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