| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Insidious onset 0.8565666505924503 3.0532511967936387 0.0022637635520266 0.999971765785926 1.0 6 Q9NR77 1 |
| Abnormal circulating methionine concentration 0.7927456367806025 2.772869549527879 0.0055564389914994 0.9999999999934626 1.0 6 Q6PGP7,P55263 2 |
| Nasogastric tube feeding in infancy 0.8025872829042745 2.7642877078756727 0.0057047214713896 0.9999999999967184 1.0 8 P61978,Q9NZJ7,Q92734,Q9UHX1,P06753 5 |
| Abnormality of endocrine pancreas physiology 0.7796010893040313 2.7137678667972516 0.0066522762554832 0.99999999999996 1.0 6 P53985,Q14739,O00330 3 |
| Axonal degeneration 0.7638303759168944 2.615668963415206 0.0089052848789195 1.0 1.0 7 Q8TB36,Q92734,Q6DKK2 3 |
| Supernumerary tooth 0.7539859263793582 2.597217244380463 0.0093982462533712 1.0 1.0 6 Q9UHX1,P62266,O60488,P21281 4 |
| Increased intramyocellular lipid droplets 0.7409574305430068 2.5372268512847125 0.0111734524465079 1.0 1.0 6 Q9Y4W6,P31040 2 |
| Increased cerebral lipofuscin 0.7408195153690826 2.5365892241764016 0.0111938213863991 1.0 1.0 6 Q13286,P50897 2 |
| Increased muscle lipid content 0.7567329363949237 2.53057057188979 0.0113877173833671 1.0 1.0 9 Q9Y4W6,P23786,P31040,P06753 4 |
| Cessation of head growth 0.744721029096194 2.527953436249337 0.0114729566988514 1.0 1.0 7 Q9NR50,Q05086 2 |
| Limb tremor 0.7378349839581797 2.5227774083544645 0.0116432074943555 1.0 1.0 6 Q9NR77 1 |
| High myopia 0.7519430844267111 2.5085400209202784 0.0121231234366181 1.0 1.0 9 Q9Y487,O15460,P38606,P30533 4 |
| Eeg with multifocal slow activity 0.7457104078003193 2.5060573549947356 0.0122085814241674 1.0 1.0 8 P38606,Q08209 2 |
| Psychomotor deterioration 0.7450000598565981 2.4764927751356067 0.0132680310370751 1.0 1.0 9 Q9NZJ7,Q9Y487,P38606,P50897,Q13286 5 |
| Capillary hemangioma 0.7148979401098556 2.388986499381186 0.0168949231909469 1.0 1.0 7 Q9UBM7,Q7LGA3,P16435,Q9UHX1,P21281 5 |
| Hyperactive patellar reflex 0.709353765147849 2.362870191292122 0.018134020138671 1.0 1.0 7 P13073 1 |
| Decreased circulating progesterone 0.699972521361172 2.34532023761387 0.0190107433919957 1.0 1.0 6 Q13144,Q9NR50 2 |
| Abnormal circulating progesterone level 0.699972521361172 2.34532023761387 0.0190107433919957 1.0 1.0 6 Q13144,Q9NR50 2 |
| Exaggerated cupid s bow 0.6995053801640833 2.343104665720148 0.0191240173620377 1.0 1.0 6 P61978,Q96KP1 2 |
| Redundant neck skin 0.7051369456006817 2.342946850067737 0.0191321083544568 1.0 1.0 7 Q9Y487,P38606,A1X283,Q9Y3D3 4 |
| Myopathic facies 0.7009181833108111 2.3229626399972108 0.0201811595333163 1.0 1.0 7 Q9Y5P4,O14908 2 |
| Macrogyria 0.6921339540400936 2.3080582075281804 0.0209958992405567 1.0 1.0 6 Q15392 1 |
| Hyperinsulinemic hypoglycemia 0.7033704631139057 2.307946170395893 0.0210021306463237 1.0 1.0 8 P53985,P00367,P40939 3 |
| Abnormality of the calcaneus 0.6860682345565555 2.279099387855676 0.0226611579065383 1.0 1.0 6 Q14739,P40939 2 |
| Hypoketotic hypoglycemia 0.6876510962612015 2.25977874023391 0.023834986507063 1.0 1.0 7 O43772,P40939 2 |
| Multiple enchondromatosis 0.6775295998244965 2.238150108394489 0.0252112679173024 1.0 1.0 6 P48735,O75874 2 |
| Abnormality of the umbilical cord 0.6827436395186391 2.2362769713615713 0.025333633957645 1.0 1.0 7 P16435,O75844 2 |
| Arterial thrombosis 0.6687212377184579 2.1956809768679144 0.0281147856953694 1.0 1.0 6 O15460 1 |
| Abnormal full field electroretinogram 0.6742838679235116 2.1955977527931103 0.0281207472375626 1.0 1.0 7 Q15067,P50897 2 |
| Abnormal light and dark adapted electroretinogram 0.6742838679235116 2.1955977527931103 0.0281207472375626 1.0 1.0 7 Q15067,P50897 2 |
| Hereditary nonpolyposis colorectal carcinoma 0.6747927818519558 2.1713203689005107 0.0299069636422064 1.0 1.0 8 P63167,O43683 2 |
| Abnormal circulating acetylcarnitine concentration 0.6687707386288781 2.1689748214465356 0.0300845955214636 1.0 1.0 7 O43772,P40939 2 |
| Goiter 0.6752965262818378 2.1472159813673044 0.0317760909859659 1.0 1.0 9 P48735,O75874 2 |
| Multiple prenatal fractures 0.667095844161176 2.134118913908078 0.0328330479997751 1.0 1.0 8 Q14739,Q32P28,P06753,Q8N9N2 4 |
| Hypoplasia of the musculature 0.653726588841878 2.122855634084889 0.0337659511690591 1.0 1.0 6 Q9Y487,Q9NR77 2 |
| Leiomyosarcoma 0.6633467895214689 2.1159366833093767 0.0343501929985419 1.0 1.0 8 P63167,O43683 2 |
| Overriding aorta 0.6567781988766261 2.11075542851084 0.0347933390015007 1.0 1.0 7 P53701 1 |
| Hypoglycemic seizures 0.6536212534186128 2.0953596553796197 0.0361390331008757 1.0 1.0 7 P53985,P40939,Q13423 3 |
| Vocal cord paresis 0.8566929035266521 2.084128981702324 0.0371484364770258 1.0 1.0 5 Q8TB36 1 |
| Abnormal circulating sulfur amino acid concentration 0.6618740840024233 2.082219920735679 0.0373223864971055 1.0 1.0 9 Q6PGP7,P41440,P55263 3 |
| Metrorrhagia 0.637895203621965 2.045243439525262 0.0408308638174665 1.0 1.0 6 P06748,P40763 2 |
| Neoplasm of the adrenal cortex 0.8462698449965529 2.0400596038466405 0.0413443895394631 1.0 1.0 5 O75874 1 |
| Abnormality of small intestinal villus morphology 0.6366529004131244 2.0391218020219095 0.0414378727915152 1.0 1.0 6 Q6PGP7 1 |
| Abnormal platelet volume 0.6436618536661605 2.019803765180084 0.0434037464492365 1.0 1.0 8 Q14739,Q6PGP7 2 |
| Epistaxis 0.6755116153183303 2.0184631725748052 0.043543045899328 1.0 1.0 14 P06748,P49257,O15460,Q86YV9,P10644,P40763,P38435 7 |
| Mesomelia 0.6357471606779643 2.007643382581892 0.0446812010368184 1.0 1.0 7 Q14739,P38919 2 |
| Hypokalemia 0.6323248367198913 1.9907426733579523 0.0465091846666632 1.0 1.0 7 O00170,Q01968,Q9UNF1,P05023 4 |
| Abnormal circulating aromatic amino acid concentration 0.6237927689379817 1.975484926930079 0.0482131434818957 1.0 1.0 6 P09417 1 |
| Hyperglycemia 0.6334667221958141 1.969578601537957 0.0488866860679595 1.0 1.0 8 O75844,O00330 2 |
| Equinovarus deformity 0.6249119231182901 1.954019107543458 0.050698957526724 1.0 1.0 7 P40939,Q9NR77 2 |
| Abnormal platelet morphology 0.6193784019669424 1.9535293201889088 0.0507569065179942 1.0 1.0 6 O75845 1 |
| Generalized hyperkeratosis 0.8258505303271513 1.9531900155244444 0.0507970837346003 1.0 1.0 5 O75844 1 |
| Perseveration 0.6143128537570337 1.928265112171409 0.0538221589434717 1.0 1.0 6 Q15233 1 |
| Fatigable weakness of bulbar muscles 0.6468804517933251 1.8790489015692968 0.060237816336206 1.0 1.0 14 Q9UHD9,O14908,P35637,O95292,P06753,Q99700 6 |
| Stomach cancer 0.6194566009269501 1.8734758484050356 0.0610027047709389 1.0 1.0 9 P54132,O43683 2 |
| Abnormality of the alveolar ridges 0.6076637063422924 1.867963785112055 0.0617671189723443 1.0 1.0 7 P98175,A1X283,Q15392,P21281 4 |
| Bladder neoplasm 0.6181222293354581 1.866828110244062 0.0619255956310642 1.0 1.0 9 P63167,O43683 2 |
| Rickets 0.6011663219585348 1.862352089191811 0.062553477704482 1.0 1.0 6 O43175 1 |
| Selective tooth agenesis 0.8042087296630896 1.8603714963281983 0.0628329845245798 1.0 1.0 5 P54132,Q12959,P38919 3 |
| Bone marrow hypercellularity 0.607731128076734 1.84149151596057 0.0655495627356497 1.0 1.0 8 P10644,P06748,P62263,P40763 4 |
| Hypermethioninemia 0.7992942762190179 1.8391908977481115 0.0658871130061136 1.0 1.0 5 Q6PGP7 1 |
| Biliary cirrhosis 0.6009077538294567 1.834028230042717 0.0666498037703378 1.0 1.0 7 Q9UJW0,P09601 2 |
| Symptomatic seizures 0.600695114442737 1.806154193620647 0.0708942576676807 1.0 1.0 8 P53985,P40939,Q13423 3 |
| Focal emotional seizure 0.6090247326857601 1.7949913382532074 0.0726550799872471 1.0 1.0 10 Q01105,P67870,Q08209,Q7L7X3 4 |
| Megaloblastic anemia 0.5978423445780454 1.7917884057427502 0.0731668667487532 1.0 1.0 8 Q99707,P41440,P00374 3 |
| Impaired glucose tolerance 0.585994715606831 1.785676422145707 0.0741516650932001 1.0 1.0 6 O00330,P02545 2 |
| Insulin resistant diabetes mellitus 0.59220362907982 1.763329289845157 0.077844968059267 1.0 1.0 8 P02545,O00330,O75844,P31751,P40763 5 |
| Hypocholesterolemia 0.6005244422279592 1.7523365073135555 0.0797159620672087 1.0 1.0 10 Q8NFG4,Q15800,Q9NZJ7 3 |
| Raynaud phenomenon 0.5842588298871907 1.7498634471004224 0.0801418793792692 1.0 1.0 7 O75792,Q14739,O75844 3 |
| Ecchymosis 0.6090704715622802 1.7430795600104396 0.0813197184658061 1.0 1.0 12 P06748,P40763,Q8NCH0,P38435 4 |
| Prominent nasolabial fold 0.5766422958597666 1.738092649641449 0.0821944898603121 1.0 1.0 6 Q9Y487,Q9UL01,Q8NCH0 3 |
| Abnormality of the nasolabial region 0.5766422958597666 1.738092649641449 0.0821944898603121 1.0 1.0 6 Q9Y487,Q9UL01,Q8NCH0 3 |
| Undetectable electroretinogram 0.5789337807599377 1.7227863546372917 0.0849271672646105 1.0 1.0 7 P50897 1 |
| Short nail 0.5734541981051114 1.7218179158385436 0.0851025080965253 1.0 1.0 6 O75844 1 |
| Xerostomia 0.612393668187956 1.7083662755344795 0.0875684007945722 1.0 1.0 14 Q9UHD9,Q14739,P35637,O95292,Q99700 5 |
| Enchondroma 0.5895250665136876 1.696868769172341 0.0897214736708966 1.0 1.0 10 O75792,P48735,O75874 3 |
| Abnormal number of incisors 0.5662469494500487 1.684926507987951 0.0920027515330883 1.0 1.0 6 P54132,Q12959 2 |
| Abnormal intraocular pressure 0.5711783515840025 1.6832182900157888 0.0923328413971154 1.0 1.0 7 Q9UL01,Q8NCH0 2 |
| Hemangiomatosis 0.969981807155852 1.676432181144843 0.0936535698487679 1.0 1.0 2 O75874 1 |
| Visceral angiomatosis 0.969981807155852 1.676432181144843 0.0936535698487679 1.0 1.0 2 O75874 1 |
| Lymphangioma 0.969981807155852 1.676432181144843 0.0936535698487679 1.0 1.0 2 O75874 1 |
| Proximal upper limb amyotrophy 0.5747447061935222 1.674685506984971 0.0939959524866296 1.0 1.0 8 P50402 1 |
| Abnormality of the musculature of the upper arm 0.5747447061935222 1.674685506984971 0.0939959524866296 1.0 1.0 8 P50402 1 |
| Central scotoma 0.5789757038488655 1.6697034572751903 0.0949780493924996 1.0 1.0 9 P03886,Q9H061,Q9H6K4,Q8WWV3 4 |
| Aplasia hypoplasia involving the skeletal musculature 0.5891277388521569 1.6687317550771996 0.0951705529022624 1.0 1.0 11 Q9Y487,Q9NR77,P06753 3 |
| Calcinosis 0.755548668328925 1.649102728567014 0.0991265907501146 1.0 1.0 5 O75844 1 |
| Abnormal placenta morphology 0.5643242257764478 1.6481204423969782 0.0993279581939512 1.0 1.0 7 O75844,Q6PGP7 2 |
| Hypertrophic nerve changes 0.963614311704063 1.6480768158113963 0.0993369091542943 1.0 1.0 2 Q9NR77 1 |
| Depressed nasal tip 0.7524794285288342 1.635669495007408 0.1019087771481377 1.0 1.0 5 Q96KP1 1 |
| Exostoses 0.7508744895191979 1.628640544880657 0.1033891358446803 1.0 1.0 5 O75874 1 |
| Cns demyelination 0.6060517127102668 1.6261942637381608 0.1039083360723087 1.0 1.0 16 P51648,P40855,Q13144,Q9NR50,Q15067,Q99700 6 |
| Fatigable weakness of swallowing muscles 0.5857159391897183 1.625574938786774 0.1040401100812804 1.0 1.0 12 Q9UHD9,O95292,P35637,Q99700 4 |
| Impaired tactile sensation 0.5586952137766432 1.61920837085977 0.1054024375355409 1.0 1.0 7 Q9NR77 1 |
| Alveolar ridge overgrowth 0.956337174044876 1.6156595312402895 0.1061679451512311 1.0 1.0 2 Q15392 1 |
| Abnormal middle phalanx morphology of the hand 0.5576206738280027 1.6136804430897596 0.1065967581027893 1.0 1.0 7 Q15233,Q8IWS0,Q9UHX1 3 |
| Pituitary adenoma 0.5824656586673741 1.609121874343162 0.1075896950497576 1.0 1.0 12 P48735,O00170,O75874,P54277,P10644,P43246,P52701 7 |
| Cardiovascular calcification 0.5670133653400062 1.6086954356936063 0.1076829543361541 1.0 1.0 9 O75844 1 |
| Dysesthesia 0.5560502294412398 1.6055963393270472 0.1083626303145606 1.0 1.0 7 Q8NCH0,Q9UL01,Q9NR77 3 |
| Gingival bleeding 0.5739535608621003 1.5917705197176426 0.1114362764246865 1.0 1.0 11 P49257 1 |
| Zonular cataract 0.5734649800844239 1.58928387126694 0.111996318402185 1.0 1.0 11 Q15436,Q9H6K4,P08670,Q01968,Q99797,Q8WWV3 6 |
| Fluctuations in consciousness 0.5565599099589377 1.5815481832689942 0.1137527510677509 1.0 1.0 8 O43819 1 |
| Abnormality of renal excretion 0.5453277770885154 1.5770956908725364 0.1147735085891317 1.0 1.0 6 O43772 1 |
| Pneumothorax 0.5556654652445069 1.576946904181855 0.1148077427580454 1.0 1.0 8 Q8NFG4,Q9H078,Q9UL01,Q8NCH0 4 |
| Chondrosarcoma 0.9655969506311634 1.5684619392562027 0.116773365737842 1.0 1.0 3 O75874 1 |
| Entropion 0.5509809343176771 1.552818695915848 0.1204664548763627 1.0 1.0 8 O75844,P30153 2 |
| Limb girdle muscular dystrophy 0.5550620965127271 1.5474125989366283 0.121763785104789 1.0 1.0 9 P50402 1 |
| Impaired horizontal smooth pursuit 0.731231661765617 1.5423751391252012 0.1229824592841999 1.0 1.0 5 P41440,Q99700 2 |
| Intellectual disability progressive 0.5691682693668169 1.5415720564164532 0.123177620332143 1.0 1.0 12 P53701,Q05086,Q15067 3 |
| Pulmonary hemorrhage 0.538394907795634 1.5411247254433462 0.1232864332415859 1.0 1.0 6 P06748,P40763 2 |
| Abnormal cartilage morphology 0.5734666518197904 1.537825599231962 0.1240912626250057 1.0 1.0 13 Q7LGA3,P48735,O75874,Q13428 4 |
| Distal sensory impairment of all modalities 0.7281900093993755 1.5289805589665908 0.1262692635098781 1.0 1.0 5 P48643 1 |
| Glioblastoma multiforme 0.5395171849186127 1.5201406405920022 0.1284756323180353 1.0 1.0 7 P43246,P54277,O75874,P52701 4 |
| Hyporeflexia of upper limbs 0.9348089751364465 1.5197361966068257 0.1285772904468825 1.0 1.0 2 Q9NR77 1 |
| Limitation of movement at ankles 0.7235129744404232 1.5083668852331755 0.1314606534265481 1.0 1.0 5 O75844 1 |
| Eyelid myoclonus 0.5565747082996733 1.5030088762048093 0.1328367550927431 1.0 1.0 11 P00374,Q01105,Q08209,Q7L7X3 4 |
| Bloody diarrhea 0.5310262170153675 1.5027727049506778 0.1328976668053247 1.0 1.0 6 Q6PGP7 1 |
| Toxemia of pregnancy 0.5304143792959846 1.4995828901313346 0.1337224824765999 1.0 1.0 6 O43772 1 |
| Neoplasm of the parathyroid gland 0.5328789044888469 1.4856581804251214 0.1373695574715974 1.0 1.0 7 P48735,O75874 2 |
| Abnormality of the parathyroid morphology 0.5328789044888469 1.4856581804251214 0.1373695574715974 1.0 1.0 7 P48735,O75874 2 |
| Parathyroid adenoma 0.5328789044888469 1.4856581804251214 0.1373695574715974 1.0 1.0 7 P48735,O75874 2 |
| Juvenile aseptic necrosis 0.5272502507100082 1.4830739409515303 0.1380547666881715 1.0 1.0 6 Q8IWS0 1 |
| Abnormality of prothrombin 0.5600658657728161 1.4695850007945948 0.1416741850467784 1.0 1.0 13 Q6NUQ1,P40939,P49257 3 |
| Bulbar signs 0.5600240752975298 1.4693716734588866 0.1417320061103724 1.0 1.0 13 O43681,Q9NZJ7,P03886,Q92734,P35637 5 |
| Thick hair 0.7121371350058757 1.4581481122682445 0.144799722319145 1.0 1.0 5 Q9Y487 1 |
| Oculogyric crisis 0.5527437348766792 1.4576454101472454 0.1449383060871505 1.0 1.0 12 P61457,Q01105,Q08209,Q7L7X3 4 |
| Glossoptosis 0.5222615641570593 1.4570028530213863 0.1451155926777527 1.0 1.0 6 P98175 1 |
| Myoglobinuria 0.531322190611396 1.451050702534272 0.1467657422563646 1.0 1.0 8 P23786,P40939 2 |
| Abnormal anterior horn cell morphology 0.5206773369996347 1.448713051688163 0.1474177340410656 1.0 1.0 6 Q16637 1 |
| Type 1 muscle fiber atrophy 0.5307002649144221 1.44781847553582 0.1476678242919433 1.0 1.0 8 P61978,P50402 2 |
| Primary gonadal insufficiency 0.5300605788509125 1.4444931837356 0.1486002957257783 1.0 1.0 8 Q9NR50 1 |
| Proximal amyotrophy 0.5644502221873865 1.4414827567336126 0.1494483453249726 1.0 1.0 15 Q16637,P35637,P50402,O14979 4 |
| Acute lymphoblastic leukemia 0.5533448506795756 1.435237444533678 0.1512194467537857 1.0 1.0 13 O00165,O43683,Q08J23,P35658 4 |
| Olivopontocerebellar atrophy 0.9132807762280172 1.4238940553349 0.1544771429289413 1.0 1.0 2 Q6DKK2 1 |
| Wide cranial sutures 0.5204182153914267 1.4206901313918523 0.1554068627334053 1.0 1.0 7 O75844 1 |
| Abnormal circulating aspartate family amino acid concentration 0.5300697176566662 1.4182916050411225 0.1561056466312327 1.0 1.0 9 Q6PGP7,P55263 2 |
| Hand tremor 0.5398223488439947 1.416888759163737 0.156515453497088 1.0 1.0 11 Q16637,Q92734,Q96KR1,O94905 4 |
| Furrowed tongue 0.7019353873755095 1.413027774880147 0.1576475576323255 1.0 1.0 5 Q15437 1 |
| Unexplained fevers 0.51065293739716 1.3961464671576758 0.1626703933920774 1.0 1.0 6 O75792,Q9NZJ7 2 |
| Recurrent joint dislocation 0.9066100667070957 1.3942387426126508 0.1632455222185151 1.0 1.0 2 Q9UL01 1 |
| Low frustration tolerance 0.5253132775914102 1.3935861729240957 0.1634426063360181 1.0 1.0 9 Q03164,Q6Y7W6,Q9UHX1 3 |
| Retinal pigment epithelial atrophy 0.6973292437164478 1.392633699919599 0.1637305868448852 1.0 1.0 5 P51648,P50213 2 |
| Impaired oropharyngeal swallow response 0.9216591947128884 1.3898268124403828 0.1645814740972495 1.0 1.0 3 Q9NR77 1 |
| Sensory ataxia 0.5092998663805633 1.3890370441985562 0.1648214857961245 1.0 1.0 6 Q9NR77 1 |
| Decreased number of large peripheral myelinated nerve fibers 0.5083183146520108 1.383877693457617 0.166395908076133 1.0 1.0 6 Q8TB36,O15269 2 |
| Bladder diverticulum 0.5131021165246155 1.382410603168018 0.1668456622643399 1.0 1.0 7 Q15056 1 |
| Type i diabetes mellitus 0.5329702576055018 1.3815250553590028 0.1671175794575647 1.0 1.0 11 Q96J02,P03886,P50851,Q5JRA6,P40763 5 |
| Cerebral palsy 0.5324127900881023 1.3786447546569631 0.1680043105451649 1.0 1.0 11 P98175,P48735,O75874 3 |
| Skeletal myopathy 0.6893246628688905 1.357166136876532 0.1747284278190897 1.0 1.0 5 P04075,P40939 2 |
| Premature rupture of membranes 0.502808162933789 1.35488448674526 0.1754543629853222 1.0 1.0 6 O75844 1 |
| Elevated circulating long chain fatty acid concentration 0.8975136446331113 1.3538484752574511 0.1757847246188477 1.0 1.0 2 P40855 1 |
| Temporal pattern 0.5215942717085795 1.348326707900452 0.1775533256184509 1.0 1.0 10 Q9NR77 1 |
| Fatty replacement of skeletal muscle 0.5044862967221097 1.3372169483057594 0.1811518312277491 1.0 1.0 7 P22626,O14908,P51114 3 |
| Obstructive sleep apnea 0.5219709456955252 1.3246128487765805 0.1852995921005047 1.0 1.0 11 Q15233,Q96A33,Q969N2,P51114,Q96KP1 5 |
| Abnormal sensory nerve conduction velocity 0.5020805923436786 1.3245779828876685 0.1853111623961745 1.0 1.0 7 Q9Y5Y0,Q9NR77 2 |
| Venous thrombosis 0.5306584135895903 1.3187856506676403 0.1872407827792808 1.0 1.0 13 P48735,O75874 2 |
| Echolalia 0.5155587281040759 1.3169579131473048 0.1878527323549392 1.0 1.0 10 P53701,Q8NFG4,Q9UHX1 3 |
| Ragged red muscle fibers 0.5478734484407234 1.3077622230056325 0.1909539711082382 1.0 1.0 17 Q70HW3,P03886,P31040,O95831,Q86U42,Q9H2D1 6 |
| Abnormal cervical spine morphology 0.4936784347520774 1.3067420365112403 0.1913003368728747 1.0 1.0 6 Q9UL01 1 |
| Atlantoaxial abnormality 0.6771757677952286 1.3032879549844432 0.192476471721767 1.0 1.0 5 Q9UL01,Q9NWM8 2 |
| Broad foot 0.5076160641623797 1.3013604125480336 0.1931351174083571 1.0 1.0 9 Q8IWS0,O95831,O43175 3 |
| Branchial anomaly 0.502217943169285 1.2990908513301205 0.1939127523942745 1.0 1.0 8 Q9UHX1,P61978,Q13428 3 |
| Decreased light and dark adapted electroretinogram amplitude 0.8988860209649115 1.297398961129113 0.194493949792931 1.0 1.0 3 P50897 1 |
| Macular degeneration 0.5311343601634434 1.2961983457472253 0.1949071593378963 1.0 1.0 14 P51648,P50897,Q13286 3 |
| Stenosis of the external auditory canal 0.4965265288392491 1.2953681310686562 0.1951932663424416 1.0 1.0 7 P61254 1 |
| Amaurosis fugax 0.5013704785271385 1.2946474713422904 0.1954418683211645 1.0 1.0 8 P43246,P54277,O15460,P52701 4 |
| Mucosal telangiectasiae 0.5209649168527868 1.293991289024899 0.1956684297242976 1.0 1.0 12 Q8IZA0,Q15437 2 |
| Thin ribs 0.5343289091255636 1.2877655470756282 0.1978275887422091 1.0 1.0 15 O95831,O75844,Q32P28,Q08209 4 |
| Abnormality of the distal phalanges of the toes 0.6735097895658884 1.2870229081930582 0.1980863036243585 1.0 1.0 5 O75844 1 |
| Gaze evoked nystagmus 0.5097039150472923 1.2864852519021952 0.1982737626169717 1.0 1.0 10 Q9Y4W6,Q10713,P41440,Q99700 4 |
| Large earlobe 0.499158134524357 1.2830438221690528 0.1994767236148458 1.0 1.0 8 Q15392 1 |
| Productive cough 0.493216448863557 1.277941297200848 0.2012701253957836 1.0 1.0 7 P06748,P40763 2 |
| Abnormal subcutaneous fat tissue distribution 0.8802304426925414 1.2773141169500386 0.2014913716512829 1.0 1.0 2 Q9Y487 1 |
| Abnormal circulating apolipoprotein concentration 0.8802304426925414 1.2773141169500386 0.2014913716512829 1.0 1.0 2 Q9Y487 1 |
| Prominent veins on trunk 0.8802304426925414 1.2773141169500386 0.2014913716512829 1.0 1.0 2 Q9Y487 1 |
| Abnormal cutaneous elastic fiber morphology 0.8802304426925414 1.2773141169500386 0.2014913716512829 1.0 1.0 2 Q9Y487 1 |
| Abnormal morphology of the limbic system 0.5223632920626557 1.276044310759527 0.2019398558027132 1.0 1.0 13 Q01105,Q08209,Q7L7X3 3 |
| Pancreatic islet cell hyperplasia 0.8936080958704212 1.2760193913279414 0.2019486643971817 1.0 1.0 3 P53985 1 |
| Broad palm 0.6709126265009937 1.2754989088788395 0.2021327101011845 1.0 1.0 5 Q14739,O95831 2 |
| Hyperphenylalaninemia 0.8793208004851429 1.2732951782903867 0.2029133170733803 1.0 1.0 2 P09417 1 |
| Abnormally large globe 0.4922511382830928 1.2728567449161408 0.2030688807759322 1.0 1.0 7 A1X283,P30533 2 |
| Polar cataract 0.8790175864160101 1.2719557626565934 0.2033888373877825 1.0 1.0 2 P08670 1 |
| Underdeveloped supraorbital ridges 0.5163090827474548 1.2699065747789662 0.2041179109049968 1.0 1.0 12 P40855,P98175,Q08J23,Q6PGP7 4 |
| Meningitis 0.4914854970282998 1.2688231655928108 0.2045041409226393 1.0 1.0 7 O15460 1 |
| Thyroiditis 0.4911969287870846 1.2673027532052332 0.2050470564580342 1.0 1.0 7 P00813,P50851,Q15437 3 |
| Generalized joint laxity 0.5076632050635186 1.2503633646701355 0.2111668410275762 1.0 1.0 11 P38606,Q9Y487,Q9UL01,Q8NCH0 4 |
| Sleep wake cycle disturbance 0.482001714882761 1.2450090954821984 0.2131284069018906 1.0 1.0 6 Q9UBM7,Q05086 2 |
| Abnormal blood potassium concentration 0.5062594270230732 1.2430678776977244 0.2138428216221091 1.0 1.0 11 P04075,Q9UNF1,Q13423 3 |
| Mitral stenosis 0.6632585704710867 1.2415355354521185 0.2144079792381563 1.0 1.0 5 O75844 1 |
| Premature graying of hair 0.4949087448110364 1.2349000812215671 0.2168676932313844 1.0 1.0 9 Q13126 1 |
| Hip pain 0.6604312205255622 1.22899066202811 0.2190753071394628 1.0 1.0 5 O75844 1 |
| Focal non motor seizure 0.5030727142592097 1.2265007558143644 0.2200102910667887 1.0 1.0 11 Q01105,P67870,Q08209,Q7L7X3 4 |
| Decreased number of peripheral myelinated nerve fibers 0.5223739347664093 1.2264874254379192 0.2200153044458166 1.0 1.0 15 Q8TB36,Q92734,Q9NR77,O15269 4 |
| Astrocytoma 0.4868693716701833 1.2184980225590083 0.2230347757638529 1.0 1.0 8 O75874 1 |
| Hyporeflexia of lower limbs 0.4916129259916865 1.2176387077717847 0.2233612982131441 1.0 1.0 9 Q9NR77 1 |
| Arthropathy 0.4767891479227468 1.217404724835167 0.223450266259529 1.0 1.0 6 Q9Y3Z3,O15269 2 |
| Amyotrophic lateral sclerosis 0.5201866761197436 1.2152657654743246 0.2242647445176993 1.0 1.0 15 Q9UHD9,P31483,P35637,O95292,P22626,Q99700 6 |
| Congenital hypothyroidism 0.6570118945811272 1.2138209882890711 0.2248160898074869 1.0 1.0 5 P21281,Q13423 2 |
| Recurrent aspiration pneumonia 0.4804712403854344 1.210733815217901 0.2259974380834064 1.0 1.0 7 P78318,O14908,P08559 3 |
| Abnormality of neutrophil morphology 0.6561262835677384 1.209892440654954 0.2263201682789097 1.0 1.0 5 Q14739,P41440 2 |
| Abnormal circulating long chain fatty acid concentration 0.6560527687340589 1.209566339775068 0.2264453407846247 1.0 1.0 5 P40855 1 |
| Conical tooth 0.4800950564836292 1.208748002181189 0.2267596738325861 1.0 1.0 7 Q9Y487,Q12959 2 |
| Abnormality of the intrinsic pathway 0.4991060378507953 1.2058690962243843 0.2278679681525166 1.0 1.0 11 Q9Y487,P38606,P49257 3 |
| Large placenta 0.8761829066718627 1.2055971918414763 0.2279728424968112 1.0 1.0 3 O75844 1 |
| Abnormal speech prosody 0.4793966193131581 1.2050608017295332 0.2281798306115021 1.0 1.0 7 P03886 1 |
| Cold induced muscle cramps 0.875697877013472 1.2036412015711238 0.2287282874299268 1.0 1.0 3 Q9NR77 1 |
| Abnormality of the gastric mucosa 0.5128540369654082 1.2021739872876565 0.2292961254395515 1.0 1.0 14 Q14739,Q15056,Q6PGP7 3 |
| Addictive behavior 0.4721974329231289 1.1930699118736592 0.2328419940039814 1.0 1.0 6 P06748,P40763 2 |
| Abnormality of the musculature of the thigh 0.4865209183855389 1.1909555827853495 0.2336710223570519 1.0 1.0 9 P50402 1 |
| Gangrene 0.4908589126479193 1.1881823266842588 0.2347615849996653 1.0 1.0 10 P06748,O15460,Q9NZ08,P10644,P40763 5 |
| Synostosis of metacarpals metatarsals 0.8590054578532449 1.1838453800298183 0.2364742747712336 1.0 1.0 2 Q15233 1 |
| Dystrophic fingernails 0.4781078523678662 1.172407227938185 0.241033598970882 1.0 1.0 8 P40763,O75844,Q02750,P02545 4 |
| Ulnar claw 0.8352134930635334 1.171844633754642 0.2412594391576363 1.0 1.0 4 Q8TB36,Q9NR77 2 |
| Joint hemorrhage 0.8550636749545185 1.1665679590291016 0.2433848890710024 1.0 1.0 2 P49257 1 |
| Onion bulb formation 0.4815479043372608 1.1648830299493984 0.2440663435668093 1.0 1.0 9 Q9NR77 1 |
| Congenital malformation of the right heart 0.4901807200986449 1.159417805498506 0.2462859224338685 1.0 1.0 11 P40855,A1X283,P49459,O15460 4 |
| Segmental peripheral demyelination remyelination 0.6447374206314471 1.159396076459342 0.2462947753419004 1.0 1.0 5 P03886,Q9NR77 2 |
| Lipoma 0.4655916146315763 1.1580382665584443 0.2468484206511012 1.0 1.0 6 Q15437 1 |
| Abnormal erythrocyte sedimentation rate 0.4652497873344031 1.1562249554840975 0.2475891547256343 1.0 1.0 6 O15460 1 |
| Branchial cyst 0.8520315342631902 1.1532976625933933 0.2487882292071959 1.0 1.0 2 Q9UHX1 1 |
| Dilatation of the ventricular cavity 0.8520315342631903 1.1532976625933933 0.2487882292071959 1.0 1.0 2 Q99959 1 |
| Anteverted ears 0.8520315342631901 1.1532976625933926 0.2487882292071961 1.0 1.0 2 O15347 1 |
| High frequency sensorineural hearing impairment 0.6427954533107075 1.1507917628099895 0.2498179143696024 1.0 1.0 5 O75844 1 |
| Transposition of the great arteries 0.4641220785513258 1.1502424400694593 0.2500440307874074 1.0 1.0 6 O75844 1 |
| Late onset 0.4835308324046135 1.1498989877354542 0.2501854778684904 1.0 1.0 10 Q9Y6M1,P31483,O00330 3 |
| Bruxism 0.4770661271432465 1.141378837733923 0.2537123072666609 1.0 1.0 9 Q9Y5P4 1 |
| Diffuse alveolar hemorrhage 0.6400693684182192 1.1387171123938444 0.2548211629633827 1.0 1.0 5 P06748,P40763 2 |
| Barrel shaped chest 0.8263886591173975 1.1380585784508106 0.2550960227979493 1.0 1.0 4 Q32P28 1 |
| Abnormal brain lactate level by mrs 0.4811463146297131 1.137438904868347 0.2553548512285273 1.0 1.0 10 O00429,P03886,Q15046,O43819,P53597 5 |
| Hypoplasia of the uterus 0.4711442701840483 1.1357506228729837 0.2560609474882775 1.0 1.0 8 P53701,Q16740 2 |
| Central hypoventilation 0.4610128087842591 1.1337457983724786 0.2569011926847144 1.0 1.0 6 O43819 1 |
| Dilation of virchow robin spaces 0.847483323226198 1.1334268152090818 0.2570350585125021 1.0 1.0 2 P27635 1 |
| Bilateral talipes equinovarus 0.4657972944577999 1.1332162031955528 0.2571234713755492 1.0 1.0 7 P49459,Q15392 2 |
| Periventricular white matter hyperintensities 0.4657916785861718 1.13318652202847 0.2571359329357587 1.0 1.0 7 O43681,Q9NZJ7 2 |
| Oligospermia 0.8471801091570653 1.1321036261761963 0.257590870553487 1.0 1.0 2 P16435 1 |
| Oral cavity bleeding 0.4604781209241062 1.1309087249389158 0.2580935106327016 1.0 1.0 6 P06748,P40763 2 |
| Abnormal csf pyruvate family amino acid concentration 0.6370563240602494 1.1253772960304416 0.2604291877690881 1.0 1.0 5 P08559 1 |
| Bifid scrotum 0.6364188163884641 1.1225556816858182 0.2616262466125096 1.0 1.0 5 Q9UBM7,P16435,Q96EK5,O60566 4 |
| Dysmetric saccades 0.463498912641108 1.1210684293176334 0.2622587358316588 1.0 1.0 7 Q9Y4W6,Q99700 2 |
| Angiofibromas 0.635616552375675 1.1190053047320734 0.2631378759596319 1.0 1.0 5 Q15437,P52701 2 |
| Adenoma sebaceum 0.635616552375675 1.1190053047320734 0.2631378759596319 1.0 1.0 5 Q15437,P52701 2 |
| Heat intolerance 0.6353733085157977 1.117928943098233 0.2635973424813234 1.0 1.0 5 P61978,Q05086,Q02750 3 |
| Fasting hyperinsulinemia 0.6336200612486791 1.1101722096879132 0.2669248256123442 1.0 1.0 5 P00367,P40939 2 |
| Malrotation of small bowel 0.6335188260545449 1.1097244031255202 0.2671178038427357 1.0 1.0 5 Q9UL01 1 |
| Skin appendage neoplasm 0.6334467798421684 1.10940571729483 0.2672551970715351 1.0 1.0 5 Q8NFG4,P35222,Q15437 3 |
| Agenesis of lateral incisor 0.8411158277744093 1.1056822771305634 0.2688640636486159 1.0 1.0 2 P54132 1 |
| Bilateral polymicrogyria 0.4749193901766826 1.1048997591176108 0.2692030268250984 1.0 1.0 10 Q01105,Q08209,Q7L7X3 3 |
| Aplasia hypoplasia of the epiglottis 0.8408126137052763 1.1043633986191272 0.2694355313517418 1.0 1.0 2 Q15427 1 |
| Sparse lateral eyebrow 0.4553667364211876 1.1037861811331735 0.2696859006949519 1.0 1.0 6 P61978,Q92643 2 |
| Rectal prolapse 0.4599870787215017 1.1025068380489431 0.2702413873364411 1.0 1.0 7 Q15056 1 |
| Bulbar palsy 0.4836178095715884 1.100420818554579 0.2711488118520946 1.0 1.0 12 O43681,O14908,P35637,P06753 4 |
| Spotty hypopigmentation 0.83687083080655 1.087237868177105 0.2769316992651556 1.0 1.0 2 P54132 1 |
| Subcutaneous nodule 0.504587210154593 1.0871418909218389 0.2769741069235916 1.0 1.0 17 P48735,P35637,O75874,Q15437 4 |
| Myositis 0.4710310210196358 1.08458373157734 0.2781060635550227 1.0 1.0 10 O75792,P28070,P22626,Q9NZ08 4 |
| Psoriasiform dermatitis 0.8356579745300188 1.0819760912841685 0.2792631518087938 1.0 1.0 2 Q15800 1 |
| Acanthocytosis 0.6267678625178541 1.0798834810225213 0.2801940701582959 1.0 1.0 5 O75845,Q05682 2 |
| Inflammation of the large intestine 0.4691581859596168 1.0748002640458612 0.2824641622267467 1.0 1.0 10 P08183,Q6PGP7 2 |
| Hypoplasia of the radius 0.469006971359012 1.0740104009324487 0.2828180199421377 1.0 1.0 10 P61254,P98175,Q15427,P38919 4 |
| Cyanosis 0.5059425492949483 1.0703896903039043 0.2844439379317589 1.0 1.0 18 O43772,O75792,O75844 3 |
| Abnormal hair laboratory examination 0.4625504316189772 1.0652523675874783 0.2867617414970058 1.0 1.0 9 Q6PGP7 1 |
| Agenesis of incisor 0.8410676372459804 1.0647991919379578 0.2869668109035488 1.0 1.0 3 P54132,Q12959 2 |
| Inverted nipples 0.4474875263083313 1.0619826503199374 0.2882435615856151 1.0 1.0 6 Q15067,P61978 2 |
| Neoplasm of the pituitary gland 0.4946971852360899 1.060450965676833 0.2889394863695771 1.0 1.0 16 P48735,O00170,O75874,P35240,P35222,P54277,P10644,P43246,P52701 9 |
| Central apnea 0.4520073574150458 1.0603389511676309 0.2889904248339272 1.0 1.0 7 Q9NZJ7 1 |
| Hammertoe 0.498958611517752 1.0584561574123252 0.2898475286663005 1.0 1.0 17 Q96BR5,Q8N0X7,Q9NR77 3 |
| Ketotic hypoglycemia 0.8392586148938276 1.0575997043387182 0.2902379773806887 1.0 1.0 3 P53985 1 |
| Molar tooth sign on mri 0.4465503137785465 1.0570116349047016 0.2905062774553042 1.0 1.0 6 Q96KP1,Q8WXW3 2 |
| Impaired temperature sensation 0.4460059729264533 1.0541246294123936 0.2918258613416919 1.0 1.0 6 Q9NR77 1 |
| Distal peripheral sensory neuropathy 0.6207963281799966 1.0535280921322516 0.2920990261721048 1.0 1.0 5 P40939 1 |
| Basal ganglia cysts 0.4449413020157347 1.04847843045874 0.2944182349339264 1.0 1.0 6 P23786 1 |
| Short middle phalanx of finger 0.8356081286017661 1.0430910472298458 0.2969061267244366 1.0 1.0 3 Q8IWS0,Q9UHX1 2 |
| Deep palmar crease 0.4672685060394438 1.0401615608548576 0.298264846762533 1.0 1.0 11 P61978,Q02750,Q9Y487,Q6NUK1,P98175,P21281 6 |
| Pericarditis 0.6175181158597841 1.0390783382723348 0.2987683044045046 1.0 1.0 5 O15460 1 |
| Tics 0.4430491180088615 1.038445433891659 0.2990627266287693 1.0 1.0 6 Q9UHX1,Q01082,Q8WXI9,P28482 4 |
| Decreased activity of mitochondrial complex iv 0.4895093164523725 1.033941769491734 0.3011633864501666 1.0 1.0 16 P20674,P13073,Q70HW3 3 |
| Gastritis 0.616080286491331 1.0327452227760257 0.3017231442618908 1.0 1.0 5 Q6PGP7 1 |
| Chordee 0.4419685137398224 1.0327167979671152 0.3017364501186281 1.0 1.0 6 P53701 1 |
| Simple ear 0.6160207263679507 1.032482944614892 0.3018459333740904 1.0 1.0 5 P16435,Q96KP1,A1X283 3 |
| Neoplasm of the stomach 0.5026919498303395 1.0305405649667132 0.3027563201433922 1.0 1.0 19 P31040,Q8NFG4,P63167,P52701,P10644,P54132,O43683 7 |
| Upper limb spasticity 0.4510116599905662 1.0297894409375274 0.3031088585151273 1.0 1.0 8 Q8N0X7,P35637 2 |
| Hypothermia 0.4506970193087868 1.0281350327150638 0.3038863134385048 1.0 1.0 8 O43772,P03886 2 |
| Spastic dysarthria 0.460177998347851 1.0279162160337048 0.3039892409134159 1.0 1.0 10 Q9Y4W6,Q8N0X7 2 |
| Prominent superficial blood vessels 0.4599320578754399 1.026633050714064 0.3045932850537238 1.0 1.0 10 Q9Y487,O75844 2 |
| Postural tremor 0.5107822404526644 1.0252319738131004 0.3052537448983368 1.0 1.0 21 Q9NW08,P03886,Q9NR77,O14773,P35637,Q99497,O95292,O75569,Q99700 9 |
| Esophagitis 0.4489481522461049 1.0189409207055178 0.3082310151284828 1.0 1.0 8 Q9NQX3 1 |
| Thick cerebral cortex 0.7947759247631735 1.0177366305086284 0.3088031343179014 1.0 1.0 4 Q9Y487,P38606 2 |
| Young adult onset 0.4675795014223741 1.0172939619659302 0.3090136081301446 1.0 1.0 12 Q9H269,O14908,Q9NZJ7,P31483,P38435 5 |
| Atrophic scars 0.4482996256276151 1.015532219607096 0.3098521960596549 1.0 1.0 8 Q9UL01,Q9NWM8 2 |
| Pierre robin sequence 0.4433936260293969 1.014857669447322 0.3101736789419416 1.0 1.0 7 P98175 1 |
| Fatigable weakness of respiratory muscles 0.4717267384460859 1.014478771992747 0.3103543536910496 1.0 1.0 13 Q9UHD9,O95292,P35637,Q99700 4 |
| Oval face 0.4433187602254519 1.0144626348307515 0.3103620501323556 1.0 1.0 7 Q96KP1 1 |
| Breech presentation 0.4523605772155104 1.011868532064481 0.3116009169524907 1.0 1.0 9 O75718,Q9Y619,P06753 3 |
| Rimmed vacuoles 0.4850732336401054 1.0112941638670092 0.3118756585156792 1.0 1.0 16 O14908,P50402,O14979 3 |
| Ureteral duplication 0.4359620430362478 1.000892551774497 0.3168787578294525 1.0 1.0 6 O75844 1 |
| Blue irides 0.4502023325012521 1.0005736553838505 0.3170329718730473 1.0 1.0 9 Q15056 1 |
| Anti thyroid peroxidase antibody positivity 0.8159490600363861 0.9970328828924802 0.3187485490702419 1.0 1.0 2 P00813 1 |
| Muscle stiffness 0.4959969849105616 0.996712179903056 0.3189042359257894 1.0 1.0 19 Q9NZJ7,P53985,O75792,P23786,Q15392,P06753 6 |
| Abnormalities of placenta or umbilical cord 0.4721440897250012 0.9926144256951168 0.3208978919802412 1.0 1.0 14 P16435,O75844,Q6PGP7,O43175 4 |
| Finger swelling 0.8147362037598549 0.991843449260649 0.3212738988158334 1.0 1.0 2 P28070 1 |
| Limb fasciculations 0.7871251225941789 0.98883414045254 0.3227442975273447 1.0 1.0 4 Q16637 1 |
| Abnormal placental size 0.7871162887519578 0.9888008279502788 0.3227605990971236 1.0 1.0 4 O75844,Q6PGP7 2 |
| Rhizomelia 0.4667363771727494 0.9887558940237148 0.3227825884952962 1.0 1.0 13 Q03164,Q14739,P49585,O75718,Q15392 5 |
| Urinary bladder sphincter dysfunction 0.4569678931912321 0.9866505901464772 0.3238139601419245 1.0 1.0 11 P22626,Q9NR77 2 |
| Gingival fibromatosis 0.7861921402177382 0.9853166394372808 0.324468561919212 1.0 1.0 4 Q15392 1 |
| Middle age onset 0.4518759175899628 0.9846363533296396 0.3248027262077118 1.0 1.0 10 P31483,P31040,Q9H269,Q9NZJ7 4 |
| Abnormality of the antihelix 0.4565517835035387 0.9844915450028444 0.3248738866121381 1.0 1.0 11 P98175,P16435,Q08J23 3 |
| Abnormal circulating ige level 0.6048032187260365 0.983183788717808 0.3255169919645495 1.0 1.0 5 P49327,P40763,P00813 3 |
| Multifocal cerebral white matter abnormalities 0.4322606010959842 0.9813000518146464 0.3264447972087221 1.0 1.0 6 O75792,Q9Y619 2 |
| Retinal hemorrhage 0.6034597714448581 0.977293927336096 0.3284236586167361 1.0 1.0 5 Q9Y487 1 |
| Dysdiadochokinesis 0.4829812004619427 0.9771852126087256 0.3284774674332849 1.0 1.0 17 Q6DKK2,P41440,Q9Y4W6,P18887,Q99700 5 |
| Abnormal cervical curvature 0.8187459356471083 0.976445366852095 0.3288438090652374 1.0 1.0 3 Q9UL01 1 |
| Cervical kyphosis 0.8187459356471083 0.976445366852095 0.3288438090652374 1.0 1.0 3 Q9UL01 1 |
| Brittle hair 0.4733782120911781 0.9751890514065644 0.3294664920258539 1.0 1.0 15 Q6PGP7,P62266,O75844 3 |
| Concentric hypertrophic cardiomyopathy 0.7829397174268836 0.9730670775518788 0.3305199653300299 1.0 1.0 4 Q13286 1 |
| Trismus 0.7822549861187026 0.9704907369419588 0.3318019399146719 1.0 1.0 4 Q15427 1 |
| Tibial bowing 0.7812891504455557 0.9668582692395604 0.3336148905298475 1.0 1.0 4 Q32P28 1 |
| Peripheral demyelination 0.4844707208412468 0.9615500980298411 0.3362756486291389 1.0 1.0 18 O43681,Q9NZJ7,P03886,Q9Y5Y0,Q9NR77,Q8TB36 6 |
| Albuminuria 0.7794247684588402 0.959851597164791 0.3371299097214024 1.0 1.0 4 Q5JRA6,O00330 2 |
| Oral pharyngeal dysphagia 0.4748085543733635 0.9589862001379386 0.3375656972154413 1.0 1.0 16 O14908,Q7L7X3,Q01105,P67870,Q8NFG4,Q08209 6 |
| Shuffling gait 0.4514544174342773 0.9580638347567136 0.3380305705533994 1.0 1.0 11 O75844,Q99700 2 |
| Stillbirth 0.4555807578254083 0.9552701771235472 0.3394410849477316 1.0 1.0 12 Q14739,P16435,O75844 3 |
| Abnormal c peptide level 0.5983586039013112 0.9549613448432976 0.3395972453870222 1.0 1.0 5 P40939 1 |
| Cystic hygroma 0.4414108790625115 0.954627265727186 0.3397662237038257 1.0 1.0 9 Q14739,P61978,Q99567,Q02750 4 |
| Anterior rib cupping 0.4270973381206188 0.9540008653294996 0.3400832043622608 1.0 1.0 6 O95831 1 |
| Happy demeanor 0.8123984161339501 0.9515349291540652 0.3413328959781236 1.0 1.0 3 Q05086 1 |
| Stroke like episode 0.5975468092050424 0.9514122090938596 0.3413951649650146 1.0 1.0 5 P03886 1 |
| Macular purpura 0.463697299677222 0.9493028304136096 0.3424666144188222 1.0 1.0 14 P06748,P40763,Q8NCH0,P38435 4 |
| Abnormality of the achilles tendon 0.4587488324851623 0.9476578532597912 0.3433036636869031 1.0 1.0 13 Q92734,P50402 2 |
| Ineffective esophageal peristalsis 0.4296664056818929 0.9425413953642456 0.3459155280019488 1.0 1.0 7 Q9Y5Y0,P40763,Q9NSE4 3 |
| Chronic infection 0.4382455418157101 0.9381143590580934 0.3481856433612207 1.0 1.0 9 P10644,P06748,P40763 3 |
| Schistocytosis 0.5944849808026627 0.9380387031805872 0.3482245206400751 1.0 1.0 5 O75845,P41440 2 |
| Pseudobulbar signs 0.4419813810123356 0.9331807791970432 0.3507266369898443 1.0 1.0 10 Q15233 1 |
| Atrophy degeneration involving the corticospinal tracts 0.446519417299662 0.932519621528978 0.3510680511334789 1.0 1.0 11 Q15056 1 |
| Deep plantar creases 0.5929023015571544 0.931133990186072 0.3517842581087333 1.0 1.0 5 Q9Y487,P61978 2 |
| Skin nodule 0.4872884664740931 0.930077752220926 0.3523308288710813 1.0 1.0 20 P48735,O75874,P35637,Q15437 4 |
| Pancreatic hypoplasia 0.4271320288256444 0.929222585034445 0.3527737452160937 1.0 1.0 7 O00330 1 |
| Mitochondrial respiratory chain defects 0.5920276597670476 0.9273206757000488 0.3537600624982771 1.0 1.0 5 P03886 1 |
| Limb girdle muscle atrophy 0.4498396040098461 0.925675112852294 0.3546148451419544 1.0 1.0 12 P50402,O14979 2 |
| Abnormal mitochondrial morphology 0.4354615913471056 0.9236067672645516 0.3556910891854346 1.0 1.0 9 Q00325,P35637,O60783 3 |
| Metaphyseal striations 0.5910703382167896 0.923148940260124 0.3559295933350128 1.0 1.0 5 Q13126 1 |
| Ambiguous genitalia male 0.8048605933422993 0.9220953691615996 0.3564788322556074 1.0 1.0 3 Q15392 1 |
| Mottled pigmentation 0.8048028553848293 0.9218704968619368 0.3565961299461135 1.0 1.0 3 O75844 1 |
| Frontotemporal dementia 0.4444505817398881 0.9218250904463692 0.3566198177515491 1.0 1.0 11 Q9UHD9,P31483,P35637,P09651,P22626 5 |
| Abnormal atrioventricular conduction 0.4535536887589831 0.9209884263800407 0.3570564695472082 1.0 1.0 13 O43772,Q99959,P50402 3 |
| Delayed closure of the anterior fontanelle 0.4442457659373375 0.9207668136515984 0.3571721847754139 1.0 1.0 11 P40855,Q9Y487 2 |
| Cerebral dysmyelination 0.4253136146774717 0.9196741598476228 0.3577430598866458 1.0 1.0 7 Q9NZJ7 1 |
| Decreased ldl cholesterol concentration 0.7686031339605206 0.919325333848528 0.3579254306875914 1.0 1.0 4 Q15800 1 |
| Distal sensory loss of all modalities 0.7684934443311235 0.9189158749114056 0.3581395758097661 1.0 1.0 4 P48643 1 |
| Tinnitus 0.4621417322569157 0.9178711842561692 0.3586863092653432 1.0 1.0 15 Q9NR77,Q9NR28 2 |
| Bilateral cryptorchidism 0.4340456271305868 0.9162340845756728 0.3595441318755905 1.0 1.0 9 Q15233,P27635,P48449,P38606 4 |
| Intestinal hypoplasia 0.7660412812676347 0.9097695385532304 0.3629440623834363 1.0 1.0 4 O75844 1 |
| Abnormal morphology of the radius 0.4602226303493782 0.908107299871498 0.3638215340610871 1.0 1.0 15 P61254,P98175,Q32P28,Q15427 4 |
| Widely patent fontanelles and sutures 0.7652736358514798 0.9069092087827126 0.3644548110013277 1.0 1.0 4 O75844 1 |
| Small anterior fontanelle 0.794420861127957 0.905687697641728 0.3651011759010107 1.0 1.0 2 Q9Y619 1 |
| Episodic vomiting 0.4410926696234131 0.9044865850842616 0.3657374445048309 1.0 1.0 11 P03886,P61978,Q9Y619 3 |
| Trichorrhexis nodosa 0.7629053122055144 0.8980935363016023 0.3691356847184139 1.0 1.0 4 Q6PGP7 1 |
| Hypermetric saccades 0.7926015767131602 0.898049327668562 0.3691592520756481 1.0 1.0 2 P18887 1 |
| Renal cell carcinoma 0.4806823084264437 0.8970325155798383 0.3697015667401433 1.0 1.0 20 Q92733,P63167,O43683 3 |
| Abnormality of circulating adrenocorticotropin level 0.4396143796700003 0.8968617573781055 0.3697926888155189 1.0 1.0 11 P35240,P10644,Q13423,P16435,Q9UER7 5 |
| Generalized hypopigmentation of hair 0.4346688062723039 0.8952736707966225 0.370640811342906 1.0 1.0 10 Q05086 1 |
| Distal lower limb amyotrophy 0.4529713280296998 0.894497561083824 0.3710557341111147 1.0 1.0 14 Q9NR77,O14908,Q92734,P06753 4 |
| Bilateral microphthalmos 0.4144220290076984 0.8871909404012157 0.3749761091744525 1.0 1.0 6 Q13428 1 |
| Neuronal loss in central nervous system 0.4422014503976014 0.8864104854260022 0.3753963710124814 1.0 1.0 12 O43819,P35637,Q99700 3 |
| Diastema 0.4184826003262051 0.883870874286392 0.3767659214692787 1.0 1.0 7 Q9BSJ2,Q8TC12,O15347 3 |
| Noncompaction cardiomyopathy 0.7948227565343038 0.883154002873181 0.377153069842387 1.0 1.0 3 Q15233 1 |
| Talipes calcaneovalgus 0.5810380611343771 0.8795695024550506 0.3790925662764157 1.0 1.0 5 Q9NR77,P07196 2 |
| Reduced pancreatic beta cells 0.7880533656761681 0.8790143432470432 0.3793934989113605 1.0 1.0 2 O00330 1 |
| Abnormal tricuspid valve morphology 0.4498839010357076 0.8787721004221595 0.3795248564135858 1.0 1.0 14 P53701 1 |
| Pelvic kidney 0.4217838232849036 0.8767067772549861 0.3806459246989204 1.0 1.0 8 Q15056 1 |
| Rhabdomyolysis 0.4402466426559266 0.8763848914553165 0.380820829034342 1.0 1.0 12 O43772,P23786,P40939 3 |
| Abnormal vitamin b12 level 0.4116812132561105 0.872793400203652 0.3827756975596377 1.0 1.0 6 P41440 1 |
| Abnormal blood sodium concentration 0.4349263025984562 0.8727179905506265 0.3828168092569202 1.0 1.0 11 Q9UNF1,Q13423,P35658 3 |
| Neoplasm of the adrenal gland 0.4392590793928183 0.8713239566444335 0.3835772933938426 1.0 1.0 12 O75874 1 |
| Enlarged ovaries 0.7554402469301047 0.8703984537977641 0.3840826913885333 1.0 1.0 4 P16435,Q15437 2 |
| Impaired mastication 0.4108412752855285 0.8683852941132614 0.3851834427043279 1.0 1.0 6 O15460 1 |
| Distal upper limb amyotrophy 0.4470630419182321 0.8644270361936551 0.3873533461516778 1.0 1.0 14 Q8TB36,Q9NR77 2 |
| Increased urine proteinogenic amino acid derivative level 0.7838083687083086 0.8613298628010974 0.3890563928502182 1.0 1.0 2 Q9NQX3 1 |
| Moderate albuminuria 0.7882923870185051 0.857995130912069 0.3908951520665824 1.0 1.0 3 Q5JRA6,O00330 2 |
| Thoracic scoliosis 0.4271581693990511 0.8564783382854076 0.3917332496005898 1.0 1.0 10 Q9UHX1,O75844,P06753 3 |
| Spinal canal stenosis 0.4172899999485338 0.8533330955025612 0.3934746118827013 1.0 1.0 8 Q8IWS0,Q9NSE4,P10644 3 |
| Shallow orbits 0.4213281676854554 0.8502372912889954 0.3951931727664832 1.0 1.0 9 O75844 1 |
| Lymphoproliferative disorder 0.7499153106426347 0.8499969381840026 0.3953267885247427 1.0 1.0 4 P17812 1 |
| Patchy changes of bone mineral density 0.7859708397941665 0.8490867298362093 0.3958330339089715 1.0 1.0 3 Q13126 1 |
| Punctate cataract 0.7484830097087467 0.8447220221422536 0.3982660608406059 1.0 1.0 4 Q9H6K4,P08670,Q8WWV3 3 |
| Thickened calvaria 0.4155244264005033 0.8441664681449337 0.3985763893398308 1.0 1.0 8 Q15233 1 |
| Wormian bones 0.4610113818575679 0.8435779075543274 0.3989053138879985 1.0 1.0 18 Q32P28,Q96AY3,Q9Y487,O95831,O75844,A1X283 6 |
| Chorioretinal degeneration 0.4060349300491964 0.84320097667531 0.3991160522968746 1.0 1.0 6 P40939 1 |
| Abnormality of chromosome segregation 0.5724294950517472 0.842399621485605 0.3995643048235213 1.0 1.0 5 Q15437 1 |
| Osteomyelitis 0.4468514132760193 0.8403435842035445 0.4007157709115603 1.0 1.0 15 P48643,Q9Y5Y0,O15269,Q13126 4 |
| Decreased circulating level of specific antibody 0.4143973883004807 0.8383202624625964 0.4018508588709837 1.0 1.0 8 P17812,P50851 2 |
| Abnormal circulating phenylalanine concentration 0.7826648364170441 0.836434279661017 0.4029106346125732 1.0 1.0 3 P09417 1 |
| Orthostatic hypotension due to autonomic dysfunction 0.4229781183787698 0.8349589717202985 0.4037408093579748 1.0 1.0 10 O43681,Q9NZJ7 2 |
| Bilateral tonic clonic seizure with generalized onset 0.4229060631363256 0.8345885227044487 0.4039494265316272 1.0 1.0 10 Q05086 1 |
| Abnormal response to endocrine stimulation test 0.7816721770247927 0.8326431330511482 0.4050460251432313 1.0 1.0 3 Q13423 1 |
| Vocal cord paralysis 0.4708720378621689 0.8261762039271707 0.4087041448248527 1.0 1.0 21 Q8TB36,Q9NR77,P50402 3 |
| Morphological abnormality of the pyramidal tract 0.461591090298805 0.8241984455545928 0.409826810139247 1.0 1.0 19 Q9H9P8,O95831,P35637,Q9Y619,Q15056,O75569 6 |
| Upper limb asymmetry 0.7747119466343246 0.8237162273124733 0.4101008168489808 1.0 1.0 2 P07437 1 |
| Abnormal larynx physiology 0.4385917608680089 0.8214941981080986 0.4113648275317727 1.0 1.0 14 Q9UHD9,O95292,P35637,Q99700 4 |
| Large beaked nose 0.4064896041360834 0.8213234722306226 0.4114620412294605 1.0 1.0 7 O75792,Q12797 2 |
| Mixed demyelinating and axonal polyneuropathy 0.5662690098532696 0.815945497300663 0.4145313087371454 1.0 1.0 5 P03886,P00403,P07196 3 |
| Facial capillary hemangioma 0.7722862340812621 0.8137542814668426 0.4157857308190937 1.0 1.0 2 P16435 1 |
| Abnormal lung lobation 0.439372767950251 0.8026871577527694 0.4221555774828123 1.0 1.0 15 Q14739,Q9UHX1,Q969N2,P53992,O43683 5 |
| Epispadias 0.5621686239985766 0.7984117059346785 0.4246316124140805 1.0 1.0 5 P53701 1 |
| Delusions 0.4607091379756206 0.7978641592604986 0.4249493240832636 1.0 1.0 20 Q13144,Q9BQE5,Q9NZJ7,Q9NR50 4 |
| Hiatus hernia 0.4017534933230745 0.7967575890308276 0.4255918305883299 1.0 1.0 7 Q8NCH0 1 |
| Subependymal cysts 0.7674348089751373 0.7939214370115228 0.4272411690321531 1.0 1.0 2 O00330 1 |
| Curly hair 0.4191392720290993 0.7919134224462898 0.428411159983864 1.0 1.0 11 Q9Y5P4,Q6PGP7 2 |
| Hemianopia 0.4098633469220091 0.7911720078473914 0.4288436238106397 1.0 1.0 9 O00170,P03886,P35240,P35222,P00403 5 |
| Tremor by anatomical site 0.4931695017956646 0.7861114519588209 0.4318021957279809 1.0 1.0 28 Q96KR1,Q9Y4W6,Q92734,Q9NR77,P35637,Q05086,Q16637 7 |
| Esophageal neoplasm 0.397724555268958 0.7759303869897467 0.4377900896070055 1.0 1.0 7 P54132,Q8N9N2 2 |
| Hemorrhage of the eye 0.4109992862754623 0.7736378801550872 0.4391449646616219 1.0 1.0 10 P29992,Q9Y487,P38606,P35222,P49792 5 |
| Motor neuron atrophy 0.4593252782750316 0.7694303663306067 0.4416378674997308 1.0 1.0 21 Q9UHD9,P31483,Q92734,P35637,Q16637,O95292,P22626,Q99700 8 |
| Increased circulating acth level 0.5551738786801097 0.7686494170981673 0.4421014607740707 1.0 1.0 5 Q9UER7 1 |
| Progressive distal muscle weakness 0.7272631286363642 0.7673230156877727 0.4428894875356737 1.0 1.0 4 O14908 1 |
| Recurrent fever 0.4366337329228451 0.7666104112507302 0.4433131835067008 1.0 1.0 16 P09417,P61978,Q9NR77 3 |
| Adrenal hyperplasia 0.3957599430173317 0.7658000203935836 0.4437953020820036 1.0 1.0 7 P16435,P21281 2 |
| Morphological abnormality of the corticospinal tract 0.4205077584503683 0.753130745099617 0.4513713507304397 1.0 1.0 13 Q15056 1 |
| Lower limb hyperreflexia 0.4423615894574497 0.7510201192623084 0.452640547642511 1.0 1.0 18 Q15233,Q9Y4W6,P13073,Q05086 4 |
| Abnormal circulating non proteinogenic amino acid concentration 0.3922331700647882 0.7476594079581242 0.4546656212506228 1.0 1.0 7 Q9Y619 1 |
| Abnormal csf protein level 0.4137450930738239 0.7417445728022121 0.4582421084842347 1.0 1.0 12 P03886,Q9NR77,Q9NZJ7 3 |
| Short umbilical cord 0.7565488503556611 0.7380268185176513 0.4604981523205649 1.0 1.0 3 O75844 1 |
| Small placenta 0.7565488503556611 0.7380268185176513 0.4604981523205649 1.0 1.0 3 O75844 1 |
| Dyschromatopsia 0.3947849831338278 0.7373704113065832 0.460897123970228 1.0 1.0 8 Q9H061 1 |
| Cutaneous syndactyly 0.4038426553657683 0.7372942025130977 0.4609434570437933 1.0 1.0 10 P27635,P98175,Q9Y619 3 |
| Steppage gait 0.448177027296628 0.7363968710111694 0.4614892083127839 1.0 1.0 20 Q9NR77,O43819,P07196,Q96BR5,O15269,Q8TB36 6 |
| Vitiligo 0.3898750029317203 0.7355637237603899 0.4619962461007127 1.0 1.0 7 P03886,P49327,P50851 3 |
| Large intestinal polyposis 0.3989555414366031 0.7354761298440647 0.4620495721751518 1.0 1.0 9 Q15437 1 |
| Neoplasm of head and neck 0.3938830818088081 0.7327699088768292 0.4636987772311152 1.0 1.0 8 P54132,Q8N9N2 2 |
| Abnormality of skull ossification 0.4196423497285669 0.7264602120845552 0.467556690474598 1.0 1.0 14 O75844,Q32P28 2 |
| Central adrenal insufficiency 0.3834207747270083 0.7258767770554445 0.4679143142038517 1.0 1.0 6 P35222,Q9NSE4 2 |
| Moderate global developmental delay 0.4060343884160063 0.7255961738801923 0.4680863673491591 1.0 1.0 11 P31040,O95831,O43175 3 |
| Fibrosarcoma 0.7504548211037001 0.7255388354221046 0.4681215290031937 1.0 1.0 2 Q13126 1 |
| Cortical cataract 0.7151092233009728 0.7237057782757633 0.4692463849518784 1.0 1.0 4 Q9H6K4,Q01968,Q99797 3 |
| Abnormal morphology of myocardial trabeculae 0.7150782085487388 0.7235952151932563 0.4693142797802898 1.0 1.0 4 Q15233,Q99797 2 |
| Atypical absence seizure 0.752201450596242 0.7219408347688736 0.4703308539901818 1.0 1.0 3 Q05086 1 |
| Calvarial hyperostosis 0.5429582501794653 0.7171714321526115 0.4732683241911426 1.0 1.0 5 P10644,P22626 2 |
| Patchy alopecia 0.7505020970939706 0.7156782097450682 0.4741900687125573 1.0 1.0 3 O75844 1 |
| Periodontitis 0.399452005111957 0.7151237232463621 0.4745325961718385 1.0 1.0 10 P06748,Q5JRA6 2 |
| Fetal akinesia sequence 0.542466373546283 0.7151130945232306 0.4745391632666442 1.0 1.0 5 P06753 1 |
| Cupped ribs 0.3947927397123417 0.7143750035293788 0.4749953244518319 1.0 1.0 9 P49585,O95831 2 |
| Spastic paraparesis 0.4478134696899695 0.7134304919427329 0.4755794103260278 1.0 1.0 21 O75792,Q9Y4W6,Q8N0X7,Q6DKK2 4 |
| Cellular immunodeficiency 0.403161835121104 0.7111735512113302 0.4769766962026289 1.0 1.0 11 P06748,Q15437 2 |
| Prenatal maternal abnormality 0.4163886032790693 0.7103132036118331 0.4775099337745949 1.0 1.0 14 O43772,Q14739,P40939 3 |
| Microretrognathia 0.4251245982153467 0.70968663717174 0.4778984805311692 1.0 1.0 16 Q9UL01,P27635,P38919,Q9UHX1,Q8NCH0,Q15427 6 |
| Submucous cleft of soft and hard palate 0.4547272091850637 0.7049823702088454 0.4808212075699885 1.0 1.0 23 P62266,Q7LGA3,Q9Y619,O75844,Q15392,Q08J23 6 |
| Progressive spastic quadriplegia 0.3881823659526712 0.7037924247683167 0.4815620519216685 1.0 1.0 8 O43681,Q9NZJ7 2 |
| Progressive sensorineural hearing impairment 0.4012395561437634 0.7015476757270848 0.4829612925352806 1.0 1.0 11 O14908 1 |
| Abnormal metabolic brain imaging by mrs 0.4229493319945763 0.6990051441488366 0.4845488160338949 1.0 1.0 16 Q9NZJ7,O00429,P03886,Q15046,O43819,P53597 6 |
| Upper limb amyotrophy 0.4270526650115188 0.6975425496214142 0.4854633207549055 1.0 1.0 17 Q8TB36,Q9NR77 2 |
| Glomerulopathy 0.3957660438910257 0.696593469864622 0.4860572436834502 1.0 1.0 10 P49327,Q01968,O60488,Q9NZ08 4 |
| Iron deficiency anemia 0.3773151872710388 0.6946251261864879 0.4872902616960908 1.0 1.0 6 Q9UER7,P49327 2 |
| Ankylosis 0.5365718036922676 0.6905406487016179 0.4898542566400521 1.0 1.0 5 O75844 1 |
| Slow decrease in visual acuity 0.3853094828663093 0.6892595678491057 0.4906599368874778 1.0 1.0 8 P03886,P35222,O00429 3 |
| Petechiae 0.3892619317869764 0.6864900415512026 0.4924041419486129 1.0 1.0 9 P06748,P40763 2 |
| Abnormal pleura morphology 0.4464838245847046 0.6861703545121031 0.4926056897516488 1.0 1.0 22 Q9UL01,Q02750,Q14739,Q9H078,O15460,P22681,Q9NZ08,Q8NFG4,Q8NCH0,Q6NUK1 10 |
| Aplasia hypoplasia of the patella 0.375543711821413 0.6855990106220812 0.4929660056092013 1.0 1.0 6 Q9Y619,Q96AY3 2 |
| Decreased circulating igg subclass level 0.7422818879895818 0.6855928876468784 0.492969867804945 1.0 1.0 3 P17812 1 |
| Pathologic fracture 0.424524080317141 0.6852089970711849 0.4932120472527093 1.0 1.0 17 Q01968,O75845,Q13126,O15269,P09651,P22626 6 |
| Severe varicella zoster infection 0.7039349495081558 0.6841337060881405 0.4938907394979623 1.0 1.0 4 P17812 1 |
| Decreased circulating iga level 0.3973864170063902 0.6823180106896891 0.4950378868776139 1.0 1.0 11 P54132,Q969N2,P00813,P50851 4 |
| Titubation 0.3972193334407328 0.6814861890323461 0.4955639027872425 1.0 1.0 11 Q5JRX3 1 |
| Hepatic necrosis 0.3791066010395287 0.6807167138093074 0.4960507584966249 1.0 1.0 7 P40939 1 |
| Pelvic girdle muscle weakness 0.3786179597164242 0.6782443229204902 0.4976167940121885 1.0 1.0 7 O14979 1 |
| Increased nuchal translucency 0.41820663529256 0.675811193421746 0.4991605270125481 1.0 1.0 16 Q15056,O43683 2 |
| Female reproductive system neoplasm 0.4397079056594273 0.6744132345949088 0.500048630985835 1.0 1.0 21 P63167,O43683,Q15437 3 |
| Severe lactic acidosis 0.7007416570746097 0.6729261993112146 0.500994243449773 1.0 1.0 4 Q70HW3 1 |
| Peripheral hypermyelination 0.7387627628405207 0.6728229768826673 0.501059918211124 1.0 1.0 3 Q9NR77 1 |
| Scotoma 0.4087741001073331 0.6727600088388553 0.5010999835585781 1.0 1.0 14 P03886,Q9H061,Q8WWV3 3 |
| Disproportionate short limb short stature 0.4391286440864896 0.6716394492981073 0.5018132576812384 1.0 1.0 21 Q03164,Q32P28,Q14739,P10644,Q7LGA3,P49585,O75718,Q15392 8 |
| Bowing of the arm 0.3721342359482544 0.6682828668265477 0.5039530477954672 1.0 1.0 6 Q32P28 1 |
| Tetraplegia 0.4122373120761669 0.6681329084878214 0.5040487570760905 1.0 1.0 15 O43681,Q8NBF2,O95831,Q92734,Q13423 5 |
| Nuclear cataract 0.6987793907651072 0.6660626221084893 0.5053710744441404 1.0 1.0 4 P08670 1 |
| Skin ulcer 0.4673565690894061 0.6637092403528779 0.5068764241087353 1.0 1.0 28 Q8IZA0,P06748,P48643,P48735,Q01968,Q14739,O75874,O15460,O15269 9 |
| Vascular tortuosity 0.7343844754396612 0.6624780895680922 0.5076648722347628 1.0 1.0 2 P03886 1 |
| Infectious encephalitis 0.3932008000793219 0.6615333690573936 0.5082703222216356 1.0 1.0 11 Q14739,Q9H9P8,Q9NZ08 3 |
| Attenuation of retinal blood vessels 0.384123346858717 0.6607511099966376 0.5087719408206386 1.0 1.0 9 P50213,P38435 2 |
| Broad alveolar ridges 0.6968550801791134 0.6593494625304883 0.5096713868008704 1.0 1.0 4 A1X283,P21281 2 |
| Abnormal waist to hip ratio 0.3748350806599358 0.6591568224373016 0.5097950701841287 1.0 1.0 7 Q9Y6M1,O00330 2 |
| Chronic lung disease 0.3786668212544036 0.6558550645072423 0.5119173828820927 1.0 1.0 8 P54132,P50851 2 |
| Vasculitis 0.3828770280491939 0.6545345858764969 0.512767452309387 1.0 1.0 9 O15460 1 |
| Hyperactive deep tendon reflexes 0.3827744345820106 0.6540233323763357 0.5130967735588734 1.0 1.0 9 Q9NR77,Q99700 2 |
| Progressive leukoencephalopathy 0.7335468049645522 0.6540226990316876 0.5130971815928049 1.0 1.0 3 Q5JTZ9 1 |
| Generalized hypopigmentation 0.391039852073825 0.650847747617956 0.515144774425556 1.0 1.0 11 Q01968,Q96EV8,O75312,Q6PGP7,Q86YV9 5 |
| Upper eyelid coloboma 0.7313523347483333 0.6507801643933334 0.5151884063476406 1.0 1.0 2 Q13428 1 |
| Absent nipple 0.7313523347483333 0.6507801643933334 0.5151884063476406 1.0 1.0 2 P10586 1 |
| Congenital craniofacial dysostosis 0.731352334748333 0.6507801643933324 0.5151884063476413 1.0 1.0 2 P10644 1 |
| Insulin resistance 0.4253629615642896 0.6471685682924321 0.5175228515834842 1.0 1.0 19 Q9H0F7,P02545,O00330,Q9Y6M1,O75844,P31751,P54132,P40763 8 |
| Mutism 0.4032896200624035 0.6459351087381179 0.5183213812474536 1.0 1.0 14 P53701,P35637 2 |
| Impaired antigen specific response 0.3854758947417482 0.6453047463686978 0.5187297174805949 1.0 1.0 10 P17812,P50851 2 |
| Scleral staphyloma 0.6922646357197654 0.6434075741289647 0.5199596700555715 1.0 1.0 4 Q969N2,P40939 2 |
| Anteriorly placed anus 0.3846379450856297 0.6411594328440567 0.5214191034194131 1.0 1.0 10 P53701,Q16531,P16435 3 |
| Acquired abnormal hair pattern 0.6911472396517307 0.6395428067396689 0.5224698754179324 1.0 1.0 4 O75844 1 |
| Demyelinating peripheral neuropathy 0.4189619118471985 0.6372726762917603 0.5239472455861258 1.0 1.0 18 P41440,P03886,Q9Y4W6,Q9NR77,P07196,O75792 6 |
| Smooth muscle antibody positivity 0.7277137659187395 0.6368319427237166 0.524234317099086 1.0 1.0 2 Q96J02 1 |
| Fibroadenoma of the breast 0.7277137659187394 0.6368319427237159 0.5242343170990864 1.0 1.0 2 P10644 1 |
| Rotary nystagmus 0.5232150849779662 0.6355597479025055 0.5250634122478668 1.0 1.0 5 Q9Y4R8,O94905 2 |
| Abnormal platelet aggregation 0.5230599968942492 0.6349274944622118 0.5254757042062261 1.0 1.0 5 Q96EV8,Q86YV9 2 |
| Acute coronary syndrome 0.4135125411877483 0.6319622881519258 0.5274115199772946 1.0 1.0 17 O75844,Q15056 2 |
| Bone spicule pigmentation of the retina 0.3727354512674058 0.6262836608518575 0.5311289014231411 1.0 1.0 8 Q9Y5Y0,P50213 2 |
| Abnormal talus morphology 0.4206456713009775 0.6246643688951806 0.5321913632559685 1.0 1.0 19 Q9UHX1,P98175,P16435,O75844,Q99567 5 |
| Polycystic liver disease 0.7238609627564924 0.6195341409664642 0.5355645378682137 1.0 1.0 3 Q9UGP8 1 |
| Anisopoikilocytosis 0.723688201395216 0.6189241792639176 0.535966308932236 1.0 1.0 3 O75845,Q05682 2 |
| Abnormal platelet function 0.3712003920271461 0.6186730870889849 0.5361317430232764 1.0 1.0 8 Q96EV8,Q86YV9 2 |
| Periorbital fullness 0.4191635278495033 0.6176259925788464 0.536821906620345 1.0 1.0 19 P62266,P40855,P38159,Q7LGA3,P07437,O60488 6 |
| Cough 0.4401319459143409 0.6156667935724479 0.5381144577439931 1.0 1.0 24 P06748,Q92734,Q9NR77,O15460 4 |
| Positive romberg sign 0.383326344379045 0.6129759601442766 0.5398922353578786 1.0 1.0 11 P41440,Q9Y5Y0,P18887,P07196,Q8IV08 5 |
| Aplasia hypoplasia of the abdominal wall musculature 0.3603521554341271 0.6090721389830104 0.5424766238329346 1.0 1.0 6 Q8WVQ1,P22681,P62070,Q6NUK1,O75369 5 |
| Abnormal pupillary function 0.369072516456615 0.6081539557203752 0.5430853695919926 1.0 1.0 8 Q9NR77 1 |
| Stomatitis 0.3862595736168597 0.6058491824632759 0.5446149070225461 1.0 1.0 12 P06748,O75083,Q9NZ08,P10644,P40763 5 |
| Primary adrenal insufficiency 0.3904879407588946 0.605103807686713 0.545110024413219 1.0 1.0 13 P40855,Q13423 2 |
| Axonal regeneration 0.6810287857025965 0.6048398239025738 0.5452854299900047 1.0 1.0 4 Q8TB36,P07196 2 |
| Crumpled long bones 0.7183141297756226 0.6012694490312251 0.547660534541853 1.0 1.0 2 O75718 1 |
| Increased total bilirubin 0.6793439874398393 0.5991148036826779 0.5490963304968395 1.0 1.0 4 Q9UGP8,P23786 2 |
| Hallux valgus 0.4021012833636926 0.5981496644967366 0.5497400742008038 1.0 1.0 16 Q15233,Q15056,Q96J02,Q15427 4 |
| Abnormality of tibia morphology 0.3972673155042726 0.5957854582359782 0.5513185594896646 1.0 1.0 15 P49585,P16435,O95831,Q32P28 4 |
| Scaling skin 0.3664643033009369 0.5953103163217833 0.5516360613013469 1.0 1.0 8 O75844,P50851 2 |
| Spastic gait 0.4272504622699635 0.5952419473135852 0.5516817545902557 1.0 1.0 22 Q96KR1,Q8N0X7,Q9Y619,O94905,Q01433 5 |
| Coxa vara 0.3970199876024654 0.5946041903271159 0.5521080784191994 1.0 1.0 15 P49585,Q9Y487,O95831,Q96AY3 4 |
| Limb pain 0.366265366093397 0.5943330102704655 0.5522894041810726 1.0 1.0 8 O15269 1 |
| Autoamputation 0.5122389744398738 0.5911946122090033 0.5543900323150672 1.0 1.0 5 P48643 1 |
| Thoracolumbar scoliosis 0.3611821714910598 0.5911320137238396 0.554431971168847 1.0 1.0 7 P27635,P21281 2 |
| Tissue ischemia 0.417524905468539 0.5896689712387222 0.5554126015969463 1.0 1.0 20 O75844,Q15056,O15460 3 |
| Delayed cranial suture closure 0.4511527330109699 0.5888319045354746 0.5559740412812757 1.0 1.0 28 Q32P28,P40855,Q9Y487,P38606,O75844,Q8NCH0,Q08J23 7 |
| Abnormality of the vestibulocochlear nerve 0.7148923263572897 0.5881213232076985 0.5564508615752 1.0 1.0 3 P10644,Q15046 2 |
| Neoplasm of the inner ear 0.7148923263572897 0.5881213232076985 0.5564508615752 1.0 1.0 3 P10644,Q15046 2 |
| Metatarsus adductus 0.381988327348978 0.5852084764740284 0.5584075460084248 1.0 1.0 12 A1X283,Q15392,Q08J23 3 |
| Exercise induced rhabdomyolysis 0.7137659187386303 0.5843165418086433 0.5590073649911909 1.0 1.0 2 P04075 1 |
| Metaphyseal cupping 0.6745436915108856 0.5828904104316012 0.5599670765783666 1.0 1.0 4 Q14739,O95831 2 |
| Spondyloepiphyseal dysplasia 0.7122498483929665 0.5787039446186003 0.562788953897128 1.0 1.0 2 P27635 1 |
| Fibrous tissue neoplasm 0.4108469844482535 0.5784401585041914 0.5629669878783989 1.0 1.0 19 Q13126,Q15392 2 |
| Atlantoaxial dislocation 0.7119777633336478 0.5780271474244728 0.5632457910302604 1.0 1.0 3 Q9UL01 1 |
| Limited hip movement 0.3977084286342098 0.5773031309824366 0.5637346989792595 1.0 1.0 16 Q96AY3,Q7LGA3,Q9Y4R8,O94905,O75844,P06753 6 |
| Periventricular cysts 0.3582052100454626 0.5765006621357374 0.5642768224407704 1.0 1.0 7 Q01968 1 |
| Joint contractures involving the joints of the feet 0.3662461420886396 0.572697129617212 0.5668497812982309 1.0 1.0 9 Q8IWS0 1 |
| Excessive salivation 0.4593093771595451 0.5693910934254474 0.5690907597928361 1.0 1.0 31 Q15233,P09417,Q9NR77,Q05086,Q8N0X7,Q9Y5P4 6 |
| Basal ganglia gliosis 0.3609464182437939 0.5683302342113744 0.5698107530351533 1.0 1.0 8 O43819 1 |
| Hypoparathyroidism 0.3908542463529982 0.565319518601093 0.5718564549506093 1.0 1.0 15 P03886,Q969N2,P40939,Q08J23 4 |
| Unusual infection by anatomical site 0.3906603762795965 0.5644039839281421 0.5724792281840065 1.0 1.0 15 Q14739,Q9H9P8,O15460,Q9NZ08 4 |
| Overtubulated long bones 0.7079229993059959 0.5640809083832843 0.5726990703927983 1.0 1.0 3 O75844 1 |
| Short lingual frenulum 0.667948974446238 0.5608190635956737 0.5749208894866773 1.0 1.0 4 O75844 1 |
| Premature loss of teeth 0.3811579527124397 0.5604052662195462 0.5752030403959631 1.0 1.0 13 Q5JRA6,Q969N2,O75844 3 |
| Soft tissue sarcoma 0.4608784344035283 0.557993093501619 0.5768491003133611 1.0 1.0 32 Q13126,P63167,Q15392,O43683 4 |
| Maturity onset diabetes of the young 0.7060391186822359 0.5576405356709009 0.577089870648293 1.0 1.0 3 P61457 1 |
| Aplasia hypoplasia of the eyelid 0.3804221357697872 0.5569122379179104 0.5775873928153068 1.0 1.0 13 Q9Y3Z3,O43175,O75792,Q15427,Q13428 5 |
| Abnormal circulating copper concentration 0.3531372479789644 0.551777787345495 0.5811006076689211 1.0 1.0 7 O43819 1 |
| Sensorimotor neuropathy 0.4553313153730821 0.551580919847502 0.581235511814711 1.0 1.0 31 Q9NZJ7,P41440,P03886,Q9Y4W6,O95831,Q92734,Q9NR77,P40939 8 |
| Gastrointestinal inflammation 0.4046986016645209 0.5498322934683753 0.5824344067302547 1.0 1.0 19 Q9NQX3,P50851,P08183,Q6PGP7 4 |
| Severe muscular hypotonia 0.466541974258909 0.5468280160456567 0.5844968936263357 1.0 1.0 34 P06753,Q7L7X3,P40855,Q01105,O95831,Q9NWM8,Q08209,Q8N9N2 8 |
| Eyelid coloboma 0.3649031059162649 0.5451419770249362 0.5856558741494036 1.0 1.0 10 Q13428,O75792,Q15427 3 |
| Limited elbow extension 0.3646926838929287 0.5441366954509614 0.5863474103971968 1.0 1.0 10 Q96J02,P16435,Q15427 3 |
| Aplasia hypoplasia of the sternum 0.6628992503229743 0.5440964736403328 0.5863750869786295 1.0 1.0 4 P98175 1 |
| Multicystic kidney dysplasia 0.4074452576084111 0.5428951351955021 0.5872020056473073 1.0 1.0 20 O43683 1 |
| Abnormal eosinophil morphology 0.3508622620869744 0.5407598251852325 0.5886731371641123 1.0 1.0 7 Q9Y5S9,P40763,P00813 3 |
| Achilles tendon contracture 0.3718367079701443 0.5367880134673583 0.5914140522990494 1.0 1.0 12 P50402 1 |
| Epiphyseal stippling 0.3713818135386336 0.5346408283346175 0.592898245437907 1.0 1.0 12 P40855,Q14739,P38435,P10644 4 |
| Pituitary growth hormone cell adenoma 0.6596395027262122 0.5333866411671011 0.5937659629653653 1.0 1.0 4 P10644 1 |
| Abnormal midbrain morphology 0.362231142542621 0.5324090680918602 0.5944427059779309 1.0 1.0 10 Q96KP1,Q8WXW3,Q99700 3 |
| Knee flexion contracture 0.4173215241349283 0.5301991509909352 0.5959738596370421 1.0 1.0 23 Q86XL3,P49902,Q96AY3,P27635,P31040,Q7LGA3,Q9Y4R8,O94905,P23786,P06753 10 |
| Abnormal circulating citrulline concentration 0.6579996554463886 0.5280248264421831 0.59748210478484 1.0 1.0 4 Q9Y619 1 |
| Aortic regurgitation 0.4160011687534921 0.5242310158904341 0.6001178708210104 1.0 1.0 23 O75844,Q6PGP7,O43683 3 |
| Dysmenorrhea 0.697089144936326 0.5236888469030508 0.6004949742024948 1.0 1.0 2 P02545 1 |
| Abnormality of bladder morphology 0.3600232459535058 0.5219416511219983 0.601710957143299 1.0 1.0 10 Q15056,Q9NWM8 2 |
| Psychotic mentation 0.3425291845935456 0.5217343664935171 0.6018552931639438 1.0 1.0 6 P03886,P48637,P00403 3 |
| Abnormal morphology of the abdominal musculature 0.3594372754633622 0.5191720449955315 0.6036407715110874 1.0 1.0 10 P09651,Q8NCH0,P22681 3 |
| Open mouth 0.4438808184998666 0.5190184288283965 0.6037478900202788 1.0 1.0 30 Q15233,Q86XL3,P62266,P61978,P30153,Q01968,P67870,Q969N2,P21281,Q10713 10 |
| Decreased plasma carnitine 0.3636587129312298 0.5186485153940413 0.6040058704102993 1.0 1.0 11 O43772,P40939 2 |
| Retinal telangiectasia 0.6550759333552609 0.5185089064776202 0.6041032475781201 1.0 1.0 4 P03886 1 |
| Hip contracture 0.367717176741574 0.5174183855915288 0.6048641279751787 1.0 1.0 12 Q96AY3,Q7LGA3,Q9Y4R8,O94905,P06753 5 |
| Lumbar scoliosis 0.6544444192237711 0.5164609602608347 0.6055324987295276 1.0 1.0 4 P27635 1 |
| Cerebellar cortical atrophy 0.6537882073671534 0.5143357577178187 0.6070172657733883 1.0 1.0 4 O75845 1 |
| Peripheral pulmonary artery stenosis 0.3583060204536429 0.513835310107931 0.6073671385487083 1.0 1.0 10 Q15056 1 |
| Glioma 0.3744884379182228 0.5089112451313198 0.6108144374280928 1.0 1.0 14 O75874 1 |
| Abnormality of the 5th toe 0.3485645959852821 0.508839764218375 0.6108645444907728 1.0 1.0 8 Q14739,O75845,Q10713 3 |
| Postaxial foot polydactyly 0.3485645959852821 0.508839764218375 0.6108645444907728 1.0 1.0 8 Q14739,O75845,Q10713 3 |
| Ketoacidosis 0.352103327731638 0.505035925442346 0.6135336034783516 1.0 1.0 9 P53985 1 |
| Posterior embryotoxon 0.4028657050712323 0.5028689651630166 0.6150564021305067 1.0 1.0 21 P53701,P40855 2 |
| Steroid resistant nephrotic syndrome 0.489320060822341 0.5013759493680622 0.6161065628248479 1.0 1.0 5 Q8N1F7 1 |
| Colitis 0.3465129966998108 0.4991370759780021 0.6176828197315372 1.0 1.0 8 Q6PGP7 1 |
| Neoplasm of fatty tissue 0.3637535592324173 0.4989472966593412 0.6178165131171132 1.0 1.0 12 Q8NFG4,Q15437 2 |
| Mandibular aplasia 0.6489957683957996 0.4989039197342308 0.6178470725340941 1.0 1.0 4 P53701 1 |
| Abnormality of the common coagulation pathway 0.3754851139336578 0.4938412338550422 0.6214183098529977 1.0 1.0 15 P06748,Q4KMQ2,P49257,P10644,P40763,P38435 6 |
| Colon cancer 0.379280091557464 0.4917419785276357 0.6229017582872207 1.0 1.0 16 Q8NFG4,P54277,Q8WX93,P10644,O43683 5 |
| Omphalocele 0.3616695959304883 0.4893037663940676 0.6246266549682438 1.0 1.0 12 Q14739,P62258 2 |
| Slurred speech 0.3443710245167306 0.489057558333144 0.6248009477850129 1.0 1.0 8 Q8N0X7 1 |
| Tritanomaly 0.6852288416770054 0.4882584473007913 0.6253667899650701 1.0 1.0 3 Q9H6K4 1 |
| Anomalous trichromacy 0.6852288416770054 0.4882584473007913 0.6253667899650701 1.0 1.0 3 Q9H6K4 1 |
| Dilation of lateral ventricles 0.4161945026275983 0.4879026369509501 0.6256188066257851 1.0 1.0 25 Q7L7X3,Q969M3,Q01105,P67870,Q08209 5 |
| Elevated creatine kinase after exercise 0.6452313798606655 0.4868945178084803 0.6263330841434274 1.0 1.0 4 O43772 1 |
| Retinal thinning 0.68363977325817 0.4831006505502561 0.629024272176181 1.0 1.0 3 P51648 1 |
| Prominent nose 0.389969888543012 0.4827285264595324 0.6292885055670441 1.0 1.0 19 Q15233,P40855,P38919,Q8N0X7,P54132,Q08J23 6 |
| Increased intracranial pressure 0.3939123322362938 0.48156578330396 0.6301144379805341 1.0 1.0 20 Q15437,P49327,P29992,Q9NZJ7,P35240,P10644,Q9NZ08,P54277,P35222,P43246,P52701 11 |
| Neurodegeneration 0.4183182329268969 0.4790707635809422 0.6318882878642935 1.0 1.0 26 Q9UHD9,Q9Y3Z3,Q6DKK2,P35637,O75792,Q5JTZ9,O95292,Q99700 8 |
| Chronic pulmonary obstruction 0.3460529369103539 0.4767366395064181 0.6335496688743634 1.0 1.0 9 P54132,P09601 2 |
| Abnormality of metacarpophalangeal joint 0.6417112654867076 0.475756141236555 0.6342481192872369 1.0 1.0 4 Q15233 1 |
| Abnormal pupillary light reflex 0.4825033059277501 0.4755036011352451 0.6344280670876794 1.0 1.0 5 Q9NR77 1 |
| Slow pupillary light response 0.4825033059277501 0.4755036011352451 0.6344280670876794 1.0 1.0 5 Q9NR77 1 |
| Aplasia hypoplasia of the palmar creases 0.6402050204751941 0.4710176915502971 0.6376281011619143 1.0 1.0 4 Q9UL01,Q8NCH0 2 |
| Abnormal circulating fatty acid concentration 0.3872939968268736 0.4707760487641313 0.6378006701797312 1.0 1.0 19 O43772,P40855,P40939 3 |
| Pituitary prolactin cell adenoma 0.6796661397750473 0.4702951667677854 0.6381441501059264 1.0 1.0 3 P10644 1 |
| Elevated circulating growth hormone concentration 0.6796661397750473 0.4702951667677854 0.6381441501059264 1.0 1.0 3 P10644 1 |
| Shoulder girdle muscle weakness 0.3531083863527941 0.469638464173685 0.6386133390123627 1.0 1.0 11 Q9NZJ7,O14979 2 |
| Abnormality of the parathyroid gland 0.4113444650088933 0.4666516045499952 0.6407491597919259 1.0 1.0 25 P48735,P03886,O75874,Q8NFG4,Q969N2,P40939,P53992,Q08J23 8 |
| Sudden loss of visual acuity 0.6778367642518413 0.4644447296933577 0.6423291495474805 1.0 1.0 3 P35222 1 |
| Cholestatic liver disease 0.3299194697273429 0.4619528636478562 0.6441151231947746 1.0 1.0 6 Q9UBM7,P40939 2 |
| Osteolysis 0.426621631663873 0.4617028119092737 0.6442944543310583 1.0 1.0 29 P48735,O75874,O75844,O43683 4 |
| Contractures involving the joints of the feet 0.3973783102994128 0.4599501356656599 0.6455520125620979 1.0 1.0 22 Q8IZA0,O94905,Q8IWS0,P50402 4 |
| Dermal atrophy 0.4302202162169537 0.4596625523314909 0.645758452679889 1.0 1.0 30 P53701,Q9UL01,O75844,Q9NWM8,Q15392 5 |
| Lewy bodies 0.3377394890190954 0.4581952070925358 0.6468122029918741 1.0 1.0 8 Q6Y7W6,Q99700 2 |
| Fair hair 0.4773492001751126 0.4562272726854089 0.6482265556332414 1.0 1.0 5 Q05086 1 |
| Large basal ganglia 0.375366693170156 0.4551220131673678 0.6490214620247996 1.0 1.0 17 Q96N66,Q96C86,Q08J23 3 |
| Alternating esotropia 0.6744669571483195 0.4537434717706937 0.6500134741062134 1.0 1.0 3 P51797 1 |
| Impaired vibration sensation in the lower limbs 0.3664948715465993 0.4531798233524413 0.6504192599691065 1.0 1.0 15 O94905,Q9NR77,O43819 3 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.6737316760638972 0.4514216652222171 0.6516856714653252 1.0 1.0 3 Q13286 1 |
| Personality changes 0.3786221174481518 0.4509321000085981 0.6520384872371165 1.0 1.0 18 Q13144,Q9NR50,Q99700 3 |
| Abnormality of urine calcium concentration 0.3614373014288472 0.4494829883149565 0.6530832772334856 1.0 1.0 14 Q969N2,Q9UNF1,Q15056 3 |
| Limitation of neck motion 0.6710788223733067 0.443084472930853 0.6577046356404228 1.0 1.0 3 O94905 1 |
| Schizophrenia 0.3933457070792061 0.4423779969794001 0.6582156983591909 1.0 1.0 22 Q9BQE5,O43681,Q9NZJ7,Q9NTZ6 4 |
| Abnormal tricuspid valve physiology 0.3843573251300581 0.4394281057770904 0.6603513651113138 1.0 1.0 20 P53701,P40939,Q15233,O95235 4 |
| Shortening of all distal phalanges of the fingers 0.3463196984604649 0.4387930956727763 0.660811463559799 1.0 1.0 11 Q8IWS0,P16435 2 |
| Extramedullary hematopoiesis 0.6282377453627086 0.4339809689186136 0.6643022609346643 1.0 1.0 4 P98175 1 |
| Hypoplastic facial bones 0.3578541172686181 0.4335188654938769 0.6646378635856782 1.0 1.0 14 Q13428,P16435,Q15056 3 |
| Elevated systolic blood pressure 0.6707095209217718 0.4332727891796702 0.6648166039692462 1.0 1.0 2 P35611 1 |
| Elevated diastolic blood pressure 0.6707095209217718 0.4332727891796702 0.6648166039692462 1.0 1.0 2 P35611 1 |
| Elevated mean arterial pressure 0.6707095209217718 0.4332727891796702 0.6648166039692462 1.0 1.0 2 P35611 1 |
| Hepatocellular adenoma 0.6676335730718856 0.4323511799844722 0.6654861947688318 1.0 1.0 3 O00330 1 |
| Abnormal cardiac ventricular function 0.3822040983895131 0.4300791049051207 0.6671380991099336 1.0 1.0 20 P03886,O75844,Q15233,O95235 4 |
| Decreased specific antibody response to vaccination 0.4700912990240544 0.4295240503784894 0.667541895309403 1.0 1.0 5 P17812 1 |
| Airway obstruction 0.3695144277790037 0.4293262002033096 0.6676858524657816 1.0 1.0 17 P54132,P16435,P09601,O75844 4 |
| Abnormal upper motor neuron morphology 0.3398683265675311 0.4289234298143465 0.6679789487685936 1.0 1.0 10 O94905,P35637 2 |
| Chronic hepatic failure 0.6659810978332843 0.4272414060794089 0.6692035055230079 1.0 1.0 3 P40939 1 |
| Emg chronic denervation signs 0.3603893491741128 0.4261140467020883 0.6700247452048558 1.0 1.0 15 P22626,Q9NZJ7,O43819 3 |
| Toe walking 0.4016576443521464 0.4249771116412488 0.670853360062841 1.0 1.0 25 O43681,Q9NZJ7,P50402,O95831,P35637,P40939 6 |
| Hyperhomocystinemia 0.6252433489723954 0.4248895779363442 0.6709171725178862 1.0 1.0 4 P41440 1 |
| Abnormality of skeletal muscle fiber size 0.3842503803567512 0.4210223962260178 0.6737387278065339 1.0 1.0 21 O14908,O95831,P51797,P22626,P06753 5 |
| Severely reduced visual acuity 0.6632976319165498 0.4189973358890132 0.6752180793700404 1.0 1.0 3 P49585 1 |
| Hypoplastic vertebral bodies 0.3246473856405418 0.4180045665977084 0.6759437784165527 1.0 1.0 7 Q6NUQ1 1 |
| Abnormal thyroid stimulating hormone level 0.6655548817465141 0.4164726914753678 0.6770641462845912 1.0 1.0 2 P10644 1 |
| Pleural effusion 0.3370751561033783 0.4164336389194282 0.6770927175170933 1.0 1.0 10 Q14739,Q9NZ08,Q02750,P22681 4 |
| Aplasia hypoplasia of the 5th finger 0.3581405466482769 0.4162647170777392 0.677216307742583 1.0 1.0 15 Q9UHX1,O14497,P13073,P21281 4 |
| Abnormal arterial physiology 0.4116569942896616 0.4155214894876647 0.6777601870722596 1.0 1.0 28 O15460,Q9NZ08,O75792,O75844,Q15056,Q9NWM8 6 |
| Hyperextensible skin 0.3615846678530308 0.4130180398306933 0.6795933967551635 1.0 1.0 16 Q9UL01,Q8NCH0,Q9NWM8 3 |
| Increased connective tissue 0.3277486409840141 0.4127629439223245 0.6797803033411123 1.0 1.0 8 P31751,O95831,P07196,P02545 4 |
| Hypopigmentation of the fundus 0.6610929702779994 0.4122746052769022 0.6801381597738632 1.0 1.0 3 Q9Y619 1 |
| Abnormality of subcutaneous fat tissue 0.361254328080239 0.4115853755945582 0.6806433525260553 1.0 1.0 16 Q9Y487,P38606,O75844 3 |
| Clumsiness 0.3980856961030304 0.4098863804882493 0.6818892965926273 1.0 1.0 25 O00165,O43681,Q9NZJ7,P31483,Q9NR77,Q05086,O43819,Q15067,P06753 9 |
| Abnormal endocrine physiology 0.4643394004671062 0.4087476221709668 0.682724881653338 1.0 1.0 5 Q13423 1 |
| Muscular dystrophy 0.4054337630723775 0.4065049019894027 0.6843716559186837 1.0 1.0 27 O14979,P50402,O43683 3 |
| Slender long bone 0.3557875023982758 0.4060306044801485 0.6847201135600811 1.0 1.0 15 Q9H490,Q32P28,Q9Y487,Q969N2,Q9Y619 5 |
| Emg neuropathic changes 0.4049471431849009 0.4044778462362655 0.6858613655898402 1.0 1.0 27 Q9NZJ7,Q16637,Q9NR77,O43819,Q8TB36,P22626 6 |
| Abnormal thrombosis 0.3922953140853289 0.4027569626087012 0.6871270245900951 1.0 1.0 24 P06748,P48735,O95235,O75874,O15460 5 |
| Avascular necrosis 0.3922386943334071 0.4025195033453907 0.6873017378225104 1.0 1.0 24 Q8IWS0,P06748,O75844,Q9NZ08 4 |
| Short chin 0.3338560818330076 0.402173798183902 0.6875561240027035 1.0 1.0 10 O75844,Q08J23 2 |
| Abnormal size of the clitoris 0.3671754132443979 0.4011895324727019 0.6882805868106674 1.0 1.0 18 P53701,P40855,Q9Y619 3 |
| Abnormal urine magnesium concentration 0.6597938144329908 0.3980559322870217 0.6905889569360169 1.0 1.0 2 P05023 1 |
| Muscle fiber atrophy 0.3867898103468718 0.3968570179890316 0.6914729015852403 1.0 1.0 23 P61978,P50402,P04075,P35637,P23786,P22626 6 |
| Poikilocytosis 0.3532165872390992 0.3949350648429192 0.6928908110973651 1.0 1.0 15 Q8NBF2,O75845,P41440,O60488 4 |
| Papule 0.369295712053874 0.3925785134117134 0.6946308118395079 1.0 1.0 19 Q8NFG4,Q9NZ08,O75844,Q15437 4 |
| Abnormality of the supraorbital ridges 0.3930826360383144 0.3890164152537757 0.6972640033479613 1.0 1.0 25 P40855,Q8IWS0,P98175,P16435,Q6PGP7,P49459,Q08J23 7 |
| Premature skin wrinkling 0.3514049237301084 0.3871716733447489 0.698629119358332 1.0 1.0 15 Q9Y487,O75844 2 |
| Abnormal choroid plexus morphology 0.4574624973298274 0.3843803028277605 0.7006965973738049 1.0 1.0 5 Q8IYI6 1 |
| Upper airway obstruction 0.6107594774284172 0.3819691699062354 0.7024842327548342 1.0 1.0 4 O75844 1 |
| Abnormal corpus striatum morphology 0.3581891777478621 0.3806569607453553 0.7034578089950727 1.0 1.0 17 O75792,O43819 2 |
| Thickened nuchal skin fold 0.3414990929535408 0.3805412787525351 0.7035436610726531 1.0 1.0 13 P40855 1 |
| Abdominal obesity 0.3160653233201717 0.3797954861262504 0.7040972332850834 1.0 1.0 7 O00170,P54132,O75312 3 |
| Multiple joint contractures 0.3702761138181857 0.3793563133901107 0.7044232871249587 1.0 1.0 20 O75792,O75844,Q99567,P41440 4 |
| Calcification of the aorta 0.4560130161639669 0.3793124278686657 0.7044558719217326 1.0 1.0 5 O75792 1 |
| Hypolipidemia 0.6500277639389004 0.379239544396371 0.7045099887613713 1.0 1.0 3 P49585 1 |
| Hypotriglyceridemia 0.6500277639389004 0.379239544396371 0.7045099887613713 1.0 1.0 3 P49585 1 |
| Excessive wrinkled skin 0.3200513537995857 0.3787233700918945 0.7048932970793811 1.0 1.0 8 Q9Y487 1 |
| Cystic liver disease 0.6095055891948571 0.3783387322224505 0.7051789758661702 1.0 1.0 4 Q9UGP8 1 |
| Abnormality of the tarsal bones 0.3985299732435403 0.378025638442892 0.7054115480214269 1.0 1.0 27 Q14739,Q9UHX1,P98175,P16435,P40939,O75844,Q99567 7 |
| Cerebral hypomyelination 0.3574864084877612 0.3776948345349071 0.7056573055125119 1.0 1.0 17 Q13144,Q9NW08,Q9NR50 3 |
| Short femur 0.3095914466405767 0.3699913977882718 0.7113888998881506 1.0 1.0 6 Q9UHX1 1 |
| Incomplete penetrance 0.4038095871449439 0.3667398930669461 0.7138130464340864 1.0 1.0 29 P03886,Q92733,O14979,Q8NFG4,Q9NTZ6,Q14671,Q9UJV9 7 |
| Abnormal astrocyte morphology 0.3464202006003229 0.3660552645635733 0.7143238378903705 1.0 1.0 15 P48735,O75874 2 |
| Thyroid carcinoma 0.3460122220098517 0.3643432401836355 0.7156017145141558 1.0 1.0 15 Q96GM5,O14497,Q8NFG4,P10644,Q15437 5 |
| Abnormality of the nasal skeleton 0.4514889271398858 0.3636523315176538 0.7161176434704994 1.0 1.0 5 P10644,P35222 2 |
| Eeg with focal sharp waves 0.6040655339805932 0.3627514881901168 0.7167905336659666 1.0 1.0 4 Q9ULP9,P08559,Q9Y617 3 |
| Hamartoma 0.3617877917420663 0.3612123741276479 0.7179406925226914 1.0 1.0 19 P48735,O75874 2 |
| Absent facial hair 0.3240791983707288 0.3598011491319794 0.7189958437826631 1.0 1.0 10 O75844 1 |
| Lower limb amyotrophy 0.3612858486625834 0.3591441602240845 0.719487247228499 1.0 1.0 19 Q92734,O14908,Q9NR77,P06753 4 |
| Adducted thumb 0.3766457184701373 0.3550543138066901 0.7225489019403961 1.0 1.0 23 Q15056,Q86XL3,Q9UL01,Q8NCH0 4 |
| Abnormal 2nd finger morphology 0.3060430571890427 0.3545857762997152 0.7228999335106714 1.0 1.0 6 P27635 1 |
| Akinesia 0.3228309638971882 0.3544982348549348 0.7229655266407513 1.0 1.0 10 Q6Y7W6,P51114 2 |
| Recurrent hand flapping 0.6011136541339488 0.3544067554012529 0.7230340726205853 1.0 1.0 4 Q05086 1 |
| Abnormal circulating fatty acid anion concentration 0.3352130952087192 0.3539220220680869 0.7233973226352683 1.0 1.0 13 O43772,P40939 2 |
| Abducens palsy 0.6001797567585494 0.3517835563961797 0.7250005914129531 1.0 1.0 4 O00170,Q9NZJ7 2 |
| Abnormal iris pigmentation 0.3675796082786057 0.3513624321904353 0.725316462655865 1.0 1.0 21 P40855,Q15056 2 |
| Unilateral renal agenesis 0.3674496011637738 0.3508344380828276 0.725712559487385 1.0 1.0 21 Q86XL3,P30153,Q7LGA3,P35606,Q9UHX1,P16435 6 |
| Choroid plexus cyst 0.6395734466242022 0.3491554228248775 0.7269726301290265 1.0 1.0 3 Q8IYI6 1 |
| Enlarged thorax 0.3504890928387703 0.3485960878978167 0.7273925651289677 1.0 1.0 17 O75844,Q32P28 2 |
| Neoplasm of the larynx 0.6386692449795747 0.3466067775483293 0.7288867534719194 1.0 1.0 3 P52701 1 |
| Loss of speech 0.3622380697240143 0.3462763676595101 0.7291350271635106 1.0 1.0 20 Q9NZJ7,P50897,O75792,Q5JTZ9,O94905 5 |
| Intestinal polyp 0.3621169782550795 0.3457852683274955 0.729504097185627 1.0 1.0 20 Q15437,Q8NFG4,P54277,O43683,P52701 5 |
| Reduced forced vital capacity 0.638155899302409 0.3451636755953786 0.7299713252198892 1.0 1.0 3 P06753,Q9BQT8 2 |
| Poor wound healing 0.3036319580783847 0.3442387398543833 0.730666750394501 1.0 1.0 6 O15269 1 |
| Abnormal circulating bilirubin concentration 0.3936922692614564 0.3424206913049612 0.7320343192143104 1.0 1.0 28 P41440,P55263,P40855,Q14739,O75845,P23786,P43034,P49459 8 |
| Soft skin 0.3153048711470018 0.3403923891627611 0.7335610494428388 1.0 1.0 9 Q13126 1 |
| Broad face 0.636368981038806 0.340162193646873 0.7337343874253588 1.0 1.0 3 P49459 1 |
| Antiphospholipid antibody positivity 0.6400848999393584 0.3380751653762181 0.735306544990747 1.0 1.0 2 P49327 1 |
| Arrhinencephaly 0.3351672941550059 0.3365397149653742 0.7364639080249085 1.0 1.0 14 P53992,O75792,Q9Y3Z3,Q15427 4 |
| Abnormal motor evoked potentials 0.6394784718010927 0.3363068592423837 0.7366394779467198 1.0 1.0 2 P07196 1 |
| Neonatal hyperbilirubinemia 0.5944359708223756 0.3358310738315719 0.7369982561569657 1.0 1.0 4 P43034,P49459 2 |
| Gingivitis 0.6342205052323334 0.334193971468355 0.738233192815918 1.0 1.0 3 Q01968 1 |
| Wide anterior fontanel 0.3713112840798001 0.3336552263694677 0.7386397393355635 1.0 1.0 23 Q15436,Q32P28,P40855,Q9Y487,P16435,P20674,A1X283,Q6NUK1,O75718,Q08J23 10 |
| Elevated hemoglobin a1c 0.5931006750344152 0.3321677182381363 0.7397626182717854 1.0 1.0 4 Q969M3 1 |
| Reduced forced expiratory volume in one second 0.6379624014554287 0.3319069079282315 0.7399595540383079 1.0 1.0 2 Q96J02 1 |
| Abnormal blood monovalent inorganic cation concentration 0.3545086681473935 0.3315898622222425 0.7401989756574436 1.0 1.0 19 P04075,Q9UNF1,Q13423,P35658 4 |
| Fetal ultrasound soft marker 0.3462994459582716 0.3315301181418749 0.7402440950771612 1.0 1.0 17 P40855,P16435,P61978 3 |
| Recurrent staphylococcal infections 0.637659187386296 0.3310304973529027 0.740621449441931 1.0 1.0 2 P40763 1 |
| Recurrent staphylococcus aureus infections 0.637659187386296 0.3310304973529027 0.740621449441931 1.0 1.0 2 P40763 1 |
| Panniculitis 0.3086393005031057 0.3299785863554028 0.7414161423546921 1.0 1.0 8 O75792,P28070 2 |
| Decreased circulating total igm 0.3125579237053839 0.3289191785984406 0.7422167777316999 1.0 1.0 9 P54132,Q969N2,P50851 3 |
| Micromelia 0.3781938101121387 0.3289009672554582 0.7422305431891385 1.0 1.0 25 P48735,O43175,Q14739,O75874,Q9UHX1,P10644,O75718,Q15392 8 |
| Decreased circulating cortisol level 0.3041399155952368 0.3286450460865806 0.7424239957391752 1.0 1.0 7 Q13423 1 |
| Radial deviation of the hand or of fingers of the hand 0.3282072144773302 0.3249900564237734 0.7451885973984811 1.0 1.0 13 Q9H0F7,Q96ST3,Q02750,O43175,P38919,Q15427 6 |
| Tongue fasciculations 0.3240105922306034 0.3247485293602369 0.7453714024234619 1.0 1.0 12 Q16637,O95831 2 |
| Abnormal aldolase level 0.5898265688099805 0.3232586941362559 0.7464993333549796 1.0 1.0 4 P04075 1 |
| Fibular aplasia 0.6299502843561211 0.3224801751511543 0.7470889541833765 1.0 1.0 3 Q9Y5S9 1 |
| Abnormality of the nasal bone 0.5893547504747634 0.3219835173306286 0.7474651813982935 1.0 1.0 4 P10644,P35222 2 |
| Low levels of vitamin d 0.3108477666362869 0.3218425409877039 0.7475719844759445 1.0 1.0 9 Q9NSD9,Q01968,P61011,Q9Y3A5,Q7Z2Z2,Q5F1R6,Q10471,P62913 8 |
| Hyperesthesia 0.6290876867760522 0.3201381694105741 0.7488635920203999 1.0 1.0 3 Q9NZJ7 1 |
| Anencephaly 0.3470057103419578 0.3179507340940163 0.7505223076012912 1.0 1.0 18 Q9Y3Z3,O43175,O75792,Q15427,P53992 5 |
| Aphthous ulcer 0.2973770205957907 0.3178725276483305 0.7505816323647088 1.0 1.0 6 O75083,Q9NZ08 2 |
| Hypokinesia 0.3263311410350853 0.3173808720748554 0.750954619412826 1.0 1.0 13 Q9Y3D3,Q9NQX3,O95831,P06753 4 |
| Bronchomalacia 0.6274960582055129 0.3158383620662116 0.7521251986475386 1.0 1.0 3 P16435 1 |
| Hypointensity of cerebral white matter on mri 0.30509158504331 0.3152791541991902 0.752549711053361 1.0 1.0 8 P49459,Q9NZJ7 2 |
| Erythema 0.3499775986504502 0.3135670490066602 0.7538498892298953 1.0 1.0 19 P53701,P51648,Q06136 3 |
| Difficulty climbing stairs 0.3248357710622518 0.3113590477808602 0.7555276827836219 1.0 1.0 13 P40939,Q92734 2 |
| Iris hypopigmentation 0.3040676839238969 0.3110790069916014 0.7557405599405678 1.0 1.0 8 Q05086,Q86YV9 2 |
| Abnormal neuron morphology 0.3853061395244958 0.3098176174555358 0.7566996535761319 1.0 1.0 28 Q9UHD9,Q9NW08,P31483,Q92734,P35637,Q16637,O94905,O95292,P22626,Q99700 10 |
| Writer s cramp 0.6245071276918402 0.3078398488147909 0.7582041980343543 1.0 1.0 3 P29992,Q9H269 2 |
| Decreased facial expression 0.384432478296196 0.3064813666786424 0.7592381649285442 1.0 1.0 28 O14908,Q6Y7W6,P38606,Q05086,Q9Y5P4,Q99700 6 |
| Decreased palmar creases 0.6234672912409549 0.3050806643935226 0.7603047172338282 1.0 1.0 3 Q9UL01 1 |
| Edema of the dorsum of hands 0.6282595512431789 0.3044622077707627 0.7607757807200339 1.0 1.0 2 Q9Y5S9 1 |
| Contractures of the large joints 0.6282595512431789 0.3044622077707627 0.7607757807200339 1.0 1.0 2 O75431 1 |
| Edema of the dorsum of feet 0.6282595512431789 0.3044622077707627 0.7607757807200339 1.0 1.0 2 Q9Y5S9 1 |
| Adrenal overactivity 0.2938007393669637 0.3031196351779711 0.7617986909547094 1.0 1.0 6 Q01968 1 |
| Hyperkalemia 0.5821987897604923 0.3029153868563044 0.7619543449175388 1.0 1.0 4 Q13423 1 |
| Elevated lactate pyruvate ratio 0.5812402485506747 0.3004004946107833 0.7638716864520212 1.0 1.0 4 P53597,P09001 2 |
| Autosomal dominant germline de novo mutation 0.6267434808975149 0.300287458361099 0.7639578988465785 1.0 1.0 2 P24928 1 |
| Proximal muscle weakness in upper limbs 0.3343103503810548 0.3001001500561281 0.7641007647475608 1.0 1.0 16 P50402 1 |
| Dyscalculia 0.3095107745393324 0.2995489923850716 0.7645211965026926 1.0 1.0 10 P35637 1 |
| Chorioretinal atrophy 0.4320810709278416 0.2993515109510524 0.7646718553504226 1.0 1.0 5 P40939 1 |
| Ambiguous genitalia 0.37421267597242 0.2979952158161509 0.7657068150677371 1.0 1.0 26 Q15392,O43683 2 |
| Progressive visual field defects 0.6255306246209837 0.2969700650720223 0.7664893633279926 1.0 1.0 2 P35222 1 |
| Redundant skin 0.3695949652431304 0.2956664712959467 0.7674848049672924 1.0 1.0 25 Q9UL01,Q02750,Q9Y487,O96000,P38606,Q8NCH0,Q15056,Q6NUK1,A1X283,Q9Y3D3,P38435 11 |
| Decreased muscle mass 0.3449722746625249 0.2940486188820297 0.7687207521938613 1.0 1.0 19 Q9Y487,P04075,Q9UL01,Q8NCH0 4 |
| Sirenomelia 0.6243177683444524 0.2936726755285546 0.769008035850516 1.0 1.0 2 P21281 1 |
| Anterior plagiocephaly 0.6243177683444524 0.2936726755285546 0.769008035850516 1.0 1.0 2 P21281 1 |
| Macrodontia of permanent maxillary central incisor 0.6243177683444524 0.2936726755285546 0.769008035850516 1.0 1.0 2 P21281 1 |
| Toenail dysplasia 0.6243177683444524 0.2936726755285546 0.769008035850516 1.0 1.0 2 P21281 1 |
| Osteosarcoma 0.3646999210715875 0.2923120387515168 0.7700480549987478 1.0 1.0 24 Q13126,P18077 2 |
| Abnormal b cell subset distribution 0.6182249788361014 0.2913569373116501 0.770778345559207 1.0 1.0 3 P17812 1 |
| Abnormality of salivation 0.4466339139753743 0.2911610070823826 0.770928183059304 1.0 1.0 45 Q15233,P55795,P09417,P35637,Q05086,Q9NR77,Q8N0X7,Q9Y5P4,Q99700 9 |
| Axonal loss 0.2950031987453041 0.2911543198841386 0.770933297240173 1.0 1.0 7 P41440,Q8N9N2 2 |
| Constriction of peripheral visual field 0.3562690092241229 0.2908447913821906 0.7711700268140584 1.0 1.0 22 P40855,Q9H061,P50213 3 |
| Abnormality of fundus pigmentation 0.5775603475861164 0.2908333508911249 0.7711787769905887 1.0 1.0 4 Q9Y619 1 |
| Lower limb asymmetry 0.2947475848168024 0.2901281740170133 0.7717181825667248 1.0 1.0 7 P07437 1 |
| Neonatal insulin dependent diabetes mellitus 0.5771183261965208 0.289693593921807 0.772050657592338 1.0 1.0 4 O00330 1 |
| Abnormality of earlobe 0.3795405595337079 0.2880192663344682 0.7733319908789342 1.0 1.0 28 P53701,Q8IWS0,Q7LGA3,P98175,P16435,P53992,Q8TC12,Q15392 8 |
| Neonatal hypoglycemia 0.3147629531184254 0.2877110263733133 0.773567948931716 1.0 1.0 12 O43772 1 |
| Bone pain 0.355409161591683 0.287576203968129 0.7736711622210342 1.0 1.0 22 P48735,P06748,O75874 3 |
| Abnormality of vitamin d metabolism 0.3063829787234055 0.2871062441876552 0.7740309711965194 1.0 1.0 10 Q9NSD9,Q01968,P46783,P61011,Q9Y3A5,Q7Z2Z2,Q5F1R6,Q10471,P62913 9 |
| Chronic neutropenia 0.2936330484089495 0.2856688646863178 0.7751317537263942 1.0 1.0 7 P50851 1 |
| Paronychia 0.615862659308276 0.2852755635486999 0.7754330328092804 1.0 1.0 3 P54132 1 |
| Abnormality of the periungual region 0.615862659308276 0.2852755635486999 0.7754330328092804 1.0 1.0 3 P54132 1 |
| Abnormal csf carboxylic acid concentration 0.2924651226970564 0.2810221987160773 0.7786933735270165 1.0 1.0 7 P08559 1 |
| Gastrointestinal hemorrhage 0.3971953498684481 0.280259166622999 0.7792786762102875 1.0 1.0 33 Q9UGP8,Q9UER7,Q14739,P31040,P53992,P49257,P22681,Q9NZ08,Q9UHX1,P54277,P35222,P14314,P52701 13 |
| Open bite 0.329122060310061 0.2799866851029141 0.7794877202640507 1.0 1.0 16 Q01968,P61978,Q15056,P21281,Q13428 5 |
| Encephalocele 0.3207960803390155 0.2793254121277371 0.7799951060358761 1.0 1.0 14 P49585,Q8WXW3,Q13428 3 |
| Dental crowding 0.3809287940862781 0.27844624995908 0.7806698203326012 1.0 1.0 29 Q15233,Q01968,Q9UL01,P27635,Q01105,Q8NFG4,O75844,Q92643,P06753 9 |
| Ovarian neoplasm 0.3365618495800837 0.2773864329008118 0.7814833980392011 1.0 1.0 18 O75874 1 |
| Osteomalacia 0.4244386729908498 0.2754053230980516 0.7830048549195872 1.0 1.0 5 Q01968,O43175 2 |
| Motor polyneuropathy 0.3113345947389279 0.2743767429880697 0.7837951138586754 1.0 1.0 12 Q92734,O43819 2 |
| Abnormal circulating serine concentration 0.6081286017591874 0.2658207857793213 0.7903772342301196 1.0 1.0 3 Q9UJS0,O43175 2 |
| Cardiac diverticulum 0.4213034862813413 0.2658203761690317 0.7903775497067322 1.0 1.0 5 P43246,P54277,P52701 3 |
| Aplasia of the phalanges of the hand 0.6130988477865384 0.2641336487722536 0.7916769363347791 1.0 1.0 2 P02545 1 |
| Laryngeal dystonia 0.6072186836518141 0.2635783145606278 0.7921048702420896 1.0 1.0 3 P04350,O75569 2 |
| Hypoplastic hippocampus 0.6072186836518076 0.2635783145606122 0.7921048702421016 1.0 1.0 3 Q9HA77,Q9UID3 2 |
| Neutropenia in presence of anti neutropil antibodies 0.2877918778367721 0.2627038630914848 0.7927788390284194 1.0 1.0 7 Q96J02,P40763,P49327,P42224 4 |
| Generalized limb muscle atrophy 0.2918607424281457 0.2625412655111227 0.7929041754703148 1.0 1.0 8 O43819 1 |
| Generalized tonic seizure 0.3441034995373652 0.2603567714441996 0.794588584740592 1.0 1.0 21 Q7L7X3,P27635,Q01105,P67870,P43034,Q08209 6 |
| Gastrointestinal carcinoma 0.3834652683935211 0.2589914836751821 0.7956418114145194 1.0 1.0 31 P63167,P18077,O43683 3 |
| Irregular menstruation 0.2826529461528052 0.2587409823633971 0.7958350966377981 1.0 1.0 6 P10644,P02545 2 |
| Papillary thyroid carcinoma 0.2902738682563479 0.2564490933171682 0.797604083926883 1.0 1.0 8 O14497,Q15437 2 |
| Knee dislocation 0.609460278956945 0.2549319841790435 0.798775632421105 1.0 1.0 2 O75369 1 |
| Purpura 0.3371597154322306 0.2496466699320632 0.8028606036408985 1.0 1.0 20 P06748,Q8NCH0,P53992,P40763,P38435 5 |
| Abnormal blood transition element cation concentration 0.3128792339798991 0.2494112104713078 0.8030427143978502 1.0 1.0 14 Q6PGP7,O43819 2 |
| Abnormal insulin level 0.3649515422716923 0.2492219011512262 0.8031891391361792 1.0 1.0 27 P53985,P40939,O75844 3 |
| Head banging 0.6070345664038825 0.2489020922423226 0.8034365168469497 1.0 1.0 2 P28482 1 |
| Hypoglycemic coma 0.2918798686147306 0.2470225558903144 0.8048907678263557 1.0 1.0 9 P00367,Q13423,P40939,P31751,P38117 5 |
| Abnormal gallbladder morphology 0.3797629840489046 0.2458473298145933 0.8058004172856323 1.0 1.0 31 O43681,Q9NZJ7,P40855,O75845,P04075,Q96A33,Q15056,P53992,Q9UN37,Q15437 10 |
| Abnormality of neutrophil physiology 0.4139605462822611 0.2439330844621822 0.8072826452989401 1.0 1.0 5 Q7Z2Z2,Q5F1R6,P06744,Q9Y3A5 4 |
| Hypoamylasemia 0.4139605462822608 0.243933084462181 0.807282645298941 1.0 1.0 5 Q7Z2Z2,Q5F1R6,A5YKK6,Q9Y3A5 4 |
| Transient neutropenia 0.413960546282258 0.2439330844621727 0.8072826452989474 1.0 1.0 5 Q7Z2Z2,Q5F1R6,Q9H078,Q9Y3A5 4 |
| Abnormality of vitamin a metabolism 0.4139605462822569 0.2439330844621695 0.8072826452989499 1.0 1.0 5 Q9NSD9,Q5F1R6,Q7Z2Z2,Q9Y3A5 4 |
| Abnormality of vitamin k metabolism 0.4139605462822545 0.2439330844621627 0.8072826452989552 1.0 1.0 5 Q7Z2Z2,Q9UDY2,Q5F1R6,Q9Y3A5 4 |
| Aplasia hypoplasia of the uterus 0.3153899290497579 0.2437420526582883 0.8074306020772584 1.0 1.0 15 P53701,Q16740,P30153 3 |
| Olivopontocerebellar hypoplasia 0.5977903618636702 0.2409279150030436 0.8096109862560079 1.0 1.0 3 Q99700 1 |
| Disproportionate short stature 0.3542704932416493 0.239442908871667 0.8107621610096001 1.0 1.0 25 Q03164,Q32P28,Q14739,P10644,Q7LGA3,Q9UHX1,P49585,O75718,Q15392 9 |
| Increased bone mineral density 0.3496472648873768 0.2371400439358777 0.8125481476408394 1.0 1.0 24 Q13126,Q15056,Q15392 3 |
| Urogenital fistula 0.2890284274570484 0.2363983423070614 0.8131235823925926 1.0 1.0 9 Q13428,P16435,Q01968 3 |
| Absent septum pellucidum 0.3805761184606171 0.2350227737490514 0.8141910573232662 1.0 1.0 32 P53701,Q96C86,Q96F86,Q96N66,Q15392,Q08J23 6 |
| Muscle fiber inclusion bodies 0.2802425655424304 0.2340755736436725 0.8149263086118201 1.0 1.0 7 P06753,P07196 2 |
| Morning myoclonic jerks 0.6006670709520936 0.2334752652314325 0.8153923743547142 1.0 1.0 2 P04080 1 |
| Abnormality of the musculature of the lower limbs 0.3556872463130029 0.2305158880928865 0.8176909189737429 1.0 1.0 26 Q9NR77,P50402 2 |
| Psychosis 0.3785106700924137 0.2279146767115216 0.8197125726130321 1.0 1.0 32 Q6DKK2,Q13286,Q5JRX3 3 |
| Localized osteoporosis 0.5970285021224999 0.2249232503954877 0.8220389814863098 1.0 1.0 2 P82650 1 |
| Progressive muscle weakness 0.3177521015928645 0.2232821828340255 0.823315893289648 1.0 1.0 17 P40855 1 |
| Muscle fibrillation 0.3176179101941119 0.2228095205424866 0.823683757940769 1.0 1.0 17 Q16637,O95831,Q92734 3 |
| Abnormal salivary gland morphology 0.4054446854816674 0.2195674801478526 0.8262080204323292 1.0 1.0 5 P43246,Q13428,P52701 3 |
| Abnormal vena cava morphology 0.2841430120058757 0.2186023322912803 0.8269598358369117 1.0 1.0 9 P98175,P49459 2 |
| Paroxysmal dystonia 0.593693147362039 0.2172534311358926 0.8280108468771643 1.0 1.0 2 Q9ULP9 1 |
| Melanocytic nevus 0.2998461928190417 0.216900657782045 0.8282857649714757 1.0 1.0 13 P10644,Q96AY3,Q15437 3 |
| Abnormal biliary tract morphology 0.3431315381199779 0.2145195430955708 0.8301419284880664 1.0 1.0 24 O43681,Q9NZJ7,Q14739,P09601,Q9UJW0,Q10713 6 |
| Progressive gait ataxia 0.2945938068107819 0.2126097675712189 0.8316313522079248 1.0 1.0 12 Q9NZJ7,Q05086 2 |
| Elliptocytosis 0.5443389680944579 0.2110742375216905 0.8328293428244808 1.0 1.0 4 Q8NBF2,O60488 2 |
| Ankle clonus 0.3021874924800302 0.2109876434771153 0.8328969134031821 1.0 1.0 14 Q8N0X7,O94905,Q9NZJ7 3 |
| Partial agenesis of the corpus callosum 0.2970390946557207 0.207076718629787 0.8359499438651208 1.0 1.0 13 P08559,Q15392,O00330 3 |
| Global brain atrophy 0.3248039325302607 0.2061926516319995 0.8366404276702541 1.0 1.0 20 Q9NZJ7,P35637,O43819,Q9UHX1,Q969N2 5 |
| Abnormal dental root morphology 0.2765730467266914 0.2060953386834551 0.8367164398078324 1.0 1.0 8 P06748 1 |
| Biparietal narrowing 0.2883063180776463 0.2047310395706354 0.8377822679659612 1.0 1.0 11 Q9UBM7,O75845,Q10713,Q8WXW3 4 |
| Atresia of the external auditory canal 0.3123792346131848 0.2046442493948282 0.8378500809420564 1.0 1.0 17 P61254,Q9Y619,Q15427,Q13428 4 |
| Abnormality of the tonsils 0.2837211565585393 0.2028164970662524 0.8392784631170411 1.0 1.0 10 P54132,P00813 2 |
| Fine hair 0.2997495044494122 0.2025603883990444 0.8394786535699588 1.0 1.0 14 P04080,Q01968,Q02750,P18074,P22681,Q8WXI9,Q6PGP7,Q08J23 8 |
| Abnormality of hair pigmentation 0.3467305407415676 0.2000837105626739 0.841415112862026 1.0 1.0 26 Q13126,Q05086,Q6PGP7 3 |
| Mitochondrial inheritance 0.5385882579663508 0.1985340367211175 0.8426272572610973 1.0 1.0 4 P03886 1 |
| Sensory axonal neuropathy 0.3017162238508493 0.1956104270936108 0.8449150983098315 1.0 1.0 15 Q15067,O95831,P22626 3 |
| Intrinsic hand muscle atrophy 0.5369416837204849 0.1950148474155514 0.8453813242189239 1.0 1.0 4 Q9NR77 1 |
| Abnormal cerebrospinal fluid metabolite concentration 0.2767879751554769 0.1928143626305676 0.8471043548050643 1.0 1.0 9 P08559,O00330 2 |
| Neoplasm of the skeletal system 0.4025201674294845 0.1925504020993043 0.8473110912943103 1.0 1.0 41 P48735,Q13126,O75874,P61254,O75792,P18077 6 |
| Decreased circulating acth level 0.2641340775659063 0.1909424376226415 0.8485706913792836 1.0 1.0 6 P10644,P35240 2 |
| Abnormal eyelid physiology 0.2758051127030267 0.1894624223688972 0.8497304042758302 1.0 1.0 9 Q13428,Q9NQZ5 2 |
| Episodic tachypnea 0.2712884435657197 0.1878041556363718 0.8510301780089078 1.0 1.0 8 P22695,Q8WXW3 2 |
| Abnormality of blood volume homeostasis 0.5732318521111166 0.1870868096889133 0.8515925699097828 1.0 1.0 3 O00330 1 |
| Eeg with abnormally slow frequencies 0.3110366905331163 0.1867693556282779 0.8518414747625931 1.0 1.0 18 P38606,Q08209,Q05086 3 |
| Foot dorsiflexor weakness 0.369687966512959 0.1858726172039138 0.8525446562838297 1.0 1.0 33 O14908,Q14739,Q9NR77,P07196,O43819,Q96BR5,O15269,Q8TB36,P06753 9 |
| Spinal rigidity 0.2907311301352234 0.185628460491259 0.8527361332073835 1.0 1.0 13 O94905,P50402 2 |
| Ovarian cyst 0.3027183432580814 0.1856137299168342 0.8527476857583849 1.0 1.0 16 Q15056 1 |
| Abnormal muscle glycogen content 0.531728313015876 0.1840839109890678 0.8539476279602205 1.0 1.0 4 P13807,P08237 2 |
| Poikiloderma 0.2620540273827109 0.1838276601280265 0.8541486562553218 1.0 1.0 6 P54132,P18074 2 |
| Autoimmune thrombocytopenia 0.2738917831486825 0.1830022635117353 0.8547962425858235 1.0 1.0 9 P40763,P00813,P50851 3 |
| Abnormality of the clitoris 0.325685105738029 0.1828161532619114 0.8549422737417653 1.0 1.0 22 P53701,P40855 2 |
| Abnormal corneal epithelium morphology 0.3092803376018306 0.1810200976611989 0.8563518009610489 1.0 1.0 18 P51648,O75844,Q9NZ08 3 |
| Aplasia hypoplasia of the clavicles 0.2852349326530968 0.1806815499007078 0.856617541471868 1.0 1.0 12 O75844 1 |
| Paraparesis 0.3520227013256484 0.1791457444299709 0.8578232640921546 1.0 1.0 29 Q6DKK2,Q9Y4W6,P35637,O75792,Q8N0X7 5 |
| Prominent metopic ridge 0.2926986532966109 0.1789179433124474 0.8580021333975001 1.0 1.0 14 P61978,P30153,O75845,O00330,P40763 5 |
| Abnormal peristalsis 0.2686014192854831 0.1787570938521998 0.8581284366922026 1.0 1.0 8 Q9Y5Y0,P40763,Q9NSE4 3 |
| Cerebral inclusion bodies 0.2923138887202607 0.1776596023087213 0.8589903131420609 1.0 1.0 14 Q6Y7W6,P31483,P09651,P22626,Q99700 5 |
| Skin dimple 0.343613970549451 0.1772629920195906 0.8593018185017383 1.0 1.0 27 P53701,P61978,P27635,Q15056,P43034,P62258,Q08J23 7 |
| Small earlobe 0.2760715501435025 0.1768939538327198 0.8595916878723151 1.0 1.0 10 P53992,P98175 2 |
| Death in childhood 0.3236082487937137 0.1761401054671909 0.8601838738485494 1.0 1.0 22 P09001,O75792,P20674,Q6NUQ1,P53597,Q8TCJ2 6 |
| Inappropriate crying 0.2673448557718861 0.174586013708271 0.8614049392354366 1.0 1.0 8 Q9NZJ7 1 |
| Mitral valve prolapse 0.3231117226928602 0.1745572938262362 0.8614275078601099 1.0 1.0 22 P53701,P55795,Q9UL01,Q15056 4 |
| Protruding tongue 0.2832480706298937 0.1741585099757419 0.8617408914114444 1.0 1.0 12 Q9NRZ9,Q05086,P67870 3 |
| Neoplasm of the thyroid gland 0.326900001442465 0.1740682678692654 0.8618118110256578 1.0 1.0 23 P49327,Q96GM5,P02545,O14497,P10644,Q8NFG4,P54277,P52701,P43246,P42892,Q15437 11 |
| Progressive external ophthalmoplegia 0.2818959679386115 0.1697718114702895 0.865189596266752 1.0 1.0 12 O14908 1 |
| Broad based gait 0.332841801290805 0.168028732348053 0.8665606752833996 1.0 1.0 25 Q03164,Q9Y5Y0,Q05086,P98175,P61981,Q9Y5P4 6 |
| Upper limb muscle weakness 0.3406423957160486 0.1679339465979015 0.8666352438355129 1.0 1.0 27 Q8N0X7,O14908,P50402 3 |
| Anhidrosis 0.3854324734446196 0.1668408509119439 0.8674952747683473 1.0 1.0 5 P04066,O15270,Q9Y276,P20700 4 |
| Vertebral wedging 0.5625495816434318 0.1660566929578604 0.8681123349126145 1.0 1.0 3 Q96AY3 1 |
| Pendular nystagmus 0.256682780994664 0.1659498144289599 0.8681964447096122 1.0 1.0 6 O15347 1 |
| Synostosis involving bones of the hand 0.2766963732860381 0.165897767176623 0.8682374046817221 1.0 1.0 11 Q15233 1 |
| Aplasia hypoplasia involving the vertebral column 0.2915231409558804 0.1623435713634693 0.8710353047576131 1.0 1.0 15 Q6NUQ1,O95831 2 |
| Areflexia of lower limbs 0.3151309867585202 0.1618697759917471 0.8714084041585834 1.0 1.0 21 Q16637,Q9NR77 2 |
| Generalized hyperpigmentation 0.2828320192418249 0.1600372686838941 0.872851716393745 1.0 1.0 13 Q96IJ6,P51648,Q02750,Q13423,P21281 5 |
| First degree atrioventricular block 0.5581622350249547 0.1578450343121645 0.8745789111981794 1.0 1.0 3 Q99959 1 |
| Narrow palpebral fissure 0.2898317705449734 0.1570502308304341 0.8752052607686289 1.0 1.0 15 Q03164,P27635,Q8IWS0 3 |
| Abnormality of thalamus morphology 0.2935787477089285 0.1563617400024112 0.8757478932395069 1.0 1.0 16 Q96KP1 1 |
| Nonprogressive 0.252276867030971 0.1518291278151176 0.8793217077845727 1.0 1.0 6 Q9BUF5,Q9Y399,Q06210,Q10713,Q9NQZ5 5 |
| Abnormal anatomic location of the heart 0.2760390570258189 0.1512676545991685 0.8797645835312808 1.0 1.0 12 O75844,Q8WXW3 2 |
| Dysplastic corpus callosum 0.2758684706514632 0.1507409782708099 0.8801800465750902 1.0 1.0 12 Q15233,Q96ST3,P49902,P20700,Q16531 5 |
| Antineutrophil antibody positivity 0.5535590908860453 0.1494966592888952 0.8811617452483052 1.0 1.0 3 Q96J02 1 |
| Pulmonary hypoplasia 0.3344168979323172 0.1489685281816104 0.8815784666989821 1.0 1.0 27 Q14739,P98175,O75844,Q5JTZ9,Q99567,Q8N9N2 6 |
| Reticulocytosis 0.2751486624889389 0.1485263382321706 0.8819274015667822 1.0 1.0 12 Q15437 1 |
| Mixed hypo and hyperpigmentation of the skin 0.3775417298937888 0.1478748560468195 0.8824415319893657 1.0 1.0 5 P55265,Q9H488,P49459,P02545 4 |
| Abnormal delivery 0.3180321190397043 0.1467574969839098 0.8833234338395679 1.0 1.0 23 Q9Y487,Q9Y619,P06753,O75844 4 |
| Abnormal tongue physiology 0.3021386360001232 0.1462801387293349 0.8837002441942359 1.0 1.0 19 Q16637,O95831,O14908 3 |
| Abnormal urinary electrolyte concentration 0.3058863866359397 0.1456997183695665 0.8841584437054424 1.0 1.0 20 Q969N2,Q9UNF1,Q15056,Q13423 4 |
| Motor axonal neuropathy 0.2899526134025349 0.1452801637440194 0.8844896755980489 1.0 1.0 16 P23381,O95831,O15269,P09651,P22626 5 |
| Brisk reflexes 0.3093395065380286 0.1442599512872224 0.8852952016910884 1.0 1.0 21 Q9BSJ2,P35637,Q5JRX3,P20674,Q99497,Q10713,Q9Y3C6 7 |
| Ectrodactyly 0.293375169987754 0.1436798515479664 0.8857532822311689 1.0 1.0 17 Q9NR77 1 |
| Urticaria 0.2694964301561792 0.1434145599634496 0.8859627846498586 1.0 1.0 11 P51648,Q969N2,Q15427,P22681 4 |
| Limb ataxia 0.3316436649775218 0.1407771349078511 0.8880460068545386 1.0 1.0 27 P41440,Q9Y4W6,P31040,Q9NR77,P18887,P07196,Q8IV08,Q10713,Q99700 9 |
| Bilateral ptosis 0.2921777940394656 0.1401096196260786 0.8885733802047306 1.0 1.0 17 Q5T8D3,O00330,O43819,P21281,Q9Y5P4,P40763 6 |
| Abnormality of upper limb metaphysis 0.5548817465130396 0.140085319874413 0.8885925792610461 1.0 1.0 2 P26373 1 |
| Breast carcinoma 0.3117589499185142 0.1397967343062273 0.8888205936045828 1.0 1.0 22 P48735,O75874 2 |
| Abnormality of the thenar eminence 0.2993190730750475 0.1379017548094399 0.8903180635232413 1.0 1.0 19 P18077 1 |
| Cardiac conduction abnormality 0.3345375682579982 0.1378720459501237 0.8903415434891604 1.0 1.0 28 O43772,Q99959,Q9H490,P50402,P03886,P38606,O43819,P23786 8 |
| Pulmonary fibrosis 0.3019338527693753 0.1340433158289252 0.8933683224035807 1.0 1.0 20 Q8IZA0,Q9UJW0 2 |
| Abnormal nasolacrimal system morphology 0.2819725748971101 0.1333281675055946 0.8939338520130906 1.0 1.0 15 P53701 1 |
| Abnormal thoracic spine morphology 0.3211749145898089 0.1330342188163235 0.8941663183098933 1.0 1.0 25 P51648,O75845,O95831,O75844,P06753 5 |
| Sarcoma 0.4495905081087544 0.1328166638602827 0.8943383752637377 1.0 1.0 59 P48735,Q13126,O75874,P61254,P63167,P18077,Q15392,O43683 8 |
| Postural instability 0.3043739847391049 0.1297503337500352 0.8967639585515383 1.0 1.0 21 Q9NR77,P41440,Q99700 3 |
| Amblyopia 0.2919753559786858 0.1280152358815784 0.898136915757501 1.0 1.0 18 P53701,P51797,Q9UHX1 3 |
| Broad distal phalanx of finger 0.2440583792649602 0.1268396120973024 0.8990673430011773 1.0 1.0 6 Q7LGA3 1 |
| Hemivertebrae 0.2756377667493275 0.1264226773174289 0.8993973522639942 1.0 1.0 14 Q9UHX1,P16435,Q9Y619 3 |
| Vegetative state 0.367661948448974 0.1256305077062276 0.9000244126184227 1.0 1.0 5 Q9NZJ7 1 |
| Abnormality of exocrine pancreas physiology 0.302600353433821 0.1247016027947369 0.900759788461085 1.0 1.0 21 O00330,Q9UHX1,Q9UJW0,P09601,P40763 5 |
| Distal lower limb muscle weakness 0.290312193190104 0.1232802870456925 0.901885150407095 1.0 1.0 18 O14908,Q9NR77,P06753 3 |
| Recurrent fractures 0.3409051935446611 0.1229347394879504 0.9021587761293216 1.0 1.0 31 P06748,P48735,Q32P28,Q96AY3,Q01968,Q13126,O75874,P16435,O75718 9 |
| Abnormality of lower limb epiphysis morphology 0.289970339957153 0.1223150512536263 0.902649512324552 1.0 1.0 18 Q6NUQ1,O95831 2 |
| Exodeviation 0.3290573842224535 0.1222927235412525 0.9026671945184928 1.0 1.0 28 Q15233,P55795,Q05086,O43819,Q9UHX1,Q8IYI6,P40939 7 |
| Nasogastric tube feeding 0.3208496739469342 0.1210882727555757 0.9036211178106188 1.0 1.0 26 Q96N66,Q96C86,Q15233,Q08J23 4 |
| Recurrent acute respiratory tract infection 0.5427531837477275 0.1205210102868023 0.9040704371497468 1.0 1.0 2 Q03518 1 |
| Abnormal labia minora morphology 0.2536731464188138 0.1202119407479226 0.9043152590223988 1.0 1.0 9 Q9Y619 1 |
| Genital neoplasm 0.3626365780362777 0.1192845811271155 0.9050498987553786 1.0 1.0 37 P48735,O75874,Q13423,P63167,O43683,Q15437 6 |
| Diminished movement 0.3005916624816596 0.1190697934289227 0.9052200618120916 1.0 1.0 21 P06753,Q6Y7W6,O95831,Q9NQX3,P51114,Q9Y3D3 6 |
| Abnormal circulating glutamine family amino acid concentration 0.2446334212824858 0.1170542610013895 0.9068170549172236 1.0 1.0 7 O96000,P20674 2 |
| Aplasia hypoplasia of the nasal bone 0.5339534450146486 0.1169975903854842 0.906861962962104 1.0 1.0 3 P10644 1 |
| Abnormal dentin morphology 0.3633682269591876 0.1164905353196793 0.9072637867513976 1.0 1.0 5 Q5JRA6 1 |
| Progressive hearing impairment 0.27602529908951 0.1163539774724397 0.9073720082337656 1.0 1.0 15 O14908 1 |
| Vitreous hemorrhage 0.494940159683022 0.1162797648261239 0.907430822144912 1.0 1.0 4 P35222,P29992 2 |
| Abnormal rectum morphology 0.3307297251088882 0.1162051463183466 0.907489958215097 1.0 1.0 29 P53701,Q15056,Q15437 3 |
| Abnormal megakaryocyte morphology 0.3623672230652585 0.1144059200371956 0.9089160212998372 1.0 1.0 5 P27797,O75533,P62263,P04637 4 |
| Widened subarachnoid space 0.3261213264263812 0.1142076018948655 0.9090732259009272 1.0 1.0 28 Q7L7X3,P03886,Q01105,O95831,P67870,Q08209 6 |
| Abnormal aortic valve cusp morphology 0.3143396365898685 0.1138856067664985 0.909328475463991 1.0 1.0 25 P61254,P61978,Q15056,Q6PGP7 4 |
| Progressive inability to walk 0.2983667962321386 0.112939243365699 0.9100787236461478 1.0 1.0 21 Q13286 1 |
| Skin tags 0.2904719242559345 0.1127937886181878 0.9101940428819324 1.0 1.0 19 Q9UHX1,Q8NFG4,Q13428 3 |
| Hypopigmented skin patches 0.3248924866711254 0.1108784593307729 0.9117127272255068 1.0 1.0 28 P53701,Q8IZA0,P06748,Q9NZJ7,P54132,P49459,Q15437 7 |
| Abnormal lateral ventricle morphology 0.3478866589739669 0.1104373632599947 0.9120625227443836 1.0 1.0 34 P53701,Q7L7X3,Q969M3,Q01105,P67870,Q08209 6 |
| Abnormality of the anterior fontanelle 0.3399935918993906 0.1099024241169694 0.912486760024624 1.0 1.0 32 Q32P28,P26640,P40855,Q9Y487,P38606,P16435,P20674,Q9Y619,A1X283,Q08J23 10 |
| Abnormal pancreas size 0.2494364673392392 0.1083739888070999 0.913699033516981 1.0 1.0 9 O00330 1 |
| Wide nasal ridge 0.4896161950229153 0.1078360015028891 0.9141257843237678 1.0 1.0 4 P61978 1 |
| Neoplasm of the male external genitalia 0.241077777051881 0.107149529216278 0.9146703546742068 1.0 1.0 7 Q13423 1 |
| Extrapyramidal dyskinesia 0.5318374772589465 0.1047148652600578 0.9166020660424103 1.0 1.0 2 P24752 1 |
| Prominent occiput 0.2677616753894746 0.1045487034137575 0.9167339202774158 1.0 1.0 14 Q96J02,O43175 2 |
| Neoplasm of the gallbladder 0.4866107540371961 0.1032220521668404 0.9177867382962408 1.0 1.0 4 Q9NZJ7 1 |
| Biliary tract neoplasm 0.4866107540371961 0.1032220521668404 0.9177867382962408 1.0 1.0 4 Q9NZJ7 1 |
| Progressive peripheral neuropathy 0.4866107540371961 0.1032220521668404 0.9177867382962408 1.0 1.0 4 Q9NZJ7 1 |
| Uveitis 0.243357196460183 0.1026062556368397 0.9182754777683936 1.0 1.0 8 P50851 1 |
| Unsteady gait 0.4080558716337937 0.0997655954756511 0.9205304225714904 1.0 1.0 51 Q13144,P31040,P38606,Q9NR77,P18887,P07196,Q5JRX3,O95831,Q9NR50,P61981,Q96C86,Q15907,Q10713,P53597,Q08209,O75569 16 |
| Short ribs 0.2617152449914798 0.0989549198596033 0.9211740630993652 1.0 1.0 13 Q14739,Q9Y619 2 |
| Paresthesia 0.3125656572230065 0.0987988766561051 0.9212979604295496 1.0 1.0 26 Q9H6K4,P49327,P29992,O00170,Q9NR77,O15460,P07196,P05067,Q9NZ08,P54277,Q9UHD8,P43246,P52701 13 |
| Impaired pain sensation 0.2929265110476851 0.0984284904361072 0.9215920524201082 1.0 1.0 21 P48643,P61978,O95831,Q9NR77,O15269 5 |
| Abnormal peripheral myelination 0.3394538393526612 0.0983330952789568 0.9216677992860872 1.0 1.0 33 O43681,Q9NZJ7,P03886,Q9Y5Y0,Q92734,Q9NR77,O15269,Q8TB36 8 |
| Increased muscle glycogen content 0.5207764634516298 0.0979072024913413 0.922005980707218 1.0 1.0 3 P08237,Q9BUK6 2 |
| Meningocele 0.2530628932191906 0.0969367488182399 0.9227766248808256 1.0 1.0 11 O75845,Q10713 2 |
| Dental malocclusion 0.3114864204148814 0.0960063434233169 0.9235155345145988 1.0 1.0 26 P61978,Q12959,Q8NFG4,Q12797,Q15056,P21281,P49585,Q8TC12,A1X283 9 |
| Abnormality of metacarpal epiphyses 0.3529590288315696 0.0956695168735244 0.9237830518306264 1.0 1.0 5 P16435,O95202,O96028,P51812 4 |
| Heart block 0.2917376560983258 0.0953488572711898 0.9240377369031813 1.0 1.0 21 O43772,Q99959,P23786,P50402 4 |
| Long palm 0.5188624502018013 0.0953149371788862 0.924064678517559 1.0 1.0 3 P16435 1 |
| Abnormal chorioretinal morphology 0.3149157527732136 0.0948388794494277 0.92444280470004 1.0 1.0 27 P53701,P40855,P40939 3 |
| Joint contracture of the hand 0.38738266012354 0.0945400482756861 0.9246801709659545 1.0 1.0 46 Q8IZA0,Q01968,O43175,P27635,Q9Y5Y0,Q9NR77,P07196,P16435,Q9Y619,O75844,A1X283,Q15392,P06753,Q99567 14 |
| Abnormality of the metopic suture 0.2717727953328409 0.09440931301233 0.9247840181362592 1.0 1.0 16 P61978,P30153,O75845,O00330,Q16531,P40763 6 |
| Abnormal sacrum morphology 0.3301253678081392 0.094151571342621 0.9249887542800872 1.0 1.0 31 P53701,P61978,Q14739,P27635,Q15056,P43034,P62258,Q08J23 8 |
| Horizontal nystagmus 0.3028001982117226 0.0936871684495548 0.9253576635356516 1.0 1.0 24 Q9H061,O95831,O94905,Q9NZJ7 4 |
| Abnormal circulating iga level 0.2662988563993719 0.090455922829413 0.9279249187932676 1.0 1.0 15 P54132,Q969N2,P00813,P50851 4 |
| Abnormal magnesium concentration 0.2304189435337031 0.0893817936164771 0.9287784921417136 1.0 1.0 6 P29992,P53680,P05023,P61457,Q15813 5 |
| Dysphasia 0.2849908047029048 0.0881354851996635 0.9297689929967354 1.0 1.0 20 P53701,Q01968,Q8NFG4,P53992,Q13428 5 |
| Generalized muscle weakness 0.3351497553812618 0.08737987019298 0.930369569429204 1.0 1.0 33 Q9UHD9,Q9UL01,P31040,O95831,P35637,P40939,Q5JTZ9,O95292,P06753,Q99700 10 |
| Velopharyngeal insufficiency 0.3478786669598981 0.086196201743489 0.9313104500414746 1.0 1.0 5 Q15427 1 |
| Broad chin 0.5169799878714388 0.0858463348526219 0.9315885725190064 1.0 1.0 2 P55011 1 |
| Erythroid hypoplasia 0.2837982729745777 0.0851574641660499 0.932136206371334 1.0 1.0 20 P18077 1 |
| Hyperphosphaturia 0.3471741461598612 0.0849181149798142 0.93232649013445 1.0 1.0 5 P35670,Q01968 2 |
| Bruising susceptibility 0.3417500863986976 0.0846965219278223 0.9325026611328624 1.0 1.0 35 P06748,Q9UL01,Q13126,P49257,Q9NWM8 5 |
| Gait imbalance 0.29514411289118 0.0842349602960672 0.9328696226554438 1.0 1.0 23 Q15056,Q9NR77,Q05086 3 |
| Bronchitis 0.2323109626480377 0.0841947726673382 0.9329015742401968 1.0 1.0 7 Q13315,O60934,Q9H0U3,Q03518,P54132,Q86Y56 6 |
| Depressed nasal ridge 0.2829652401362776 0.0830972167299959 0.933774238921648 1.0 1.0 20 O43683 1 |
| Spastic tetraparesis 0.2904932889371968 0.0823892739669538 0.9343371651866595 1.0 1.0 22 Q9NZJ7,Q9H9P8,P31040,P38606,O94905,P43034 6 |
| Convex nasal ridge 0.2821168432261366 0.0810159242688869 0.935429288398848 1.0 1.0 20 O75844 1 |
| Lambdoidal craniosynostosis 0.5066223192338606 0.0797975613817534 0.9363982638763408 1.0 1.0 3 P61978 1 |
| Undetectable light and dark adapted electroretinogram 0.4688146784716295 0.0781372425127903 0.9377188825006372 1.0 1.0 4 P49585 1 |
| Abnormality of the auditory canal 0.2923152260362956 0.0773335852940308 0.9383581736968902 1.0 1.0 23 P61254,P16435,Q9Y619,Q13428 4 |
| Prominent supraorbital ridges 0.2529830414580296 0.0769565354016896 0.938658122103056 1.0 1.0 13 Q8IWS0,P49459 2 |
| Peripheral opacification of the cornea 0.5078835657974548 0.0757336082698927 0.9396310372325608 1.0 1.0 2 P54886 1 |
| Impaired collagen induced platelet aggregation 0.5075803517283219 0.0754146525139242 0.9398848013884844 1.0 1.0 2 Q8N5K1 1 |
| Abnormal epiphyseal ossification 0.2636887209596917 0.074375091943283 0.9407119276489572 1.0 1.0 16 P40855,Q14739,P38435,P10644 4 |
| Abnormality of the coagulation cascade 0.3446307846168713 0.0730962017666171 0.9417295641260042 1.0 1.0 37 P06748,Q4KMQ2,Q9Y487,P38606,P49257,P40939,Q9Y619,Q6NUQ1 8 |
| Platyspondyly 0.3330124437127122 0.0728048029012181 0.9419614489397908 1.0 1.0 34 P48735,Q32P28,Q96AY3,Q14739,O95831,O75874,P49585,Q6NUQ1,Q5JRA6,P00813 10 |
| Abnormal morphology of the musculature of the neck 0.246474652255295 0.0708390680767925 0.9435258380827998 1.0 1.0 12 O75569,P35637 2 |
| Radioulnar synostosis 0.2813399701786908 0.0698273155059776 0.944331105607228 1.0 1.0 21 P61254,P16435,Q15056 3 |
| Neoplasm of the rectum 0.2538772512860369 0.0697665407012554 0.944379478914004 1.0 1.0 14 P54277,P31040,Q15437 3 |
| Erythroderma 0.2262852249807462 0.0696412312708159 0.9444792187796224 1.0 1.0 7 P48449,P00813,Q10567 3 |
| Partial duplication of the phalanx of hand 0.2851195373742527 0.0695322013891179 0.9445660016694116 1.0 1.0 22 P18077 1 |
| Abnormal renal insterstitial morphology 0.2497367093727539 0.0692766384598243 0.9447694208615552 1.0 1.0 13 P23786,Q15056 2 |
| Persistence of hemoglobin f 0.2849885679489414 0.0692272882152227 0.9448087023530014 1.0 1.0 22 P18077 1 |
| Head tremor 0.2531224677768871 0.0680157712303286 0.9457730797312291 1.0 1.0 14 Q9Y4W6,P35637 2 |
| Decreased circulating igg level 0.2570278968154877 0.067963888650458 0.945814380471524 1.0 1.0 15 P17812,P54132,P50851 3 |
| Abnormal facial expression 0.3340392958385147 0.0662068633113585 0.9472131326336062 1.0 1.0 35 O14908,Q6Y7W6,P38606,Q9NR77,Q05086,Q9Y5P4,Q99700 7 |
| Telangiectasia of the skin 0.2836469346608348 0.0661269760284909 0.9472767340851728 1.0 1.0 22 Q8IZA0,Q14739,P06748,Q9UER7 4 |
| Sudden death 0.2989703158495248 0.0655244678042449 0.9477564257031728 1.0 1.0 26 P50402,P40939,Q15056,O15460 4 |
| Abnormal myeloid cell morphology 0.4572683348810603 0.0638694949739258 0.9490741421526644 1.0 1.0 4 P41440 1 |
| Neonatal alloimmune thrombocytopenia 0.4572074170689876 0.0637983136670822 0.9491308210240788 1.0 1.0 4 O75792 1 |
| Chronic lymphatic leukemia 0.4572074170689876 0.0637983136670822 0.9491308210240788 1.0 1.0 4 O75792 1 |
| Csf pleocytosis 0.4572074170689876 0.0637983136670822 0.9491308210240788 1.0 1.0 4 O75792 1 |
| Csf lymphocytic pleiocytosis 0.4572074170689876 0.0637983136670822 0.9491308210240788 1.0 1.0 4 O75792 1 |
| Moyamoya phenomenon 0.4572074170689876 0.0637983136670822 0.9491308210240788 1.0 1.0 4 O75792 1 |
| Chronic leukemia 0.4572074170689876 0.0637983136670822 0.9491308210240788 1.0 1.0 4 O75792 1 |
| Chilblains 0.4572074170689876 0.0637983136670822 0.9491308210240788 1.0 1.0 4 O75792 1 |
| Asymmetry of the ears 0.490144534422312 0.0617098980904111 0.950793857458178 1.0 1.0 3 Q9UHX1 1 |
| Multifocal epileptiform discharges 0.3165989472436842 0.0615361221976982 0.9509322475492836 1.0 1.0 31 Q9UBX3,Q08J23,Q96C86,Q96F86,Q96N66,Q08209 6 |
| Acute myeloid leukemia 0.3232754960831441 0.059190913406926 0.9528000470051948 1.0 1.0 33 P06748,P46777,P35658,P11766,P61254,Q9UJV9,P18077,P54132,P42766 9 |
| Laryngomalacia 0.249173911537199 0.0590935031407846 0.9528776333430806 1.0 1.0 14 P27635,P16435,Q9NZJ7 3 |
| Elevated serum acid phosphatase 0.4521459174973428 0.0580317082953882 0.9537233715103036 1.0 1.0 4 Q9NZJ7 1 |
| Nemaline bodies 0.4861692114281309 0.0578075167227966 0.953901950714831 1.0 1.0 3 P06753 1 |
| Thoracic kyphosis 0.2525172596880534 0.0578028792729883 0.95390564468768 1.0 1.0 15 P51648,O95831 2 |
| Abnormal larynx morphology 0.3033172429732963 0.0577998207212045 0.9539080809856946 1.0 1.0 28 O14908,Q9NZJ7,Q14739,P27635,P38919,Q9UHX1,P16435,Q15427 8 |
| Abnormality of vitamin b12 metabolism 0.2367833904148118 0.0577899996599899 0.9539159039825028 1.0 1.0 11 Q99707,P41440 2 |
| Pure red cell aplasia 0.2758941727726838 0.057479754430961 0.954163033064666 1.0 1.0 21 P18077 1 |
| Ectopia lentis 0.2284932093594057 0.0568750462793401 0.9546447323125418 1.0 1.0 9 P49585 1 |
| Pulmonary artery stenosis 0.2559387363289036 0.0566944165147004 0.954788621839362 1.0 1.0 16 P27635,Q15056,Q6PGP7 3 |
| Abnormal tissue metabolite concentration 0.2557337985941875 0.0562472111504808 0.9551448716070698 1.0 1.0 16 P40855,Q9NZJ7 2 |
| Tapered finger 0.3372671000103867 0.0561157863388945 0.9552495680747026 1.0 1.0 37 Q9UL01,Q8IWS0,P27635,Q14671,P23786,Q8NCH0,Q06136,Q15907,O60488 9 |
| Membranoproliferative glomerulonephritis 0.4860521528198926 0.0555914545753851 0.955667272239784 1.0 1.0 2 O95394 1 |
| Abnormal left ventricle morphology 0.3095207788709702 0.0543798058932063 0.9566325676074844 1.0 1.0 30 Q15233,P40939,O43683 3 |
| Metatarsus valgus 0.4822565969062821 0.0541353014516326 0.9568273669816504 1.0 1.0 3 Q9H173,Q8NAT1 2 |
| Aplasia hypoplasia of the earlobes 0.2342070517446925 0.0522341670903219 0.9583421086818285 1.0 1.0 11 P53992,P98175 2 |
| Cortical myoclonus 0.4795268425841762 0.051670523420728 0.9587912247559912 1.0 1.0 3 P29992,O95394 2 |
| Yellow white lesions of the retina 0.480594299575502 0.0513999370156761 0.959006834962685 1.0 1.0 2 P06400 1 |
| Hyperlipidemia 0.3080856011855801 0.0512555362801545 0.959121898410724 1.0 1.0 30 P50402,Q92734,P49257,Q969N2,P23786,O75844,P28070 7 |
| Abnormal circulating cholesterol concentration 0.3234850469831404 0.0511403165152638 0.9592137100736562 1.0 1.0 34 P48643,Q9NZJ7,P50402,Q14739,Q15800,Q8NFG4,Q15392 7 |
| Lumbar kyphosis 0.4796846573681037 0.0507320161637972 0.959539064279514 1.0 1.0 2 Q96AX1 1 |
| Chronic noninfectious lymphadenopathy 0.4772302695318937 0.0496577925021558 0.9603950916407012 1.0 1.0 3 Q9UER7 1 |
| Biliary tract abnormality 0.2994730207395043 0.04942406483204 0.9605813506313374 1.0 1.0 28 O43681,Q9NZJ7,Q14739,P09601,Q9UJW0,Q10713 6 |
| Buphthalmos 0.476854425008442 0.0493336465686097 0.9606534060687932 1.0 1.0 3 A1X283 1 |
| Plagiocephaly 0.3260162421340677 0.0482915892077936 0.961483857574738 1.0 1.0 35 Q15233,Q9Y3Z3,P30153,Q01105,Q96A33,O75792,Q10713,Q08209 8 |
| Abnormal atrioventricular valve morphology 0.3335759799538573 0.0480265805680497 0.9616950588149368 1.0 1.0 37 P53701,Q15233,Q9UL01,O75844,Q15056 5 |
| Sensory neuropathy 0.3333350074367123 0.0475083105878066 0.9621081069250788 1.0 1.0 37 P03886,O95831,Q92734,P51797,P40939,O94905,Q15067,P22626 8 |
| Central primitive neuroectodermal tumor 0.4721043056397834 0.0454942758176238 0.9637133374122102 1.0 1.0 2 P04637 1 |
| Facial telangiectasia 0.3221928329192004 0.0451373407086159 0.9639978381590308 1.0 1.0 5 Q9UER7 1 |
| Hypersomnia 0.4696785930867209 0.0439382653451147 0.9649536134058734 1.0 1.0 2 O00170 1 |
| Retrocollis 0.4700133597403892 0.0436866988643205 0.9651541418634432 1.0 1.0 3 P35637 1 |
| Somatic mutation 0.3501152587593273 0.0425468271130035 0.9660627828863716 1.0 1.0 42 P06748,P35658,Q92733,O75874,Q8NFG4,P63167,Q969N2,O43683,Q8N9N2 9 |
| Neoplasm of the endocrine system 0.3347011328896012 0.0422636536917451 0.9662885195348828 1.0 1.0 38 P49327,Q9UER7,P48735,Q96GM5,P02545,P31040,O75874,O14497,P35240,P10644,Q8NFG4,P35222,P54277,P52701,P36957,Q15437 16 |
| Delirium 0.4669496664645257 0.0422547836315283 0.9662955905023496 1.0 1.0 2 Q9UJS0 1 |
| Adenocarcinoma of the colon 0.2679680357777392 0.0407654376919911 0.9674828931685392 1.0 1.0 21 P18077 1 |
| Protein losing enteropathy 0.4661813770094064 0.0407285398383305 0.9675123089663852 1.0 1.0 3 O00443,P34949 2 |
| Choroidal melanoma 0.4639175257731976 0.0404654295709481 0.9677220676614304 1.0 1.0 2 P29992 1 |
| Metamorphopsia 0.4639175257731976 0.0404654295709481 0.9677220676614304 1.0 1.0 2 P29992 1 |
| Photopsia 0.4639175257731976 0.0404654295709481 0.9677220676614304 1.0 1.0 2 P29992 1 |
| Mydriasis 0.4639175257731976 0.0404654295709481 0.9677220676614304 1.0 1.0 2 P29992 1 |
| Inferior lens subluxation 0.4639175257731976 0.0404654295709481 0.9677220676614304 1.0 1.0 2 P29992 1 |
| Uveal melanoma 0.4639175257731976 0.0404654295709481 0.9677220676614304 1.0 1.0 2 P29992 1 |
| Abnormality of fontanelles 0.3678991143274516 0.0400885303921577 0.9680225458733652 1.0 1.0 47 Q9UL01,Q32P28,P40855,Q9Y487,P38606,P98175,Q9Y619,P20674,O75844,Q8NCH0,Q08J23 11 |
| Abnormality of pulmonary circulation 0.2946571681365728 0.0393957583161123 0.9685748616594074 1.0 1.0 28 Q8IZA0,O95235,P03886,Q9NZ08,O75844 5 |
| Ocular pain 0.4640582347588813 0.0391511705732643 0.9687698639984056 1.0 1.0 3 Q15043,P29992 2 |
| Increased megakaryocyte count 0.4640582347588793 0.0391511705732626 0.9687698639984068 1.0 1.0 3 P27797,P04637 2 |
| Abnormal renal tubule morphology 0.2827639254427069 0.039016998813001 0.9688768358398688 1.0 1.0 25 P03886,O43819,P23786,Q15056,P09001 5 |
| Progressive visual loss 0.2943888261070462 0.038852152456527 0.9690082645482264 1.0 1.0 28 P03886,Q8TC12,Q13286,P50897 4 |
| Adrenocorticotropin deficient adrenal insufficiency 0.4613284804367594 0.037186425280218 0.9703363621841324 1.0 1.0 3 O00170,O00255 2 |
| Hashimoto thyroiditis 0.4605515745662526 0.0366400930813653 0.9707719753233608 1.0 1.0 3 Q15437 1 |
| Embryonal neoplasm 0.2775340512314612 0.0363898670670924 0.9709714937386742 1.0 1.0 24 O43683 1 |
| Autoimmune hemolytic anemia 0.2183154453489201 0.036109735999121 0.9711948591873852 1.0 1.0 9 P40763,P00813,P50851 3 |
| Fatiguable weakness of proximal limb muscles 0.4293383378907539 0.0355438487042068 0.9716460822384744 1.0 1.0 4 Q92734 1 |
| Abnormal mitral valve physiology 0.3425211098510045 0.0346807868309493 0.9723342815981908 1.0 1.0 41 P53701,Q9UL01,O95235,O43819,Q9NZ08,O75844,Q15056 7 |
| Decreased specific anti polysaccharide antibody level 0.4526986052152837 0.0345484839987705 0.9724397807631991 1.0 1.0 2 P49327 1 |
| Persistent ebv viremia 0.4526986052152836 0.0345484839987702 0.9724397807631996 1.0 1.0 2 O95394 1 |
| External ear malformation 0.2529841208897339 0.0344782801716157 0.972495761961392 1.0 1.0 18 P40855,Q9UL01 2 |
| Delayed ossification of carpal bones 0.4514857489387525 0.0339717840240889 0.972899650795848 1.0 1.0 2 P36776 1 |
| Heterophoria 0.4499696785930886 0.0332673483051349 0.9734613916178818 1.0 1.0 2 Q7Z392 1 |
| Long toe 0.2207342827372131 0.0332177316721914 0.973500958095428 1.0 1.0 10 Q9UHX1,Q8WXI9,P23786,P10644 4 |
| Skin rash 0.2601457723171343 0.033108419577597 0.9735881285801928 1.0 1.0 20 Q14739,P31040,P54132,Q06136,P28070 5 |
| Abnormal proportion of cd4 positive t cells 0.2127006760256395 0.0329853031232078 0.9736863076731788 1.0 1.0 8 P54132,P49327,Q13432 3 |
| Aplasia hypoplasia of the humerus 0.2166514737161953 0.0329782530461825 0.9736919297621104 1.0 1.0 9 P53597,P21333,O15228,Q9BV10,O00116,P36776,O75369,Q9Y5S9 8 |
| Amelogenesis imperfecta 0.44906003638569 0.032853338023835 0.9737915435519096 1.0 1.0 2 Q6P4Q7 1 |
| Cutaneous photosensitivity 0.275691763046655 0.0327867821642296 0.9738446188518128 1.0 1.0 24 Q9Y3Z3,P22830,Q06136,P54132,P14324,Q08J23 6 |
| Serositis 0.2669834791706644 0.0311427472223845 0.9751556988351516 1.0 1.0 22 Q0IIM8,O15460,Q9NZ08,Q9BW27,Q8N1F7 5 |
| Torsion dystonia 0.4448150394178309 0.0310049690396551 0.9752655768588054 1.0 1.0 2 P04350 1 |
| Aspiration pneumonia 0.2784637872333256 0.0305775308015443 0.975606461592198 1.0 1.0 25 P06753,O14908,Q96GM5,O14497,Q92734,Q6NUK1,P78318,P21281,P43034,P08559 10 |
| Lower eyelid coloboma 0.4233372774590969 0.0305318371191328 0.9756429028613676 1.0 1.0 4 Q13428 1 |
| Cutis laxa 0.2978661567548762 0.0303123131474851 0.9758179766143604 1.0 1.0 30 Q9UL01,Q9Y487,P38606,Q8NCH0,Q15056,A1X283,Q9Y3D3,P38435 8 |
| Abnormality of alkaline phosphatase level 0.2623222213412132 0.0297656119189651 0.9762539843207212 1.0 1.0 21 Q96AY3,Q14739,O75845,P22681,Q96A33,Q969N2,Q92643,P09651,P22626,P14314 10 |
| Bilateral sensorineural hearing impairment 0.2819401499412979 0.0297332981259802 0.9762797555905456 1.0 1.0 26 P03886,Q9NZJ7,P35637,Q15067 4 |
| Abnormality of the 2nd toe 0.2185480404866481 0.0291955042860266 0.9767086667669388 1.0 1.0 10 O60488,P21281 2 |
| Neoplasm of the large intestine 0.3509553521982602 0.0286098184490059 0.9771757813010592 1.0 1.0 44 Q15437,P46777,P31040,P61254,Q8NFG4,P63167,P54277,P18077,Q8WX93,P10644,P54132,O43683,P42766,P52701 14 |
| Hypochromic anemia 0.2290842713720723 0.0267640465722658 0.9786479296176372 1.0 1.0 13 P49327,O75027,Q96Q11,O75533,P46100,Q15046,O76031,Q96JJ3,Q9UER7,Q9Y4L1,Q10471,P28288 12 |
| Scrotal hypoplasia 0.2606055603858006 0.0265694782245659 0.978803117509919 1.0 1.0 21 Q8IWS0,Q15555,P18074,P46977,Q9UBM7,Q9H2M9,P16435,Q6NUK1,Q13428,P07437,Q8TCJ2 11 |
| Thromboembolism 0.417822547301237 0.0262389926024627 0.9790667149802228 1.0 1.0 4 O95235 1 |
| Limb girdle muscle weakness 0.2643015108831916 0.0261187742972467 0.979162602446725 1.0 1.0 22 Q13126,Q9NZJ7,O14979 3 |
| Acanthosis nigricans 0.2167173252279672 0.0259232401038859 0.9793185633515256 1.0 1.0 10 O75431,Q13608,P53618,O00170,P02545,P14923,P31751,P28070,Q13620 9 |
| Cerebellar vermis atrophy 0.2203263950390495 0.0252918954111755 0.97982213838991 1.0 1.0 11 Q14671,Q10713 2 |
| Protrusio acetabuli 0.4420892029350488 0.0252425467944097 0.979861500322347 1.0 1.0 3 Q96AY3 1 |
| Proximal femoral metaphyseal abnormality 0.4138349514563186 0.0233159179417823 0.9813982744842062 1.0 1.0 4 Q5F1R6,Q9NUQ7,Q9Y3A5 3 |
| Deformed rib cage 0.4138349514563125 0.0233159179417781 0.9813982744842096 1.0 1.0 4 Q7Z2Z2,Q5F1R6,Q9Y3A5 3 |
| Abnormality of vitamin e metabolism 0.4138349514563125 0.0233159179417781 0.9813982744842096 1.0 1.0 4 Q7Z2Z2,Q5F1R6,Q9Y3A5 3 |
| Proximal femoral epiphysiolysis 0.4138349514563125 0.0233159179417781 0.9813982744842096 1.0 1.0 4 Q7Z2Z2,Q5F1R6,Q9Y3A5 3 |
| Reduction of neutrophil motility 0.4138349514563125 0.0233159179417781 0.9813982744842096 1.0 1.0 4 Q7Z2Z2,Q5F1R6,Q9Y3A5 3 |
| Lower limb metaphyseal irregularity 0.4138349514563088 0.0233159179417753 0.9813982744842118 1.0 1.0 4 Q5F1R6,Q9Y3A5,P26373 3 |
| Abnormality of the septum pellucidum 0.3327488102295591 0.0229344013731092 0.9817025992789729 1.0 1.0 40 P53701,O43175,Q96C86,Q96F86,Q96N66,Q15392,Q08J23 7 |
| Microscopic hematuria 0.411030543213178 0.0213487778552238 0.9829674335901626 1.0 1.0 4 Q9BW27 1 |
| Overlapping toe 0.2655524591062522 0.0212365601936807 0.9830569500350276 1.0 1.0 23 P61978,Q96A33,Q9UHX1,Q9UBM7,Q15427,Q15907,P49459 7 |
| Pyoderma gangrenosum 0.4135839902971518 0.0210743912557078 0.9831863131749918 1.0 1.0 2 O75083 1 |
| Metopic synostosis 0.4338032229114311 0.0210446748966489 0.9832100181418816 1.0 1.0 3 P61978 1 |
| Eeg with focal spike waves 0.4129775621588859 0.0209360010353855 0.9832967082382194 1.0 1.0 2 Q9ULP9 1 |
| Confusion 0.249487083327753 0.0207879708816382 0.983414793512842 1.0 1.0 19 P40939,Q9NZ08 2 |
| Thyroid adenoma 0.3021053695273014 0.0206602864636355 0.9835166490632584 1.0 1.0 5 P10644 1 |
| Prematurely aged appearance 0.3160523419757625 0.0205642213811953 0.983593281628363 1.0 1.0 36 P06748,Q9Y487,Q13126,O75844,Q15056 5 |
| Hypoplasia of the ear cartilage 0.4099454214675581 0.0202701793728561 0.9838278443109612 1.0 1.0 2 P57740 1 |
| Anasarca 0.4093389933292923 0.0201421266024742 0.9839299947837808 1.0 1.0 2 Q9NSD9 1 |
| Malignant neoplasm of the central nervous system 0.26860117170893 0.0196422838755315 0.9843287326762252 1.0 1.0 24 O75874 1 |
| Fasciculations 0.323234178525948 0.0195219133836413 0.9844247560209696 1.0 1.0 38 Q9NZJ7,O95831,Q92734,P35637,Q16637,O43819,Q9NQX3,P51114,P22626,Q99700 10 |
| Truncal titubation 0.429623087227682 0.01912326755734 0.98474276999611 1.0 1.0 3 Q9Y5Y0 1 |
| Abnormal mitochondria in muscle tissue 0.2485307156819896 0.0191220925613154 0.9847437073358996 1.0 1.0 19 O75251,Q9Y4W6,P03886,P31040,Q9Y6M9,Q96CU9 6 |
| Abnormality of female external genitalia 0.3148037823539745 0.0182526457246954 0.985437304402652 1.0 1.0 36 P53701,Q15392 2 |
| Central hypothyroidism 0.2159291827094261 0.017794743753644 0.9858025979742446 1.0 1.0 11 O00170,P27635,P35222,P35240 4 |
| Coronal cleft vertebrae 0.4264482863208952 0.0177475227375961 0.985840268944927 1.0 1.0 3 O75369,P36776 2 |
| Childhood onset 0.3375681252189562 0.0175122951699562 0.9860279242238086 1.0 1.0 42 O00165,P40763,Q9H269,Q14566,Q01968,P50402,Q9Y5Y0,P22830,Q9NR77,Q5JRX3,Q8N0X7,Q16531,Q8TB36,P50213,O60488,Q8WWV3 16 |
| Dry hair 0.3929654335961207 0.0172636136353201 0.9862263133874885 1.0 1.0 2 P46778 1 |
| Cardiac arrest 0.2908449472821153 0.0172419829910149 0.986243569576198 1.0 1.0 30 O43772,Q15056,P50402 3 |
| Widely spaced incisors 0.4249441076740512 0.0171201431762672 0.9863407693360108 1.0 1.0 3 Q9BSJ2 1 |
| Abnormality of pain sensation 0.2904632961518929 0.0165620442107099 0.9867860047344 1.0 1.0 30 P48643,P61978,Q9UL01,O95831,Q9NR77,P07196,Q8NCH0,O15269 8 |
| Palmar pits 0.3862947240751989 0.0163708682898749 0.986938520371534 1.0 1.0 2 P16615 1 |
| Long ear 0.3847786537295349 0.0161874184194722 0.9870848727968542 1.0 1.0 2 P63241 1 |
| Abnormal oral physiology 0.3972007594434663 0.01597760701756 0.9872522564267588 1.0 1.0 58 P55795,P35637,O15460,Q9Y5P4,P06753,O60488,Q99700,P09417,Q9NR77,Q05086,P40763,Q9UHD9,P06748,Q14739,P10644,Q15233,Q9NW08,Q8N0X7,O95292 19 |
| Abnormal thyroid morphology 0.3170054559126503 0.015190038696578 0.9878805687152206 1.0 1.0 37 Q96J02,P48735,Q96GM5,O75874,O14497,P50851,P10644,Q8NFG4,P54277,P52701,Q13428,P00813,Q15437 13 |
| Recurrent pancreatitis 0.4197440885686859 0.0150681138702723 0.9879778395189052 1.0 1.0 3 P03886 1 |
| Abnormal choroid morphology 0.2817231022497614 0.0150051005992289 0.98802811115147 1.0 1.0 28 P53701,P40855,P40939 3 |
| Burkitt lymphoma 0.3711340206185586 0.0148184136577949 0.9881770492196352 1.0 1.0 2 P49327 1 |
| Abnormality of the upper arm 0.2539328371573256 0.0147972506940599 0.9881939329704924 1.0 1.0 21 P50402 1 |
| White forelock 0.3690115221346289 0.0146460850976971 0.9883145325965036 1.0 1.0 2 P02545 1 |
| Abnormal thyroid hormone level 0.4176524112829843 0.0142922055637936 0.9885968580566816 1.0 1.0 3 O14654,Q93008 2 |
| Extra axial cerebrospinal fluid accumulation 0.4176524112829768 0.0142922055637909 0.9885968580566836 1.0 1.0 3 P20700,Q03252 2 |
| Malignant genitourinary tract tumor 0.2575514172160971 0.0142087014721791 0.9886634779173537 1.0 1.0 22 P18077 1 |
| Microdontia 0.273357235504385 0.0141694353452853 0.9886948046001088 1.0 1.0 26 Q15436,Q9Y4P3,Q15555,Q9Y487,Q96A33,Q7LGA3,Q6NUK1,Q9Y619,Q15056,P21281 10 |
| Night sweats 0.3620375985445743 0.0141453804112425 0.9887139957372348 1.0 1.0 2 Q9UJS0 1 |
| Peripheral arterial stenosis 0.3614311704063088 0.0141062618913851 0.9887452046864148 1.0 1.0 2 P02545 1 |
| Third degree atrioventricular block 0.359915100060645 0.0140113548913064 0.9888209220333212 1.0 1.0 2 P02545 1 |
| Reduced factor xiii activity 0.3599151000606447 0.0140113548913064 0.9888209220333212 1.0 1.0 2 Q02750 1 |
| Amegakaryocytic thrombocytopenia 0.3599151000606447 0.0140113548913064 0.9888209220333212 1.0 1.0 2 Q02750 1 |
| Reduced factor xii activity 0.3599151000606447 0.0140113548913064 0.9888209220333212 1.0 1.0 2 Q02750 1 |
| Obsessive compulsive trait 0.295074756918509 0.0135653378550289 0.989176758310336 1.0 1.0 5 P61981 1 |
| Neonatal onset 0.2609106095017052 0.0131875668290214 0.9894781490126676 1.0 1.0 23 Q9H490,P40939,Q8TB36,A1X283,P53597,P09001 6 |
| Posterior pharyngeal cleft 0.334445118253489 0.0129181762204766 0.9896930733094936 1.0 1.0 2 O15344 1 |
| Abnormality of the costochondral junction 0.413709432817721 0.0129035978109709 0.989704704227934 1.0 1.0 3 Q5F1R6,Q9Y3A5 2 |
| Proximal femoral metaphyseal irregularity 0.413709432817721 0.0129035978109709 0.989704704227934 1.0 1.0 3 Q5F1R6,Q9Y3A5 2 |
| Enlargement of the costochondral junction 0.413709432817721 0.0129035978109709 0.989704704227934 1.0 1.0 3 Q5F1R6,Q9Y3A5 2 |
| Eeg with irregular generalized spike and wave complexes 0.4131028207461364 0.0126983358462557 0.989868466162259 1.0 1.0 3 Q9ULP9,Q9NQZ5 2 |
| Nephrogenic diabetes insipidus 0.3229229836264423 0.0126499537705236 0.9899070663731248 1.0 1.0 2 Q9H0F7 1 |
| Finger agnosia 0.3114008489993957 0.012470774142082 0.990050019755274 1.0 1.0 2 P05067 1 |
| Deposits immunoreactive to beta amyloid protein 0.3114008489993957 0.012470774142082 0.990050019755274 1.0 1.0 2 P05067 1 |
| Abnormal urine cytology 0.3192885128387001 0.0123191735290479 0.990170970252212 1.0 1.0 38 P06748,Q01968,P31040,P49257,O15460,Q9BW27,P09601,P40763,Q8N1F7,O60488 10 |
| Retinal perforation 0.2771376591873887 0.0122366225210064 0.9902368314626184 1.0 1.0 2 P35222 1 |
| Abnormal mitochondrial shape 0.3959405584759264 0.0119575118178935 0.9904595132885464 1.0 1.0 4 Q00325 1 |
| Increased mean corpuscular volume 0.2640288118649199 0.0117691860070324 0.9906097649716998 1.0 1.0 24 P18077 1 |
| Hypotension 0.2836530995074354 0.0115414961281828 0.9907914228710356 1.0 1.0 29 O43772,O43681,Q9NZJ7,Q13423,Q9UER7 5 |
| Widow s peak 0.4091241151472572 0.0114055376177736 0.9908998949273652 1.0 1.0 3 P21281 1 |
| Saccadic smooth pursuit 0.3940696997221988 0.0109265830514738 0.9912820215548006 1.0 1.0 4 Q10713 1 |
| Ventricular hypertrophy 0.3103153274780112 0.0102082712080991 0.9918551194721874 1.0 1.0 36 O43772,Q15233,P03886,P40939,O75844 5 |
| Intracranial hemorrhage 0.2630427905637495 0.0101326757478707 0.9919154328033142 1.0 1.0 24 P49257 1 |
| Thrombocytosis 0.2906520758916204 0.010055399702475 0.991977087025798 1.0 1.0 31 P61254,P18077 2 |
| Tonic seizure 0.2827420689117058 0.0099943356132892 0.992025806671597 1.0 1.0 29 Q9NZJ7,Q7L7X3,P27635,Q01105,P67870,P43034,Q08209 7 |
| Asthma 0.2584211548054452 0.0090711757052522 0.9927623482164304 1.0 1.0 23 P50851,Q9UJV9,Q5JRA6,P00813,Q08J23 5 |
| Vertigo 0.2621655477521744 0.0086948695464366 0.993062585243114 1.0 1.0 24 P06748,P49327,P31040,P35240,O15460,P10644,Q9NZ08,P35222,P40763,P36957 10 |
| Abnormality of adrenal morphology 0.2738432858195098 0.0083305196594081 0.993353283858027 1.0 1.0 27 O75874,O75844 2 |
| Hemiparesis 0.2297231184508664 0.0079053777583865 0.9936924868373408 1.0 1.0 16 P49327,O00429,P03886,Q9NZ08,P00403 5 |
| Abnormal synaptic transmission at the neuromuscular junction 0.2695550019880614 0.0077959061988641 0.9937798298128592 1.0 1.0 26 Q9UHD9,O14908,Q92734,P35637,O95292,P06753,Q99700 7 |
| Impaired vibratory sensation 0.3047215347130697 0.0072960702881262 0.9941786298104364 1.0 1.0 35 O00165,Q9NR77,O43819,Q9Y619,Q8N0X7,Q99700 6 |
| Hoarse voice 0.2690935687806569 0.0070439464041165 0.9943797903935638 1.0 1.0 26 O75792,Q8N0X7 2 |
| Abnormal erythrocyte enzyme level 0.2529739176350664 0.0067227255680423 0.994636081466526 1.0 1.0 22 P18077 1 |
| Cervical ribs 0.3904081219264972 0.0064556712589028 0.9948491553504296 1.0 1.0 3 Q9UHX1 1 |
| Phocomelia 0.3891976264394468 0.0061933236632697 0.9950584742596053 1.0 1.0 3 Q15427 1 |
| Focal motor seizure 0.259586059795653 0.0045656517789689 0.9963571495915392 1.0 1.0 24 Q7L7X3,Q01105,P67870,P43034,Q08209 5 |
| Heterogeneous 0.333588327836083 0.0034463378939023 0.9972502256464372 1.0 1.0 43 P03886,Q9BQE5,Q9NR77,P40939,Q9Y619,O75844,Q8TB36,Q9Y3D3 8 |
| Pancreatic cysts 0.3730664240218333 0.0032606827287673 0.997398356203176 1.0 1.0 3 Q9Y5S9,Q14697 2 |
| Increased circulating igg level 0.3697300576281402 0.0027716667153507 0.9977885327515964 1.0 1.0 3 P49327,O95394 2 |
| Progressive night blindness 0.2261541341703837 0.0025447784249226 0.997969562775574 1.0 1.0 16 Q8TC12,Q10713,P50213 3 |
| Chronic oral candidiasis 0.3624507127691772 0.0018252629803125 0.9985436516572616 1.0 1.0 3 O00203,O75083 2 |
| Poor suck 0.2817066486728633 0.0018154121886815 0.9985515114387936 1.0 1.0 30 Q15233,P40939,Q05086,O43819 4 |
| Bifid tongue 0.3745885917549684 0.0017688673069703 0.9985886488216535 1.0 1.0 4 P61978 1 |
| Morphological abnormality of the vestibule of the inner ear 0.3600242644828575 0.0015438516539439 0.9987681850904822 1.0 1.0 3 P62070,P22681 2 |
| Aplasia of the semicircular canal 0.3600242644828576 0.0015438516539439 0.9987681850904822 1.0 1.0 3 P62070,P22681 2 |
| Flat face 0.2615570876401447 0.0014227671163885 0.998864796467208 1.0 1.0 25 Q03164,P40855,Q9Y487,Q9BUB7,Q96C86,Q9NRZ9,P07437 7 |
| Hyperphosphatemia 0.3571515279815023 0.0012310915310562 0.999017731322554 1.0 1.0 3 P10644 1 |
| Abnormality of the brainstem white matter 0.3537849086822577 0.0008912637507199 0.9992888745078444 1.0 1.0 3 Q10713 1 |
| Dry skin 0.2965733251922234 0.0003046098411955 0.9997569565144 1.0 1.0 34 P51648,O75792,Q96KP1,Q06136,Q6PGP7,P49459,P00813,Q08J23 8 |
| Allergy 0.1919083757637214 6.929768101345613e-05 0.9999447084502642 1.0 1.0 8 Q9H0F7,Q9Y5S9,O95394,P00813 4 |
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