| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Periventricular white matter hyperintensities 0.8980772856682973 2.542424945776414 0.0110086241376021 1.0 1.0 8 O75503,P07602 2 |
| Dysostosis multiplex 0.8918075793406495 2.5158612487294043 0.0118741919211091 1.0 1.0 8 P10619,Q9Y223,P04066,P54802,P16278 5 |
| Absent eyebrow 0.9318511193026944 2.4714914880973375 0.0134550754360567 1.0 1.0 5 O75844 1 |
| Limited wrist movement 0.8699403483150155 2.388897198410496 0.0168990302180247 1.0 1.0 6 P02545,Q9Y223,O75844 3 |
| Abnormal vascular physiology 0.5236775566517957 2.3813057646267377 0.0172513858995564 1.0 1.0 51 P51970,P02545,Q69YQ0,Q9NZ08,O15460,Q15056,P05067,O75844,P04062,O96000,Q8IZA0,Q9NWM8,Q9Y4P3,P03886,P06280,Q14108,P11047 17 |
| Calcinosis 0.9072937722933136 2.3727799995447323 0.0176547761044594 1.0 1.0 5 O75844 1 |
| Dementia 0.5299252040144847 2.3671363732164172 0.0179263260205502 1.0 1.0 56 P07602,P05067,O76024,P04062,P06865,O15118,P17900,Q5JTZ9,P61916,P03886,P35670,Q14108,Q9Y487 13 |
| Abnormal pupillary function 0.8585184852940206 2.3561864726337443 0.0184636465647725 1.0 1.0 7 P07602,Q9NR77 2 |
| Pericardial effusion 0.8614568371839828 2.3530990623776713 0.0186176734373744 1.0 1.0 6 Q14108,P04062 2 |
| Increased cerebral lipofuscin 0.8978087148771026 2.3343532386888306 0.0195772331703001 1.0 1.0 5 P50897,O75503 2 |
| Oromandibular dystonia 0.8930319539796052 2.3149378163049663 0.0206163354218746 1.0 1.0 5 Q99720 1 |
| Corneal opacity 0.5219178535248331 2.310091241732272 0.0208831032279352 1.0 1.0 55 P02545,P10619,Q5H8A4,P34913,Q15056,O75844,P04066,P04062,P51648,P52732,P34059,O00754,Q9Y4P3,P35670,P06280,P16278,O43505,P40855 18 |
| Widely patent fontanelles and sutures 0.9359353608475404 2.2749606700662555 0.022908289278092 1.0 1.0 4 O75844 1 |
| Natal tooth 0.8391048346395318 2.272782167598151 0.0230393101759158 1.0 1.0 7 P02545,O75844 2 |
| Abnormality of glycolipid metabolism 0.8322435349043696 2.243110223146483 0.024889707594992 1.0 1.0 7 P07602,P06280,P17900 3 |
| Urinary glycosaminoglycan excretion 0.8307111860740533 2.236469636263283 0.0253210241071248 1.0 1.0 7 P16278,P04066,P54802 3 |
| Bulbar signs 0.8083296727553183 2.2317720486738404 0.0256300325886864 1.0 1.0 12 P07602,Q99720,P04062,P03886 4 |
| Psychomotor deterioration 0.8172553663793437 2.2105679057397425 0.0270657732933246 1.0 1.0 9 P50897,P07602,Q9Y487 3 |
| Mitral stenosis 0.9186352434894084 2.2075920670915297 0.0272727226402849 1.0 1.0 4 O75844,P04062 2 |
| Biliary cirrhosis 0.8200334936266288 2.1900561112142203 0.0285201676763722 1.0 1.0 7 P09601 1 |
| Mitral valve calcification 0.9123042291917868 2.182820333584866 0.0290490436549195 1.0 1.0 4 O75844,P04062 2 |
| Cardiac valve calcification 0.9123042291917868 2.182820333584866 0.0290490436549195 1.0 1.0 4 O75844,P04062 2 |
| Barrel shaped chest 0.9108808093474154 2.177242179687474 0.0294625027270316 1.0 1.0 4 P04066 1 |
| Recurrent sinopulmonary infections 0.8199968739349796 2.175957025585459 0.0295584740956431 1.0 1.0 6 Q9Y487 1 |
| Abnormal biliary tract morphology 0.7214883937894357 2.1585545373284556 0.030884743027042 1.0 1.0 23 P02545,P07602,P09601,P14174,P04062,Q14108 6 |
| Cherry red spot of the macula 0.8014719747550408 2.1400356368122475 0.032351886861323 1.0 1.0 9 P07602,P17900,P16278,P10619 4 |
| Alopecia totalis 0.8101637379194513 2.1334104221377017 0.0328910728479678 1.0 1.0 6 O75844 1 |
| Abnormal pericardium morphology 0.7910841241485924 2.130548991316751 0.0331263156515964 1.0 1.0 11 P02545,O15460,P14174,P04062,Q14108 5 |
| Submucous cleft of soft and hard palate 0.7524663072593349 2.129385047059292 0.033222416566278 1.0 1.0 18 P02545,Q08J23,O75844,Q15392,Q7LGA3,O43505 6 |
| Arthritis 0.5105387636055753 2.116724303390408 0.0342832529646786 1.0 1.0 42 P21964,P02545,Q9NZ08,P10321,P14174,O15460,Q7Z406,O75844,P28070,P04062,Q9UBC1,Q96HY6,P35670,P06280,Q14108 15 |
| Toxemia of pregnancy 0.8057814887189838 2.1143834444297394 0.0344825305118419 1.0 1.0 6 P02545,O43772 2 |
| Abnormality of the temporomandibular joint 0.8944009447168839 2.1124306020996855 0.0346495325088747 1.0 1.0 4 O75844 1 |
| Oligosacchariduria 0.84234371168272 2.106312044042088 0.0351772557991867 1.0 1.0 5 P10253,P16278,P04066 3 |
| Slow pupillary light response 0.8924267772229213 2.1046384886804823 0.0353227886152001 1.0 1.0 4 P07602,Q9NR77 2 |
| Abnormal pupillary light reflex 0.8924267772229213 2.1046384886804823 0.0353227886152001 1.0 1.0 4 P07602,Q9NR77 2 |
| Insidious onset 0.8390980814132791 2.092793074350743 0.0363676303273863 1.0 1.0 5 Q9NR77,P04062 2 |
| Conical tooth 0.8003555734425719 2.090769175350697 0.036548760546341 1.0 1.0 6 Q9Y487 1 |
| Osteolysis involving bones of the feet 0.8385641796317507 2.0905673967361973 0.0365668609246754 1.0 1.0 5 O75844 1 |
| Foot acroosteolysis 0.8385641796317507 2.0905673967361973 0.0365668609246754 1.0 1.0 5 O75844 1 |
| Progressive psychomotor deterioration 0.7916235548047741 2.0797212607207136 0.0375511068491336 1.0 1.0 8 P07602,P16278 2 |
| Ankylosis 0.8354596045664129 2.077615151497787 0.0377448195348164 1.0 1.0 5 O75844 1 |
| Progressive spastic quadriplegia 0.7926363599353309 2.069845252178717 0.0384668381778172 1.0 1.0 7 P07602 1 |
| Generalized hyperkeratosis 0.7915920128759321 2.0524989702618135 0.0401211950249364 1.0 1.0 6 P02545,O75844,P04066 3 |
| Premature rupture of membranes 0.8289204022769655 2.0502769659306472 0.0403374110294603 1.0 1.0 5 O75844,Q9Y487 2 |
| Corneal ulceration 0.8280397832650584 2.0465895421240528 0.0406984025242049 1.0 1.0 5 O75844 1 |
| Abnormality of the gingiva 0.474402014518945 2.0366239286302954 0.0416877429869888 1.0 1.0 44 P53634,P04062,Q15392,P16278,P10644,Q14108 6 |
| Biliary tract abnormality 0.6743510647461353 2.032933531066665 0.0420592388252958 1.0 1.0 26 P02545,P07602,P09601,P14174,P04062,Q14108 6 |
| Generalized lipodystrophy 0.8696378609029476 2.014261066580316 0.0439821312918427 1.0 1.0 4 O75844 1 |
| Erlenmeyer flask deformity of the femurs 0.8696320930876823 2.014238093633073 0.0439845420114104 1.0 1.0 4 P07602 1 |
| Decerebrate rigidity 0.8687253385815625 2.0106259186439255 0.0443649842553055 1.0 1.0 4 P07602 1 |
| Thickened ribs 0.8670066311741513 2.003775886589795 0.0450940729917093 1.0 1.0 4 P16278,P54802 2 |
| Fragile nails 0.7676119871181062 2.0034768229266406 0.0451261328858358 1.0 1.0 10 Q13555,P02545,Q9Y487 3 |
| Abnormal midbrain morphology 0.8175592417467601 2.002598356383559 0.0452204164398926 1.0 1.0 5 P04062 1 |
| Abnormal coronary artery morphology 0.7797700181033447 2.0006196823728133 0.0454333908487696 1.0 1.0 6 P34913,P16278 2 |
| Dystrophic toenail 0.8618763097482502 1.9833027649883856 0.0473336207486239 1.0 1.0 4 O75844 1 |
| Peroneal muscle atrophy 0.8609644929273566 1.9796600242123967 0.0477417433588194 1.0 1.0 4 P02545,Q9NR77 2 |
| Aortic valve calcification 0.9602113770593717 1.973479090368224 0.0484410045340006 1.0 1.0 3 O75844,P04062 2 |
| Osteoarthritis 0.7557365972948201 1.9663961242892476 0.0492528707899626 1.0 1.0 11 P35670,Q14108,O75844,P04062 4 |
| Upper airway obstruction 0.8072669307995521 1.9592089505150527 0.0500883213588037 1.0 1.0 5 P02545,O75844 2 |
| Thin clavicles 0.9556269023592254 1.956429069745925 0.0504146305066597 1.0 1.0 3 O75844 1 |
| Angina pectoris 0.8550619249343554 1.956049843933166 0.0504592827298568 1.0 1.0 4 P02545,O75844 2 |
| Neurofibrillary tangles 0.8042886329801342 1.9466189221612469 0.0515804383487543 1.0 1.0 5 P05067,O15118 2 |
| Infantile axial hypotonia 0.754760134118382 1.9440601455729043 0.0518881985720496 1.0 1.0 10 P07602,Q15043,P17900,Q13509,O00754 5 |
| Endocarditis 0.8022955652457473 1.9381851692005976 0.0526006354813071 1.0 1.0 5 P10644,P04062 2 |
| Abnormal shoulder physiology 0.947155735156977 1.9248641261707709 0.0542463589285917 1.0 1.0 3 P02545,O75844 2 |
| Macrogyria 0.7982324948665045 1.9209710092101264 0.054735362481868 1.0 1.0 5 Q15392 1 |
| Temporal pattern 0.7584371184188565 1.917553928366305 0.0551675967169087 1.0 1.0 7 Q9NR77,P04062 2 |
| Meningitis 0.760247994638866 1.9143218186713724 0.0555790482374547 1.0 1.0 6 O15460,P02786 2 |
| Absence of subcutaneous fat 0.7563724740507892 1.9082820624037444 0.0563547701245219 1.0 1.0 7 O75844 1 |
| Angiokeratoma 0.9424930059061234 1.907457410985138 0.0564613810535516 1.0 1.0 3 P16278,P04066 2 |
| Prominent ear helix 0.8420398009950225 1.903785223904789 0.05693816169854 1.0 1.0 4 P02545,Q5T8D3,O75844 3 |
| Abnormality of the intrahepatic bile duct 0.9408973719033512 1.90149541827473 0.0572371520606938 1.0 1.0 3 P02545 1 |
| Lagopthalmos 0.940053852732698 1.898342588596449 0.0576509671614684 1.0 1.0 3 O75844 1 |
| Abnormality of the alveolar ridges 0.7926863939378129 1.8974282902141757 0.0577714347983473 1.0 1.0 5 Q15392 1 |
| Abnormal circulating copper concentration 0.7492379003491999 1.8886111009527744 0.0589439584270197 1.0 1.0 8 Q8NB90,Q10567,P35670,Q9Y487,Q14746 5 |
| Transposition of the great arteries 0.789576250820963 1.8842032982533272 0.0595374815937541 1.0 1.0 5 O75844 1 |
| Episodic tachypnea 0.7528474469679478 1.881406196150168 0.0599166846446672 1.0 1.0 6 P22695 1 |
| Impaired glucose tolerance 0.7528161808310818 1.8812669013951668 0.0599356210688357 1.0 1.0 6 Q9UKG1,P02545 2 |
| Transient ischemic attack 0.7501878013981316 1.880455990240053 0.0600459589523334 1.0 1.0 7 P02545,O75844 2 |
| Short lingual frenulum 0.8358011750574839 1.878662145312213 0.0602906397371429 1.0 1.0 4 P02545,O75844 2 |
| Abnormality of the umbilical cord 0.7490970619430302 1.8755404808244855 0.0607184058711733 1.0 1.0 7 P02545,O75844 2 |
| Eeg with spike wave complexes 0.7319843191632307 1.872898106035431 0.0610824567851899 1.0 1.0 12 Q14108 1 |
| Cold induced muscle cramps 0.93280579199972 1.871221301959337 0.0613144133417935 1.0 1.0 3 P23786 1 |
| Abnormal middle phalanx morphology of the hand 0.7431696479680029 1.860940203091436 0.0627526215518676 1.0 1.0 8 Q9UHX1 1 |
| Mixed demyelinating and axonal polyneuropathy 0.7829164508225969 1.8558301797412684 0.0634777674038358 1.0 1.0 5 P35670 1 |
| Exaggerated startle response 0.7384147934432919 1.852751043222081 0.0639180502094449 1.0 1.0 9 P17900,P16278 2 |
| Diastasis recti 0.8280088627123372 1.8472076531643296 0.0647170506290901 1.0 1.0 4 Q69YQ0 1 |
| Abnormality of femur morphology 0.4871361322634955 1.8451373256274688 0.0650175647521125 1.0 1.0 66 P02545,O95831,O75718,P38398,Q9Y487,P07602,P04066,Q32P28,Q9UHX1,Q04656,Q9BXW9,P06280,O75844,O00116,Q7LGA3,Q9Y619,Q8NCM8,P04062,P34059,O00754,P16278 21 |
| Female hypogonadism 0.7802589457549567 1.8444878366309745 0.0651120768507595 1.0 1.0 5 O75844 1 |
| Hyperintensity of cerebral white matter on mri 0.6848345493682291 1.842604471270629 0.0653867806248091 1.0 1.0 20 O75503,P07602,Q9P0J1,Q15043,P17900 5 |
| Abnormal placenta morphology 0.7382740341783023 1.8385613764003848 0.0659797265810073 1.0 1.0 8 O75844,P16278 2 |
| Pedal edema 0.7345428759878955 1.8348319781163345 0.0665305888775351 1.0 1.0 9 P10644,Q14108 2 |
| Abnormality of dental color 0.824938483109743 1.8347913646837255 0.0665366085965146 1.0 1.0 4 Q6P4Q7,P16278 2 |
| Bird like facies 0.7396699754898036 1.8329568826650784 0.0668089834539755 1.0 1.0 7 O75844 1 |
| Elevated pulmonary artery pressure 0.6557214507426604 1.832046590462144 0.0669444795829707 1.0 1.0 24 P02545,O75844,P04062,Q8IZA0,P11047,Q14108,P03886 7 |
| Hip pain 0.7771786782355736 1.8313267046418729 0.0670517940348547 1.0 1.0 5 O75844 1 |
| Vacuolated lymphocytes 0.921976997202359 1.8306032206336584 0.0671597875082656 1.0 1.0 3 P16278,P04066 2 |
| Hypocholesterolemia 0.7362111183007067 1.8291167669472992 0.0673821176830784 1.0 1.0 8 P07602 1 |
| Hypersplenism 0.7381466040973966 1.8260589498301545 0.0678413827122104 1.0 1.0 7 P07602,Q14108 2 |
| Ventricular preexcitation 0.7401991288114624 1.824899221483128 0.0680162387344183 1.0 1.0 6 O75306,P13473,P00403,P10253,P03886 5 |
| Raynaud phenomenon 0.7401008198699441 1.8244587987336487 0.0680827397341516 1.0 1.0 6 O75844 1 |
| Short nail 0.7398310832467375 1.823250286270905 0.0682654920197944 1.0 1.0 6 O75844,Q9Y487 2 |
| Irregular menstruation 0.7386201334458036 1.8178230849153567 0.069091177108115 1.0 1.0 6 P10644 1 |
| Abnormality of facial adipose tissue 0.8206740574110182 1.817525854378399 0.0691366331830418 1.0 1.0 4 P02545,O75844 2 |
| Coronary artery atherosclerosis 0.8204811233363988 1.816744154341577 0.0692562974416135 1.0 1.0 4 P34913 1 |
| Hypoplasia of the musculature 0.7380512049894457 1.8152723007559104 0.0694820735283743 1.0 1.0 6 Q9Y487 1 |
| Skeletal muscle hypertrophy 0.4505385878169021 1.814074014068093 0.0696663316309025 1.0 1.0 44 P02545,Q10713,Q9NR77,Q15056,Q15437,P04066,Q05086,Q7LGA3,Q9Y4P3,O00754,P10253,P16278 12 |
| Pericarditis 0.7719711771444717 1.8090416388587192 0.0704445347245998 1.0 1.0 5 O15460,P14174 2 |
| Hyperlipidemia 0.5935170931393375 1.806920684445977 0.0707746469234569 1.0 1.0 31 P22830,P50402,P02545,Q8WXH0,P28070,O75844,P01130,O95470,O43707,P23786,P06280,P31751,Q9Y285 13 |
| Joint swelling 0.7330363654145406 1.8028860216800684 0.0714061167257977 1.0 1.0 7 P35670,P14174 2 |
| Sea blue histiocytosis 0.9138949331675352 1.800214116150986 0.0718268357323919 1.0 1.0 3 O15118,P16278 2 |
| Delayed menarche 0.7333696698658063 1.794259113081436 0.0727718208844274 1.0 1.0 6 O75844 1 |
| Sensory ataxia 0.767722516843176 1.7908278150344437 0.0733209302364896 1.0 1.0 5 Q9NR77,P54802 2 |
| Axonal degeneration regeneration 0.7672707864823765 1.788889590995606 0.0736325984777526 1.0 1.0 5 P02545,Q6UWE0 2 |
| Hepatic failure 0.4551329902698149 1.7845028309409774 0.074341995209354 1.0 1.0 49 P22830,Q10713,O15460,P04062,O15118,P03886,P35670,P23786,Q9Y619,P40855,O43772 11 |
| Intestinal hypoplasia 0.8125037265747568 1.784380669189471 0.0743618300192101 1.0 1.0 4 O75844 1 |
| Long toe 0.720331764200796 1.783114937948315 0.0745675952721196 1.0 1.0 10 P10644,Q9UHX1,P23786 3 |
| Calvarial hyperostosis 0.7649668857620759 1.7789993522995515 0.0752398681502364 1.0 1.0 5 P10644 1 |
| Abnormality of the gallbladder 0.471631200350918 1.777615051402911 0.0754671000523785 1.0 1.0 42 P22830,P21964,Q69YQ0,P07602,Q5H8A4,Q15056,Q9Y223,P04066,Q15437,P04062,Q9Y4P3,P40855 12 |
| Abnormal intraocular pressure 0.7272826464504694 1.7767341609377694 0.0756119889484598 1.0 1.0 7 Q8NCH0,Q15043 2 |
| Pathologic fracture 0.7034907014431548 1.7748279295023737 0.0759263032088273 1.0 1.0 14 P35670,Q13126,Q14108 3 |
| Juvenile onset 0.4461500271604537 1.7726080526225478 0.0762936764531996 1.0 1.0 44 P50402,P02545,Q03252,Q9NR77,P54802,O14773,O15118,P07196,Q04656,P34059,P06753,P06280,Q14566,P16278 14 |
| Abnormal placental size 0.8088762965881022 1.7696379127790445 0.0767874788540696 1.0 1.0 4 O75844 1 |
| Loss of eyelashes 0.9050795446365876 1.7669988783810076 0.0772284161421392 1.0 1.0 3 O75844 1 |
| Osteolysis involving bones of the upper limbs 0.7224439954450379 1.7658685857583412 0.0774178986155447 1.0 1.0 8 P02545,O75844 2 |
| Increased connective tissue 0.7223328791299957 1.765356575603007 0.0775038566527273 1.0 1.0 8 P02545,O95831,Q15149,P07196,P31751 5 |
| Congenital hepatic fibrosis 0.7264529706673107 1.7631371586963456 0.0778773594009338 1.0 1.0 6 Q8NCM8,Q10713 2 |
| Aplasia hypoplasia involving the skeletal musculature 0.7181825247144193 1.758776988734391 0.0786153947497214 1.0 1.0 9 O43505,Q9Y487 2 |
| Disproportionate short trunk short stature 0.7244213934840846 1.7539789446070184 0.0794341150457886 1.0 1.0 6 Q9UHX1,P16278 2 |
| Cataplexy 0.8015940901397569 1.7399923497964311 0.0818603612821808 1.0 1.0 4 O15118 1 |
| Abnormality of pulmonary circulation 0.6005435740409619 1.7373042519177548 0.0823334814512939 1.0 1.0 29 P02545,Q69YQ0,Q9NZ08,O75844,P04062,Q8IZA0,P03886,Q14108,P11047 9 |
| Aplasia involving bones of the extremities 0.7551400411298912 1.7367225046265626 0.0824361634769348 1.0 1.0 5 P02545,Q8NCM8,Q04656 3 |
| Limitation of movement at ankles 0.8007179462578948 1.7364212853525092 0.0824893713388879 1.0 1.0 4 P02545,O75844 2 |
| Mental deterioration 0.5117187090101207 1.7357877877852963 0.0826013642258047 1.0 1.0 92 O75503,P07602,Q10713,P05067,P04062,P54802,O95470,P06865,O15118,P17900,P16278,P03886,P50897,P35670,P10644,Q14108,Q9Y487 17 |
| Hypoplastic vertebral bodies 0.717820320677684 1.733587863208554 0.0829912354467929 1.0 1.0 7 P10644,P16278 2 |
| Short umbilical cord 0.895419924888108 1.7305242520842516 0.0835366520658358 1.0 1.0 3 O75844 1 |
| Impacted tooth 0.895419924888108 1.7305242520842516 0.0835366520658358 1.0 1.0 3 O75844 1 |
| Small placenta 0.895419924888108 1.7305242520842516 0.0835366520658358 1.0 1.0 3 O75844 1 |
| Central scotoma 0.7112829134053807 1.7265413432656198 0.0842500681619695 1.0 1.0 9 O00429,O75306,O95140,Q8WWV3,Q9H061,P03886 6 |
| Glomerulopathy 0.7046387545704716 1.7089291539385214 0.0874640734194946 1.0 1.0 10 P02545,Q9NZ08,Q03252,P06280,Q14108 5 |
| Abnormality of circulating leptin level 0.7936544658429141 1.7075983154510936 0.0877109011780317 1.0 1.0 4 O75844 1 |
| Congenital sensorineural hearing impairment 0.7131256183216717 1.7029199263706083 0.0885830544409318 1.0 1.0 6 Q16740,O76024 2 |
| Dystrophic fingernails 0.7070611592251266 1.6947602881809565 0.090120903696488 1.0 1.0 8 O75844 1 |
| Abnormal circulating citrulline concentration 0.7898302231604255 1.691969270806698 0.0906518328406749 1.0 1.0 4 P03886 1 |
| Prominent sternum 0.8849860118122435 1.691039298615321 0.0908292972407389 1.0 1.0 3 P16278,O95831 2 |
| Abnormal erythrocyte sedimentation rate 0.7075060727547391 1.6863663364043138 0.0917252611973948 1.0 1.0 7 Q9UBC1,O15460,P14174 3 |
| Axial muscle weakness 0.7881943809175073 1.6852788345663428 0.0919347872937002 1.0 1.0 4 P02545,P11047 2 |
| Spinal deformities 0.8827620510100567 1.6826121744909277 0.092450193335356 1.0 1.0 3 Q9Y223 1 |
| Chondrocalcinosis 0.7419289573596091 1.6796590724960507 0.0930236671285191 1.0 1.0 5 P35670,P02545 2 |
| Osteolytic defects of the distal phalanges of the hand 0.7867169987224883 1.6792339360291009 0.0931064605491136 1.0 1.0 4 O75844 1 |
| Gingival bleeding 0.6952456382806929 1.6789978244221455 0.0931524677619981 1.0 1.0 11 P10644,Q14108 2 |
| Posterior pituitary dysgenesis 0.7077551742317797 1.6785639084332504 0.0932370654556351 1.0 1.0 6 Q9UHX1,Q9Y6N7 2 |
| Delayed social development 0.8786664216124346 1.6670831743461092 0.09549786731883 1.0 1.0 3 Q13509 1 |
| Microcytic anemia 0.7009911354201622 1.6665787332784932 0.0955982005513644 1.0 1.0 8 P22830,Q9UBX3 2 |
| Abnormality of the pulmonary veins 0.7036241058519994 1.6597942479385757 0.0969558513079045 1.0 1.0 6 Q15392 1 |
| High frequency sensorineural hearing impairment 0.7811835220896227 1.6565719120144535 0.0976060549821118 1.0 1.0 4 O75844 1 |
| Neck muscle weakness 0.6704388930384075 1.6526954082122352 0.098392869395518 1.0 1.0 16 P02545,P07602,Q99720 3 |
| Cellulitis 0.7798679772362983 1.6511793688720195 0.0987019545318221 1.0 1.0 4 P02545 1 |
| Pseudoarthrosis 0.8740802022941982 1.6496796480750169 0.0990084749168187 1.0 1.0 3 O75844 1 |
| Central apnea 0.6994382594563128 1.649295433539687 0.0990871247231144 1.0 1.0 7 P07602,O76024,Q10713 3 |
| Premature graying of hair 0.6989724227215013 1.6471514456585272 0.099526920991132 1.0 1.0 7 Q13126 1 |
| Loss of subcutaneous adipose tissue in limbs 0.7780784884223678 1.6438411801810953 0.1002090126451935 1.0 1.0 4 O75844 1 |
| Thin ribs 0.6807619402753381 1.6421298589222877 0.1005630948712337 1.0 1.0 13 P02545,Q9Y619,O75844,Q32P28 4 |
| Retinal dysplasia 0.6982192959045959 1.6351929747801504 0.1020086004032179 1.0 1.0 6 O43505,Q10713 2 |
| Segmental peripheral demyelination remyelination 0.7758084577114392 1.634527672189991 0.1021481006680242 1.0 1.0 4 Q9NR77,P07196,P03886 3 |
| Wide cranial sutures 0.6959892597343871 1.633412672430573 0.102382233576717 1.0 1.0 7 P02545,O75844 2 |
| Triangular mouth 0.6958300711643551 1.6326791075072065 0.1025365037366559 1.0 1.0 7 Q10713 1 |
| Prominent superficial blood vessels 0.6822998174094208 1.6322337464292007 0.102630254239878 1.0 1.0 12 O75844,Q9Y487 2 |
| Ulnar claw 0.7752000946683375 1.6320307809849115 0.1026730019883412 1.0 1.0 4 Q8TB36,Q9NR77 2 |
| Arteriosclerosis 0.6734428956304591 1.624652478856586 0.1042366283428324 1.0 1.0 14 P02545,P34913,O75844,O15118,P61916,P16278 6 |
| Neuronal loss in central nervous system 0.680667104282892 1.6242382847382244 0.1043249629544815 1.0 1.0 12 P07602,O15118 2 |
| Lateral clavicle hook 0.7285693203112661 1.6217039102973922 0.1048667611557072 1.0 1.0 5 Q9Y619,Q8WYA0,Q8NCM8 3 |
| Abnormality of peripheral nerves 0.4318572846806778 1.621692654674879 0.1048691723538302 1.0 1.0 45 Q8TB36,P02545,P07602,O95831,Q9NR77,Q00796,Q99720,Q6UWE0,Q9Y619 9 |
| Aplasia involving bones of the lower limbs 0.8644700031084769 1.6131649118283422 0.1067086843605462 1.0 1.0 3 P02545,Q8NCM8 2 |
| Vascular tortuosity 0.8644700031084702 1.6131649118283178 0.1067086843605515 1.0 1.0 3 P05067,P03886 2 |
| Xanthomatosis 0.8644344757563345 1.6130298117895885 0.1067380311347119 1.0 1.0 3 P34913 1 |
| Arthralgia 0.5464681619115961 1.6109124187369446 0.1071988128492302 1.0 1.0 33 P02545,Q9NZ08,Q15800,P28070,O15460,Q03252,P14174,Q15056,Q9UBC1,Q96HY6,Q9Y4P3,P35670,P06280 13 |
| Abnormal heart sound 0.7252561888066579 1.6072944767045447 0.1079897853525153 1.0 1.0 5 P10644,P10253 2 |
| Abnormal speech prosody 0.6897509534334276 1.6046333600290683 0.1085745153373205 1.0 1.0 7 Q69YN2,P04062,Q6Y7W6,P03886 4 |
| Bone pain 0.6291595635648332 1.6027778923230709 0.1089836993980308 1.0 1.0 22 P10644,P35670,P07602,Q14108 4 |
| Large placenta 0.8616563125217567 1.6024628658278748 0.1090532927719953 1.0 1.0 3 O75844 1 |
| Dysesthesia 0.690426587694412 1.599636479712575 0.1096792508018635 1.0 1.0 6 Q9NR77 1 |
| Pyridoxine responsive sideroblastic anemia 0.8603687674570566 1.597564007470053 0.1101400420193927 1.0 1.0 3 P38398 1 |
| Duodenal stenosis 0.8603687674570566 1.597564007470053 0.1101400420193927 1.0 1.0 3 P38398 1 |
| Clubbing of toes 0.8603687674570566 1.597564007470053 0.1101400420193927 1.0 1.0 3 P38398 1 |
| Hypoplasia of the odontoid process 0.6897310934500394 1.596458253198541 0.1103865192037667 1.0 1.0 6 P16278,O95831 2 |
| Abnormal sharpey fiber morphology 0.6881961802860127 1.5894413494816118 0.1119607855023061 1.0 1.0 6 P35670,P02545 2 |
| Cupped ear 0.6727452544237549 1.5853720170287413 0.1128818351632625 1.0 1.0 12 Q15392 1 |
| Ventricular hypertrophy 0.4936140569221031 1.5817635181797112 0.1137035662213739 1.0 1.0 38 P02545,O75844,P10253,P23786,P06280,P11047,P03886,O43772 8 |
| Decreased calvarial ossification 0.7620039308469776 1.5777812580970083 0.1146158709199305 1.0 1.0 4 P02545,O75844 2 |
| Arteriovenous malformation 0.6852199413098228 1.5758246893746537 0.1150662108247249 1.0 1.0 6 P38398 1 |
| Overtubulated long bones 0.8536509862529345 1.5719886119956974 0.1159531922917795 1.0 1.0 3 O75844 1 |
| Abnormal heart rate variability 0.7604449211451987 1.5713614550902126 0.1160987138472535 1.0 1.0 4 P07602 1 |
| Bifid tongue 0.7602322527206109 1.5704855468081538 0.116302194261542 1.0 1.0 4 Q8NCM8 1 |
| Psoriasiform dermatitis 0.852957296637286 1.5693462265647713 0.1165672865083951 1.0 1.0 3 Q15800 1 |
| Mucosal telangiectasiae 0.6723134338822989 1.5680825030801555 0.1168618793349542 1.0 1.0 11 Q8IZA0,P06280,P10619 3 |
| Abnormality of lysosomal metabolism 0.7157076205287356 1.5656887333083185 0.117421505185939 1.0 1.0 5 Q9NZJ7,P07602,Q13510,Q01968 4 |
| Respiratory arrest 0.6805594342227368 1.5621124388051724 0.1182615030799163 1.0 1.0 7 P23786,O43772 2 |
| Congenital hypothyroidism 0.7577722806276513 1.560350897871837 0.1186769815962476 1.0 1.0 4 P10644 1 |
| Clumsiness 0.615474959043066 1.5596433096970788 0.1188441957662269 1.0 1.0 23 O75503,P07602,Q9NR77,Q05086,O00165,O14773,P35670,O00754,Q96RR1 9 |
| Facial hypotonia 0.6731499654872308 1.5586367306657478 0.1190823843358832 1.0 1.0 10 O00754,Q13555,Q8N3U4,P10253 4 |
| Stroke like episode 0.681290465137571 1.5578256002397153 0.1192745956510126 1.0 1.0 6 O76024,P03886 2 |
| Deposits immunoreactive to beta amyloid protein 0.8491731379736231 1.5549272632452666 0.1199633934432244 1.0 1.0 3 P05067 1 |
| Arthrogryposis multiplex congenita 0.4577792255012429 1.5525766269340595 0.1205243131447317 1.0 1.0 41 P02545,Q8NCH0,Q15149,O75844,P04062,Q15392,Q53EZ4,Q99567,Q9UPT5,Q9H267,Q8TD16,P06753,Q969X5,Q8NF91 14 |
| Septo optic dysplasia 0.7534661332065293 1.5425979505557756 0.1229283556104265 1.0 1.0 4 Q8N3U4,Q9Y6N7 2 |
| Thin skin 0.6056296365380066 1.5392111245721352 0.1237527626442731 1.0 1.0 24 P02545,Q13126,O75844,P10644,Q96PU5 5 |
| Mottled pigmentation 0.8447269395339356 1.5379765764084157 0.124054342106751 1.0 1.0 3 O75844 1 |
| Aplasia hypoplasia involving the sinuses 0.7087590932226366 1.535343584009265 0.1246994536339678 1.0 1.0 5 P10644 1 |
| Aplasia hypoplasia of the uvula 0.708551497381031 1.5344361387458163 0.1249223927025702 1.0 1.0 5 P38398 1 |
| Abnormal visual fixation 0.6744693256051948 1.5338649846615742 0.1250628718015265 1.0 1.0 7 Q5KU26 1 |
| Eeg with focal spikes 0.6760576585135758 1.5338199584190366 0.1250739515366035 1.0 1.0 6 O75503 1 |
| Cardiovascular calcification 0.6701191675799519 1.5323743209886382 0.125430090491216 1.0 1.0 9 O75844,P04062 2 |
| Bicornuate uterus 0.67408867835463 1.5320975535280783 0.1254983633857591 1.0 1.0 7 Q69YQ0,P38398 2 |
| Abnormality of skull ossification 0.6582708199386095 1.5301724404210568 0.1259740511432654 1.0 1.0 13 Q32P28,P02545,O75844,P54802 4 |
| Preaxial hand polydactyly 0.6660613046126613 1.5245597434133302 0.1273689447733446 1.0 1.0 10 Q5H8A4,Q9UHX1,Q9BXW9,Q8NCM8 4 |
| Aspiration 0.664823619022989 1.5186013785860375 0.1288628639351277 1.0 1.0 10 P06865,P17900 2 |
| Abnormal csf protein level 0.6591831362211806 1.5185649543636557 0.1288720381354706 1.0 1.0 12 P07602,P03886 2 |
| Abnormal macrophage morphology 0.6721437900135288 1.515838443813096 0.1295602085045448 1.0 1.0 6 O15118,P16278 2 |
| Loss of speech 0.6299733851515521 1.5144095428291695 0.1299220004408765 1.0 1.0 19 P07602,O15118,P17900,P50897,O00754 5 |
| Osteolysis 0.5878081056912275 1.512541011669622 0.1303962876443514 1.0 1.0 26 P02545,P53634,O75844,P04062,Q14108 5 |
| Progeroid facial appearance 0.6697236581569124 1.5118142532468373 0.1305811223991559 1.0 1.0 7 O75844 1 |
| Acquired abnormal hair pattern 0.7021965773800829 1.5066346806592326 0.1319043228297005 1.0 1.0 5 O75844 1 |
| Young adult onset 0.6581257290060618 1.4989872198051355 0.133876947579224 1.0 1.0 11 P02545,P07602,O15118,Q14566 4 |
| Subcutaneous hemorrhage 0.4624939586081503 1.4989099927615406 0.1338969836640036 1.0 1.0 40 P21964,Q13126,P10644,Q8NCH0,P04062,P35579,Q6UN15,Q9NWM8,Q04656,P38435,P35670,Q9BXW9,O00192,Q14108 14 |
| Impaired mastication 0.6648971198222055 1.4976856697371583 0.1342149367573206 1.0 1.0 8 P06753,O15460,P11047,Q13509 4 |
| Hallucinations 0.4290486542226054 1.4972453168056956 0.1343294377769452 1.0 1.0 43 O75503,P07602,P50336,P05067,O76024,Q6Y7W6,P04062,P50897,O00754 9 |
| Undetectable electroretinogram 0.7417648341241637 1.4942832197152889 0.1351016091409949 1.0 1.0 4 P50897,O14773 2 |
| Nonprogressive 0.6988970784615834 1.4921832557726658 0.1356511106805324 1.0 1.0 5 Q10713 1 |
| Abnormality of circulating adrenocorticotropin level 0.6666081865916377 1.4903687892133042 0.1361272942949518 1.0 1.0 6 P10644 1 |
| Abnormality of the distal phalanges of the toes 0.6983515831235254 1.4897929837972588 0.1362786765191075 1.0 1.0 5 P02545,O75844 2 |
| Abnormal nerve conduction velocity 0.4503417569763014 1.4871719662677445 0.1369693981185802 1.0 1.0 41 Q8TB36,P02545,P07602,O95831,Q9NR77,Q00796,Q99720,Q6UWE0,Q9Y619 9 |
| Foam cells 0.6975352442391947 1.486215364969777 0.1372221646732376 1.0 1.0 5 O15118,P16278 2 |
| Abnormal exteroceptive sensation 0.4282575608229075 1.4854397089973723 0.1374273833302244 1.0 1.0 52 P07602,O95831,Q9NZ08,Q8NCH0,O15460,Q9NR77,P05067,P54802,P06280 9 |
| Congenital malformation of the left heart 0.7392705116119549 1.4839713545103168 0.1378165202084451 1.0 1.0 4 Q12768 1 |
| Abnormality of complement system 0.830305347035886 1.4829371153472894 0.1380911191927447 1.0 1.0 3 P02545 1 |
| Chorioretinal dysplasia 0.7390004251675433 1.4828545310077437 0.1381130641791834 1.0 1.0 4 P52732,O43505 2 |
| Bifid scrotum 0.6642629292247599 1.4795653167036715 0.1389892881811114 1.0 1.0 6 Q69YQ0,Q96EK5,P16435 3 |
| Orthostatic hypotension due to autonomic dysfunction 0.6582653349536481 1.4759284933516728 0.1399630894201893 1.0 1.0 9 P07602 1 |
| Abnormal muscle fiber morphology 0.4516229259189304 1.472597344733943 0.1408596412155194 1.0 1.0 69 P02545,O95831,Q9H2D1,P05067,Q9Y223,Q93100,Q70HW3,Q99720,O43676,P03886,P23786,P11047 12 |
| Abnormal c reactive protein level 0.7363973452901748 1.4720882165103808 0.1409970570924401 1.0 1.0 4 P14174 1 |
| Desquamation of skin soon after birth 0.8271229123989563 1.4707813699817631 0.1413502522784431 1.0 1.0 3 P04062 1 |
| Muscle hypertrophy of the lower extremities 0.6605878602265439 1.469272982105165 0.1417587619281675 1.0 1.0 7 P02545,Q9NR77,Q15149 3 |
| Short chin 0.654123738601007 1.4669903398096016 0.1423786832463001 1.0 1.0 10 Q08J23,O75844 2 |
| Abnormal circulating ceruloplasmin concentration 0.6930322244208186 1.4664691436639428 0.142520521456442 1.0 1.0 5 Q8N511,Q10567 2 |
| Cerebral inclusion bodies 0.6408028284451465 1.4594390566159503 0.1444443028672211 1.0 1.0 14 P05067,O15118,P04062,P61916 4 |
| Ankyloglossia 0.6553667626219015 1.4527504514934932 0.1462930535782132 1.0 1.0 8 O75844 1 |
| Abnormality of the shoulder girdle musculature 0.5324433759066769 1.4507604291250402 0.1468465819772657 1.0 1.0 32 P50402,P02545,P07602,Q8WXH0,Q96RR1,O14979,Q9Y223,Q8TD16,P06753,P11047,Q9Y487 11 |
| Aplasia hypoplasia of the breasts 0.6563631955791549 1.4495618147125868 0.147180750888024 1.0 1.0 7 Q9BZH6,P02545,Q9Y619 3 |
| Prominent nasolabial fold 0.6562455261286139 1.4490124633399326 0.1473341020266199 1.0 1.0 7 Q9Y487 1 |
| Abnormality of the nasolabial region 0.6562455261286139 1.4490124633399326 0.1473341020266199 1.0 1.0 7 Q9Y487 1 |
| Abnormal urine carbohydrate level 0.6471531989139585 1.44532602796657 0.1483663302836362 1.0 1.0 11 P10253,P16278,P04066 3 |
| Long hallux 0.7277983213087484 1.4364937125542914 0.1508619041759729 1.0 1.0 4 P10644 1 |
| Tissue ischemia 0.6102070857944623 1.433204300003746 0.1517994611807063 1.0 1.0 20 P02545,Q9NZ08,O15460,Q15056,P05067,O75844,P06280 7 |
| Low frustration tolerance 0.6490804398297992 1.432049895710404 0.1521295422311139 1.0 1.0 9 Q9UHX1,P04062 2 |
| Sleep wake cycle disturbance 0.6844598536843189 1.4288270902930518 0.1530539372277344 1.0 1.0 5 Q8N3U4 1 |
| Short palm 0.5807570885140741 1.428669535850711 0.1530992377626889 1.0 1.0 25 P02545,Q9UHX1,P10644,Q13555,Q9Y619 5 |
| Talipes calcaneovalgus 0.6526610223065492 1.4260152967487063 0.1538639266494854 1.0 1.0 6 Q69YQ0,Q9NR77,Q9H267 3 |
| Acanthosis nigricans 0.6454552006296205 1.4250527626598142 0.154141949841533 1.0 1.0 10 P02545,P31751,P28070 3 |
| Hypoplastic aortic arch 0.8129334027980375 1.4165515439907057 0.1566140841288608 1.0 1.0 3 Q9UHX1 1 |
| Capillary hemangioma 0.6488794052403182 1.4145881158339868 0.157189295238648 1.0 1.0 7 Q9UHX1 1 |
| Retinal coloboma 0.6447669217694736 1.41140368117346 0.1581256181572294 1.0 1.0 9 Q9UHX1 1 |
| Congenital malformation of the right heart 0.648189977820837 1.4113627819125718 0.158137671226346 1.0 1.0 7 O15460,P40855,Q12768 3 |
| Postaxial foot polydactyly 0.6471204179568464 1.4063579687368717 0.1596178545999902 1.0 1.0 7 Q10713 1 |
| Abnormality of the 5th toe 0.6471204179568464 1.4063579687368717 0.1596178545999902 1.0 1.0 7 Q10713 1 |
| Patchy alopecia 0.8102354052193999 1.4062362106755248 0.1596539949101667 1.0 1.0 3 O75844 1 |
| Bowing of the legs 0.4198834608944847 1.404564134222676 0.1601509280336173 1.0 1.0 52 Q13126,O75718,Q9NR77,Q15056,Q32P28,P34059,Q7LGA3,Q13509,Q04656,P16278,Q9NX62,Q9Y619,Q8NCM8,O00754 14 |
| Hepatocellular adenoma 0.8093232379623387 1.402748514054187 0.1606918449113461 1.0 1.0 3 P10644 1 |
| Personality changes 0.6183327219861715 1.4021586712556486 0.1608678700256627 1.0 1.0 17 P35670,P03886 2 |
| Middle age onset 0.6374954055330229 1.397948257371763 0.1621286057486308 1.0 1.0 11 P07602 1 |
| Increased bone mineral density 0.5680988721119634 1.3907702451366029 0.1642951086706892 1.0 1.0 26 P02545,Q13126,P04062,P54802,Q15392,Q14108 6 |
| Insulin resistant diabetes mellitus 0.6403920736453561 1.3904398294653433 0.1643953588583802 1.0 1.0 9 P02545,O75844 2 |
| Abnormality of the odontoid process 0.643598083771352 1.3898664783152015 0.1645694265265216 1.0 1.0 7 P16278,O95831 2 |
| Absent hypoplastic paranasal sinuses 0.8053725210389258 1.387642075988011 0.1652460623215241 1.0 1.0 3 P10644 1 |
| Nemaline bodies 0.7154895114498128 1.385478318592336 0.1659062576618646 1.0 1.0 4 P06753,O43676 2 |
| Aplastic clavicle 0.8043664806883726 1.3837951203736023 0.1664211976147063 1.0 1.0 3 Q9Y619 1 |
| Ureteral duplication 0.6386945920351854 1.3822994055342157 0.1668797884525292 1.0 1.0 9 O75844,P23786 2 |
| Basal ganglia calcification 0.6418788670440733 1.3818120732831642 0.1670294109971852 1.0 1.0 7 P00403,P03886,Q9Y3Z3 3 |
| Parkinsonism 0.537650525379018 1.3770134940427017 0.1685080758914523 1.0 1.0 30 P04062,P07602,P05067,Q99720 4 |
| Pleural effusion 0.6355197548658076 1.3768614547152147 0.1685550863201785 1.0 1.0 10 Q13043,P52732,P14174,Q9NZ08 4 |
| Ventricular arrhythmia 0.4681615821251013 1.37579044993591 0.1688865189827455 1.0 1.0 38 P50402,P02545,P13473,O75306,Q8WXH0,P50336,Q03001,Q8NF91,Q8NFF5,P04899,P42892,P00403,P03886,P23786,P10253,Q96RR1,O43772 17 |
| Progressive neurologic deterioration 0.6043876104879514 1.3741573117678505 0.169392850111119 1.0 1.0 19 P07602,P16278,P04062,P54802 4 |
| Increased adipose tissue 0.7126969258729536 1.373895744549963 0.1694740509434655 1.0 1.0 4 P02545,P31751 2 |
| Temperature instability 0.6379452441232225 1.3703008592335857 0.1705930049625441 1.0 1.0 8 P07602 1 |
| Avascular necrosis 0.5977825523690508 1.363808439849193 0.1726278633207705 1.0 1.0 20 P02545,Q9NZ08,O75844,P04062,O00754,Q9Y619,Q14108 7 |
| Monotonic speech 0.6391939563449913 1.363656895785094 0.1726755762153673 1.0 1.0 6 Q69YN2,P04062,Q6Y7W6 3 |
| Absence of pubertal development 0.6693285739062251 1.3622431488475144 0.1731211626291227 1.0 1.0 5 O75844 1 |
| Supranuclear gaze palsy 0.5965492412382354 1.356904563720046 0.1748115365848079 1.0 1.0 20 P07602,P04062,O15118,Q99720 4 |
| Ascending tubular aorta aneurysm 0.6678473210965891 1.3557168609837835 0.1751892725962063 1.0 1.0 5 O75844 1 |
| Cranial asymmetry 0.6373103180334783 1.354919652558119 0.1754431575021966 1.0 1.0 6 Q69YQ0,P40855 2 |
| Abnormal circulating non proteinogenic amino acid concentration 0.636069987872383 1.3545745661767536 0.1755531413539519 1.0 1.0 7 P05067,P03886 2 |
| Nasogastric tube feeding in infancy 0.6324039054423849 1.3521030526624631 0.176342350918393 1.0 1.0 9 P07602 1 |
| Femoral bowing 0.6320936760184831 1.3506127733670077 0.1768195069020819 1.0 1.0 9 Q8NCM8,Q32P28 2 |
| Exercise induced muscle cramps 0.6349663907501781 1.3440426300294337 0.1789346020424371 1.0 1.0 6 P23786,P53985 2 |
| Bruising susceptibility 0.5321099361321912 1.3396998821312014 0.180342935903091 1.0 1.0 30 Q13126,Q8NCH0,P04062,Q04656,P38435,P35670,P10644,Q14108 8 |
| Type 1 muscle fiber atrophy 0.6292377126104745 1.3289623785524731 0.1838603821715074 1.0 1.0 8 P50402,P02545,Q8WXH0,P61978,P06753 5 |
| Inappropriate behavior 0.6036565297214678 1.3237365085594834 0.1855905689685828 1.0 1.0 17 P07602,P17900 2 |
| Eruption failure 0.6294158061029249 1.3182653722148336 0.1874148285035666 1.0 1.0 6 O75844 1 |
| Fluctuations in consciousness 0.6279862220501051 1.3166152132941775 0.187967636725802 1.0 1.0 7 P03886 1 |
| Osteopenia 0.4408708160882488 1.303633211075153 0.192358671478223 1.0 1.0 74 P02545,Q13126,P07602,O75718,Q15056,O75844,P61978,Q32P28,P04062,Q9BZH6,O15228,Q9NWM8,Q04656,Q9Y4P3,O00754,P10644,Q14108,Q9Y487 18 |
| Abnormality of the septum pellucidum 0.4191005509415428 1.3022534189016255 0.1928297695202754 1.0 1.0 42 Q9UBB6,Q69YQ0,O95202,Q08J23,P51571,Q9BZH6,Q15392,Q8N3U4,Q96C86,Q9Y6N7,O43505 11 |
| Abnormal morphology of the conjunctival vasculature 0.6235966924111453 1.302143339997588 0.1928673898939263 1.0 1.0 8 P04066,P10619 2 |
| Osteomalacia 0.6258893319748429 1.3018748983300206 0.192959154660135 1.0 1.0 6 P35670,Q04656 2 |
| Prematurely aged appearance 0.4394184823732537 1.300133729257857 0.1935551391659318 1.0 1.0 40 Q13126,O75844,Q9Y487 3 |
| Nuclear cataract 0.655172993273668 1.2998295198140726 0.1936594055450258 1.0 1.0 5 P08670,O76024 2 |
| Lewy bodies 0.6235595641421731 1.2958045903524444 0.1950428162021125 1.0 1.0 7 Q709C8,P04062,Q6Y7W6 3 |
| Bacterial endocarditis 0.9664387818520812 1.2952227944299974 0.1952433836384153 1.0 1.0 2 P10644 1 |
| Type ii transferrin isoform profile 0.6540300392138128 1.294786402935454 0.1953939238087572 1.0 1.0 5 Q9Y2V7,O75787,Q15904 3 |
| Shoulder girdle muscle weakness 0.6112508228118476 1.2933812050474414 0.195879247306574 1.0 1.0 13 P07602,Q9Y223,Q8TD16,P06753,Q96RR1 5 |
| Increased susceptibility to fractures 0.4067703005914188 1.2913258469438988 0.1965907116620953 1.0 1.0 51 Q13126,P04062,P10644,P35670,Q14108 5 |
| Hypoplastic heart 0.779458946462686 1.2885762892358208 0.1975454309155058 1.0 1.0 3 Q12768 1 |
| Abnormality of the autonomic nervous system 0.4122558368644347 1.2877279747849486 0.1978406719507333 1.0 1.0 55 P21964,P07602,P50336,Q10713,O76024,Q6Y7W6,P04062,P38398,Q8N3U4,Q9BXW9,Q13509,Q04656,P42892,P06280,Q96RR1 15 |
| Airway obstruction 0.5966036699251627 1.285940468979804 0.198463838675869 1.0 1.0 17 P21964,P02545,P09601,Q9Y223,O75844,Q96HY6,P06280 7 |
| Chronic fatigue 0.6184830394770899 1.28513739728431 0.1987442752227668 1.0 1.0 9 P07602,Q13423 2 |
| Optic nerve hypoplasia 0.5872553924326694 1.2796021625203422 0.2006850889333937 1.0 1.0 19 P30153,P61978,Q9BZH6,Q9UHX1,Q8N3U4,Q13509,Q9Y6N7 7 |
| Abnormal periventricular white matter morphology 0.4463269571482444 1.275098385766976 0.2022744206805162 1.0 1.0 39 O75503,P07602,Q9UHX1,P17900 4 |
| Abnormal sweat gland morphology 0.9599129894344288 1.2712261420980444 0.2036482089150779 1.0 1.0 2 O75844 1 |
| Severe failure to thrive 0.9599129894344288 1.2712261420980444 0.2036482089150779 1.0 1.0 2 O75844 1 |
| Aplasia hypoplasia of the colon 0.9599129894344288 1.2712261420980444 0.2036482089150779 1.0 1.0 2 O75844 1 |
| Prominent umbilicus 0.9599129894344288 1.2712261420980444 0.2036482089150779 1.0 1.0 2 O75844 1 |
| Epidermal hyperkeratosis 0.9599129894344288 1.2712261420980444 0.2036482089150779 1.0 1.0 2 O75844 1 |
| Stiff skin 0.9599129894344288 1.2712261420980444 0.2036482089150779 1.0 1.0 2 O75844 1 |
| Abnormal duodenum morphology 0.6093629013962738 1.2707254532437051 0.2038263371610007 1.0 1.0 12 Q8NCH0,P38398,Q8N3U4 3 |
| Abnormal pulmonary interstitial morphology 0.5289196861926674 1.2700071774090202 0.2040820735130883 1.0 1.0 29 Q8IZA0,P09601,P04062,Q14108 4 |
| Abnormal retinal artery morphology 0.5650034856649339 1.2636192095416758 0.2063667353991125 1.0 1.0 23 P21964,P07602,P10619,Q15056,P06865,P17900,Q9Y4P3,P16278,P03886 9 |
| Chorioretinal coloboma 0.6168444262699158 1.2597948466961342 0.2077433792882359 1.0 1.0 6 Q10713 1 |
| Achilles tendon contracture 0.6066855028140102 1.257323689282443 0.2086364493092825 1.0 1.0 12 P50402,P02545,Q8WXH0,Q08J23,Q15149,Q8TD16 6 |
| Abnormality of the larynx 0.3943358637699529 1.2565246679602808 0.2089258080104079 1.0 1.0 45 P02545,P07602,Q9UHX1,Q15165,Q8NCM8 5 |
| Childhood onset 0.4428425057483655 1.2456644174023008 0.2128876221389255 1.0 1.0 39 P22830,Q8TB36,P50402,Q5JRX3,Q8WXH0,Q9NR77,Q8N0X7,O00165,O14920,Q15904,Q14566 11 |
| Fibrous tissue neoplasm 0.5765632609011141 1.2446938448774632 0.2132443093591121 1.0 1.0 20 Q15392,Q13126 2 |
| Recurrent acute respiratory tract infection 0.7678940113135669 1.244417915439461 0.2133457926490014 1.0 1.0 3 Q03519 1 |
| Corneal erosion 0.6423994005492336 1.243449034953697 0.2137024104739402 1.0 1.0 5 P51648,P01889 2 |
| Deep palmar crease 0.6052310943465042 1.23887443113746 0.2153920040158758 1.0 1.0 11 Q69YQ0,Q9Y487 2 |
| Breast hypoplasia 0.6798502624217726 1.2375731235769434 0.2158743851215523 1.0 1.0 4 Q9Y619 1 |
| Wormian bones 0.5832480260324696 1.2347663953111352 0.2169174573981003 1.0 1.0 18 P02545,O95831,O75718,O75844,Q32P28,Q9Y487 6 |
| Shawl scrotum 0.6396789376183242 1.2314380530378957 0.2181590720909627 1.0 1.0 5 Q9Y619 1 |
| Left ventricular systolic dysfunction 0.6095710178405749 1.2299514169442152 0.2187152983324984 1.0 1.0 7 O75844 1 |
| Thickened cortex of long bones 0.763784536002369 1.2287415452030146 0.2191687242628082 1.0 1.0 3 O00754 1 |
| Abnormality of head blood vessel 0.535868919132986 1.2285535980024798 0.2192392221186432 1.0 1.0 27 P21964,P07602,P10619,Q15056,P06865,P17900,Q9Y4P3,O00192,P16278,P03886 10 |
| Abnormal endocardium morphology 0.5922483681758377 1.226049666957949 0.2201799851907444 1.0 1.0 15 Q9NZ08,Q15056,P04062,P10644,P06280 5 |
| Short femur 0.6366291427638735 1.217972818645659 0.2232343021475062 1.0 1.0 5 Q9UHX1 1 |
| Entropion 0.6044285247094409 1.2173728587914403 0.2234623847435861 1.0 1.0 9 P02545,O75844 2 |
| Enlarged ovaries 0.6364833016882898 1.2173289155790197 0.2234790968807156 1.0 1.0 5 P10644 1 |
| Esophageal varix 0.6076834982353843 1.2171274386405675 0.2235557324527683 1.0 1.0 6 P35670,P04062 2 |
| Recurrent hand flapping 0.7583893700925894 1.2081755089790818 0.2269797601029715 1.0 1.0 3 Q05086 1 |
| Heterogeneous 0.418821756431812 1.2064295106060134 0.2276519230790168 1.0 1.0 41 Q8TB36,P02545,P21964,O75330,P53634,Q9NR77,P05067,O75844,P38398,P11717,Q15051,P61916,Q9Y619,P03886 14 |
| Axonal degeneration 0.6045689288973807 1.2063779643614088 0.2276717885483821 1.0 1.0 7 Q8TB36,Q6UWE0,Q9BQT8,Q6DKK2 4 |
| Abnormal carotid artery morphology 0.5815144759127722 1.2048882782131054 0.2282464343281307 1.0 1.0 17 P02545,Q15056,O75844,P38398,Q04656,Q9Y4P3,Q9BXW9,P42224 8 |
| Limited wrist extension 0.9412678682411436 1.2028737323456036 0.2290251866557004 1.0 1.0 2 Q9Y223 1 |
| Mitochondrial respiratory chain defects 0.633104474711377 1.2024114495502616 0.2292041553441177 1.0 1.0 5 P03886 1 |
| Peripheral demyelination 0.5874955453017473 1.201227465739467 0.2296629780211909 1.0 1.0 15 P07602,Q9NR77,P03886 3 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.6030701645371821 1.1993128601594722 0.2304063164268934 1.0 1.0 7 P50402,P02545,Q15149,Q8WXH0 4 |
| Abnormal renal vascular morphology 0.6704151744446485 1.1984381262528303 0.2307464972029533 1.0 1.0 4 P01130,P42224 2 |
| Thoracic kyphosis 0.5868659448401623 1.1979381023247873 0.2309411149234317 1.0 1.0 15 O00754,Q9UHX1,P04062,O95831 4 |
| Cirrhosis 0.4173680819028854 1.193361264684017 0.2327279183490165 1.0 1.0 41 P22830,Q10713,P04062,Q10567,P11717,P35670,Q9UDY2,Q14108 8 |
| Brittle hair 0.5859265170323642 1.1930295611897943 0.2328577959508719 1.0 1.0 15 Q9Y487 1 |
| Fetal akinesia sequence 0.6021255981665441 1.1912250495018863 0.2335652482811681 1.0 1.0 6 P06753,P04062,Q99567 3 |
| Lambdoidal craniosynostosis 0.7531861983214176 1.1883597021418706 0.2346917256897349 1.0 1.0 3 Q9ULC3,P61978 2 |
| Retinal detachment 0.5919704473564418 1.1835769165951069 0.2365805824296802 1.0 1.0 12 P52732,Q8NCH0,P04439,O43505 4 |
| Rheumatoid arthritis 0.935052827843378 1.180171214969626 0.2379321251032911 1.0 1.0 2 P14174 1 |
| Hypertriglyceridemia 0.5454728531387121 1.179050141697727 0.2383782102187066 1.0 1.0 24 P22830,P50402,P02545,Q13045,Q8WXH0,P28070,O95470,P31751,Q9Y285 9 |
| Polar cataract 0.9341205717837168 1.1767698299560094 0.2392873875920882 1.0 1.0 2 P08670 1 |
| Ketotic hypoglycemia 0.9338098197638288 1.1756362746661466 0.2397402535144333 1.0 1.0 2 Q13423 1 |
| Shuffling gait 0.5911832173402374 1.1693535797812995 0.2422612042256391 1.0 1.0 11 O75844,P04062 2 |
| Breast aplasia 0.9319453076444958 1.1688374966063464 0.242469109883114 1.0 1.0 2 P02545 1 |
| Limb girdle muscle weakness 0.5380755421841305 1.1675073801401248 0.2430055296690805 1.0 1.0 25 P02545,Q13126,P07602,Q9Y223,Q8TD16,P06753,Q96RR1 7 |
| Decreased circulating copper concentration 0.6621098550323343 1.1640225104837192 0.2444148894107682 1.0 1.0 4 Q10567,Q14746 2 |
| Scaling skin 0.594439831006245 1.1631873798818833 0.2447534857118274 1.0 1.0 8 P02545,O75844 2 |
| Absent facial hair 0.5911860421526438 1.1606525524543063 0.2457832246334956 1.0 1.0 10 O75844 1 |
| Toe walking 0.5418016456774782 1.1568676512409386 0.2473264369321413 1.0 1.0 24 P50402,P02545,P07602,O95831,Q99720,Q8TD16,P06753,Q6UWE0 8 |
| Abnormal circulating proline concentration 0.6596569158114071 1.1538659628355052 0.2485551255985973 1.0 1.0 4 Q9P0J1 1 |
| Visual hallucinations 0.6218371136096834 1.152681346723681 0.2490412004610793 1.0 1.0 5 P04062,Q6Y7W6 2 |
| Abnormal autonomic nervous system physiology 0.4973081620117822 1.1514498457546942 0.2495472173790285 1.0 1.0 31 P07602,O76024,Q6Y7W6,P04062,P42892,Q13509,P50336,P06280 8 |
| Aplasia hypoplasia of the ulna 0.5892460258070555 1.151165879744073 0.2496639993033764 1.0 1.0 10 P10644,P38398,Q8NCM8 3 |
| Abnormality of the posterior pituitary 0.5888826815903399 1.1493890550626746 0.2503955911173658 1.0 1.0 10 Q9UHX1,O76024,Q9Y6N7 3 |
| Ectrodactyly 0.570769515736565 1.1470553338204907 0.2513587525066838 1.0 1.0 17 Q8TB36,O95202,Q5H8A4,Q9NR77,Q99720,Q9UBC2 6 |
| Dyspareunia 0.6576492537313384 1.145556258376144 0.2519788049213773 1.0 1.0 4 Q9BZH6,P01889,Q8WWQ0 3 |
| Multifocal cerebral white matter abnormalities 0.6201381653257196 1.1451862918261724 0.2521319956237957 1.0 1.0 5 Q9Y619 1 |
| Hypoketotic hypoglycemia 0.5903576519849116 1.1437078923943138 0.252744799178298 1.0 1.0 8 O43772 1 |
| Absent septum pellucidum 0.4809437929448787 1.1402279070998151 0.2541913638113815 1.0 1.0 33 Q9UBB6,O95202,Q08J23,P51571,Q9BZH6,Q15392,Q8N3U4,Q96C86,Q9Y6N7,O43505 10 |
| Absent hair 0.5852833421076251 1.1401337623323369 0.2542305779027802 1.0 1.0 11 O75844 1 |
| Poor motor coordination 0.5810525180883697 1.1400178673144516 0.2542788573998318 1.0 1.0 13 P35670,O75503 2 |
| Onion bulb formation 0.5893869455901845 1.1390756714703374 0.2546715936997219 1.0 1.0 8 Q8TB36,P02545,Q9NR77,P07196,O95140 5 |
| Mild short stature 0.6556932987784496 1.1374634932711412 0.255344577541871 1.0 1.0 4 P10644 1 |
| Abnormal circulating acetylcarnitine concentration 0.5900633611374042 1.1349901793009889 0.2563794331930005 1.0 1.0 6 O43772 1 |
| Abnormality of the pubic bone 0.5872706742783653 1.1345247616650245 0.2565744930627702 1.0 1.0 9 Q5H8A4,Q8IZA0,Q04656 3 |
| Pulmonary infiltrates 0.5892682486925525 1.134229154994674 0.2566984374358658 1.0 1.0 7 Q13510,P04062,Q9NZ08 3 |
| Ventricular septal hypertrophy 0.738940038765851 1.134218252750927 0.2567030094121492 1.0 1.0 3 P06280 1 |
| Impaired temperature sensation 0.6174194777307358 1.1331952853222491 0.2571322536462261 1.0 1.0 5 Q9NR77,O95140 2 |
| Unsteady gait 0.386270919855856 1.133044537874976 0.2571955504087289 1.0 1.0 48 O75503,Q69YN2,Q5JRX3,Q10713,O95831,Q9NR77,Q9UBB4,P18887,Q96F07,Q8N3U4,P07196,Q04656,Q96C86,P49366 14 |
| Sensorimotor neuropathy 0.4798026978376812 1.131920936213096 0.257667675824496 1.0 1.0 33 P07602,Q9Y2R0,Q9NR77,Q5KU26,P03886 5 |
| Aortic regurgitation 0.5374964231442702 1.130837390822658 0.2581235391171488 1.0 1.0 24 P02545,O75844,Q9UHX1,Q96PU5,O00754 5 |
| Abnormality of corneal stroma 0.5737489827463258 1.129360816345909 0.258745655273529 1.0 1.0 15 P34913,P16278,P04062,P10619 4 |
| Hypertrophic nerve changes 0.9204474829086384 1.1270146903544918 0.2597362699532566 1.0 1.0 2 Q9NR77 1 |
| Abnormality of the calf 0.4012492969041517 1.1241746977876514 0.2609389211666451 1.0 1.0 59 Q13126,O95831,O75718,Q9NR77,Q15056,Q32P28,P34059,Q7LGA3,Q13509,Q04656,P16278,Q9NX62,Q9Y619,Q8NCM8,O00754 15 |
| Gangrene 0.5814113505908897 1.1209543961373003 0.2623072746965671 1.0 1.0 11 P10644,P52732,O15460 3 |
| Arterial stenosis 0.5710823511925303 1.11541184350329 0.2646739765950605 1.0 1.0 15 P02545,P34913,Q15056,P01130,P21359,Q04656,Q9Y4P3,P42224 8 |
| Fair hair 0.6496662523788175 1.1125467223915184 0.2659031530920224 1.0 1.0 4 P10644 1 |
| Lack of skin elasticity 0.5732228067669769 1.112534969482576 0.2659082033324922 1.0 1.0 14 P10644,O75844 2 |
| Abnormal femoral neck morphology 0.4271334230752277 1.1124023424723448 0.2659651979108248 1.0 1.0 39 P02545,O95831,O75718,O75844,P04066,P34059,O00754,Q9Y619,P16278,Q9Y487 10 |
| Abnormal muscle fiber protein expression 0.584604565189097 1.1095419705329044 0.2671964490344403 1.0 1.0 6 P50402,P02545,Q8WXH0 3 |
| Ventricular escape rhythm 0.584604565189097 1.1095419705329044 0.2671964490344403 1.0 1.0 6 P50402,P02545,Q8WXH0 3 |
| Cutaneous photosensitivity 0.5283666962215503 1.1077100484123634 0.2679870583222978 1.0 1.0 25 P22830,Q08J23,Q14108 3 |
| Preaxial polydactyly 0.572269384471007 1.1076175225183753 0.2680270326586484 1.0 1.0 14 Q5H8A4,Q9UHX1,Q9BXW9,Q8NCM8 4 |
| Pelvic kidney 0.5816289316789874 1.1072748978168487 0.2681750938698917 1.0 1.0 9 Q9UHX1,Q9BXW9,Q15056 3 |
| Respiratory distress 0.3909181814816264 1.107156363865803 0.2682263299947633 1.0 1.0 53 P07602,P11047,P04062,P51571,Q9UHX1,P10253,P23786,Q9Y619,P03886 9 |
| Ulnar deviation of the wrist 0.611288636891779 1.106169538126317 0.2686531450019975 1.0 1.0 5 P16278 1 |
| Delayed fine motor development 0.581327728250887 1.1058201574926363 0.2688043684174115 1.0 1.0 9 Q5KU26 1 |
| Hypopigmented macule 0.6111471803688903 1.1055462546669477 0.268922963421859 1.0 1.0 5 Q9NP58,Q15149 2 |
| Akinesia 0.5779602238403851 1.1038595075213364 0.2696540863668388 1.0 1.0 11 Q709C8,P04062,Q99567,Q6Y7W6 4 |
| Adrenal hypoplasia 0.5773931749433041 1.101050750584726 0.2708745698483148 1.0 1.0 11 P02545,O75844,Q9Y6N7,Q12768 4 |
| Abnormality of subcutaneous fat tissue 0.5709525004568273 1.1008253839927071 0.2709726617398442 1.0 1.0 14 O75844,Q9Y487 2 |
| Multifactorial inheritance 0.5732107250036031 1.100128928092156 0.2712759513449803 1.0 1.0 13 P10321,Q8NCM8,P42892 3 |
| Abnormality of the musculature of the upper arm 0.5809472131276213 1.0988035921183812 0.271853745057073 1.0 1.0 8 P50402,P02545,Q8WXH0,O14979 4 |
| Proximal upper limb amyotrophy 0.5809472131276213 1.0988035921183812 0.271853745057073 1.0 1.0 8 P50402,P02545,Q8WXH0,O14979 4 |
| Narrow vertebral interpedicular distance 0.7292550631057886 1.0975289104156 0.2724102499066698 1.0 1.0 3 P10644 1 |
| Vertebral arch anomaly 0.7292550631057886 1.0975289104156 0.2724102499066698 1.0 1.0 3 P10644 1 |
| Thoracic kyphoscoliosis 0.5816479750092745 1.095761387165435 0.2731832103964895 1.0 1.0 6 O75844 1 |
| Elevated circulating long chain fatty acid concentration 0.9114356743318764 1.0943713159004274 0.2737921589583512 1.0 1.0 2 P23786 1 |
| Stillbirth 0.5760131916486733 1.0942154631036496 0.2738604911913422 1.0 1.0 11 O75844,P04062 2 |
| Gait ataxia 0.4161279077563345 1.0923326487851537 0.2746869148201765 1.0 1.0 72 P07602,Q10713,Q9P0J1,Q5H8A4,Q9NR77,Q8IV08,O15118,Q14108,P03886 9 |
| Abnormal oral mucosa morphology 0.3936824059979518 1.0919565398664584 0.2748522041611545 1.0 1.0 56 P53634,P04062,Q15392,P16278,P10644,O00754,Q14108 7 |
| Delayed puberty 0.3936576599762384 1.0917135059940648 0.2749590468564551 1.0 1.0 56 P02545,Q15800,O75844,P04062,Q14108 5 |
| Abnormality of the phalanges of the toes 0.5664752492020887 1.0913102592610315 0.2751363849722494 1.0 1.0 15 P02545,P38398,O75844,Q7LGA3 4 |
| Cortical cataract 0.7270749145166211 1.0892854306481792 0.2760280355479656 1.0 1.0 3 Q99797,Q01968 2 |
| Vocal cord paresis 0.643456127676282 1.0869095138561788 0.2770768013191325 1.0 1.0 4 Q8TB36 1 |
| Hypotension 0.5350043658812442 1.0856366916912052 0.2776397598251261 1.0 1.0 23 P07602,Q6Y7W6,P04062,Q13423,P49366,O43772 6 |
| Ragged red muscle fibers 0.5624048436502644 1.0850726509484123 0.277889479192368 1.0 1.0 16 Q70HW3,Q9H2D1,P03886 3 |
| Sunken cheeks 0.7241638619655859 1.0782879982501952 0.2809052513912895 1.0 1.0 3 Q07954 1 |
| Abnormal thoracic spine morphology 0.5120094501248583 1.0759547233029378 0.2819475060506407 1.0 1.0 27 P02545,O95831,O75844,P04062,P51648,Q9UHX1,O00754 7 |
| Upper limb postural tremor 0.7233424989618792 1.0751871144004308 0.282290963287799 1.0 1.0 3 Q9NR77 1 |
| Aplasia hypoplasia of toe 0.4313387498698577 1.0728383624945863 0.2833436451734774 1.0 1.0 38 P02545,Q5H8A4,Q9UHX1,Q7LGA3,P10644,Q9NX62 6 |
| Shoulder girdle muscle atrophy 0.7226854423450437 1.0727072097615171 0.2834025045098163 1.0 1.0 3 Q9Y223 1 |
| Abnormal femoral neck head morphology 0.37854870997689 1.071001706949538 0.2841686621353867 1.0 1.0 47 P02545,Q6NUQ1,O95831,O75718,O75844,P04066,P34059,Q7LGA3,Q04656,O00754,Q9Y619,P16278,Q9Y487 13 |
| Pulmonary fibrosis 0.5492395374998383 1.0686435398481249 0.2852303215010616 1.0 1.0 19 P09601,Q8IZA0,P04062 3 |
| Abnormality of the musculature of the thigh 0.5731734699996981 1.0664454537711805 0.286222323720696 1.0 1.0 9 P50402,P02545,Q8WXH0,P07196,O14979 5 |
| Persistence of primary teeth 0.5744996859311862 1.0624568216903272 0.2880283499141953 1.0 1.0 6 O75844 1 |
| Redundant neck skin 0.5737995703222049 1.0613022755853254 0.2885525519264353 1.0 1.0 7 Q53EZ4,Q9Y487 2 |
| Abnormal epidermal morphology 0.5475129636520973 1.0590459184916032 0.2895788679587028 1.0 1.0 19 P20810,P02545,Q06136,Q07954,O75844,Q14574,P52732,P98194,Q99828,Q6P1M0,P01889 11 |
| Joint contracture of the hand 0.378555035024614 1.0565837142179 0.2907016163268179 1.0 1.0 48 P02545,Q9NR77,O75844,Q15392,Q8IZA0,P42892,Q9Y619 7 |
| Infantile muscular hypotonia 0.4010805272212083 1.053716487588025 0.2920127380525241 1.0 1.0 64 Q8NB90,P07602,Q15043,Q05086,Q8N3U4,P17900,Q13509,O00754,P03886,P10253,P16278,Q9Y487 12 |
| Polyneuropathy 0.5424971877845803 1.0524763883097312 0.2925810379790778 1.0 1.0 20 P35670,P07602,P04066,P03886 4 |
| Misalignment of incisors 0.5984903409692569 1.049843993830314 0.2937898446909135 1.0 1.0 5 Q8WVM7,Q96N67 2 |
| Contractures involving the joints of the feet 0.5374397253024031 1.046949388986048 0.295122921254318 1.0 1.0 21 P50402,P02545,Q8WXH0,Q08J23,Q15149,Q8IZA0,Q8TD16 7 |
| Skin appendage neoplasm 0.6336565441412222 1.0465448110976117 0.2953095671424144 1.0 1.0 4 Q15437 1 |
| Abnormal gallbladder morphology 0.4605943490190908 1.0463092056361267 0.2954182965762946 1.0 1.0 34 P22830,P21964,Q69YQ0,P07602,Q15056,Q9Y223,Q15437,P04062,Q9Y4P3,P40855 10 |
| Abnormalities of placenta or umbilical cord 0.557378627996504 1.0437266174615742 0.2966118912877884 1.0 1.0 15 P02545,O75844,P16278 3 |
| Hyperkalemia 0.632925820213613 1.0435400085117512 0.2966982611373387 1.0 1.0 4 Q13423 1 |
| Impaired proprioception 0.3912261152910585 1.0434709157061242 0.2967302442307606 1.0 1.0 42 Q9NR77,P18887,P54802,Q12768,Q00796,O14773,Q8IV08,O00165,P07196,Q6UWE0,Q9Y619,Q96RR1 12 |
| Posterior fossa cyst 0.8962088253573527 1.0395313081136188 0.2985577051756531 1.0 1.0 2 Q9UHX1 1 |
| Delusions 0.5506758509850678 1.0387990967368403 0.2988981815467779 1.0 1.0 17 P50336,O00754,P07602,P04062 4 |
| Anophthalmia 0.5686642683028738 1.037114221080711 0.2996826282943146 1.0 1.0 7 P52732,O43505 2 |
| Thoracic scoliosis 0.5601651965939888 1.0337844138208705 0.3012369596527389 1.0 1.0 13 P02545,O75844,Q9UHX1,Q13509,Q96J02 5 |
| Abnormal blood transition element cation concentration 0.5575978051434665 1.031959067192036 0.3020912933144415 1.0 1.0 14 Q8NB90,Q10567,Q15904,P35670,Q9Y487,Q14746 6 |
| Adipose tissue loss 0.5645268472284433 1.030314305449145 0.3028624858290647 1.0 1.0 10 O75844 1 |
| Abnormality of the foot musculature 0.6291385077166495 1.0279787138392618 0.3039598406951871 1.0 1.0 4 Q9Y223,O14979 2 |
| Hyperglycemia 0.5659595087058685 1.027341565610201 0.304259656497591 1.0 1.0 8 P02545,O75844 2 |
| Abnormality of exocrine pancreas physiology 0.5339081053581688 1.0266632030764589 0.3045790818332339 1.0 1.0 21 P09601,P14174,P38398,Q9UHX1,Q15904,Q9UKG1 6 |
| Peripheral hypermyelination 0.7101457038101646 1.0255031831750074 0.3051258242178964 1.0 1.0 3 Q9NR77 1 |
| Orthostatic hypotension 0.5558208693596782 1.0228005902907311 0.3064021388844264 1.0 1.0 14 P07602,P04062,Q6Y7W6 3 |
| Scanning speech 0.7093563133039285 1.0225401413031547 0.306525324011982 1.0 1.0 3 O14773 1 |
| Abnormal protein o linked glycosylation 0.6274422977225329 1.021016409330611 0.3072466643625573 1.0 1.0 4 Q8N511 1 |
| Abnormal tissue metabolite concentration 0.5529696539721259 1.0206726987103685 0.3074095334818181 1.0 1.0 15 P06865,P07602,P06280,P17900 4 |
| Ecchymosis 0.557505251636961 1.0202651398020297 0.307602731511353 1.0 1.0 13 P10644,Q8NCH0,P04062 3 |
| Muscle fiber inclusion bodies 0.5629260732983443 1.017006374212775 0.3091503971116349 1.0 1.0 9 P06753,Q9Y223,O43676 3 |
| Shallow orbits 0.5634291024187328 1.015289864426318 0.3099676744244501 1.0 1.0 8 O75844 1 |
| Abnormal talus morphology 0.5313723644204011 1.0120990026149024 0.3114907192370908 1.0 1.0 21 Q9UHX1,O75844 2 |
| Pharyngitis 0.7065641655296999 1.0120683503986427 0.311505373875959 1.0 1.0 3 O15460 1 |
| Visual loss 0.3767332198726335 1.009753630698997 0.3126133408011713 1.0 1.0 50 O75503,P07602,Q10713,O15460,P52732,P50897,P03886 7 |
| Peripheral arterial stenosis 0.7058631471895586 1.0094414129159164 0.3127629858331902 1.0 1.0 3 P02545 1 |
| Increased ldl cholesterol concentration 0.5586299301336601 1.00817024267971 0.3133727408413098 1.0 1.0 11 Q8N511,P50402,P02545,Q8WXH0,P34913 5 |
| Hyperlipoproteinemia 0.5586299301336601 1.00817024267971 0.3133727408413098 1.0 1.0 11 Q8N511,P50402,P02545,Q8WXH0,P34913 5 |
| Increased vertebral height 0.7051201867711865 1.0066582853988508 0.3140990147308629 1.0 1.0 3 O00754 1 |
| Acantholysis 0.5879425864280895 1.0035535309456496 0.3155938624466574 1.0 1.0 5 P98194,P01889 2 |
| Hepatitis 0.5440509195614989 1.003118553372421 0.3158036638772175 1.0 1.0 17 Q9Y2V7,P11717,Q9Y619,Q04656,Q96J02,P35670,Q9H267 7 |
| Drowsiness 0.5611706653550341 1.001853095140561 0.3164145492330861 1.0 1.0 7 Q5H8A4 1 |
| Muscle stiffness 0.5372072117801757 1.0017699788304937 0.3164546997944719 1.0 1.0 19 Q15392,P07602,P23786,P53985 4 |
| Cervical myelopathy 0.8847110006214934 0.9984231899468546 0.3180741932236999 1.0 1.0 2 P16278 1 |
| Abnormal conjunctiva morphology 0.4879531589295215 0.9971294146413632 0.3187016969999763 1.0 1.0 29 Q9NZ08,P10619,Q15437,P04066,Q10567,P02786,P06280 7 |
| Abnormal corneal epithelium morphology 0.5428763343924413 0.9967948969172864 0.3188640757780399 1.0 1.0 17 P51648,P02545,O75844 3 |
| Myoclonic seizure 0.3782571640975437 0.9963519158167548 0.3190791872734124 1.0 1.0 52 Q9UBB6,P07602,O75503,Q8NB90,P04062,Q9Y619,P16278,P03886,Q01105 9 |
| Abnormal ureter morphology 0.4995756508217874 0.9962468287541324 0.3191302314569819 1.0 1.0 27 P02545,O76024,O75844,P38398,Q53EZ4,Q7LGA3,P23786 7 |
| Metaphyseal cupping 0.7021765507619134 0.9956415605541152 0.3194243338238649 1.0 1.0 3 O95831 1 |
| Increased intracranial pressure 0.5391958607188537 0.9939073805075976 0.3202679608691356 1.0 1.0 18 P10644,P07602,Q9NZ08 3 |
| Nephropathy 0.5195559499883824 0.9937751162631686 0.320332363224546 1.0 1.0 23 Q10713,Q14108,Q9UKG1,P06280,Q9H267,Q8NCM8,P03886 7 |
| Delayed cranial suture closure 0.4870548478011392 0.991129243210046 0.3216224752629504 1.0 1.0 29 P02545,O75718,Q08J23,Q8NCH0,O75844,Q32P28,Q9Y487,P40855 8 |
| Macroglossia 0.4530461939174067 0.9898643973357693 0.3222404034359796 1.0 1.0 34 Q10713,Q15056,Q15437,P04066,Q05086,Q7LGA3,Q9Y4P3,O00754,P10253,P16278 10 |
| Progressive visual loss 0.5271103515612358 0.9876251808811932 0.323336249275536 1.0 1.0 21 P50897,O75503 2 |
| Aplasia hypoplasia involving the nose 0.4979425761835921 0.9857764963141582 0.3242428018189476 1.0 1.0 27 P02545,Q08J23,O75844,Q5KU26,P10644 5 |
| Proportionate short stature 0.4596826875225115 0.985153521417206 0.3245486669416189 1.0 1.0 33 P10619,Q15392,P10644,Q13555,Q9Y619,P16278 6 |
| Vascular calcification 0.5574526365251583 0.9831711275929204 0.3255232222737141 1.0 1.0 6 P42224,P04062,P01130 3 |
| Abnormality of extrapyramidal motor function 0.4074987850121458 0.9825347305746168 0.3258364815849264 1.0 1.0 74 Q15043,O14949,P06753,Q9BPX6,P07602,Q15056,Q6Y7W6,Q99720,P05067,P17900,Q9Y4P3,Q9H9P8,Q9UBB4,P04062,Q6DKK2,P06865,Q96IX5,P16278,Q96RR1 19 |
| Abnormal sella turcica morphology 0.5561839745437986 0.9784178954919146 0.3278676808796503 1.0 1.0 7 P16278 1 |
| Broad ribs 0.5816055035686617 0.9758167209285508 0.3291552970974774 1.0 1.0 5 P16278 1 |
| Epistaxis 0.5441405266777 0.9745423113545736 0.329787341324264 1.0 1.0 15 P10644,O15460,P04062,Q6UN15,P38435,P35579,P12814,P01889 8 |
| Serositis 0.5284248859853192 0.973001634192658 0.3305524898980327 1.0 1.0 20 Q8N1F7,Q9BW27,Q9NZ08,O15460,P14174,P38398,P57740,O43707,P01889 9 |
| Cervical subluxation 0.6955778948759297 0.971007410636306 0.3315445883032444 1.0 1.0 3 P16278 1 |
| Multiple cafe au lait spots 0.5447705664718477 0.9658963614416748 0.3340960432325133 1.0 1.0 14 P38398,Q9NP58,Q15437,Q99828 4 |
| Diaphragmatic weakness 0.5788316258624231 0.963696304367796 0.3351982077109932 1.0 1.0 5 Q9NR77 1 |
| Limb girdle muscle atrophy 0.5462715156557516 0.96322795838672 0.3354331374075956 1.0 1.0 13 P50402,P02545,Q8WXH0,Q9Y223,P06753,O14979 6 |
| Abnormal oral frenulum morphology 0.545863335411553 0.96115777829443 0.336472842055858 1.0 1.0 13 P02545,O75844 2 |
| Verrucae 0.6925707180602939 0.9598109799617236 0.3371503552108619 1.0 1.0 3 Q13043,Q99828 2 |
| Diffuse cerebral atrophy 0.5327152431570994 0.9584923282560986 0.3378145581620764 1.0 1.0 18 P07602,P16278 2 |
| Abnormal b cell subset distribution 0.6913273235934001 0.9551872861935716 0.3394829940620751 1.0 1.0 3 O14920,P17812 2 |
| Cns demyelination 0.5425594384967676 0.9545236136450208 0.339818662224016 1.0 1.0 14 Q5H8A4,P07602,P51648 3 |
| Tachycardia 0.50201498223292 0.9452045383695552 0.3445544629325174 1.0 1.0 25 P23786,P42892,O43772 3 |
| Premature loss of teeth 0.5427133574830946 0.9451885680429212 0.3445626147654383 1.0 1.0 13 P02545,O75844 2 |
| Distal lower limb amyotrophy 0.5443463182930877 0.9447979522865172 0.3447620375013003 1.0 1.0 12 P02545,Q9NR77,P07196,Q8TD16,P06753 5 |
| Abnormal tongue morphology 0.3967213631802251 0.9439532412658111 0.3451935431459005 1.0 1.0 69 P02545,Q10713,Q9NQT5,O15460,Q15056,Q15437,P04066,Q05086,O75844,P61978,Q7LGA3,P16278,Q9Y4P3,O00754,P10253,Q8NCM8 16 |
| Eunuchoid habitus 0.6882188374261633 0.9436432733595036 0.345351971083212 1.0 1.0 3 Q9BZH6,P04350 2 |
| Hypothermia 0.5467362606450095 0.9435593768582564 0.3453948594589797 1.0 1.0 10 P03886 1 |
| Amyotrophic lateral sclerosis 0.5353543683293959 0.941620461067202 0.3463869902828205 1.0 1.0 16 Q99720 1 |
| Right ventricular hypertrophy 0.5736787422911274 0.9412178339957404 0.3465932393275204 1.0 1.0 5 P11047 1 |
| Aplasia hypoplasia of the optic nerve 0.5149938694162934 0.941200032185488 0.3466023602565957 1.0 1.0 22 P30153,P61978,Q9BZH6,Q9UHX1,Q8N3U4,Q13509,Q9Y6N7 7 |
| Occipital encephalocele 0.606385940707157 0.9350211249596436 0.3497774127299979 1.0 1.0 4 O43505 1 |
| Postural tremor 0.5311568672531646 0.9337637860294584 0.3504257537445778 1.0 1.0 17 Q14108,P03886 2 |
| Paresthesia 0.4996334442842465 0.9305276935602246 0.3520979323393152 1.0 1.0 25 P05067,O15460,Q9NR77,P54802,P06280 5 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.8654443753884231 0.9302250118392404 0.3522545943044239 1.0 1.0 2 O75503 1 |
| Diabetes insipidus 0.5350775520938686 0.927267413465918 0.353787708995906 1.0 1.0 15 O15460,O76024,Q9BZH6,Q8N3U4,Q9Y6N7,P06280,Q9H267 7 |
| Absent tibia 0.864201367308878 0.925857940234908 0.3545198116610955 1.0 1.0 2 Q8NCM8 1 |
| Metaphyseal spurs 0.864201367308878 0.925857940234908 0.3545198116610955 1.0 1.0 2 Q8NCM8 1 |
| Broad palm 0.5448581633936633 0.9253087286725804 0.3548053396667807 1.0 1.0 7 P10644,Q69YQ0 2 |
| Aplasia of the phalanges of the hand 0.6825558415695738 0.9226709166213458 0.3561787264775931 1.0 1.0 3 P02545 1 |
| Abnormal ldl cholesterol concentration 0.5339408970420034 0.9213456324177768 0.3568700038952457 1.0 1.0 15 Q8N511,P50402,P02545,Q8WXH0,Q15800,P34913 6 |
| Abnormal anatomic location of the heart 0.5408725450275349 0.9205284385995004 0.3572966788229397 1.0 1.0 11 P02545,O75844 2 |
| Abnormal arterial physiology 0.4874118427878444 0.9182862255104904 0.3584690367676812 1.0 1.0 27 P02545,Q9NZ08,O15460,Q15056,P05067,O75844,Q9Y4P3,P06280 8 |
| Tritanomaly 0.6813601885816221 0.9182529797690712 0.3584864377349888 1.0 1.0 3 O00429 1 |
| Anomalous trichromacy 0.6813601885816221 0.9182529797690712 0.3584864377349888 1.0 1.0 3 O00429 1 |
| Atrioventricular canal defect 0.54227400577759 0.9176700001999024 0.3587916581348107 1.0 1.0 9 Q9UHX1 1 |
| Hypoglycemic seizures 0.5428456570049849 0.915892115869394 0.3597234823906066 1.0 1.0 7 Q13423,P31751,P53985 3 |
| Lipodystrophy 0.4430935659907445 0.9154018319720804 0.3599807170039661 1.0 1.0 34 P50402,P02545,Q8WXH0,P28070,Q03252,O75844,P04066,P42166,Q9Y487 9 |
| Spontaneous recurrent epistaxis 0.6803213987776614 0.9144175906776748 0.3604974621657419 1.0 1.0 3 P04062 1 |
| Bone marrow foam cells 0.6802610824035499 0.91419497705738 0.3606144030191951 1.0 1.0 3 O15118 1 |
| Flat forehead 0.6009306918041216 0.9128958379306812 0.3612973267215886 1.0 1.0 4 Q13555,Q8NCH0 2 |
| Weak cry 0.5388899088758354 0.9107694556723503 0.3624168593398986 1.0 1.0 11 Q69YQ0,O75208,P11047 3 |
| Arterial thrombosis 0.5415948677523899 0.9097198065292076 0.3629702959572809 1.0 1.0 6 O15460 1 |
| Coloboma 0.3593577398641691 0.9087209729340782 0.3634974305841809 1.0 1.0 45 Q69YQ0,O95202,Q10713,Q5H8A4,P61978,Q12768,Q9UHX1,Q9NP58,O43505 9 |
| Abnormal pelvis bone morphology 0.6784180656235661 0.907397370385419 0.3641966995162438 1.0 1.0 3 Q04656 1 |
| Laryngeal dystonia 0.6779608330742956 0.9057123310005302 0.3650881340439031 1.0 1.0 3 O14662,P04350 2 |
| Abnormality of humoral immunity 0.375571354780649 0.8997278752317454 0.3682650852008124 1.0 1.0 57 Q9Y2V7,P02545,P09601,Q03252,P14174,P28070,P04062,P02786,Q15904,O00754,Q14108 11 |
| Proptosis 0.3754527503658973 0.8985589679789995 0.3688876226647117 1.0 1.0 57 P02545,Q69YQ0,O95202,O75718,Q5H8A4,Q15043,O75844,Q5KU26,Q32P28,P61978,P38398,Q8N3U4,Q96J02,Q9NX62,Q9BXW9,O00754 16 |
| Chronic diarrhea 0.5151130283898685 0.8979576682320953 0.3692081181528064 1.0 1.0 20 Q9Y2V7,Q93009,Q08J23,O14920,P02786,Q15904,Q04656,Q96J02 8 |
| Ascites 0.4987938779617366 0.8966322526853755 0.3699151818942612 1.0 1.0 24 P10644,O15118,Q14108 3 |
| Bradycardia 0.5354791483871316 0.8939966657339053 0.3713236751339401 1.0 1.0 11 P51970,P02545,O75208,Q96RR1,O43772 5 |
| Agitation 0.4469044155369712 0.8918339207466731 0.3724819572693194 1.0 1.0 33 P05067,P04062,P42892,P10644,Q15165 5 |
| Distal lower limb muscle weakness 0.5228642408324432 0.8892632673047196 0.3738616079199146 1.0 1.0 17 P02545,Q9NR77,Q15149,Q9Y223,Q00796,P07196,P06753 7 |
| Azoospermia 0.5327829612556982 0.8871051344045736 0.3750223000242501 1.0 1.0 12 P04062,Q9BZH6,P38398,Q9BXW9,Q13423 5 |
| Hypoparathyroidism 0.5291072527447539 0.8854761267464553 0.3758998899173951 1.0 1.0 14 P35670,P03886 2 |
| Joint subluxation 0.5357167878217686 0.8825954539220306 0.3774548856774458 1.0 1.0 7 Q9UHX1,P16278 2 |
| Pes valgus 0.5329552308213855 0.8815988415510961 0.3779937818098386 1.0 1.0 11 Q9UHX1 1 |
| Status epilepticus 0.35510705601542 0.8806869781720775 0.3784872667790844 1.0 1.0 44 P51970,P07602,Q15392,P52732,Q96F07,P42892,Q9Y487,Q96RR1,Q01105 9 |
| Focal white matter lesions 0.5350391674414902 0.8805999130403052 0.3785344056849897 1.0 1.0 8 O00584,Q9P0J1 2 |
| Abnormal circulating lipid concentration 0.4008109290210997 0.8789210281269844 0.3794440962361065 1.0 1.0 77 P22830,Q8N511,P07602,P02545,Q15800,P34913,O75844,O95470,Q15392,P61916,P06280,P23786,O43772 13 |
| Slender long bone 0.5254831884419567 0.877346841911619 0.3802982769232663 1.0 1.0 15 Q9Y487,Q32P28 2 |
| Generalized joint laxity 0.53080470336389 0.8772583543075586 0.3803463268782256 1.0 1.0 12 Q9Y487 1 |
| Retinal thinning 0.850217526413915 0.877034218295984 0.3804680524263708 1.0 1.0 2 P51648 1 |
| Abnormal urine cytology 0.4075121568300551 0.875071975447705 0.3815347443776118 1.0 1.0 38 P09601,O15460,P04062,P10644,P06280,Q14108 6 |
| Action tremor 0.3674154216541018 0.8748932481483501 0.3816319931674368 1.0 1.0 53 P07602,Q99720,Q14108,P03886 4 |
| Aplasia hypoplasia involving the vertebral column 0.5171229475316226 0.8734815549249876 0.3824006556369277 1.0 1.0 18 O95831,P04066,P34059,P10644,P16278,Q6NUQ1 6 |
| Rigidity 0.3672495142452826 0.8732504606999164 0.3825265760522693 1.0 1.0 53 P07602,Q6Y7W6,P04062,Q15392,P52732,Q96F07,Q9BPX6,P16278,Q96RR1 9 |
| High myopia 0.5322242108728426 0.8695654364168506 0.3845379332563401 1.0 1.0 9 Q9Y487 1 |
| Skin erosion 0.5325990036838272 0.8690862440446575 0.3847999601289336 1.0 1.0 8 P02545,O75844 2 |
| Parkinsonism with favorable response to dopaminergic medication 0.5307725489235836 0.8660856681523345 0.3864431840099551 1.0 1.0 10 P07602 1 |
| Abnormal elasticity of skin 0.3777221881622639 0.8659675875074501 0.3865079367106583 1.0 1.0 61 P02545,Q13126,Q9Y4P3,Q8NCH0,Q15056,O75844,P04062,O96000,Q9UHX1,A2RRP1,Q53EZ4,Q15904,Q04656,P38435,P10644,O00754,Q9Y487 17 |
| Acute coronary syndrome 0.512035501032189 0.8622320075384903 0.3885598596158963 1.0 1.0 19 P02545,Q9NZ08,Q15056,O75844,P01130,Q9Y4P3,P06280 7 |
| Protuberant abdomen 0.5309751613088824 0.8607790044848278 0.3893597706558496 1.0 1.0 6 P04062 1 |
| Enlarged thorax 0.5241947940206853 0.8603386659747474 0.3896023846461498 1.0 1.0 14 P02545,O75844,P04066 3 |
| Speech articulation difficulties 0.5306717948857029 0.8593845563876592 0.390128387258037 1.0 1.0 6 Q12959,Q8N3U4 2 |
| Hand muscle weakness 0.5256470013875862 0.8589312076860631 0.3903784705679611 1.0 1.0 13 Q9NR77,Q9Y223,P11047 3 |
| Abnormality of the antitragus 0.6649051911719042 0.8578433846575614 0.3909789497755902 1.0 1.0 3 Q9H2M9,Q92643 2 |
| Confusion 0.5169919612936642 0.857821113756194 0.3909912491883536 1.0 1.0 17 P05067,Q9Y619,O00754 3 |
| Expressive language delay 0.5264534842426377 0.8556284419141532 0.3922033326414809 1.0 1.0 12 Q8NB90,Q9UHX1,Q9Y223 3 |
| Opisthotonus 0.4916538964735433 0.8535418080953607 0.3933589132222566 1.0 1.0 24 P07602,P04062,Q99720 3 |
| Episodic vomiting 0.5245087481998738 0.8531978489200813 0.3935495960743536 1.0 1.0 13 P22695,P03886 2 |
| Neoplasm of the male external genitalia 0.52800994530563 0.8494557683474188 0.3956277325746202 1.0 1.0 9 P10644 1 |
| Abnormality of lipoprotein cholesterol concentration 0.5177689486668342 0.8487873208201111 0.3959996466486131 1.0 1.0 16 Q8N511,P50402,P02545,Q8WXH0,Q15800,P34913 6 |
| Postural instability 0.5150137214370514 0.8472445646780111 0.396858818445517 1.0 1.0 17 O75503,P04062 2 |
| Scapular winging 0.4905971159245212 0.8471716820092606 0.3968994351213006 1.0 1.0 24 P50402,P02545,Q8WXH0,Q9Y223,Q8TD16,P06753,P11047,Q9Y487 8 |
| Poor head control 0.3881233027037977 0.8470938457898283 0.3969428151234828 1.0 1.0 70 Q96CU9,P51970,P02545,P07602,Q10713,Q9NQT5,Q9Y6M9,Q5KU26,P00374,O96000,P06865,Q96F07,P17900,O43676,P03886,P06753,P11047 17 |
| Buphthalmos 0.6618380829926317 0.8466709717035167 0.3971785430307477 1.0 1.0 3 Q01968 1 |
| Gingivitis 0.5843892981568286 0.8462939954991122 0.3973887566851268 1.0 1.0 4 P53634 1 |
| Abnormal sternal ossification 0.5838945831229565 0.8443146452159298 0.3984936044485252 1.0 1.0 4 Q9Y619 1 |
| Scotoma 0.5236996015433382 0.8419606290675028 0.3998099915132997 1.0 1.0 12 O00429,O75306,P04439,Q8WWV3,Q9H061,P03886,O95140 7 |
| Abnormality of female external genitalia 0.446442159605698 0.8407614733443612 0.4004815744008252 1.0 1.0 32 P02545,Q69YQ0,Q08J23,Q15392,P10644,Q9Y619 6 |
| Abnormal cerebral artery morphology 0.517619164837776 0.8365595176950236 0.4028402086969596 1.0 1.0 15 P05067,Q9Y3Z3,P01130,P21359,P38435,P10644,P10253,P42224 8 |
| Abnormal motor nerve conduction velocity 0.5003549721800153 0.8344036472059251 0.4040535627054749 1.0 1.0 21 Q8TB36,P02545,Q9NR77,Q99720,Q6UWE0 5 |
| Abnormal delivery 0.4965336447538868 0.8337178807093923 0.4044399797251412 1.0 1.0 22 P02545,O75844,Q9Y487 3 |
| Generalized myoclonic seizure 0.3942959515721176 0.8321164762789584 0.4053432026494752 1.0 1.0 39 P07602,P04062,Q9Y619,P16278,P03886 5 |
| Abnormal cardiac ventricular function 0.5063294732061646 0.8307402039430312 0.4061204090851675 1.0 1.0 19 P02545,Q96RR1,O75844,O95677,P10253,P03886 6 |
| Slurred speech 0.523922965912336 0.8299941491695131 0.4065420916591571 1.0 1.0 9 Q9Y487 1 |
| Soft tissue sarcoma 0.4382581149206718 0.8287610851743838 0.4072396125159327 1.0 1.0 33 Q15392,Q13126 2 |
| Abnormality of the ribs 0.3818190399132112 0.8253786009454293 0.4091566799735349 1.0 1.0 67 P02545,O95831,O75718,Q5H8A4,O75844,Q32P28,Q12768,P54802,Q9UHX1,P34059,P16278,Q04656,O00754,Q9Y619,Q8NCM8 15 |
| Abnormality of pancreas physiology 0.3493815312517041 0.8233633819097494 0.4103013801171982 1.0 1.0 44 P02545,P09601,P14174,P38398,Q9UHX1,P53985,Q9UKG1,P03886 8 |
| Foot dorsiflexor weakness 0.4374886119266546 0.8231534189744102 0.4104207542419162 1.0 1.0 33 P02545,Q9NR77,Q9Y223,Q99720,Q6UWE0 5 |
| Dermal translucency 0.5214974092874995 0.8184644772017258 0.4130920178075052 1.0 1.0 9 O75844 1 |
| Blurred vision 0.5773920476331734 0.8183735434888272 0.4131439238194418 1.0 1.0 4 P04439,P03886 2 |
| Vasculitis 0.5216637075661319 0.8176614119513994 0.4135505502818999 1.0 1.0 8 Q9UBC1,O15460 2 |
| Flared iliac wing 0.5205811800711051 0.8131351230969687 0.4161405909051545 1.0 1.0 6 P16278 1 |
| Contractures of the joints of the lower limbs 0.3653621275703009 0.8128750702853142 0.4162896890433758 1.0 1.0 56 P02545,Q08J23,Q8IZA0,Q7LGA3,Q99720,P23786,Q86XL3 7 |
| Pulmonary embolism 0.5750878732457247 0.8092163927083824 0.4183906873829208 1.0 1.0 4 Q9NZ08 1 |
| Large earlobe 0.5195846859414041 0.807920130322035 0.419136562081237 1.0 1.0 8 Q15392,Q5VIR6 2 |
| Premature skin wrinkling 0.5020955007783027 0.8074219071300631 0.4194234496979825 1.0 1.0 19 O75844,Q9Y487 2 |
| Abdominal aortic aneurysm 0.5744045304681293 0.8065043588174087 0.419952095751275 1.0 1.0 4 O15460 1 |
| Hypolipoproteinemia 0.5182947913688797 0.8018826147335595 0.4226208636160438 1.0 1.0 8 Q15800 1 |
| Gastric ulcer 0.6493164812398919 0.8013807507081087 0.4229112554561067 1.0 1.0 3 P04062 1 |
| Postaxial hand polydactyly 0.5143258015854233 0.795581931300822 0.4262750721831385 1.0 1.0 12 Q10713 1 |
| Protruding tongue 0.5150694474004287 0.7941564121109953 0.4271043800737526 1.0 1.0 11 O60826,Q10713,P83436,Q9C0B1,Q96RL7,Q05086,Q9NRZ9,P67870 8 |
| Abnormal larynx morphology 0.4678383845134492 0.793203036077489 0.4276595389218895 1.0 1.0 27 P21964,P02545,Q69YQ0,P07602,Q9UHX1,Q96HY6,Q8NCM8 7 |
| Monochromacy 0.8256681168427484 0.7928558729931462 0.4278617992136242 1.0 1.0 2 Q6P4Q7 1 |
| Coronal craniosynostosis 0.515670870264912 0.7895971966618235 0.4297630459476274 1.0 1.0 7 Q9ULC3,Q9NX62 2 |
| Abnormal lung development 0.3515104674132007 0.7874383440808804 0.431025307891191 1.0 1.0 48 P21964,P02545,Q69YQ0,O95202,Q16134,Q5H8A4,O75844,Q9UHX1,Q53EZ4,Q5JTZ9,O00192,Q8NCM8 12 |
| Limb girdle muscular dystrophy 0.5146532897190055 0.7860219275851863 0.4318546409453527 1.0 1.0 9 P50402,P02545,Q8WXH0,O14979 4 |
| Limb ataxia 0.475776900082592 0.783968022950645 0.4330588737717344 1.0 1.0 25 Q10713,Q9NR77,P18887,P04062,Q12768,O14773,Q8IV08,P07196,O00754,Q14108 10 |
| Delayed eruption of teeth 0.3525434746653486 0.7835806278809563 0.4332862264754662 1.0 1.0 49 P10644,Q08J23,O75844,Q9Y487 4 |
| Congenital contracture 0.3496553544081116 0.7831456652706432 0.4335415776642766 1.0 1.0 47 P02545,Q8NCH0,Q15149,O75844,P04062,Q15392,Q53EZ4,P50570,Q99567,Q9UPT5,Q9H267,Q8TD16,P06753,Q969X5,Q8NF91 15 |
| Abnormal diaphysis morphology 0.3797207371172215 0.7785471249500656 0.4362465364845493 1.0 1.0 69 Q13126,O75718,Q9NR77,Q15056,Q32P28,P34059,Q7LGA3,Q13509,Q04656,P16278,Q9NX62,O00754,Q9Y619,Q8NCM8,Q9Y487 15 |
| Abnormal aortic valve morphology 0.3878540223609105 0.7771394223282257 0.4370765175135491 1.0 1.0 39 P21964,P02545,Q15056,O75844,P61978,P04062,P38398,Q9UHX1,Q9BXW9,Q9Y4P3,P06280 11 |
| Facial cleft 0.5355315813319514 0.7768472628647817 0.4372488885047572 1.0 1.0 5 Q8NCM8 1 |
| Anorexia 0.4700102278514851 0.776485157993546 0.4374625808439778 1.0 1.0 26 O15460,P04062,P38398,P10644,P06280,Q13423,Q14108 7 |
| Abnormality of hair pigmentation 0.4894524247501748 0.7723599042084617 0.4399012946624454 1.0 1.0 21 P10644,Q13126 2 |
| Facial hemangioma 0.5110176318561745 0.7695734441584938 0.4415529626861234 1.0 1.0 6 P16435,O60826,Q12768 3 |
| Abnormal shape of the palpebral fissure 0.5106805532945585 0.7694009549477623 0.4416553218722061 1.0 1.0 10 Q9UHX1,P38398,Q9BXW9 3 |
| Hypopigmentation of the fundus 0.6397241429170526 0.7670679854416426 0.4430410952455466 1.0 1.0 3 Q9Y619 1 |
| Abnormality of fundus pigmentation 0.6397241429170526 0.7670679854416426 0.4430410952455466 1.0 1.0 3 Q9Y619 1 |
| Primitive reflex 0.5106948443434873 0.7666918272296482 0.4432647639772749 1.0 1.0 7 P17900 1 |
| Megalencephaly 0.6396118824263615 0.7666685367369245 0.4432786149385492 1.0 1.0 3 P52788 1 |
| Spastic hyperactive bladder 0.5102038909046762 0.7658807308662773 0.443747272301447 1.0 1.0 6 P04062,Q6Y7W6 2 |
| Premature coronary artery atherosclerosis 0.816656308265984 0.7625167675004956 0.4457516395797865 1.0 1.0 2 P02545 1 |
| Premature arteriosclerosis 0.816656308265984 0.7625167675004956 0.4457516395797865 1.0 1.0 2 P02545 1 |
| Aortic atherosclerotic lesion 0.816656308265984 0.7625167675004956 0.4457516395797865 1.0 1.0 2 P02545 1 |
| Precocious atherosclerosis 0.816656308265984 0.7625167675004956 0.4457516395797865 1.0 1.0 2 P02545 1 |
| Abnormal spermatogenesis 0.5064070567372049 0.7624723589176271 0.4457781342192057 1.0 1.0 13 P04062,Q9BZH6,P38398,Q9BXW9,Q13423 5 |
| Arthropathy 0.5093898874650006 0.7621891467756989 0.4459471227407108 1.0 1.0 6 O15269,Q9UBC1 2 |
| Infectious encephalitis 0.509656739595723 0.7615856037934341 0.4463073696711954 1.0 1.0 8 Q9H9P8,P01889,P42224,Q9NZ08 4 |
| Unusual infection by anatomical site 0.5070464196510612 0.7597440172255641 0.4474076121338008 1.0 1.0 12 Q15833,Q9NZ08,Q9H9P8,O15460,P02786,P01889,P42224 7 |
| Dilatation of the cerebral artery 0.5080792239418526 0.7569719264841633 0.4490666816625355 1.0 1.0 10 P38435,P10644,P10253,P42224 4 |
| Proximal muscle weakness 0.3704888881830819 0.7547287931976978 0.4504117265032481 1.0 1.0 64 Q8TB36,P02545,Q13126,Q7Z406,P06753,Q9BPX6,P50402,P13473,Q99720,Q8TD16,Q9BQT8,P11047,Q8WXH0,Q00796,P35670,Q5T8D3,P50336,P10253,Q96RR1 19 |
| Fatty replacement of skeletal muscle 0.5073149787335298 0.7511823463436291 0.4525429230722531 1.0 1.0 7 Q9Y223 1 |
| Inflammatory abnormality of the eye 0.3846055387231926 0.7494524052658671 0.4535845750150189 1.0 1.0 39 Q9NZ08,Q15800,P14174,Q10567,P51648,P02786 6 |
| Abnormal optical coherence tomography 0.8126165320074603 0.7490248247206661 0.4538422430507889 1.0 1.0 2 P04439 1 |
| Photoreceptor layer loss on macular oct 0.8126165320074603 0.7490248247206661 0.4538422430507889 1.0 1.0 2 P04439 1 |
| Abnormal connection of the cardiac segments 0.353259446213126 0.7486759356382459 0.4540525512889786 1.0 1.0 52 P02545,Q69YQ0,O15460,Q15056,O75844,Q12768,P38398,Q9UHX1,Q8N3U4,Q8TAQ2,Q9Y4P3,Q9BXW9,P40855 13 |
| Micromelia 0.4778959652419619 0.7472141737353314 0.4549342897438977 1.0 1.0 23 O75718,Q15392,Q9UHX1,Q96HY6,P10644,Q8NCM8 6 |
| Premature birth 0.3505744433280052 0.7451069357669133 0.4562070765715527 1.0 1.0 43 P02545,O75844,P04062,O43676,Q6P1M0,P40855 6 |
| Upper limb spasticity 0.5061042313542785 0.7450868131644471 0.4562192404120284 1.0 1.0 8 Q99720 1 |
| Recurrent skin infections 0.5013438049829094 0.7442069371671475 0.4567512918294825 1.0 1.0 14 P53634,Q8NCH0,P02786,Q99828,P42224 5 |
| Large for gestational age 0.5057755248439149 0.7441637977971615 0.4567773866997529 1.0 1.0 9 Q12955,Q9UKG1,P31751 3 |
| Abdominal pain 0.3960020399241845 0.7441289734502857 0.4567984524495814 1.0 1.0 84 P50336,Q8N1F7,Q9NZ08,P14174,Q9Y223,P04062,O15460,Q15056,Q70HW3,P38398,P42892,Q14566,P10644,Q04656,P06280,Q13423,Q14108,P23786 18 |
| Calcification of the aorta 0.5273967963298732 0.7424154591146283 0.4578356560308014 1.0 1.0 5 P04062,P01130 2 |
| Orchitis 0.6326824599011239 0.742112322714749 0.458019284343077 1.0 1.0 3 Q9NZ08 1 |
| Pleuritis 0.6326824599011239 0.742112322714749 0.458019284343077 1.0 1.0 3 Q9NZ08 1 |
| Generalized osteoporosis 0.6325484619317667 0.7416394570153112 0.4583058105887305 1.0 1.0 3 P02545 1 |
| Aplasia hypoplasia of the skin 0.3579015006792403 0.7393358281435289 0.4597030985997747 1.0 1.0 56 P02545,Q13126,P53634,O75844,Q15392,P10644,Q96PU5,Q9Y619 8 |
| Abnormal morphology of the olfactory bulb 0.5569773813419991 0.7379600532443199 0.4605387241746324 1.0 1.0 4 Q13509 1 |
| Hypomimic face 0.5014431733809303 0.7377718529743923 0.4606531002843175 1.0 1.0 13 Q15043,P04062,Q9Y263,Q6Y7W6,Q96QK1,Q6P1N0,O75787,Q96RR1 8 |
| Ectopic calcification 0.357737572203974 0.7377215842767365 0.4606836530773766 1.0 1.0 56 P02545,P53634,P05067,O75844,P04062,P10644,P35670,P23786,O00584,P03886 10 |
| Abnormal peripheral myelination 0.4378608775073073 0.7375886413294453 0.4607644598824147 1.0 1.0 31 P02545,Q9NR77,P07602,P03886 4 |
| Sparse body hair 0.5031997391346297 0.7366396536848967 0.461341513839957 1.0 1.0 11 P02545,P53634,Q14574 3 |
| Symptomatic seizures 0.5038517664113158 0.7351306515105461 0.4622599285336224 1.0 1.0 9 Q13423,P31751,P53985 3 |
| Slowly progressive 0.3559973994004171 0.7342819302527233 0.4627769284851677 1.0 1.0 55 P50402,Q69YN2,P02545,O95831,O14979,Q9NR77,O14773,Q8IV08,P50570,Q99720,Q04656,P07196,O43707,Q6UWE0,O00584,O95140 16 |
| Stroke 0.4251281982800897 0.7332786374857639 0.4633885015986603 1.0 1.0 33 P51970,P02545,P05067,Q15056,O76024,O75844,P06280,P03886 8 |
| Psychosis 0.4482261861821094 0.732579265714603 0.4638150810669583 1.0 1.0 29 Q5JRX3,P50336,Q96RR1,O76024,Q8N0X7,O15118,P61916,P10644,P03886 9 |
| Abnormality of the parathyroid gland 0.4785645684527594 0.7298351393110744 0.4654909625561889 1.0 1.0 22 P10644,P35670,P03886 3 |
| Finger swelling 0.8067122436295808 0.7294325935023812 0.4657370863793537 1.0 1.0 2 P28070 1 |
| Abnormality of lens shape 0.806712243629565 0.7294325935023289 0.4657370863793857 1.0 1.0 2 P11047 1 |
| Hepatosplenomegaly 0.3659602295197058 0.7280792163198113 0.4665650956836655 1.0 1.0 41 Q96KG9,P10619,Q9Y223,P42224,P04062,P38398,Q96HY6,Q13043,Q13510,O00754,Q96J02,Q5HYI8,P16278,Q9Y285,Q14746 15 |
| Progressive sensorineural hearing impairment 0.5018173140285398 0.727153294049271 0.4671320542428296 1.0 1.0 10 O76024,P03886 2 |
| Hypercholesterolemia 0.4991999409649327 0.7266393012284615 0.4674469459605512 1.0 1.0 13 Q8N511,P02545,Q13045,P01130,Q01968,P57740,Q15904 7 |
| Horizontal nystagmus 0.4771069277823506 0.7214548065218684 0.4706297367874301 1.0 1.0 22 P07602,Q9H061,P04062 3 |
| Blue irides 0.5006599920836345 0.72017524409409 0.4714171041353272 1.0 1.0 9 P10644,Q15056,Q05086 3 |
| Slow decrease in visual acuity 0.5000170974987863 0.7178406087402313 0.4728555712632118 1.0 1.0 7 P03886,O75306,O95140 3 |
| Global brain atrophy 0.4855183262358497 0.7166411388411358 0.4735955536395466 1.0 1.0 19 P07602,Q9UHX1 2 |
| Slow saccadic eye movements 0.4992521885360364 0.7149823290771071 0.4746199624826586 1.0 1.0 10 Q8IV08 1 |
| Reduced subcutaneous adipose tissue 0.499486425270502 0.714480255193577 0.4749302612253234 1.0 1.0 8 O75844 1 |
| Metatarsus adductus 0.4967340579596264 0.7144246232295002 0.4749646505240648 1.0 1.0 13 Q08J23,O95202,Q13509,Q15392 4 |
| Proximal muscle weakness in upper limbs 0.4938549742757275 0.7143411678443098 0.4750162416338397 1.0 1.0 15 P50402,P02545,Q8WXH0,P50570,P07196,P50336,O95140 7 |
| Cardiorespiratory arrest 0.6247541188337157 0.7142703280535727 0.4750600363491621 1.0 1.0 3 O43772 1 |
| Ventricular tachycardia 0.4965784836027892 0.7136548168218187 0.4754406521828207 1.0 1.0 13 O43772 1 |
| Abnormal atrioventricular conduction 0.4942868094196381 0.7086892623195855 0.4785173296741423 1.0 1.0 14 P02545,O43772 2 |
| Prenatal maternal abnormality 0.4941196595565422 0.70785042328306 0.4790381496176339 1.0 1.0 14 P02545,O43772 2 |
| Incoordination 0.3748760503395413 0.7054924076540793 0.4805038551473828 1.0 1.0 71 Q9NZJ7,P06753,O75503,P07602,Q92974,Q69YN2,Q10713,Q9NR77,Q15149,Q6Y7W6,O14773,Q96QK1,O95140,P11047,Q05086,P35670,Q9Y619,Q8NF91,Q01105,Q9UBB4,P04062,Q6DKK2,O00165,Q99707,Q13510,O00754,Q96RR1 27 |
| Abnormal neural tube morphology 0.3550807380754735 0.7053870265747383 0.4805694153704907 1.0 1.0 42 P21964,Q10713,Q08J23,Q15149,Q15056,P38398,Q9UHX1,Q8N3U4,P21359,Q99707,Q9Y4P3,Q9BXW9,O00192 13 |
| Aplasia hypoplasia of the pubic bone 0.4965849484956833 0.7044491431147533 0.4811531109470754 1.0 1.0 6 Q5H8A4,O95202,O15357 3 |
| Sound sensitivity 0.4966188439663354 0.7012738433396299 0.4831321340502266 1.0 1.0 8 Q9Y4P3,Q15056,P17900 3 |
| Hyperacusis 0.4966188439663354 0.7012738433396299 0.4831321340502266 1.0 1.0 8 Q9Y4P3,Q15056,P17900 3 |
| Inflammation of the large intestine 0.4940021330369187 0.7009213580905697 0.4833520946628069 1.0 1.0 13 Q9Y2V7,Q6PGP7,P08183,Q13043,P01889,P42224 6 |
| Renal tubular atrophy 0.5472636815920331 0.7003339300201449 0.4837187868970463 1.0 1.0 4 Q96AX1,Q8WUM0,P57740 3 |
| Type ii lissencephaly 0.6207463693135064 0.7003058360286784 0.483736327886642 1.0 1.0 3 O43505 1 |
| Abnormal pleura morphology 0.4793724680998964 0.6982874779048718 0.4849974287294678 1.0 1.0 20 O15460,P52732,P14174,Q9NZ08 4 |
| Advanced eruption of teeth 0.4950271742747921 0.6973433996553335 0.4855879138806669 1.0 1.0 11 P02545,O75844 2 |
| Hyporeflexia of lower limbs 0.4942892337875022 0.691825646816726 0.4890468284922917 1.0 1.0 7 P02545 1 |
| Malrotation of small bowel 0.5442982318365821 0.6889398996882614 0.490861089298388 1.0 1.0 4 Q8NCH0 1 |
| Neoplasm of the small intestine 0.492897388643979 0.6879482558709589 0.4914853668035721 1.0 1.0 6 P02545 1 |
| Venous insufficiency 0.4936844661195786 0.6876386897465736 0.4916803377262555 1.0 1.0 9 P21964,P04062,Q04656 3 |
| Panniculitis 0.4926432805897255 0.6843770686960866 0.493737092388899 1.0 1.0 7 P52732 1 |
| Chronic pulmonary obstruction 0.4921036989052948 0.6802955020435113 0.496317372005066 1.0 1.0 9 P21964,P09601,P06280 3 |
| Sepsis 0.4745579009933518 0.6717257565011302 0.5017583011271618 1.0 1.0 20 P02786 1 |
| Soft skin 0.4900409861544871 0.671510816170844 0.5018951713969138 1.0 1.0 10 Q13126,O00754,Q04656 3 |
| Cardiac conduction abnormality 0.4281633243192217 0.6706752041841479 0.5024274622689133 1.0 1.0 31 P02545,P23786,P03886,O43772 4 |
| Widely spaced incisors 0.5393414169413846 0.6699977573578104 0.5028592198184025 1.0 1.0 4 Q9BSJ2,Q8WVM7 2 |
| Lacticaciduria 0.4885560816261824 0.6686030529302274 0.5037487245961696 1.0 1.0 6 Q9BQT8,P03886,Q9P0J1 3 |
| Abnormal aortic valve physiology 0.3750775131826193 0.6684626386543041 0.5038383230201873 1.0 1.0 39 P02545,Q9NZ08,Q15056,O75844,P04062,Q12768,Q9UHX1,O00754,Q96PU5,P16278 10 |
| Muscle flaccidity 0.7877563704163908 0.6676262016472748 0.5043722281532586 1.0 1.0 2 P13473 1 |
| Onychogryposis 0.787756370416388 0.667626201647264 0.5043722281532654 1.0 1.0 2 P53634 1 |
| Abnormal systemic blood pressure 0.3981907050229741 0.6674046203218451 0.5045137154467021 1.0 1.0 92 P02545,Q15051,Q96J02,O00192,P07602,Q10713,Q15056,Q6Y7W6,P42892,Q04656,Q9UDY2,P06280,Q13423,P42224,O75844,P01130,P10644,Q9Y4P3,Q9NP58,P49366,O43772,P03886,P21964,P04062,P50336 25 |
| Splenomegaly 0.4005751138243312 0.6661168870364158 0.5053363914671327 1.0 1.0 94 Q9Y2V7,P02545,P14174,Q96HY6,O15118,Q15904,P61916,Q96J02,Q14108,P07602,Q10713,Q9Y223,P04066,Q15392,Q9NZ08,Q15437,P54802,P35670,Q6NUQ1,P21964,P28070,P04062,O00754,P10253,P16278 25 |
| Increased circulating antibody level 0.4868515564987793 0.6657346050014398 0.505580750537155 1.0 1.0 13 Q14108,P04062 2 |
| Corneal scarring 0.6106717959575039 0.6655498391021342 0.5056988773198487 1.0 1.0 3 Q03001 1 |
| Abnormality of abdominal situs 0.50844031732619 0.6633325784312716 0.5071175759232476 1.0 1.0 5 Q5H8A4 1 |
| Hypoplastic pubic rami 0.50844031732619 0.6633325784312716 0.5071175759232476 1.0 1.0 5 Q5H8A4 1 |
| Rib segmentation abnormalities 0.50844031732619 0.6633325784312716 0.5071175759232476 1.0 1.0 5 Q5H8A4 1 |
| Prolonged partial thromboplastin time 0.5081781072012348 0.6622514331618128 0.5078100966663226 1.0 1.0 5 Q9Y223 1 |
| Esophageal atresia 0.486936396701463 0.661409159846693 0.508349953252919 1.0 1.0 6 Q9BXW9,Q8NCM8 2 |
| Hyperkeratosis 0.3491709222382531 0.653515884856095 0.513423752113908 1.0 1.0 56 Q9Y2V7,P02545,P20810,P53634,Q06136,Q07954,Q15149,O75844,Q14574,P04066,Q15437,P51648,Q10567,P04062,P42166,Q9NWM8,Q6P1M0,P06280 18 |
| Lower limb amyotrophy 0.4761244900843281 0.6528441143289297 0.5138567805445007 1.0 1.0 18 P02545,Q9NR77,Q9Y223,P07196,Q8TD16,P06753 6 |
| Memory impairment 0.3806344702313942 0.6526288586570496 0.5139955761905426 1.0 1.0 38 P07602,P05067,P03886 3 |
| Abnormal urine protein level 0.354435788004897 0.6512950171690497 0.5148560643154376 1.0 1.0 60 Q8N1F7,Q03252,P00403,Q14108,Q9BW27,Q15056,Q5JRA6,P06280,P11047,P09601,P57740,O43707,P21359,Q9Y4P3,P35579,P35670,P03886,Q86YH6,P04062,Q01968,O95470 21 |
| Narrow nasal ridge 0.4853036339551571 0.6495310974035431 0.5159951529190634 1.0 1.0 8 O75844 1 |
| Hydroureter 0.4826203528435047 0.6450296641028886 0.5189079623873865 1.0 1.0 13 P38398,O76024,Q7LGA3 3 |
| Abnormality of the leydig cells 0.7796768178992939 0.641832345497887 0.5209820455182421 1.0 1.0 2 Q13423 1 |
| Petechiae 0.4827198277665941 0.6414697710076082 0.5212175148190519 1.0 1.0 12 P10644 1 |
| Breech presentation 0.4834425356732906 0.6402780645180258 0.5219918389091318 1.0 1.0 9 P06753,Q9Y619,Q969X5,O75718 4 |
| Abnormal circulating long chain fatty acid concentration 0.5027069217751585 0.6397804545415231 0.522315341300214 1.0 1.0 5 P23786 1 |
| Short palpebral fissure 0.4435662117115851 0.6396363131629785 0.5224090686330034 1.0 1.0 27 P02545,Q9Y619,Q9UHX1,O75844 4 |
| Microglossia 0.5313082061803639 0.6395897555111326 0.5224393443992825 1.0 1.0 4 Q9UBM7,Q03252 2 |
| Limited hip movement 0.4771902438249271 0.6378554537220753 0.523567777682536 1.0 1.0 16 P02545,O75844,Q7LGA3,Q8TD16,P06753 5 |
| Vertebral compression fracture 0.475092148950383 0.6364243723795246 0.5244998594865256 1.0 1.0 17 Q14108,P04062 2 |
| Open mouth 0.4419719913963222 0.6296442163839733 0.5289273874231202 1.0 1.0 27 P30153,Q13045,Q10713,Q03001,P61978,P04062,Q01968,P10644,Q86XL3 9 |
| Abnormal internal carotid artery morphology 0.7750155376009982 0.6271121651111923 0.5305857134306897 1.0 1.0 2 P01130 1 |
| Positive romberg sign 0.4804837145553715 0.6268406264672977 0.5307637098455908 1.0 1.0 10 Q8IV08,P07196,P18887,Q96RR1 4 |
| Absent testis 0.527852780619642 0.6266269164935786 0.5309038202715941 1.0 1.0 4 P38398 1 |
| Thoracic hypoplasia 0.4101530246588221 0.6251695875952885 0.5318597599373618 1.0 1.0 33 P02545,O75718,Q9Y223,P04062,Q9UHX1,Q96HY6,Q04656,Q8NCM8 8 |
| Hemolytic anemia 0.4038201811785387 0.6232152953984066 0.5331430517796982 1.0 1.0 34 P22830,P35670,P09601 3 |
| Cyanosis 0.4725128733898778 0.623040336318585 0.5332580155026629 1.0 1.0 17 P02545,O75844,O43772 3 |
| Cone shaped epiphysis 0.4778077349993748 0.6215944671233914 0.5342085600790067 1.0 1.0 13 P10644,Q8NCM8 2 |
| Pustule 0.5970959542714935 0.6195686433324613 0.5355418163006835 1.0 1.0 3 P53634 1 |
| Hepatic encephalopathy 0.5256461621898376 0.6183874470727521 0.536319970484783 1.0 1.0 4 Q6NUQ1 1 |
| Chronic axonal neuropathy 0.7722187694220051 0.6183385736553749 0.5363521798056232 1.0 1.0 2 O15269 1 |
| Nephronophthisis 0.4969473329216541 0.6163146112223121 0.5376868973221629 1.0 1.0 5 Q8NCM8 1 |
| Anal stenosis 0.5246657577777636 0.614736488760317 0.538728758342661 1.0 1.0 4 Q08J23 1 |
| Hammertoe 0.4640834716957238 0.6143377391743932 0.5389921690204191 1.0 1.0 20 Q6UWE0,Q9NR77,Q99720 3 |
| Telangiectasia 0.4085890936558173 0.6139481365854148 0.5392495995990769 1.0 1.0 33 P02545,P10619,Q15437,Q8IZA0,Q5VIR6,P06280,P03886 7 |
| Adult onset 0.357349268924747 0.6136961832350118 0.5394161109992583 1.0 1.0 65 Q9Y4G8,P02545,P07602,Q9Y223,O76024,P04062,Q12768,Q8IV08,O15118,Q14566 10 |
| Abnormal heart valve morphology 0.3705805535259271 0.6130529281846907 0.5398413433665974 1.0 1.0 75 P02545,P38398,P06753,Q96PU5,O00192,Q15056,Q9UHX1,P06280,Q9BXW9,Q8NCH0,O75844,Q12768,P10644,Q9Y4P3,P21964,O95202,Q5H8A4,P61978,P04062,P34059,P16278 21 |
| Abnormality of primary teeth 0.4757663670913329 0.6116931451931049 0.5407407980138439 1.0 1.0 13 P02545,O75844 2 |
| Impaired social interactions 0.3323733567173617 0.611436711657675 0.5409105048278535 1.0 1.0 47 Q8NB90,Q9Y6M9,Q5KU26,Q9UHX1,O43676,P03886 6 |
| Abnormal circulating cholesterol concentration 0.4020918350672503 0.6105021532403987 0.5415292174711535 1.0 1.0 34 Q8N511,P02545,P07602,Q15800,P34913,Q15392 6 |
| Genu valgum 0.3825137688136761 0.6103831482635974 0.5416080285708591 1.0 1.0 37 Q9NR77,Q15056,P34059,Q7LGA3,Q04656,Q13509,Q9NX62,Q9Y619,P16278,O00754 10 |
| Poor eye contact 0.375260162887689 0.6085110629671218 0.5428485708546646 1.0 1.0 38 Q8NB90,Q5KU26,Q9UHX1,O43676,P03886 5 |
| Impaired pain sensation 0.4674687557600085 0.6071609539019446 0.5437441019546481 1.0 1.0 18 Q13045,O95831,Q9NR77,P61978,Q00796,P07196,O95140 7 |
| Elevated hemoglobin a1c 0.522288267428868 0.605908515683562 0.5445755043591181 1.0 1.0 4 Q9UKG1 1 |
| Progressive leukoencephalopathy 0.5926476926614037 0.6047332307929221 0.5453562643467282 1.0 1.0 3 Q5JTZ9 1 |
| Steppage gait 0.4564413883675071 0.6036894319530232 0.5460501415607686 1.0 1.0 22 Q6UWE0,P02545,Q9NR77,Q9Y223 4 |
| Atrophic scars 0.4745406558002518 0.6009337038721152 0.5478841436576807 1.0 1.0 8 P53634,Q07954,Q8NCH0,Q03001,Q9NWM8 5 |
| Titubation 0.4743977815846589 0.5989197239574302 0.5492264178441988 1.0 1.0 9 Q5T8D3,Q99720 2 |
| Neoplasm of the oral cavity 0.4743421550548783 0.5986668504252227 0.5493950671484849 1.0 1.0 9 P02545 1 |
| Abnormal rib ossification 0.520211442786065 0.5982271954294895 0.549688347663839 1.0 1.0 4 Q14739,Q9Y3A5,Q5F1R6 3 |
| Abnormal greater sciatic notch morphology 0.5202114427860625 0.598227195429481 0.5496883476638448 1.0 1.0 4 Q96HY6,Q9Y3A5,Q5F1R6 3 |
| Horizontal ribs 0.7653822249844393 0.5970826913856149 0.55045217332374 1.0 1.0 2 Q8NCM8 1 |
| Skin nodule 0.4549548408131016 0.5953074189188472 0.5516379976946486 1.0 1.0 22 P52732,P34913,P06280,Q9NZ08 4 |
| Zonular cataract 0.4728883669226388 0.5944996555226548 0.5521779726230724 1.0 1.0 12 P08670,Q99797,O76024,Q8WWV3,Q01968 5 |
| Glycosuria 0.473459634582893 0.5943327539087375 0.5522895756123218 1.0 1.0 10 P35670,P02545 2 |
| Hoarse cry 0.763828464885 0.5922904763662155 0.5536560921464437 1.0 1.0 2 Q69YQ0 1 |
| Epidermal acanthosis 0.472826879419055 0.5914189068973782 0.5542397752545067 1.0 1.0 10 Q6P1M0,P20810,Q99828,Q14574 4 |
| Dermal atrophy 0.4358359508161467 0.5913265176031837 0.5543016652729014 1.0 1.0 27 P02545,P53634,O75844,Q15392,P10644 5 |
| Recurrent pharyngitis 0.7632069608452255 0.5903776779208473 0.5549374724732667 1.0 1.0 2 O15460 1 |
| Glossitis 0.7632069608452255 0.5903776779208473 0.5549374724732667 1.0 1.0 2 O15460 1 |
| Gastrointestinal infarctions 0.7632069608452255 0.5903776779208473 0.5549374724732667 1.0 1.0 2 O15460 1 |
| Steroid resistant nephrotic syndrome 0.4899983778567873 0.5882809490214614 0.5563437307481072 1.0 1.0 5 Q8N1F7 1 |
| Myoclonus 0.3816928421666609 0.5832438743364692 0.55972913947435 1.0 1.0 86 Q96CU9,O75503,P07602,Q9Y4G8,Q10713,Q9UBX3,Q01105,Q96RR1,P05067,P04062,Q05086,O14773,Q96F07,P50897,Q5VIR6,Q14108,P03886,Q96N67 18 |
| Cachexia 0.4602285415995136 0.5804327650987426 0.5616228150062035 1.0 1.0 19 P07602,P04062,Q99720 3 |
| Short nose 0.3939186143056286 0.5797518748146894 0.5620819555082139 1.0 1.0 96 Q69YQ0,Q02252,P38435,Q8NCH0,O75844,P04062,Q5KU26,Q12768,Q15056,Q15392,Q9UHX1,Q96C86,P42892,Q8TAQ2,P10644,Q9NX62,Q5VIR6,Q9Y487 18 |
| Macular degeneration 0.4670491019386671 0.5793348970088177 0.5623632230638247 1.0 1.0 15 P50897,P04062 2 |
| Abnormal visual electrophysiology 0.3289824355548207 0.5779504131633404 0.5632975978310943 1.0 1.0 47 P50897,O75503 2 |
| Male reproductive system neoplasm 0.4678894714264306 0.5779217944725877 0.5633169202032664 1.0 1.0 14 P10644,Q13423 2 |
| Abdominal distention 0.4480954610673777 0.574291842743914 0.5657703282504682 1.0 1.0 23 P07602,P04062,Q9Y223,Q8NCM8 4 |
| Abnormality of tibia morphology 0.4679482859320281 0.5711190634229083 0.5679189370413109 1.0 1.0 12 Q8NCM8,O95831,Q32P28 3 |
| Woolly hair 0.4659023389611879 0.5693093617837355 0.5691462146898905 1.0 1.0 6 Q04656,Q6PGP7 2 |
| Aplasia hypoplasia of the tongue 0.4852255054432487 0.5692141398692301 0.5692108259878372 1.0 1.0 5 P08754,Q9UBM7,Q03252,Q96J42 4 |
| Chordee 0.4852255054432346 0.5692141398691751 0.5692108259878745 1.0 1.0 5 O60341,P16435,P49589,P53701 4 |
| Abnormality of nail color 0.4657772487746929 0.5687697904811349 0.569512378411339 1.0 1.0 6 P52732,Q14574 2 |
| Leukonychia 0.4657772487746929 0.5687697904811349 0.569512378411339 1.0 1.0 6 P52732,Q14574 2 |
| Laryngomalacia 0.4655051765191983 0.5663088864477726 0.571183820536217 1.0 1.0 14 P07602 1 |
| Macular purpura 0.4630262042232705 0.5660305589184149 0.5713730070078527 1.0 1.0 16 P10644,Q8NCH0,P04062 3 |
| Underdeveloped supraorbital ridges 0.4664922127468849 0.5627312141552178 0.5736179257777496 1.0 1.0 11 Q08J23,P52732 2 |
| Disproportionate short stature 0.4308845693140493 0.5605867243735535 0.575079303706381 1.0 1.0 27 O75718,Q32P28,Q15392,Q9UHX1,Q96HY6,O00116,Q7LGA3,P34059,P16278,P10644,Q8NCM8 11 |
| Rimmed vacuoles 0.4631737237819948 0.5601606633436778 0.5753698555147375 1.0 1.0 15 P50402,P02545,Q8WXH0,Q9Y223,O14979 5 |
| Aortic valve stenosis 0.4656573799028226 0.5594287815376537 0.5758691233022546 1.0 1.0 9 P16278,O75844,P04062 3 |
| Cloverleaf skull 0.752952144188942 0.5591626325624885 0.5760507328445352 1.0 1.0 2 Q9ULC3 1 |
| Aplasia hypoplasia of the clavicles 0.4653882021354569 0.5576213914214931 0.5771029460780772 1.0 1.0 11 P02545,Q9Y619,O75844 3 |
| Sparse lateral eyebrow 0.4651099596245079 0.5569723405878791 0.5775463272248178 1.0 1.0 9 Q9Y2V7,Q08J23 2 |
| Ovoid vertebral bodies 0.4649027106996518 0.5560428945257752 0.5781815317505816 1.0 1.0 9 P16278,P54802 2 |
| Retinal degeneration 0.3404460402077858 0.5548981616083817 0.5789643194209249 1.0 1.0 57 O75503,P02545,P04439,Q10713,P04062,P51648,O14773,Q96F07,Q7LGA3,P50897,O00754 11 |
| Kinetic tremor 0.400132507717762 0.5535602760218932 0.5798798184543963 1.0 1.0 33 Q14108 1 |
| Macular atrophy 0.4622782290479331 0.5495875384320689 0.5826023079801459 1.0 1.0 7 P04439,P04062 2 |
| Contractures of the joints of the upper limbs 0.3612796525403262 0.5491884496013105 0.5828761302057972 1.0 1.0 73 P02545,Q9NR77,O75844,Q15392,Q8IZA0,Q99720,P42892,Q7LGA3,P23786 9 |
| Meningioma 0.4626503061612242 0.5480722037379754 0.5836423257522365 1.0 1.0 8 P78549,P02545,Q15437 3 |
| Generalized onset motor seizure 0.3340324086835721 0.5458216329990334 0.5851885513754349 1.0 1.0 53 Q8NB90,P07602,Q01105,P04062,Q05086,Q5VIR6,Q9Y619,P16278,P03886,Q14746 10 |
| Optic disc pallor 0.326582358070363 0.5406165263944033 0.5887719244283325 1.0 1.0 48 Q10713,O95831,Q9Y6M9,Q9H061,O43676,O00754,P03886 7 |
| Spina bifida 0.3864970939348415 0.5404709614453603 0.588872281771625 1.0 1.0 35 P21964,Q10713,Q08J23,Q15056,P38398,Q9UHX1,Q9Y4P3,Q9BXW9 8 |
| Varicose veins 0.4592912649518931 0.5366443808904535 0.5915132817642224 1.0 1.0 7 P21964,P04062 2 |
| Cerebral calcification 0.4082480002197158 0.5348862043262369 0.5927285484656752 1.0 1.0 31 P23786,P05067,O00584,P03886 4 |
| Emphysema 0.460332612414405 0.5344255690817825 0.5930471326278268 1.0 1.0 10 P02545,P06280 2 |
| Contractures of the large joints 0.7445618396519627 0.5341280281188188 0.5932529593585991 1.0 1.0 2 Q9Y263 1 |
| Lens subluxation 0.5024875621890476 0.5339050219218953 0.5934072474196319 1.0 1.0 4 O75533,Q99496,Q9Y467 3 |
| Vitreous hemorrhage 0.502487562189047 0.5339050219218927 0.5934072474196337 1.0 1.0 4 P35222,O75533,Q99496 3 |
| Progressive microcephaly 0.3590308987490037 0.533256759035442 0.593855855957673 1.0 1.0 39 P50897,Q5KU26,Q9Y487 3 |
| Muscle fiber atrophy 0.4403972120137828 0.5304793601128596 0.5957796156623529 1.0 1.0 23 P50402,P02545,P23786,P61978,Q99720,P06753,P11047 7 |
| Tetraplegia 0.4592561887741875 0.5303827772754875 0.5958465646630713 1.0 1.0 12 P51970,Q13423,O95831 3 |
| Weight loss 0.3618778791516987 0.5299267756973941 0.5961627007791259 1.0 1.0 75 P02545,P07602,Q9NZ08,O15460,O75844,Q6Y7W6,P04062,P38398,Q9UBC1,Q99720,Q04656,P42892,P10644,P35670,Q13423 15 |
| Pruritus 0.4367815250425791 0.5281987925263509 0.5973613673815601 1.0 1.0 24 P22830,Q6P1M0,P35670 3 |
| Duodenal adenocarcinoma 0.7423865755127421 0.5277148768115525 0.5976972461139309 1.0 1.0 2 P78549 1 |
| Adenocarcinoma of the small intestine 0.7423865755127421 0.5277148768115525 0.5976972461139309 1.0 1.0 2 P78549 1 |
| Multiple prenatal fractures 0.4567647147598103 0.52574765356666 0.5990635492423526 1.0 1.0 7 Q32P28,O75718 2 |
| Abnormal cervical spine morphology 0.4553836388322695 0.5243222193646663 0.6000544451520806 1.0 1.0 6 P04066 1 |
| Thickened calvaria 0.4566956133302471 0.521969176919582 0.6016917916089661 1.0 1.0 8 P16278 1 |
| Severe short stature 0.4381974482190565 0.5180429636277575 0.6044282935600349 1.0 1.0 23 Q15392,Q9Y619,P16278,P10619 4 |
| Abnormal metabolic brain imaging by mrs 0.4525316645546304 0.513679116746395 0.6074763548297697 1.0 1.0 16 P07602 1 |
| Focal segmental glomerulosclerosis 0.4399067628655078 0.5113158348317738 0.6091299187979113 1.0 1.0 22 Q8N1F7,Q9BW27,P57740,O43707,O75431,P00403,O95470,Q14108,P03886 9 |
| Abnormal leukocyte physiology 0.3453069761033355 0.5105020787837622 0.6096997585996013 1.0 1.0 64 Q9Y2V7,P21964,P02545,P09601,P14174,P28070,P04062,P02786,Q15904,Q96J02,O00754,Q14108 12 |
| Distal upper limb amyotrophy 0.4545093224417531 0.5101943197375219 0.609915331289675 1.0 1.0 13 Q8TB36,Q9NR77,Q9BQT8 3 |
| Increased blood pressure 0.3607959490707346 0.5072832091238971 0.6119561182186248 1.0 1.0 76 P02545,Q15051,Q96J02,O00192,Q10713,Q15056,P42892,Q9UDY2,P06280,P42224,O75844,P01130,Q9Y4P3,P10644,Q9NP58,P03886,P21964,P04062,P50336 19 |
| Resting tremor 0.4416460653926242 0.5063784221207068 0.6125910194493209 1.0 1.0 21 Q9NZJ7,P07602,Q6Y7W6,P04062,Q9H6K4,Q96QK1,Q709C8,Q9BPX6,O75787,Q96RR1 10 |
| Papule 0.4409371912732685 0.502545137729544 0.6152841096999266 1.0 1.0 21 P02545,Q07954,Q9NZ08,Q15149,O75844,Q15437,Q99828,P21359,P38435 9 |
| Osteosarcoma 0.4322425132940087 0.5020752050672468 0.6156146208180577 1.0 1.0 24 Q13126 1 |
| Hemoptysis 0.4933174952193434 0.5015704967389443 0.6159696770750323 1.0 1.0 4 Q9NZ08 1 |
| Abnormal chorioretinal morphology 0.428715000964988 0.5011598425951317 0.6162586336700016 1.0 1.0 25 Q10713,P52732,Q9Y619,O43505,P40855 5 |
| Periauricular skin pits 0.4526966476190099 0.5000137060737053 0.6170654266184075 1.0 1.0 12 Q69YQ0,O95202,Q07954,P61978,Q9ULC3,Q8N3U4 6 |
| Abnormal aortic arch morphology 0.4525433895843309 0.499308264315436 0.6175622339537954 1.0 1.0 12 P21964,Q9UHX1,P30153 3 |
| Thoracolumbar kyphosis 0.4667342723343023 0.4969577327409613 0.6192188578544933 1.0 1.0 5 P04062 1 |
| Laryngeal cleft 0.7315102548166302 0.4961464775455714 0.6197910697115692 1.0 1.0 2 Q69YQ0 1 |
| Heart block 0.4311190368874724 0.4956362392035593 0.6201510799507983 1.0 1.0 24 P50402,P02545,Q8WXH0,Q07954,Q15149,P23786,P06280,Q8NF91,O43772 9 |
| Distal muscle weakness 0.3463053805357441 0.4945189266303808 0.6209397430987065 1.0 1.0 66 Q8TB36,P02545,O95831,Q7Z406,P06753,Q9NR77,Q9Y223,P18887,Q15149,Q99720,Q04656,Q8TD16,Q9BQT8,O95140,P11047,O15269,Q00796,P07196,Q6UWE0 19 |
| Immune dysregulation 0.7305779987569976 0.4934801930271024 0.6216733317066221 1.0 1.0 2 P42224 1 |
| Schizophrenia 0.4415519789266874 0.4932554302340728 0.6218321162705926 1.0 1.0 20 P21964,P07602,O76024,P04062,Q6Y7W6 5 |
| Abnormal peripheral nervous system physiology 0.3258383926289203 0.4928186733997604 0.6221407152001168 1.0 1.0 51 Q8TB36,P02545,P07602,O95831,Q9NR77,Q00796,Q99720,Q6UWE0,Q9Y619 9 |
| Increased hepatic glycogen content 0.4649284565826139 0.4900510250550058 0.6240977926948337 1.0 1.0 5 Q93100 1 |
| Tonic seizure 0.4231736933760804 0.4896795536038041 0.6243606724323969 1.0 1.0 26 Q5VIR6,P07602,Q01105,Q14746 4 |
| Flaring of rib cage 0.556445830468694 0.4888909887757013 0.6249188757192365 1.0 1.0 3 P16278 1 |
| Distal sensory impairment 0.318042900771206 0.4842261747403585 0.6282253627251841 1.0 1.0 46 Q8TB36,P02545,O15269,O95831,Q96RR1,Q9NR77,P18887,P54802,P07196,Q04656,Q6UWE0,O95140 12 |
| Abnormal uvula morphology 0.3529479558211974 0.4825850871455628 0.6293903699038514 1.0 1.0 39 Q69YQ0,P34897,Q6PGP7,P61978,Q15392,P38398,Q8N3U4,Q9BXW9,Q9Y619,O43505 10 |
| Chronic mucocutaneous candidiasis 0.4463288533540683 0.4812711082744726 0.6303238282730477 1.0 1.0 7 P02786,P42224 2 |
| Abnormality of visual evoked potentials 0.4391680347655776 0.4806753050740855 0.6307472850447844 1.0 1.0 20 O75503 1 |
| Abnormality of the helix 0.3659468226950835 0.4795684230995045 0.6315343040645474 1.0 1.0 37 P21964,P02545,Q69YQ0,O75844,Q5T8D3,Q7LGA3,P23786,Q96N67 8 |
| Aganglionic megacolon 0.4385733565120916 0.4775450435030932 0.6329740539722057 1.0 1.0 20 P21964,Q10713,P38398,P42892,Q04656,Q9BXW9 6 |
| Proximal amyotrophy 0.4469740017371967 0.4774736514721058 0.6330248789189159 1.0 1.0 14 P50402,P02545,Q8WXH0,P07196,O14979 5 |
| Furrowed tongue 0.4447712081899921 0.4747103914728696 0.6349934102287766 1.0 1.0 7 Q15437 1 |
| Cardiomegaly 0.3774436636960181 0.4732101964826128 0.6360632238929504 1.0 1.0 35 P04062,P04066,P54802,P10644,P10253,P23786 6 |
| Abnormal endocrine physiology 0.4600116225731988 0.4713921116763566 0.637360748100626 1.0 1.0 5 Q13423 1 |
| Severe demyelination of the white matter 0.5506238285591087 0.4711724390086864 0.6375175986941115 1.0 1.0 3 Q5H8A4 1 |
| Abnormal liver physiology 0.4423076254661668 0.4695924798313218 0.6386461984913401 1.0 1.0 6 Q9UDY2 1 |
| Freckling 0.4452079648412732 0.4691538237377946 0.638959688905675 1.0 1.0 14 P10644 1 |
| Hyperconvex nail 0.4444164501134825 0.4690265837093545 0.6390506344694828 1.0 1.0 8 Q9Y619,P42892 2 |
| Simple ear 0.4835199004975046 0.4678136590489763 0.6399178518662281 1.0 1.0 4 P16435,O60231,Q16531 3 |
| Unilateral renal agenesis 0.4292250979604746 0.4677445427341742 0.6399672835114538 1.0 1.0 23 Q9Y2V7,Q9UHX1,Q7LGA3,P10644,Q86XL3 5 |
| Telangiectasia of the skin 0.4396343712774188 0.4636671486740715 0.642886237155881 1.0 1.0 18 P02545,Q8IZA0,P06280,Q5VIR6 4 |
| Abnormal cry 0.4444759209049441 0.4634804475110488 0.6430200266456718 1.0 1.0 13 Q69YQ0,P11047 2 |
| Short ribs 0.4443553382937171 0.4632608119808022 0.6431774316245298 1.0 1.0 10 Q15427,Q96HY6,Q8WYA0,Q9Y619,Q8NCM8 5 |
| Milia 0.5478270638387039 0.4627600620149253 0.6435363612044962 1.0 1.0 3 P50336 1 |
| Centrally nucleated skeletal muscle fibers 0.4414038094222415 0.4528060799775968 0.6506883851785652 1.0 1.0 9 P06753,Q9BPX6,P50570 3 |
| Squamous cell carcinoma 0.4387811247815125 0.4521589734598816 0.6511544614667095 1.0 1.0 17 P02545,P53634,P53602,P78549,Q99828 5 |
| Hip osteoarthritis 0.7150403977625917 0.4500077998334806 0.6527048164851652 1.0 1.0 2 P01889 1 |
| Extrapyramidal muscular rigidity 0.4371507907889275 0.4484148846525884 0.653853801472108 1.0 1.0 6 Q9H6K4,Q9BPX6,Q9Y3Z3 3 |
| Recurrent paroxysmal headache 0.44095710226285 0.4469497109342775 0.6549113702525677 1.0 1.0 11 P10644 1 |
| Abnormality of skeletal muscle fiber size 0.4343768904010274 0.4455893516864462 0.65589390374778 1.0 1.0 19 P02545,O95831,Q9Y223,Q7Z406,Q9BPX6,Q96RR1 6 |
| Ankle clonus 0.4384773454047639 0.4449716415434857 0.6563402480344234 1.0 1.0 16 P07602 1 |
| Abnormal metatarsal morphology 0.4189660972525303 0.4445207569162543 0.6566661252076149 1.0 1.0 25 O95202,Q08J23,Q15392,Q13509,P10644,O43505 6 |
| Impaired visuospatial constructive cognition 0.4385771661061504 0.4443097308868854 0.6568186668584772 1.0 1.0 8 P03886 1 |
| Urticaria 0.4397037942785263 0.4429577948161584 0.657796262469571 1.0 1.0 10 P51648 1 |
| Nephrotic syndrome 0.411581555704275 0.442656082228843 0.6580145131949864 1.0 1.0 27 Q8NCH0,O95470,P06280,Q14108,P11047 5 |
| Vitritis 0.7122436295835842 0.4423826674618188 0.6582123192205529 1.0 1.0 2 P04439 1 |
| Spastic diplegia 0.4183731526322026 0.4411061617823453 0.6591361428855769 1.0 1.0 25 P51648,P07602,Q99720 3 |
| Abnormal choroid morphology 0.4110764867461855 0.4396182308415732 0.6602136343977039 1.0 1.0 27 Q10713,P52732,Q9Y619,O43505,P40855 5 |
| Absence of the sacrum 0.7097576134244936 0.4356577252338984 0.6630850820609395 1.0 1.0 2 Q9ULK5 1 |
| Maternal diabetes 0.7097576134244936 0.4356577252338984 0.6630850820609395 1.0 1.0 2 Q9ULK5 1 |
| Asymmetry of spinal facet joints 0.7097576134244936 0.4356577252338984 0.6630850820609395 1.0 1.0 2 Q9ULK5 1 |
| Cardiac arrest 0.3878925453392955 0.4315410411676066 0.66607501770204 1.0 1.0 32 P50402,P02545,Q8WXH0,O15460,Q15056,P04062,Q9Y4P3,O95677,O43772 9 |
| Abnormal retinal vascular morphology 0.3193953599914957 0.4304750679228083 0.6668500991693869 1.0 1.0 51 P21964,P07602,P04439,Q9Y4P3,P10619,Q15056,P06865,P17900,P38435,O00192,P16278,P03886,Q96S66 13 |
| Motor neuron atrophy 0.4245462386658043 0.4275268752356349 0.6689956144964231 1.0 1.0 22 Q99720 1 |
| Aplasia cutis congenita of scalp 0.4331798336001489 0.4265821166135071 0.669683725601099 1.0 1.0 7 Q5H8A4,Q15149,O95202 3 |
| Pelvic girdle muscle weakness 0.4340193112666152 0.4252412090307723 0.6706608462934058 1.0 1.0 8 P06753,Q9Y223,O14979 3 |
| Cerebellar cortical atrophy 0.7041640770665079 0.4207119362668908 0.6739654440020322 1.0 1.0 2 Q9Y263 1 |
| Rapidly progressive 0.4348934093873717 0.4202965911683977 0.6742687998283665 1.0 1.0 11 Q14108 1 |
| Vertical supranuclear gaze palsy 0.4346908263666291 0.4185593828799759 0.6755381790998642 1.0 1.0 12 O15118 1 |
| Hypergonadotropic hypogonadism 0.4337292739652881 0.4183358386772165 0.6757015901185326 1.0 1.0 15 Q16740,P02545,Q9BXW9 3 |
| Limb muscle weakness 0.3628084039720003 0.4179201722906082 0.6760054832535887 1.0 1.0 85 Q8TB36,Q13126,P02545,Q7Z406,P06753,P50402,Q9NR77,Q9Y223,Q15149,Q99720,O95140,Q9BQT8,O15269,Q8WXH0,Q12768,Q00796,P50570,P07196,P21359,P35670,Q969X5,Q8N0X7,P50336,Q6UWE0,Q96RR1 25 |
| Hydrocephalus 0.3499547559850806 0.4173455175936948 0.6764256994670239 1.0 1.0 75 Q9Y2V7,P30153,P21964,Q10713,Q08J23,P04062,Q12768,Q15392,P38398,Q8N3U4,Q13509,P10644,P23786,Q9BXW9,O00754,O43505,P40855 17 |
| Cystic hygroma 0.4308857758538516 0.4172104131792786 0.676524509200428 1.0 1.0 7 Q53EZ4,P61978 2 |
| Vertebral hypoplasia 0.4343532599632393 0.4170618951712002 0.6766331355033777 1.0 1.0 12 P10644,P16278,Q6NUQ1 3 |
| Multiple joint contractures 0.4244080838065887 0.4144751201403431 0.6785261842611705 1.0 1.0 21 P02545,O75844 2 |
| High pitched voice 0.4333373506237286 0.4135161365950439 0.6792285022956479 1.0 1.0 11 O75844 1 |
| Venous thrombosis 0.4334810008202278 0.4133476004347372 0.6793519596786264 1.0 1.0 13 P10644,P52732 2 |
| Occipital meningocele 0.429194380767768 0.4103349947945123 0.6815602245291152 1.0 1.0 7 P21964,Q10713 2 |
| Paralysis 0.3199534496386077 0.4096557101669434 0.6820585237605754 1.0 1.0 53 P02545,Q9NR77,P04062,P17900,Q9NP58,P10253,Q15165 7 |
| Intestinal polyp 0.4254619854208481 0.4093956854540903 0.6822493054281227 1.0 1.0 20 P42892,Q15437,Q04656 3 |
| Sideroblastic anemia 0.4311136702570198 0.4091381596437594 0.6824382736546819 1.0 1.0 9 P38398,O76024 2 |
| Coarse facial features 0.3355814538382701 0.4052478227983626 0.6852953555904215 1.0 1.0 65 O95831,P10619,Q9Y223,Q15056,P04066,P54802,P38398,P34059,Q7LGA3,Q8TAQ2,Q9Y4P3,O00754,P06280,P16278 14 |
| Skin pit 0.4308065798236701 0.4046968737461892 0.685700340447279 1.0 1.0 15 Q69YQ0,O95202,Q07954,P61978,Q8N3U4,Q99828 6 |
| Red eye 0.4262883119149737 0.4046423382105827 0.6857404326721057 1.0 1.0 19 Q10567,P02786,Q9NZ08 3 |
| Basal cell carcinoma 0.4313568563056132 0.4038213348440373 0.6863441065682065 1.0 1.0 12 P02545,Q99828 2 |
| Portal fibrosis 0.4639303482586983 0.4030320097056278 0.6869246765863775 1.0 1.0 4 Q9H3U1,P55263,P06737 3 |
| Abnormality of dental eruption 0.3273126126970708 0.402609248525567 0.6872357048677578 1.0 1.0 59 P02545,Q08J23,O75844,P10644,Q9Y487 5 |
| Vascular skin abnormality 0.4011474049079204 0.4022737701003981 0.6874825563099471 1.0 1.0 118 P22830,Q13126,P02545,P51648,Q6P1M0,P38435,Q5VIR6,Q14108,Q9Y487,P04066,Q99828,Q04656,P06280,Q8NCH0,O75844,Q15437,P10644,P35670,P03886,P10619,Q08J23,P04062,Q8IZA0,P16278 24 |
| Short clavicles 0.4294485745564008 0.4021726271371014 0.6875569857743549 1.0 1.0 9 O75844 1 |
| Dysdiadochokinesis 0.4302496702324141 0.4021083234680637 0.6876043073746505 1.0 1.0 15 O75503,Q9UBB4,P18887,Q6DKK2 4 |
| Abnormality of pain sensation 0.4114622973496811 0.4015905994120206 0.6879853493471646 1.0 1.0 25 Q13045,O95831,Q8NCH0,Q9NR77,P61978,Q00796,P07196,O95140 8 |
| Follicular hyperkeratosis 0.42798798439164 0.400328901035657 0.6889142838571056 1.0 1.0 8 Q6P1M0,Q9NWM8,Q14574 3 |
| Hyperextensible skin 0.4298784494074781 0.3971872706328529 0.6912293683797175 1.0 1.0 13 Q8NCH0,Q9UHX1,P04062,Q04656 4 |
| Preaxial foot polydactyly 0.4617799751094597 0.3961588850054418 0.69198782025117 1.0 1.0 4 Q9ULC3,O95202 2 |
| Neoplasm of the skeletal system 0.3356724826795135 0.3959235574802006 0.6921614217765937 1.0 1.0 40 P10644,Q13126 2 |
| Abnormality of the achilles tendon 0.4291395099281688 0.3948257459916108 0.6929714928336137 1.0 1.0 14 P50402,P02545,Q8WXH0,Q08J23,Q15149,Q8TD16 6 |
| Mandibular prognathia 0.3481780867757362 0.3901290199433603 0.696441144838805 1.0 1.0 38 Q9UHX1,P52732,Q8N3U4,P34059,P10644,O00754,P16278,P11047 8 |
| Distal amyotrophy 0.3257945780418366 0.3882198711430693 0.6978533291073847 1.0 1.0 59 Q8TB36,P02545,O15269,Q9BQT8,Q9NR77,Q9Y223,Q7Z406,Q8N0X7,P50570,Q99720,Q04656,P07196,Q8TD16,P06753,Q6UWE0,O95140 16 |
| Abnormality of the tongue 0.3619697922462738 0.386863894265779 0.6988569720910298 1.0 1.0 87 P02545,O95831,P40855,Q10713,Q9NQT5,O15460,Q15056,P04066,Q9BQT8,O75844,Q15437,Q05086,Q7LGA3,Q9Y4P3,Q8NCM8,P61978,P16278,P10253,O00754 19 |
| Short long bone 0.3762765709926012 0.3867653031325908 0.6989299660884463 1.0 1.0 33 P38398,Q96HY6,Q9UHX1,O00116,Q04656,P16278,P10644,Q9BXW9,Q8NCM8 9 |
| Localized osteoporosis 0.6901802361715426 0.3845076237589418 0.7006022464576049 1.0 1.0 2 P57740 1 |
| Proximal femoral metaphyseal irregularity 0.5200497357786809 0.382977287716416 0.701736604369998 1.0 1.0 3 Q9Y3A5,Q5F1R6 2 |
| Proximal femoral metaphyseal abnormality 0.5200497357786809 0.382977287716416 0.701736604369998 1.0 1.0 3 Q9Y3A5,Q5F1R6 2 |
| Abnormality of the costochondral junction 0.5200497357786809 0.382977287716416 0.701736604369998 1.0 1.0 3 Q9Y3A5,Q5F1R6 2 |
| Enlargement of the costochondral junction 0.5200497357786809 0.382977287716416 0.701736604369998 1.0 1.0 3 Q9Y3A5,Q5F1R6 2 |
| Congenital hip dislocation 0.4081226636064647 0.382692329108705 0.7019479027658564 1.0 1.0 25 Q9Y487 1 |
| Restlessness 0.3470236355963757 0.3810214012616159 0.7031873683230452 1.0 1.0 38 P10644,P05067,Q15165,P42892 4 |
| Proximal muscle weakness in lower limbs 0.4157805392163224 0.3807970644116754 0.7033538377116673 1.0 1.0 22 P50402,P02545,Q8WXH0,Q96RR1,Q00796,P50570,P07196,P35670,O95140 9 |
| Malabsorption 0.3154034674788468 0.3791814796074693 0.7045531036239969 1.0 1.0 52 Q9NZ08,Q08J23,P09601,P14174,Q15056,O76024,Q04656,Q9UDY2,P06280,Q14566,P40855 11 |
| Increased female libido 0.6880049720323067 0.3790294368753468 0.7046660044498478 1.0 1.0 2 Q9BZH6 1 |
| Non obstructive azoospermia 0.6880049720323067 0.3790294368753468 0.7046660044498478 1.0 1.0 2 Q9BZH6 1 |
| Hypothalamic gonadotropin releasing hormone deficiency 0.6880049720323067 0.3790294368753468 0.7046660044498478 1.0 1.0 2 Q9BZH6 1 |
| Frequent falls 0.3402751138904009 0.3784880556809364 0.7050680651949484 1.0 1.0 39 Q9NZJ7,Q69YN2,P07602,Q92974,Q96RR1,Q9NR77,Q15149,Q6Y7W6,O95140,P04062,Q96QK1,Q13510,P06753,P11047 14 |
| Coxa valga 0.4128109826617192 0.3777985922813392 0.7055802195513452 1.0 1.0 23 P02545,O75844,P04066,P34059,P16278,Q9Y619,O00754 7 |
| Cortical dysplasia 0.3843348820371292 0.3764234422712262 0.706602120985979 1.0 1.0 31 Q9UBB6,O00139,P07437,Q08J23,Q14139,Q96C86,Q13509,Q96PU5,O43505 9 |
| Prominent antitragus 0.686140459912997 0.3743675626504875 0.7081308725025979 1.0 1.0 2 Q92643 1 |
| Myotonia 0.4215683746972002 0.3742387792078716 0.7082266750685575 1.0 1.0 8 P50402,P02545,Q8WXH0 3 |
| Hypohidrosis 0.4234783626850672 0.3738296209335289 0.7085310803298452 1.0 1.0 10 P06280 1 |
| Neuroendocrine neoplasm 0.4226488295006676 0.370371907004305 0.7111054028113171 1.0 1.0 10 P10644 1 |
| Insulin resistance 0.4202678549803807 0.3679292796231388 0.7129259672932269 1.0 1.0 18 P02545,Q03252,O76024,O75844,Q9UKG1,P31751,O95140 7 |
| Abnormality of hepatobiliary system physiology 0.3522212224487306 0.3668795995842392 0.7137088291625919 1.0 1.0 81 P22830,Q8N511,Q10713,O15460,P04062,P40855,Q9Y619,O15118,P35670,P23786,P22695,P03886,O43772 13 |
| Neoplasm of the thyroid gland 0.4040206569185062 0.3596696550386967 0.7190941872184862 1.0 1.0 25 P02545,Q15437,P42892,Q04656,P10644 5 |
| Intestinal pseudo obstruction 0.4211515808937733 0.3594624218596328 0.7192491847833093 1.0 1.0 12 P03886,P38398,P61978,Q96RR1 4 |
| Abnormal sensory nerve conduction velocity 0.4142266094915418 0.3574957031989393 0.7207207423180355 1.0 1.0 6 Q9NR77,O95140 2 |
| Abnormality of the menstrual cycle 0.3157925969227759 0.3571714885736785 0.7209634288732063 1.0 1.0 54 P10644,Q16740,O75844,P35670 4 |
| Abnormal blood sodium concentration 0.4184205479464265 0.3568066385132691 0.7212365661522826 1.0 1.0 9 P50336,Q13423 2 |
| Peptic ulcer 0.4198410530065778 0.3558052058470961 0.7219864501880897 1.0 1.0 11 Q15056,O76024,P04062 3 |
| Aplasia hypoplasia involving bones of the feet 0.3401506967708587 0.3501490766709687 0.7262268214044127 1.0 1.0 73 P02545,Q69YQ0,Q08J23,Q5H8A4,Q9UHX1,Q7LGA3,P10644,Q9NX62,Q13555,Q8NCM8 10 |
| Severe muscular hypotonia 0.3885461434875291 0.3496869243169389 0.7265736677741352 1.0 1.0 29 P02545,O95831,Q5H8A4,Q8TD16,O43505,P40855 6 |
| Beaking of vertebral bodies 0.4160702588638296 0.3473195886418417 0.7283512360930784 1.0 1.0 9 P16278 1 |
| Long palm 0.506699824593561 0.3472783210655079 0.7283822357916283 1.0 1.0 3 P52788 1 |
| Ectopic kidney 0.4162829113547259 0.3439591993851534 0.7308769701982138 1.0 1.0 17 Q69YQ0,Q9BXW9,Q15056,Q9UHX1 4 |
| Abnormal clavicle morphology 0.4124235091438251 0.3434944825538428 0.7312264909110064 1.0 1.0 20 P02545,Q9Y619,O75844 3 |
| Syncope 0.4158836925200075 0.3424746788079393 0.7319936965545863 1.0 1.0 10 P02545 1 |
| Type i diabetes mellitus 0.4170254040741211 0.3418715815721215 0.7324475370686061 1.0 1.0 12 P00403,Q13043,Q96J02,P03886,P42224 5 |
| Bilateral tonic clonic seizure with generalized onset 0.4146360537546168 0.3415632079527136 0.732679629418596 1.0 1.0 9 Q5VIR6,P04062 2 |
| Heterotaxy 0.4092952468023095 0.3387043777290041 0.7348324424554371 1.0 1.0 6 Q5H8A4 1 |
| Hyperkinetic movements 0.4161304597082247 0.3380838215967803 0.7353000219673607 1.0 1.0 12 P07602 1 |
| Decreased number of peripheral myelinated nerve fibers 0.4155969435777282 0.3373815302364705 0.7358293060521786 1.0 1.0 16 Q8TB36,P02545,O15269,Q9NR77,P07196,O95140 6 |
| Ovarian cyst 0.4124012807773665 0.3360671882565529 0.7368202008393547 1.0 1.0 19 P02545,Q9Y4P3,Q03252,Q15056,Q15437,P78549,P10644 7 |
| Photopsia 0.5023313646254336 0.3359989443248087 0.7368716625502969 1.0 1.0 3 O75533,Q99496 2 |
| Inferior lens subluxation 0.5023313646254336 0.3359989443248087 0.7368716625502969 1.0 1.0 3 O75533,Q99496 2 |
| Metamorphopsia 0.5023313646254336 0.3359989443248087 0.7368716625502969 1.0 1.0 3 O75533,Q99496 2 |
| Uveal melanoma 0.5023313646254336 0.3359989443248087 0.7368716625502969 1.0 1.0 3 O75533,Q99496 2 |
| Choroidal melanoma 0.5023313646254336 0.3359989443248087 0.7368716625502969 1.0 1.0 3 O75533,Q99496 2 |
| Mydriasis 0.5023313646254336 0.3359989443248087 0.7368716625502969 1.0 1.0 3 O75533,Q99496 2 |
| Heterochromia iridis 0.502331364625433 0.3359989443248066 0.7368716625502985 1.0 1.0 3 Q8IY17,O95163 2 |
| Abnormal epiglottis morphology 0.441366844820485 0.3334924025637492 0.7387626234277538 1.0 1.0 4 Q13510,Q8NCM8 2 |
| Clonus 0.3681149130741104 0.3313343119543678 0.7403919764355984 1.0 1.0 33 P07602,Q9Y619,Q15043,Q99720 4 |
| Coxa vara 0.4145433227619393 0.3297517200293736 0.7415875704840049 1.0 1.0 14 Q04656,Q9Y487,O95831,O75718 4 |
| Recurrent bacterial infections 0.4095832899033819 0.3294202834774392 0.7418380385850871 1.0 1.0 20 O00165,O00754,P53634,Q15904 4 |
| Peripheral axonal degeneration 0.3351006811025624 0.3274177324616447 0.743351956371912 1.0 1.0 71 Q8TB36,P02545,Q9NZJ7,O95831,O76024,Q9BPX6,P07602,Q13509,Q9BQT8,O95140,O15269,Q8IV08,P50570,P07196,Q8NF91,P03886,P34897,Q6DKK2,Q53GS7,Q6UWE0,Q96RR1 21 |
| Conspicuously happy disposition 0.666563082660023 0.3273521691860362 0.7434015386716704 1.0 1.0 2 P55795 1 |
| Aplasia hypoplasia of the palmar creases 0.497468785175341 0.3236850528189743 0.7461764882734805 1.0 1.0 3 Q8NCH0 1 |
| Sarcoma 0.3198862916284151 0.3202058108697664 0.7488123184874433 1.0 1.0 60 P10644,Q15392,Q13126 3 |
| Dilated cardiomyopathy 0.3391832068043257 0.3197525967692066 0.7491558847290691 1.0 1.0 38 P02545,P13473,O75306,Q8WXH0,P23786,P42166,P57740,Q16836,P03886,P06753,O95677,P16278,Q96RR1 13 |
| Wrist flexion contracture 0.4041964869315639 0.3195907996327399 0.7492785497159558 1.0 1.0 6 Q13509 1 |
| Omphalocele 0.411572610177914 0.3173735210058137 0.7509601966317723 1.0 1.0 13 Q9ULC3,Q69YQ0,Q8WYA0,Q8NCM8 4 |
| Facial capillary hemangioma 0.6615910503418356 0.3159912536181987 0.7520091468730767 1.0 1.0 2 P16435 1 |
| Myelopathy 0.4938683052110919 0.3147340356603228 0.7529635998507069 1.0 1.0 3 P16278 1 |
| Lower limb muscle weakness 0.3050938933649207 0.3143633372552239 0.753245098320557 1.0 1.0 43 P02545,Q9NR77,Q9Y223,Q7Z406,Q15149,Q12768,Q8NF91,Q00796,Q8N0X7,P07196,P21359,Q13510,P06753,Q969X5,O95140 15 |
| Capillary malformation 0.4108066057851318 0.3140032181353369 0.7535185945790821 1.0 1.0 15 Q9UHX1,Q15056 2 |
| Difficulty running 0.4100706535716042 0.3127050583918371 0.7545047521348378 1.0 1.0 12 Q8TD16,P06753,Q9BPX6,P07196 4 |
| Hypoplasia of teeth 0.4025005505324171 0.3118037289208522 0.755189689966169 1.0 1.0 22 Q9Y2V7,P02545,Q15149,O75844,Q01968,P51648 6 |
| Aplasia hypoplasia of the tibia 0.4337860937300455 0.3114836592359474 0.7554329635051069 1.0 1.0 4 Q8NCM8 1 |
| Abnormality of fontanelles 0.298530692365785 0.3096213425040803 0.7568489243688883 1.0 1.0 45 P02545,O75718,Q08J23,Q8NCH0,O75844,Q32P28,Q9Y619,Q9Y487,P40855 9 |
| Brain neoplasm 0.4917625116568329 0.3095655951203714 0.7568913229573007 1.0 1.0 3 P28340,P21359 2 |
| Convex nasal ridge 0.4036784979913265 0.3083282156089501 0.7578325982213183 1.0 1.0 21 P02545,O75844,O95202,Q04656 4 |
| Abnormality of the inner ear 0.4061879295136772 0.3081808408423991 0.7579447302488473 1.0 1.0 9 P10644 1 |
| Abnormal sputum 0.413747627137376 0.3081480270781694 0.7579696977258152 1.0 1.0 5 Q9NZ08 1 |
| Neuropathic arthropathy 0.4908299658066621 0.3072926236360538 0.758620649747578 1.0 1.0 3 O15269,O95163 2 |
| Abnormal toenail morphology 0.2982565173555673 0.3070295102255258 0.7588209104124246 1.0 1.0 45 P02545,Q08J23,Q15056,O75844,P52732,Q8TAQ2,P23786 7 |
| Axonal regeneration 0.4320398762112696 0.3065164799577063 0.7592114341078673 1.0 1.0 4 Q8TB36 1 |
| Increased circulating acth level 0.6572405220634019 0.3062487937608855 0.7594152238673488 1.0 1.0 2 P16435 1 |
| Proportionate tall stature 0.6572405220633989 0.3062487937608794 0.7594152238673535 1.0 1.0 2 P21359 1 |
| Progressive spasticity 0.4084325656898731 0.3035740124234333 0.7614524528224209 1.0 1.0 15 P07602 1 |
| Fever 0.347682328633931 0.3021923571816742 0.7625054301421981 1.0 1.0 83 Q9Y2V7,P07602,Q9NZ08,P28070,P14174,Q9NR77,O15460,Q9UBC1,P10644,P03886,P06280,P10253,P23786 13 |
| Intractable diarrhea 0.4883173788425436 0.3012172779200238 0.7632488154354455 1.0 1.0 3 Q6PGP7 1 |
| Abnormal morphology of myocardial trabeculae 0.4294154228855632 0.2991248303847965 0.7648448012339104 1.0 1.0 4 Q99797,P14923,Q15233 3 |
| Abnormality of the calf musculature 0.4073825263696553 0.2988065432926836 0.7650876580859347 1.0 1.0 14 P02545,Q9NR77 2 |
| Restless legs 0.4278673227356208 0.29480659541304 0.7681416278324824 1.0 1.0 4 Q709C8,P07196 2 |
| Renal dysplasia 0.4060290778248817 0.2940411973034484 0.7687264232151598 1.0 1.0 13 Q53EZ4,Q15149,Q8NCM8,O43505 4 |
| Abnormality of circulating glucocorticoid level 0.4035870906043358 0.2932370828365038 0.769340941252417 1.0 1.0 10 P10644 1 |
| Diaphyseal thickening 0.4849238420889128 0.2931257360422502 0.7694260458092486 1.0 1.0 3 Q14739,O15357 2 |
| Sloping forehead 0.2980396575761024 0.2921089730969783 0.7702033062070957 1.0 1.0 46 Q08J23,P38398,P52732,Q8N3U4,P23786,Q9H267,Q86XL3 7 |
| Emg neuropathic changes 0.3888498377689314 0.291632935739827 0.7705672904741276 1.0 1.0 26 Q8TB36,P07602,Q9NR77,Q8NF91,O14773,Q04656,Q13510,Q969X5,O95140 9 |
| Acne inversa 0.4265181363434017 0.2910688007810981 0.7709987007193293 1.0 1.0 4 Q92542 1 |
| Episodic pain 0.4052215991816609 0.29067786556804 0.7712977016973337 1.0 1.0 13 Q9Y223,P23786 2 |
| Peritonitis 0.4053501644002344 0.2901495228057453 0.7717018507790001 1.0 1.0 15 Q8N1F7,Q9BW27,Q8NFH4,P38398,P57740,O43707 6 |
| Abnormal lung lobation 0.4053386314137324 0.2901024153423342 0.7717378880444921 1.0 1.0 14 P21964,Q9UHX1 2 |
| Abnormality of the vasculature of the eye 0.3347247046560402 0.2884745194765525 0.7729835323848779 1.0 1.0 74 P38435,O00192,P07602,Q15056,P04066,P02786,P06280,Q9NZ08,Q10567,P17900,Q9Y4P3,Q96S66,P03886,P21964,P04439,P34897,P10619,P28070,P06865,P16278 20 |
| Morphological abnormality of the pyramidal tract 0.4010265130449573 0.2876925686583045 0.7735820789985404 1.0 1.0 20 O95831,Q9H9P8,Q9UBB4,Q15056,Q12768,Q9Y4P3,Q9Y619 7 |
| Neoplasm of the liver 0.3289387616815025 0.2875692896600214 0.773676455577347 1.0 1.0 39 Q10713,P38398,P11717,Q9UKG1,P35670,Q9UDY2,P10644 7 |
| Abnormality of the cheek 0.3161245035385246 0.2853274175861594 0.7753933093083034 1.0 1.0 60 P02545,Q69YQ0,O95202,Q12768,Q9UHX1,P52732,Q8N3U4,Q04656,Q9Y487 9 |
| Intracranial hemorrhage 0.390244888723131 0.284054972133118 0.7763682532061491 1.0 1.0 25 P05067,O75844,P04062,P23786 4 |
| Blepharophimosis 0.300891721376223 0.2806390408485712 0.7789872686015133 1.0 1.0 49 P02545,Q08J23,Q15056,O75844,P38398,Q7LGA3,Q9Y4P3,Q9BXW9,Q9Y619 9 |
| Delayed closure of the anterior fontanelle 0.402318247425491 0.278661123735187 0.7805048998663118 1.0 1.0 13 Q9Y487,P40855 2 |
| Thick upper lip vermilion 0.3981338639502162 0.2772389951802472 0.7815965988500804 1.0 1.0 9 Q08J23 1 |
| Abnormality of somatosensory evoked potentials 0.4780851725209876 0.2772231839096988 0.7816087388177249 1.0 1.0 3 P20700,Q9ULM3 2 |
| Acute lymphoblastic leukemia 0.4020582841716817 0.276774058848973 0.7819536013574706 1.0 1.0 16 Q08J23 1 |
| Abnormal rib cage morphology 0.3370923599610746 0.2751228361057907 0.7832218676444962 1.0 1.0 77 P02545,O95831,Q5H8A4,O75844,P04066,P54802,Q32P28,Q12768,Q9UHX1,P34059,Q8NCM8,O00754,Q9Y619,P16278 14 |
| Perisylvian polymicrogyria 0.4031104199066768 0.274319801236374 0.7838388687761229 1.0 1.0 5 P42345,Q15042,P34897,P42356 4 |
| Broad nasal tip 0.3002082133295971 0.2742653313128136 0.7838807249424384 1.0 1.0 49 Q9UHX1,P52732,Q7LGA3,P10644,P16278,Q9Y487 6 |
| Unusual fungal infection 0.3985063684837518 0.2734898639772745 0.7844766828359775 1.0 1.0 10 O14920,P02786,P42224 3 |
| Dilation of virchow robin spaces 0.6417029210689962 0.272998785858798 0.7848541488831628 1.0 1.0 2 P27635 1 |
| Scaphocephaly 0.4185679159685044 0.2695358361747818 0.7875173689528083 1.0 1.0 4 P40855 1 |
| Secundum atrial septal defect 0.41679458652085 0.2648495739655848 0.7911253455694531 1.0 1.0 4 P34897 1 |
| Colitis 0.3944483943234166 0.2633851849697555 0.7922537082841239 1.0 1.0 9 Q13043,Q15833,P42224,Q6PGP7 4 |
| Abnormality of vitamin k metabolism 0.3880216869016941 0.2612442704444015 0.7939041402437665 1.0 1.0 6 Q9UDY2 1 |
| Bilateral external ear deformity 0.4709356543363463 0.2611852912045022 0.7939496204672263 1.0 1.0 3 P15924,P14923 2 |
| Hyposmia 0.3983613089450363 0.2606808485352787 0.7943386362045057 1.0 1.0 16 Q15043,P04062,Q6Y7W6,Q9BZH6,Q709C8 5 |
| Abnormal right ventricle morphology 0.3936443956457815 0.2603892621264143 0.7945635249412955 1.0 1.0 9 Q9H267,P11047 2 |
| Tibial torsion 0.6354878806712341 0.2603881003276647 0.7945644210235798 1.0 1.0 2 P26196 1 |
| Edema of the dorsum of hands 0.6354878806712271 0.2603881003276511 0.7945644210235903 1.0 1.0 2 Q9Y263 1 |
| Edema of the dorsum of feet 0.6354878806712271 0.2603881003276511 0.7945644210235903 1.0 1.0 2 Q9Y263 1 |
| Reduced forced vital capacity 0.4149976957316086 0.2601452056262311 0.7947517689208672 1.0 1.0 4 Q9BQT8 1 |
| Dyslexia 0.3896669779022687 0.2592299397071171 0.7954578319021579 1.0 1.0 7 Q01082,Q96T60,P48506,P46821,Q9H6K4,Q9UQN3 6 |
| Juvenile aseptic necrosis 0.397785065117807 0.257982160351965 0.7964206752973966 1.0 1.0 5 Q9Y619 1 |
| Abnormal circulating glutamine family amino acid concentration 0.3892195922174754 0.2576385335973066 0.7966858878548442 1.0 1.0 7 Q9P0J1 1 |
| Aplasia hypoplasia affecting the fundus 0.3851839117308309 0.2570095656530909 0.7971713887303398 1.0 1.0 25 P30153,P61978,Q9BZH6,Q9UHX1,Q8N3U4,Q13509,Q9Y6N7 7 |
| Urinary bladder sphincter dysfunction 0.3927144173278323 0.2569358431407669 0.7972283003409508 1.0 1.0 9 Q9NR77 1 |
| Abnormal natural killer cell physiology 0.6336233685519052 0.2566829080585547 0.797423566975437 1.0 1.0 2 Q15833 1 |
| Abnormal platelet granules 0.6336233685519025 0.2566829080585492 0.7974235669754413 1.0 1.0 2 Q86YV9 1 |
| Ureterocele 0.4684488654025595 0.2557499326052138 0.7981439363333382 1.0 1.0 3 Q96T60,Q15149 2 |
| Hypokinesia 0.3971023585014256 0.2556401349146713 0.7982287246846949 1.0 1.0 14 P13473,O95831,P04062,P06753,Q96RR1 5 |
| Aplasia hypoplasia of the humerus 0.3923568971319182 0.2556116402893369 0.7982507292915699 1.0 1.0 9 O00116,Q04656 2 |
| Sudden death 0.3757895299081429 0.2530414270248657 0.8002362005083976 1.0 1.0 28 P50402,P02545,Q8WXH0,O15460,Q15056,P01130,O43572,Q9Y4P3,O95677,Q8NF91,P01889 11 |
| Diminished movement 0.3886591736382286 0.2517054482561125 0.8012687454635938 1.0 1.0 23 P13473,O95831,Q6Y7W6,P04062,Q99567,Q709C8,P06753,Q96RR1 8 |
| Facial shape deformation 0.3956144218600949 0.2514414098149435 0.8014728553999859 1.0 1.0 5 O00754 1 |
| Recurrent fever 0.3960733287671175 0.2514059809441361 0.8015002440517194 1.0 1.0 14 Q9Y2V7,Q01082,P28070,Q9NR77,P61978,Q13510 6 |
| Iris coloboma 0.3560215643417516 0.2512368044542887 0.8016310310344483 1.0 1.0 33 Q5H8A4,Q9UHX1,Q10713,O43505 4 |
| Round face 0.3933556019038555 0.25121285945137 0.8016495428895827 1.0 1.0 20 P10644,P02545,Q69YQ0,Q32P28 4 |
| Coarse hair 0.3915087396881899 0.248791773963012 0.8035218545092775 1.0 1.0 21 Q9Y487 1 |
| Holoprosencephaly 0.3929573075724598 0.2476457844481518 0.8044084830054286 1.0 1.0 11 Q9UBM7,O60566,O94979,Q9ULK5,O43684,Q96J42,Q8N3U4,Q15645,Q92917,Q14683 10 |
| Sensory axonal neuropathy 0.3950882962011677 0.2464579275495154 0.80532776903997 1.0 1.0 15 P34897,O95831,Q96RR1,Q8IV08,O95140 5 |
| Oligohydramnios 0.3404342259544797 0.2450407314363165 0.8064248934165119 1.0 1.0 36 P38398,Q53EZ4,Q9UHX1,Q7LGA3,P23786,P49366 6 |
| Abnormality of the coagulation cascade 0.3173716365201039 0.24499596536968 0.8064595553498566 1.0 1.0 40 P10644,P51571,Q9Y223,Q9Y487 4 |
| Spina bifida occulta 0.3920307977583374 0.2401946102465063 0.8101793917985296 1.0 1.0 19 Q08J23,Q9UHX1,Q15056 3 |
| Cutaneous abscess 0.4067600554632995 0.2391565171765926 0.8109842186311729 1.0 1.0 4 P53634 1 |
| Bone cyst 0.406743793363578 0.2391160333833221 0.8110156095077579 1.0 1.0 4 Q15437 1 |
| Renal duplication 0.3855828625447729 0.2375110483377037 0.812260349060449 1.0 1.0 8 Q9Y4P3,Q9BXW9,Q15056 3 |
| Microscopic hematuria 0.4056190390553779 0.2363251957225999 0.8131803372155249 1.0 1.0 4 Q03252 1 |
| Progressive gait ataxia 0.3898523073693589 0.235821316561288 0.813571326371787 1.0 1.0 11 O14773,P07602,Q05086 3 |
| Onycholysis 0.3901900043806951 0.2354034687450217 0.8138955940464283 1.0 1.0 5 P10321 1 |
| Limb tremor 0.3802592092083477 0.2345760238854238 0.8145378205174398 1.0 1.0 6 Q9NR77,Q05086 2 |
| External ear malformation 0.3912590262952096 0.2305711303142113 0.8176479979816511 1.0 1.0 15 Q8NCH0,P38398,P40855 3 |
| Sudden loss of visual acuity 0.6174642635177232 0.2260981840718667 0.8211250569257953 1.0 1.0 2 O00170 1 |
| Color vision defect 0.3894980569442932 0.222969466694128 0.8235592703560866 1.0 1.0 16 O00429,Q8WWV3,Q9BZH6,A2RRP1,Q6P4Q7,Q9H061,Q709C8,O95140 8 |
| Cranial hyperostosis 0.3878956938409825 0.2208414289445443 0.8252159042433085 1.0 1.0 13 P10644,Q15043 2 |
| Nephrolithiasis 0.3860481070474462 0.217352843230984 0.8279333783225191 1.0 1.0 20 Q4J6C6,P35670,Q8NCH0,Q15056 4 |
| Hypoplastic hippocampus 0.6124922311995131 0.2172433089720659 0.8280187348382038 1.0 1.0 2 Q96RL7 1 |
| Bilateral sensorineural hearing impairment 0.3745756679439794 0.214318715803144 0.8302985240058784 1.0 1.0 26 P03886,P07602,Q7Z406,Q13509 4 |
| Abnormal conus terminalis morphology 0.3786818687168973 0.2134164365909953 0.8310021612639253 1.0 1.0 8 Q5H8A4 1 |
| Abnormal bleeding 0.3643309955113964 0.2107901936970788 0.833050990923049 1.0 1.0 105 Q9Y2V7,Q13126,P02545,O76024,P38435,Q96PU5,Q14108,Q9Y487,O15460,Q9UHX1,Q04656,Q9NZ08,Q8NCH0,P05067,O75844,P10644,P35670,P04062,P11117,Q9H267,P23786 21 |
| Heat intolerance 0.3948757130760941 0.2105927570119543 0.8332050646367373 1.0 1.0 4 Q05086 1 |
| Mild global developmental delay 0.385878181196935 0.2097934856743841 0.8338288576054182 1.0 1.0 18 P10644 1 |
| Calvarial skull defect 0.3790826905501935 0.207844860534423 0.835350103763763 1.0 1.0 9 Q5H8A4,Q15149,O95202 3 |
| Bradykinesia 0.3778700286053166 0.2076115973127689 0.835532248324077 1.0 1.0 24 Q15043,P04062,Q6Y7W6,Q6DKK2,Q96IX5,Q709C8,P06753,Q96RR1 8 |
| Abnormal neuron morphology 0.3676168178870587 0.207091163183405 0.8359386632677923 1.0 1.0 28 Q99720 1 |
| Semilobar holoprosencephaly 0.3921019900497437 0.2042250773609096 0.8381776154090761 1.0 1.0 4 O94979,Q8N3U4,Q14683 3 |
| Blindness 0.3328959374895627 0.2036244593720562 0.8386469777649532 1.0 1.0 80 P07602,P06865,P52732,P17900,O43676,P50897,O43505,P11047,P16278,P03886 10 |
| Decreased circulating antibody level 0.2869472287695696 0.2018400750452808 0.8400417508999691 1.0 1.0 45 Q9Y2V7,P09601,P14174,O14920,P02786,Q15904,Q96J02,O00754 8 |
| Muscle spasm 0.3055895671545043 0.2013482270485685 0.8404262949149948 1.0 1.0 59 P13473,Q5H8A4,Q9NR77,P04062,Q9NP58,P53985,P06280,Q15165,P23786 9 |
| Short foot 0.3562821623453839 0.2009063280653202 0.8407718195212484 1.0 1.0 31 Q9NX62,Q13555,Q8NCM8,Q08J23 4 |
| Exercise intolerance 0.3481322039820371 0.2005285864227461 0.8410672032745221 1.0 1.0 33 Q9Y2R0,Q9H2D1,P23786,P03886 4 |
| Abnormality of the musculature of the lower limbs 0.371721624949906 0.199308305926083 0.8420215823266686 1.0 1.0 26 P50402,P02545,Q8WXH0,Q9NR77,Q15149,Q9Y223,Q12768,P50570,P07196,O14979 10 |
| Abnormality of the biliary system 0.3884455734194769 0.199047118739395 0.8422258865358838 1.0 1.0 127 P22830,Q9Y2V7,P02545,Q69YQ0,P14174,P38398,O15118,Q15904,P61916,Q96J02,O00192,Q14108,P40855,P07602,Q10713,Q16134,Q9Y223,Q15056,P04066,P00374,A2RRP1,Q04656,Q9UDY2,P09601,Q15437,Q10567,P10644,P35670,Q9Y4P3,Q6NUQ1,P21964,O95202,Q5H8A4,P04062,Q9H267 35 |
| Abnormal serum interleukin level 0.4395399440472519 0.1981419242259565 0.842934024242153 1.0 1.0 3 P09884,Q15833 2 |
| Urinary urgency 0.3751723438170848 0.1943159786699816 0.8459284749184104 1.0 1.0 9 P04062 1 |
| Fibular hypoplasia 0.3755201104533814 0.1943121395780197 0.8459314807838938 1.0 1.0 5 Q15427,Q8NCM8 2 |
| Tongue fasciculations 0.3769794544155606 0.1941486092315489 0.8460595210131434 1.0 1.0 10 Q9NQT5,O95831 2 |
| Abnormal renal tubule morphology 0.3768641231890342 0.1935311037419153 0.8465430492168822 1.0 1.0 23 O75306,Q15056,Q01968,P57740,Q9Y4P3,P23786,P06280,P03886 8 |
| Oral pharyngeal dysphagia 0.3807103201929928 0.1932860902008674 0.8467349193361269 1.0 1.0 13 Q12959 1 |
| Hashimoto thyroiditis 0.4360121437405424 0.1918287114014391 0.8478763801584104 1.0 1.0 3 Q15437 1 |
| Increased sulfur amino acid level in urine 0.386370851387795 0.1914328487065532 0.8481864863784805 1.0 1.0 4 Q4J6C6 1 |
| Prolonged bleeding time 0.3718232275670537 0.1902363173270167 0.8491239536097748 1.0 1.0 8 P35579,Q15149,P21359 3 |
| Abnormal venous morphology 0.3644098921438376 0.1894216915153057 0.8497623248378505 1.0 1.0 28 P04062,Q9Y487 2 |
| Functional abnormality of male internal genitalia 0.3672019721726768 0.1891859122459835 0.8499471086850201 1.0 1.0 27 Q15056,O76024,P04062,Q9BZH6,P38398,Q9Y4P3,Q9BXW9,Q13423 8 |
| Focal cortical dysplasia 0.5950901180857788 0.1883288615637094 0.8506188618763872 1.0 1.0 2 Q8WUM0 1 |
| Abnormality of blood circulation 0.3158317374806831 0.1880380107052648 0.8508468543830712 1.0 1.0 68 P05067,O75844,P04062,Q9UHX1,P10644,P23786,Q9Y487 7 |
| Abnormality of urine calcium concentration 0.3787299565860845 0.1858473972139124 0.8525644343511032 1.0 1.0 13 Q9Y4P3,P35670,Q15056 3 |
| Thyroiditis 0.37032009898367 0.1852617814189886 0.8530237130969855 1.0 1.0 8 Q96J02,Q15437,P42224 3 |
| Ectropion 0.3773870755915578 0.1849895054187837 0.8532372669737271 1.0 1.0 12 P04062,P61978 2 |
| Myositis 0.3723066322206674 0.184565420663695 0.853569910230261 1.0 1.0 9 P28070,P01889,Q9NZ08 3 |
| Abnormal circulating carbohydrate concentration 0.3036017772753628 0.1843045850453104 0.8537745171970603 1.0 1.0 41 O95831,Q9Y6M9,Q00796,Q70HW3,O43676,P22695,P03886 7 |
| Retinal vascular tortuosity 0.3789459512278115 0.1834575701240354 0.854439007845011 1.0 1.0 14 Q9Y4P3,P21964,Q15056,P03886 4 |
| Purpura 0.3762604535140031 0.1833732177430606 0.8545051886906068 1.0 1.0 22 P21964,Q8NCH0,P04062,P38435,P10644 5 |
| Abnormality of neutrophil morphology 0.3713841368584657 0.1833512874830338 0.8545223948118885 1.0 1.0 5 P35579,Q14739,P41440,O75533 4 |
| Saccadic smooth pursuit 0.3643367526293296 0.1828443479976833 0.8549201504609898 1.0 1.0 6 Q10713 1 |
| Abnormal number of incisors 0.3667929256219431 0.1818641895879881 0.8556893083533781 1.0 1.0 7 Q12959 1 |
| Aplasia hypoplasia of the lungs 0.3357621847439916 0.1787077932532017 0.8581671495673211 1.0 1.0 35 P02545,Q69YQ0,O95202,Q16134,Q5H8A4,O75844,Q53EZ4,Q5JTZ9,Q8NCM8 9 |
| Peritoneal abscess 0.3693783248609641 0.178137265691258 0.8586151762610053 1.0 1.0 5 P38398 1 |
| Ovarian carcinoma 0.3693783248609641 0.178137265691258 0.8586151762610053 1.0 1.0 5 P38398 1 |
| Functional intestinal obstruction 0.3693783248609641 0.178137265691258 0.8586151762610053 1.0 1.0 5 P38398 1 |
| Extrahepatic cholestasis 0.3693783248609641 0.178137265691258 0.8586151762610053 1.0 1.0 5 P38398 1 |
| Tongue atrophy 0.3801399853648227 0.1780890301896018 0.8586530569629671 1.0 1.0 4 Q9NQT5 1 |
| Hypouricemia 0.4274168479950339 0.1771081828110727 0.8594234145810038 1.0 1.0 3 Q96EN8,Q9NQX3 2 |
| Megalocornea 0.3750659070417267 0.1765799050816198 0.8598383794552666 1.0 1.0 12 Q9Y4P3,Q5H8A4,Q15056 3 |
| Waddling gait 0.3694029462087692 0.1756226511384283 0.8605904059005434 1.0 1.0 25 P50402,P02545,Q8WXH0,Q4J6C6,Q5T8D3,Q8TD16,P06753,P11047 8 |
| Hip dislocation 0.3053058865913721 0.1753605089791227 0.8607963689840856 1.0 1.0 61 P02545,O95202,Q9NQT5,O75844,P38398,Q9UHX1,Q8N3U4,Q04656,Q8TD16,Q9BXW9,Q9Y487 11 |
| Retinal pigment epithelial mottling 0.5860783095090187 0.1746262737522461 0.8613733023244836 1.0 1.0 2 Q9UG56 1 |
| Schistocytosis 0.4258626049114145 0.1745465736220536 0.8614359320276319 1.0 1.0 3 Q05682,P41440 2 |
| Impaired adp induced platelet aggregation 0.4255517562946936 0.17403793569525 0.8618356487743586 1.0 1.0 3 Q86YV9,O00203 2 |
| Abnormal protein glycosylation 0.3761828113660053 0.1731465050147862 0.8625362712311944 1.0 1.0 20 Q8N511,P51571,Q9Y487 3 |
| Dilated third ventricle 0.3771548618048904 0.1719061975007249 0.8635112742208335 1.0 1.0 4 Q93009 1 |
| Abnormality of metacarpophalangeal joint 0.3759328358208892 0.1694145722263241 0.86547056219925 1.0 1.0 4 O60828,P16435,Q15233 3 |
| Myelomeningocele 0.3759328358208865 0.1694145722263185 0.8654705621992544 1.0 1.0 4 Q96ST3,Q9ULK5,Q8TAA9 3 |
| Sclerocornea 0.3675115836612204 0.1685686247186444 0.866135961190936 1.0 1.0 9 Q5H8A4 1 |
| Prenatal movement abnormality 0.3044990641296958 0.1682064370963604 0.8664208770293713 1.0 1.0 61 Q93009,P02545,Q13045,O95202,Q4J6C6,Q7KZN9,Q5H8A4,O75844,Q8NF91,P04062,Q70HW3,Q96F07,P50570,Q99567,Q8TD16,P06753,Q969X5,P40855 18 |
| Gingival overgrowth 0.3631255652069476 0.1676295888900456 0.8668746920004404 1.0 1.0 27 P10644,O00754,Q15056,P16278 4 |
| Eeg with multifocal slow activity 0.3644952303598655 0.1663538402897427 0.8678784978331657 1.0 1.0 8 P38606,Q96F07,Q08209 3 |
| Abnormal paranasal sinus morphology 0.3694773297361328 0.1663233363439835 0.8679025020719013 1.0 1.0 24 P10644,P28070,O00754,P04066 4 |
| Tetraplegia tetraparesis 0.2884152112495809 0.1655694979279014 0.8684957530597208 1.0 1.0 43 P07602,Q9UBX3,O95831,P17900,P50336,Q13423 6 |
| Eeg with focal epileptiform discharges 0.323559084315822 0.1626824599334879 0.8707684579461514 1.0 1.0 37 Q9UBB6,O75503,Q8NB90,Q9UBX3,Q08J23,Q5H8A4,Q05086,Q96C86,Q96N67 9 |
| Metaphyseal widening 0.3715574005292633 0.1616678811306052 0.8715673989019772 1.0 1.0 22 O95831,P34059,Q04656,Q8NCM8,P16278 5 |
| Facial erythema 0.5767557489123727 0.161358520555343 0.8718110343136216 1.0 1.0 2 O00170 1 |
| Peripheral axonal neuropathy 0.2984272471362244 0.1609212263305078 0.8721554439877992 1.0 1.0 57 Q9NZJ7,P07602,O15269,P34897,O95831,Q96RR1,O76024,Q8NF91,Q8IV08,P50570,P07196,Q13509,Q53GS7,P03886,Q9BPX6,O95140 16 |
| Abnormal posterior segment imaging 0.3715176629022289 0.1606040092150515 0.8724052969965315 1.0 1.0 4 P04439 1 |
| Cognitive impairment 0.4200756516601929 0.1569266514641899 0.8753026552503034 1.0 1.0 161 O95831,O15118,P61916,P50897,Q14108,Q9Y487,P40855,O75503,P07602,P13473,Q10713,Q9Y223,Q99720,P06280,Q9NZ08,Q9Y2R0,P05067,P54802,P17900,P10644,P35670,Q9Y619,P03886,P04062,P06865,O95470,P16278 27 |
| Somatic sensory dysfunction 0.3578630983203254 0.1550712517930423 0.8767651457438297 1.0 1.0 105 Q8TB36,P02545,O95831,P07602,Q9NR77,O15460,O14773,P06280,Q9NZ08,Q8NCH0,P05067,P54802,Q12768,Q00796,Q8IV08,Q9Y619,O00165,P50336,Q6UWE0 19 |
| Abnormality of the fetal cardiovascular system 0.3601615614630745 0.1550469782818938 0.8767842817684113 1.0 1.0 5 P16435,O60826,Q12768 3 |
| Abnormality of the ureter 0.3156670295514989 0.1527068811414261 0.8786294340496967 1.0 1.0 71 P21964,P02545,Q69YQ0,Q15056,O76024,O75844,P38398,Q9UHX1,Q53EZ4,Q7LGA3,Q04656,Q9Y4P3,P23786,Q9BXW9,Q86XL3 15 |
| Abnormal c peptide level 0.3591471998798922 0.15259395973873 0.8787184886436388 1.0 1.0 5 Q9UKG1 1 |
| Hypocalcemia 0.3714024754505726 0.1501724280607049 0.8806285784074062 1.0 1.0 16 Q4J6C6,P21964,P10644 3 |
| Fasciculations 0.3215880296467774 0.148902762827814 0.8816303610995528 1.0 1.0 37 P07602,O95831,Q9NQT5,Q6UWE0,Q8TD16,P06280 6 |
| Spastic tetraparesis 0.3686870756816715 0.1486412307665722 0.881836736939487 1.0 1.0 22 P07602 1 |
| Polysplenia 0.4084550823748861 0.1479484496203111 0.8823834516377873 1.0 1.0 3 Q9ULC3,Q86Y56 2 |
| Skin ulcer 0.3471970506318378 0.147414974060363 0.8828044870525247 1.0 1.0 31 P02545,O15460,P04062,P52732,Q8IZA0 5 |
| Lacrimation abnormality 0.3708479697113436 0.1469048600071524 0.8832071158142547 1.0 1.0 17 Q15056,Q15043,Q03001,Q01968,Q10567,Q9Y4P3 6 |
| Abnormality of the musculature of the upper limbs 0.3174184205238831 0.1457453204136937 0.8841224428153187 1.0 1.0 73 P50402,Q8TB36,P02545,P07602,Q9BQT8,Q8WXH0,Q96RR1,O14979,Q9NR77,Q9Y223,P50336,Q8TD16,P06753,P11047,Q9Y487 15 |
| Progressive hearing impairment 0.36857929022791 0.1448345283354948 0.8848415199762543 1.0 1.0 14 O76024,Q7Z406,P03886 3 |
| Joint stiffness 0.2965291286107074 0.144160231522197 0.8853739435012247 1.0 1.0 57 P02545,O76024,Q15427,P51648,O15357,P16435,P50402,Q13045,O15460,Q15056,O75431,O95140,Q8WXH0,O75844,P54802,Q9UBC1,Q9Y4P3,Q8NF91,Q01968,O00754,P01889,P16278 22 |
| Nail dystrophy 0.3609428108298688 0.1441284595886232 0.8853990318402918 1.0 1.0 26 P02545,O75844 2 |
| Generalized hypopigmentation of hair 0.3567937352234946 0.1422815920130274 0.886857586038776 1.0 1.0 8 P10644 1 |
| Exertional dyspnea 0.3680850110506237 0.1414065661101712 0.8875487673879672 1.0 1.0 21 P10644,P02545,O75844 3 |
| Spinal muscular atrophy 0.3663537388360089 0.1409689215670331 0.8878944941249722 1.0 1.0 13 Q8TD16,Q99720 2 |
| Absent toe 0.3603049136576568 0.1409418980391521 0.8879158426429798 1.0 1.0 26 P02545,Q9UHX1,Q7LGA3 3 |
| Accessory spleen 0.3531162446623342 0.1398169460526057 0.8888046238018412 1.0 1.0 7 O95202 1 |
| Aortic dissection 0.3604304339538949 0.1398088405258278 0.888811028174417 1.0 1.0 4 O15460 1 |
| Abnormally lax or hyperextensible skin 0.2918250870219097 0.139396177638012 0.8891370926753801 1.0 1.0 42 Q9Y4P3,Q8NCH0,Q15056,P04062,O96000,Q9UHX1,A2RRP1,Q53EZ4,Q15904,Q04656,P38435,Q9Y487 12 |
| Abnormal cartilage morphology 0.3643061931257429 0.1388785024865431 0.8895461588591771 1.0 1.0 12 Q9UHX1 1 |
| Alternating esotropia 0.5587321317588693 0.1382849312130106 0.890015234240769 1.0 1.0 2 P20700 1 |
| Long eyelashes 0.3148289990594076 0.1377954154366037 0.8904021077476216 1.0 1.0 38 Q4J6C6,Q9UHX1,Q9Y619,Q5KU26 4 |
| Abnormal hypothalamus physiology 0.3488087733891531 0.1365548675783053 0.8913826526666415 1.0 1.0 6 Q8N3U4 1 |
| Upper limb amyotrophy 0.3668490993969541 0.1352718051722127 0.8923969763694208 1.0 1.0 15 Q8TB36,Q9NR77,Q9BQT8 3 |
| Renovascular hypertension 0.3544723002129564 0.1352386452438749 0.8924231932586066 1.0 1.0 8 Q9Y4P3,Q15056,P42224 3 |
| Complete duplication of phalanx of hand 0.3513898794334488 0.1344220722457983 0.8930688288982351 1.0 1.0 5 Q9BXW9,P34897 2 |
| Bladder diverticulum 0.3558373155025572 0.1313536240211038 0.8954955733842165 1.0 1.0 9 Q9Y4P3,Q15056,Q04656 3 |
| Abnormal forearm bone morphology 0.3668257171091251 0.1312418142961861 0.895584018981515 1.0 1.0 19 P10644,Q8NCM8,Q32P28 3 |
| Craniofacial asymmetry 0.395309518377132 0.1303806072438774 0.8962653087942205 1.0 1.0 3 O95202 1 |
| Albinism 0.3950885918557732 0.1301035694361136 0.8964844861247085 1.0 1.0 3 Q86YV9,O00203 2 |
| Decreased muscle mass 0.3666206792817263 0.1298762001057191 0.896664374345367 1.0 1.0 18 Q8NCH0,P04066,Q9Y487 3 |
| Abnormality of the proximal phalanx of the thumb 0.3941560460056009 0.128940737197187 0.8974045420820727 1.0 1.0 3 Q9ULC3,Q15233 2 |
| Synostosis of metacarpals metatarsals 0.3941560460056 0.1289407371971858 0.8974045420820735 1.0 1.0 3 P16435,Q15233 2 |
| Abnormal social behavior 0.3077669209421346 0.1286791535473501 0.8976115313115796 1.0 1.0 67 Q9Y2V7,Q8NB90,P07602,Q96RR1,Q9Y6M9,P05067,Q15056,Q5KU26,Q9UHX1,O43676,Q13509,Q9Y4P3,P03886,Q96N67 14 |
| Lymphedema 0.3612161773386138 0.1284546423529132 0.8977891909349629 1.0 1.0 12 P06280 1 |
| Impaired vibratory sensation 0.3363913636509044 0.1277412618230828 0.898353735351975 1.0 1.0 33 Q96RR1,Q9NR77,Q8N0X7,Q12768,O00165,Q00796,O14773,P07196,Q6UWE0,Q9Y619,O95140 11 |
| Hypopigmentation of the skin 0.2906777098210783 0.1275102875831716 0.898536531331467 1.0 1.0 54 P02545,P07602,P53634,Q15437,Q9NP58,Q05086,P38398,Q8IZA0,Q99828,Q04656,Q96C86,P50336,Q9BXW9 13 |
| Polydactyly 0.2851719187276653 0.1257419410729544 0.8999362011539036 1.0 1.0 50 Q9Y2V7,P30153,P21964,O95202,Q10713,Q5H8A4,Q9BRT2,P61978,Q12768,Q9UHX1,Q8N3U4,Q9BXW9,Q8NCM8 13 |
| Enamel hypoplasia 0.3641700367386321 0.1254946812551129 0.9001319354960562 1.0 1.0 15 Q9Y2V7,P51648,Q15149,Q01968 4 |
| Easy fatigability 0.364291807730412 0.1250365802615287 0.9004945907137674 1.0 1.0 21 Q96RR1,P61978,P10644,P06753,P11047 5 |
| Agyria 0.3904258626049227 0.1243950852805458 0.9010024645034234 1.0 1.0 3 P43034,O00139 2 |
| Neoplasm of the skin 0.2768141147731245 0.1228621790723727 0.9022162353887302 1.0 1.0 44 P02545,P53634,Q06136,Q07954,Q15437,Q01968,P53602,P78549,Q13043,Q99828,P10644,P42224 12 |
| Full cheeks 0.3225858826954039 0.1224533028042774 0.9025400265574725 1.0 1.0 36 P52732,P02545,Q8N3U4,Q9UHX1 4 |
| Autoamputation of digits 0.3885607709045776 0.1221852913657339 0.9027522749602396 1.0 1.0 3 P39210,Q12756 2 |
| Acral ulceration 0.3885607709045776 0.1221852913657339 0.9027522749602396 1.0 1.0 3 P39210,Q12756 2 |
| Periventricular cysts 0.3467716661660817 0.1214681872605537 0.9033202109819878 1.0 1.0 7 O95202,Q9Y285,Q01968 3 |
| Depletion of mitochondrial dna in muscle tissue 0.3450754324014584 0.1204055888306844 0.9041618643663294 1.0 1.0 5 Q9UBX3 1 |
| Tube feeding 0.3116688493162059 0.1181352794672578 0.9059604701912376 1.0 1.0 71 Q9UBB6,P07602,P30153,Q8NB90,Q08J23,P61978,Q14139,Q9UHX1,Q8N3U4,Q99720,Q96C86,Q96J02,Q01105 13 |
| Abnormal tongue physiology 0.3628022542272239 0.117753328686587 0.9062631104894888 1.0 1.0 16 Q9NQT5,P10253,O95831 3 |
| Decreased adipose tissue 0.3619245298205881 0.1174112273448493 0.906534187475168 1.0 1.0 15 O75844 1 |
| Abnormal cardiomyocyte morphology 0.5388440024860297 0.1166411465811725 0.9071444299976577 1.0 1.0 2 P15924 1 |
| Megaloblastic anemia 0.3472673500544713 0.114026004081381 0.9092171796051522 1.0 1.0 8 O76024,P00374 2 |
| Lipoatrophy 0.3624335814294938 0.1135363113781075 0.9096053768679742 1.0 1.0 19 P02545,P04066,P42166 3 |
| Perseveration 0.3438560070704429 0.1132905192282545 0.9098002334094304 1.0 1.0 7 P61916 1 |
| Decreased facial expression 0.3444024396084917 0.113108505940168 0.9099445315063084 1.0 1.0 30 O75787,Q53GS7,Q15043,Q9Y263,Q6Y7W6,Q05086,P04062,Q9Y5P4,Q04656,Q96QK1,Q6P1N0,Q04637,P06753,Q969X5,Q96RR1 15 |
| Metaphyseal sclerosis 0.34152410575427 0.1128313250535535 0.9101642831148968 1.0 1.0 5 P61011,Q9H1A4,Q9Y3A5,Q5F1R6 4 |
| Stridor 0.3415241057542656 0.1128313250535442 0.9101642831149042 1.0 1.0 5 Q969Y2,Q96AX1,P21333,P53007 4 |
| Abnormal ovarian physiology 0.3545633485994506 0.1126833016661166 0.9102816402620582 1.0 1.0 26 P02545,O75844,Q9BZH6,Q5JTZ9,Q96RR1 5 |
| Incomprehensible speech 0.5332504661280427 0.1112457131319404 0.9114215027353324 1.0 1.0 2 Q6P1N0 1 |
| Skull asymmetry 0.5326289620882674 0.1106643906349311 0.9118824846432092 1.0 1.0 2 Q9C0B1 1 |
| Aplasia hypoplasia involving bones of the thorax 0.3252948033714454 0.1105688954232065 0.9119582140638932 1.0 1.0 35 P02545,O75844,Q9UHX1,Q9Y619,Q8NCM8 5 |
| Lumbar hyperlordosis 0.3599973400484947 0.1105558989245116 0.9119685205829746 1.0 1.0 15 Q15149,P04066,Q96HY6,Q96J02,P06753 5 |
| Cerebral hemorrhage 0.3573453556663438 0.110142393725277 0.912296447333337 1.0 1.0 13 P05067 1 |
| Eyelid myoclonus 0.3511019905529018 0.1093094027961869 0.9129570889340296 1.0 1.0 10 Q01105,P00374 2 |
| Abnormal umbilicus morphology 0.2988635912371337 0.1076343650981606 0.9142857359302066 1.0 1.0 62 P21964,P02545,Q69YQ0,Q8NCH0,Q15056,O75844,P38398,Q04656,Q9Y4P3,Q9BXW9,O00192,O00754,Q9Y487 13 |
| Pilomatrixoma 0.5288999378496061 0.1072517430135218 0.9145892671327518 1.0 1.0 2 P35222 1 |
| Germinoma 0.5288999378496061 0.1072517430135218 0.9145892671327518 1.0 1.0 2 P35222 1 |
| Oculomotor apraxia 0.3550155562680775 0.1058877812224091 0.915671388734576 1.0 1.0 25 Q10713,Q9NQT5,P05067,P04062,Q13509 5 |
| Supernumerary spleens 0.3472655068894003 0.1056630797861442 0.915849674376771 1.0 1.0 9 Q9ULC3,O95202,Q15904 3 |
| Increased circulating lactate dehydrogenase concentration 0.3558371128590448 0.105139962044112 0.9162647498897528 1.0 1.0 13 Q5JRX3,P10253,P23786,Q01968 4 |
| Hypovolemic shock 0.526103169670617 0.1047760930249361 0.9165534806168364 1.0 1.0 2 P15924 1 |
| 3 4 finger syndactyly 0.526103169670617 0.1047760930249361 0.9165534806168364 1.0 1.0 2 P15924 1 |
| 2 3 finger syndactyly 0.526103169670617 0.1047760930249361 0.9165534806168364 1.0 1.0 2 P15924 1 |
| Abnormality of taste sensation 0.5251709136109526 0.1039666697189774 0.9171957989031274 1.0 1.0 2 Q12756 1 |
| Recurrent corneal erosions 0.5251709136109525 0.1039666697189774 0.9171957989031274 1.0 1.0 2 P39210 1 |
| Torsion dystonia 0.3708423997513301 0.1032364580098823 0.9177753051763272 1.0 1.0 3 O14656,P04350 2 |
| Porokeratosis 0.3372990476165396 0.1025439488503654 0.9183249305433758 1.0 1.0 4 P53602 1 |
| Long penis 0.5226848974518475 0.1018464467946927 0.9188785580882384 1.0 1.0 2 O00170 1 |
| Abnormal meningeal morphology 0.3569433624965374 0.1015518081657314 0.9191124331167184 1.0 1.0 23 P21964,Q10713,Q9UHX1,Q8N3U4,Q15904 5 |
| Depressed nasal ridge 0.359136237346557 0.1008222880926979 0.9196915336527094 1.0 1.0 18 P10644,O00754,P16278 3 |
| Abnormal circulating free fatty acid concentration 0.3357930970264303 0.1004015784292269 0.9200255166949028 1.0 1.0 4 Q16836 1 |
| Monocytosis 0.5198881292728545 0.0995270278931978 0.9207198292773752 1.0 1.0 2 Q9UJV9 1 |
| Abnormal monocyte morphology 0.5198881292728545 0.0995270278931978 0.9207198292773752 1.0 1.0 2 Q9UJV9 1 |
| Abnormality of the sense of smell 0.3574266638066992 0.0962097639665503 0.9233539762669248 1.0 1.0 21 Q15043,Q6Y7W6,P04062,Q9BZH6,Q04656,Q96QK1,Q709C8 7 |
| Abnormal brainstem mri signal intensity 0.357363485338065 0.0959494079369924 0.9235607537057122 1.0 1.0 21 P03886,O95831,O43676 3 |
| Decreased specific antibody response to vaccination 0.3624494870997911 0.0955058299586375 0.9239130597923078 1.0 1.0 3 P50851,P17812 2 |
| Generalized hyperpigmentation 0.3435498522058884 0.0949733026962345 0.9243360324091796 1.0 1.0 9 Q13423 1 |
| Gastrointestinal atresia 0.3524450353641909 0.0940600681156155 0.9250614407263846 1.0 1.0 13 Q9BXW9,Q8N3U4,Q8NCM8 3 |
| Abnormal blood potassium concentration 0.3481580639822458 0.0931971258364114 0.925746957703324 1.0 1.0 11 Q13423 1 |
| Autism 0.273340272273431 0.0924093459414142 0.9263728142155904 1.0 1.0 44 P21964,Q9NVH6,Q15056,O76024,Q15437,Q05086,Q96F07,Q9Y4P3,P10644 9 |
| Hyperostosis 0.3547152115179882 0.0921635950367316 0.9265680618531102 1.0 1.0 15 P10644,Q15043 2 |
| Abnormality of the gastric mucosa 0.3540188924184254 0.0897831122076803 0.92845956849045 1.0 1.0 15 Q9Y4P3,O76024,Q15056,P04062 4 |
| Neonatal hypoglycemia 0.348801167581771 0.0884832161580088 0.9294926235780614 1.0 1.0 12 Q9UKG1,P31751,O43772 3 |
| Abnormality of the lymph nodes 0.3127042909103359 0.088230706011641 0.9296933126089368 1.0 1.0 37 Q9NZ08,O15460,P14174,P38398,P10644 5 |
| Abnormality of bladder morphology 0.3458280745922509 0.0862055909594973 0.9313029863125316 1.0 1.0 11 Q15056,Q15149,Q9NWM8,Q04656,Q9Y4P3 5 |
| Erythema 0.3545438108598568 0.0844235747599255 0.9327196642451234 1.0 1.0 21 P22830 1 |
| Nasal regurgitation 0.4990677439403508 0.0843544539714405 0.9327746186273048 1.0 1.0 2 Q9BUF5 1 |
| Abnormal blood gas level 0.3484612993472217 0.0842890143490878 0.9328266465989984 1.0 1.0 3 P06753,A5YKK6 2 |
| Hypochromic microcytic anemia 0.4987569919204623 0.0841547195184289 0.9329334190129644 1.0 1.0 2 O75027 1 |
| Pain insensitivity 0.3230721393034746 0.0836534401181606 0.9333319767288006 1.0 1.0 4 O15270,P39210,O15269 3 |
| Abnormal platelet morphology 0.3265940902021647 0.0834390906004786 0.933502407060098 1.0 1.0 5 Q86YV9,P27797,P12814,O00203 4 |
| Brain imaging abnormality 0.307005377870165 0.082816684711272 0.9339973022207058 1.0 1.0 38 P07602,P03886 2 |
| Aplasia hypoplasia of the uterus 0.3536789873447165 0.0822740026780194 0.9344288271759612 1.0 1.0 17 P30153,O95202,Q16740 3 |
| Abnormality of the uterus 0.289234368726927 0.0809764531666804 0.9354606786468174 1.0 1.0 57 P30153,Q69YQ0,P21964,O95202,Q16740,Q15437,Q9BZH6,P38398,P78549,P10644,Q9BXW9,Q8NCM8 12 |
| Mild microcephaly 0.3314712713160138 0.0803896298488505 0.9359273743934732 1.0 1.0 7 Q9Y2V7,Q05086 2 |
| Subcutaneous nodule 0.3535919386539617 0.0800846594361132 0.9361699235527008 1.0 1.0 18 P52732,P06280,Q9NZ08 3 |
| Hyperinsulinemic hypoglycemia 0.3304164619032063 0.0777271426176941 0.9380451027300624 1.0 1.0 7 P53985 1 |
| Aplasia hypoplasia of the phalanges of the hand 0.2836009399567621 0.0777138183057181 0.9380557019323824 1.0 1.0 53 P10644,Q9UHX1,O75844 3 |
| Meningocele 0.3428427665158458 0.077411518911488 0.9382961775152135 1.0 1.0 11 P21964,Q10713,Q9ULK5,Q92890,O00192 5 |
| Macroorchidism 0.3231726283048157 0.077261962153007 0.938415150224952 1.0 1.0 5 Q06787,P38159,P21359,Q9BZI7 4 |
| Restrictive behavior 0.3231726283048137 0.0772619621530031 0.9384151502249553 1.0 1.0 5 Q14683,Q01082,Q9UQN3,P55072 4 |
| Cafe au lait spot 0.2779963762534591 0.0771898160306218 0.9384725431057744 1.0 1.0 43 Q15437,Q9NP58,P38398,Q7LGA3,Q99828,P10644,Q9BXW9 7 |
| Abnormal morphology of the limbic system 0.3450020389802826 0.0768829916075403 0.9387166282245488 1.0 1.0 12 Q13509 1 |
| Decreased plasma carnitine 0.3425512838592203 0.0765628116099961 0.938971344115596 1.0 1.0 11 O43772 1 |
| Abnormal iliac wing morphology 0.344801765166901 0.0762798984447987 0.9391964179600852 1.0 1.0 12 P34059,P16278,O95831 3 |
| Abnormal glycosylation 0.3485527533530007 0.0761380480389796 0.9393092700209268 1.0 1.0 25 Q9Y2V7,Q8N511,P51571,Q9Y487,Q14746 5 |
| Humeroradial synostosis 0.4847731510254975 0.0759212409266096 0.9394817578136508 1.0 1.0 2 P16435 1 |
| Elbow ankylosis 0.4847731510254975 0.0759212409266096 0.9394817578136508 1.0 1.0 2 P16435 1 |
| Abnormal ovarian morphology 0.3342378128890523 0.0746951434855937 0.940457271817294 1.0 1.0 31 P02545,Q03252,Q15056,Q15437,P78549,Q9Y4P3,P10644 7 |
| Abnormal shoulder morphology 0.3340957129149846 0.0739233437359039 0.9410713810499132 1.0 1.0 31 P02545,Q15056,Q7LGA3,Q04656,Q9Y4P3,Q96PU5,Q9Y619 7 |
| Abnormal saccadic eye movements 0.3463352472196973 0.0735815471433666 0.941343354576374 1.0 1.0 26 O75306,P34897,Q10713,P18887,P04062,O14773,Q8IV08,Q13509,O95140 9 |
| Ambiguous genitalia 0.3516881849379382 0.0729407873115247 0.941853236787479 1.0 1.0 21 Q15392 1 |
| Nocturnal seizures 0.478558110627735 0.0727131867560738 0.9420343548147112 1.0 1.0 2 Q01082 1 |
| Lung adenocarcinoma 0.326391047559846 0.0704562400974343 0.9438305292947702 1.0 1.0 3 P30154,Q99496 2 |
| Moderately reduced visual acuity 0.3223500155424356 0.0683867791853627 0.945477745873012 1.0 1.0 3 O00429,O60313 2 |
| Abnormal pupil morphology 0.3393945652167636 0.0674856030997884 0.9461951229578608 1.0 1.0 11 Q9NR77,O95202,P11047 3 |
| Overhanging nasal tip 0.4670602858918665 0.0674523858811608 0.946221566209508 1.0 1.0 2 Q9H9E3 1 |
| Gastritis 0.3172628304821129 0.0670811322924992 0.9465171143068896 1.0 1.0 5 P49327,P50851,Q13546,Q6PGP7 4 |
| Abnormal scapula morphology 0.2809704594237397 0.066541011823264 0.9469471073292266 1.0 1.0 52 P02545,Q9Y223,Q9Y487,Q9Y619,P11047 5 |
| Trichorrhexis nodosa 0.3170655890581341 0.0658778675774539 0.9474750614122776 1.0 1.0 3 P18074,Q6PGP7 2 |
| Tinnitus 0.3450908670224133 0.0652016929417077 0.9480134132266864 1.0 1.0 14 Q9NR77,Q15043 2 |
| Athetosis 0.3447721241915466 0.0642013939047763 0.9488098675111593 1.0 1.0 14 O14949 1 |
| Depressed nasal tip 0.3053482587064592 0.0641952364225217 0.948814770357413 1.0 1.0 4 Q96KP1,Q01082,P21333 3 |
| Cough 0.3442985163134041 0.0641696660672414 0.9488351305700896 1.0 1.0 26 P10644,Q9NR77,P04062 3 |
| Generalized muscle weakness 0.3253639730517869 0.0627571193980072 0.9499599122866464 1.0 1.0 33 Q9NP58,P10253,Q15165,P11047 4 |
| Vaginal atresia 0.4540087010565732 0.0624511348252906 0.9502035746937512 1.0 1.0 2 P16435 1 |
| Underdeveloped nasal alae 0.3483479707401694 0.061549304823764 0.9509217492355228 1.0 1.0 22 Q08J23,Q5KU26 2 |
| Relative macrocephaly 0.3173146131517422 0.0607724776451269 0.9515404094523948 1.0 1.0 35 Q15392,P02545,O75844 3 |
| Left ventricular hypertrophy 0.3462841139729719 0.06022830852982 0.9519737996877636 1.0 1.0 24 P06280,P10253,P03886 3 |
| Squared iliac bones 0.4468614045991462 0.0601077881003024 0.952069787173673 1.0 1.0 2 O15357 1 |
| Dysgraphia 0.3432309761979714 0.0593965014405548 0.9526362995876908 1.0 1.0 14 P05067,Q15056 2 |
| Abnormal vitreous humor morphology 0.3221288515406195 0.0575852727159899 0.9540789808753294 1.0 1.0 7 P50148,P04439,O75533,Q99496,P35222,P53701 6 |
| Chronic rhinitis 0.4369173399627205 0.0572667600896237 0.9543326984878722 1.0 1.0 2 P51798 1 |
| Epicanthus inversus 0.4366065879428394 0.0571853475742792 0.9543975500013624 1.0 1.0 2 Q16531 1 |
| Mask like facies 0.3381375183513831 0.0566995194883513 0.9547845567943628 1.0 1.0 12 P04062,Q04656 2 |
| Spontaneous abortion 0.2872241218526591 0.0553830512061927 0.9558332982899298 1.0 1.0 3 P50570,Q9NQX3 2 |
| Myeloproliferative disorder 0.425419515226862 0.0545280774268465 0.956514439308882 1.0 1.0 2 P11274 1 |
| Tip toe gait 0.2813179981349133 0.0539356310548543 0.9569864484930002 1.0 1.0 3 O75477,Q9ULH0 2 |
| Severe photosensitivity 0.4105034182722314 0.0517276397024973 0.9587457134185002 1.0 1.0 2 Q9UBM7 1 |
| Tarsal synostosis 0.2907947166973518 0.0513624607273819 0.959036697269824 1.0 1.0 4 Q04656 1 |
| Synostosis involving bones of the lower limbs 0.2907947166973518 0.0513624607273819 0.959036697269824 1.0 1.0 4 Q04656 1 |
| Neoplasm of the peripheral nervous system 0.3420278032578367 0.0504541618569185 0.9597604763890708 1.0 1.0 15 P10644 1 |
| Bladder neoplasm 0.3227925690122909 0.0495988488395844 0.9604420639976264 1.0 1.0 8 Q04656 1 |
| Renal phosphate wasting 0.3943443132380478 0.0494853971649352 0.9605324743165332 1.0 1.0 2 O15357 1 |
| Corpus callosum atrophy 0.3416234578313445 0.0491840015863176 0.9607726607202178 1.0 1.0 15 O75503,O00754 2 |
| Juvenile myelomonocytic leukemia 0.3893722809198396 0.0489337781395163 0.9609720700335648 1.0 1.0 2 P21359 1 |
| Myeloid leukemia 0.3893722809198396 0.0489337781395163 0.9609720700335648 1.0 1.0 2 P21359 1 |
| Pectus excavatum of inferior sternum 0.3893722809198396 0.0489337781395163 0.9609720700335648 1.0 1.0 2 P21359 1 |
| Elevated tissue non specific alkaline phosphatase 0.3890615288999515 0.0489012272707138 0.9609980108135148 1.0 1.0 2 Q13043 1 |
| Bifid uvula 0.319170133414134 0.0482667175579803 0.9615036791658168 1.0 1.0 34 Q69YQ0,P34897,Q6PGP7,P61978,Q15392,Q8N3U4,Q9Y619,O43505 8 |
| Deformed tarsal bones 0.3772529521441982 0.0478169915586288 0.9618620947404046 1.0 1.0 2 O75787 1 |
| Decreased circulating igg subclass level 0.376631448104425 0.0477675868355524 0.9619014690130414 1.0 1.0 2 P17812 1 |
| Large foramen magnum 0.3756991920447596 0.047694805651982 0.9619594738827748 1.0 1.0 2 Q9ULC3 1 |
| Abnormal vertebral segmentation and fusion 0.3756991920447575 0.0476948056519817 0.961959473882775 1.0 1.0 2 Q8TAA9 1 |
| Tricuspid valve prolapse 0.3756991920447576 0.0476948056519817 0.961959473882775 1.0 1.0 2 P53701 1 |
| Ulnar bowing 0.375699192044759 0.0476948056519817 0.961959473882775 1.0 1.0 2 P16435 1 |
| Abnormal spinal meningeal morphology 0.3744561839652086 0.0476001976827136 0.9620348744817556 1.0 1.0 2 P21359 1 |
| Disproportionate short limb short stature 0.3451278889508748 0.0473068445653047 0.962268673017856 1.0 1.0 21 P10644,Q15392,Q7LGA3,Q32P28 4 |
| Decreased specific antibody response to protein vaccine 0.36233685518957 0.0468113915355774 0.96266354985534 1.0 1.0 2 P17812 1 |
| Subependymal cysts 0.3418272218769528 0.045922064125324 0.963372368097724 1.0 1.0 2 Q9BSJ2 1 |
| Abnormality of the synovia 0.3144029433804606 0.0459080745158026 0.9633835184314448 1.0 1.0 80 P02545,O95202,Q6NUQ1,O75718,Q9NQT5,Q03252,O75844,Q9UHX1,P38398,Q8N3U4,Q04656,Q8NCM8,Q8TD16,Q9BXW9,P16278,Q9Y487 16 |
| Inguinal freckling 0.333747669359862 0.0456872439732955 0.9635595310280224 1.0 1.0 2 P21359 1 |
| Amniotic constriction ring 0.2986326911125047 0.0451330503944904 0.9640012578493856 1.0 1.0 2 Q53GS7 1 |
| Macrocephaly at birth 0.2871348663766445 0.0450539467463754 0.9640643092911588 1.0 1.0 2 P50570 1 |
| Abnormal macroscopic urine appearance 0.3441139272423973 0.0443309717291959 0.9646405840649837 1.0 1.0 19 Q8N1F7,Q9BW27,P57740,O43707,P23786 5 |
| Limb dystonia 0.3414762476130616 0.0441360835414082 0.9647959302908948 1.0 1.0 16 Q8NB90,Q8N3U4,Q99720,Q709C8,Q8NF91 5 |
| Diastema 0.3162167768913368 0.0440674954479205 0.9648506024780492 1.0 1.0 7 O15347,Q8WVM7 2 |
| Cavernous hemangioma 0.3021647178736291 0.0438484517660796 0.965025205275272 1.0 1.0 5 Q15437 1 |
| Bruxism 0.3189865359719112 0.0406767279574597 0.9675536146363756 1.0 1.0 8 Q12955,Q9Y5P4,P61978 3 |
| Eczema 0.2958102377514133 0.0402724411015513 0.9678759247635612 1.0 1.0 39 P22830 1 |
| Abnormal libido 0.2744672091315415 0.0400042565970569 0.968089732737486 1.0 1.0 4 Q9BZH6,Q8WWQ0 2 |
| Abnormality of the plantar skin of foot 0.3006457604244958 0.0396683613075211 0.9683575258328224 1.0 1.0 38 Q9Y2V7,P20810,P02545,P53634,Q06136,Q15437,P61978,P42166,Q9Y487 9 |
| Abnormal cranial nerve physiology 0.3035366105131057 0.0391939089803794 0.9687357898364436 1.0 1.0 72 P02545,P07602,Q9NR77,Q15043,Q9Y223,P38398,Q9UHX1,Q13509,P11047,P40855 10 |
| Poor suck 0.3327616142752886 0.0386099525479467 0.9692013672249836 1.0 1.0 29 Q12959,Q05086,Q8N3U4,Q04656,P22695,P11047 6 |
| Abnormality of prothrombin 0.3341385275490718 0.0384973825804933 0.9692911183368192 1.0 1.0 13 Q9Y223,A2RRP1,Q16836,P38435,Q6NUQ1 5 |
| Ichthyosis 0.3093421444497951 0.0374517257531739 0.9701248303862906 1.0 1.0 36 P02545,Q15800,P04062,Q10567,P51648,Q6P1M0,O95470,P40855 8 |
| Abnormal morphology of the musculature of the neck 0.3377549194554012 0.0372211725263936 0.9703086570731518 1.0 1.0 15 Q99720 1 |
| Abnormality of the glabella 0.3168103643952493 0.0357106677344795 0.9715130643566204 1.0 1.0 8 Q01082,A2RRP1,O95202,P21359 4 |
| Cutaneous syndactyly 0.3202384345911512 0.0343345953882725 0.9726103379937474 1.0 1.0 9 Q9Y619 1 |
| Abnormal urinary electrolyte concentration 0.3412194332793469 0.0341215363276663 0.9727802349769716 1.0 1.0 19 Q9Y4P3,P35670,Q13423,Q15056 4 |
| Partial agenesis of the corpus callosum 0.3361930510060479 0.0324892417389166 0.9740818953506604 1.0 1.0 15 Q15392 1 |
| Knee flexion contracture 0.3355969501221745 0.0323950781036916 0.9741569875339416 1.0 1.0 27 P23786,Q7LGA3,Q86XL3 3 |
| Abnormality of the upper respiratory tract 0.3311141802032219 0.032267439758933 0.9742587749848812 1.0 1.0 95 P07602,P02545,Q69YQ0,P28070,O15460,P04066,P54802,Q9UHX1,P34059,P16278,P10644,Q8NCM8,Q15165,O00754 14 |
| Abnormality of dna repair 0.2930015552099501 0.0316473923033557 0.9747532487070748 1.0 1.0 5 P19447,Q9BXW9,P18074,P29084 4 |
| Elfin facies 0.3100743686583988 0.030779892324463 0.9754450764220256 1.0 1.0 7 Q9Y4P3,Q15056 2 |
| Neurogenic bladder 0.3144831791336697 0.0305092664315514 0.9756609032788311 1.0 1.0 8 P50336,O76024 2 |
| Decreased lacrimation 0.304947514095212 0.0304747497902974 0.975688430773985 1.0 1.0 6 Q10567 1 |
| Lower limb pain 0.2540422885572067 0.029699310755468 0.9763068616179884 1.0 1.0 4 O75477,Q8WVX9,O95140 3 |
| Truncal obesity 0.334842955766408 0.0284446775830119 0.9773074910443889 1.0 1.0 15 P10644 1 |
| Delayed ability to sit 0.3387177323681148 0.027951311819003 0.9777009834970118 1.0 1.0 18 P10253,Q10713 2 |
| Hypopigmented skin patches 0.3300700962329059 0.0255381490437862 0.9796257198648056 1.0 1.0 29 P21964,P07602,P53634,Q15437,Q9NP58,P38398,Q8IZA0,Q99828,Q9BXW9 9 |
| Abnormal platelet volume 0.3065670712729522 0.0235397486000704 0.9812197324624083 1.0 1.0 7 Q6PGP7,Q14739,Q15477,P35579,P21333,P12814 6 |
| Open bite 0.3361749337205667 0.0231297389653445 0.9815467837639285 1.0 1.0 17 P10644,Q15056,P61978,Q9Y4P3 4 |
| Chromosome breakage 0.3191902168130828 0.022974673770269 0.9816704750194792 1.0 1.0 10 P38398 1 |
| Abnormal adipose tissue morphology 0.2834885649628769 0.022026033991543 0.9824271884509628 1.0 1.0 58 P50402,P02545,P28070,Q03252,O75844,Q15437,P04066,P42166,P52732,Q9Y487 10 |
| Intestinal malrotation 0.3264784494615876 0.0197292995013962 0.98425931770333 1.0 1.0 30 P21964,O95202,Q8NCH0,Q12768,Q15392,Q8NCM8 6 |
| Abnormal left ventricle morphology 0.3308675162400369 0.0192887976430118 0.9846107204534698 1.0 1.0 28 P06280,P10253,P03886 3 |
| Large basal ganglia 0.3360137349327723 0.0190456791731667 0.9848046652972332 1.0 1.0 18 Q13509,Q9UBB6,Q96C86,Q08J23 4 |
| Highly arched eyebrow 0.2882456446378266 0.0186069961810049 0.9851546216577752 1.0 1.0 62 Q8NB90,Q10713,Q5H8A4,Q5KU26,Q9UHX1,Q7LGA3,Q13555,O00754 8 |
| Rectal prolapse 0.312860205873228 0.0175179184848209 0.986023438155866 1.0 1.0 9 Q08J23,Q15056 2 |
| Abnormal morphology of the abdominal musculature 0.3201147427387645 0.0166926540541473 0.9866818075615328 1.0 1.0 11 Q69YQ0,Q8NCH0 2 |
| Decreased activity of mitochondrial complex iv 0.3302923758944208 0.015127501563685 0.9879304603954328 1.0 1.0 15 Q70HW3 1 |
| Inguinal hernia 0.3090826858997959 0.0128685756570054 0.9897326455439266 1.0 1.0 79 P51970,Q69YQ0,P30153,Q10713,Q8NCH0,Q9Y223,Q15056,Q32P28,Q12768,Q9UHX1,P34059,Q04656,Q9Y4P3,O00754,P16278,Q9Y487 16 |
| Sagittal craniosynostosis 0.2760905584623466 0.0127034261387565 0.9898644050240316 1.0 1.0 5 Q9ULC3,P61978 2 |
| Decreased fertility in males 0.3099795940139903 0.0112674447891109 0.9910100699833672 1.0 1.0 9 P38398 1 |
| Skin tags 0.3338999061092833 0.009235317535031 0.9926313874710012 1.0 1.0 19 Q9UHX1,Q8N3U4,Q12768 3 |
| Diminished motivation 0.3329275885364404 0.0087150068671037 0.9930465185946022 1.0 1.0 25 Q9UBB4,P04062,Q6Y7W6,P06865,Q8N3U4,P17900,Q709C8 7 |
| Supernumerary nipple 0.3166906744710145 0.0085244382914455 0.9931985646700764 1.0 1.0 11 Q7LGA3 1 |
| Colon cancer 0.3295121100056397 0.0073973113351666 0.9940978533220568 1.0 1.0 16 P10644,P78549,P38398 3 |
| Bilateral ptosis 0.3290402794667605 0.0060189504149256 0.9951976013884044 1.0 1.0 16 Q15149,Q9Y5P4,Q5T8D3,Q13509,P11047 5 |
| Pulmonary hypoplasia 0.3279205658054621 0.0058129916664957 0.9953619298179814 1.0 1.0 28 P02545,Q69YQ0,Q16134,O75844,Q53EZ4,Q5JTZ9,Q8NCM8 7 |
| Specific learning disability 0.291752066062513 0.0054293936538393 0.9956679919124743 1.0 1.0 66 P21964,Q10713,Q96RR1,P52732,Q8N3U4,Q13509,Q04656,P10644,P03886,Q9BPX6,Q9Y619,O00754,O43505 13 |
| Brisk reflexes 0.3337322657230436 0.0052081798563891 0.9958444924891632 1.0 1.0 22 Q99720 1 |
| Attenuation of retinal blood vessels 0.2966999831725421 0.0045231535682402 0.9963910579076068 1.0 1.0 7 P38435,P04439 2 |
| Wide intermamillary distance 0.3332541801065054 0.004372545196837 0.9965112248131048 1.0 1.0 23 Q92974,P52788,P07437,P61978,Q9BZH6,Q9Y5P4,P21359,P23786 8 |
| Polymicrogyria 0.3042012246290748 0.0037956607672854 0.9969715081476738 1.0 1.0 76 Q10713,Q01105,Q08J23,Q15392,Q96C86,Q13509,Q9Y487,Q8TD16,P23786,O43505,P40855 11 |
| Stomatitis 0.3211202566820164 0.0035281349675637 0.9971849614210964 1.0 1.0 13 P10644 1 |
| Abnormal pulmonary valve morphology 0.3261240266363086 0.0033601330320762 0.99731900677642 1.0 1.0 15 P10644,P21964 2 |
| Amblyopia 0.3291634622333944 0.0014947822676816 0.9988073367509976 1.0 1.0 17 Q9UHX1,P52732 2 |
| Death in infancy 0.2770072980349971 0.0010229054059536 0.9991838397117574 1.0 1.0 55 Q9Y2V7,P02545,P07602,O75718,P04062,Q12768,Q9BZH6,Q5JTZ9,Q9Y6N7,Q9H267,P16278,P40855 12 |
| Focal t2 hyperintense brainstem lesion 0.3301364594189752 0.0003180393918734 0.999746241283775 1.0 1.0 18 P03886,O43676 2 |
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