57	Q9H6K4,Q9NR77,P23786,P50995,Q92734,Q96CV9,P35637,P53985,P00846,Q92804,Q15165	11
Abnormality of the tarsal bones	0.3669409226041733	0.5565060023826081	0.5778649922654786	1.0	1.0	21	O75844,Q99567,P16435,P02545,P98175,Q14739,Q9UPT5	7
Abnormal atrioventricular conduction	0.3798598800302185	0.5534895713222767	0.5799282197106961	1.0	1.0	15	P02545,O43772,P50402	3
Hypotension	0.3783300872209921	0.55289499083438	0.5803353176858734	1.0	1.0	27	Q13423,P07602,O43772	3
Prostate neoplasm	0.4756066868360336	0.543279428073739	0.5869374261638027	1.0	1.0	5	P49959,P04637	2
Somatic sensory dysfunction	0.2968539974435026	0.542178146240066	0.5876957886059189	1.0	1.0	99	Q9H6K4,P10809,Q8IV08,P07602,Q9NR77,P41440,Q9NSE4,Q92734,P54802,P61978,Q96BR5,O95831,P00846,P02545,Q13217,P17480,Q9BUK6	17
Short ribs	0.4370155536527159	0.5412287394106134	0.5883499307740958	1.0	1.0	8	Q14739,Q9Y619,Q96HY6	3
Recurrent fractures	0.3792733234300486	0.539501211299428	0.5895410613921903	1.0	1.0	29	Q13126,P48735,Q32P28,Q96AY3	4
Abnormal tongue physiology	0.3638995756710869	0.5389791717279047	0.5899012263129448	1.0	1.0	17	Q9BQT8,O95831	2
Unusual infection by anatomical site	0.3769566722696998	0.5373761144813263	0.5910078388366109	1.0	1.0	15	Q14739,Q8TAA9,O15460,P46100	4
Soft skin	0.4359574057831185	0.5364376223091181	0.5916561356545249	1.0	1.0	8	Q13126	1
Atrophy degeneration involving the corticospinal tracts	0.3877098935489952	0.5346440491052735	0.5928960178751721	1.0	1.0	13	P00846	1
Widened subarachnoid space	0.3766305571094644	0.5318548599502873	0.5948265233122805	1.0	1.0	28	P00403,P03915,Q2TAA5,O95831	4
Cystic hygroma	0.4541749441191051	0.5291766170889202	0.5966829358626122	1.0	1.0	7	Q14739,P61978	2
Oromotor apraxia	0.5215212954029552	0.5278579095671554	0.5975979602630277	1.0	1.0	4	Q8N3U4	1
Abnormality of the thyroid gland	0.2946691202032815	0.5245131651433309	0.5999216654745503	1.0	1.0	98	Q13423,P48735,P00813,P00403,P21964,P61978,Q13868,P02545,P42892,Q969G3,P20585,P03915,Q9BUK6,O75874,Q13428	15
Abnormal subcutaneous fat tissue distribution	0.6066986161433254	0.5226494003900755	0.601218256283856	1.0	1.0	3	P36543	1
Prominent veins on trunk	0.6066986161433254	0.5226494003900755	0.601218256283856	1.0	1.0	3	P36543	1
Abnormal circulating apolipoprotein concentration	0.6066986161433254	0.5226494003900755	0.601218256283856	1.0	1.0	3	P36543	1
Abnormal cutaneous elastic fiber morphology	0.6066986161433254	0.5226494003900755	0.601218256283856	1.0	1.0	3	P36543	1
Portal fibrosis	0.5185606090682223	0.5175897015868371	0.6047445685887056	1.0	1.0	4	P55263	1
Fatiguable weakness of proximal limb muscles	0.4686402487941103	0.5168187674923053	0.6052826777321858	1.0	1.0	5	Q92734	1
Abnormal insulin level	0.3645353479690165	0.5135406043043527	0.6075732152773812	1.0	1.0	23	O75431,P53985,Q16836,O75844	4
Breast carcinoma	0.3548158657377634	0.5126463730306516	0.6081987085632861	1.0	1.0	19	P48735,P46100	2
Exercise induced muscle cramps	0.4687801737454071	0.5120407087262133	0.6086225191235886	1.0	1.0	6	P23786	1
Abnormal intraocular pressure	0.4683369106514679	0.5103325776129276	0.6098184830845672	1.0	1.0	6	P04439,O75533,Q15043,Q99496	4
Hypoplastic fingernail	0.3719225045235947	0.5096831545046795	0.6102734565345971	1.0	1.0	15	O75431,Q969G3,Q92785,Q14739,O60826,P48651	6
Abnormal posterior segment imaging	0.6021530301366307	0.5083200858403959	0.6112288861258162	1.0	1.0	3	P04439	1
Chorea	0.2831539455821396	0.5064931844304285	0.6125104730704973	1.0	1.0	86	Q9H6K4,Q9HD42,P10809,P07602,O14936,Q9BPX6,P35637,Q9BWD1,P00846,Q96N66,Q01105,Q9P0J0,P17480,P03915,Q08J23	15
Sagittal craniosynostosis	0.5152649479214004	0.5062341684545748	0.6126922710924791	1.0	1.0	4	P61978	1
Angina pectoris	0.6012652128345499	0.5055373301834034	0.6131814859550997	1.0	1.0	3	O75844	1
Lateral clavicle hook	0.7909328114807567	0.5052700457910831	0.6133691785390218	1.0	1.0	2	Q9Y5S9	1
Mandibular aplasia	0.7909328114807542	0.5052700457910768	0.6133691785390263	1.0	1.0	2	P53701	1
Aplastic clavicle	0.7909328114807486	0.5052700457910607	0.6133691785390376	1.0	1.0	2	P48651	1
Breast aplasia	0.7909328114807483	0.5052700457910607	0.6133691785390376	1.0	1.0	2	P02545	1
Ascending tubular aorta aneurysm	0.5149415558854649	0.505124193180544	0.6134716099257722	1.0	1.0	4	O75844	1
Wide anterior fontanel	0.3608987189841507	0.5047769803848183	0.6137154856899019	1.0	1.0	22	Q16134,Q32P28,P40855,O75381,O75718,P56589,Q08J23	7
Papillary renal cell carcinoma	0.4641303898899615	0.4998954485269472	0.6171486972731361	1.0	1.0	5	Q92733,P02545	2
Tongue nodules	0.7889758643183153	0.4998561693643272	0.6171763566528377	1.0	1.0	2	P98175	1
Prominent ear helix	0.5132863624817208	0.4994553147437062	0.6174586592489562	1.0	1.0	4	P02545,O75844	2
Abnormal nasal base	0.3959139175495285	0.4953242869632285	0.620371229789378	1.0	1.0	11	Q92785,Q969G3,Q13868,Q8TAQ2	4
Abnormal urine ph	0.3802613025100316	0.4939588012209971	0.6213352757394606	1.0	1.0	43	P48735,P23786,O96000,Q16836,P00846,Q9BQT8,P03915,O43772	8
Hamartoma	0.356153078760679	0.49367769314479	0.6215338215034194	1.0	1.0	17	P48735,O43924,P11802,P21912,O75874,P20585	6
Abnormal number of permanent teeth	0.7866927592954963	0.4935695333443181	0.6216102217771291	1.0	1.0	2	Q14696	1
Agenesis of lateral incisor	0.7866927592954962	0.4935695333443181	0.6216102217771291	1.0	1.0	2	P41227	1
Right ventricular hypertrophy	0.5966770542256378	0.4912414505493992	0.6232556850774462	1.0	1.0	3	Q15233	1
Aplasia hypoplasia of the nasal bone	0.5964269159856477	0.4904662217037732	0.6238040265152283	1.0	1.0	3	O14974	1
Nausea and vomiting	0.3256949719574644	0.4893611464400801	0.6245860381536574	1.0	1.0	141	P00403,Q96CV9,Q9Y6M9,P42892,Q9NSD9,O96000,P61978,O43676,P00846,Q8IZA0,Q92804,Q15165,Q13423,P23786,Q9Y584,P22695,Q969G3,P03915,Q96CU9,Q86Y39,P07602,Q2TAA5,Q8N183,P50995,P35637,Q16836,P46100,Q16134	28
Lumbar hyperlordosis	0.3553047967984821	0.4887705735166478	0.6250041333090071	1.0	1.0	17	Q96HY6,Q9Y5P6,P06753	3
Head tremor	0.3788176438026186	0.4887589551649159	0.625012359713522	1.0	1.0	13	P20700,P35637,Q9Y4W6	3
Tetraparesis	0.3776486415504491	0.4875274151769538	0.6258846195896373	1.0	1.0	35	P00846,P35637,Q9UBX3,P07602	4
Ovoid vertebral bodies	0.4435730995182022	0.4852595177207413	0.6274922677694676	1.0	1.0	7	P54802,P15586	2
Olivopontocerebellar hypoplasia	0.5941272430668669	0.4833595497589941	0.6288404641621512	1.0	1.0	3	P30153,Q9Y5P6	2
Encephalopathy	0.2986774609389876	0.4807232388736169	0.630713212441631	1.0	1.0	107	Q5U5X0,Q86Y39,P07602,P23786,P00403,O96000,Q8N183,Q16836,O43676,Q9Y6M9,Q15067,Q96F07,P03915,O43772,Q96CU9	15
Exodeviation	0.3611274119449051	0.4795362957671646	0.6315571535947531	1.0	1.0	24	Q15233,Q5U5X0,P98172,P46100	4
Cerebral hemorrhage	0.3814442949175927	0.478935704029276	0.6319843699035772	1.0	1.0	12	P23786	1
Limitation of joint mobility	0.288465030258079	0.4765023466072401	0.6337165359620673	1.0	1.0	95	O75431,P06753,P54802,Q9H6K4,O75844,P37268,P15586,Q8TD16,O75874,P51648,P48735,P23786,P50402,Q7LGA3,P16435,P02545,Q96AY3,P48651,O14979,Q9BX10,P46100,O14974,Q8WVM7	23
Dermal translucency	0.4414013797713794	0.4763797031233407	0.6338038920092457	1.0	1.0	7	O75844	1
Memory impairment	0.3758691073634097	0.4757328117210006	0.6342647418598024	1.0	1.0	35	P00403,P03915,P07602	3
High anterior hairline	0.365653329020615	0.4756680798438136	0.6343108651006377	1.0	1.0	15	O96028,Q7LGA3,Q8N3U4,P98172	4
Morphological abnormality of the corticospinal tract	0.3651114030490676	0.4727537202615996	0.6363888954184898	1.0	1.0	15	P00846	1
Postaxial hand polydactyly	0.4010751291529597	0.4693521520560325	0.6388179433919197	1.0	1.0	10	O00459,Q14739,O43924,Q10713	4
Impacted tooth	0.5891822401236583	0.4682053070024906	0.639637777387636	1.0	1.0	3	O75844	1
Limitation of movement at ankles	0.5891822401236583	0.4682053070024906	0.639637777387636	1.0	1.0	3	O75844	1
Abnormal csf metabolite level	0.3564350148486661	0.467512393875368	0.6401333269201115	1.0	1.0	59	Q86Y39,Q8N183,P00403,O96000,O43676,O95831,P00846,Q8NI60,Q9Y6M9,P03915,Q96CU9	11
Abnormal pericardium morphology	0.3898469039881851	0.466224634536795	0.6410547179607478	1.0	1.0	11	P14174,P49748,P02545,Q14108,O15460	5
Misalignment of incisors	0.4563212644616005	0.4646345357668686	0.6421931960365121	1.0	1.0	6	P46100	1
Short palpebral fissure	0.3643007308094156	0.464177838077094	0.6425203378472837	1.0	1.0	27	P55795,O75844,Q14004,Q03164,O14974,P02545,P98175	7
Anteriorly placed anus	0.3999229412875146	0.4640212030219293	0.6426325546876479	1.0	1.0	10	P53701,P49748,P16435,P62070,Q6NUK1,P48651	6
Pericardial effusion	0.4559233402250455	0.4631419619759564	0.6432626138779562	1.0	1.0	6	P02545,P49748,Q14108	3
Abnormal anatomic location of the heart	0.4095241600402727	0.4617472106796299	0.6442626110810581	1.0	1.0	9	Q10713,O75844	2
Contractures involving the joints of the feet	0.348678776342984	0.46012106436173	0.6454293252724805	1.0	1.0	20	P50402,Q8TD16,P02545,Q8IZA0,Q08J23	5
Visual loss	0.3702906921593976	0.4567695901069515	0.6478366656101286	1.0	1.0	50	P00403,P00846,P03915,Q10713	4
Optic disc pallor	0.3710228550140462	0.4543736699841317	0.6495599001043151	1.0	1.0	49	Q9H6K4,Q5U5X0,Q86Y39,Q96CU9,Q8N183,O96000,O43676,O95831,P00846,Q9H061,Q9Y6M9,Q9BUK6,Q10713,Q6P4Q7	14
Abnormal delivery	0.3497192239800029	0.451421522053359	0.6516857746316695	1.0	1.0	21	Q9Y619,O75844,Q9Y487,P06753,P02545,O75718	6
Entropion	0.3968184459702708	0.449731586554928	0.6529039928305582	1.0	1.0	10	P02545,O75844	2
Abnormal circulating proline concentration	0.7703848662752658	0.4496245753727123	0.6529811648380806	1.0	1.0	2	O96000	1
Thin skin	0.3557999903332063	0.4470738664824407	0.6548217273456358	1.0	1.0	24	O75431,O75844,Q13126,P02545,P17252	5
Abnormal circulating estrogen level	0.3852793224609705	0.4446067682114096	0.6566039554416236	1.0	1.0	11	Q969G3,P04637,P16435,Q99496	4
Orofacial dyskinesia	0.4508553014873271	0.4442556916504946	0.6568577318014654	1.0	1.0	6	P49959,Q9BPX6	2
Posteriorly rotated ears	0.2906975652176746	0.4413091974764591	0.6589891684984526	1.0	1.0	101	Q4J6C6,Q15392,P23786,Q14004,P46100,P98175,Q8NAT1,O75381,P42892,P56589,Q10713	11
Abnormal aldolase level	0.4473749080699148	0.438575727803692	0.6609689875565019	1.0	1.0	5	Q8NAT1	1
Telecanthus	0.3722641851729773	0.4382999119101869	0.6611688897819947	1.0	1.0	39	O00459,O75844,P21964,O15344,Q03164,P98172,P46100,Q96EK5,P02545,Q00577,Q16134,Q86XL3,Q08J23	13
Stillbirth	0.383509357313943	0.4363001701510657	0.6626189584338755	1.0	1.0	11	P02545,P49454,P16435,O75844	4
Subcapsular cataract	0.4466827719455315	0.436099064866055	0.6627648556201116	1.0	1.0	5	Q9H6K4,Q8N2K0	2
Raynaud phenomenon	0.448422455141089	0.4352729222690493	0.6633643369768949	1.0	1.0	6	P02545,O75844	2
Focal t2 hyperintense brainstem lesion	0.3417183266367725	0.4345356877411048	0.6638994852278182	1.0	1.0	19	Q86Y39,O96000,O43676,Q9Y6M9,Q96CU9	5
Abnormal parotid gland morphology	0.7645140247879889	0.4342338630065968	0.6641186250705537	1.0	1.0	2	Q13428	1
Tachycardia	0.3556438203848178	0.4338113852261851	0.664425413291923	1.0	1.0	25	P42892,O43772	2
Abnormal femoral head morphology	0.338600473185957	0.4324188766430807	0.6654370009951804	1.0	1.0	18	O75431,O95831	2
Axonal regeneration	0.4927071482661205	0.4307911979237566	0.6666202002524428	1.0	1.0	4	P07196	1
Supraventricular tachycardia	0.4470717117862995	0.4303095701899252	0.6669704664052436	1.0	1.0	6	P02545,P41227	2
Metaphyseal irregularity	0.4018742933547833	0.4277027594799643	0.6688675405880724	1.0	1.0	9	Q96HY6	1
Hypertrophic cardiomyopathy	0.2928718893735468	0.4273682736503408	0.6691111119215858	1.0	1.0	105	P00403,P54802,Q9P0J0,Q9Y6M9,O96000,P15586,O43676,P00846,Q13423,Q9Y276,P50402,P34897,P02545,P03915,Q9H061,Q96CU9,Q86Y39,Q8N183,Q16836	19
Truncal titubation	0.7612524461839484	0.4257858194969603	0.6702639208115246	1.0	1.0	2	Q5T8D3	1
Primary peritoneal carcinoma	0.4903889994090256	0.4232814140902864	0.6720899529472346	1.0	1.0	4	P49959,P04637	2
Bowing of the legs	0.3690964617946174	0.4196314790220763	0.6747546884404119	1.0	1.0	45	O75431,Q9NR77,P46100,Q13126,Q32P28,P17252,Q96HY6	7
Hyporeflexia	0.3016635725979587	0.4170927009728058	0.6766106035388415	1.0	1.0	117	P06753,P54802,Q15067,Q9NR77,P35610,O95831,P00846,Q8NAT1,Q96F07,Q10713,P02545,P03915,Q9BUK6,O14979,P07602,Q9NSE4,P41440,P35637,Q96BR5	19
Abnormal retinal artery morphology	0.3462595142335963	0.4167153004558224	0.6768866615895721	1.0	1.0	22	P00846,P03915	2
Abnormal nerve conduction velocity	0.3692785428535344	0.4157527887005762	0.6775909088416521	1.0	1.0	42	O15121,O95831,Q9NR77	3
Osteolysis involving bones of the upper limbs	0.4081494064583481	0.4140525306840298	0.6788356361209049	1.0	1.0	8	O75431,O75844	2
Abnormal levels of alpha fetoprotein	0.4874451413701454	0.4138146041257879	0.6790098877142339	1.0	1.0	4	P35222,Q9NWH9	2
Epiphyseal stippling	0.3674877778739845	0.4112750100233952	0.6808708916294686	1.0	1.0	12	P56589,P40855,O75381	3
Neurofibromas	0.4248724337310535	0.4102365705280768	0.6816324164989844	1.0	1.0	7	P21912,Q969G3,Q07954	3
Abnormality of the tongue	0.2756591300877822	0.4097161538455636	0.682014178787071	1.0	1.0	86	O75431,Q96CV9,P16278,P07196,Q03252,Q13428,O75844,P61978,O95831,P40855,O75381,P56589,Q10713,Q7LGA3,P02545,Q969G3,P48651,P46100,P98175,Q9BQT8,O60826,P20700	22
Transient ischemic attack	0.4070165280650732	0.40922902851777	0.6823715932876226	1.0	1.0	8	P02545,P18583,P04637,O75844	4
Hamartomatous polyposis	0.754729288975855	0.4091144165639586	0.6824556969408797	1.0	1.0	2	P20585	1
Chorioretinal coloboma	0.4244060039400925	0.4084095497811657	0.682973023478036	1.0	1.0	7	Q10713,O60826,O14936	3
Slow saccadic eye movements	0.3875565953886599	0.407780026477847	0.6834351787065565	1.0	1.0	10	P34897,Q8IV08	2
Abnormal head movements	0.3768097032822294	0.4052335543805692	0.6853058427036143	1.0	1.0	11	P20700,P35637	2
Distal sensory impairment	0.3674582028920051	0.4044089469788334	0.6859120220525063	1.0	1.0	40	Q9NSE4,Q9NR77,Q92734,P54802,Q96BR5,O95831,P02545,Q9BUK6	8
Abnormal subarachnoid space morphology	0.3606266052384309	0.4040482770668006	0.6861772186494979	1.0	1.0	31	P00403,P03915,Q2TAA5,O95831	4
Abnormality of the calf	0.356468458558272	0.4032135169200134	0.6867911567482974	1.0	1.0	55	O75431,Q9NR77,P46100,O95831,Q13126,Q32P28,P17252,Q96HY6	8
Joint contracture of the hand	0.3670790814855244	0.4029349638100943	0.6869960692289019	1.0	1.0	44	Q15392,Q9NR77,P06753,O75844,P41227,Q99567,P98172,P16435,P02545,Q8IZA0,P07196,P42892,Q9Y6X9	13
Skin dimple	0.3437817558181916	0.4022023989829646	0.6875350768419346	1.0	1.0	22	O95202,P53701,O96028,P62258,Q03164,P61978,Q9H3P2,Q8TAA9,P49366,Q969X5,Q08J23	11
Motor axonal neuropathy	0.3557555722956483	0.3967871330420288	0.6915244398760858	1.0	1.0	14	P22626,O95831	2
External ear malformation	0.3444099637165991	0.393188699447217	0.6941801155229079	1.0	1.0	16	P56589,Q00577,P40855,O75381	4
Lymphoma	0.3507424502502764	0.3927665115091638	0.6944919409515409	1.0	1.0	26	P00813	1
Abnormality of the metaphysis	0.3647586688696977	0.3922860527471498	0.6948468677617496	1.0	1.0	46	P48735,P00813,O95831,Q13126,Q96HY6	5
Abnormal acetabulum morphology	0.3381433045668232	0.3920835920154779	0.694996450568161	1.0	1.0	17	Q96AY3,Q9Y584	2
Pseudoepiphyses of the metacarpals	0.5631128718000459	0.3914065665412383	0.6954967393162663	1.0	1.0	3	O96028	1
Pseudoepiphyses of hand bones	0.5631128718000459	0.3914065665412383	0.6954967393162663	1.0	1.0	3	O96028	1
Pseudoepiphyses	0.5631128718000459	0.3914065665412383	0.6954967393162663	1.0	1.0	3	O96028	1
Abnormality of chromosome stability	0.3631183117988891	0.3906703201521094	0.6960409399150669	1.0	1.0	12	Q969G3	1
Myoglobinuria	0.3932943988136043	0.3903134314701823	0.6963047925135519	1.0	1.0	9	P23786	1
Postural instability	0.3309319898908696	0.3884035923458682	0.6977173861927881	1.0	1.0	18	Q9NR77	1
Skin ulcer	0.353524089561557	0.3879560990624752	0.6980485219296226	1.0	1.0	28	Q03519,Q8IZA0,P48735	3
Neoplasm of the peripheral nervous system	0.3307082446207414	0.3871372341428322	0.6986546137850431	1.0	1.0	18	Q99496,P46100,P02545,P21912,Q02978,Q969G3,Q07954	7
Foot dorsiflexor weakness	0.3578160936534498	0.3867161703097528	0.6989663436356617	1.0	1.0	31	P31483,Q9NR77,P06753,Q14739,Q96BR5,P02545,Q9BQT8,P07196,Q9Y6X9	9
Bulbar palsy	0.3823849644523642	0.384828998937505	0.7003641125839166	1.0	1.0	10	P35637,P06753	2
Arthrogryposis multiplex congenita	0.3609041674566904	0.3846407876028273	0.7005035706046252	1.0	1.0	34	Q9HD42,Q15392,O75844,P06753,Q99567,Q8TD16,P02545,Q96AY3,Q969X5,Q9UPT5	10
Abnormality of iron homeostasis	0.4309687467184778	0.3811918041827118	0.703060930169753	1.0	1.0	5	P28288	1
Atopic dermatitis	0.4306235716617667	0.3800154508976066	0.7039339458641725	1.0	1.0	5	Q9Y6X9,O95394,Q8TD19,P62070	4
Pigmentary retinopathy	0.3638478538211979	0.3788293113660326	0.7048146195327183	1.0	1.0	42	Q8N183,P00403,Q16836,P00846,Q15067,P03915,Q9BUK6,Q96CU9	8
Emphysema	0.3904942807714714	0.3783060867120158	0.7052032243008255	1.0	1.0	9	Q03519,Q9NSD9	2
Posterior embryotoxon	0.3351440823200923	0.3757450615779876	0.7071064342211786	1.0	1.0	17	P21964,Q7LGA3,P40855,O75381,P56589	5
Aplasia hypoplasia involving forearm bones	0.3350738334102096	0.3753645531264011	0.7073893633178221	1.0	1.0	17	Q96AY3	1
Areflexia	0.2712345587818313	0.3752630947420174	0.7074648100687804	1.0	1.0	84	Q9H6K4,P41440,Q9NR77,Q92734,P06753,P61978,Q9H173,O95831,Q13217,P02545,Q8TD16,Q8NAT1,O75477,Q9BQT8,P07196,Q15067,P56589,O95721	18
Bone pain	0.3340245056238738	0.3748675302148861	0.7077589882300881	1.0	1.0	20	P48735,P07602,Q6UN15,Q14108,O75874,P53680	6
Adrenocorticotropic hormone deficiency	0.7407045009784676	0.3743215477086157	0.7081651026887681	1.0	1.0	2	O00170	1
Megalocornea	0.3698043564624976	0.3734237138628697	0.7088331127736898	1.0	1.0	11	O95202,O96028,Q9H3P2,Q96EK5,Q9Y5P6	5
Abnormal protein o linked glycosylation	0.4742616527801901	0.3724232549488727	0.7095777422419007	1.0	1.0	4	Q8N511	1
Bilateral cleft palate	0.7397260273972563	0.3719492979794391	0.7099305995902336	1.0	1.0	2	Q12959	1
Non midline cleft palate	0.7397260273972563	0.3719492979794391	0.7099305995902336	1.0	1.0	2	Q12959	1
Abnormal metatarsal morphology	0.338529736960902	0.3718572481297807	0.7099991372176095	1.0	1.0	22	Q15392,O96028,P16435,Q8NAT1,Q08J23,Q03252	6
Aplasia hypoplasia of the radius	0.3402236025735817	0.371173941189141	0.7105079809046901	1.0	1.0	16	Q96AY3	1
Abnormality of pain sensation	0.3450688358481872	0.3710346082030221	0.7106117549720947	1.0	1.0	25	O95831,Q9NR77	2
Preaxial foot polydactyly	0.7387475538160382	0.3695843986527201	0.7116921773669467	1.0	1.0	2	O96028	1
Rieger anomaly	0.7387475538160382	0.3695843986527201	0.7116921773669467	1.0	1.0	2	O96028	1
Ectopia pupillae	0.7387475538160382	0.3695843986527201	0.7116921773669467	1.0	1.0	2	O96028	1
Malrotation of small bowel	0.7387475538160382	0.3695843986527201	0.7116921773669467	1.0	1.0	2	O96028	1
Craniofacial asymmetry	0.7387475538160382	0.3695843986527201	0.7116921773669467	1.0	1.0	2	O96028	1
Mitral stenosis	0.5547004638507523	0.3678271187770874	0.713002146607193	1.0	1.0	3	O75844	1
Aortic valve calcification	0.5547004638507523	0.3678271187770874	0.713002146607193	1.0	1.0	3	O75844	1
Fatigable weakness of skeletal muscles	0.396786350775053	0.3663370441299621	0.714113590703559	1.0	1.0	8	Q92734,P06753	2
Spinal rigidity	0.3534107325461658	0.3636696479891705	0.7161047109882681	1.0	1.0	13	Q5JTV8,P06753,P02545,P50402	4
Simplified gyral pattern	0.3491269490584594	0.3617500688404577	0.7175388078149052	1.0	1.0	28	Q86XL3,Q969G3,P20700,Q9UPT5,Q03252	5
Abnormal diaphysis morphology	0.339171287140704	0.3594161986842352	0.7192837584267906	1.0	1.0	61	O75431,Q9NR77,Q7LGA3,P46100,Q13126,Q32P28,Q96AY3,P17252,O75718,Q96HY6,P48651	11
Mucosal telangiectasiae	0.385970194527731	0.3591206168427387	0.7195048589618072	1.0	1.0	9	Q8IZA0,P10619	2
Abnormality of bladder morphology	0.3855876578904718	0.3575108581405161	0.7207093989755695	1.0	1.0	9	Q9NWM8	1
Bowing of the arm	0.469200885946579	0.3569917783314333	0.7210979606982164	1.0	1.0	4	Q32P28	1
Abnormality of metacarpophalangeal joint	0.4681110544452176	0.3537032596470327	0.7235612794812243	1.0	1.0	4	Q15233	1
Abnormality of the peripheral nervous system	0.2785564455581766	0.350860924965252	0.7256926874972942	1.0	1.0	95	P07602,Q9NR77,P41440,O15121,P46100,O95831,P42892,Q10713	8
Spastic tetraparesis	0.3390838713174357	0.3487740968519958	0.7272589114655452	1.0	1.0	24	P00846,Q5U5X0,P07602	3
Abnormal activity of mitochondrial respiratory chain	0.3535119359655037	0.347846997317642	0.7279550922884626	1.0	1.0	52	Q86Y39,Q70HW3,Q8N183,O96000,O43676,Q9Y584,Q9Y6M9,Q9Y2R0,Q9UBX3,Q96CU9	10
Emotional lability	0.3507397159818329	0.3466878954442262	0.7288258049222325	1.0	1.0	54	P07602,Q8N183,P50995,Q96CV9,P35637,P17252,Q9P0J0,Q92804,Q969G3,Q15165,P09651,Q96CU9	12
Abnormality of retinal pigmentation	0.3183841347407645	0.3459889747440091	0.7293510005208275	1.0	1.0	68	Q96CU9,Q8N183,P00403,Q16836,P00846,P02545,P40855,Q9P0J0,Q15067,P56589,P03915,Q9BUK6,O75381,Q6P4Q7	14
Central hypothyroidism	0.3732958717013006	0.3453896866435181	0.7298014295510622	1.0	1.0	10	O00170,Q8N3U4,Q99496,Q969G3	4
Narrow palpebral fissure	0.3494772825079635	0.3452346333664206	0.7299179838422951	1.0	1.0	13	P38159	1
Renal tubular dysfunction	0.3580835316573754	0.3449685051205328	0.7301180482629988	1.0	1.0	39	Q86Y39,Q8N183,P00403,O96000,O43676,Q16134,P40855,Q9Y6M9,P03915,Q96CU9	10
Abnormal brainstem morphology	0.2729545035192526	0.3436516656396499	0.7311082648343437	1.0	1.0	89	Q86Y39,Q8N183,O96000,O15121,O43676,O95831,Q96EK5,Q13217,Q9Y6M9,Q969G3,P20700,Q9UPT5,Q10713,Q96CU9	14
Ectropion of lower eyelids	0.7270058708414853	0.3417890444015397	0.7325096549200221	1.0	1.0	2	O60716	1
Distal sensory impairment of all modalities	0.4188703885079991	0.3407799856165188	0.7332692187260754	1.0	1.0	5	P19367,O15270,O15269,P48643	4
Absent brainstem auditory responses	0.463647743742839	0.3403663500652358	0.7335806562880198	1.0	1.0	4	P07196	1
Osteomalacia	0.4635406412467826	0.3400489308516588	0.7338196796664529	1.0	1.0	4	P53680	1
Osteoarthritis	0.3517749099838982	0.338621333818388	0.7348950090744721	1.0	1.0	12	O75844,P02545,Q14108,Q96HY6,P35670	5
Colpocephaly	0.4058489895947751	0.337693265678299	0.7355943501652085	1.0	1.0	7	Q8N3U4,O14974	2
Dyscalculia	0.3806300870548664	0.3368308094655269	0.7362444462395914	1.0	1.0	9	P35637,P22626	2
Cough	0.3410853452511995	0.3363910408857612	0.7365760045909082	1.0	1.0	26	P41440,Q92734,Q6UN15,Q9NR77,Q9NSD9	5
Focal dystonia	0.3267984919698769	0.3344838747110727	0.7380144570161016	1.0	1.0	20	P35637,Q15043,Q13428	3
Abnormal forearm bone morphology	0.3268038883606609	0.3313009620558552	0.7404171646874205	1.0	1.0	17	Q32P28	1
Telangiectasia of the skin	0.3266646527646759	0.3305719434295521	0.7409678416937839	1.0	1.0	17	Q8IZA0	1
Ambiguous genitalia	0.3205052354543519	0.3305588250125218	0.7409777521366265	1.0	1.0	18	Q15392	1
Limb undergrowth	0.3546376492088744	0.3293423113188168	0.7418969664725419	1.0	1.0	48	P48735,Q15392,Q03164,P98172,P98175,P17252,O75874,Q96HY6	8
Dementia	0.3530478212009806	0.329187401428487	0.7420140449630364	1.0	1.0	50	P22626,P07602,Q9Y487,P00403,P36543,P35637,P03915,P00846,Q9UBB4,O15118,Q14108,P09651,P20700,P35670	14
Abnormality of complement system	0.4589469311182291	0.3265521039784892	0.7440066745393576	1.0	1.0	4	Q03252	1
Neurogenic bladder	0.4175469621979731	0.3265378417137691	0.7440174633555123	1.0	1.0	6	Q8TAA9,P56589,P50336	3
Supernumerary spleens	0.4009432107611445	0.3196898206990602	0.7492034770666831	1.0	1.0	7	Q15904,P49454	2
Aphasia	0.3520967108232098	0.3189531314497448	0.7497620536235983	1.0	1.0	36	P22626,P00403,Q7LGA3,P21964,P46100,P09651,P17480,P03915,Q13428	9
Abnormal eating behavior	0.3210321175957386	0.3179644286433273	0.7505119195313286	1.0	1.0	19	Q4J6C6,P35610,Q92785,P49366,Q969G3	5
Joint stiffness	0.3467817859121906	0.3167711307661423	0.7514172712599736	1.0	1.0	54	O75431,P48735,Q9BX10,O75844,P50402,P54802,P15586,P46100,P16435,O14974,P02545,Q96AY3,O75874,P51648	14
Elevated urinary carboxylic acid	0.4145782920249247	0.3166509614738753	0.7515084623523429	1.0	1.0	6	O96000,P50336,P36551	3
Metaphyseal widening	0.3179067174132626	0.3165357279100764	0.7515959112006942	1.0	1.0	18	O95831	1
Hepatic necrosis	0.3754810566810305	0.315722407526155	0.7522132172548961	1.0	1.0	9	Q16134,P49748,Q16836	3
Absence of subcutaneous fat	0.3995909880610483	0.3147819095473445	0.7529272480930593	1.0	1.0	7	O75844	1
Decreased circulating acth level	0.4139538284438969	0.3145850688014411	0.7530767173604045	1.0	1.0	6	O00170,Q969G3	2
Exercise induced myalgia	0.3658021017732367	0.3137998655008612	0.753673046544487	1.0	1.0	10	P23786	1
Unilateral renal agenesis	0.3232166692872181	0.3126610491409193	0.7545381911441242	1.0	1.0	17	Q86XL3	1
Airway obstruction	0.3285428960651012	0.311627282672907	0.7553237974576588	1.0	1.0	16	P21964,P02545,Q96HY6,O75844	4
Attenuation of retinal blood vessels	0.4127710024121664	0.3106852854255318	0.7560398845879266	1.0	1.0	6	P04439,O43837	2
Minimal change glomerulonephritis	0.3454004328289378	0.3103608475948718	0.7562865641780971	1.0	1.0	12	Q8NFH4,O43707,Q9BW27,Q8WUM0,Q14C86,Q8N1F7,Q12769	7
Peritonitis	0.3454004328289378	0.3103608475948718	0.7562865641780971	1.0	1.0	12	Q8NFH4,O43707,Q9BW27,Q8WUM0,Q14C86,Q8N1F7,Q12769	7
Polydactyly	0.352656816011313	0.3046859977120553	0.7606053150712144	1.0	1.0	43	O00459,O43924,P21964,O96028,P61978,P98172,P49454,P98175,Q00577,O60826,P17252,Q14739,Q15067,Q8N3U4,Q9Y2V7,Q10713	16
Hyperintensity of cerebral white matter on mri	0.3206782036284746	0.3012447776898806	0.76322784704227	1.0	1.0	20	P17480,P07602,P20700,Q9BUK6	4
Hypochromic anemia	0.3397014950649836	0.3006665570128544	0.7636687730453071	1.0	1.0	13	P46100	1
Vitritis	0.5287198929118653	0.2991450303309131	0.76482938921381	1.0	1.0	3	P04439	1
Emg chronic denervation signs	0.3353325499351912	0.298802309825564	0.7650908884276053	1.0	1.0	14	P22626,P07602	2
Laryngomalacia	0.3307203321185702	0.2980064029128851	0.7656982767206204	1.0	1.0	15	P21964,P02545,P07602,P16435	4
Rhizomelia	0.3610882834077607	0.2943890087979576	0.7684606647076582	1.0	1.0	10	Q03164,Q15392	2
Heterogeneous	0.3493997534689369	0.2902351983152853	0.771636310174991	1.0	1.0	39	Q9Y619,O75844,P21964,P06753,Q9NR77,O15344,Q16836,P46100,P00846,P02545,P07196,Q9Y3D3,P11717,P03915	14
Abnormal circulating aromatic amino acid concentration	0.4458224543081001	0.2893004932638366	0.7723514348787293	1.0	1.0	4	P61457,Q9UJS0,P09417	3
Abnormal vitreous humor morphology	0.3774552885298958	0.2889247824947795	0.7726389384262671	1.0	1.0	8	P04439,Q99496,P53701,P35222,O75533	5
Congenital contracture	0.3495347872191986	0.2883440949346039	0.7730833568724202	1.0	1.0	40	Q9HD42,Q15392,O75844,P06753,Q99567,Q8TD16,P02545,Q96AY3,Q9Y6X9,Q96A33,Q969X5,Q9UPT5	12
Abnormal vertebral morphology	0.2782227133694832	0.2862130444383107	0.7747149534556521	1.0	1.0	101	P48735,P00813,P54802,P61978,P46100,O95831,Q32P28,Q96AY3,Q96HY6,Q10713	10
Childhood onset sensorineural hearing impairment	0.7015655577299258	0.2854295366010263	0.7753150813462331	1.0	1.0	2	Q9NSE4	1
Prelingual sensorineural hearing impairment	0.7015655577299258	0.2854295366010263	0.7753150813462331	1.0	1.0	2	Q9NSE4	1
Hyperinsulinemic hypoglycemia	0.3909893946321937	0.2841366717296376	0.7763056446159466	1.0	1.0	7	P53985	1
Glomerulopathy	0.3672213863757932	0.282697227577219	0.7774089416693684	1.0	1.0	9	P02545,Q03252	2
Paroxysmal involuntary eye movements	0.3194423191264974	0.2805005780379471	0.7790934820476081	1.0	1.0	21	Q86Y39,O96000,O43676,Q9Y6M9,Q96CU9	5
Upper eyelid coloboma	0.6989562948466916	0.2799606727809474	0.7795076773918845	1.0	1.0	2	Q13428	1
Absent nipple	0.6989562948466896	0.2799606727809425	0.7795076773918883	1.0	1.0	2	P10586	1
Complete duplication of phalanx of hand	0.4423957824997465	0.2799062755323184	0.7795494124228883	1.0	1.0	4	P34897	1
Abnormality of fibula morphology	0.3471375590406214	0.2758842539530025	0.7826369682793524	1.0	1.0	11	Q96HY6	1
Small earlobe	0.3738225971158654	0.2749672676657447	0.7833413859471401	1.0	1.0	8	P98175,P10586	2
Hepatic failure	0.3453608615091227	0.2749620627040755	0.7833453848426546	1.0	1.0	50	P23786,Q16836,P46100,P00846,O43772,O75381,P56589,P03915,Q10713	9
Serositis	0.3154292178082614	0.2732593632964639	0.7846538503375546	1.0	1.0	17	Q8NFH4,P14174,O43707,Q9BW27,Q8WUM0,Q14C86,Q8N1F7,O15460,Q12769	9
Bifid scrotum	0.4010478835071553	0.2730067975438212	0.7848479903138934	1.0	1.0	6	Q96EK5	1
Aplasia hypoplasia of the patella	0.439705629920279	0.2726306775702329	0.7851371276484471	1.0	1.0	4	Q9Y5S9,Q96AY3	2
Portal vein thrombosis	0.6950424005218458	0.2718692820461833	0.7857225312722784	1.0	1.0	2	Q9NWH9	1
Epigastric pain	0.6950424005218458	0.2718692820461833	0.7857225312722784	1.0	1.0	2	Q9NWH9	1
Splanchnic vein thrombosis	0.6950424005218458	0.2718692820461833	0.7857225312722784	1.0	1.0	2	Q9NWH9	1
Sudden loss of visual acuity	0.6950424005218429	0.271869282046177	0.7857225312722833	1.0	1.0	2	O00170	1
Retinal perforation	0.6950424005218391	0.2718692820461691	0.7857225312722893	1.0	1.0	2	P04439	1
Open mouth	0.3368276852851706	0.2718151873751142	0.78576412690697	1.0	1.0	30	Q15233,P61978,P46100,Q00577,Q86XL3,Q10713	6
Limb dystonia	0.3361439826668141	0.2707083187637695	0.7866153781923466	1.0	1.0	12	Q8N3U4,P35637	2
Abnormality of the musculature of the lower limbs	0.3366054616194693	0.2705695602788086	0.7867221101723689	1.0	1.0	30	Q9BTV4,P50402,Q9NR77,P00846,P02545,Q8NAT1,P07196,O14979	8
Back pain	0.3223127291525875	0.2690969797957445	0.7878550545176075	1.0	1.0	23	Q8WXH0,P50336,Q9BTV4,P50402,P02545,Q8TAA9,P36551,Q969G3,P04637,P35670	10
Abnormal exteroceptive sensation	0.3451171816349639	0.2681782036185658	0.7885621516754671	1.0	1.0	49	Q9H6K4,P07602,Q9NR77,P54802,O95831	5
Acetabular dysplasia	0.3632440858497875	0.2671812736507445	0.7893295936798319	1.0	1.0	9	Q9Y584,P16278	2
Spinal canal stenosis	0.3859781229720458	0.2667585015398904	0.7896551076789746	1.0	1.0	7	O00170,Q9NSE4	2
Difficulty running	0.3278854308004771	0.2651695254378314	0.7908788699830203	1.0	1.0	14	P06753,Q9BPX6,Q8TD16,P07196,Q9Y5P6	5
Breech presentation	0.3614219009851127	0.2601601250583186	0.7947402610241254	1.0	1.0	9	Q9Y619,O75718,P06753	3
Scleroderma	0.3923270191179605	0.2585800878524483	0.7959592484301552	1.0	1.0	5	P02545	1
Eruption failure	0.3834615294521761	0.258168884425336	0.7962765707381354	1.0	1.0	7	O75844	1
Abnormality of the peritoneum	0.3174051132733334	0.2577043924747035	0.7966350558797652	1.0	1.0	16	Q8NFH4,Q01844,O43707,Q9BW27,Q8WUM0,Q14C86,Q8N1F7,P04637,Q12769	9
Abnormal muscle fiber alpha dystroglycan	0.6872146118721347	0.2560939659976886	0.7978782811022151	1.0	1.0	2	Q9Y5P6	1
Calf muscle pseudohypertrophy	0.6872146118721347	0.2560939659976886	0.7978782811022151	1.0	1.0	2	Q9Y5P6	1
Abnormal blood gas level	0.510848450995492	0.2558401769904725	0.7980742492854391	1.0	1.0	3	P06753	1
Hypogonadotropic hypogonadism	0.3243923324750257	0.2557157037727028	0.7981703683850814	1.0	1.0	25	P00403,P03915	2
Calcinosis	0.390852087243922	0.2542955394363829	0.7992672455813636	1.0	1.0	5	P02545,O75844	2
Aplasia hypoplasia involving bones of the thorax	0.3364761142466058	0.2531051934531884	0.8001869257255028	1.0	1.0	32	O75431,O75844,P41227,Q03164,P98172,P16435,P02545,Q8TAA9,P98175,Q14739,O60826,Q96HY6,P48651	13
Non midline cleft lip	0.4321148825065311	0.2525832322618752	0.8005902886758005	1.0	1.0	4	Q15427,Q9NXE4,O60716	3
Neoplasm of the pancreas	0.3166828193640162	0.2525697323382256	0.8006007218988396	1.0	1.0	22	Q01844,Q99496,P78549,P11802,O95453,Q9NYB0,P04637	7
Intracellular accumulation of autofluorescent lipopigment storage material	0.6852576647097064	0.2522358893975104	0.8008587389567172	1.0	1.0	2	O14773	1
Peroneal muscle atrophy	0.5080924899137043	0.2494663599751431	0.803000059310744	1.0	1.0	3	Q9NR77	1
Ankyloglossia	0.3663825135267723	0.247017253684858	0.8048948712517565	1.0	1.0	8	O75844	1
Distal sensory loss of all modalities	0.4295039164490848	0.2458552744925751	0.8057942670556033	1.0	1.0	4	P19367,O15270,O15269	3
Bird like facies	0.3796578143245115	0.2453652451068115	0.8061736369858719	1.0	1.0	7	O75844	1
Decreased number of peripheral myelinated nerve fibers	0.3192743683925446	0.2451986567594782	0.8063026164000806	1.0	1.0	15	Q92734,P02545,P07196,Q9NR77	4
Abnormal cranial nerve physiology	0.3012406105420657	0.245044461702102	0.8064220051248769	1.0	1.0	70	P48651,P48735,P07602,Q9NR77,P06753,Q969G3,Q92734,Q15043,P34897,P02545,Q86U42,P40855,O75381,P07196,P56589,O75874	16
Bladder neoplasm	0.3793855525773495	0.2444571844775184	0.8068767579969298	1.0	1.0	7	P35222,P04637,P78549	3
Abnormal consumption behavior	0.3124504701437593	0.2442105215547653	0.8070677787063578	1.0	1.0	21	Q4J6C6,P35610,Q8TAQ2,Q92785,P49366,Q8N5K1,Q969G3,O14497	8
Lipoma	0.3915124619880408	0.2437280370899268	0.8074414576004338	1.0	1.0	6	Q8TAA9,Q9BUK6	2
Abnormality of the wrist	0.3242476917761598	0.2435747219729283	0.807560207671413	1.0	1.0	26	Q9H6K4,Q9Y5S9,O75844,P16435,O95831,P02545,P16278	7
Polycystic liver disease	0.5053833605220068	0.2432822522289202	0.8077867521166464	1.0	1.0	3	Q9UGP8,P14314	2
Scapular winging	0.3173180142526904	0.2429752579731818	0.8080245644588075	1.0	1.0	23	Q9BTV4,P50402,P06753,Q8TD16,P02545,P07196,Q9Y5P6	7
Tongue atrophy	0.3849035346994126	0.2373373852744722	0.812395061242879	1.0	1.0	5	P07196,Q9Y6X9	2
Keratosis pilaris	0.5026950142515809	0.2372260492918918	0.8124814286040183	1.0	1.0	3	Q07954	1
Impaired glucose tolerance	0.3848472003637631	0.2371792836843459	0.8125177070629055	1.0	1.0	5	P02545	1
Constipation	0.2599713191618873	0.2370574359998553	0.8126122323952227	1.0	1.0	84	Q13423,Q9UGU0,P55795,P00403,Q7LGA3,Q03164,P61978,P21964,P46100,P37268,P42892,Q8N3U4,P20700,P03915,Q03252	15
Abnormal peripheral nervous system morphology	0.3157658949798861	0.2357325620125364	0.813640201005208	1.0	1.0	156	P06753,P00403,Q15067,Q9NR77,O15121,O95831,P00846,O75381,P56589,P22626,Q8IV08,P02545,Q969G3,P03915,P48651,P07602,Q6DKK2,P41440,Q9BPX6,Q92734,P35637,Q96BR5,P46100,Q9BQT8,P17480,P20700,P09651	27
Impaired vibratory sensation	0.3264627147522718	0.2341939402573123	0.8148344192000634	1.0	1.0	28	P00846,Q9NR77	2
Short clavicles	0.3545027839234639	0.2340178383285687	0.8149711301483527	1.0	1.0	9	P02545,O75431,O75844	3
Adrenal hyperplasia	0.3874662796557894	0.2316944825248986	0.8167753170973973	1.0	1.0	6	P17252	1
Leukocytosis	0.3239909228547223	0.2314061172339539	0.8169993132601538	1.0	1.0	27	Q6UN15,P00813,O14936,Q03252	4
Tube feeding	0.3227687373750757	0.2252932257700237	0.8217511692729191	1.0	1.0	61	Q15233,P07602,P06753,P37268,Q92734,P61978,O15121,P35637,Q96N66,Q01105,P17480,Q08J23	12
Dental crowding	0.3108282387621955	0.2227692278992579	0.8237151187812692	1.0	1.0	22	Q15233,O75431,O75844,P06753,P36543,P02545,Q01105	7
Preaxial polydactyly	0.3424872932937073	0.2215974292047574	0.8246272839413298	1.0	1.0	10	O43924,O96028,P49454,Q9H3P2	4
Anophthalmia	0.3423432998410263	0.2210591952140449	0.8250463417663325	1.0	1.0	10	Q8NAT1,P53701	2
Vocal cord paresis	0.418733681462136	0.2190364285198032	0.8266216708465697	1.0	1.0	4	P36776,P43243,Q8TB36	3
Abnormal autonomic nervous system physiology	0.3267974085137881	0.2170115680961929	0.8281993297227939	1.0	1.0	30	P42892,P07602,P41440	3
Encephalocele	0.3315176399210615	0.2142015666132566	0.8303898744543794	1.0	1.0	11	Q10713,Q13428	2
Ankle flexion contracture	0.3158768545305519	0.2136201866812946	0.8308432560626036	1.0	1.0	14	Q5JTV8,Q96AY3	2
Testicular atrophy	0.4164490861618848	0.2135447181572523	0.8309021133457803	1.0	1.0	4	Q9NX24,P00492,P04637	3
Abnormal oral frenulum morphology	0.3154344510376838	0.2117880744374671	0.8322723727082555	1.0	1.0	14	P17252,O75844	2
Paranoia	0.3753812015002282	0.2112945967952536	0.8326573988846613	1.0	1.0	5	P50336,P36551	2
Type ii diabetes mellitus	0.3285811221346564	0.2097370078525166	0.8338729397998097	1.0	1.0	32	P00403,P02545,P03915	3
Intestinal atresia	0.3299500337392699	0.2082894637045214	0.8350029579864593	1.0	1.0	11	P49454,O14974	2
Myelofibrosis	0.4880180101188419	0.2056029867643018	0.8371010442727806	1.0	1.0	3	P04637	1
Soft tissue sarcoma	0.3245685671386529	0.205245308600956	0.8373804717257953	1.0	1.0	30	Q13126,Q15392	2
Abnormal enchondral ossification	0.3121666574147025	0.2046414896315297	0.8378522372860886	1.0	1.0	24	O96028,P40855,O75381,Q14739,P56589,Q96HY6	6
Tapered finger	0.3331009138567286	0.2022416128698198	0.8397278428443233	1.0	1.0	37	Q9NSE4,P23786,Q06136,Q03164,P46100,Q96EK5,P42892,Q03252	8
Pseudobulbar paralysis	0.3663148483429252	0.2022329147508404	0.8397346424558692	1.0	1.0	7	Q15233	1
Aplasia hypoplasia of the eyebrow	0.3362508305217799	0.2019143888713429	0.839983653061622	1.0	1.0	43	O75431,Q9BX10,P00813,O75844,P41227,P61978,Q96EK5,P02545,Q00577,Q8WVM7,Q8N3U4,Q08J23,Q07954	13
Proportionate short stature	0.3254995097101648	0.2014729750005386	0.8403287589824477	1.0	1.0	31	Q9Y619,Q15392,P53701,P10619,Q9H173,Q16836,Q5JRA6,P16278,Q14739,Q96HY6,P48651	11
Talipes equinovarus	0.296381148969781	0.200296483214946	0.8412487128095831	1.0	1.0	70	Q9Y5S9,Q9Y619,Q8TB36,P06753,P21964,Q96A33,Q969X5,Q9NR77,P61978,Q8TD16,Q8NI60,Q15392,Q9Y487,P10412,P16435,Q8TAA9,Q96AY3,Q9HD42,Q9BX10,P36543,O96028,P46100,P98175,Q9NWM8	24
Emg neuropathic changes	0.3110903050983915	0.1993087259074773	0.8420212538200071	1.0	1.0	24	P07602,Q9NR77	2
Cutaneous photosensitivity	0.3085956857057954	0.1991087920285598	0.8421776438825563	1.0	1.0	23	Q15126,P37268,P22830,Q06136,Q14108,Q08J23	6
Amelogenesis imperfecta	0.4088934639947077	0.1958855906435736	0.8446997157810494	1.0	1.0	4	Q6P4Q7	1
Erythroid hyperplasia	0.4069843342036539	0.1915472757631	0.8480968454520295	1.0	1.0	4	O75533,P06132,Q86SX6	3
Chronic axonal neuropathy	0.6513372472276523	0.1909530244309298	0.8485623969273104	1.0	1.0	2	P04792	1
Abnormality of the basal ganglia	0.2568630650388557	0.1906503576486485	0.8487995340315915	1.0	1.0	85	P23786,P00403,O95831,P00846,Q96N66,Q8NI60,P03915	7
Periventricular cysts	0.367299986604494	0.1902959352322114	0.8490772386711001	1.0	1.0	5	O96028,P11177	2
Abnormal number of granulocyte precursors	0.6506849315068408	0.1898797333301924	0.8494033740056706	1.0	1.0	2	Q07020	1
Neoplasm of the small intestine	0.3718750461040406	0.1876170348355292	0.8511768715145132	1.0	1.0	6	P02545,P78549	2
Abnormality of head blood vessel	0.3108549589560578	0.1865841623917934	0.851986685252059	1.0	1.0	25	P07602,P10619,P21964,P00846,P03915,P48651	6
Abnormal urine magnesium concentration	0.6480756686236052	0.1856267007106657	0.852737513325361	1.0	1.0	2	P05023	1
Writer s cramp	0.6480756686236052	0.1856267007106657	0.852737513325361	1.0	1.0	2	Q9ULV3	1
Hypocalciuria	0.6480756686235978	0.1856267007106538	0.8527375133253703	1.0	1.0	2	P53680	1
Hypermagnesemia	0.6480756686235978	0.1856267007106538	0.8527375133253703	1.0	1.0	2	P53680	1
Poor gross motor coordination	0.4765639327393117	0.1826561529270154	0.8550678217603795	1.0	1.0	3	Q9Y5P6	1
Neoplasm of the breast	0.3120580997336818	0.1814263903186065	0.8560329061062717	1.0	1.0	26	P48735,P11802,P46100,P02545,O75874	5
Abdominal aortic aneurysm	0.4017624020887808	0.1799394103407372	0.8572001351551792	1.0	1.0	4	O15460,P31153,Q96MF7	3
Aortic dissection	0.4017624020887803	0.1799394103407364	0.8572001351551799	1.0	1.0	4	O15460,Q02809,P31153	3
Spastic dysarthria	0.3467320261437931	0.1776538522470702	0.8589948291945433	1.0	1.0	8	O94905,Q9H2M9,Q96GW9,Q86SX6,Q9Y4W6,Q8WVX9,O14802	7
Coarse hair	0.2937430405187254	0.1721448952307286	0.8633236182631068	1.0	1.0	17	Q9Y276,P36543,Q9Y487,P54802,P15586	5
Anorexia	0.3074360087937503	0.1700315303161524	0.8649853400766871	1.0	1.0	25	Q13423,P46100,Q14108,Q6UN15	4
Abnormality of the nasal tip	0.2674275512200074	0.1691538908621688	0.8656755968316887	1.0	1.0	100	O75431,O14936,P21964,P98172,Q13868,Q00577,P42892,Q9UGU0,O75844,Q03164,P61978,O95831,Q96EK5,P17252,Q8N3U4,P23786,Q7LGA3,P16435,P02545,P10586,Q969G3,P46100,P38159	23
Pelvic girdle muscle weakness	0.3437364474660128	0.1676897090870487	0.8668273925058632	1.0	1.0	8	O14979	1
Ophthalmoparesis	0.2793151456078768	0.1659497330884726	0.8681965087224002	1.0	1.0	74	Q5U5X0,Q9BPX6,P00403,Q8N183,P06753,P00846,Q9P0J0,Q969G3,P03915,Q10713,Q96CU9	11
Abnormality of endocrine pancreas physiology	0.395003206994331	0.1654827709136153	0.8685640096926541	1.0	1.0	4	P53985	1
Abnormal rib cage morphology	0.2861008559165895	0.1651944091262528	0.8687909656815571	1.0	1.0	72	O75431,Q9Y5S9,P00813,P54802,P98172,P16278,O75844,P41227,Q03164,P15586,Q14696,O95831,P17252,Q14739,P16435,P02545,Q8TAA9,Q32P28,O75718,Q96HY6,P48651,O96028,O60826	23
Abnormality of thalamus morphology	0.2918874518025225	0.1641400379718713	0.8696209034838878	1.0	1.0	17	Q969G3,Q9UPT5,Q9Y5P6	3
Localized osteoporosis	0.6340508806262133	0.1638685871321887	0.8698345966089369	1.0	1.0	2	P57740	1
Rib fusion	0.3528980510960193	0.1618339666504015	0.871436604086562	1.0	1.0	7	O96028,O95202,Q9H3P2	3
Ileus	0.4651778014325559	0.1613862620224342	0.8717891861598217	1.0	1.0	3	P50336	1
Vocal cord paralysis	0.2894557964502361	0.1612331377214876	0.8719097824174828	1.0	1.0	19	Q9BTV4,Q8TB36,P50402,Q9NR77,P02545,P21912	6
Hyperphosphatemia	0.4636215334420823	0.1585996962168119	0.8739842681501027	1.0	1.0	3	P29992,Q15813	2
Adrenocortical carcinoma	0.4636215334420702	0.1585996962167905	0.8739842681501195	1.0	1.0	3	P25054,P04637	2
Abnormality of the extraocular muscles	0.4632952691680101	0.1580191996102279	0.8744416696901123	1.0	1.0	3	P43243,Q9BVA1	2
Abnormality of lower limb epiphysis morphology	0.2983690490232935	0.1573225296419146	0.8749906652601585	1.0	1.0	15	O95831	1
Facial edema	0.3021289488835836	0.1563592285530348	0.8757498727396782	1.0	1.0	24	Q8NFH4,P28070,O43707,Q9BW27,O00170,Q14331,Q8WUM0,Q14C86,Q8N1F7,Q12769	10
Abnormal duodenum morphology	0.3064153215882544	0.1560030029483272	0.8760306541936784	1.0	1.0	12	P98175,P49454	2
Abnormality of the nasal skeleton	0.3530147587870918	0.155751513864969	0.8762288904171485	1.0	1.0	5	Q6NUK1,O14974	2
Abnormality of cardiovascular system electrophysiology	0.2718584343886465	0.1553582183071405	0.8765389211304213	1.0	1.0	107	P07602,P23786,P00403,P50402,P46100,P00846,O75381,P42892,P56589,P03915,O43772	11
Eeg with focal spikes	0.4616639477977116	0.1551359383521969	0.8767141504411855	1.0	1.0	3	P36776,O75503	2
Hyperglycemia	0.3319665287190447	0.1550198226035292	0.8768056900351167	1.0	1.0	9	P02545,O75844	2
Abnormal peripheral nervous system physiology	0.3270939133318886	0.1542610158678473	0.8774039341617037	1.0	1.0	50	Q9Y619,P07602,Q9NR77,Q92734,O15121,O95721,O95831,Q9UBB4,P02545,P07196,Q9Y6X9,P20700,Q9GZY8	13
Broad columella	0.3870937629853916	0.1493913094642162	0.8812448688245329	1.0	1.0	4	Q13868	1
Moderately reduced visual acuity	0.4580750407830245	0.1489056595360067	0.8816280753422303	1.0	1.0	3	O00429,O60313	2
Connective tissue nevi	0.6223091976516526	0.1470808385644586	0.8830682139944319	1.0	1.0	2	Q6NUK1	1
Cutaneous finger syndactyly	0.622309197651649	0.1470808385644538	0.8830682139944357	1.0	1.0	2	Q9Y619	1
Vitreous floaters	0.4567555956007859	0.1466541952594758	0.8834049744687598	1.0	1.0	3	P04439	1
Dysplastic corpus callosum	0.3036864818968023	0.1465424623191428	0.8834931716209564	1.0	1.0	12	Q15233,O14974	2
Lower limb spasticity	0.2621645955186302	0.1458861582980024	0.8840112587578057	1.0	1.0	78	Q9H6K4,P10809,P07602,Q6DKK2,P35637,P46100,O95831,P00846	8
Choreoathetosis	0.3189463375647566	0.1447489276711625	0.8849091072271345	1.0	1.0	34	Q9H6K4,P10809,O14936,P00846,Q9P0J0	5
Cavernous hemangioma	0.3844647519582303	0.1442416230101607	0.8853096741804869	1.0	1.0	4	P21912,P36507,Q02750	3
Abnormal basal ganglia mri signal intensity	0.3123030537962359	0.1434019901047334	0.885972711343574	1.0	1.0	30	Q9BPX6,Q8N183,P00846,Q8NI60,P03915,Q96CU9	6
Hyperlipidemia	0.3122807424075389	0.1432941798298849	0.8860578522220255	1.0	1.0	30	O75431,P28070,Q9BTV4,P50402,O75844,P22830,P23786,Q92734,P02545	9
Respiratory paralysis	0.4541657021010187	0.1422960079445543	0.8868461996400703	1.0	1.0	3	P50336	1
Porphyrinuria	0.4541657021010187	0.1422960079445543	0.8868461996400703	1.0	1.0	3	P50336	1
Elevated urinary dicarboxylic acid level	0.4541657021010187	0.1422960079445543	0.8868461996400703	1.0	1.0	3	P50336	1
Elevated urinary delta aminolevulinic acid	0.4541657021010187	0.1422960079445543	0.8868461996400703	1.0	1.0	3	P50336	1
Retinal hemorrhage	0.3541676286563063	0.1422268131152405	0.8869008532698803	1.0	1.0	6	P36543	1
Color vision defect	0.2866101758237301	0.1419752620668097	0.8870995457368258	1.0	1.0	17	Q9H6K4,Q9H061,Q9Y4W6,Q6P4Q7	4
Bilateral cryptorchidism	0.3194487307459197	0.1409369791789025	0.8879197285387619	1.0	1.0	10	Q15233,O43924,P37268,P36543	4
Scaphocephaly	0.3825587939632329	0.1405706356424772	0.8882091472137121	1.0	1.0	4	P40855	1
Medulloblastoma	0.3523840627041105	0.1379425830479106	0.8902857956742791	1.0	1.0	6	P25054,P35222,Q12824,O60934,P04637	5
Abnormal femoral neck morphology	0.3209113456403863	0.1364817322061335	0.8914404650016403	1.0	1.0	37	O75431,O75844,P46100,O95831,P02545,Q96AY3,Q96HY6	7
Abnormal qt interval	0.3260493221513891	0.1359632691068585	0.8918503182678843	1.0	1.0	9	Q16836,Q9Y5P6	2
Macular thickening	0.3436785364260074	0.1359117169658149	0.8918910726303846	1.0	1.0	7	P04439,P25054,Q8WWY3,P35222,P36405,P50213	6
Long hallux	0.3792428198433468	0.1343091751645675	0.8931580982482941	1.0	1.0	4	O60762,P10644,P52788	3
Lambdoidal craniosynostosis	0.4490932700916138	0.1339950807588738	0.8934064643421049	1.0	1.0	3	P61978	1
Acquired abnormal hair pattern	0.3424648888366719	0.1326148471097296	0.8944979898414669	1.0	1.0	7	O75844	1
Telangiectasia	0.3150431716302846	0.1324287440890896	0.8946451803946622	1.0	1.0	33	P00846,Q8IZA0,P03915	3
Neoplasm of the skeletal system	0.3210588354770149	0.1321932515679076	0.8948314387469543	1.0	1.0	38	Q13126,P48735,Q92804	3
Malignant neoplasm of the central nervous system	0.28856238248339	0.1314289402834375	0.8954359961877434	1.0	1.0	21	P48735	1
Increased susceptibility to fractures	0.3226815547267695	0.1305534704976667	0.8961285527467113	1.0	1.0	51	P48735,P22626,P06753,Q14696,P16435,Q13126,Q32P28,Q96AY3,P17252,Q14108,O75718,Q14739,P09651,O75874	14
Dysphagia	0.284337032912769	0.1289454040968748	0.8974008492618193	1.0	1.0	126	P06753,Q96CV9,Q01105,Q14108,Q15067,Q15233,Q9NR77,Q03164,P15586,P00846,Q8IZA0,Q86U42,O75874,Q8N3U4,P48735,P03915,Q9HD42,P07602,Q8N183,Q92734,O15344,P35637,O15118,P17480,P20700	25
Abnormal circulating phenylalanine concentration	0.4456769983686768	0.1285795868414764	0.8976903195494281	1.0	1.0	3	P61457,P09417	2
Abnormality of peripheral nerves	0.3239040113061999	0.1280752800510695	0.8980893985787897	1.0	1.0	46	Q9Y619,P07602,Q9NR77,Q92734,O15121,O95721,O95831,Q9UBB4,P02545,P07196,Q9Y6X9,Q9GZY8	12
Reduced forced expiratory volume in one second	0.6076320939334512	0.1279127563356364	0.8982180158808164	1.0	1.0	2	O95453	1
Sclerosis of skull base	0.4451755761343777	0.1277965865651587	0.8983099514409292	1.0	1.0	3	P48651	1
Increased megakaryocyte count	0.4427406199021066	0.1240373779578908	0.9012856802389456	1.0	1.0	3	O75533,P04637	2
Progressive visual field defects	0.6030658838877891	0.1223562318298075	0.9026168999326458	1.0	1.0	2	P35222	1
Abnormal circulating carboxylic acid concentration	0.2539950168357459	0.1203170400134806	0.9042320061890164	1.0	1.0	89	P48735,P55263,O14936,P23786,P41440,O96000,P37268,P00846,P22695,O14874,Q16134,Q9P0J0,P40855,Q9NSD9,P03915	15
Glossoptosis	0.3373723709539209	0.1190797809908125	0.905212149185766	1.0	1.0	7	P98175	1
Abnormality of periauricular region	0.2825240061940757	0.1182254506261255	0.9058890246872472	1.0	1.0	20	O96028,P61978,Q07954,Q8N3U4,O60826,Q13428	6
Preaxial hand polydactyly	0.3438347846667547	0.1181576782176359	0.9059427228711648	1.0	1.0	6	O96028,Q9H3P2	2
Positional foot deformity	0.2545610384380216	0.1173805123424936	0.9065585262065016	1.0	1.0	90	Q9Y5S9,Q9Y619,Q8TB36,P06753,P21964,P07196,Q96A33,Q969X5,Q9H267,Q9NR77,Q9NVI7,P61978,Q8TD16,Q8NI60,Q15392,Q9Y487,P10412,P16435,Q8TAA9,P02545,Q96AY3,Q9HD42,Q9BX10,P36543,O96028,P46100,P98175,Q9NWM8	28
Prominent nasal bridge	0.3219659562492027	0.1173505330303999	0.9065822820575782	1.0	1.0	47	Q15233,O14936,P21964,Q96EK5,Q8WVM7,P42892,P49454,P20700,Q10713	9
High narrow palate	0.3102934041813022	0.1171302893077918	0.906756807538168	1.0	1.0	32	Q15233,P23786,P06753,P61978,P16435,O60826,P48651	7
Meningocele	0.3118725570639526	0.116961835545384	0.906890296669447	1.0	1.0	10	P21964,Q10713,Q9Y5P6	3
Abnormal protein glycosylation	0.2755606324094741	0.1151828168728294	0.9083002181700788	1.0	1.0	18	Q15904,Q2TAA5,Q9Y487,P36543,Q8N511,Q9Y2V7	6
Progressive	0.2650056102087491	0.1150621933207671	0.908395826180458	1.0	1.0	103	P54802,Q15043,Q13126,O75477,Q9Y6M9,Q03252,P15586,O15121,O95831,Q86U42,P28288,P10809,P02545,Q8N1F7,Q12769,Q5U5X0,P55263,Q8N183,Q9Y4W6,Q9NR28,P20700	21
Multiple joint contractures	0.2811829463108304	0.1126626780985339	0.9102979913678124	1.0	1.0	20	P41440,O75844,Q15043,P02545,Q9Y5P6	5
Streak ovary	0.3406270411495737	0.1110580964359014	0.9115702773196696	1.0	1.0	6	P82650,O14974,O75616,P51809,P57740	5
Thyroid carcinoma	0.28582386039593	0.1105468210854238	0.9119757195246389	1.0	1.0	15	Q8TAQ2,Q92785,P21912,Q969G3,P04637	5
Branchial anomaly	0.3173975284549951	0.1094503279504394	0.9128453175470445	1.0	1.0	9	P61978	1
Lipodystrophy	0.3085027887047566	0.108704095623181	0.9134371932713716	1.0	1.0	32	O75431,P28070,Q9BTV4,P50402,O75844,P02545,Q03252	7
Malar prominence	0.4319738988580709	0.1082695812727179	0.9137818513724252	1.0	1.0	3	Q9Y4W2,Q96MF7	2
Abnormal adipose tissue morphology	0.3133203784909055	0.1080013692559279	0.9139946060554468	1.0	1.0	57	O75431,P28070,Q9BTV4,Q2TAA5,O75844,Q9Y487,P41227,P50402,P36543,P02545,P17252,P53680,P03915,Q9BUK6,Q03252	15
Severe varicella zoster infection	0.4306688417618191	0.106452592178338	0.915223267564922	1.0	1.0	3	Q9H0U3,P17812	2
Reduced antigen specific t cell proliferation	0.4306688417618184	0.1064525921783369	0.9152232675649228	1.0	1.0	3	Q96MG7,P17812	2
Abnormal t cell proliferation	0.4306688417618184	0.1064525921783369	0.9152232675649228	1.0	1.0	3	Q96MG7,P17812	2
Hypopigmented skin patches	0.2851278287117773	0.1048746293266971	0.9164752907941144	1.0	1.0	22	Q8IZA0	1
Shoulder girdle muscle atrophy	0.3610518169355202	0.1028007228391376	0.9181211315631004	1.0	1.0	4	P06753	1
Neuroendocrine neoplasm	0.2896601052906629	0.1010078258708268	0.9195442478053356	1.0	1.0	12	P46100	1
Polygenic inheritance	0.3258243552073185	0.0994663416169481	0.9207680108401644	1.0	1.0	5	P35658,P04637,P11274,O60934	4
Temporal optic disc pallor	0.5799086757990742	0.0970735015510169	0.9226680241568116	1.0	1.0	2	O60313	1
Morning glory anomaly	0.5799086757990742	0.0970735015510169	0.9226680241568116	1.0	1.0	2	O60313	1
Broad philtrum	0.2964475567334825	0.0955176722119644	0.9239036540411624	1.0	1.0	11	Q92785,Q969G3,Q8TAQ2	3
Abnormal echocardiogram	0.4188632983291087	0.0909316697000936	0.9275468856455455	1.0	1.0	3	P49748	1
Paralysis	0.3169612120965437	0.0897434848719302	0.9284910594056928	1.0	1.0	48	Q15233,Q9NR77,P50402,P50995,Q96CV9,P35637,P02545,P20700,Q92804,Q15165	10
Hammertoe	0.2730722953487045	0.0893644760945187	0.928792254451594	1.0	1.0	17	Q9NR77	1
Skin appendage neoplasm	0.3521540469973944	0.0891357457587238	0.9289740294392748	1.0	1.0	4	P25054,P43246,P35222	3
Spastic paraparesis	0.2685054028044127	0.0874226142628612	0.9303355946103512	1.0	1.0	18	Q6DKK2	1
Abnormality of the epiphyses of the distal phalanx of finger	0.569145466405726	0.0869166867598756	0.9307377355997696	1.0	1.0	2	P82673	1
Scaling skin	0.3169756711163969	0.0865588257838183	0.9310221952734028	1.0	1.0	8	O75844	1
Stenosis of the external auditory canal	0.328572208848191	0.0859783123030964	0.9314836576488166	1.0	1.0	6	O96028,P16435	2
Bruising susceptibility	0.3002287323495166	0.0793226593876204	0.9367759835011312	1.0	1.0	31	Q13126,P46100,Q9NWM8	3
Unsteady gait	0.3138812741643024	0.0779045287316023	0.9379039969552484	1.0	1.0	51	Q5JRX3,O95831,Q10713,Q9NR77	4
Abnormality of fundus pigmentation	0.3433420365535328	0.0767195584758831	0.9388466449831308	1.0	1.0	4	P25054,Q9Y619,P38435	3
Cystoid macular edema	0.3433420365535244	0.0767195584758717	0.93884664498314	1.0	1.0	4	P04439,P36405,P50213	3
Genital neoplasm	0.3011098181400724	0.075213070593699	0.9400451849823476	1.0	1.0	32	O75874,Q13423,P48735,P02545	4
Abdominal obesity	0.4052889915010177	0.0750853802992784	0.9401467798177112	1.0	1.0	3	O00170	1
Ulnar deviation of the wrist	0.4046994763059318	0.0744445780009952	0.940656639069946	1.0	1.0	3	P16435	1
Neoplasm of the oral cavity	0.2884096856338066	0.07260584942979	0.9421197718367028	1.0	1.0	11	Q969G3	1
Megalencephaly	0.4009787928221775	0.0704894790209355	0.9438040742460188	1.0	1.0	3	O00459,P52788	2
Hiatus hernia	0.3085210577864892	0.070235360891994	0.9440063298862726	1.0	1.0	5	Q8NBU5,P54886,Q8WUM0,P57740	4
Scarring alopecia of scalp	0.5485975212002437	0.0701682407312694	0.9440597522234386	1.0	1.0	2	Q15149	1
Sparse eyebrow	0.3014844050176505	0.069311579809074	0.944741608551493	1.0	1.0	33	O75431,Q9BX10,O75844,P41227,P61978,Q96EK5,P02545,Q00577,Q8N3U4,Q08J23,Q07954	11
Microscopic hematuria	0.336879589847851	0.0683093583576648	0.9455393746397452	1.0	1.0	4	Q03252	1
Micronodular cirrhosis	0.3188770725111438	0.0676557531446718	0.946059672437178	1.0	1.0	6	P11717,Q9NWH9,P04637	3
Deep philtrum	0.2726591612686871	0.0667042200720216	0.946817174665506	1.0	1.0	15	Q7LGA3,Q00577	2
Vaginal fistula	0.3183206706963882	0.0666543048823511	0.9468569127861168	1.0	1.0	6	Q13428	1
Urogenital fistula	0.3183206706963882	0.0666543048823511	0.9468569127861168	1.0	1.0	6	Q13428	1
Aplasia hypoplasia of the 5th finger	0.2748014667440828	0.0664532931234665	0.947016942154352	1.0	1.0	14	Q92785,Q969G3,O14497,Q8TAQ2	4
Headache	0.2973518934406916	0.0657697829608444	0.9475611138340778	1.0	1.0	63	Q8NFH4,P06753,P00403,P23786,Q14C86,Q969G3,P00846,Q9NSD9,Q8N1F7,P03915,Q12769	11
Abnormality of the calf musculature	0.2663626046194532	0.0656585660519635	0.9476496606936888	1.0	1.0	17	Q8NAT1,Q9NR77	2
Bulbous nose	0.3103249254070454	0.0655389892671064	0.9477448641039355	1.0	1.0	41	O75431,Q9UGU0,P38159,P23786,P21964,Q96EK5,P42892,Q8N3U4	8
Urinary retention	0.3046270362320204	0.06435744136501	0.9486856166099892	1.0	1.0	5	P20700	1
Ankle clonus	0.2731780429369621	0.0616588417748648	0.9508345170763096	1.0	1.0	14	P07602	1
Generalized amyotrophy	0.2848159757337309	0.060774559970803	0.9515387510622828	1.0	1.0	26	P22626,P35637,P02545,P09651,Q03252	5
Sarcoma	0.3070139721685664	0.0602789279444148	0.9519334844869862	1.0	1.0	56	P48735,Q15392,Q13126,Q92804,O75874	5
Abnormally large globe	0.3068396595903306	0.0597558263227707	0.9523501081567152	1.0	1.0	8	O75431,O14936	2
Paraparesis	0.2790680426056893	0.0587917805999971	0.9531179552688795	1.0	1.0	24	P35637,Q6DKK2	2
Abnormal glial cell morphology	0.3066645575299268	0.0581442128531199	0.953633757177166	1.0	1.0	56	P48735,Q92734,P35637,O95831,P00846,Q16134,O75874,P20700,Q10713	9
Hand tremor	0.2828083215541875	0.0576402166006329	0.95403521469335	1.0	1.0	11	Q92734,Q96KR1	2
Decreased number of large peripheral myelinated nerve fibers	0.2994870626889804	0.0569862335273492	0.9545561613739424	1.0	1.0	5	P07196	1
Abnormal glycosylation	0.2726647149003736	0.0561611906614855	0.9552133977076428	1.0	1.0	22	Q15904,Q2TAA5,Q9Y487,P36543,Q9BT22,P46977,Q8N511,Q9Y2V7,Q8TCJ2	9
Lipid accumulation in hepatocytes	0.2847500614321356	0.0554183998604311	0.9558051373939264	1.0	1.0	68	O75431,Q15904,P22626,P55263,Q9NSD9,P23786,Q16836,Q16134,P02545,O43772,Q8N511,Q15067,Q03252	13
Abnormal prostate morphology	0.3115610711952912	0.0549209401311155	0.9562014492426248	1.0	1.0	6	P25054,P04637,O60934,Q92878,P49959	5
Hypoplastic aortic arch	0.5244618395303136	0.0545681298179341	0.9564825296332936	1.0	1.0	2	P30153	1
Foot oligodactyly	0.5228310502282936	0.0536598437031933	0.957206176763682	1.0	1.0	2	P25054	1
Impaired distal proprioception	0.5212002609262698	0.052768977176637	0.9579159796751692	1.0	1.0	2	Q6PI48	1
Dysmetria	0.3066791675805471	0.0522969830920764	0.9582920571731844	1.0	1.0	55	Q9BX10,Q8IV08,Q6DKK2,P41440,Q5JRX3,Q8N183,O14773,Q96BR5,O15121,P34897,Q9Y4W6,Q9UBB4,P20700,Q9BUK6,Q10713	15
Mediastinal lymphadenopathy	0.2953482831708793	0.0513674132966657	0.9590327509006562	1.0	1.0	5	Q01844,O15460	2
Weakness of muscles of respiration	0.2971559633046743	0.0506875993401441	0.9595744582405628	1.0	1.0	33	P22626,P50336,Q9BTV4,P06753,P50402,O95831,Q8TD16,P02545,P36551,Q15067,Q9Y6X9,P09651	12
Abnormal electroretinogram	0.2909191726560438	0.0485816526867991	0.9612526917329196	1.0	1.0	30	P00846	1
Glycosuria	0.2869330649081754	0.0477233423424436	0.9619367307961776	1.0	1.0	10	Q16134,P02545	2
Vitreous hemorrhage	0.2916129455947576	0.0465353941041771	0.962883524216756	1.0	1.0	5	P35222,O75533,Q99496	3
Esophageal carcinoma	0.3729200652528499	0.0454129530971851	0.963778156561488	1.0	1.0	3	P25054,Q8N9N2	2
Lack of skin elasticity	0.2653143479345373	0.0446726832349075	0.9643682075741532	1.0	1.0	15	P17252,O75844	2
Redundant skin	0.2717486721375147	0.0422123235647293	0.9663294385337212	1.0	1.0	23	P36543,Q9Y487,P41227,O96000,P48651	5
Trophic changes related to pain	0.4977168949771491	0.0417550860807124	0.9666939398772976	1.0	1.0	2	O15269	1
Penetrating foot ulcers	0.4977168949771491	0.0417550860807124	0.9666939398772976	1.0	1.0	2	O15269	1
Emg slow motor conduction	0.4977168949771491	0.0417550860807124	0.9666939398772976	1.0	1.0	2	O15269	1
Agammaglobulinemia	0.3667210440456758	0.0409355828540015	0.9673472501961368	1.0	1.0	3	O60220,Q8IWT6	2
Aplasia hypoplasia of the sacrum	0.3618270799347465	0.0376522123690455	0.9699649779588304	1.0	1.0	3	Q8TAA9,P39019	2
Noncompaction cardiomyopathy	0.3601091154788903	0.0365507112635041	0.9708432439575304	1.0	1.0	3	Q15233	1
Duplication involving bones of the feet	0.2610377937241269	0.0326604223129125	0.973945385459609	1.0	1.0	15	Q7Z4L5,P21964,O96028,O43924,Q14739,Q10713	6
Pilomatrixoma	0.3520391517128859	0.0317192620387682	0.9746959337293726	1.0	1.0	3	P25054,P35222	2
Abnormal larynx morphology	0.2769240089028544	0.0310577273119429	0.9752235021106	1.0	1.0	26	P07602,P36543,P21964,P16435,P02545,Q96HY6	6
Accelerated skeletal maturation	0.2799209275937634	0.0310255367993933	0.9752491740520643	1.0	1.0	10	O00170,Q03164	2
Congenital craniofacial dysostosis	0.463470319634689	0.0308894075503408	0.9753577374439252	1.0	1.0	2	Q6NUK1	1
Mild postnatal growth retardation	0.463470319634685	0.0308894075503399	0.975357737443926	1.0	1.0	2	Q9Y3E5	1
Muscle fiber tubular inclusions	0.298955613577031	0.0301166251400025	0.9759740418006972	1.0	1.0	4	O75340,Q9Y5P6,Q13586	3
Abnormality of the lymph nodes	0.2996919178160617	0.030090567719297	0.9759948231959126	1.0	1.0	38	P28070,P00813	2
Restlessness	0.3008253259548108	0.0300038090875205	0.9760640153271628	1.0	1.0	39	P50995,Q96CV9,P35637,Q92804,P42892,Q15165,P09651	7
Abnormal fundus autofluorescence imaging	0.4585779517286196	0.0297503098914876	0.9762661881675236	1.0	1.0	2	Q8WWY3	1
Abnormal 3rd finger morphology	0.4562948467057903	0.0292491301833077	0.9766658977565096	1.0	1.0	2	Q9Y3E5	1
Hypoplasia of the ear cartilage	0.3443276757652007	0.0276068858496926	0.9779756896460648	1.0	1.0	3	Q8WUM0	1
Striae distensae	0.2860009950672685	0.0275027255229646	0.9780587660179972	1.0	1.0	9	O00170,P17252	2
Cerebellar cortical atrophy	0.3440847336667881	0.0274849898800388	0.978072911666219	1.0	1.0	3	Q9H173	1
Hypopigmentation of the fundus	0.3432300163132085	0.0270597603632605	0.9784120695765935	1.0	1.0	3	Q9Y619,P38435	2
Medial flaring of the eyebrow	0.4386823222439404	0.0259731870538034	0.9792787248654105	1.0	1.0	2	Q96ST3	1
Hand polydactyly	0.2826996963820458	0.0252606974969806	0.979847022773498	1.0	1.0	29	O00459,O43924,P21964,O96028,P98172,P98175,Q14739,Q15067,O60826,Q10713	10
Bifid ribs	0.4099804305283648	0.0224602507700074	0.982080819285055	1.0	1.0	2	Q9UM00	1
Pace of progression	0.2955590744674326	0.0223337520084665	0.9821817253820636	1.0	1.0	155	Q5JTV8,P54802,Q15043,Q13126,O75477,Q14108,Q9P0J0,Q9Y6M9,Q03252,Q9NR77,P15586,O15121,O95831,Q86U42,Q10713,P28288,P10809,Q8IV08,P50402,P02545,Q8N1F7,O14979,Q12769,Q5U5X0,P55263,Q9BTV4,P41440,Q8N183,Q92734,O14773,Q96BR5,Q9Y4W6,Q9NR28,P20700	34
Abnormality of corneal stroma	0.2680539519509007	0.0222086114978899	0.9822815483038874	1.0	1.0	11	P34913,Q16625,P10619	3
Focal cortical dysplasia	0.4008480104370417	0.0217060534236115	0.982682434977761	1.0	1.0	2	Q8WUM0	1
Abnormal conus terminalis morphology	0.2891439672805199	0.0216499003366781	0.9827272281326956	1.0	1.0	6	O96028,O95202,Q9H3P2	3
Abnormality of chorioretinal pigmentation	0.2868604894361429	0.0215790977399952	0.9827837072367612	1.0	1.0	4	Q9Y619	1
Abnormal circulating glutamine family amino acid concentration	0.2683764977687496	0.0213497865351629	0.9829666289634044	1.0	1.0	5	O96000	1
Abnormal drinking behavior	0.3953033268101673	0.021315811417913	0.9829937310172928	1.0	1.0	2	Q8N5K1	1
Abnormal meningeal morphology	0.259427763457039	0.0212057229512417	0.9830815490551204	1.0	1.0	21	Q15904,P21964,Q10713,Q8N3U4,Q9Y5P6	5
Undetectable visual evoked potentials	0.3930202217873413	0.021168607821724	0.9831111559979684	1.0	1.0	2	Q8TC12	1
Corticospinal tract hypoplasia	0.3907371167645025	0.0210288166298727	0.9832226684086394	1.0	1.0	2	P11177	1
Generalized dystonia	0.385518590998039	0.0207355519849666	0.9834566087279748	1.0	1.0	2	O60220	1
Abnormal length of corpus callosum	0.3848662752772227	0.0207013380790365	0.9834839016168608	1.0	1.0	2	P11177	1
Pontocerebellar atrophy	0.3796477495107575	0.0204458797784283	0.9836876847177456	1.0	1.0	2	O60762	1
Deposits immunoreactive to beta amyloid protein	0.3789954337899459	0.0204161369895514	0.9837114110772672	1.0	1.0	2	O96008	1
Central primitive neuroectodermal tumor	0.3519243313763825	0.0195293396466302	0.9844188318497892	1.0	1.0	2	P04637	1
Germinoma	0.3519243313763815	0.0195293396466302	0.9844188318497892	1.0	1.0	2	P35222	1
Aplasia hypoplasia of the gallbladder	0.3506196999347637	0.0195006110779511	0.98444174956685	1.0	1.0	2	P18583	1
Pseudohypoaldosteronism	0.3365949119373755	0.0192506652035495	0.9846411400899078	1.0	1.0	2	Q9H4A3	1
Hyperchloremic acidosis	0.3365949119373755	0.0192506652035495	0.9846411400899078	1.0	1.0	2	Q9H4A3	1
Subsarcolemmal accumulations of abnormally shaped mitochondria	0.3118069145466382	0.0190015077899579	0.9848399025852088	1.0	1.0	2	P12235	1
Vertical nystagmus	0.3075668623613794	0.0189756783230044	0.984860507802992	1.0	1.0	2	P49959	1
Severe demyelination of the white matter	0.2824527071102367	0.0188822942343452	0.9849350041780668	1.0	1.0	2	Q9H9P8	1
Lop ear	0.2808219178082178	0.0188787749981862	0.984937811621828	1.0	1.0	2	P78318	1
White hair	0.2641201436500242	0.0175962941546435	0.9859609130564736	1.0	1.0	5	Q9NX24,P06748,Q9Y4I1,O95453	4
Abnormal dental root morphology	0.2641201436500224	0.0175962941546418	0.9859609130564748	1.0	1.0	5	Q9NX24,P06748,Q13045,O95453	4
Cutis laxa	0.275472292111027	0.0166988794140592	0.986676841135214	1.0	1.0	27	Q15904,Q9Y487,P36543,O96000,P41227,P48651	6
Impaired mastication	0.2894197399684945	0.0162769744613057	0.9870134268268348	1.0	1.0	7	P06753	1
Scrotal hypoplasia	0.2501825144646736	0.0152267889359316	0.9878512496575204	1.0	1.0	17	Q8TCJ2,P46100,Q13428	3
Skeletal muscle hypertrophy	0.3013590119833904	0.0139203885183531	0.9888934956199044	1.0	1.0	44	Q9NR77,P61978,P46100,Q8NAT1,Q10713	5
Pericarditis	0.258316973395542	0.0128768883290562	0.9897260135407464	1.0	1.0	5	O15460	1
Emg decremental response of compound muscle action potential to repetitive nerve stimulation	0.2988580750407851	0.0116702453443753	0.9906887027775289	1.0	1.0	3	O75340,Q9Y5P6	2
Response to drugs acting on neuromuscular transmission	0.2988580750407851	0.0116702453443753	0.9906887027775289	1.0	1.0	3	O75340,Q9Y5P6	2
Single fiber emg abnormality	0.2988580750407851	0.0116702453443753	0.9906887027775289	1.0	1.0	3	O75340,Q9Y5P6	2
Abnormal hypothalamus morphology	0.2901203111668656	0.0098962013037697	0.9921041026498568	1.0	1.0	3	O43924	1
Abnormal salivary gland morphology	0.2541630901331152	0.0097703991885356	0.9922044733625226	1.0	1.0	5	Q13428	1
Abnormal metaphyseal trabeculation	0.2640339425587541	0.0094748762172918	0.9924402556613804	1.0	1.0	4	Q9NX24,P06748,O95453	3
Oral leukoplakia	0.2640339425587541	0.0094748762172918	0.9924402556613804	1.0	1.0	4	Q9NX24,P06748,O95453	3
Neoplasm of the tongue	0.2847803332116927	0.0087265523990249	0.993037306943225	1.0	1.0	7	O43924,Q969G3	2
Food allergy	0.2584856396866878	0.0072254228685407	0.9942349968099626	1.0	1.0	4	Q9Y5S9,Q01082,O95394	3
Specific learning disability	0.2847601759189428	0.0065619647569211	0.9947643472059422	1.0	1.0	65	Q9H6K4,P48651,P22626,Q9BPX6,P00403,P35637,Q96EK5,Q8NAT1,P09651,Q9NSD9,P03915,Q10713	12
Anterior uveitis	0.2662316476345876	0.0065054228942822	0.9948094601222484	1.0	1.0	3	P14174,P01889	2