| term overlap setsize score pval overlap_mean setsize_mean score_mean pval_mean overlap_std setsize_std score_std pval_std pval_hit pval_50 pval_100 pval_250 pval_500 | |
| Episodic vomiting 5 12 2.635851206179772 0.0083926524376685 4.179611650485437 11.12378640776699 1.060494846441687 0.2663322982599159 1.9809215871966128 1.7630834730718608 1.1982900451883365 0.2840581402107739 0.0021959029308013 0.0096266028600564 0.0002069103237917 8.233120100309505e-05 0.0033138804057902 | |
| Abnormal metabolic brain imaging by mrs 2 16 2.6351670490214514 0.0084095884495831 4.606796116504855 16.54854368932039 0.7235353195513555 0.4019359214719802 2.5477483733613684 2.1144608015049493 1.0143737900681629 0.2966800307492503 0.2505865818805148 0.151306852499084 0.0420348553288257 0.0479498850625808 0.0807266025333323 | |
| Peripheral demyelination 5 16 2.5990167608093744 0.0093491208293898 4.524271844660194 16.973300970873787 0.9472740181618832 0.3208012027704231 2.3341893675900383 2.269845761985369 1.1784704386991718 0.3026863353342601 0.0406331695363963 0.0142466262053111 0.005693097574516 0.0128293519549119 0.0093317531476842 | |
| Abnormality of skeletal muscle fiber size 6 18 2.5446486316377355 0.0109387747392317 4.830097087378641 18.45873786407767 0.2407611222460276 0.6291204849759703 2.5751363410584807 2.4870043506239834 0.7636090550713877 0.3061714960533074 0.3232862655211961 0.1991580424676108 0.3593428278464597 0.0989248704147511 0.0062896490617296 | |
| Decreased activity of mitochondrial complex iv 2 15 2.524159395885758 0.0115975329709223 3.878640776699029 15.9247572815534 0.8034271187166634 0.3445303465767608 2.844656052218728 1.5238137800378977 1.1422119451186783 0.2970372577525856 0.0230610171400987 0.1263420182810564 0.0293903981750984 0.0291459656321865 0.1526461610854137 | |
| Postural tremor 7 18 2.521212465615094 0.0116951212853499 5.194174757281553 17.851941747572816 1.214872214945056 0.2487017685351703 2.341305968762478 2.2981463861426747 1.2391489410765593 0.2821199379659175 0.04460118378424 0.0157111699130222 0.0065760397653667 0.0025916473916576 0.0005666628036471 | |
| Abnormal muscle fiber morphology 25 67 2.5173476254011464 0.0118242102247569 17.78640776699029 68.04126213592232 1.263675841483234 0.3649599499596623 6.500784844979595 6.6307423444197315 1.1691802531751734 0.3853191125649093 0.0023452308383777 0.0010040849192341 0.0008922322980997 3.368811091598297e-05 1.0072359094766022e-05 | |
| Ragged red muscle fibers 4 16 2.5118656225242373 0.0120094809023758 5.233009708737864 17.730582524271846 1.450228655394427 0.2143723456093393 2.356374883616516 2.3878203593303375 1.2019998086948689 0.268108115907532 0.0003098306972201 3.4217420492902706e-05 3.289849409822126e-05 0.0023124348467711 0.0024204837857025 | |
| Amyotrophic lateral sclerosis 6 15 2.5033819004720392 0.0123012727201201 4.453883495145631 16.203883495145632 1.0855969203541704 0.3037117925086244 2.3812188822255287 1.5445439412417563 1.0118111691913367 0.2917679915833991 0.2938831434499784 1.0 0.327507803675052 0.0028945217060241 0.0032541181407787 | |
| Fatigable weakness of swallowing muscles 5 12 2.441869215302265 0.014611438849251 3.604368932038835 13.28640776699029 0.7350730209032469 0.4315977104446384 2.070664341544873 1.3796403459639466 0.8910590288568366 0.3148309196851129 0.2246782895314235 1.0 0.2518545844225215 0.0055331858379351 0.0027845492980534 | |
| Demyelinating peripheral neuropathy 4 17 2.436185797308642 0.0148430583193241 3.6189320388349513 16.41990291262136 0.8004175255851168 0.4261699448763591 1.908827430762096 2.446692237122478 0.9042326115295364 0.3171508979101954 0.004253327563809 0.0008441205885139 0.000509979222831 0.0023124348467711 0.0105883475769395 | |
| Abnormal circulating fatty acid concentration 5 19 2.432032388465032 0.0150143646452181 5.851941747572815 19.300970873786408 0.8709428538401427 0.3748768442629192 3.3070858195646933 2.246183176686473 0.9913820617853404 0.2893310559059322 0.0487065766207935 0.1835089509173778 0.0614247268920475 0.0004698927732866 0.0037452233271246 | |
| Abnormality of the mitochondrion 18 92 2.424019006815779 0.0153498020883295 24.216019417475728 91.8883495145631 0.797381253925538 0.4153343301115782 10.704523845407817 8.200885590005743 1.4941762160347407 0.3812617801525748 6.336073796512286e-05 0.0010323506100533 2.4284176709640346e-05 0.0001461318064328 0.0001094042281671 | |
| Fatigable weakness of bulbar muscles 6 14 2.402544683264221 0.0162814453244988 4.063106796116505 15.25242718446602 0.7188062683419271 0.4547422847838221 2.248170358195387 1.4859761696395852 0.8778510505210118 0.3261836450387849 0.2998630597214531 1.0 0.3339976348230559 0.0180565405233996 0.0037452233271246 | |
| Bulbar signs 6 13 2.401296211003717 0.016337106002165 4.888349514563107 12.016990291262136 1.527818207801298 0.1656113111527082 2.218011046873564 1.4803576942139227 1.2783367300196684 0.2344360472575242 0.2377412222279282 0.1430638950507344 0.0376249374527164 0.0069928111010265 0.0007105677029561 | |
| Fatigable weakness of respiratory muscles 5 13 2.3809793839096445 0.0172666782576467 3.781553398058252 14.49514563106796 0.6722462704336608 0.4649039538010518 2.229730602074667 1.5192856420985286 0.8723926977398212 0.3188845594433921 0.2756388514214415 1.0 0.3076603852203092 0.0128293519549119 0.0093317531476842 | |
| Central scotoma 3 11 2.322430236723564 0.0202097808151804 3.657766990291262 9.152912621359222 1.2790732929494344 0.2261272578521709 2.0233738200365714 2.077016218281829 1.2675536526802949 0.279373459017325 0.0215302168520532 0.1221118561195742 0.0021303683071518 0.0037492480554313 0.0397044670530444 | |
| Slow decrease in visual acuity 2 9 2.310513855348445 0.020859722360162 2.313106796116505 7.985436893203883 0.7332483742783148 0.3617245659278226 1.567733834853386 1.5547551717475598 1.083959755774155 0.2999488674407273 0.1910450323327887 0.1135912525516411 0.0237627189197599 0.0215683584236732 0.1188827437046941 | |
| Lacticaciduria 3 5 2.3105055700791444 0.0208601805188091 1.674757281553398 4.849514563106796 0.7129753583310345 0.3234768766519366 1.205184467740076 1.4436586333991552 1.2463576287305282 0.29112130721695 0.1193935721196182 0.0697581245313758 0.0088504827764808 0.0050923434600555 0.0048822579474643 | |
| Abnormal brain lactate level by mrs 1 10 2.274558081751784 0.0229324531362922 3.2354368932038833 10.37621359223301 0.6133108438052263 0.4407493118901905 1.9928041796535647 1.6827846873242345 0.9491177620779084 0.3058872918797134 0.1631035739222515 0.0963063052639835 0.0170518298819148 0.0901924811619011 0.2715157705871365 | |
| Abnormal csf protein level 5 11 2.252405190735073 0.0242966780065461 4.434466019417476 12.20631067961165 1.1239853500963992 0.2260559983233297 2.11400242863219 2.084072511592451 1.241935948510828 0.248039542652958 0.0425996474815294 0.01497108596825 0.0061250241039257 0.0140312853386763 0.0105883475769395 | |
| Progressive spasticity 2 16 2.246128256597287 0.0246957939100622 4.310679611650485 15.677184466019416 0.3665295652655519 0.4383580490709103 2.2099911092980777 1.5344471301085942 1.08331515350054 0.3117516214812866 0.0158597254610659 0.1049896535105009 0.0202898922491691 0.0172025832638257 0.0981468657129251 | |
| Symptomatic seizures 2 7 2.2363778621236925 0.0253270300148755 2.592233009708738 7.91747572815534 0.8003602116841944 0.3815595980603305 1.5434603237366336 0.6408318599381966 0.9316569091826736 0.2966211267450162 0.1487772667192279 1.0 0.1677870330809631 0.0101015401572799 0.0618109910728358 | |
| Segmental peripheral demyelination remyelination 2 5 2.2192737244467406 0.0264681080691948 1.6601941747572817 4.737864077669903 1.1231406516527276 0.2457358043386077 1.1021021225411718 1.375663406058269 1.1869683790120098 0.2709829643602553 0.0043932683594101 0.0014481500629001 0.0001778916397324 0.0025975272437437 0.018020673376298 | |
| Nasogastric tube feeding in infancy 3 7 2.2109277719571523 0.0270408391518237 3.0097087378640777 8.495145631067961 1.0003947416243104 0.2675726652756056 1.510449978803449 1.1668877069106371 1.1016283190777107 0.2724768109071007 1.0 1.0 1.0 0.154226710893935 0.0498364179528963 | |
| Mitochondrial respiratory chain defects 2 5 2.1995609591419165 0.0278380596657448 1.8033980582524272 5.177184466019417 1.0048180638921334 0.285673153216041 1.1353491002390874 1.0681459460620504 1.0953831291184488 0.2879410254685434 0.1268321491559422 0.0742352733278267 0.0100519320580488 0.0061570039439817 0.0397387250697101 | |
| Abnormal pupillary function 1 7 2.1964176641285 0.0280620624795848 1.7985436893203883 6.25 0.9459174425459445 0.2892194993230557 1.1928988171245156 1.7202745886032773 1.109204161812943 0.2732247962160634 0.231237178687498 0.1389130578490434 0.2590666885683055 0.1713585638073601 0.4482773855235765 | |
| Hemianopia 2 8 2.183963949424102 0.0289648972210454 2.0776699029126213 7.611650485436893 0.5790308557992101 0.4109966183023263 1.4034584217287485 1.4877037085527185 1.0055409588864108 0.2887898466516661 0.231237178687498 0.1389130578490434 0.0354914601129098 0.0379489226270714 0.1889957663081205 | |
| Chronic fatigue 1 5 2.173947984476314 0.0297090418084897 2.0800970873786406 7.354368932038835 0.6505903571445167 0.3551914870642563 1.248646642239502 1.3902068505046723 1.081635717396615 0.2816956203568134 0.1487772667192279 1.0 0.1677870330809631 0.0757571260003459 0.2348875720984273 | |
| Hypoketotic hypoglycemia 2 7 2.156056219649292 0.0310792755195308 2.3470873786407767 7.560679611650485 1.365087782487965 0.212332843161917 1.4324316558480732 0.6923349575659244 0.8002406012991511 0.2265642620801705 0.0036811661553703 0.0516364610584135 0.0047533286028597 0.001983278822638 0.0140126286640228 | |
| Xerostomia 5 14 2.145746440996137 0.031893213806831 4.225728155339806 15.218446601941748 0.9400183964262208 0.3676147626670514 2.1144482637513415 1.4041718405623504 0.8665256443899695 0.3037909474394171 0.269454491362586 1.0 0.3009165941166509 0.0116952906397438 0.0081853110588452 | |
| Hemiparesis 2 15 2.139042908937857 0.0324321934145357 4.492718446601942 16.453883495145632 0.5632847994166561 0.5250125610456521 2.3039529956499933 2.7457486053720115 0.80325121159606 0.3108877318797908 0.3993300711294241 0.2516504230112798 0.1132051672598368 0.1760149897618766 0.5628623106456782 | |
| Anterior rib cupping 1 5 2.1347987174903627 0.0327774551048078 1.0995145631067962 4.240291262135922 0.7580083586017852 0.4401791439408411 1.122280859436629 0.8606995983858212 0.9577037409012152 0.3293084857529619 0.0019051384851628 0.0006219606051344 0.002465796513642 0.0147480216610697 0.0542215392640632 | |
| Scotoma 3 14 2.120962358426254 0.0339249702239095 4.189320388349515 12.196601941747574 1.1271039056750725 0.2779036999445621 2.1128553643245884 2.0698220238662226 1.1901076059375446 0.2884356618441315 0.04460118378424 0.1755724648168266 0.0065760397653667 0.0153023562212604 0.0428945912137629 | |
| Hypoglycemic seizures 2 6 2.10973088808652 0.0348815423678332 2.4854368932038833 6.856796116504855 0.9058299307950756 0.3166741060128459 1.3942606188234674 0.5840745955687526 1.0191247609873073 0.2803355691671325 0.1043280169744231 1.0 0.1180585699575878 0.0033170374819039 0.0225979674873623 | |
| Abnormal larynx physiology 5 13 2.101229668283199 0.035620810231264 3.7694174757281553 14.78640776699029 0.7777362681295714 0.3936810823701626 2.010346212391085 1.51625807571557 0.9784109402665334 0.3028779878197117 0.2632179503957043 1.0 0.2941077913158182 0.0106277501006418 0.0071436537580251 | |
| Toe walking 7 21 2.10007870072486 0.0357219186159316 6.740291262135922 22.805825242718445 1.1386089770349623 0.3130572717722256 3.272869930973316 2.572476621751866 1.068544148592376 0.2998505070337083 0.3514786728450914 0.2183067054048652 0.3896854720293997 0.0341229578056568 0.0029392451780606 | |
| Hypothermia 2 10 2.0925855604256607 0.0363861666614633 2.4174757281553396 9.49271844660194 1.0856169578047503 0.2588610618328691 1.611694349619475 1.8201795996814751 1.0634596616937388 0.2538467530049644 0.0158597254610659 0.0053672672920639 0.0013262573806951 0.0172025832638257 0.0233101974365333 | |
| Bilateral sensorineural hearing impairment 7 26 2.075836008516164 0.0379091207749986 6.381067961165049 24.424757281553397 0.7447297270654177 0.4543730451773109 2.694462286764978 2.8252792093863337 0.8997615483176746 0.3241521581359238 0.3678335624003773 0.2295798469686227 0.0949012099695084 0.0018183768983854 0.0042301612836837 | |
| Distal peripheral sensory neuropathy 1 5 2.064742754109243 0.0389473469416925 1.4344660194174756 4.679611650485437 0.5764101798236201 0.4022081089263229 1.2299169031488042 0.9421478480744178 1.0445462753474666 0.3013565434873159 0.0966999925589776 0.0561990347849709 0.0056684159955205 0.032628233248221 0.1125747569923622 | |
| Basal ganglia calcification 1 7 2.049658103219721 0.0403978061737055 2.2063106796116503 7.344660194174757 0.7754851929382625 0.4050161590811829 1.490637115556397 1.3943873732460157 0.8989440633592655 0.3080162794814239 0.231237178687498 0.1389130578490434 0.0354914601129098 0.1713585638073601 0.4482773855235765 | |
| Positive romberg sign 2 7 2.039307755747812 0.0414193220817242 2.466019417475728 8.308252427184467 1.0733671875840938 0.3096488241780741 1.4485716699970723 1.6764009803624336 0.8283755892460324 0.2651507773538893 0.1193935721196182 1.0 0.1349531130589082 0.0050923434600555 0.0334620993119388 | |
| Temperature instability 3 8 2.0387498331484672 0.0414750014526494 2.563106796116505 8.077669902912621 0.5786926336202384 0.3539234625201496 1.6976277160735205 1.200237196527885 1.1389671471549596 0.2898062051573807 1.0 1.0 1.0 0.0757571260003459 0.0118865434534573 | |
| Abnormal circulating acetylcarnitine concentration 2 7 2.035258055644483 0.0418249142284994 1.7475728155339805 6.606796116504855 1.2739071869107932 0.2367430781797907 1.3686393682873708 0.7076231425197869 0.8717674578101685 0.2465605045996027 0.0043932683594101 0.0561990347849709 0.0056684159955205 0.0025975272437437 0.018020673376298 | |
| Myoclonic spasms 2 6 2.031114714902625 0.0422433590923863 1.8470873786407769 5.735436893203883 0.4111012021794172 0.4034071629491823 1.317697411431444 1.410916714116348 1.1149340295568837 0.2968871614008488 0.0158597254610659 0.1049896535105009 0.0202898922491691 0.0172025832638257 0.0981468657129251 | |
| Vitiligo 1 7 2.0303660933480177 0.042319340525865 1.75 6.893203883495145 0.5228034908965178 0.4514214081097454 1.549545815072826 0.7902638291080828 0.9503325655279016 0.3007892778972581 0.1701770965395962 0.1006582454154426 0.018640880521655 0.097689242801984 0.2898287915273368 | |
| Fluctuations in consciousness 1 7 2.0274950619844603 0.0426118089407578 2.871359223300971 7.104368932038835 1.0899440920546752 0.2545542015295898 1.680977263462837 1.481694234866534 1.1451509420956862 0.2733842157028129 0.1487772667192279 0.0875404472016038 0.014058804472369 0.0757571260003459 0.2348875720984273 | |
| Neoplasm of the adrenal cortex 1 5 2.009835603454338 0.0444485912102894 1.9029126213592231 5.502427184466019 0.279284275131131 0.3518731642920829 1.1804603603119783 0.9766665776615882 1.363400785954724 0.3120205744103949 0.1342086162653788 1.0 0.1515272625734178 0.0621585272883563 0.1985866733922443 | |
| Decreased plasma carnitine 2 11 1.9957521039141304 0.0459609125615008 3.1723300970873787 11.83252427184466 0.7810684853101371 0.3882846400262963 2.088319668218202 0.9846444515726572 0.9843631004473848 0.2877502083970994 0.0078149165881974 0.0742352733278267 0.0100519320580488 0.0061570039439817 0.0397387250697101 | |
| Basal ganglia cysts 1 7 1.966757731034684 0.0492111477480716 1.5436893203883495 6.509708737864078 0.6375864218957229 0.3423964855972016 1.553428397761971 0.5418441296142611 1.195152711044975 0.2990830010801169 0.0014367219615376 0.0331691185540615 0.0018609890552042 0.0112385866308786 0.0419919493306108 | |