| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Ventricular hypertrophy 0.5383310481077921 2.8962366638742387 0.0037766746279419 0.9999999762799372 0.3885819432554139 40 O43772,P00403,P14854,Q15233,O00170,P40939,O75844,P23786,Q96MF7,P12235,P03886,P78536,P46976,P31040 14 |
| Cns demyelination 0.6848075534196272 2.544065504543061 0.0109570534574403 1.0 0.4284683694083789 14 P51648,Q9H9P8,P49770,P40855,P07602,Q15067 6 |
| External ophthalmoplegia 0.620316127803794 2.3758172544659932 0.0175101324959228 1.0 0.5015247825992707 17 Q8N183,P12235,Q13472,O95352,P51530,P26640,P00403,P03886,Q14331,P31040 10 |
| Delusions 0.5862013568628965 2.3192499604870083 0.0203814869424272 1.0 0.5595863870583576 19 Q13144,Q9BQE5,O43681,P49770,P04062,P21964,P07602 7 |
| Broad foot 0.7067264908727001 2.2949775070335954 0.021734413371288 1.0 0.581380205186484 11 O00170,Q8IWS0,O43175 3 |
| Shoulder girdle muscle weakness 0.6711346093182481 2.2813973445217397 0.0225249450387241 1.0 0.5904844349134467 12 O14979,Q14331,P07602,P12235,P46976,P06753 6 |
| Left ventricular hypertrophy 0.5344630033090407 2.2257847468319736 0.0260286029890706 1.0 0.6256644678090327 24 Q15233,P12235,O00170,P40939,P78536,P00403,P03886,P31040 8 |
| Abnormal circulating lipid concentration 0.388080799279228 2.2049231628537376 0.0274594868167779 1.0 0.6338906409445246 80 P22830,O43772,O95470,Q8N511,Q15392,Q9Y285,O75845,P40939,P50402,P40855,Q08426,O75844,Q7L590,Q15800,Q96MF7,Q14739,P23786 17 |
| Thickened skin 0.3563886494455409 2.172728727373944 0.0298007403150597 1.0 0.6523719559467354 100 P50402,P04066,O75844,P16615,Q9NX24,Q15555,Q06136,P15924,O95470,P09493,Q14574,Q15800,Q96MF7,Q14739,P31040,O43175,O00170,P04062,Q9Y2B2,Q8WWQ0,Q9H1A4,P42166,Q9NWM8,P51648,Q13642,P40855,Q96AX1 27 |
| Abnormal blood potassium concentration 0.634251965978826 2.161231556913259 0.0306774568961352 1.0 0.6601077225485044 13 P40818,P05023,O00170,Q08426,Q9UNF1,P04075,Q01968,P04637,P04150 9 |
| Neoplasm of the rectum 0.6197013060653205 2.1598885863621864 0.0307812955490309 1.0 0.6601077225485044 14 O96017,Q16658,P20585,P04637,P31040 5 |
| Microcytic anemia 0.7047037181203034 2.155075246743518 0.0311559463875263 1.0 0.6601077225485044 10 P22830,Q9UBX3,Q9Y285 3 |
| Abnormal left ventricle morphology 0.5050665682476477 2.143847691566997 0.0320450925884996 1.0 0.6728019439395398 28 O43684,Q15233,P12235,O00170,P40939,O75787,P78536,P00403,P03886,P31040 10 |
| Exercise intolerance 0.4668979362903586 2.1235795943881115 0.0337053133505433 1.0 0.6859326927479005 36 Q9H2D1,Q9Y285,Q8NI60,P40939,P00558,P23786,P00403,P03886,P31040,P06753 10 |
| Personality changes 0.6022971023766533 2.1151714809042024 0.0344153346776057 1.0 0.6863547967559827 15 Q13144,P49770,P04062,P00403,P03886 5 |
| Abnormalities of placenta or umbilical cord 0.5971119146008397 2.0829636425705633 0.0372545377075006 1.0 0.7158993941530989 15 P16435,O75844,Q6PGP7 3 |
| Abnormal talus morphology 0.5440420658335905 2.080364148902422 0.0374921449955178 1.0 0.7158993941530989 20 P16435,O75844,Q9UHX1 3 |
| Hemianopia 0.7618819159149279 2.050292582799646 0.0403358879618047 1.0 0.7339549809520552 7 O00170,P03886 2 |
| Hypokalemia 0.7025772266123027 2.0190429584366 0.0434827547357348 1.0 0.7642423559613998 9 P40818,P05023,O00170,Q08426,Q9UNF1,P04637,P04150 7 |
| Antenatal onset 0.6195730578335373 1.9895509232244748 0.0466404269215408 1.0 0.7956308121909902 12 P27635,O95298,Q9Y285,Q7L590 4 |
| Branchial cyst 0.9130299251870334 1.9340628612201587 0.053105399468174 1.0 0.8553897574232114 2 Q9UHX1 1 |
| Muscle stiffness 0.5225566410184859 1.9260637500234845 0.0540964142447328 1.0 0.8655426279157261 20 Q15392,Q9Y3Z3,P53985,P23786,P06753 5 |
| Abnormality of the tarsal bones 0.4772198640400217 1.915059370366472 0.0554849325397357 1.0 0.8847082026954428 28 Q9UHX1,P40939,Q969X5,O75844,O75787,P16435,Q14739,O43175 8 |
| Bifid scrotum 0.7593768120048588 1.9106775582139208 0.0560460305210732 1.0 0.8905944575951368 6 Q96EK5 1 |
| Abnormal muscle fiber morphology 0.3781260341789981 1.901767190795836 0.0572015973291402 1.0 0.8928926280050566 69 O60231,Q9H2D1,P00403,O43676,Q8NI60,O14979,P50402,Q06210,P23786,Q70HW3,Q13501,P03886,P31040,P46976,P06753 15 |
| Thin skin 0.4839334352968694 1.8972715591608988 0.0577921066216857 1.0 0.8928926280050566 26 Q9Y619,O75844,Q13126 3 |
| Erythema 0.4955613896584768 1.897047073823925 0.057821725510921 1.0 0.8928926280050566 23 P22830,P51648,O00170,Q9Y2B2,Q9H1A4,P78536,P53701,P00403,P03886,Q06136,P15924 11 |
| Negativism 0.9046134663341662 1.896629052256324 0.0578769134467678 1.0 0.8928926280050566 2 Q9BQE5 1 |
| Social and occupational deterioration 0.9046134663341662 1.896629052256324 0.0578769134467678 1.0 0.8928926280050566 2 Q9BQE5 1 |
| Biliary cirrhosis 0.7247660886848675 1.878282269809532 0.0603425607364771 1.0 0.8974021853117115 7 P09601,P21266,Q14739 3 |
| Abnormal placenta morphology 0.6943626292473098 1.8645091980861137 0.0622502310928849 1.0 0.8975455865222626 8 O75844,Q6PGP7 2 |
| Aplasia hypoplasia of the skin 0.3821124264160102 1.8637954340924423 0.0623504372001684 1.0 0.8975455865222626 54 Q15392,Q13126,O15111,O00170,Q06787,Q15334,O75844,Q13363,Q8NCH0,P53701,Q9NX24,P04637,Q9Y619,P15924,Q9NWM8 15 |
| Breast hypoplasia 0.8461790324885663 1.8548345956332617 0.063619850095242 1.0 0.8999881232985463 5 Q9Y619,P25490 2 |
| Symptomatic seizures 0.687603268206042 1.8314858321239251 0.0670280604804434 1.0 0.9151487528992628 8 P53985 1 |
| Dermal atrophy 0.4705143639442386 1.822666459351098 0.0683539232008707 1.0 0.9151487528992628 27 Q15392,O00170,O75844,Q8NCH0,Q9NWM8 5 |
| Abnormal circulating acetylcarnitine concentration 0.7383075545501674 1.8160086421678447 0.0693690464496745 1.0 0.9151487528992628 6 P40939,O43772 2 |
| Palpebral edema 0.7375520835115982 1.8125996512774216 0.0698935916429148 1.0 0.9151487528992628 6 O00170 1 |
| Hypoglycemic seizures 0.7089423894268073 1.8041122518111512 0.0712137114366702 1.0 0.9151487528992628 7 P53985 1 |
| Hyperextensible skin 0.5521495361273046 1.7996309666431625 0.0719189280660725 1.0 0.9151487528992628 15 Q8NCH0,P25490,Q9UHX1,Q9NWM8 4 |
| Abnormal platelet volume 0.656971734689035 1.788662124623264 0.0736692462092833 1.0 0.9151487528992628 9 P60953,Q14739,Q6PGP7,O75845 4 |
| Cardiorespiratory arrest 0.8802992518703261 1.7880712517522828 0.0737645130553126 1.0 0.9151487528992628 2 O43772 1 |
| Fetal onset 0.7052874712732282 1.7869132394821086 0.0739515123340857 1.0 0.9151487528992628 7 P27635,Q9Y285,Q7L590 3 |
| Pathologic fracture 0.5585606230875478 1.7851795191246826 0.0742322029245778 1.0 0.9151487528992628 14 O96017,Q13126,O75845,P04062,P22626,O15269,P04637 7 |
| Lower limb amyotrophy 0.5017917236797769 1.7750396083164812 0.0758913474297604 1.0 0.9151487528992628 20 Q9NR77,O00400,P25490 3 |
| Ragged red muscle fibers 0.5387424535096466 1.7732126757302515 0.0761934724237676 1.0 0.9151487528992628 16 Q9H2D1,Q06210,Q70HW3,P00403,P03886,P31040 6 |
| Hyperpituitarism 0.501143364410546 1.7702960635600165 0.07667783349251 1.0 0.9151487528992628 20 P16435,O00170 2 |
| Areflexia of lower limbs 0.5001565461491596 1.7630731748420372 0.0778881488585234 1.0 0.9151487528992628 20 P12235,Q9NR77,Q16637,Q13501,Q15067 5 |
| Abnormal peripheral action potential amplitude 0.6727332974806216 1.7585039386434849 0.0786618020033456 1.0 0.9151487528992628 8 O60231,P31930,Q00796 3 |
| Prenatal maternal abnormality 0.5660480098390325 1.7556255318057397 0.0791523697390872 1.0 0.9151487528992628 13 P40939,O43772,P16435 3 |
| Abnormal circulating sex hormone concentration 0.4836900813335059 1.7463857024018377 0.0807439526840114 1.0 0.9151487528992628 22 Q13144,P49770,Q8WWQ0,P16435,P04637 5 |
| Progressive external ophthalmoplegia 0.6260209143615284 1.743067773968404 0.0813217769537306 1.0 0.9151487528992628 10 P00403,P03886,P51530,P12235 4 |
| Migraine 0.4719388439063773 1.739860534002708 0.081883510062267 1.0 0.9151487528992628 24 Q9NQZ5,O00170,Q16658,P00558,P00403,P03886 6 |
| Decreased activity of mitochondrial complex i 0.4212671688681502 1.7354848283631443 0.0826549664645237 1.0 0.9151487528992628 38 O43676,Q9Y584,Q86Y39,Q9UBX3,Q70HW3,P03886 6 |
| Decreased circulating progesterone 0.8151646389900867 1.725773241680363 0.0843882155568085 1.0 0.9151487528992628 5 P16435,P49770 2 |
| Abnormal circulating progesterone level 0.8151646389900867 1.725773241680363 0.0843882155568085 1.0 0.9151487528992628 5 P16435,P49770 2 |
| Demyelinating peripheral neuropathy 0.5215646572503754 1.7243001185012736 0.0846536779246105 1.0 0.9151487528992628 17 Q9NR77,P03886,O15121 3 |
| Stenosis of the external auditory canal 0.6640869129639915 1.7158646399935282 0.0861868198904121 1.0 0.9151487528992628 8 P16435,P61254 2 |
| Hypoplasia of the musculature 0.7156516332771308 1.7133620404134575 0.0866459552203267 1.0 0.9151487528992628 6 Q9NR77,P06753,Q9Y487 3 |
| Unexplained fevers 0.7148981979849588 1.7099342278333125 0.087278036207107 1.0 0.9151487528992628 6 Q9Y3Z3,Q9HC07,P07602 3 |
| Joint swelling 0.7147315855181263 1.7091760922267365 0.0874183360042102 1.0 0.9151487528992628 6 O96017,P14174,O00170,Q13510,P04637 5 |
| Pelvic girdle muscle weakness 0.6885907353613318 1.7080358988843434 0.0876296815925119 1.0 0.9151487528992628 7 O14979 1 |
| Limb muscle weakness 0.3420711014171539 1.7061493020874718 0.0879802851805036 1.0 0.9151487528992628 87 Q13126,P36551,Q9NR77,Q16637,P40939,O00400,Q96BR5,P50402,Q00796,Q13510,P06753,Q13501,Q14739,P31040,P46976,Q15067 16 |
| Loss of voice 0.8619077306733178 1.7056018783875886 0.0880822294205458 1.0 0.9151487528992628 2 Q13510 1 |
| Thoracic scoliosis 0.5702343771750777 1.7025200795250262 0.0886579176480819 1.0 0.9151487528992628 12 O75844,Q9UHX1 2 |
| Raynaud phenomenon 0.7116818687742961 1.6952914122346443 0.0900201531152768 1.0 0.9151487528992628 6 Q14739,O75844 2 |
| Retinal thinning 0.8566084788029943 1.681792245625432 0.0926091329182086 1.0 0.9151487528992628 2 P51648 1 |
| Vitritis 0.8566084788029937 1.6817922456254295 0.092609132918209 1.0 0.9151487528992628 2 P53701 1 |
| Abnormal elasticity of skin 0.3648620572027518 1.6726689165837452 0.0943924916036509 1.0 0.9151487528992628 61 Q13126,Q9UHX1,Q9Y4P3,O00170,P04062,P04637,P38435,Q15334,O75844,Q8NCH0,Q15555,P25490,O43175,Q9NWM8 14 |
| Abnormal thoracic spine morphology 0.4435650177620723 1.6697892478918257 0.0949610684473101 1.0 0.9151487528992628 29 O75845,Q9UHX1,Q9UPP1,P51648,P04062,O75844,P06753 7 |
| Generalized hyperpigmentation 0.551802189814908 1.669105600789086 0.0950964535301899 1.0 0.9151487528992628 13 O00170 1 |
| Hyperactive patellar reflex 0.7053359028765638 1.6663544163511814 0.0956428442484453 1.0 0.9151487528992628 6 P31040,P13073 2 |
| Adrenocorticotropic hormone deficiency 0.8528678304239423 1.664974365477514 0.0959178702100471 1.0 0.9151487528992628 2 O00170 1 |
| Multifocal cerebral white matter abnormalities 0.800120340513159 1.6627541843249607 0.0963616510867648 1.0 0.9151487528992628 5 Q9Y619 1 |
| Abnormal epidermal morphology 0.4923060743909019 1.6581617083759508 0.0972848313120247 1.0 0.9151487528992628 19 Q9Y3Z3,Q14574,P16615,O75844,P78536,Q06136 6 |
| Aplasia hypoplasia involving the skeletal musculature 0.6098113652102005 1.656296560491437 0.0976617767017318 1.0 0.9151487528992628 10 Q9NR77,P06753,O43175,Q9Y487 4 |
| Polyneuropathy 0.4786543759186477 1.654288921226361 0.0980688229155291 1.0 0.9151487528992628 21 P31930,Q8N2K0,Q9BYI3,P04066,P07602,P03886,Q9HC21,Q9NZJ7 8 |
| Paraparesis 0.4355831737239316 1.6524912058863894 0.0984344563958667 1.0 0.9151487528992628 31 P04062,P35637,Q9Y3Z3,Q13510,O75787,Q13148,Q5XKP0,Q13501,Q6DKK2,Q9Y619,P31040 11 |
| Decreased muscle mass 0.4910888127724925 1.6493607443813056 0.099073751891926 1.0 0.9151487528992628 19 Q9Y285,O43318,Q9Y487,Q06210,P04066,Q13363,Q8NCH0,P46976 8 |
| Synostosis of metacarpals metatarsals 0.848815461346635 1.6467454398951655 0.0996103800690997 1.0 0.9151487528992628 2 P16435 1 |
| Spastic paraparesis 0.4771206028605355 1.6427405776198387 0.1004366193973562 1.0 0.9151487528992628 21 P04062,Q9Y3Z3,Q6DKK2,Q9Y619,P31040 5 |
| Basal ganglia calcification 0.6482196218229971 1.6372514803934564 0.1015779343709724 1.0 0.9151487528992628 8 P03886,Q9Y3Z3 2 |
| Clumsiness 0.462248288194132 1.637237533323251 0.1015808473996564 1.0 0.9151487528992628 23 Q9NR77,O43681,Q15067,Q13510,P07602,Q13501,P06753 7 |
| Abnormal circulating follicle stimulating hormone concentration 0.6729487043032115 1.6337094627609088 0.1023198704798713 1.0 0.9151487528992628 7 P16435 1 |
| Absent septum pellucidum 0.4264157701827603 1.631698840563236 0.1027429444392959 1.0 0.9151487528992628 33 P49591,Q96N66,Q9NUQ7,Q15392,Q96F86,Q13409,Q8WWQ0,Q13363,P53701,O43175 10 |
| Deformed tarsal bones 0.844451371571074 1.6271040676444384 0.1037149972822946 1.0 0.9151487528992628 2 O43175 1 |
| Colorectal polyposis 0.6714620257441463 1.62662483819671 0.1038168007518682 1.0 0.9151487528992628 7 P20585,P04637 2 |
| Myopathy 0.3209842343569736 1.6264117319539342 0.103862096746885 1.0 0.9151487528992628 96 P22626,P50402,P03886,P06753,P15924,O60231,Q13126,Q9Y4P3,O43676,P40939,Q86Y39,P09493,Q06210,Q969X5,Q13501,P46976,P23786,P31040,P42166,P00403,P12235,O75306,Q9NWM8,Q13642,O14979,P00558,Q8NCH0 27 |
| Distal peripheral sensory neuropathy 0.6961318027912596 1.6242800486035385 0.1043160533377349 1.0 0.9151487528992628 6 P03886,P40939 2 |
| Joint contractures involving the joints of the feet 0.6246578383755751 1.6226361542487808 0.1046672070451371 1.0 0.9151487528992628 9 P14923,P49902,Q13642,Q8IWS0,P15924 5 |
| Long foot 0.582276763159182 1.6169299718329255 0.1058933978849756 1.0 0.9151487528992628 11 O00170 1 |
| Brittle hair 0.5309745959885703 1.6122238074866149 0.1069132463742295 1.0 0.9151487528992628 14 O75844 1 |
| Camptodactyly of toe 0.6922415446279104 1.606461039613001 0.1081726486476575 1.0 0.9151487528992628 6 Q13642,Q8IWS0,P15924 3 |
| Abnormality of the gastric mucosa 0.5298959812573456 1.6054198724405644 0.1084014339429384 1.0 0.9151487528992628 14 Q14739,P04062,Q6PGP7 3 |
| Hypoketotic hypoglycemia 0.6415836039159895 1.6042424731032798 0.1086606159449898 1.0 0.9151487528992628 8 P40939,O43772 2 |
| Nonprogressive 0.6907686698551282 1.5997093326161471 0.1096630805324778 1.0 0.9151487528992628 6 Q9NQZ5,Q10713 2 |
| Woolly hair 0.6890690246105791 1.5919145361742453 0.1114039089222962 1.0 0.9151487528992628 6 P15924,P14923,Q96A33,Q6PGP7 4 |
| Abnormal aortic valve cusp morphology 0.4528448625395711 1.5879046714314335 0.112307897013224 1.0 0.9151487528992628 24 Q6PGP7,P61254 2 |
| Abnormality of the umbilical cord 0.637741460972792 1.5850975431846468 0.1129441737104155 1.0 0.9151487528992628 8 P16435,O75844 2 |
| Fluctuations in consciousness 0.6376316275112571 1.5845499079290295 0.1130686337900654 1.0 0.9151487528992628 8 P00403,P03886,P04062,P25490 4 |
| Hypointensity of cerebral white matter on mri 0.6872092379143909 1.5833809937413552 0.1133346523314249 1.0 0.9151487528992628 6 Q9Y3Z3,P07602 2 |
| Abnormal blood monovalent inorganic cation concentration 0.4757261080054307 1.583151069809121 0.113387035823858 1.0 0.9151487528992628 20 P40818,P36551,O00170,P05023,Q08426,Q9UNF1,Q01968,P04637,P04150 9 |
| Ichthyosis 0.4201131704175835 1.5743949054135526 0.1153961809009576 1.0 0.9214452370937614 33 O95470,P51648,P04062,P50402,Q9Y2B2,P40855,Q8WWQ0,Q15800,P15924,O43175 10 |
| Patchy palmoplantar hyperkeratosis 0.8316708229426455 1.5695317661996715 0.1165240836010679 1.0 0.9214452370937614 2 Q06136 1 |
| Abnormal cardiomyocyte morphology 0.8316708229426449 1.5695317661996695 0.1165240836010683 1.0 0.9214452370937614 2 P46976 1 |
| Curly hair 0.5727275660205281 1.56326410363586 0.1179904877834316 1.0 0.9214452370937614 11 P55795,Q14004,Q6PGP7 3 |
| Bone fracture 0.6827203056224278 1.5627655970907235 0.1181077388694906 1.0 0.9214452370937614 6 Q13501,Q13126 2 |
| Oligomenorrhea 0.6323877752189184 1.5583818543162828 0.1191427554994972 1.0 0.9214452370937614 8 O00170,P04150,Q9UNE7 3 |
| Abnormality of circulating adrenocorticotropin level 0.5699160135418799 1.547429016207331 0.1217598288930261 1.0 0.9214452370937614 11 O00170,P16435 2 |
| Abnormal cervical spine morphology 0.7716739106584565 1.5429662356347502 0.1228389683946975 1.0 0.9214452370937614 5 Q8NCH0 1 |
| Abnormal circulating bilirubin concentration 0.4435277165501766 1.5394893979183355 0.1236848642131434 1.0 0.9214452370937614 25 O14936,O75845,P36551,P00558,P40855,P55263,P00390,Q14739,P23786,P43034 10 |
| Focal emotional seizure 0.60607517694907 1.5262695519167289 0.1269427482585496 1.0 0.9214452370937614 9 Q01105,O43175 2 |
| Thrombocytosis 0.4212744915707966 1.526078976645604 0.1269901970923557 1.0 0.9214452370937614 31 Q6PGP7,P61254,P62273 3 |
| Spastic tetraplegia 0.3976515392289746 1.5258278769011064 0.1270527361928559 1.0 0.9214452370937614 39 O60508,O43681,O15121,P04066,P08243,O43175,Q86XL3 7 |
| Abnormality of the calcaneus 0.6050534613696518 1.5209547338494482 0.1282711971342869 1.0 0.9214452370937614 9 Q14739,P40939,O75787,O43175 4 |
| Abnormal csf protein level 0.5275096093313429 1.5203959044962605 0.1284115031840307 1.0 0.9214452370937614 13 Q9NR77,P03886,O43681,P07602 4 |
| Abnormality of fundus pigmentation 0.6733388488235745 1.519602560790758 0.12861089392065 1.0 0.9214452370937614 6 Q9Y619 1 |
| Acetabular dysplasia 0.6047921568893568 1.5195952102553043 0.1286127424519323 1.0 0.9214452370937614 9 Q9Y584,Q96AX1 2 |
| Microretrognathia 0.5082759221777007 1.5170359269298028 0.1292576135623215 1.0 0.9214452370937614 15 Q8NCH0,Q9UHX1,Q96MF7 3 |
| Follicular hyperkeratosis 0.672762132697057 1.516945852970985 0.1292803554629393 1.0 0.9214452370937614 6 Q9NWM8 1 |
| Abnormality of the mitochondrion 0.3131306273477692 1.5158951687608764 0.1295458621385348 1.0 0.921488421465144 98 Q9Y584,P03886,O95298,Q9P0J0,O43676,P40939,Q86Y39,Q9UBX3,Q70HW3,Q13501,P46976,P31040,P23786,Q4J6C6,O43772,Q08426,P00403,P12235,O75306,P26358,P20674,P13073 22 |
| Aplasia hypoplasia of the cerebral white matter 0.6464765037448791 1.5070836254371738 0.1317892234075104 1.0 0.9262771583756518 7 P00403,P03886 2 |
| Temporal pattern 0.6464727127344719 1.5070654250984663 0.1317938880539397 1.0 0.9262771583756518 7 Q9NR77,P11182,P04062 3 |
| Sensorimotor neuropathy 0.4218913865270967 1.5061643288829138 0.1320249940669342 1.0 0.9262771583756518 30 Q8N2K0,P05023,Q9NR77,P40939,P07602,P00403,P03886,Q9Y2R0,Q9NZJ7 9 |
| Episodic vomiting 0.5815483145941794 1.503733674834942 0.132649954827889 1.0 0.9280989844492494 10 P22695,P36551,P61978,P00403,P03886,Q9Y619 6 |
| Increased muscle lipid content 0.6011565686202073 1.5006692833582247 0.1334411216029911 1.0 0.928890715566444 9 Q8NI60,P06753,P23786 3 |
| Pituitary prolactin cell adenoma 0.9018270513617987 1.499659095133559 0.1337027314752086 1.0 0.928890715566444 3 O00170 1 |
| Increased cerebral lipofuscin 0.6683380099101444 1.496553620648489 0.1345094458035896 1.0 0.928890715566444 6 Q9NZJ7,P07602,Q9NWW5 3 |
| Abnormal circulating ceruloplasmin concentration 0.9008790095385968 1.4959343585766107 0.1346707616450475 1.0 0.928890715566444 3 Q8N511 1 |
| Patellar hypoplasia 0.8142144638404011 1.4908155752950618 0.1360099213949062 1.0 0.928890715566444 2 Q8N806 1 |
| Macrogyria 0.6669026836213605 1.4899332904627274 0.1362417772014454 1.0 0.928890715566444 6 Q15392 1 |
| Osteomalacia 0.6667299904111912 1.489136613873329 0.1364513980266097 1.0 0.928890715566444 6 Q08426 1 |
| Morphological abnormality of the pyramidal tract 0.4560730038019832 1.483535229592391 0.1379322635830344 1.0 0.928890715566444 21 Q9UBB4,Q9Y4P3,Q9H9P8,O00400,P35637,Q13501,Q9Y619 7 |
| Dilation of virchow robin spaces 0.8120324189526205 1.480972989780878 0.1386137712037136 1.0 0.9321273889641034 2 P27635 1 |
| Lack of skin elasticity 0.4937781348604075 1.4749742841786908 0.1402194572370765 1.0 0.93479638158051 16 O00170,Q15334,O75844,O43175 4 |
| Abnormal circulating androgen level 0.5090546771880794 1.4734397837253108 0.1406324895141013 1.0 0.9348832804472154 14 P16435,P04637,Q8WWQ0 3 |
| Osteosarcoma 0.4342822598100472 1.4642858539553982 0.1431158606564553 1.0 0.9377414656132552 25 O96017,Q13126,P61254,P18077,P61313,P62273,Q9H1A4,Q13501,P04637 9 |
| Saccadic smooth pursuit 0.661219936547013 1.463701825887079 0.1432754364056077 1.0 0.9377414656132552 6 Q9UNE7,Q10713,Q06787,Q96KG9 4 |
| Abnormality of the septum pellucidum 0.3891392114834651 1.4633219200905387 0.1433793124670082 1.0 0.9377414656132552 40 P49591,Q96N66,Q9NUQ7,Q15392,Q96F86,P28482,Q13409,Q8WWQ0,Q13363,P51571,P53701,P43034,O43175 13 |
| Skin plaque 0.6609513107832605 1.4624610833083511 0.1436149012472112 1.0 0.9377414656132552 6 Q06136 1 |
| Thick corpus callosum 0.8076683291770596 1.461287654844996 0.1439365163284069 1.0 0.9377414656132552 2 Q15233 1 |
| Thin ribs 0.5292372792144575 1.459232562005153 0.1445011094641115 1.0 0.9377414656132552 12 O75844 1 |
| Abnormal mitochondrial number 0.8067331670822963 1.457069447617686 0.1450972109904542 1.0 0.9383889470401704 2 P46976 1 |
| Exercise induced muscle cramps 0.7503487674060516 1.4527333267945493 0.1462978100251764 1.0 0.9403709405703322 5 P53985,P23786 2 |
| Aortic valve stenosis 0.6112766617023809 1.4526355828961222 0.1463249610111594 1.0 0.9403709405703322 8 O75844 1 |
| Variable expressivity 0.3337097641784587 1.4500119368691795 0.1470551905192416 1.0 0.9416505045008478 80 O95470,Q9NR77,Q8NI60,O15121,Q9Y3Z3,P62273,Q08426,Q06210,Q13510,Q70HW3,P00403,P03886,P46976,P06753,P07602 15 |
| Central hypothyroidism 0.5708930596766848 1.445864137236344 0.14821531248037 1.0 0.9416505045008478 10 O00170,O14654 2 |
| Hydranencephaly 0.8039276807980074 1.4444152446379106 0.1486222050515837 1.0 0.9416505045008478 2 O43175 1 |
| Arthrogryposis multiplex congenita 0.4021075468366549 1.4413652192892654 0.1494815308586874 1.0 0.9416505045008478 34 Q15392,Q06210,O75844,Q8NCH0,P06753,O43175 6 |
| Memory impairment 0.3818164350521184 1.438831958636268 0.1501981392460052 1.0 0.9416505045008478 42 Q13144,Q4G176,P00403,O43681,Q16658,P52701,P42858,Q06787,P49770,P26358,P07602,Q13501,P03886,P25490,Q9NZJ7 15 |
| Inflammation of the large intestine 0.5025627683693125 1.432157212667869 0.1520988338681135 1.0 0.9416505045008478 14 Q6PGP7 1 |
| Ankylosis 0.6540856635224491 1.4307276869383672 0.1525082749454618 1.0 0.9416505045008478 6 O75844 1 |
| Diffuse cerebral atrophy 0.4783399602375342 1.42847714290606 0.153154569000236 1.0 0.9416505045008478 17 O14936,P31930,Q10713,Q06787,O75787,P07602,P54136,Q9NZJ7 8 |
| Submucous cleft of soft and hard palate 0.442127109420908 1.4257867853683293 0.1539298964964834 1.0 0.9416505045008478 22 Q15392,Q9Y619,O75844 3 |
| Abnormal circulating methionine concentration 0.6525205315220772 1.423487945820737 0.1545947540366601 1.0 0.9416505045008478 6 Q6PGP7 1 |
| Primary gonadal insufficiency 0.6051189858507802 1.4216873946614417 0.1551170210842607 1.0 0.9416505045008478 8 P49770,Q96MF7 2 |
| Ventricular preexcitation 0.6276298671113332 1.4164070250040035 0.1566563682978872 1.0 0.9416505045008478 7 P00403,P03886,O75306,Q969Y2 4 |
| Dysgenesis of the cerebellar vermis 0.7976932668329202 1.4162987600436614 0.1566880507336003 1.0 0.9416505045008478 2 Q10713 1 |
| Ambiguous genitalia male 0.8805737449329576 1.4161266844824774 0.1567384165702408 1.0 0.9416505045008478 3 Q15392,O75845 2 |
| Rhabdomyolysis 0.4995982696365447 1.4132837688514173 0.1575723044700172 1.0 0.9416505045008478 14 P40939,O43772,P23786 3 |
| Bilateral sensorineural hearing impairment 0.4246663465096484 1.4124415327754531 0.157819994625493 1.0 0.9416505045008478 26 P00403,O43681,P35637,O95352,Q13148,P07602,Q13501,P03886,Q15067,Q9NZJ7 10 |
| Alkalosis 0.6494167827321164 1.409125410131422 0.1587980884500388 1.0 0.9416505045008478 6 Q9Y619 1 |
| Echolalia 0.5445673885786687 1.4040562693783496 0.1603020943168016 1.0 0.9416505045008478 11 Q13501,O75787,Q9UHX1,P53701 4 |
| Microdontia 0.4264390507510506 1.4003340404845972 0.1614133117852643 1.0 0.9416505045008478 25 P61586,Q9Y4P3,P28482,P07237,Q9Y2B2,Q96A33,Q9H1A4,Q9NX24,Q15555,Q9Y619 10 |
| Large earlobe 0.6006217541189474 1.3990596558301598 0.1617950945606385 1.0 0.9416505045008478 8 Q15392 1 |
| Insidious onset 0.8693355610997764 1.3940201436944746 0.1633115218279237 1.0 0.9416505045008478 4 Q9NR77 1 |
| Aortic regurgitation 0.4314008493223117 1.39315712840542 0.1635722807839386 1.0 0.9416505045008478 23 O75844,Q6PGP7 2 |
| Severe lactic acidosis 0.7923940149625971 1.392406819801432 0.1637992404796058 1.0 0.9416505045008478 2 Q70HW3 1 |
| Cerebral dysmyelination 0.5989139941371614 1.390462057077252 0.1643886134162944 1.0 0.9416505045008478 8 Q9NZJ7,O43175,P07602 3 |
| Bilateral tonic clonic seizure with focal onset 0.7911471321695784 1.3867864723681356 0.1655068832730188 1.0 0.9416505045008478 2 P07602 1 |
| Ventricular arrhythmia 0.3924949136510559 1.3850776457737928 0.1660287264601849 1.0 0.9416505045008478 35 O43772,P00403,P36551,P50402,P09493,O75306,P12235,P03886,P46976,P23786,P15924,Q96AX1 12 |
| Focal non motor seizure 0.5594646313391609 1.3836263031785248 0.1664729100057616 1.0 0.9416505045008478 10 Q01105,O43175 2 |
| Corneal ulceration 0.7338459222334736 1.3827290135035653 0.1667479721931812 1.0 0.9416505045008478 5 O75844 1 |
| Neuronal loss in central nervous system 0.5403489173866023 1.380108008747075 0.1675533917852372 1.0 0.9422203648085252 11 Q6PJG6,P26358,P42858,P04062,P35637,P07602,O15118,Q9NZJ7 8 |
| Transposition of the great arteries 0.6426407914632435 1.377745532205319 0.1682818680671847 1.0 0.9430288258837404 6 O75844 1 |
| Nasogastric tube feeding in infancy 0.640782584888483 1.36913489611628 0.1709571120058308 1.0 0.9478609066732356 6 Q9NZJ7,P06753,Q9UHX1,P07602 4 |
| Hyperkeratosis 0.3409181748768256 1.365136794594931 0.1722100593423774 1.0 0.9478609066732356 57 P51648,P42166,P04062,Q9Y2B2,P09493,P04066,O15269,Q14574,P16615,O75844,Q9H1A4,Q9NX24,Q06136,P31040,P15924,Q9NWM8 16 |
| Hypocholesterolemia 0.5938799882188801 1.3651039957801827 0.1722203663516917 1.0 0.9478609066732356 8 Q9NZJ7,Q15800,P07602 3 |
| Bulbar signs 0.5134832210433877 1.364923597272589 0.1722770647323781 1.0 0.9478609066732356 12 O43681,P04062,P07602,P03886,P06753,Q9NZJ7 6 |
| Sarcoma 0.3396176751989936 1.359736263209061 0.1739133982596037 1.0 0.9500998692059298 62 O43684,O96017,P48735,Q15392,Q13126,Q01844,P61254,P18077,P61313,Q8NFG4,P62273,Q06124,Q9H1A4,P42677,Q13501,P04637,P31040,P63167 18 |
| Dry skin 0.4142779532636683 1.3542450775361266 0.1756582019771282 1.0 0.9500998692059298 27 P51648,Q6PGP7,P11802,P04066,Q06136 5 |
| Lymphopenia 0.4175655289192042 1.3536576630900827 0.1758456210450367 1.0 0.9500998692059298 26 O95470,Q6PGP7 2 |
| Large basal ganglia 0.467068885761014 1.3507043917728925 0.1767901448958544 1.0 0.9516314063999588 17 P49591,Q96N66,Q9NUQ7,Q96F86,Q13535,Q96C86,O60524,Q2M389,Q14139 9 |
| Cyanosis 0.4498679713186398 1.3490398949360385 0.1773241521894135 1.0 0.9533998449117947 19 P04066,O43772,O75844 3 |
| Eyelid myoclonus 0.5708998633663223 1.3425161046423706 0.1794287121781055 1.0 0.9579772317670034 9 Q01105,Q13510 2 |
| Corneal erosion 0.8556389379949809 1.3419237167430411 0.1796207309563131 1.0 0.9579772317670034 4 Q96EK5 1 |
| Gastrointestinal inflammation 0.4372491429719183 1.3402804040727208 0.18015419985561 1.0 0.9591093348346488 21 P08183,Q6PGP7 2 |
| Choriocarcinoma 0.7805486284289302 1.3390407004825655 0.1805574233925524 1.0 0.9591093348346488 2 P04637 1 |
| Hypopigmentation of the fundus 0.8545100813780611 1.3376302971119778 0.181016983057149 1.0 0.9597181469933928 4 Q9Y619 1 |
| Cold induced muscle cramps 0.8604665031367853 1.3371056064335196 0.1811881674065112 1.0 0.9597181469933928 3 Q9NR77 1 |
| Intrinsic hand muscle atrophy 0.7226250440596229 1.3350777391492623 0.1818509044025198 1.0 0.9610343922866652 5 Q9NR77 1 |
| Respiratory arrest 0.633128426283134 1.3336468714767689 0.1823196141193901 1.0 0.9613216017204208 6 O43772,P23786 2 |
| Macular degeneration 0.4968513993424749 1.3311335381315723 0.1831450752691132 1.0 0.9645779219621856 13 P50897,P54577,P51648,P26639,P04062,P04439,Q13510 7 |
| Dilated cardiomyopathy 0.3747538137669443 1.3187755638657204 0.1872441559235638 1.0 0.9697879196566018 40 P00403,P12235,P40939,P09493,P23786,P53701,P42166,P03886,P31040,O75306,P06753,P15924 12 |
| Schizophrenia 0.421548595443098 1.314780657504904 0.1885836298957715 1.0 0.9697879196566018 23 Q9BQE5,O43681,P04062,O95352,P21964,P16615,P07602 7 |
| Large placenta 0.854083674896889 1.31204012321679 0.1895065970274301 1.0 0.9697879196566018 3 O75844 1 |
| Increased circulating acth level 0.6283906584784686 1.3116673147270426 0.1896324096172124 1.0 0.9697879196566018 6 O00170,P16435 2 |
| Spinal canal stenosis 0.5462301254005442 1.311384980643994 0.1897277305361866 1.0 0.9697879196566018 10 O00170 1 |
| Abnormal circulating albumin concentration 0.394295103765438 1.3110933680676886 0.1898262210947607 1.0 0.9697879196566018 32 O95470,Q6PGP7,Q9Y285 3 |
| Abnormal anterior horn cell morphology 0.7167349185564633 1.3100560542094668 0.1901768735107665 1.0 0.9697879196566018 5 Q16637 1 |
| Abnormal peripheral nervous system physiology 0.3356708938972695 1.301609855520206 0.1930497890210645 1.0 0.9715303916027542 54 O60231,Q9NQZ5,P31930,Q9UBB4,Q8N2K0,Q9NR77,O43681,O15121,Q9ULM3,Q00796,Q9BYI3,O15269,P07602,Q9Y619 14 |
| Abnormality of lysosomal metabolism 0.7145085803432322 1.3005979012734183 0.1933961258043937 1.0 0.9722188772831928 5 Q9NZJ7,Q13510,P07602,Q9NWW5 4 |
| Degeneration of the lateral corticospinal tracts 0.580705332832873 1.2986537649747891 0.1940627778225265 1.0 0.9739499723827978 8 Q13501,O00400,P35637 3 |
| Abnormality of the ovary 0.3350847293035428 1.295383327386383 0.1951880266507919 1.0 0.9759401332539596 59 Q13144,P48735,Q01844,Q9Y4P3,O00170,Q16658,P49770,Q06787,P20585,Q06124,Q8WWQ0,O75844,Q9H1A4,P16435,P04637 15 |
| Neoplasm of the colon 0.3696299151755425 1.2890581749364505 0.1973778626748501 1.0 0.9805495533311612 41 O43684,O96017,P61254,P18077,Q16658,P61313,Q8NFG4,P62273,P20585,P42677,P04637,P31040 12 |
| Nonimmune hydrops fetalis 0.4059849852548683 1.2845383650676536 0.1989536487455876 1.0 0.9862659510465028 27 P61254,P18077,P61313,P04062,P62273,Q9BT22,Q7L590,P42677,Q14739,P10619 10 |
| Segmental peripheral demyelination remyelination 0.7101421262305274 1.2820481593213788 0.1998257527005069 1.0 0.9876381766557454 5 Q9NR77 1 |
| Abnormal circulating sulfur amino acid concentration 0.5768988399629771 1.279437847073342 0.2007429133410538 1.0 0.9877675079644396 8 Q6PGP7 1 |
| Patchy changes of bone mineral density 0.8390424275543813 1.2788225034082954 0.20095956754915 1.0 0.9877675079644396 4 Q14739,Q13126 2 |
| Impaired tactile sensation 0.5986147832527774 1.2762498084839342 0.2018672265369709 1.0 0.9877675079644396 7 Q9NR77,O15269 2 |
| Abnormal insulin level 0.4015281909172673 1.2758373494931052 0.2020130215811901 1.0 0.9877675079644396 28 P53985,O75844,P25490 3 |
| Scaling skin 0.558131813105785 1.2755338828386171 0.2021203392698782 1.0 0.9877675079644396 9 O75844,P78536 2 |
| Hyporeflexia of upper limbs 0.8447146866230221 1.275277257480054 0.2022111244663118 1.0 0.9877675079644396 3 Q9NR77,Q15067 2 |
| Ambiguous genitalia 0.4139437875988589 1.2751589809007833 0.202252976642526 1.0 0.9877675079644396 24 Q9H0U9,Q15392,O75845,P53701,P16435,O43175 6 |
| Retinal telangiectasia 0.7067080226341322 1.2674603421551225 0.2049907352751621 1.0 0.9877675079644396 5 P03886,Q14331 2 |
| Abnormal ovarian physiology 0.4094659918040843 1.2616620294726633 0.2070704254926063 1.0 0.9877675079644396 25 Q13144,O00170,P49770,Q06787,Q8WWQ0,O75844 6 |
| Congenital contracture 0.3668670823681342 1.2609533710858682 0.2073256474757896 1.0 0.9877675079644396 41 Q15392,P04062,Q06210,O75844,Q8NCH0,P06753,P25490,O43175 8 |
| Obsessive compulsive trait 0.7043340463769369 1.2573768670343055 0.2086172017570242 1.0 0.9877675079644396 5 Q8WXI9 1 |
| Visual loss 0.3356426755392752 1.2562186325545623 0.2090367130779542 1.0 0.9877675079644396 51 P53701,P14854,P01889,O00170,P40939,Q10713,P00558,P04439,Q8TC12,Q9NWW5,P00403,P03886,P07814,O75306,P07602,Q9NZJ7 16 |
| Dysesthesia 0.5942896960069968 1.25532680317617 0.2093601489755094 1.0 0.9877675079644396 7 Q9NR77,P31040,Q8NCH0 3 |
| Short middle phalanx of finger 0.8390526076438918 1.253081579388648 0.2101760190899759 1.0 0.9877675079644396 3 Q9UHX1 1 |
| Shoulder girdle muscle atrophy 0.8384589407625067 1.2507554758528547 0.2110237036791034 1.0 0.9877675079644396 3 Q14331 1 |
| Hyperinsulinemic hypoglycemia 0.5927054036065902 1.2476620177220792 0.2121548564066582 1.0 0.9877675079644396 7 P53985,P25490 2 |
| Chorioretinal degeneration 0.7019924830364584 1.2474321606009555 0.2122390803869382 1.0 0.9877675079644396 5 Q9Y619 1 |
| Hypothalamic hamartoma 0.7596633416458882 1.2451762794867147 0.2130669598550405 1.0 0.9877675079644396 2 O43924 1 |
| Abnormality of circulating enzyme level 0.2984593125624212 1.2411890538344683 0.2145359175542807 1.0 0.9877675079644396 95 Q5JRX3,P22626,Q9Y584,P50402,P53985,Q14331,P06753,P15924,O60231,Q9HC07,Q9Y4P3,Q96BR5,P40939,P09493,Q06210,Q969X5,Q13501,P23786,P31040,O43772,P42166,P12235,Q9NWM8,Q13642,O14979 25 |
| Pes valgus 0.5513611823959714 1.239987040127303 0.2149801877149268 1.0 0.9877675079644396 9 P06753,Q9UHX1 2 |
| Eversion of lateral third of lower eyelids 0.7581047381546167 1.2381879760409529 0.2156463688777758 1.0 0.9877675079644396 2 P60953 1 |
| Abnormal placental size 0.8281171084841583 1.2373261131778432 0.2159660370767215 1.0 0.9877675079644396 4 O75844,Q6PGP7 2 |
| Joint hemorrhage 0.7577930174563621 1.236790647623475 0.2161648150518531 1.0 0.9877675079644396 2 P38435 1 |
| Progressive sensorineural hearing impairment 0.5320442535270684 1.233828851017279 0.2172666862204406 1.0 0.9877675079644396 10 P03886 1 |
| Centrocecal scotoma 0.8322592254888634 1.2264777995517946 0.2200189246657853 1.0 0.9877675079644396 3 P03886 1 |
| Photoreceptor layer loss on macular oct 0.7546758104738185 1.2228236975185889 0.2213962928683197 1.0 0.9877675079644396 2 P04439 1 |
| Abnormality of thyroid physiology 0.3201760966062734 1.2207857382613996 0.222167155023347 1.0 0.9877675079644396 77 Q8N806,O14654,O95470,Q9Y285,Q6PGP7,P00403,Q9Y4P3,O00170,Q9Y3Z3,P04066,P21964,Q8WWQ0,P27635,P03886,Q92766,P25490 16 |
| Hoarse cry 0.7540523690773098 1.2200317329514754 0.2224528456008485 1.0 0.9877675079644396 2 Q13510 1 |
| Female pseudohermaphroditism 0.7540523690773098 1.2200317329514754 0.2224528456008485 1.0 0.9877675079644396 2 P04150 1 |
| Metaphyseal striations 0.6081617092141789 1.217768141986537 0.2233120939342019 1.0 0.9877675079644396 6 Q9UG56,Q13126 2 |
| Fibrous tissue neoplasm 0.4318429082020384 1.2169286344459351 0.2236313698188214 1.0 0.9879129014012094 19 Q13126 1 |
| Intestinal polyp 0.4206794832265509 1.2138896523611855 0.224789864827982 1.0 0.9895872607228052 21 O43684,O96017,Q16658,Q8NFG4,P20585,P04637 6 |
| Abnormal circulating aspartate family amino acid concentration 0.5629443383190367 1.208965066205411 0.226676266690631 1.0 0.993596484619128 8 Q6PGP7 1 |
| Atlantoaxial abnormality 0.8200286003387172 1.2066395290317076 0.2275709965946046 1.0 0.993596484619128 4 Q9NWM8 1 |
| Abnormally large globe 0.5449406423387722 1.206272763764017 0.2277123357669068 1.0 0.993596484619128 9 O14936,Q13535,Q86XI2,Q01968,P30533 5 |
| Abnormal activity of mitochondrial respiratory chain 0.3272331107809968 1.1981361267145922 0.2308640265563615 1.0 0.996473565787458 59 Q9Y2R0,Q9P0J0,Q9Y6M9,O43676,O75380,Q9Y584,P51970,Q86Y39,P13073,Q9UBX3,O75306,Q70HW3,P20674,P03886,O95298,P08559,P31040,O95299 18 |
| Neonatal hypoglycemia 0.5428094091247024 1.1950821556616522 0.2320549331079382 1.0 0.998161465690886 9 O43772 1 |
| Metabolic alkalosis 0.7484413965087313 1.1949269688068846 0.2321155649742383 1.0 0.998161465690886 2 P04150 1 |
| Biparietal narrowing 0.5064014490762537 1.186914230950506 0.2352614533925456 1.0 1.0 11 Q00839,Q10713,O75845 3 |
| Juvenile aseptic necrosis 0.6876416000019139 1.1865228790075315 0.2354158717383692 1.0 1.0 5 Q9Y619 1 |
| Limb girdle muscle weakness 0.3935640213594955 1.1801535818832296 0.2379391369005286 1.0 1.0 27 Q13126,O14979,Q06210,Q14331,P46976,P06753 6 |
| Proximal amyotrophy 0.4723077879796785 1.179032625024933 0.2383851849410114 1.0 1.0 13 Q06210,Q16637,O14979 3 |
| Perseveration 0.5777519769213737 1.1753256610335434 0.2398644519653512 1.0 1.0 7 P61916,Q15233,P35637,Q13148,Q13501 5 |
| Psoriasiform dermatitis 0.8109009634572517 1.172058190075837 0.2411736944651004 1.0 1.0 4 Q15800,P78536 2 |
| Equinovarus deformity 0.5969863807533167 1.1659103197943932 0.243650706122052 1.0 1.0 6 Q9NR77,P40939 2 |
| Hypermethioninemia 0.6826097487001888 1.1651900021348691 0.2439420916925665 1.0 1.0 5 Q6PGP7 1 |
| Abnormal pupillary function 0.5958903611200497 1.160826975672167 0.2457122704134913 1.0 1.0 6 Q9NR77,Q9NZJ7,P07602 3 |
| Epidermal acanthosis 0.5179218891779882 1.1565963463546522 0.2474373156996694 1.0 1.0 10 Q06136,P16615,Q14574 3 |
| Pulmonary fibrosis 0.4179216152529717 1.1521504317741822 0.2492592624332252 1.0 1.0 20 Q9UJW0,Q86TI2,P09601,P21266,P04062,Q08426,Q9NX24 7 |
| Long toe 0.5170316562527691 1.1517297565194935 0.249432140551749 1.0 1.0 10 Q8WXI9,P23786,Q9UHX1 3 |
| Telecanthus 0.3513493199880405 1.1490700990392797 0.2505270767481331 1.0 1.0 43 Q00839,Q8N806,Q96D09,P21964,O75844,Q8NCH0,Q92766,P25490,Q96EK5,Q86XL3 10 |
| Trismus 0.8041709571427507 1.1466001221147413 0.2515469259915872 1.0 1.0 4 O43175 1 |
| Poor wound healing 0.5915433870630687 1.140672243944798 0.2540063411341648 1.0 1.0 6 O00170,P04062 2 |
| Abnormality of the shoulder girdle musculature 0.3629853144469313 1.1382915407880605 0.2549987650925118 1.0 1.0 36 P12235,Q13642,O14979,P50402,O75147,Q06210,P46976,Q06124,P07602,Q13501,Q14331,P06753,Q9NZJ7 13 |
| Leukoencephalopathy 0.2911334867714436 1.1333074923928694 0.2570851464723303 1.0 1.0 100 Q9Y6M9,P22307,P63000,Q9NWW5,P27635,P03886,O95298,P08559,O43676,Q96BR5,Q86Y39,P67870,P31040,P60953,Q9Y285,Q9UHX1,Q9H9P8,P49770,Q53FT3,Q9Y3Z3,Q01105,Q13363,P07602,O75306,Q13144,Q9NXH9,O43681,O15121 28 |
| Tapered finger 0.35925112700794 1.1288559659711876 0.2589585989856569 1.0 1.0 38 O00170,Q8IWS0,Q8NCH0,P27635,Q15555,Q06136,P23786,Q96EK5 8 |
| Moyamoya phenomenon 0.7992915084679985 1.1281667606154189 0.2592494988152896 1.0 1.0 4 Q63HN8 1 |
| Small anterior fontanelle 0.8063610851263021 1.1254224779814053 0.2604100503815074 1.0 1.0 3 Q9Y619,Q13535 2 |
| Abnormality of the alveolar ridges 0.5878172341530723 1.1234057300885714 0.2612652173139094 1.0 1.0 6 Q15392 1 |
| Fatty replacement of skeletal muscle 0.5877259787561496 1.1229829928856625 0.2614447175599674 1.0 1.0 6 P22626,P09651 2 |
| Small for gestational age 0.3036810096265098 1.1229574785460754 0.2614555540397836 1.0 1.0 86 Q6PGP7,P61254,Q9UHX1,Q9Y584,P62273,P16435,Q9Y619,P25490 8 |
| Colon cancer 0.4268445975975827 1.122873189764493 0.2614913554757154 1.0 1.0 18 O43684,O96017,Q16658,Q8NFG4,P20585,P04637 6 |
| Impaired visuospatial constructive cognition 0.5288251517034321 1.1216935909064585 0.261992742530442 1.0 1.0 9 P03886,Q10713 2 |
| Impaired glucose tolerance 0.5864391970193248 1.1170227290957029 0.2639846070183702 1.0 1.0 6 O00170 1 |
| Neoplasm of the large intestine 0.3373573335801664 1.1165690955666725 0.2641786115973692 1.0 1.0 47 O43684,O96017,P61254,P18077,Q16658,P61313,Q8NFG4,P62273,P20585,P42677,P04637,P31040,P63167 13 |
| Thoracic kyphosis 0.4330211760815519 1.1154469037873047 0.2646589595441355 1.0 1.0 17 Q9UPP1,P51648,Q9UHX1,P04062 4 |
| Incoordination 0.3132202699971793 1.1149762368397638 0.2648606049931779 1.0 1.0 76 Q9NR77,P49589,P27635,Q9UHD1,P06753,Q9UBB4,P40939,Q10713,Q06210,Q13510,Q13501,Q6DKK2,Q9Y619,Q15067,P31040,P04062,Q01105,P07602,P12235,O43681,Q13642,P13639,O75787 23 |
| 3 4 finger syndactyly 0.7303615960099784 1.114366149165667 0.2651221392802259 1.0 1.0 2 P15924 1 |
| 2 3 finger syndactyly 0.7303615960099784 1.114366149165667 0.2651221392802259 1.0 1.0 2 P15924 1 |
| Hypovolemic shock 0.7303615960099784 1.114366149165667 0.2651221392802259 1.0 1.0 2 P15924 1 |
| Phenotypic variability 0.2908854320702531 1.1142174712738706 0.2651859019365095 1.0 1.0 101 O95470,P36551,Q9NR77,Q8NI60,O14979,O15121,Q9Y3Z3,P62273,Q08426,Q06210,Q13510,Q70HW3,P00403,P03886,P46976,P06753,P07602 17 |
| Avascular necrosis 0.4127291456235827 1.11340661863395 0.2655338336914703 1.0 1.0 20 Q8IWS0,Q9Y619,O75844,P04062 4 |
| Unilateral renal agenesis 0.4125966858108773 1.1124189371820823 0.2659580661091942 1.0 1.0 20 Q9UHX1,Q86XL3 2 |
| Psychotic mentation 0.584941193407853 1.1100858276066023 0.2669620437305209 1.0 1.0 6 O00170,P03886 2 |
| Increased bone mineral density 0.393379210004378 1.1094406889063508 0.2672401175843073 1.0 1.0 24 Q15392,Q13126,Q9Y4P3,P04062,Q14739 5 |
| Large hands 0.4457173869896443 1.108554632380891 0.2676223586594346 1.0 1.0 15 O00170,P08243,O43175,Q9UPP1 4 |
| Severe short limb dwarfism 0.8000179904807128 1.1007860054496292 0.270989803937701 1.0 1.0 3 Q96MF7 1 |
| Coronal craniosynostosis 0.5826023974463237 1.0992593841821692 0.2716549428794041 1.0 1.0 6 P16435 1 |
| Abnormality of metacarpal epiphyses 0.6669780935900693 1.099041755535248 0.2717498532345375 1.0 1.0 5 P16435 1 |
| Cranial asymmetry 0.581534152800004 1.0943161205868053 0.2738163575058845 1.0 1.0 6 Q13363,P40855 2 |
| Hyperconvex nail 0.5391914572703076 1.0891154690635678 0.276102969139586 1.0 1.0 8 Q9Y619 1 |
| Abnormal nerve conduction velocity 0.3426302571853612 1.0836676115216335 0.2785122010821044 1.0 1.0 44 O60231,P31930,Q9UBB4,Q8N2K0,Q9NR77,O43681,O15121,Q00796,Q9BYI3,O15269,P07602,Q9Y619 12 |
| Polyhydramnios 0.3312197077759639 1.0831032771779852 0.2787625845271213 1.0 1.0 48 Q6PGP7,P04062,P21964,O75844,Q70HW3,P27635,Q14739,P06753,O43175 9 |
| Neoplasm of the skeletal system 0.344791051931143 1.0809864313037847 0.279703149387954 1.0 1.0 43 O96017,P48735,Q13126,P61254,P18077,Q16658,P61313,Q9Y3Z3,P62273,Q06124,Q9H1A4,P42677,Q13501,P04637 14 |
| Cleft soft palate 0.3167788329671562 1.0788648733282586 0.2806479698886959 1.0 1.0 64 Q15392,Q6PGP7,P61254,P62273,Q9Y619,Q9NWM8 6 |
| Ketosis 0.4079050200257526 1.0774620713304577 0.2812738866333899 1.0 1.0 20 Q96EY8,P53985,P35610,P11182 4 |
| Atrophic scars 0.7854461086177782 1.0759951779117316 0.2819294129954186 1.0 1.0 4 Q9NWM8 1 |
| Abnormality of the posterior pituitary 0.5355727796369112 1.0708943886478357 0.2842169192363752 1.0 1.0 8 Q9UHX1 1 |
| Progressive hearing impairment 0.4548200838210305 1.0708193147610077 0.2842506805046114 1.0 1.0 13 P03886 1 |
| Deep plantar creases 0.576144848630003 1.0693954908795955 0.2848914982823252 1.0 1.0 6 O00170,Q9Y487 2 |
| Erlenmeyer flask deformity of the femurs 0.7913938260056234 1.0673810572004216 0.2857997988101113 1.0 1.0 3 P04062,P07602 2 |
| Rickets 0.5345617422699842 1.0658062423061283 0.2865112385159722 1.0 1.0 8 Q08426 1 |
| Stillbirth 0.4539360438456692 1.0653604032397594 0.2867128682042739 1.0 1.0 13 P16435,Q14739,O75844,O43175 4 |
| Laryngeal stridor 0.7191396508728218 1.0646792269600802 0.2870211135902485 1.0 1.0 2 Q13510 1 |
| Undetectable electroretinogram 0.6587770148168868 1.0644363397772447 0.2871310788040913 1.0 1.0 5 O43924,Q96S66 2 |
| Hemivertebrae 0.4842412571272443 1.0608824153056775 0.2887433416988583 1.0 1.0 11 Q9Y619,Q9UHX1 2 |
| Hypoplasia of teeth 0.3890143019698774 1.0560881242096989 0.2909279555474016 1.0 1.0 23 P61586,O75844,P51648 3 |
| Cutaneous finger syndactyly 0.7884279676952637 1.0559197270047065 0.2910048906317817 1.0 1.0 3 Q9Y619 1 |
| Emg chronic denervation signs 0.4374114836953321 1.0544263344288318 0.2916877707370418 1.0 1.0 15 O43681,P22626,Q13510,P09651,P07602,Q969X5,Q9NZJ7 7 |
| Abnormality of hepatobiliary system physiology 0.3069492081812102 1.0523771892097202 0.2926265299804429 1.0 1.0 78 Q8N511,Q9NX24,P03886,Q6PGP7,O75845,P40939,Q10713,Q13510,Q9Y619,P23786,O43772,P04062,Q9BT22,O75306,P22830,Q8TCJ2,P40855,Q96A33,O75787,P55263 20 |
| Abnormality of hair growth 0.6558403525445176 1.0520653622136604 0.2927695625517166 1.0 1.0 5 P78536 1 |
| Nail dysplasia 0.3694317542256559 1.0466059180504708 0.2952813713064852 1.0 1.0 30 P10321,Q13535,P16615,Q9H1A4,Q13363,Q9NX24,Q9Y619,P15924 8 |
| Retinal detachment 0.4507358553971749 1.0456123393830348 0.2957400499022158 1.0 1.0 13 Q14331,Q8NCH0,Q96MF7 3 |
| Hyperaldosteronism 0.7138403990024976 1.041317670403028 0.2977281383316459 1.0 1.0 2 P04637 1 |
| Young adult onset 0.4794686221780205 1.0338158082145847 0.3012222799372015 1.0 1.0 11 P36551,P38435,Q14566,O15118,P07602,Q9NZJ7 6 |
| Heterogeneous 0.3378620707303928 1.0336788275759634 0.3012863342576701 1.0 1.0 44 Q9BQE5,Q9NR77,Q15555,P40939,P21964,O75844,P12235,P03886,Q9Y619,P06753 10 |
| Deep palmar crease 0.4580256652111788 1.0321270696317058 0.302012594294595 1.0 1.0 12 Q9Y487,O00170,P61978,Q69YQ0,Q96AX1 5 |
| Hepatic failure 0.3234067300273601 1.0316315776102765 0.302244741675 1.0 1.0 49 P22830,O43772,Q6PGP7,O75845,P40939,Q10713,P40855,Q13510,P03886,Q9Y619,P23786 11 |
| Widened cerebral subarachnoid space 0.7820392890551986 1.0312818684895166 0.3024086584594763 1.0 1.0 3 P00403,P03886 2 |
| Pancreatic islet cell hyperplasia 0.7815855200185322 1.0295346747349363 0.3032284944126333 1.0 1.0 3 P53985 1 |
| Hypothermia 0.4946113537501795 1.0293997140424522 0.3032918834455755 1.0 1.0 10 P03886,O43772 2 |
| Abnormal sarcomere morphology 0.7100997506234452 1.0248706995143588 0.3054242015507493 1.0 1.0 2 Q13501 1 |
| Abnormal z disc morphology 0.7100997506234452 1.0248706995143588 0.3054242015507493 1.0 1.0 2 Q13501 1 |
| Noncompaction cardiomyopathy 0.7802089274585793 1.0242365667632007 0.3057235510826954 1.0 1.0 3 P31040 1 |
| Abnormal large intestine morphology 0.3029732519102947 1.0222814115483947 0.3066477284770408 1.0 1.0 80 P18077,P20585,O75844,Q6PGP7,P61254,O43318,Q9Y4P3,P61313,P31040,O96017,Q16658,Q8NFG4,P62273,O15143,P53701,P04637,P63167,O43684,P08183,P42677,P52701 21 |
| Abnormality of neutrophil morphology 0.7708551859606426 1.0212742822227852 0.3071245074317286 1.0 1.0 4 Q14739 1 |
| Partial agenesis of the corpus callosum 0.4772294844711885 1.0211313989821085 0.3071921886573734 1.0 1.0 11 Q15392,O60508,P40925,P08559,Q9HC21 5 |
| Abnormal circulating non proteinogenic amino acid concentration 0.5455741519949183 1.0201246938628403 0.3076693267080645 1.0 1.0 7 Q9Y619 1 |
| Emg abnormality 0.3056751272439977 1.0137142736771485 0.3107191111334573 1.0 1.0 76 Q9NR77,P50402,P22626,Q14331,P06753,P15924,O60231,Q8NI60,Q06210,P09493,Q13510,Q969X5,Q13501,P46976,P31040,Q16637,P07602,P12235,P42166,O43681,Q13642 21 |
| Dyskinesia 0.3115416511707697 1.013265406774146 0.3109334062755335 1.0 1.0 64 P49591,Q9P0J0,Q96N66,O14936,Q9UBB4,Q9NUQ7,Q96F86,Q16658,P04062,O95352,Q01105,Q9UBX3,P35610,P67870,P03886,O75306,O00571 17 |
| Coarctation of aorta 0.3423201693600636 1.0125432464259818 0.3112783800036007 1.0 1.0 41 Q9UHX1,P61254,P62273 3 |
| Abnormality of bladder morphology 0.5077656782186228 1.0115078676296094 0.3117734174504822 1.0 1.0 9 P16435,Q9NWM8 2 |
| Hydrops fetalis 0.339913605402893 1.0083433994820226 0.3132896349748555 1.0 1.0 42 P61254,P40939,P62273,Q13510,Q9BT22,Q7L590,Q14739 7 |
| Choroid plexus carcinoma 0.7756043093921927 1.006540939767992 0.3141554283693959 1.0 1.0 3 P04637 1 |
| Hyperlipidemia 0.3576051364573233 1.0037303650197635 0.3155085967754276 1.0 1.0 33 P22830,O95470,Q9Y285,P50402,O75844,Q7L590,Q96MF7 7 |
| Abnormal middle phalanx morphology of the hand 0.5420954431422066 1.0034231669791382 0.3156567308996083 1.0 1.0 7 Q9UHX1 1 |
| Abnormality of exocrine pancreas physiology 0.4165196386492757 1.0019625652650326 0.3163616731736702 1.0 1.0 17 Q9UJW0,P54577,Q9UHX1,P14174,Q8WX93,P09601,Q15904,P21266,Q9Y3E5,P04637 10 |
| Decreased activity of mitochondrial complex iv 0.4164333427272624 1.0013712495274143 0.3166473583631486 1.0 1.0 17 Q9Y584 1 |
| Distal lower limb amyotrophy 0.4345084430212635 0.99831739644718 0.3181254745206572 1.0 1.0 14 Q9NR77,P25490 2 |
| Fractures of the long bones 0.7734582984040901 0.9983080934876004 0.3181299842045595 1.0 1.0 3 Q13126 1 |
| Irregular menstruation 0.5602660900857502 0.9961943394752816 0.3191557291979212 1.0 1.0 6 O00170,P04150 2 |
| Short umbilical cord 0.7726890379051592 0.9953592328512738 0.3195615786784715 1.0 1.0 3 O75844 1 |
| Small placenta 0.7726890379051592 0.9953592328512738 0.3195615786784715 1.0 1.0 3 O75844 1 |
| Oculogyric crisis 0.4882811595711721 0.9949919092723064 0.3197401993823399 1.0 1.0 10 Q01105 1 |
| Exercise induced muscle fatigue 0.7703333545955662 0.9863367215786012 0.3239679055590527 1.0 1.0 3 P53985 1 |
| Increased muscle fatiguability 0.7703333545955662 0.9863367215786012 0.3239679055590527 1.0 1.0 3 P53985 1 |
| Abnormal circulating ferritin concentration 0.5581205378375981 0.9863349563142304 0.3239687715160038 1.0 1.0 6 Q7L590 1 |
| Abnormality of peripheral nerves 0.3252702872621203 0.9843135412602764 0.3249613735096637 1.0 1.0 47 O60231,P31930,Q9UBB4,Q8N2K0,Q9NR77,O43681,O15121,Q00796,Q9BYI3,O15269,P07602,Q9Y619 12 |
| Shyness 0.7687630724958834 0.9803289566003404 0.3269237656073041 1.0 1.0 3 Q15233 1 |
| Open mouth 0.363419936529511 0.9783280744759896 0.3279120889304243 1.0 1.0 29 P41091,Q15233,P61978,P63000,Q10713,P62266,P04062,P67870,Q13045,Q01968,Q86XL3 11 |
| Concentric hypertrophic cardiomyopathy 0.7682125396919272 0.9782239353000636 0.3279635808508814 1.0 1.0 3 P03886 1 |
| Abnormal circulating gonadotropin concentration 0.4298139405735381 0.9686226724307824 0.3327334869564957 1.0 1.0 14 P16435 1 |
| Bloody diarrhea 0.5347073334804212 0.968027444701812 0.3330306633877327 1.0 1.0 7 Q6PGP7 1 |
| Peripheral cyanosis 0.5146062635946875 0.9657037051702754 0.33419246494591 1.0 1.0 8 P04066 1 |
| Tongue fasciculations 0.4468446428402114 0.9654640534873824 0.3343124322309636 1.0 1.0 12 Q9H0U9,P51114,Q16637,Q9NQT5,Q13510 5 |
| Abnormal mitochondrial morphology 0.4466751723056872 0.9644563472220118 0.3348171838945606 1.0 1.0 12 P51530,P35637,Q13148,Q13501,P46976 5 |
| Adenocarcinoma of the colon 0.3877239619733696 0.9636012406247946 0.3352458846019657 1.0 1.0 21 P61254 1 |
| Limb girdle muscle atrophy 0.4289016781939721 0.9628612114506856 0.3356171774348349 1.0 1.0 14 Q14331,O14979,P50402 3 |
| Abnormal biliary tract morphology 0.3672422695061619 0.9602383700204504 0.3369352597268555 1.0 1.0 27 O43681,P09601,P21266,Q10713,P04062,P07602,Q14739 7 |
| Mildly elevated creatine kinase 0.3961963428216987 0.956808695332488 0.3386638225751097 1.0 1.0 19 Q13501,P40939,Q06210,Q969X5,P06753 5 |
| Recurrent fever 0.427779862323253 0.9557805902205868 0.3391830965383497 1.0 1.0 14 Q9NR77 1 |
| Gynecomastia 0.402498665725821 0.950867265466262 0.341671760866038 1.0 1.0 18 O00170,Q8NI60,Q8IWS0,Q8WWQ0 4 |
| Abnormal arterial physiology 0.3658329505764919 0.9485615770896604 0.3428436407073909 1.0 1.0 27 Q63HN8,Q9Y4P3,Q9Y3Z3,O75844,Q14739,Q9NWM8 6 |
| Abducens palsy 0.7513232572147546 0.9485602260384828 0.3428443281394311 1.0 1.0 4 O00170,P07602 2 |
| Abnormal circulating dicarboxylic acid concentration 0.3374534264671838 0.9463813391682502 0.3439541198189322 1.0 1.0 40 P48735,O14936,P22695,O75845,P36551,Q9H9P8,P00558,P40855,Q96EY8,P55263,P00390,P08237,Q14739,P23786,P43034 15 |
| Abnormal metabolic brain imaging by mrs 0.4015445910641378 0.9441728689898876 0.3450813171037543 1.0 1.0 18 P00403,P03886,P35610,P07602 4 |
| Sparse or absent eyelashes 0.3746682957095449 0.9429289511892642 0.3457172453106718 1.0 1.0 23 Q14574,O75844,Q9NX24,P46778,P15924,O43175 6 |
| Abnormal sternal ossification 0.7493342676987118 0.9411963666770158 0.3466042383341667 1.0 1.0 4 Q9Y619 1 |
| Ulcerative colitis 0.690773067331675 0.9405532808902336 0.3469338331470035 1.0 1.0 2 O43318 1 |
| Verrucae 0.690773067331675 0.9405532808902336 0.3469338331470035 1.0 1.0 2 P16615 1 |
| Palmar telangiectasia 0.6907730673316751 0.9405532808902336 0.3469338331470035 1.0 1.0 2 Q14739 1 |
| Decreased plasma carnitine 0.4425350508002055 0.9398676146345214 0.3472854709945139 1.0 1.0 12 P40939,O43772,Q08426 3 |
| Insulin resistant diabetes mellitus 0.5087094475493402 0.9362776773443114 0.3491302383459684 1.0 1.0 8 O75844 1 |
| Webbed neck 0.3393137517180037 0.9354625697302104 0.3495499644419966 1.0 1.0 38 P60953,P61254,P18077,P28482,O43318,P61313,Q9Y2B2,P62273,Q06124,O75844,Q13363,P42677 12 |
| Rhabdomyosarcoma 0.5084999033354791 0.9352336230695786 0.3496679143079968 1.0 1.0 8 O43684,P04637 2 |
| Severe muscular hypotonia 0.3612343606669594 0.933933875128142 0.3503380035361427 1.0 1.0 28 Q01105,P40855,P06753,Q9NWM8 4 |
| Toxemia of pregnancy 0.5466618287398582 0.9338397108175892 0.3503865818695673 1.0 1.0 6 Q14739,O43772 2 |
| Congenital sensorineural hearing impairment 0.5275378664629325 0.9337923728785288 0.350411004605907 1.0 1.0 7 P60891,P63000,Q8WWQ0,O43318 4 |
| Abnormality of the thenar eminence 0.3929804473264242 0.9335600015600118 0.3505309059939741 1.0 1.0 19 P61254 1 |
| Abnormal cardiac ventricular function 0.3785419701386303 0.9321228156330204 0.3512730582007943 1.0 1.0 22 P12235,O75844,P00403,P03886,P31040 5 |
| Long fingers 0.295346989514157 0.9304616769085066 0.3521320974673807 1.0 1.0 81 P55795,Q15334,P27635,P16435,Q15555,Q92766,Q06136,P25490,Q9UPP1,P21964,P23786,Q9Y285,Q8WXI9,Q9UHX1,O00170,Q8WWQ0,Q96EK5,Q8IWS0,Q8NCH0 19 |
| Undetectable visual evoked potentials 0.7464129756706133 0.9303960343461554 0.3521660710765233 1.0 1.0 4 P14854,Q9H2M9,Q8TC12 3 |
| Muscle abnormality related to mitochondrial dysfunction 0.3387633119420123 0.9301737130361734 0.3522811499042126 1.0 1.0 38 Q9Y2R0,Q9Y6M9,P14854,P12235,O43676,P51530,Q96CU9,Q86Y39,Q9UBX3,O75380,P00403,P03886,O75306,Q9NP80 14 |
| Central primitive neuroectodermal tumor 0.7551623713303075 0.928531147498006 0.353132118574945 1.0 1.0 3 P04637 1 |
| Hyperglycemia 0.5259349314918971 0.9261553714640832 0.3543652415913605 1.0 1.0 7 O75844 1 |
| Increased circulating gonadotropin level 0.4752236274509621 0.9243100590181502 0.3553249070352571 1.0 1.0 10 P16435,Q96MF7 2 |
| Neoplasm of the stomach 0.3815934253185518 0.9175048288080696 0.3588781637207092 1.0 1.0 21 O43684,O96017,Q8NFG4,P20585,P11802,P04637,P31040,P63167 8 |
| Osteolysis 0.3561899422231195 0.9166922755703856 0.3593039149475467 1.0 1.0 29 O43684,O96017,P48735,P04062,P22626,Q9Y2B2,O75844,Q13501,P04637 9 |
| Atrophy degeneration involving the corticospinal tracts 0.4215585567842201 0.9166063537805748 0.3593489536928445 1.0 1.0 14 Q13501,O00400,P35637,Q9Y4P3 4 |
| Maturity onset diabetes of the young 0.6851620947630964 0.9163092872342954 0.3595046982722105 1.0 1.0 2 P61457 1 |
| Total anomalous pulmonary venous return 0.751480737382501 0.9145888317542404 0.3604075239490285 1.0 1.0 3 Q15392 1 |
| Bilateral polymicrogyria 0.5038359581797335 0.9120264589398164 0.3617547893164681 1.0 1.0 8 Q01105 1 |
| Female hypogonadism 0.7407860945984467 0.9096461363863588 0.3630091590370119 1.0 1.0 4 O75844 1 |
| Hand polydactyly 0.3365635659971339 0.9090728999111968 0.3633116464318235 1.0 1.0 38 O75845,Q9UPP1,Q9UHX1,Q10713,P21964,O43924,Q14739,Q92766,Q15067 9 |
| Hallux valgus 0.4148507003032172 0.9084389441624452 0.3636463579886726 1.0 1.0 15 P04062,P25490,Q15233,Q9Y4P3 4 |
| Soft skin 0.5030687155041906 0.9082146787947876 0.3637648102328334 1.0 1.0 8 Q13126 1 |
| Impaired vibration sensation in the lower limbs 0.4088900696677827 0.9068444180565264 0.3644890771637408 1.0 1.0 16 O00400 1 |
| Retrognathia 0.2988968886490157 0.906447558248178 0.3646990101282235 1.0 1.0 74 Q4J6C6,Q15392,Q9UHX1,P04062,O75844,Q8NCH0,Q96MF7,P27635,P53701,Q9Y619,O43175 11 |
| Abdominal wall muscle weakness 0.7394290775423311 0.9046528862930132 0.3656493080621739 1.0 1.0 4 Q14331 1 |
| Dyspareunia 0.7486747739320465 0.9039871491256892 0.3660022156549289 1.0 1.0 3 O00170,Q8WWQ0 2 |
| Periventricular cysts 0.5399916271391133 0.9034255563120108 0.3663000814745714 1.0 1.0 6 Q9Y285 1 |
| Abnormality of the musculature of the upper limbs 0.2958362609873595 0.9027710080102902 0.366647441150262 1.0 1.0 78 P18077,Q9NR77,P36551,P50402,Q06124,Q14331,P06753,Q9NZJ7,P61254,P61313,Q06210,Q13501,P46976,P62273,P07602,P12235,O75147,Q13642,O14979 19 |
| Abnormal erythrocyte enzyme level 0.3746176498721477 0.9020654243521 0.3670221145338384 1.0 1.0 22 P61254 1 |
| Chorioretinal hypopigmentation 0.7479483392067853 0.901246031200591 0.3674575214893005 1.0 1.0 3 Q9Y619 1 |
| Peripheral demyelination 0.3951805051501579 0.8996431486138832 0.3683101869689191 1.0 1.0 18 Q9NR77,P03886,O43681 3 |
| Lumbar kyphosis 0.7471300456808061 0.8981600712735647 0.3691002170875785 1.0 1.0 3 O95352 1 |
| Asymmetry of the ears 0.7471156844403053 0.898105928870325 0.3691290784822323 1.0 1.0 3 Q9H2M9,Q9UHX1 2 |
| Abnormality of metacarpophalangeal joint 0.7369631295059417 0.8955905404429029 0.3704714897543686 1.0 1.0 4 P16435,Q15233 2 |
| Slow pupillary light response 0.6182333350228719 0.8949967241399893 0.3707888391361256 1.0 1.0 5 Q9NR77,Q9NZJ7,P07602 3 |
| Abnormal pupillary light reflex 0.6182333350228719 0.8949967241399893 0.3707888391361256 1.0 1.0 5 Q9NR77,Q9NZJ7,P07602 3 |
| Lung adenocarcinoma 0.6801745635910268 0.8948598868647455 0.3708619921083922 1.0 1.0 2 P04637 1 |
| Severe demyelination of the white matter 0.7461802307452374 0.8945804987840761 0.3710113803133907 1.0 1.0 3 Q96C36,Q9H9P8 2 |
| Plagiocephaly 0.3428196154587169 0.8934892768270483 0.3715952120714958 1.0 1.0 34 Q15233,P28482,P63000,Q10713,Q9Y3Z3,Q9Y2B2,Q01105,Q96A33,Q969X5 9 |
| Confetti like hypopigmented macules 0.679551122194518 0.892185695638948 0.3722934079982367 1.0 1.0 2 Q15233 1 |
| Abnormality of the subungual region 0.679551122194518 0.892185695638948 0.3722934079982367 1.0 1.0 2 P16615 1 |
| Ketoacidosis 0.4692181696901861 0.8919685494735023 0.3724097900758367 1.0 1.0 10 P35610 1 |
| Retinal dysplasia 0.4997364669962661 0.8916802112782888 0.3725643632130058 1.0 1.0 8 Q10713,P53701 2 |
| Slowly progressive 0.3018664542290862 0.8913311450211899 0.372751544802377 1.0 1.0 56 Q9P0J0,Q8N2K0,Q9NR77,Q96BR5,Q16637,O14979,P50402,Q14331 8 |
| Absent facial hair 0.4836078799431537 0.8861751193571867 0.3755231687530318 1.0 1.0 9 O75844,P15924,O43175 3 |
| Posterior pituitary dysgenesis 0.7438699958988512 0.8858847564989331 0.3756796311173302 1.0 1.0 3 Q9UHX1 1 |
| Progressive pes cavus 0.7326418622770628 0.8797462285090598 0.3789968000114174 1.0 1.0 4 O00400 1 |
| Subvalvular aortic stenosis 0.7326207581836716 0.879668965024759 0.3790386665695922 1.0 1.0 4 O43684 1 |
| Abnormal left ventricular outflow tract morphology 0.7326207581836716 0.879668965024759 0.3790386665695922 1.0 1.0 4 O43684 1 |
| Cutaneous syndactyly 0.482247694427569 0.8791689050927557 0.3793097015166693 1.0 1.0 9 P27635,Q9Y619 2 |
| Abnormal libido 0.7324594798243512 0.879078552334402 0.3793586858700475 1.0 1.0 4 O00170,Q8WWQ0 2 |
| Testicular atrophy 0.6143525741029822 0.8789735814714713 0.3794156002509907 1.0 1.0 5 Q9NX24,P04637,P52788,O76024 4 |
| Abnormal urine hormone level 0.7418504442711816 0.8782959986447143 0.3797831067102231 1.0 1.0 3 P04637 1 |
| Increased urinary cortisol level 0.7418504442711816 0.8782959986447143 0.3797831067102231 1.0 1.0 3 P04637 1 |
| Elevated creatine kinase after exercise 0.6140490320814059 0.8777220985266575 0.3800945490046206 1.0 1.0 5 O43772 1 |
| Horizontal eyebrow 0.515505841632237 0.8766428519038828 0.3806806561377756 1.0 1.0 7 Q9NZN8 1 |
| Reticulocytosis 0.466206653343626 0.8757976718542033 0.3811400359511392 1.0 1.0 10 O14936,P00558,P36551 3 |
| Nemaline bodies 0.731414530094085 0.8752548078867662 0.3814352776426952 1.0 1.0 4 O43676 1 |
| Abnormal pulmonary interstitial morphology 0.3492167012812216 0.8719381148249199 0.383242139158372 1.0 1.0 30 Q9Y285,Q9UJW0,Q86TI2,P09601,P21266,P04062,Q08426,Q13510,Q9NX24 9 |
| Sloping forehead 0.2992693609215009 0.8718211145376628 0.3833059739270779 1.0 1.0 52 O43684,O14936,O75845,Q9UPP1,Q13535,Q15003,P26640,Q13409,P08243,Q92917,P35606,Q96EK5,P23786,Q9HC21,O43175,Q86XL3 16 |
| Abnormal light and dark adapted electroretinogram 0.5144661698254396 0.8717251641883097 0.3833583288152322 1.0 1.0 7 Q15067 1 |
| Abnormal full field electroretinogram 0.5144661698254396 0.8717251641883097 0.3833583288152322 1.0 1.0 7 Q15067 1 |
| Dilated third ventricle 0.7399869837740423 0.8713046561767014 0.3835878288217857 1.0 1.0 3 P26358 1 |
| Abnormal circulating protein concentration 0.3186042964146088 0.8709076608685414 0.3838045735164139 1.0 1.0 150 Q8N511,Q5JRX3,P36551,P22626,Q9Y584,P50402,P53985,Q7L590,Q14331,P06753,P15924,O60231,O95470,Q6PGP7,Q9HC07,Q9Y4P3,Q96BR5,P40939,O00400,P09493,Q06210,Q13501,P23786,P31040,O43772,Q9Y285,Q9BT22,P42166,P12235,Q9NWM8,O14979,Q96AX1 32 |
| Joint contracture of the hand 0.2994803395789081 0.8707837151917087 0.3838722586064986 1.0 1.0 53 Q15392,Q9NR77,O75844,P27635,Q9Y619,P16435,O43175 7 |
| Hypertriglyceridemia 0.3611995768952258 0.8700815177313567 0.3842558572548837 1.0 1.0 25 P22830,O95470,Q9Y285,Q7L590,Q96MF7 5 |
| Adducted thumb 0.3611642796527847 0.8697998047929989 0.3844098181854927 1.0 1.0 25 Q9Y4P3,Q8NCH0,O43175,Q96AA3,Q86XL3 5 |
| Alopecia totalis 0.5318849824979052 0.8666302108984074 0.3861446550193534 1.0 1.0 6 O75844,P15924 2 |
| Abnormality of the auditory canal 0.3695447311812857 0.8633749110772564 0.3879313690634867 1.0 1.0 22 P16435,Q9Y619,P61254 3 |
| Ophthalmoparesis 0.2935274381038004 0.8623153296813048 0.3885140192505942 1.0 1.0 77 Q9H0U9,Q96HR9,P03886,Q15555,Q14331,P08559,P06753,Q9P0J0,P01889,Q10713,Q06210,P31040,O95299,Q8N183,O00170,P04062,P00403,P12235,O75306,O43172,Q13472,P51530,Q96CU9,P26640,O95352 25 |
| Malrotation of small bowel 0.727499620735869 0.8609548830698668 0.3892628922543975 1.0 1.0 4 Q8NCH0 1 |
| Abnormal glial cell morphology 0.2994494855185744 0.8600128291658071 0.3897819706382448 1.0 1.0 58 Q13144,O96017,P48735,Q9H9P8,Q16658,Q7LBC6,Q10713,P49770,P35637,P04062,P52701,P20585,Q13148,O75306,Q13501,P04637,P08559,P25490 18 |
| Hemangiomatosis 0.6717581047381591 0.8588964677872076 0.3903976383529821 1.0 1.0 2 P48735 1 |
| Lymphangioma 0.6717581047381591 0.8588964677872076 0.3903976383529821 1.0 1.0 2 P48735 1 |
| Visceral angiomatosis 0.6717581047381591 0.8588964677872076 0.3903976383529821 1.0 1.0 2 P48735 1 |
| Psychosis 0.3362459544607524 0.8582164712607518 0.3907729424889883 1.0 1.0 35 Q5JRX3,P00403,P36551,O00170,Q6DKK2,P26358,Q13501,P03886 8 |
| Fasting hyperinsulinemia 0.6090506690954167 0.8571534823908232 0.3913600669245722 1.0 1.0 5 P25490 1 |
| Abnormal circulating fatty acid anion concentration 0.4197196236765776 0.8558481310619008 0.3920817884124203 1.0 1.0 13 P40939,O43772,Q08426 3 |
| Depletion of mitochondrial dna in muscle tissue 0.7259606185664078 0.8553448057425628 0.3923602897063225 1.0 1.0 4 Q9UBX3 1 |
| Abnormal mitochondria in muscle tissue 0.3634032043290346 0.8549510902988405 0.3925782249700762 1.0 1.0 23 O43676,Q86Y39,P00403,P03886,O75306,P31040 6 |
| Abnormal pupil morphology 0.4193262390477965 0.853467772753404 0.3933999519420745 1.0 1.0 13 Q9NR77,P61586 2 |
| Renal agenesis 0.2980392765875278 0.8508991276818781 0.3948253894732803 1.0 1.0 54 Q15392,Q9UHX1,P61254,P62273,P16435,Q86XL3 6 |
| Elevated circulating follicle stimulating hormone level 0.7246149116970892 0.8504447554055491 0.3950778624254503 1.0 1.0 4 P16435 1 |
| Low frustration tolerance 0.4612380232344136 0.8491942476658982 0.3957732135799254 1.0 1.0 10 Q8WXI9,Q9UHX1 2 |
| Long palm 0.7335771214426987 0.847338897352482 0.3968062516512305 1.0 1.0 3 P16435 1 |
| Developmental cataract 0.298278621081894 0.8472899303045276 0.3968335379683068 1.0 1.0 57 P61254,O00400,P62273,Q15800,P03886 5 |
| Abnormal morphology of the limbic system 0.4608627188855095 0.8471888734397779 0.3968898543081367 1.0 1.0 10 Q01105 1 |
| Persistence of hemoglobin f 0.3720575659900924 0.846301716623968 0.3973844504729307 1.0 1.0 21 P61254 1 |
| Nonketotic hypoglycemia 0.5273174017217037 0.8459898045816905 0.3975584319003238 1.0 1.0 6 P25490 1 |
| Generalized hyperkeratosis 0.7227097328873644 0.8435163221761854 0.3989397410984896 1.0 1.0 4 O75844 1 |
| Abnormal mitral valve physiology 0.3295312564344116 0.8420377809763943 0.3997668060630928 1.0 1.0 38 Q9Y4P3,O00170,Q13642,P40939,P04062,P09493,O75844,P53701,O75306,Q96AX1 10 |
| Abnormal sweat gland morphology 0.7320607668171263 0.8416888545327932 0.3999621384898366 1.0 1.0 3 O75844 1 |
| Myoglobinuria 0.4445686315065505 0.8377142295480986 0.4021912197588015 1.0 1.0 11 P46020,P40939,P00558,P08237,P23786 5 |
| Peripheral pulmonary artery stenosis 0.4739246164758841 0.8364471803689736 0.4029033797329775 1.0 1.0 9 Q6PGP7,Q9Y4P3 2 |
| Extrapyramidal muscular rigidity 0.6039085540766409 0.8360745437506899 0.4031129682701695 1.0 1.0 5 Q9Y3Z3 1 |
| Large intestinal polyposis 0.458473780760343 0.8344382708344785 0.4040340587783937 1.0 1.0 10 P20585,O96017,P04637 3 |
| Abdominal aortic aneurysm 0.7300298223193028 0.8341334817505648 0.4042057696689531 1.0 1.0 3 Q96MF7 1 |
| Abnormal nasolacrimal system morphology 0.4160666805843434 0.833777793165152 0.4044062113288005 1.0 1.0 13 P25490,O43175,P53701 3 |
| Capillary hemangioma 0.4877110115787816 0.8323227590367418 0.4052267876091899 1.0 1.0 8 Q9UHX1 1 |
| Hypotension 0.3488111346691075 0.8304311163758328 0.4062950788271786 1.0 1.0 28 O43772,O00170,O43681,P04062,P35610 5 |
| Abnormal circulating fatty acid concentration 0.3699178788664168 0.8304235558102028 0.4062993519712521 1.0 1.0 21 Q08426,P40939,O43772,P40855 4 |
| Generalized clonic seizure 0.5232849845527541 0.8278279473722321 0.4077679449105935 1.0 1.0 6 Q9NZJ7,O14936,P07602 3 |
| Hyperintensity of cerebral white matter on mri 0.3647891369472242 0.8272965316526725 0.4080690091397263 1.0 1.0 22 P17480,Q96C36,Q8NC56,O43681,Q96JI7,P23526,P54136,P07602,P27635,Q96AA3,Q9NZJ7 11 |
| Abnormal chorioretinal morphology 0.3454949257792022 0.8263885995109745 0.4085836884274303 1.0 1.0 29 O60231,P40939,Q10713,P04439,P40855,P53701,Q9Y619 7 |
| Ectopia pupillae 0.601331754570223 0.8255443828311843 0.4090625959460072 1.0 1.0 5 P61586 1 |
| Abnormal vascular physiology 0.3017233676806601 0.8240661696885391 0.4099019612767884 1.0 1.0 50 Q63HN8,P14854,Q14739,Q9Y4P3,P04062,Q9Y3Z3,P04637,O75844,P20674,P00403,P03886,Q9NWM8 12 |
| Supernumerary tooth 0.485736088040403 0.8226268755431154 0.4107202105024174 1.0 1.0 8 P62266,O60488,Q9UHX1,Q9Y2B2 4 |
| Abnormality of the metaphysis 0.2983487100368543 0.8221689048427798 0.410980773511294 1.0 1.0 51 Q9UG56,O96017,P48735,Q9NUQ7,Q13126,Q9HC07,P07237,Q96AX1,P04637,Q9NR45,Q06124,Q9H1A4,Q96MF7,Q9NX24,Q14739,O75147 16 |
| Abnormal fallopian tube morphology 0.5034032606874901 0.8196321770661792 0.4124258246115002 1.0 1.0 7 P04637,P53701 2 |
| Pigmentary retinopathy 0.3012515946485756 0.8188116110366791 0.4128939053336569 1.0 1.0 50 Q9P0J0,P40939,Q15555,Q15067,P53701,P00403,P03886,O75306,P31040 9 |
| Chordee 0.5211012986453498 0.8180176976549094 0.4133470818587912 1.0 1.0 6 P16435 1 |
| Anterior uveitis 0.7252884315559722 0.8165502674142889 0.4141854858531988 1.0 1.0 3 P01889,P14174 2 |
| Oligospermia 0.7251918155324883 0.8161927968516387 0.4143898759532261 1.0 1.0 3 P16435 1 |
| Optic neuropathy 0.3521367777963713 0.8160210140493749 0.4144881170184762 1.0 1.0 26 P03886,O43676,Q9P0J0 3 |
| Mixed demyelinating and axonal polyneuropathy 0.7148402995617344 0.8150118498815566 0.41506552715258 1.0 1.0 4 P03886 1 |
| Vitiligo 0.5023767283558275 0.8148219732267266 0.4151742213636546 1.0 1.0 7 P03886 1 |
| Underdeveloped supraorbital ridges 0.405052256002777 0.8136181646000537 0.4158637285584516 1.0 1.0 14 P16435,Q6PGP7 2 |
| Calcinosis 0.5983472751594072 0.8133769811620312 0.4160019527984029 1.0 1.0 5 Q14739,O75844,Q9H1A4 3 |
| Acanthosis nigricans 0.4395461352796691 0.8098829792262381 0.4180074351920169 1.0 1.0 11 O00170 1 |
| Progressive cerebellar ataxia 0.3248551601042644 0.8096848291080683 0.4181213394868814 1.0 1.0 39 Q9P0J0,Q9UBB4,Q9Y487,Q8NI60,Q9Y619,P42858,P35637,Q96CU9,P13639,Q13148,O75306,Q13501,P08559,P31040,O95299 15 |
| Malignant genitourinary tract tumor 0.3618681672395354 0.8052397932783653 0.4206813173173112 1.0 1.0 22 P61254 1 |
| High frequency sensorineural hearing impairment 0.5960524494962002 0.8040429496593553 0.4213721708319451 1.0 1.0 5 O75844,Q9NWM8 2 |
| Chronic hepatic failure 0.7117302927038733 0.8037997509410997 0.4215126336421235 1.0 1.0 4 P40939 1 |
| Abnormal atrioventricular valve morphology 0.3264869441498554 0.8030141502506872 0.4219665558840033 1.0 1.0 37 Q15233,Q9Y4P3,P55795,P28482,Q06787,P04062,P21964,O75844,P53701,Q92766,P06753,P25490 12 |
| Facial erythema 0.7212347988774807 0.8015813697567856 0.4227951579356714 1.0 1.0 3 O00170,Q9H1A4 2 |
| Mutism 0.3927749244228902 0.8013178714277673 0.4229476473113016 1.0 1.0 16 P42858,P22626,P35637,Q13510,Q13148,P09651,P53701,Q13501 8 |
| Muscle fiber necrosis 0.6580423940149674 0.800984845343696 0.4231404192284524 1.0 1.0 2 O60231 1 |
| Multiple mitochondrial dna deletions 0.6580423940149673 0.8009848453436952 0.4231404192284529 1.0 1.0 2 P12235 1 |
| Nocturia 0.6580423940149673 0.8009848453436952 0.4231404192284529 1.0 1.0 2 P12235 1 |
| Decreased circulating androgen concentration 0.4667130160395399 0.7996637621080834 0.4239056339205604 1.0 1.0 9 P16435 1 |
| Chorioretinal atrophy 0.7102815437528112 0.7985874534824964 0.4245296650710268 1.0 1.0 4 Q9Y619 1 |
| Rimmed vacuoles 0.3974960430488089 0.7978367095449679 0.4249652553205996 1.0 1.0 15 Q13642,O14979,P50402,P22626,Q13501 5 |
| Partial duplication of the phalanx of hand 0.3608127665120222 0.797291102666188 0.4252819864573252 1.0 1.0 22 P61254 1 |
| Frequent falls 0.3187413683335759 0.7960223140019945 0.4260190658304266 1.0 1.0 42 P12235,Q9NR77,O43681,P40939,P04062,Q06210,Q13510,O75787,P07602,P27635,P31040,P06753 12 |
| Persistence of primary teeth 0.4798852865438655 0.794000098286632 0.4271953741301826 1.0 1.0 8 O75844 1 |
| Papilloma 0.4506716891793624 0.7929804482154328 0.4277892141786368 1.0 1.0 10 P20585,P04637,P16615 3 |
| Abnormal lumbar spine morphology 0.4364616164004493 0.7928564809291089 0.4278614449760716 1.0 1.0 11 O95352,P04062,O75845 3 |
| Pulmonary insufficiency 0.5153621942586755 0.7923238553671228 0.4281718654427449 1.0 1.0 6 P15924,Q86TI2 2 |
| Abnormality of hair texture 0.2929185628444849 0.7914228770398584 0.4286972645215445 1.0 1.0 54 Q92994,P55795,P49589,P23526,Q06124,O75844,Q01968,P46778,P15924,Q6PGP7,P26639,Q15436,O75530,O43175,Q8WXI9,Q9Y487,P62266,Q9Y2B2,Q14004,P14923,Q96A33,Q96AX1 22 |
| Abnormality of somatosensory evoked potentials 0.5150581775689622 0.7909665393854277 0.4289635175567263 1.0 1.0 6 P60891,Q9NQZ5,Q9ULM3 3 |
| Appendicular hypotonia 0.7181166198939739 0.7901084911897321 0.4294644113676429 1.0 1.0 3 P60891,P04062 2 |
| Aortic valve calcification 0.7171885442245336 0.7867009597173363 0.4314569421476091 1.0 1.0 3 O75844 1 |
| Mitral stenosis 0.7171885442245336 0.7867009597173363 0.4314569421476091 1.0 1.0 3 O75844 1 |
| Limb ataxia 0.3506225342024803 0.786216016625211 0.43174094427105 1.0 1.0 25 Q9UBB4,P14854,Q9NR77,Q10713,P04062,Q13501,P31040 7 |
| Impaired social interactions 0.2917742918643221 0.7853001410123551 0.4322776131633243 1.0 1.0 52 Q9P0J0,Q9UHX1,O43676,P03886,Q15067 5 |
| Abnormal motor evoked potentials 0.6539900249376607 0.7840563737195738 0.433007032531004 1.0 1.0 2 Q9UNE7 1 |
| Lower limb hypertonia 0.434325581863223 0.7810969918418954 0.434745451036663 1.0 1.0 11 Q14739,O00400 2 |
| Absent eyebrow 0.589601221810949 0.7779095035531556 0.436622365266134 1.0 1.0 5 O75844,P15924 2 |
| Elevated serum acid phosphatase 0.7140629872154668 0.7752499565597744 0.4381919738785989 1.0 1.0 3 Q9NZJ7,P07602 2 |
| Abnormal periventricular white matter morphology 0.310470142768555 0.7740423745433012 0.4389057330338923 1.0 1.0 45 P60953,Q9Y285,Q9UHX1,Q9NXH9,O43681,P63000,O15121,Q53FT3,Q13363,P07602,P27635,O95298,P08559 13 |
| Cardiac conduction abnormality 0.3391805444236592 0.7736924868519397 0.4391126640467144 1.0 1.0 29 O43772,Q13642,P50402,P23786,O75306,P00403,P03886,P46976,P31040 9 |
| Hyperesthesia 0.7133358979809785 0.772591716945345 0.4397640480930729 1.0 1.0 3 P07602 1 |
| Abnormal corneal epithelium morphology 0.3767764647436307 0.7724243680214868 0.4398631258837684 1.0 1.0 18 O75844,Q96EK5 2 |
| Irregular capital femoral epiphysis 0.6511845386533714 0.7723889250847398 0.4398841112767027 1.0 1.0 2 Q9NUQ7 1 |
| Neoplasm of the larynx 0.7021461212329998 0.7694497239147968 0.4416263798336359 1.0 1.0 4 O96017,P04637 2 |
| Progressive spastic paraplegia 0.3413672905830022 0.7692216825252123 0.4417617207741557 1.0 1.0 28 Q9P0J0,O00400,Q96CU9,O75306,P08559,P31040,Q9H2M9,O95299 8 |
| Sparse eyebrow 0.3330975420375901 0.7662881773289539 0.443504851396209 1.0 1.0 32 O75844,P25490,Q96EK5 3 |
| Erythroid hypoplasia 0.3651894264993066 0.7640319050511302 0.4448482297920086 1.0 1.0 20 P61254,P18077,P61313,P62273,P62263 5 |
| Abnormality of the 5th toe 0.4301485021788753 0.7581797889341019 0.4483433589045744 1.0 1.0 11 Q14739,Q10713,O75845 3 |
| Postaxial foot polydactyly 0.4301485021788753 0.7581797889341019 0.4483433589045744 1.0 1.0 11 Q14739,Q10713,O75845 3 |
| Pulmonary artery stenosis 0.3910877340268756 0.7575349717690206 0.4487294222823541 1.0 1.0 15 P27635,Q6PGP7,Q9Y2B2,Q9Y4P3 4 |
| Abnormal gallbladder morphology 0.3339738197788716 0.7573549157713024 0.4488372586675249 1.0 1.0 31 P22830,O75845,O43681,P04062,P40855,P21964,Q96A33,P07602,Q92766 9 |
| Abnormality of the pituitary gland 0.2895949807969307 0.7549024237120282 0.4503075314238014 1.0 1.0 68 Q4J6C6,O14654,Q9Y285,Q9UHX1,Q15233,O00170,Q16658,Q06787,Q8WWQ0,Q96MF7,P16435,P04637,P25490 13 |
| Abnormality of hair pigmentation 0.3503733622352126 0.7546176742909192 0.4504784157460419 1.0 1.0 23 Q13126 1 |
| Poor eye contact 0.3160599572191701 0.7533625204788833 0.4512320984700426 1.0 1.0 41 Q9P0J0,Q9Y6M9,Q9UHX1,O43676,O75380,Q06787,Q8NFG4,Q96CU9,Q86Y39,Q5XKP0,P54136,P03886,O95298,O75306 14 |
| Abnormal lymphocyte morphology 0.3217935122048605 0.7515026061875153 0.4523502329015931 1.0 1.0 36 O95470,Q7L590,Q6PGP7 3 |
| Cardiac diverticulum 0.5827594143474972 0.7503770384697356 0.4530276560697128 1.0 1.0 5 Q16658 1 |
| Sparse eyelashes 0.3791929423523759 0.7500127372772872 0.4532470334484286 1.0 1.0 17 Q9NX24,Q14574,P46778,O75844 4 |
| Pulmonary cyst 0.5051986901421129 0.747169921393786 0.4549609978990632 1.0 1.0 6 Q8NFG4,P15924,Q86TI2 3 |
| Lissencephaly 0.2914581848465875 0.7447275892959896 0.4564364170579496 1.0 1.0 51 O14936,Q15392,Q9Y487,Q13535,Q9HC21,P43034,Q9H2M9,O00139,P35606,Q96EK5,P23786,O43776,O43175,Q86XL3 14 |
| Abnormality of the supraorbital ridges 0.3407380784951134 0.7437103649372028 0.457051717495788 1.0 1.0 27 P16435,Q8IWS0,Q6PGP7 3 |
| Osteoarthritis 0.44130658530532 0.7436409290873432 0.4570937349545199 1.0 1.0 10 O00170,O75844 2 |
| Stomach cancer 0.441277288635188 0.7434873857195236 0.4571866557875108 1.0 1.0 10 O43684,P20585,P04637 3 |
| Increased susceptibility to fractures 0.2941775312266914 0.7407102754128907 0.4588691277107273 1.0 1.0 50 P48735,Q13126,Q9NX24,O75845,Q13501,O14745,P07237,P04062,P22626,P04637,Q08426,Q8WWQ0,P16435,Q14739,P06753 15 |
| Abnormality of small intestinal villus morphology 0.4860061751510521 0.7387441078074272 0.4600623968131652 1.0 1.0 7 Q6PGP7 1 |
| Generalized joint laxity 0.4076601701979676 0.7359114450649792 0.4617845916366367 1.0 1.0 12 Q9UHX1 1 |
| Clonic seizure 0.4849006863280372 0.7336538883844314 0.4631597087208492 1.0 1.0 7 Q9NZJ7,O14936,P07602 3 |
| Frontotemporal dementia 0.4393215247516546 0.7332493786404424 0.4634063435504549 1.0 1.0 10 Q13501,P22626,P09651,P35637 4 |
| Delayed cranial suture closure 0.3327522931978295 0.7328067460652767 0.463676306195556 1.0 1.0 30 P16435,O75844,Q8NCH0 3 |
| Retinal coloboma 0.4254761644985789 0.7326777266174747 0.463755011944825 1.0 1.0 11 O14936,Q9UHX1,Q10713,Q9Y2B2,Q9H2M9 5 |
| Pulmonary interstitial high resolution computed tomography abnormality 0.6909440397906446 0.7297213644439576 0.4655605192490453 1.0 1.0 4 Q13510,Q86TI2 2 |
| Scaphocephaly 0.6902686957155285 0.7273417711726203 0.4670166154106923 1.0 1.0 4 P40855 1 |
| Cortical dysplasia 0.3386333715670243 0.7268736599855514 0.4673033542044122 1.0 1.0 27 P49591,Q96N66,Q9NUQ7,Q96F86,P49815,Q96C86,O00139,O60524,Q2M389,Q14139,P08243,O00571 12 |
| Primitive reflex 0.5002877722111324 0.725528240524109 0.4681280262710197 1.0 1.0 6 P40939 1 |
| Amaurosis fugax 0.4512420343530179 0.7216377093711779 0.4705172484803368 1.0 1.0 9 Q16658,P04637,P52701,Q9ULM3 4 |
| Easy fatigability 0.3459164689449663 0.7207477497044347 0.4710647281338038 1.0 1.0 23 O00170,Q06210,P06753,P31040,Q9NWM8 5 |
| Macrocytic anemia 0.3209444758514566 0.7198372899899479 0.471625182389821 1.0 1.0 35 P61254,P18077,P00374,P61313,P62273,Q6P4A7,P62263,O43175 8 |
| Periventricular white matter hyperintensities 0.4363803087383249 0.7178989849548087 0.4728195737936185 1.0 1.0 10 O43681,P27635 2 |
| Broad forehead 0.3148028015620837 0.7148154365999715 0.4747230953566932 1.0 1.0 39 Q8WXI9,Q6PGP7,O00170,Q8NCH0,P27635,P25490 6 |
| Emotional lability 0.2862161722150984 0.7116717825027774 0.4766680449687022 1.0 1.0 55 Q13144,Q9P0J0,O00170,O43681,P49770,P00558,P35637,Q96CU9,O95299,P09651,P07602,Q13501,O75306,P08559,P31040,Q9NZJ7 16 |
| Focal segmental glomerulosclerosis 0.3446759419279508 0.7113675752165083 0.4768564865132925 1.0 1.0 23 P00403,P03886,O95470 3 |
| Increased mean corpuscular volume 0.3446193841172986 0.7109404274955704 0.4771211524834293 1.0 1.0 23 P61254 1 |
| Abnormal mean corpuscular volume 0.3406453703993952 0.7083229086504352 0.4787447539623615 1.0 1.0 25 P61254 1 |
| Cessation of head growth 0.4962816541083016 0.7079668346663793 0.4789658534111316 1.0 1.0 6 P49770 1 |
| Abnormal circulating citrulline concentration 0.6847332065903033 0.7079076326828845 0.4790026195076469 1.0 1.0 4 Q9Y619 1 |
| Poor head control 0.2837738454220047 0.7071975116397586 0.4794437447160617 1.0 1.0 73 Q6IA86,Q9Y6M9,P23526,Q5XKP0,P03886,P06753,Q9NZJ7,O60231,Q9P0J0,O43676,Q10713,P57678,Q06210,Q86Y39,P54136,P31040,P51970,O95299,O14936,O75380,P07602,O75306,P43034,Q9NWM8,Q15233,P00374,Q96CU9,P13073 28 |
| Adenocarcinoma of the intestines 0.340449873676573 0.7068105470736294 0.4796842193048212 1.0 1.0 25 P61254 1 |
| Morphological abnormality of the corticospinal tract 0.3779848900932259 0.7062670896351134 0.4800220556133119 1.0 1.0 16 Q9Y4P3,O00400,P35637,Q13148,Q13045,Q13501 6 |
| Interrupted aortic arch 0.6349750623441448 0.7058840633363023 0.4802602390065011 1.0 1.0 2 Q8WYQ5 1 |
| Long ear 0.6944184596195817 0.7042250426863155 0.4812926378686311 1.0 1.0 3 Q7LBC6,O75530 2 |
| Abnormal choroid morphology 0.3276719518617103 0.7041941850053174 0.481311851860474 1.0 1.0 31 O60231,P40939,Q10713,P04439,P40855,P53701,Q9Y619 7 |
| Impaired vibratory sensation 0.3256706949823832 0.7027330102473286 0.4822221517605558 1.0 1.0 32 Q9Y619,O00400 2 |
| Stuttering 0.6829436469829967 0.7016522839846387 0.4828960370652952 1.0 1.0 4 P03886 1 |
| Hypokinesia 0.4197326244266178 0.7015378716079309 0.4829674086688973 1.0 1.0 11 P12235,P42858,P04062,P06753 4 |
| Overlapping toe 0.3563688385799118 0.7011990776495349 0.4831787853809071 1.0 1.0 20 P60953,Q9UHX1,P28482,Q96A33,Q9H2M9 5 |
| Weak cry 0.4466134818004516 0.6985679761375193 0.484822062693262 1.0 1.0 9 Q06210,P06753 2 |
| Normochromic anemia 0.3412673424550526 0.6985491933961703 0.4848338044921982 1.0 1.0 24 P61254 1 |
| Nephrotic syndrome 0.3294891906855829 0.6939449528901154 0.4877167310001498 1.0 1.0 29 O95470,Q8NCH0 2 |
| Smooth muscle antibody positivity 0.6318578553616012 0.6932855153602997 0.4881303911884449 1.0 1.0 2 Q96J02 1 |
| Primitive neuroectodermal tumor 0.3648158914016254 0.691412924133542 0.4893060844749846 1.0 1.0 18 O96017,Q16658,Q15555,Q06124,P04637,P25490 6 |
| Bone marrow hypocellularity 0.3418389742458205 0.6899982630902334 0.4901952796281055 1.0 1.0 23 Q9NX24,Q14739,P61254,P62263 4 |
| Hyperactive deep tendon reflexes 0.4442286707312708 0.686736963006713 0.4922484997323906 1.0 1.0 9 Q9NR77,P60891,P31040,O75787 4 |
| Short palpebral fissure 0.3282800615886392 0.684105648303352 0.4939084554398707 1.0 1.0 29 Q9UHX1,P55795,O75844,Q14004,Q9Y619 5 |
| Abnormal circulating cholesterol concentration 0.3192471538730422 0.6836946530321742 0.4941680005816784 1.0 1.0 34 Q8N511,Q15392,O75845,P50402,Q15800,Q14739 6 |
| Abnormality of endocrine pancreas physiology 0.5657304654369035 0.6827753590735813 0.4947488023632402 1.0 1.0 5 P53985,P25490 2 |
| Profound hearing impairment 0.4899580546692542 0.6804284428525843 0.4962332164927119 1.0 1.0 6 Q9NR77,P60891 2 |
| Abnormal intraocular pressure 0.6765538272045923 0.679431151191512 0.4968647175566083 1.0 1.0 4 Q8NCH0 1 |
| Neoplasm by histology 0.2660795829522117 0.6782124243376016 0.497637016057658 1.0 1.0 105 Q9H269,P18077,P11802,P20585,Q06124,P23025,Q15555,P25490,Q13126,Q6PGP7,P61254,Q01844,P61313,Q13501,P31040,O96017,P48735,Q16658,Q8NFG4,P62273,Q9H1A4,P04637,P63167,O43684,Q15392,P42677,O43924,P52701 28 |
| Abnormal tongue physiology 0.3627796023188907 0.6777847088249852 0.4979082077437307 1.0 1.0 18 Q16637,Q13510 2 |
| Pituitary adenoma 0.3781010572687698 0.6770103142635726 0.4983994102368945 1.0 1.0 15 P40818,P48735,P49815,O00170,Q16658,P52701,P25490 7 |
| Elevated hemoglobin a1c 0.6853757405675138 0.6721363067386453 0.5014969247855698 1.0 1.0 3 O75431,Q96MF7 2 |
| Intestinal pseudo obstruction 0.4410323037905855 0.6709420993749254 0.5022574156617088 1.0 1.0 9 P00403,P03886 2 |
| Slow decrease in visual acuity 0.4542178903401042 0.6705079350844368 0.5025340497440862 1.0 1.0 8 P03886 1 |
| Prominent occiput 0.4137566343664549 0.6694064260630102 0.5032362535361123 1.0 1.0 11 O43175 1 |
| Ovarian neoplasm 0.351267237398815 0.6653073979293092 0.5058538997965654 1.0 1.0 20 O96017,P48735,Q01844,Q16658,P20585,P04637 6 |
| Abnormality of the musculature of the lower limbs 0.3307185375931925 0.6641892997686544 0.5065691610638396 1.0 1.0 27 Q9NR77,O14979,Q14331,P50402 4 |
| Muscle fibrillation 0.3758423147133549 0.6631847936969093 0.5072122092137232 1.0 1.0 15 Q16637,Q13510 2 |
| Mitochondrial myopathy 0.3227407871203078 0.6631008013574606 0.5072659974646943 1.0 1.0 31 Q9Y6M9,P12235,O43676,P51530,Q96CU9,Q86Y39,O75380,P00403,P03886,O75306,Q9NP80 11 |
| Oral pharyngeal dysphagia 0.3800864132530892 0.6616384933752082 0.5082029317050933 1.0 1.0 14 Q01105,Q13510,P25490 3 |
| Emg neuropathic changes 0.3302375713926391 0.6604148566068274 0.508987640856116 1.0 1.0 27 Q9NR77,Q16637,O43681,P22626,Q13510,P07602,Q969X5,Q9NZJ7 8 |
| Cataplexy 0.6709295071740549 0.6600261130518574 0.5092370720207835 1.0 1.0 4 O15118,P26358,Q9BTW9 3 |
| Abnormal circulating nucleobase concentration 0.3940401130973394 0.6585056347360486 0.5102132774962977 1.0 1.0 12 Q08426 1 |
| Cardiomegaly 0.3139986587370963 0.6584724576873654 0.510234589342279 1.0 1.0 35 P14854,Q15233,Q9Y4P3,P04062,Q9Y3Z3,P04066,P23786,P20674,Q14739,O95298,P31040 11 |
| Postaxial hand polydactyly 0.3750069748560005 0.6580866273054459 0.5104824682901601 1.0 1.0 15 Q14739,Q10713,O75845 3 |
| Abnormal circulating amino acid concentration 0.2807578652590378 0.6570723212568828 0.5111344152457622 1.0 1.0 53 Q9P0J0,P11182,Q6PGP7,P14854,P55263,P03886,Q9Y619,Q96EY8,O43175 9 |
| Atresia of the external auditory canal 0.3791308851877697 0.6559408607266756 0.5118621762815341 1.0 1.0 14 P61254 1 |
| Abnormal atrioventricular conduction 0.3932297630347999 0.6539534884070054 0.51314177173558 1.0 1.0 12 Q13642,O43772,P31040,P50402 4 |
| Abnormal breath sound 0.4105976328232433 0.6525413672924381 0.5140519957039278 1.0 1.0 11 Q9H0U9,O43318,Q86TI2,P15924,Q96AX1 5 |
| Elevated hepatic transaminase 0.2586372702392856 0.6509255511457155 0.5150945466231516 1.0 1.0 99 Q8N511,O75845,P40939,Q10713,Q13510,Q96MF7,Q14739,Q9Y619,P23786,Q15067,O43772,Q9Y285,Q16658,Q9Y3Z3,P12235,P04637,P40855,O75787,P55263 19 |
| Thickened calvaria 0.43694887158562 0.6508726871899825 0.5151286738516769 1.0 1.0 9 Q8IWS0 1 |
| Abnormality of the gallbladder 0.3086547519279433 0.6481608320309122 0.5168809321652943 1.0 1.0 38 P22830,O75845,Q9Y4P3,O43681,P04062,P40855,P04066,P21964,Q96A33,P07602,Q92766 11 |
| Pure red cell aplasia 0.3448590496966107 0.6481503509038553 0.5168877105039011 1.0 1.0 21 P61254 1 |
| Abnormal circulating porphyrin concentration 0.6673191018257091 0.6476490406067199 0.5172119709044276 1.0 1.0 4 P22830 1 |
| Abnormal delivery 0.335998298027046 0.6463911704523949 0.5180260571527207 1.0 1.0 23 O75844 1 |
| Neoplasm of striated muscle 0.435914948300974 0.6458113040365658 0.5184015663612509 1.0 1.0 9 O43684,O96017,P04637 3 |
| Abnormal scapula morphology 0.2809209888429783 0.644895581854175 0.518994855055956 1.0 1.0 58 P61254,Q9Y619,P50402,P62273,Q06210,P16435,Q14331,P06753 8 |
| Reduced systolic function 0.6662380158990757 0.6439553640231964 0.519604378927681 1.0 1.0 4 P06753,P15924 2 |
| Upper airway obstruction 0.666154299268658 0.6436695777739063 0.5197897214430676 1.0 1.0 4 O75844 1 |
| Foot dorsiflexor weakness 0.3184604947774868 0.6420365546937784 0.5208494486226454 1.0 1.0 32 Q9NR77,Q96BR5,Q13642,Q13501,Q14739,P46976,P06753 7 |
| Skeletal myopathy 0.554486846301592 0.6389670050320173 0.5228443966761878 1.0 1.0 5 P40939 1 |
| Bronchomalacia 0.6647620050825488 0.6389218143501186 0.5228737960854455 1.0 1.0 4 P16435 1 |
| Abnormal urine carbohydrate level 0.389938321701572 0.6355315989691963 0.5250817646221817 1.0 1.0 12 P04066,Q6PGP7 2 |
| Mitochondrial respiratory chain defects 0.6636957622653703 0.6352925219654387 0.5252376498619677 1.0 1.0 4 Q4J6C6,P03886 2 |
| Mitral valve calcification 0.6636829298144096 0.6352488779348486 0.5252661096098199 1.0 1.0 4 O75844 1 |
| Cardiac valve calcification 0.6636829298144096 0.6352488779348486 0.5252661096098199 1.0 1.0 4 O75844 1 |
| Renal phosphate wasting 0.674007589220866 0.6324039917867946 0.5271229262159673 1.0 1.0 3 Q08426 1 |
| Bulbar palsy 0.3817641853465101 0.6313429919459669 0.5278162822000954 1.0 1.0 13 O43681,P06753,P35637,Q13501 4 |
| Abnormal muscle glycogen content 0.6624386787745129 0.6310211037520845 0.5280267257650659 1.0 1.0 4 P46976 1 |
| Abnormality of the plantar skin of foot 0.3044933857481787 0.6307743972174992 0.5281880461201651 1.0 1.0 40 O00170,P42166,Q9Y2B2,P09493,P16615,Q9NX24,Q06136,P31040,P15924 9 |
| Cerebral hypoplasia 0.3705059908128954 0.6307609722871873 0.5281968253453915 1.0 1.0 15 Q86XL3 1 |
| Aplasia hypoplasia of the clavicles 0.3704553641510758 0.630455043559153 0.5283969074039274 1.0 1.0 15 O75844 1 |
| Abnormality of pancreas physiology 0.2978094102546142 0.6274307604688468 0.5303769094903756 1.0 1.0 44 P11182,Q9UHX1,Q14739,P09601,P21266,P53985,Q96MF7,P00403,P03886,P25490 10 |
| Abnormal vitreous humor morphology 0.4775569579273768 0.6271375932238572 0.5305690465892996 1.0 1.0 6 P53701 1 |
| Punctate cataract 0.6718425934778027 0.6249190190412723 0.5320242090220986 1.0 1.0 3 Q8WWV3 1 |
| Abnormal lung lobation 0.3736639737353788 0.623545254294167 0.5329262734629752 1.0 1.0 14 Q14739,P21964,O15111,Q9UHX1 4 |
| Glaucoma 0.2548414717943178 0.6230895828313979 0.5332256548832071 1.0 1.0 97 P61586,Q6PGP7,P61254,Q13535,Q9Y3Z3,P62273,P40855,P21964,Q8NCH0,P53701,Q15555,Q92766,Q06136,Q86XL3 14 |
| Abnormal hemoglobin 0.3275191009066235 0.6227602970695917 0.5334420523530516 1.0 1.0 26 P61254,P62273 2 |
| Gastric ulcer 0.6710938280888437 0.6223366674495652 0.5337205152628945 1.0 1.0 3 P04062 1 |
| Tall stature 0.2781864045019666 0.6187371666207891 0.5360895212675576 1.0 1.0 56 Q8N806,P49591,Q15233,Q9NXH9,O00170,P61978,P42858,P51530,Q9Y2B2,Q15334,Q13363,Q8NCH0,P16435,P06753,Q9NWM8,P43034 16 |
| Prenatal movement abnormality 0.2787222291755611 0.6174724532642606 0.5369231453897823 1.0 1.0 60 Q4J6C6,O15111,Q16637,P40855,Q06210,O75844,Q70HW3,P06753,O43175 9 |
| Absence of pubertal development 0.6566760240290517 0.6115459871955412 0.5408381834061282 1.0 1.0 4 O75844 1 |
| Brisk reflexes 0.3312544128969645 0.611394611921422 0.5409383688288121 1.0 1.0 23 Q5JRX3,O60508,Q8NI60,Q10713,P49589,P20674 6 |
| Ridged nail 0.4577238259837731 0.6108547076274916 0.5412957717782736 1.0 1.0 7 P16615,Q13535 2 |
| Pseudohypoaldosteronism 0.6109725685785593 0.6106791309219148 0.5414120245105847 1.0 1.0 2 Q9H4A3 1 |
| Abnormality of fontanelles 0.2819265447492919 0.6091620183854317 0.5424170530259702 1.0 1.0 50 O15111,P40855,Q9BT22,O75844,Q8NCH0,P16435,Q9Y619 7 |
| Emg myopathic abnormalities 0.3210024173993272 0.6061435526239026 0.5444194323397094 1.0 1.0 28 O60231,P12235,Q13642,P50402,P22626,Q13501,P46976,P06753 8 |
| Cardiovascular calcification 0.4014999160531633 0.604482218600031 0.545523087603704 1.0 1.0 11 P04062,O75844 2 |
| Gliosis 0.3015055309470664 0.6033995982512721 0.5462428894324529 1.0 1.0 40 Q13144,Q9H9P8,Q7LBC6,Q10713,P49770,P35637,P04062,Q13148,O75306,Q13501,P08559,P25490 12 |
| Paraplegia paraparesis 0.2718654511473051 0.602190017165105 0.5470476599676275 1.0 1.0 79 P40818,P56589,Q5XKP0,P08559,Q9P0J0,P26639,O00400,P35637,P60891,Q13510,Q13501,Q6DKK2,Q9Y619,P31040,O95299,Q8N183,P49902,P04062,Q9Y3Z3,Q8WWQ0,O75306,Q9H2M9,Q96CU9,O75787,Q13148 25 |
| Muscle fiber inclusion bodies 0.4133896992592386 0.6001436484056268 0.5484105052601425 1.0 1.0 10 Q06210,O43676 2 |
| Sensory neuropathy 0.3047600702556692 0.5993701406727435 0.5489260840494552 1.0 1.0 36 O60231,P40939,P26358,P22626,P60891,Q8IV08,O15269,P09651,P00403,P03886,Q15067 11 |
| Abnormal aortic valve physiology 0.3047512726105011 0.5992934457514902 0.5489772178040371 1.0 1.0 36 O75844,Q6PGP7 2 |
| Gastrointestinal carcinoma 0.3093068712256154 0.5984473016517388 0.5495415118319553 1.0 1.0 34 O96017,P61254,P18077,P61313,Q8NFG4,P62273,P42677,P04637,P63167 9 |
| Abnormal blistering of the skin 0.3415339712450446 0.5979018278151569 0.5499054402069565 1.0 1.0 20 P36551,Q14574,Q9NX24,Q06136,P15924 5 |
| Hyperplasia of the maxilla 0.6075436408977613 0.597442553014259 0.550211950501978 1.0 1.0 2 Q96CW1 1 |
| Abnormal branching pattern of the aortic arch 0.607543640897761 0.5974425530142583 0.5502119505019785 1.0 1.0 2 Q8WYQ5 1 |
| Abnormal heart valve physiology 0.2667427653228664 0.5970340058784301 0.5504846769188996 1.0 1.0 85 Q86TI2,P28482,O75844,P15924,Q6PGP7,Q9Y4P3,P40939,P09493,P60953,Q9UHX1,O00170,P04062,P53701,O75306,O43684,P14854,Q15233,Q13642,P55263,Q96AX1 20 |
| Dysdiadochokinesis 0.3642304405759696 0.5930959078540949 0.5531169689209867 1.0 1.0 15 Q9UBB4,O75027,Q06787,Q13501,Q6DKK2 5 |
| Coxa valga 0.3282452269693662 0.5894098900040673 0.5555863436829522 1.0 1.0 23 P04066,Q9Y619,O75844 3 |
| Bulbous nose 0.2916087145262764 0.5862580369304212 0.5577021258210357 1.0 1.0 45 P60953,Q96C36,O00571,O75845,Q06787,Q9Y2B2,Q13409,P21964,Q96A33,P16435,Q92766,P23786,P25490,Q96EK5,O75147 15 |
| Tachycardia 0.331724107413111 0.583900601890524 0.5592871882129673 1.0 1.0 22 O43772,P36551,P46976,P23786,P15924,Q96AX1 6 |
| Agnosia 0.4228196061387211 0.5824753034939185 0.5602465717884257 1.0 1.0 9 Q16658,O75787 2 |
| Unsteady gait 0.2867545026046174 0.5806060057132596 0.561506023688646 1.0 1.0 47 O60231,Q13144,Q5JRX3,Q9UBB4,Q9NR77,P42858,Q10713,P52788,P49770,Q7Z460,O75787,P49366,Q69YN2,P31040 14 |
| Arthritis 0.2975447440903347 0.5791109765117798 0.5625142940911183 1.0 1.0 41 P10321,O00170,P04062,Q9Y3Z3,Q13510,P21964,O75844,Q14739 8 |
| Abnormality of the musculature of the hand 0.2988011536765411 0.578859637910078 0.562683886454213 1.0 1.0 40 P61254,P62273 2 |
| Hypoparathyroidism 0.3720197495663166 0.5759669430079163 0.5646375257147245 1.0 1.0 13 P00403,P03886,P40939,P21964 4 |
| Sea blue histiocytosis 0.6570638776382736 0.5745795161784882 0.5655757087448452 1.0 1.0 3 O15118 1 |
| Lipoatrophy 0.3343226461335775 0.5741857543532288 0.5658421082708152 1.0 1.0 21 Q9Y3Z3,P04066,P42166,P31040,P15924 5 |
| Plantar hyperkeratosis 0.3100687817930723 0.5728761309727161 0.566728567033441 1.0 1.0 32 P42166,Q9Y2B2,P09493,P16615,Q9NX24,Q06136,P31040,P15924 8 |
| Muscular dystrophy 0.3207845421166059 0.571735721095141 0.5675010304055712 1.0 1.0 26 O43684,Q13642,O14979,P50402,P22626,P09651,Q14331,O43175 8 |
| Dental crowding 0.3140423495647668 0.5704687886393774 0.5683597853301103 1.0 1.0 29 Q13535,Q01105,Q96A33,O75844,P27635,P06753 6 |
| Abnormal cortical bone morphology 0.346177674268046 0.5688427412837179 0.5694628659867496 1.0 1.0 18 Q86XL3 1 |
| Cerebral calcification 0.3076658050028575 0.5679580513144069 0.5700634523118102 1.0 1.0 33 P00403,O75845,Q9Y3Z3,Q9NX24,P03886,P23786,O43175 7 |
| Vertebral fusion 0.3773577169475581 0.5662158549576064 0.5712470531463154 1.0 1.0 12 Q9UHX1 1 |
| Weakness of muscles of respiration 0.3032189381046075 0.5655635657674565 0.571690501374337 1.0 1.0 35 P36551,P12235,Q13642,P50402,P22626,Q15067,Q06210,Q13510,P09651,Q969X5,P06753 11 |
| Moderate global developmental delay 0.4190941904245752 0.5647400766661835 0.5722505707451455 1.0 1.0 9 O43175 1 |
| Pelvic kidney 0.4313738504570256 0.5643837949515148 0.5724929649400081 1.0 1.0 8 Q9UHX1 1 |
| Abnormality of primary teeth 0.3590750611767486 0.5625665235969807 0.5737300929177434 1.0 1.0 15 O75844 1 |
| Goiter 0.4465402949584702 0.5618753270253445 0.5742009651116948 1.0 1.0 7 P12235,P48735,O75874 3 |
| Transient ischemic attack 0.4184102381636796 0.5614987412363297 0.5744575881835166 1.0 1.0 9 O75844 1 |
| Mask like facies 0.3932008418457828 0.5613760135783681 0.5745412322439662 1.0 1.0 11 Q14331,P04062,O75787 3 |
| High pitched voice 0.3690965519821232 0.559590571088126 0.5757587377202851 1.0 1.0 13 P07237,O75844 2 |
| Megaloblastic anemia 0.4453525477272008 0.5567358424167701 0.577707924273188 1.0 1.0 7 P00374,Q99707,O43175,O76024 4 |
| Abnormal larynx morphology 0.3110612685210321 0.5566734313240363 0.5777505727537957 1.0 1.0 30 P27635,Q9UHX1,Q13510,P21964,P07602,P16435,Q14739 7 |
| Status epilepticus with prominent motor symptoms 0.6513875896476409 0.5556157773113283 0.5784735434883299 1.0 1.0 3 Q13510,Q96RR1 2 |
| Abnormal lower motor neuron morphology 0.4168032413957696 0.5539013814964512 0.5796463396107474 1.0 1.0 9 Q96JI7,P35637,Q13510,Q13148,Q13501 5 |
| Ventricular fibrillation 0.6503318550684831 0.552112659232464 0.5808711691938517 1.0 1.0 3 P46976 1 |
| Epiphyseal stippling 0.3674230319204811 0.5502677559673403 0.5821357365736541 1.0 1.0 13 P38435,P40855 2 |
| Localized hirsutism 0.6380916298811345 0.5500071445321153 0.5823144732395489 1.0 1.0 4 P27635 1 |
| Abnormal aortic valve morphology 0.2929173061688364 0.5497830507949255 0.5824681852470699 1.0 1.0 42 O75844,Q6PGP7,P61254 3 |
| Abnormal number of erythroid precursors 0.3177187325811612 0.5488373579666364 0.5831170702965134 1.0 1.0 26 P62263,P04637,P61254,P62273 4 |
| Macrovesicular hepatic steatosis 0.5300532622450078 0.546495011074109 0.5847257161410997 1.0 1.0 5 Q96AX1,P23786,Q5XKP0 3 |
| Elevated circulating long chain fatty acid concentration 0.5300522942059456 0.5464914304887045 0.5847281767467896 1.0 1.0 5 P40855 1 |
| Leukodystrophy 0.2724589056165994 0.5461982001006378 0.5849297032543044 1.0 1.0 63 Q9Y6M9,Q9BYI3,P03886,P08559,Q9NZJ7,Q9P0J0,O43676,Q86Y39,P54136,P07814,Q15067,P31040,O95299,Q9Y3Z3,Q53FT3,O75380,P07602,O75306,Q96C36,P14854,O43681 21 |
| Headache 0.2718620853640856 0.5454129740705614 0.585469519271502 1.0 1.0 68 Q9NQZ5,P00403,O00170,Q16658,P04062,Q9Y3Z3,P00558,P06753,P23786,P12235,P03886,P31040 12 |
| Mitochondrial inheritance 0.6478312738265755 0.543845931742563 0.5865474982049435 1.0 1.0 3 P03886 1 |
| Ecchymosis 0.365990530426374 0.5423189354917527 0.5875988133347019 1.0 1.0 13 O00170,Q8NCH0,P38435 3 |
| Chondrosarcoma 0.6473339569691205 0.5422070302427412 0.5876758927762147 1.0 1.0 3 P48735,O75874 2 |
| Ventricular tachycardia 0.3726231822479361 0.5406298222357322 0.5887627582243202 1.0 1.0 12 O43772,P46976,P23786,P15924 4 |
| Aplasia hypoplasia of the distal phalanges of the hand 0.3023327984585651 0.5401793321260248 0.5890733645295356 1.0 1.0 34 P16435,Q8IWS0,O75844,P38435 4 |
| Ovarian carcinoma 0.6466999363594295 0.5401201417124514 0.5891141810688247 1.0 1.0 3 P04637 1 |
| Functional intestinal obstruction 0.6466999363594295 0.5401201417124514 0.5891141810688247 1.0 1.0 3 P04637 1 |
| Peritoneal abscess 0.6466999363594295 0.5401201417124514 0.5891141810688247 1.0 1.0 3 P04637 1 |
| Extrahepatic cholestasis 0.6466999363594295 0.5401201417124514 0.5891141810688247 1.0 1.0 3 P04637 1 |
| Increased muscle glycogen content 0.591645885286789 0.537417145899762 0.5909795023811415 1.0 1.0 2 P08237 1 |
| Decreased facial expression 0.3161081698828397 0.536896964796992 0.5913387876931351 1.0 1.0 26 P12235,Q06787,P04062,O75787,Q969X5,Q14331,P06753 7 |
| Prominent supraorbital ridges 0.3648060813575361 0.5357688201752037 0.5921183337395177 1.0 1.0 13 O43318,Q13642,Q8IWS0,Q9UPP1 4 |
| Pulmonary infiltrates 0.4248375968168405 0.5348551278242705 0.5927500391016121 1.0 1.0 8 Q13510 1 |
| Spastic gait 0.315810797057769 0.5346991986871666 0.5928578756882077 1.0 1.0 26 O00400 1 |
| Lower limb hyperreflexia 0.3354667492607854 0.5340877627943145 0.5932808157849863 1.0 1.0 19 Q14739,O00400,P31040,P13073 4 |
| Sensory axonal neuropathy 0.3541468021027125 0.533761009030667 0.5935068932916026 1.0 1.0 15 O60231,Q15067,P22626,P09651 4 |
| Biliary tract abnormality 0.3042129531017818 0.5257117334286502 0.5990885101492676 1.0 1.0 32 O43681,P09601,P21266,Q10713,P04062,P07602,Q14739 7 |
| Abnormality of chorioretinal pigmentation 0.5241857691004691 0.5249249220783134 0.5996353836241393 1.0 1.0 5 Q9Y619,Q96AX1 2 |
| Retinal pigment epithelial mottling 0.6406939255319138 0.5204936802628457 0.6027195315195564 1.0 1.0 3 O60231 1 |
| Blepharophimosis 0.2757549081493853 0.5189136277681214 0.6038209740350544 1.0 1.0 49 P61586,Q8WXI9,Q9Y4P3,Q13535,Q8IWS0,O75844,Q15555,Q9Y619 8 |
| Visual field defect 0.2863098870109732 0.5185858111125494 0.6040496057514344 1.0 1.0 44 O00170,Q16658,Q15555,P04439,P40855,P00403,P03886,P31040 8 |
| Abnormal size of the clitoris 0.3295505800765951 0.5171996297227218 0.6050168104893849 1.0 1.0 20 P16435,P40855,Q9Y619,P53701 4 |
| Multiple lentigines 0.6271838713090887 0.5148759208161632 0.6066397281677018 1.0 1.0 4 P28482 1 |
| Bladder diverticulum 0.4355253188450012 0.5147127862748211 0.6067537371572158 1.0 1.0 7 Q9NWM8 1 |
| Male hypogonadism 0.3957496881949944 0.5131388874950686 0.6078541710266159 1.0 1.0 10 O00170,Q8WWQ0 2 |
| Generalized muscle weakness 0.3041307008998585 0.5130068744705732 0.6079465119433054 1.0 1.0 31 P12235,P40939,P35637,Q13148,P09651,Q13501,P31040,P06753,P25490 9 |
| Aplasia hypoplasia involving bones of the thorax 0.2932823209792269 0.512485933429302 0.6083109625645524 1.0 1.0 38 Q9UHX1,O75844,P16435,Q14739,Q9Y619 5 |
| Limited hip movement 0.3542045175228661 0.5114607616361585 0.6090284573940599 1.0 1.0 14 O75844 1 |
| Aplasia hypoplasia of the breasts 0.407657601734444 0.5111794589320976 0.6092254006892264 1.0 1.0 9 Q9Y619 1 |
| Abnormal sensory nerve conduction velocity 0.4484911456904934 0.5067367955713472 0.6123395091503863 1.0 1.0 6 Q9NR77,O15269,Q9Y3E5 3 |
| Abnormality of pain sensation 0.3039547453072609 0.5014191608003314 0.6160761576144231 1.0 1.0 30 P17480,Q9NR77,P61978,Q06787,Q9H4A3,Q00796,P60891,O15269,Q13045,Q8NCH0,P07196,P31040,P25490 13 |
| Spinal muscular atrophy 0.381356141381235 0.5012471402888012 0.6161972017099802 1.0 1.0 11 Q16637 1 |
| Abnormal tricuspid valve morphology 0.3651780045105883 0.5010177544790897 0.6163586277571147 1.0 1.0 12 Q92766,P21964,P25490,P53701 4 |
| Abnormality on pulmonary function testing 0.3269566088455919 0.5001126874558425 0.6169957329955171 1.0 1.0 20 Q14331,Q9Y285 2 |
| Abnormal brainstem mri signal intensity 0.3154810604805159 0.4982683638107561 0.6182949029613876 1.0 1.0 23 Q9Y6M9,O43676,O75380,Q96CU9,Q86Y39,Q969Y2,P03886,O75306 8 |
| Abnormality of the amniotic fluid 0.2569834465046856 0.4961155817883253 0.6198128663229518 1.0 1.0 87 P27635,Q9Y285,Q6PGP7,Q9UHX1,P40939,Q9BT22,P21964,O75844,P23786,Q70HW3,P16435,Q14739,P06753,O43175 14 |
| Elevated pulmonary artery pressure 0.3120669264563478 0.4947783368574991 0.6207565976373401 1.0 1.0 25 P14854,P04062,O75844,P20674,P00403,P03886,Q96AX1 7 |
| Abnormal social behavior 0.2666091280597924 0.494488131532132 0.6209614862169905 1.0 1.0 71 Q9P0J0,Q9Y6M9,O60508,Q9UHX1,Q9Y4P3,Q15233,O43676,O43681,Q86Y39,P07602,P03886,O95298,O75306,Q15067 14 |
| Axonal regeneration 0.6321661140174804 0.4930849846306223 0.6219525399786376 1.0 1.0 3 P54577 1 |
| Myopathic facies 0.4449980099823321 0.4927678601863345 0.6221766225667431 1.0 1.0 6 P06753 1 |
| Vascular skin abnormality 0.2662587616878283 0.4927257911434667 0.6222063515095508 1.0 1.0 120 P04066,O75844,Q9NX24,P03886,Q14331,Q06136,Q63HN8,Q13126,P21964,Q14739,O00170,P04062,Q9Y3Z3,P38435,P53701,P00403,Q9NWM8,P22830,P51648,Q13535,Q8NCH0,P78536 22 |
| Abnormal circulating hormone concentration 0.2467323462481733 0.4914787121220387 0.6230879049267894 1.0 1.0 96 Q13144,Q4J6C6,O14654,O00170,P40939,P49770,P04637,P53985,Q8WWQ0,O75844,Q96MF7,P16435,Q15555,P31040,P25490 15 |
| Nasolacrimal duct obstruction 0.4442007705981859 0.4895965809792714 0.6244193963240674 1.0 1.0 6 P25490 1 |
| Neoplasm of the pituitary gland 0.3284979261211139 0.4890419826482797 0.6248119746530569 1.0 1.0 19 O00170,Q16658,P25490 3 |
| Abnormality of the pancreas 0.2625055188350456 0.4888477337156744 0.6249495010124302 1.0 1.0 79 Q9UJW0,P11182,Q6PGP7,Q9UHX1,Q01844,Q14739,P09601,Q9NX24,P21266,Q16658,P11802,P53985,Q96MF7,P00403,P03886,P25490 16 |
| Weak voice 0.5130616785883717 0.4847961507216224 0.6278209534892896 1.0 1.0 5 P04062 1 |
| Abnormality of visual evoked potentials 0.3174078513285191 0.484374849429363 0.6281198643261829 1.0 1.0 22 O43681,Q15067,P14854 3 |
| Reduced brain n acetyl aspartate level by mrs 0.6292710039067756 0.4839072487375671 0.6284516957471324 1.0 1.0 3 P07602 1 |
| Abnormal brain choline level by mrs 0.6292710039067756 0.4839072487375671 0.6284516957471324 1.0 1.0 3 P07602 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.6292710039067756 0.4839072487375671 0.6284516957471324 1.0 1.0 3 P07602 1 |
| Blurred vision 0.6172681849200842 0.4836379816920806 0.628642814369492 1.0 1.0 4 P03886,P04439 2 |
| Malignant neoplasm of the central nervous system 0.3069243605555173 0.4834333921145622 0.6287880432780337 1.0 1.0 27 O96017,P48735,Q16658,P04637,P20585,Q06124,Q15555,P25490 8 |
| Cupped ear 0.3551867236052689 0.4833647319859078 0.628836785224467 1.0 1.0 13 Q15392,Q02127,P52788,Q9Y2B2,P78318 5 |
| Abnormally lax or hyperextensible skin 0.2854535100242766 0.4826609305744994 0.6293365083340712 1.0 1.0 42 Q9UHX1,Q9Y4P3,P04062,P38435,Q8NCH0,Q15555,P25490,Q9NWM8 8 |
| Horseshoe kidney 0.2740696251126907 0.479092047513447 0.6318731469354515 1.0 1.0 48 Q00839,O15111,Q9UHX1,P61254,P62273,Q8NCH0,P16435 7 |
| Abnormal brain lactate level by mrs 0.3760130408898246 0.4747238004925901 0.6349838514681152 1.0 1.0 11 P00403,P03886 2 |
| Abnormal parietal bone morphology 0.6143499729419241 0.474578355890059 0.6350875364310378 1.0 1.0 4 Q9Y2B2 1 |
| Delayed puberty 0.2643683442168653 0.4736628037348022 0.635740382119609 1.0 1.0 55 P27635,O00170,Q8IWS0,O75844,Q15800,P16435 6 |
| Simple ear 0.6139397112811162 0.4733097183156857 0.6359922296916871 1.0 1.0 4 P16435 1 |
| Abnormal pleura morphology 0.3185565535567189 0.4675953952710265 0.6400739584815516 1.0 1.0 21 P14174,Q8NFG4,Q06124,Q8NCH0,Q92917,Q14739 6 |
| Glioblastoma multiforme 0.398074371149238 0.4674355993919107 0.6401882577901346 1.0 1.0 9 O96017,Q16658,P04637 3 |
| Confusion 0.3250001335158843 0.4668292153258426 0.6406220717811444 1.0 1.0 19 P26358,P40939,Q9Y619 3 |
| Toe walking 0.3080706158253489 0.4664082179870134 0.6409233302632582 1.0 1.0 25 O43681,Q13642,P40939,P50402,P07602,P06753,Q9NZJ7 7 |
| Cough 0.3107850558879914 0.4657086255239882 0.6414240774592788 1.0 1.0 23 Q9Y285,Q86TI2,Q9NR77,P04062,P35610,P15924 6 |
| Abnormal lacrimal duct morphology 0.4235637856049501 0.464873358212759 0.6420221503144081 1.0 1.0 7 P25490 1 |
| Enamel hypoplasia 0.341969395924972 0.4643588146931445 0.6423906923298957 1.0 1.0 15 P61586,P51648 2 |
| Macular purpura 0.3456242921360803 0.4639350526025821 0.6426942782427405 1.0 1.0 14 O00170,Q8NCH0,P38435 3 |
| Abnormal blood gas level 0.6227003429996955 0.4633266404769791 0.6431302529997109 1.0 1.0 3 P06753,Q9Y3E5 2 |
| Aplasia hypoplasia of the 5th finger 0.33799703608535 0.4630870084597134 0.6433020017834774 1.0 1.0 16 Q9NZN8 1 |
| Paroxysmal involuntary eye movements 0.317482236898562 0.4605400539033235 0.6451286284601923 1.0 1.0 21 P03886,O43676 2 |
| Progressive spastic quadriplegia 0.396283094603462 0.4593846682657153 0.645957956157484 1.0 1.0 9 O43681,P43034,P07602 3 |
| Airway obstruction 0.3373170840682818 0.4591867799849702 0.6461000431638235 1.0 1.0 16 P09601,P21964,O75844,P16435,Q92766 5 |
| Broad palm 0.407596954657533 0.459118461381993 0.6461491000311912 1.0 1.0 8 Q13642,Q14739 2 |
| Mandibular aplasia 0.6088949199962086 0.4578130407759638 0.6470867659667554 1.0 1.0 4 Q9Y619,P53701 2 |
| Myositis 0.3956051367596981 0.4563483611543245 0.6481394927383339 1.0 1.0 9 Q9Y3Z3,P22626 2 |
| Elfin facies 0.4357221629392477 0.4562741483518251 0.6481928513478263 1.0 1.0 6 Q9Y285 1 |
| Focal t2 hyperintense brainstem lesion 0.3201766695940529 0.4561729205767773 0.6482656364916854 1.0 1.0 20 P03886,O43676 2 |
| Abnormal prostate morphology 0.4067693471738658 0.4555688155880713 0.6487000720043365 1.0 1.0 8 P04637,Q8IWS0 2 |
| Abnormal morphology of myocardial trabeculae 0.6078075561033858 0.4544982083490771 0.6494702811845263 1.0 1.0 4 P31040,Q15233 2 |
| Corneal opacity 0.2631054578141547 0.4544865057108175 0.6494787022916308 1.0 1.0 57 O15111,O75845,P51648,P40855,P04066,Q13510,O75844,P53701,Q06136 9 |
| Childhood onset 0.2774582103067285 0.4537530665477995 0.6500065674625342 1.0 1.0 45 P22830,Q5JRX3,Q9NR77,P50402,P62273,O95298 6 |
| Middle age onset 0.3831422725074656 0.4532103943787147 0.6503972483941238 1.0 1.0 10 Q9NZJ7,P31930,P31040,P07602 4 |
| Absent hair 0.3830707364996873 0.452876411049775 0.6506377376849264 1.0 1.0 10 O75844 1 |
| Hallucinations 0.2637221337890182 0.4509620320022592 0.6520169138613805 1.0 1.0 51 P12694,Q9BQE5,P11182,P36551,O43681,Q16658,P04062,P35637,P21964,Q13148,Q9NWW5,Q13501,Q6DKK2,P52701,P07602,Q9NZJ7 16 |
| Focal t2 hyperintense basal ganglia lesion 0.3157365742006777 0.4491381029202888 0.6533320353072045 1.0 1.0 21 Q9P0J0,Q96CU9,O75306,P03886,P08559,P31040,O95299 7 |
| Action tremor 0.2621462850681074 0.4446437405986377 0.6565772321860446 1.0 1.0 57 Q8NC56,Q5JRX3,P22307,Q9NR77,Q9BYI3,P03886,Q9NZJ7,Q9UBB4,P26639,Q06787,P35637,P54136,P07814,Q8N2K0,P07602,O75027,Q69YN2,O75306,Q15233,O43681,Q6PJG6,O75787 22 |
| Paresthesia 0.3063207134096783 0.4439987091376646 0.6570435171931095 1.0 1.0 24 Q9NR77,Q16658,O00170,P25490 4 |
| Thoracolumbar scoliosis 0.4183764554269294 0.4437506015282471 0.6572229065912134 1.0 1.0 7 P27635 1 |
| Aplasia hypoplasia of the uterus 0.3340981722152608 0.4408537713664575 0.6593188627414688 1.0 1.0 16 Q8WWQ0,P53701 2 |
| Degeneration of the striatum 0.6022971147393409 0.4378413137845949 0.6615013200083508 1.0 1.0 4 Q9Y3Z3 1 |
| Lambdoidal craniosynostosis 0.6143991573939763 0.4378386586106726 0.6615032448946114 1.0 1.0 3 P16435 1 |
| Decerebrate rigidity 0.4994406637627621 0.4371482945355718 0.6620038048906545 1.0 1.0 5 O43681,P07602 2 |
| Shallow orbits 0.3795117078165522 0.436352060448944 0.6625813153123725 1.0 1.0 10 O75844 1 |
| Soft tissue sarcoma 0.289372667310295 0.4360246873005825 0.6628188180479864 1.0 1.0 34 O43684,O96017,Q15392,Q13126,Q8NFG4,Q06124,P04637,P63167 8 |
| Abnormal renal tubule morphology 0.3091449402277397 0.4291640747261978 0.6678038252007219 1.0 1.0 22 Q9Y4P3,Q16658,P03886,O75306,P23786 5 |
| Hypoplasia of the uterus 0.400317943199787 0.4281926652172251 0.6685108559528683 1.0 1.0 8 P53701 1 |
| Abnormal blood chloride concentration 0.6111630807608319 0.4280635557022659 0.6686048491872185 1.0 1.0 3 Q9UNF1,Q9H4A3 2 |
| Increased intramyocellular lipid droplets 0.4144547704059155 0.4279928226446753 0.6686563458817103 1.0 1.0 7 Q8NI60 1 |
| Enlarged thorax 0.3187587843051334 0.4279100658672033 0.6687165983381118 1.0 1.0 19 P28482,Q96AX1,P04066,O75844,Q92917,Q14739,O75147 7 |
| Abnormality of circulating glucocorticoid level 0.3445010694405773 0.4269743973607596 0.6693979758084003 1.0 1.0 13 P16435,P04637 2 |
| Abnormal peripheral myelination 0.288060856062975 0.4258226969391964 0.6702370469517986 1.0 1.0 34 O60231,Q9NR77,O43681,P26358,Q9BYI3,O15269,P07602,P03886 8 |
| Distal arthrogryposis 0.4277344063516943 0.4255942642745538 0.6704035204743357 1.0 1.0 6 P25490,Q8NCH0 2 |
| Abnormal b cell subset distribution 0.610329318478821 0.4255600285919662 0.6704284716051454 1.0 1.0 3 P17812 1 |
| Bifid uvula 0.2810902494982513 0.4247429433561693 0.6710240750881897 1.0 1.0 40 Q15392,Q9Y619,Q6PGP7 3 |
| Honeycomb lung 0.6094884292889502 0.4230413813659678 0.6722650693876557 1.0 1.0 3 Q86TI2 1 |
| Crackles 0.6094884292889502 0.4230413813659678 0.6722650693876557 1.0 1.0 3 Q86TI2 1 |
| Spastic paraplegia 0.2580177027793922 0.421605875361127 0.6733127170789399 1.0 1.0 52 Q9P0J0,O00400 2 |
| Synostosis involving digits 0.6085543159527969 0.4202509383969486 0.6743021464992776 1.0 1.0 3 Q15233 1 |
| Premature graying of hair 0.3979673292149275 0.4183518959426186 0.6756898517331709 1.0 1.0 8 Q13126 1 |
| Resting tremor 0.3169154386995046 0.4166013411224936 0.6769700282294879 1.0 1.0 19 P31930,P26358,Q06787,P04062,O75787,P07602,P12235 7 |
| Melanoma 0.325667294040216 0.4162768944142508 0.6772073980074274 1.0 1.0 17 P11802,Q06124,Q9H1A4,P23025,P04637 5 |
| Nephrogenic diabetes insipidus 0.5561097256857921 0.4124587433228548 0.6800032142412096 1.0 1.0 2 Q9H267 1 |
| Hyperkalemia 0.5935727412690258 0.4119690857809233 0.6803620822782743 1.0 1.0 4 P04075,Q9H4A3 2 |
| Scrotal hypoplasia 0.309820143548401 0.4110940626060205 0.6810035634762688 1.0 1.0 21 Q9H0U9,Q8TCJ2,Q8IWS0,P16435,Q15555 5 |
| Gaze evoked nystagmus 0.3849278994545542 0.4093486672932295 0.6822838050990707 1.0 1.0 9 Q10713,P31040 2 |
| Progressive psychomotor deterioration 0.3848910050363092 0.4091890436714679 0.6824009342088211 1.0 1.0 9 O43681,Q10713,P07602 3 |
| Abnormality of the periorbital region 0.2578347782956118 0.4083978979517684 0.6829815764176983 1.0 1.0 74 Q8WXI9,Q6PGP7,Q9UPP1,Q9Y4P3,O00170,P62266,Q8IWS0,P40855,P16435,Q14331,P25490,Q96AX1 12 |
| Macular atrophy 0.4227022708933186 0.406645649495073 0.6842682642418079 1.0 1.0 6 P04062 1 |
| Bruising susceptibility 0.2900234127666277 0.4059819162718379 0.6847558876890321 1.0 1.0 31 O00170,Q13126,Q8NCH0,Q9NWM8 4 |
| Abnormal oral frenulum morphology 0.3347886484144304 0.4058951427875232 0.6848196470936749 1.0 1.0 14 O15111,O75844 2 |
| Thoracic hypoplasia 0.2921244957909089 0.4058701979682372 0.6848379764589403 1.0 1.0 29 Q9UHX1,P04062,P16435,Q14739,P06753 5 |
| Abnormal motor nerve conduction velocity 0.3088168056283982 0.4047381769928163 0.6856699766318559 1.0 1.0 21 Q9NR77,O15121 2 |
| Abnormality of the thyroid gland 0.2479651621956903 0.4046797075435955 0.6857129602197323 1.0 1.0 107 O14654,P20585,P04066,P27635,P03886,Q92766,P25490,O95470,Q6PGP7,Q9Y4P3,P21964,Q8N806,Q9Y285,O00170,Q16658,Q9Y3Z3,Q8WWQ0,P00403,P12235 19 |
| Self mutilation 0.3461232858050789 0.403627540694457 0.6864866302888193 1.0 1.0 12 Q8WXI9,Q10713 2 |
| Proximal upper limb amyotrophy 0.3942888355781497 0.4031015729553916 0.6868735035052118 1.0 1.0 8 O14979 1 |
| Abnormality of the musculature of the upper arm 0.3942888355781497 0.4031015729553916 0.6868735035052118 1.0 1.0 8 O14979 1 |
| Acantholysis 0.4893559044408291 0.4030277019314205 0.6869278455780741 1.0 1.0 5 P01889,P16615,P15924 3 |
| Respiratory distress 0.2587960137645277 0.4029209126428381 0.6870064063215748 1.0 1.0 51 O60231,Q8TCJ2,Q9UHX1,P04062,Q13510,Q96EY8,O75306,P53701,Q969X5,P03886,Q9Y619,P23786,P07602,Q96AX1 14 |
| Aplasia hypoplasia of the ribs 0.3013365511394182 0.4020345631874107 0.6876585896801675 1.0 1.0 23 Q14739,Q9Y619,Q9UHX1 3 |
| Vegetative state 0.4886045386942032 0.4005274048666787 0.6887681028405832 1.0 1.0 5 O43681,P07602 2 |
| Striae distensae 0.3716265840805577 0.4004113995520032 0.6888535293768849 1.0 1.0 10 O00170,Q15334 2 |
| Hyperpigmentation of the skin 0.240704301693285 0.3970896859904245 0.6913013254208789 1.0 1.0 95 P36551,P28482,Q06124,O75844,P16615,Q9NX24,Q15555,Q06136,Q6PGP7,Q14739,P31040,Q8N806,O00170,P04062,Q8WWQ0,Q9H1A4,P53701,O43684,P51648,Q9NXH9 20 |
| Decreased number of large peripheral myelinated nerve fibers 0.5884384302730334 0.3970408657794798 0.6913373255532864 1.0 1.0 4 O15269 1 |
| Muscle hypertrophy of the lower extremities 0.381613228526903 0.3950878765789884 0.6927780356899351 1.0 1.0 9 Q9NR77,Q14331 2 |
| Decreased testicular size 0.2977019709368012 0.3949751133638791 0.6928612545399289 1.0 1.0 25 Q9UPP1,Q8IWS0,Q06787,Q8WWQ0,P27635,O43175 6 |
| Allergy 0.4058694973462288 0.3941676439503606 0.6934572723291903 1.0 1.0 7 P00813,Q9Y5S9,Q9H0F7,O14646,Q6P1M0,P42345 6 |
| Shortening of all distal phalanges of the fingers 0.3323654234843644 0.3932465301523214 0.6941374061472854 1.0 1.0 14 Q8IWS0 1 |
| Abnormal pulmonary valve physiology 0.2837520216652301 0.3928020028662897 0.6944657252607525 1.0 1.0 34 P60953,Q8NC56,Q6PGP7,Q86TI2,Q9Y4P3,Q06124,P55263,O75306,P15924 9 |
| Impaired proprioception 0.2779683882316916 0.3917580740323855 0.695236975892247 1.0 1.0 39 Q9Y619,O00400 2 |
| Anisocytosis 0.4051201284270339 0.3912607311978046 0.6956045218730873 1.0 1.0 7 P62263 1 |
| Intellectual disability progressive 0.3318897919710451 0.390778861877086 0.6959607008529607 1.0 1.0 14 Q15067,Q9H9P8 2 |
| Abnormality of alkaline phosphatase level 0.3032138171014722 0.3907031760906605 0.6960166509268912 1.0 1.0 22 O96017,Q8N511,O75845,P04637,P22626,Q9Y2B2,Q96A33,Q13501,Q14739 9 |
| Abnormal visual fixation 0.585460036601761 0.3884854695082586 0.6976568050193908 1.0 1.0 4 Q13510 1 |
| Neuronal loss in basal ganglia 0.4849312459657298 0.388390379748526 0.6977271624162127 1.0 1.0 5 P42858,O75306 2 |
| Inferior vermis hypoplasia 0.5975657672738655 0.3880266446473979 0.6979963158429834 1.0 1.0 3 P40925 1 |
| Increased serum lactate 0.2474960705623305 0.3873783846405257 0.6984761036193652 1.0 1.0 108 Q5JRX3,Q9Y584,P03886,O95298,Q9P0J0,Q8NI60,Q86Y39,Q9UBX3,Q6P4A7,Q70HW3,P31040,O14949,P35610,P12235,P00403,O75306,Q9BW92,P14854,P20674,P13073 20 |
| Abnormality of pulmonary circulation 0.2894504173162817 0.3868651305572693 0.6988560567945672 1.0 1.0 29 P14854,P04062,O75844,P20674,P00403,P03886,Q96AX1 7 |
| Intestinal malrotation 0.2884970329925706 0.3867335452350849 0.698953479301565 1.0 1.0 30 Q00839,Q15392,P21964,Q13363,Q8NCH0,Q14739,Q92766 7 |
| J shaped sella turcica 0.584838700734563 0.3867105141225488 0.6989705314755834 1.0 1.0 4 O75147,Q96AX1 2 |
| Abnormality of the larynx 0.2640533592299288 0.385787414941304 0.6996541165860066 1.0 1.0 48 Q9H0U9,P27635,O96017,Q13501,Q9UHX1,P04637,P35637,Q13510,P21964,Q13148,Q69YQ0,P09651,P16435,Q14739,Q92766,P52701,P07602,Q9NZJ7 18 |
| Angiofibromas 0.5835932626325652 0.3831630037595098 0.701598907298945 1.0 1.0 4 P21912,P49815,P52701 3 |
| Adenoma sebaceum 0.5835932626325652 0.3831630037595098 0.701598907298945 1.0 1.0 4 P21912,P49815,P52701 3 |
| Abnormality of krebs cycle metabolism 0.5835559642256694 0.3830569756026715 0.7016775194832676 1.0 1.0 4 P03886 1 |
| Proximal muscle weakness in lower limbs 0.3112651168008614 0.3824999232860732 0.7020905857890765 1.0 1.0 19 P36551,Q16637,P50402,Q00796,P12235 5 |
| Triangular mouth 0.4020615565852869 0.3794746908385895 0.7043353951220954 1.0 1.0 7 Q6DKJ4,Q10713 2 |
| Dental malocclusion 0.2936638669906588 0.3779865305401984 0.705440600067361 1.0 1.0 26 P60953,P61586,Q9Y4P3,Q13535,Q8NFG4,Q8TC12,Q06210,Q06124,O75147 9 |
| Abnormal atrioventricular valve physiology 0.256105284628271 0.3773490163378171 0.7059142500967259 1.0 1.0 51 P14854,Q15233,Q9Y4P3,O00170,Q13642,P40939,P04062,P09493,O75844,P53701,O75306,Q96AX1 12 |
| Bilateral cryptorchidism 0.3664289110065554 0.3772556700040365 0.705983612620144 1.0 1.0 10 O43924,P27635 2 |
| Hypogonadotropic hypogonadism 0.2897505511175775 0.3750363322349883 0.707633446185326 1.0 1.0 28 O00170,P03886,P00403,Q9Y4P3 4 |
| Abnormal pyramidal sign 0.2681920299871866 0.3746023991193306 0.7079561885179351 1.0 1.0 133 Q9NR77,P42858,P49589,Q9BYI3,P04066,Q9UHD1,Q9NZJ7,Q9P0J0,Q9UBB4,P01889,Q8NI60,P40939,O00400,P26639,P35637,Q13501,Q6DKK2,P07814,Q9Y619,Q15067,P31040,P49902,Q8N2K0,Q9H9P8,Q16658,Q9Y3Z3,O60488,P07602,O75027,O75306,Q96C36,P51648,O43681,P26358,O15121,P13639,O75787,Q13148,P52701 39 |
| Dicarboxylic aciduria 0.2970222363618181 0.3738572079799898 0.7085105546756179 1.0 1.0 23 P40939,Q96EY8,O43772,Q9H9P8 4 |
| Abnormal speech prosody 0.4001681566423016 0.3722429024593856 0.7097120059579771 1.0 1.0 7 P03886 1 |
| Lipodystrophy 0.2767791118118533 0.3721140574472424 0.7098079303657319 1.0 1.0 37 P50402,Q9Y3Z3,P09493,P04066,O75844,P42166,P31040,P15924 8 |
| Wide nose 0.276481479660201 0.3698062228087121 0.711526878307956 1.0 1.0 37 O43684,Q6PGP7,O00170,Q13642,P04066,P53701,P43034,Q96AX1 8 |
| Exercise induced myoglobinuria 0.4783585420347456 0.3670408036312983 0.713588581954977 1.0 1.0 5 P08237,P00558 2 |
| Abnormal circulating estrogen level 0.3385506044144 0.3667551681234002 0.7138016513963694 1.0 1.0 12 P16435 1 |
| Perimembranous ventricular septal defect 0.398675501132166 0.3665770556755101 0.7139345254491463 1.0 1.0 7 Q9UHX1 1 |
| Retinal atrophy 0.2859487705611827 0.3623882032376835 0.7170619537416014 1.0 1.0 29 Q8N806,P51648,Q9NXH9,P42858,P04062,Q10713,P04439,Q8TC12,Q9UNE7,Q96HR9 10 |
| Ovarian cyst 0.3261319479727619 0.3613098916968784 0.7178677999753202 1.0 1.0 14 P20585,P16435 2 |
| Abnormal gastrointestinal motility 0.2856707495978592 0.3604653550850817 0.7184991603218396 1.0 1.0 29 Q8N806,Q01844,P36551,P11802,P00403,P03886 6 |
| Decreased absent ankle reflexes 0.3371206491052272 0.3599224342606709 0.7189051396789248 1.0 1.0 12 Q13501,P12235 2 |
| Vertebral segmentation defect 0.2853328109210811 0.35813225608277 0.7202443409493156 1.0 1.0 29 Q9Y619,Q9UHX1 2 |
| Abnormal heart valve morphology 0.2490750360101192 0.3569723410952768 0.7211125120103095 1.0 1.0 82 P28482,P55795,P63000,O75844,Q92766,P06753,P25490,Q6PGP7,P61254,Q9Y4P3,Q06787,P21964,Q9UHX1,P04062,Q9Y2B2,Q13363,P53701,Q15233,Q8NCH0 19 |
| Bilateral talipes equinovarus 0.5740323286225628 0.3563969864241606 0.7215432858983006 1.0 1.0 4 Q15392 1 |
| Overriding aorta 0.3958789647368159 0.3560471581451201 0.7218052490792828 1.0 1.0 7 P53701 1 |
| Respiratory failure requiring assisted ventilation 0.57389641971259 0.3560225840496997 0.7218236522153594 1.0 1.0 4 P60891 1 |
| Abnormal cry 0.3357451996877367 0.3533905372380578 0.7237956789669839 1.0 1.0 12 Q06210,Q13510,P06753 3 |
| Hyporeflexia of lower limbs 0.3501744930846255 0.3527453667246526 0.7242793450640495 1.0 1.0 11 Q9NR77 1 |
| Scarring 0.2799044057062072 0.3522522408150417 0.724649101856325 1.0 1.0 33 P61586,P36551,Q8NCH0,Q15555,Q9NWM8 5 |
| Abnormal circulating carboxylic acid concentration 0.2421758681402226 0.3509104685252283 0.7256555175508566 1.0 1.0 90 Q9P0J0,P11182,Q6PGP7,P14854,Q9H9P8,O75845,Q14739,P00558,P40855,P55263,P23786,P03886,O95298,Q9Y619,Q96EY8,O43175 16 |
| Iris coloboma 0.279693866175899 0.3507315037169013 0.7257897885512974 1.0 1.0 33 Q96EK5,Q10713,Q9UHX1 3 |
| Pleural effusion 0.3351674842717042 0.3506589643625858 0.7258442146778623 1.0 1.0 12 Q13043,P14174,P01889,Q06124,Q14739 5 |
| Proximal tubulopathy 0.2908933149178681 0.3499718468806069 0.7263598261254303 1.0 1.0 25 O43676,Q86Y39,P00403,P03886,O75306 5 |
| Abnormality of the parathyroid gland 0.2932029703398275 0.3494236161031676 0.726771306246162 1.0 1.0 23 P40939,P21964,P00403,P03886,P25490 5 |
| Hoarse voice 0.2906441579042091 0.3483560927191296 0.7275727727590946 1.0 1.0 25 O00170,Q13510,P06753,Q9Y3Z3 4 |
| Paraplegia 0.2506220852283306 0.3459002448835934 0.7294176846037932 1.0 1.0 53 Q9P0J0,O00400 2 |
| Bilateral external ear deformity 0.5825524645861297 0.3458797276458289 0.729433104430123 1.0 1.0 3 P15924 1 |
| Periorbital edema 0.287119080256871 0.345141761043715 0.7299877994001656 1.0 1.0 27 O00170,Q14331 2 |
| Abnormality of the clitoris 0.2912530474837791 0.3440914039071468 0.7307775473374127 1.0 1.0 24 P16435,P40855,Q9Y619,P53701 4 |
| Distal upper limb muscle weakness 0.3784860529260487 0.339810555399642 0.7339991983861132 1.0 1.0 8 Q13501 1 |
| Upper limb amyotrophy 0.3112812591946593 0.3363872619644895 0.7365788538768263 1.0 1.0 17 Q9NR77,Q96JI7,Q9Y6X9,P07196,Q13501,P43243,P04792 7 |
| Skin tags 0.3005693054108357 0.3358919470320796 0.7369523499566699 1.0 1.0 20 Q00839,Q9UHX1,Q96MF7 3 |
| Premature birth 0.2653927100318043 0.3357787089821501 0.7370377467202187 1.0 1.0 44 O43676,P40855,O75844,P27635,P06753 5 |
| Truncal titubation 0.578448029971391 0.3347545725514974 0.7378102310922166 1.0 1.0 3 Q9BYI3 1 |
| Abnormal rectum morphology 0.2817186684194937 0.3334711469048764 0.7387786656920827 1.0 1.0 29 Q9Y4P3,Q16658,P20585,P53701,P31040 5 |
| Developmental glaucoma 0.2815689083583473 0.3324609462863668 0.7395412245054209 1.0 1.0 29 P61254 1 |
| Broad metacarpals 0.5305486284289348 0.3319184573123854 0.7399508328304125 1.0 1.0 2 O43909 1 |
| Knee flexion contracture 0.2813153845504892 0.3307529701094263 0.7408310876188875 1.0 1.0 29 O60231,Q06210,P23786,P27635,P06753,Q86XL3 6 |
| Polyphagia 0.3660813754130919 0.3305595271728276 0.7409772216813253 1.0 1.0 9 P25490 1 |
| Rhizomelia 0.3451639159366924 0.3304684183338813 0.741046051958832 1.0 1.0 11 Q15392 1 |
| Agammaglobulinemia 0.5296134663341716 0.3291381166718418 0.7420512948691242 1.0 1.0 2 Q9NRZ9 1 |
| Abnormality of nail color 0.3884369487120228 0.3285843302528093 0.7424698936388605 1.0 1.0 7 Q14574,P16615 2 |
| Leukonychia 0.3884369487120228 0.3285843302528093 0.7424698936388605 1.0 1.0 7 Q14574,P16615 2 |
| Breech presentation 0.3654011340390914 0.327825196513642 0.7430438351010589 1.0 1.0 9 Q969X5,Q9Y619,P06753 3 |
| Recurrent aspiration pneumonia 0.4006387447064483 0.3273835301186902 0.7433778217988518 1.0 1.0 6 Q13510,P08559,P04062 3 |
| Agenesis of corpus callosum 0.2442908125867929 0.327241164004698 0.7434854888889615 1.0 1.0 85 P61978,P40925,Q13409,Q69YQ0,P03886,P08559,P25490,Q86XL3,Q00839,O60231,Q10713,P23786,O43175,O60508,Q9UHX1,Q14004,Q13363,P53701,P35606,P00403,Q9HC21,Q9H2M9,P29372,Q96C36,Q15392,O94979 26 |
| Megalencephaly 0.5756216867677714 0.3271962788691182 0.7435194351693064 1.0 1.0 3 P52788 1 |
| Narrow mouth 0.2503517656874865 0.3215172151020203 0.7478184684744398 1.0 1.0 71 Q8N806,P27635,Q15392,Q6PGP7,P04062,P21964,O75844,Q14004,Q8NCH0,P16435,Q15555,Q92766,Q9Y619 13 |
| Expressive language delay 0.3427489162799372 0.3199096870882159 0.7490367942435108 1.0 1.0 11 P31040,Q8NFG4,Q9UHX1,P62873 4 |
| Orthostatic hypotension due to autonomic dysfunction 0.35294077032809 0.3193361191033751 0.749471646228264 1.0 1.0 10 O43681,P04062 2 |
| Erythrocyte inclusion bodies 0.5597587431805902 0.3180444045590558 0.7504512542975812 1.0 1.0 4 O14936,P08865 2 |
| Cytochrome c oxidase negative muscle fibers 0.3854838754111893 0.3179197655113436 0.7505457991438251 1.0 1.0 7 P12235,P14854 2 |
| Disproportionate tall stature 0.2773898274440727 0.3165323148728673 0.7515985013469046 1.0 1.0 31 Q8N806,Q15334,Q8NCH0,P16435,Q9NWM8 5 |
| Incomplete penetrance 0.2791599841983219 0.3163430353029015 0.7517421495638974 1.0 1.0 29 Q9UBB4,P36551,O14979,P62273,P03886 5 |
| Functional motor deficit 0.277965665699548 0.3146833584568224 0.753002080828644 1.0 1.0 151 Q9H2D1,Q9NR77,P27635,P03886,P06753,Q8NI60,P40939,Q06210,Q13510,Q13501,P46976,P23786,Q15067,P31040,Q9Y285,O00170,P04062,Q9Y3Z3,Q00796,P53701,P07602,P00403,Q9NWM8,O43681,P00558 25 |
| Abnormal circulating long chain fatty acid concentration 0.3843533675895628 0.3138731729301035 0.7536173663825467 1.0 1.0 7 P40855 1 |
| Abnormality of the antihelix 0.3410489625587062 0.3125487902433655 0.7546234895288535 1.0 1.0 11 P16435 1 |
| Abnormality of the scrotum 0.2487821192100298 0.3103733450011361 0.7562770615737386 1.0 1.0 51 Q8N806,Q9H0U9,Q8TCJ2,Q8IWS0,P16435,Q15555,P46977,Q9Y619,Q96EK5 9 |
| Abnormal csf metabolite level 0.2482468872532152 0.309381827119848 0.757031092613184 1.0 1.0 57 Q9P0J0,Q9Y6M9,P14854,O43676,Q8NI60,Q9Y3Z3,P13073,Q86Y39,O95299,O75306,O75380,P00403,P03886,P08559,P31040,Q9HC21,P51970 17 |
| Glioma 0.3093069353468379 0.307844246862257 0.7582008512969274 1.0 1.0 16 O96017,P48735,Q16658,P20585,P04637 5 |
| Fragile skin 0.3698197269967688 0.3067655903385073 0.7590218011548748 1.0 1.0 8 Q8NCH0,P36551 2 |
| Abnormality of the musculature of the thigh 0.3600488071221024 0.3065966824154189 0.7591503791542513 1.0 1.0 9 O14979 1 |
| Overlapping fingers 0.3945068664169772 0.3065576718530542 0.7591800761623659 1.0 1.0 6 P78527,P21333,Q8TD19,Q8TD16,P42356 5 |
| Alacrima 0.4586583463338483 0.3060637245443175 0.7595561270092233 1.0 1.0 5 Q7Z392,Q9NRG9,O95163,P55011 4 |
| Short ribs 0.3496802103099822 0.3058385934176483 0.7597275421961218 1.0 1.0 10 Q9Y619 1 |
| Protruding tongue 0.3146631503332736 0.3049840533600184 0.7603782976738755 1.0 1.0 14 Q10713,O15111 2 |
| Narrow palpebral fissure 0.3110988877436578 0.3024842388508323 0.7622829466517917 1.0 1.0 15 P27635,Q8IWS0 2 |
| Ectopic calcification 0.2475430449240247 0.3001172816128955 0.7640876976398037 1.0 1.0 58 O75845,Q14739,P04062,Q9Y3Z3,P38435,P40855,O75844,P00403,P03886,P23786,O43175 11 |
| Abnormal midbrain morphology 0.3377914308506896 0.2986123616789608 0.7652358323219617 1.0 1.0 11 Q10713,P04062 2 |
| Chronic fatigue 0.3797145078497839 0.2974821108992466 0.766098463594493 1.0 1.0 7 P04637,P07602 2 |
| Biliary tract neoplasm 0.4552457733953954 0.2959881364498103 0.7672391414321957 1.0 1.0 5 O43681,P07602 2 |
| Neoplasm of the gallbladder 0.4552457733953954 0.2959881364498103 0.7672391414321957 1.0 1.0 5 O43681,P07602 2 |
| Distal upper limb amyotrophy 0.312747115470683 0.2959027579506985 0.7673043447983332 1.0 1.0 14 Q9NR77 1 |
| Stroke 0.2703691320665469 0.2955281972827664 0.7675904153907958 1.0 1.0 34 Q63HN8,Q9Y4P3,P04637,O75844,P00403,P03886,P04150,Q96AA3 8 |
| Cerebellar cortical atrophy 0.5631583219093977 0.2948919778148832 0.7680764003684117 1.0 1.0 3 O75845 1 |
| Global brain atrophy 0.2843388998328941 0.2947098618844925 0.7682155289175059 1.0 1.0 23 Q96C36,Q9UHX1,Q9H9P8,P35637,P07602,Q13501,O75306,Q9H2M9,Q9NZJ7 9 |
| Nonspherocytic hemolytic anemia 0.5629765039222536 0.2944333489219801 0.7684267869163033 1.0 1.0 3 P04075 1 |
| Steppage gait 0.29564952570405 0.2931353680798608 0.7694186837426558 1.0 1.0 19 Q9NR77,Q96BR5,Q13642,O15269,Q13501 5 |
| Abnormality of earlobe 0.2755280761003055 0.2925227091293144 0.7698869994374267 1.0 1.0 29 Q15392,Q13535,Q8IWS0,P21964,P53701,P16435 6 |
| Profound global developmental delay 0.311779933066131 0.291356105831964 0.7707789814146229 1.0 1.0 14 P08243 1 |
| Abnormal erythrocyte sedimentation rate 0.3653655974517621 0.2902776463348123 0.7716038386188862 1.0 1.0 8 O15143,P14174 2 |
| Abnormality of the fetal cardiovascular system 0.3895274926348773 0.2900618479598663 0.7717689225349669 1.0 1.0 6 P16435 1 |
| Lower limb spasticity 0.2421086486392558 0.2892448534916696 0.772394009893766 1.0 1.0 83 P40818,P56589,Q5XKP0,P42356,P08559,Q9NZJ7,Q9P0J0,Q9UBB4,O00400,P35637,P54136,Q6DKK2,Q9Y619,P31040,O95299,Q8N183,Q8WXI9,P49902,P04062,Q9Y3Z3,P07602,O75306,Q9H2M9,Q96CU9,Q9UNE7,O75787 26 |
| Dyscalculia 0.3452436621227943 0.2878079193335466 0.7734937750005584 1.0 1.0 10 Q06787,P22626,P35637,P09651,Q13501 5 |
| Calvarial hyperostosis 0.5476066334182881 0.286997026896198 0.7741145967154284 1.0 1.0 4 P22626 1 |
| Micropenis 0.2472858460073033 0.2869896794110747 0.7741202226335115 1.0 1.0 66 Q8N806,O95470,Q8TCJ2,Q8IWS0,Q10713,Q9Y3Z3,Q8WWQ0,P53701,P16435,Q9Y619 10 |
| Supernumerary bones of the axial skeleton 0.3885343178135059 0.2868173774887328 0.7742521564134162 1.0 1.0 6 Q9UHX1 1 |
| Abnormality of the thymus 0.3050601320805005 0.2867053694554933 0.774337925890503 1.0 1.0 16 P21964,Q7L590,Q6PGP7 3 |
| Aplasia hypoplasia of the thymus 0.3050601320805005 0.2867053694554933 0.774337925890503 1.0 1.0 16 P21964,Q7L590,Q6PGP7 3 |
| Restrictive ventilatory defect 0.334209174603593 0.2835493466492479 0.776755759871484 1.0 1.0 11 Q9Y285 1 |
| Talipes equinovarus 0.2436568336955363 0.2821747800737515 0.7778094954718311 1.0 1.0 79 P40818,P28482,Q9NR77,P61978,P16435,Q92766,P06753,O60231,O75845,O43318,Q8NI60,P52788,P21964,Q8NBU5,Q969X5,Q9Y619,P49902,Q9Y487,Q13363,Q9HC21,Q9H2M9,Q9NWM8,Q15392,P41091,O94979,Q96A33,Q8NCH0,Q9Y3E5,P53992 29 |
| Abnormality of subcutaneous fat tissue 0.3035179686131571 0.2791613887022203 0.7801209734978365 1.0 1.0 16 O75844 1 |
| Aplasia hypoplasia of the ear 0.2448926818820604 0.2790451829128865 0.7802101503936141 1.0 1.0 57 O15111,Q6PGP7,P61254,Q02127,P04062,P62273,Q13363,Q15555,Q9Y619 9 |
| Adrenal hyperplasia 0.3860178080159125 0.2786658520773296 0.7805012708681551 1.0 1.0 6 P16435 1 |
| Severe short stature 0.275126997127862 0.2785238228342702 0.7806102802639305 1.0 1.0 28 Q15392,Q9Y619,Q96MF7 3 |
| X linked recessive inheritance 0.2443776033704997 0.277633337330115 0.7812938383205841 1.0 1.0 56 O14654,P50402,Q9UNF1,P27635,Q9UPP1,Q96D09,P52788,P60891,O14936,O75027,P29372,P41091,P46020,Q15233,Q13642,Q8IWS0,P00558,O75787,P51571,P78318,O00571 21 |
| Menorrhagia 0.5549740444782472 0.2746166610164914 0.7836107646665855 1.0 1.0 3 P49257 1 |
| Limited extraocular movements 0.384606137205258 0.2741371002222877 0.7839792636581877 1.0 1.0 6 O75306 1 |
| Abnormal eyelash morphology 0.2428434051864725 0.2740443191353293 0.7840505631074495 1.0 1.0 79 Q9NZN8,Q4J6C6,Q9UHX1,P62266,P26640,Q14331,Q14574,O75844,Q9H1A4,P20674,P53701,Q9NX24,Q9Y619,P46778,P15924,O43175,Q96AX1 17 |
| Abnormal soft palate morphology 0.2440857859229242 0.2738429646555246 0.7842053041493324 1.0 1.0 76 Q6PGP7,P61254,P62273,Q9Y619,Q9NWM8 5 |
| Proportionate short stature 0.2617483510057801 0.2731997641729983 0.7846996612495987 1.0 1.0 40 Q15392,Q13535,P40939,P53701,Q14739,Q9Y619,Q96MF7 7 |
| Adult onset 0.2457148996613693 0.2725086450288768 0.7852309449488477 1.0 1.0 67 Q9NQZ5,P31930,Q14566,P36551,Q16637,Q13642,O14979,Q06787,P04062,P26358,P38435,P62263,Q9NWW5,P12235,O15118,P31040,P07602 17 |
| Disproportionate short stature 0.2769791039221249 0.2710725679789402 0.7863352195236726 1.0 1.0 26 Q15392,Q9UHX1,Q96MF7 3 |
| Stridor 0.3718519167737801 0.2705093830761978 0.786768399268599 1.0 1.0 7 Q9H0U9,O43318,Q96AX1 3 |
| Wide nasal ridge 0.4462661067098399 0.270204068823543 0.7870032626165364 1.0 1.0 5 P27635 1 |
| Multiple joint contractures 0.2888123848158913 0.2695049358011962 0.78754114446858 1.0 1.0 20 P51530,O75844,Q9Y3Z3 3 |
| High myopia 0.3502484699031309 0.2690988540693839 0.7878536122407802 1.0 1.0 9 P27635,P30533,Q9Y487 3 |
| Abnormal labia majora morphology 0.3306662765440812 0.26893042168894 0.7879832259520048 1.0 1.0 11 Q9Y619 1 |
| Hypoplastic labia majora 0.3306662765440812 0.26893042168894 0.7879832259520048 1.0 1.0 11 Q9Y619 1 |
| Simplified gyral pattern 0.2710985540870832 0.2688245561695275 0.7880646956134516 1.0 1.0 30 P08243,Q86XL3 2 |
| Lymphedema 0.3064857067577002 0.266924536839993 0.7895272641782765 1.0 1.0 14 P60953,Q14739,P26358,P28482 4 |
| Abnormal facial expression 0.269786250464758 0.266137731363598 0.790133137090032 1.0 1.0 31 Q8WXI9,P12235,Q9NR77,Q06787,P04062,O75787,Q969X5,Q14331,P06753 9 |
| Recurrent pancreatitis 0.5513713396325387 0.2659340939943329 0.7902899670095123 1.0 1.0 3 P03886 1 |
| Papule 0.2905227071086214 0.2655297325988309 0.7906014083282351 1.0 1.0 19 O75844,P38435 2 |
| Uveitis 0.3490842314242383 0.2647672538200226 0.7911887645223799 1.0 1.0 9 Q13043,P29401,P14174,P01889,Q9UNE7,P49327 6 |
| Recurrent infection of the gastrointestinal tract 0.3699917598091982 0.2642817380241085 0.7915628311223339 1.0 1.0 7 P78536 1 |
| Pseudobulbar signs 0.3294621211478248 0.2640262782727982 0.7917596698678637 1.0 1.0 11 Q15233,P26358,P54136,O94979,P42356 5 |
| Metatarsus adductus 0.3106002639323845 0.2639099116696851 0.7918493379295402 1.0 1.0 13 P28482,Q15392,Q13363 3 |
| Nasogastric tube feeding 0.2757905834836598 0.2638932442814483 0.7918621814653628 1.0 1.0 26 P49591,Q4G176,Q96N66,Q9NUQ7,Q96F86,Q15233,Q96C86,O60524,Q2M389,Q9H1A4,Q14139 11 |
| Sclerosis of skull base 0.5380489775261855 0.2636688492278722 0.7920351010323385 1.0 1.0 4 Q14739 1 |
| Abnormality of extrapyramidal motor function 0.2430216071145745 0.2635206908460679 0.792149277977318 1.0 1.0 76 P11802,P23025,Q9NWW5,P06753,Q9NZJ7,Q9UBB4,Q9Y4P3,Q06787,P35637,Q13501,Q6DKK2,Q9H9P8,O14949,Q9Y3Z3,P04062,P35610,P07602,P12235,P31930,P08243,O75787 21 |
| Hemiparesis 0.3001648364999556 0.2630087387983603 0.7925438435903736 1.0 1.0 16 P03886 1 |
| Increased csf lactate 0.2408646143217943 0.2627645504462408 0.7927320602630634 1.0 1.0 52 Q9P0J0,Q9Y6M9,P14854,O43676,Q8NI60,P13073,Q86Y39,O95299,O75306,O75380,P00403,P03886,P08559,P31040,Q9HC21,P51970 16 |
| Hammertoe 0.3000006532121065 0.2622267771619456 0.7931466103134335 1.0 1.0 16 Q9NR77,Q96BR5 2 |
| Loss of speech 0.2847937969275839 0.2621114081357498 0.7932355517595548 1.0 1.0 21 Q13501,O43681,Q9Y3Z3,P07602 4 |
| Delayed fine motor development 0.3690920434681812 0.2612911343161816 0.7938680029538023 1.0 1.0 7 P16435 1 |
| Limb girdle muscular dystrophy 0.3383443972291038 0.2605668167743639 0.7944265822291412 1.0 1.0 10 Q13642,O14979,P50402 3 |
| Abnormality of the calf musculature 0.2996410952508894 0.2605172460055485 0.7944648140774571 1.0 1.0 16 O60231,Q14331,Q9NR77 3 |
| Epispadias 0.5362869422527189 0.2594760768462871 0.7952679379992491 1.0 1.0 4 Q9Y619 1 |
| Hereditary nonpolyposis colorectal carcinoma 0.3379583062310189 0.2590719697502219 0.7955797115307064 1.0 1.0 10 O96017,Q8NFG4,P04637,P63167 4 |
| Peripheral axonal neuropathy 0.2430389556247444 0.2572963822728272 0.7969499849988795 1.0 1.0 59 O60231,P00403,Q96BR5,P22626,O15269,P09651,P07602,P12235,P03886,Q15067,Q9HC21,Q9NZJ7 12 |
| Abnormal morphology of the abdominal musculature 0.3269610277528075 0.2539467048524598 0.7995367319229589 1.0 1.0 11 Q06124,P09651,Q8NCH0 3 |
| Abnormal megakaryocyte morphology 0.439019388641028 0.250190488943481 0.802440040140556 1.0 1.0 5 P62263 1 |
| Abnormal shape of the frontal region 0.233239168993835 0.2500168289265463 0.8025743342428595 1.0 1.0 105 P04066,P16435,Q00839,Q6PGP7,Q06787,Q14739,Q9Y619,Q15067,Q4J6C6,Q8WXI9,O00170,P07237,Q9Y2B2,Q13363,P43034,P29372,O75147,Q15392,Q15233,P55263,P20674,P13073,O43924 23 |
| Large forehead 0.37686672520955 0.2498827042187685 0.8026780590416069 1.0 1.0 6 Q06787,Q96AX1 2 |
| Osteomyelitis 0.3125712738863809 0.2498286509401694 0.8027198619082982 1.0 1.0 12 Q13126 1 |
| Tube feeding 0.2430830379606539 0.2488050856039758 0.8035115570496072 1.0 1.0 68 P61978,P08559,P06753,P25490,Q9NZJ7,Q4G176,Q96N66,P35637,P67870,P49591,Q9UHX1,Q9Y2B2,Q01105,Q9H1A4,P07602,Q9NUQ7,Q96F86,Q15233,O15121 19 |
| Focal onset seizure 0.2343999912843073 0.2465548243285553 0.8052527702313308 1.0 1.0 88 Q9ULM3,P27635,P03886,Q9NZJ7,Q4G176,Q96N66,Q9UBB4,Q14353,P52788,Q9UBX3,P67870,P54136,P31040,O43776,O43175,P49591,O14936,O60508,Q01105,P07602,P00403,P43034,Q9NUQ7,Q96C36,Q96F86,O94979 26 |
| Glycosuria 0.3439972280026222 0.2461591472855356 0.8055590384009856 1.0 1.0 9 Q08426,Q96MF7 2 |
| Micromelia 0.2740373497018661 0.2461526333885137 0.8055640806397573 1.0 1.0 25 Q9UHX1,Q15392,O43175 3 |
| Cerebral white matter hypoplasia 0.4368174726989015 0.2442538895167909 0.8070341928536313 1.0 1.0 5 O60341,Q9Y617,Q9Y320,O43776 4 |
| Clonus 0.2583518688783505 0.2441541181850006 0.8071114602228422 1.0 1.0 39 P40818,Q6PJG6,O00400,P42858,P49589,P35637,Q53FT3,P60891,Q9UNE7,O75787,P07602,O75027,Q9Y619,Q9NZJ7 14 |
| Aplasia hypoplasia involving the musculature of the upper limbs 0.541004053632673 0.2417957042352402 0.8089384676881051 1.0 1.0 3 Q9Y5S9,O43318 2 |
| Insulin resistance 0.2831216242501797 0.2391505244054758 0.8109888653687316 1.0 1.0 20 O75844 1 |
| Recurrent paroxysmal headache 0.33272001452855 0.2391102992905661 0.8110200557114893 1.0 1.0 10 P00403,P03886 2 |
| Clubbing of fingers 0.5271653477142699 0.2383211766582255 0.811631997864874 1.0 1.0 4 Q86TI2 1 |
| Facial edema 0.2684815478844157 0.2377781184317435 0.812053190950272 1.0 1.0 28 O00170,Q14331,Q9Y4P3 3 |
| Generalized hyperreflexia 0.4342842001108202 0.2375086529926029 0.8122622071159205 1.0 1.0 5 P13639,P26639 2 |
| Athetosis 0.2997948033109012 0.237193175867414 0.8125069301483379 1.0 1.0 14 O14949 1 |
| Hand muscle weakness 0.3092502281647901 0.2360777008681656 0.8133723770601304 1.0 1.0 12 Q9NR77 1 |
| Abnormal choroid plexus morphology 0.4336516879212732 0.2358387359679831 0.8135578088648061 1.0 1.0 5 P04637,O43175 2 |
| Narrow iliac wing 0.5255671264484667 0.2347107167842203 0.8144332692807617 1.0 1.0 4 Q15436,Q9NR45 2 |
| Type 1 muscle fiber atrophy 0.349085064373399 0.2330866535602089 0.8156941184250652 1.0 1.0 8 Q13642,P06753,P50402 3 |
| Cerebral visual impairment 0.2409705711455143 0.2303049230103548 0.817854835416443 1.0 1.0 65 P49591,Q96N66,P00403,Q96C36,Q9NUQ7,Q96F86,P14854,Q9H2M9,P35606,Q01105,Q96A33,P67870,P08243,P12235,P03886,O43175 16 |
| Motor neuron atrophy 0.2787524132235581 0.2295098064587144 0.8184726995804592 1.0 1.0 21 Q16637,P22626,P35637,Q13510,P09651,Q13501 6 |
| Hypoplasia of the radius 0.3025094242699434 0.229248255040391 0.8186759689752794 1.0 1.0 13 P61254,Q13535 2 |
| Recurrent 0.5352276695311486 0.2289018394407282 0.8189452108567845 1.0 1.0 3 P11182 1 |
| Scapular winging 0.2682935643063713 0.2277524908912025 0.8198386627838299 1.0 1.0 27 Q13642,P50402,Q06210,Q06124,Q13501,Q14331,P06753,O75147 8 |
| Megalocornea 0.3198996577104859 0.2262865926292803 0.8209785254979041 1.0 1.0 11 Q96EK5,Q9Y4P3 2 |
| Temporal optic disc pallor 0.4909600997506312 0.2254755294519866 0.8216093599348178 1.0 1.0 2 O00429 1 |
| Morning glory anomaly 0.4909600997506312 0.2254755294519866 0.8216093599348178 1.0 1.0 2 O00429 1 |
| Anomalous trichromacy 0.4909600997506312 0.2254755294519866 0.8216093599348178 1.0 1.0 2 O00429 1 |
| Tritanomaly 0.4909600997506312 0.2254755294519866 0.8216093599348178 1.0 1.0 2 O00429 1 |
| Hypomimic face 0.3289209495884441 0.2250138866775823 0.8219684712555733 1.0 1.0 10 P12235,P04062 2 |
| Exodeviation 0.2722135880950463 0.2248577808294553 0.8220899142380413 1.0 1.0 23 P55795,P40939,Q9UHX1 3 |
| Gonosomal inheritance 0.240032644376276 0.2241290413856118 0.8226568954871327 1.0 1.0 71 O14654,P55795,P50402,Q9UNF1,P27635,P08559,Q9UPP1,Q96D09,Q06787,P52788,P60891,O14936,O60488,P53701,O75027,P29372,P41091,P46020,Q15233,Q13642,Q8IWS0,P00558,O75787,P51571,P78318,O00571 26 |
| Talipes valgus 0.5198786031495702 0.2220963918184831 0.8242388466353594 1.0 1.0 4 P49589,Q15233 2 |
| Neoplasm of the adrenal cortex 0.3662618938452559 0.2182826684597372 0.827208877448544 1.0 1.0 6 P04637,P48735 2 |
| Progressive gait ataxia 0.3176797206617748 0.2178411145812815 0.8275529089382259 1.0 1.0 11 O43681,P13639,P07602 3 |
| Aplasia hypoplasia of the eyebrow 0.2538783514422751 0.2178387533256613 0.8275547487716717 1.0 1.0 40 O75844,P25490,Q96EK5 3 |
| Female infertility 0.4875311720698331 0.217390294436252 0.8279041942721248 1.0 1.0 2 Q86Y56 1 |
| Tics 0.3443285160958293 0.2173408265614028 0.8279427424263852 1.0 1.0 8 Q9UHX1 1 |
| Neoplasm of the respiratory system 0.3044388820681361 0.2166825179604768 0.828455772987617 1.0 1.0 12 O96017,P30154,Q01844,P04637,P52701 5 |
| Mental deterioration 0.2292712281712361 0.2165933725630517 0.8285252510715009 1.0 1.0 104 Q9BQE5,P22626,Q9NWW5,P03886,Q9NQZ5,O95470,Q9UBB4,P27544,Q10713,Q13510,P21964,Q13501,P31040,P04062,P07602,P00403,O75306,P14854,O43681,P26358,O15118 21 |
| Stroke like episode 0.3545810379183046 0.2150659830482828 0.8297158749155538 1.0 1.0 7 P00403,P03886,Q96AA3 3 |
| Increased total bilirubin 0.5165857990246419 0.2149647666477989 0.8297947885204457 1.0 1.0 4 P23786 1 |
| Abnormality of skeletal muscle fiber size 0.2837728460043207 0.2137218073935148 0.8307640044013871 1.0 1.0 18 Q13501,Q13642,P06753,P22626 4 |
| Lumbar scoliosis 0.5159267255716324 0.2135524392008106 0.8308960917236465 1.0 1.0 4 P27635 1 |
| Preaxial hand polydactyly 0.3036135311086665 0.2134193309626956 0.8309999038878526 1.0 1.0 12 Q9UHX1,Q9UPP1 2 |
| Distal amyotrophy 0.2374936398900309 0.2128546212377923 0.831440358228825 1.0 1.0 58 Q9NR77,Q9Y6X9,Q9UHD1,P43243,P06753,P25490,P54577,Q96BR5,P35637,P60891,Q13510,Q13501,P31040,Q8N2K0,P07196,P04792,Q96JI7,O15269,Q9UNE7,Q9Y3E5,P35573 21 |
| Focal white matter lesions 0.3638135212919609 0.2112648356464253 0.8326806207173518 1.0 1.0 6 P12235,P49815 2 |
| Neoplasm of the nervous system 0.2388948104918731 0.2096305862789699 0.8339560056205741 1.0 1.0 50 O96017,P48735,Q9H269,Q01844,Q9H9P8,Q16658,P52701,P04637,P20585,Q06124,O43924,Q15555,P31040,P25490 14 |
| Increased serum pyruvate 0.2558603181904877 0.2095638637811397 0.8340080858469019 1.0 1.0 35 P03886,Q70HW3,Q86Y39,O43676 4 |
| Aqueductal stenosis 0.3629837702871397 0.2089106341862695 0.8345180024478329 1.0 1.0 6 P57740,Q15427,Q9NPF4,Q8WUM0,Q9Y3C4 5 |
| Abnormality of the achilles tendon 0.3021359645555295 0.2076249736276967 0.8355218031342226 1.0 1.0 12 Q8N2K0 1 |
| Achilles tendon contracture 0.3021359645555295 0.2076249736276967 0.8355218031342226 1.0 1.0 12 Q8N2K0 1 |
| Cogwheel rigidity 0.4225123922375817 0.2073791508372088 0.8357137638996677 1.0 1.0 5 P12235 1 |
| Postaxial polydactyly 0.271808578923347 0.2071438316938763 0.8358975316312454 1.0 1.0 22 Q14739,Q10713,O75845 3 |
| Abnormal exteroceptive sensation 0.2356024168508426 0.206968268657517 0.8360346398733352 1.0 1.0 55 O43776,Q9NR77,P61978,P01889,O00170,Q06787,Q16658,Q00796,P52701,O15269,Q8NCH0,P07602,P04637,P31040,P25490,Q9NZJ7 16 |
| Neonatal hypotonia 0.2345566032496102 0.2062859276164872 0.8365675702780953 1.0 1.0 53 P40939,Q9Y584,Q15067,P23786,P27635,P06753 6 |
| Agyria 0.5241313330851947 0.2052724251537176 0.837359286852768 1.0 1.0 3 O00139 1 |
| Poor fine motor coordination 0.3508719758385922 0.2038786665740375 0.8384483165402934 1.0 1.0 7 Q06787,Q8TC12 2 |
| Capillary malformation 0.2961375899238562 0.2032709332932997 0.838923273118588 1.0 1.0 13 Q9UHX1 1 |
| Congenital nonbullous ichthyosiform erythroderma 0.5105735195506296 0.202269076144328 0.8397063739593829 1.0 1.0 4 P26639,P04062 2 |
| Abnormal urinary color 0.3605977377308925 0.202209508951503 0.8397529396141878 1.0 1.0 6 P23786 1 |
| Contractures involving the joints of the feet 0.2668969792777422 0.2005518047762281 0.8410490465039289 1.0 1.0 24 P14923,P49902,Q8N2K0,Q92994,Q13642,Q8IWS0,P50402,Q9Y3E5,P15924 9 |
| Sparse body hair 0.3306304886863042 0.1998405550959618 0.8416052826391887 1.0 1.0 9 Q8WWQ0,P46778,Q14574 3 |
| Urinary bladder sphincter dysfunction 0.3126820509971163 0.1992801258093153 0.8420436246899439 1.0 1.0 11 Q9NR77,Q06787,P22626 3 |
| Severe global developmental delay 0.2356501753751479 0.1984305868020142 0.8427081883999183 1.0 1.0 77 O15121,Q9BT22,P55263,P03886,Q15067,P25490,O43175 7 |
| Dementia 0.2367296348473501 0.1979261110248971 0.8431028746450635 1.0 1.0 62 P22626,Q9NWW5,P03886,Q9NZJ7,Q9NQZ5,Q9UBB4,P27544,Q06787,P35637,Q13510,Q13501,P31040,Q9Y487,P04062,P09651,P07602,P00403,O43681,P26358,Q13148,O15118 21 |
| Pulmonic stenosis 0.259730405273425 0.1962476481287837 0.8444163352631748 1.0 1.0 29 P60953,Q6PGP7,Q9Y4P3,P55263,O75306 5 |
| Recurrent upper and lower respiratory tract infections 0.4778678304239481 0.1956166869114557 0.8449101983480669 1.0 1.0 2 Q93008 1 |
| Abnormality of the endometrium 0.3375219429214017 0.1956077377583095 0.8449172034272661 1.0 1.0 8 P78549,P20585,P21912,P28340,P52701 5 |
| Retinal dystrophy 0.235358361350321 0.1955617296144104 0.8449532171616134 1.0 1.0 58 Q8N2K0,Q10713,P00558,P38435,P40855,P53701,P27635,P03886,Q15067 9 |
| Hypopituitarism 0.2518430404706743 0.1954881385614876 0.845010822607047 1.0 1.0 37 Q4J6C6,Q9Y285,O00170,Q8WWQ0,P25490 5 |
| Stage 5 chronic kidney disease 0.2548885263966744 0.1946253800618542 0.8456862325717114 1.0 1.0 34 O95470 1 |
| Astrocytoma 0.3109740019309649 0.1930827238168568 0.8468941824657625 1.0 1.0 11 O96017,P48735,P49815,P20585,P04637,P52701 6 |
| Non midline cleft lip 0.3568754176114593 0.1919606481680178 0.8477730303296402 1.0 1.0 6 O15111 1 |
| Kinetic tremor 0.2509874184702389 0.1900955269283843 0.8492342751679425 1.0 1.0 37 Q8NC56,Q9UBB4,Q8N2K0,P22307,Q15233,O43681,P26639,Q06787,Q9BYI3,P07602,P54136,O75027,P07814,Q9NZJ7 14 |
| Anemia of inadequate production 0.2358879765775946 0.1867482654047822 0.851858011407344 1.0 1.0 69 P22830,Q9Y285,P61254,P62273,Q9UBX3,P62263,O43175 7 |
| Tissue ischemia 0.2725661374731976 0.1862116289531018 0.8522788048662728 1.0 1.0 20 Q63HN8,O75844,Q9Y4P3 3 |
| Brain imaging abnormality 0.2475438745373496 0.1861541460096998 0.8523238815391114 1.0 1.0 42 P00403,Q969X5,Q9BT22,P35610,P07602,Q13501,P03886,O75306,Q96AX1 9 |
| Fine hair 0.2743027660479507 0.1845912013107129 0.8535496876833479 1.0 1.0 19 Q8WXI9,Q6PGP7,Q92994,P49589,Q9Y2B2,Q01968 6 |
| Neoplasm of the gastrointestinal tract 0.2219973964328805 0.1845591196675799 0.8535748527969353 1.0 1.0 95 Q6PGP7,P61254,P36551,O43681,Q16658,Q10713,P62273,P11802,P20585,P07602,P31040,P25490,P63167 13 |
| Recurrent gastroenteritis 0.501640676404617 0.1841937003956087 0.853861501288304 1.0 1.0 4 P78536 1 |
| Attenuation of retinal blood vessels 0.3258328853364973 0.1841684481840253 0.8538813107770522 1.0 1.0 9 P04439,P38435 2 |
| Progressive peripheral neuropathy 0.5015657959522979 0.1840461967871736 0.8539772140824222 1.0 1.0 4 O43681,P07602 2 |
| Esophageal stricture 0.5134440287121524 0.1839552079924218 0.8540485940227529 1.0 1.0 3 Q9NX24 1 |
| Abnormal larynx physiology 0.2843057444786118 0.1831246889405515 0.854700184350178 1.0 1.0 15 Q9H0U9,P35637,Q13510,P09651,Q13501 5 |
| Deformed sella turcica 0.4122075287171086 0.182691169394345 0.8550403449535711 1.0 1.0 5 Q96AX1,O75147 2 |
| Primary peritoneal carcinoma 0.3533662374300211 0.182530406975202 0.8551664938483605 1.0 1.0 6 P04637 1 |
| Hypocalcemia 0.2864100724164851 0.1818159504450522 0.855727166512728 1.0 1.0 14 Q4J6C6,P40939,P21964 3 |
| Truncal obesity 0.2784227634926908 0.1773398784472776 0.859241428707834 1.0 1.0 17 Q8IWS0 1 |
| Inappropriate crying 0.3412892778008466 0.1762113846611437 0.8601278770693104 1.0 1.0 7 O43175,P07602 2 |
| Heart block 0.265296829493086 0.1740696602079138 0.8618107168038209 1.0 1.0 22 O43772,P46976,P50402 3 |
| Knee clonus 0.5080767254482929 0.1737894888413984 0.8620309053780884 1.0 1.0 3 Q96JI7 1 |
| Dysgraphia 0.2842935467534541 0.1735851033071513 0.8621915401179847 1.0 1.0 14 Q13501,Q9Y4P3 2 |
| Thick eyebrow 0.2359693805175636 0.1732917051923305 0.8624221433548032 1.0 1.0 49 Q8N806,Q9NZN8,Q9UHX1,Q96D09,P62266,Q8IWS0,P04066,Q96EK5 8 |
| Muscle fiber atrophy 0.2649579491204736 0.1724010609755338 0.8631222381301258 1.0 1.0 22 P61978,Q7Z392,Q13642,P50402,P22626,P35637,Q06210,P04075,P23786,P06753 10 |
| Abnormal serum interleukin level 0.4666458852867911 0.1722229762848876 0.8632622352930361 1.0 1.0 2 P49327 1 |
| Abnormal dermoepidermal junction morphology 0.5071651391211887 0.1720990022184463 0.863359697174845 1.0 1.0 3 P15924 1 |
| Abnormal fingertip morphology 0.2547607545194415 0.1714676302232293 0.8638560808166031 1.0 1.0 30 Q8N806,Q86TI2,Q9NXH9,P55795,P62266,O75844,P15924,Q9H2M9 8 |
| Adrenocorticotropic hormone excess 0.4660224438902825 0.1709832001033399 0.8642369754392909 1.0 1.0 2 P33991 1 |
| Recurrent hand flapping 0.4946526303926362 0.1707181533287315 0.8644453880845808 1.0 1.0 4 P55795 1 |
| Abnormality of retinal pigmentation 0.2316652307913198 0.1701298566252497 0.8649080135889817 1.0 1.0 79 O60231,Q9P0J0,Q9UG56,P51648,P40939,Q15555,P40855,P53701,P00403,P03886,P31040,O75306,Q15067 13 |
| Nephrolithiasis 0.2666115937468619 0.1685616888380736 0.8661414171562434 1.0 1.0 21 O00170,Q4J6C6,Q8NCH0 3 |
| Hypermetric saccades 0.4647755610972632 0.1685225694206962 0.8661721897467296 1.0 1.0 2 P18887 1 |
| Abnormal ossification involving the femoral head and neck 0.4931225510797954 0.1678460793714047 0.8667043706012831 1.0 1.0 4 Q14739 1 |
| Abnormal hand morphology 0.2323996242047449 0.1673825128612187 0.8670690837799431 1.0 1.0 113 Q9NZN8,Q9UHX1,P61254,O00170,Q8IWS0,P62273,O75844,P08243,P16435,O43175 10 |
| Neoplasm of the male external genitalia 0.3202991161607453 0.1667422482839989 0.867572861532709 1.0 1.0 9 P04637,Q01844 2 |
| Impaired pain sensation 0.2683922373617767 0.1665541700631694 0.8677208568713577 1.0 1.0 20 P17480,Q9NR77,P61978,Q00796,P60891,O15269,Q13045,P07196 8 |
| Congenital hip dislocation 0.257228291266616 0.1665402581380996 0.8677318040969229 1.0 1.0 27 Q9UHX1,Q9Y487,O43318,Q02127,Q13642,O75147,P57678,Q9Y3E5,P06753,P43034 10 |
| Branchial anomaly 0.3276912498252559 0.1659380385270249 0.868205712038465 1.0 1.0 8 Q9UHX1 1 |
| Axonal degeneration 0.337496097408674 0.165763360829207 0.868343180973963 1.0 1.0 7 Q9BQT8,Q9Y5B0,Q9UHD8,P33897,Q99757,Q6DKK2 6 |
| Neonatal hyperbilirubinemia 0.5036857721433198 0.1657431723167176 0.8683590693111314 1.0 1.0 3 P36551 1 |
| Gastrointestinal obstruction 0.2780501457003199 0.1657327220258237 0.8683672936994764 1.0 1.0 16 P31040,Q01844 2 |
| Scotoma 0.3027231681999344 0.1642241672191217 0.869554676695486 1.0 1.0 11 P03886,P04439 2 |
| Cerebellar vermis atrophy 0.3026934261979249 0.1641234278570356 0.869633979122771 1.0 1.0 11 Q15334,Q10713 2 |
| Lower limb muscle weakness 0.2345978924872905 0.1635895102432336 0.8700543030672498 1.0 1.0 49 Q9NR77,Q13642,P40939,O00400,Q00796,Q13510,Q969X5,P06753 8 |
| Omphalocele 0.2856857778233928 0.1633214006529443 0.8702653848421997 1.0 1.0 13 Q14739,O15111,Q69YQ0,P43034 4 |
| Hemimegalencephaly 0.4619700748129758 0.1630783712640288 0.8704567290462513 1.0 1.0 2 P49815 1 |
| Focal cortical dysplasia type ii 0.4619700748129758 0.1630783712640288 0.8704567290462513 1.0 1.0 2 P49815 1 |
| Long eyelashes 0.2460158114371662 0.1611782080817892 0.8719530441340853 1.0 1.0 38 Q9NZN8,Q4J6C6,Q9UHX1,P62266,P26640,P20674,Q9Y619,Q96AX1 8 |
| Dyschromatopsia 0.4024960998439878 0.1609088031933155 0.8721652287124737 1.0 1.0 5 O60313,O00429,Q9Y6X9,Q9Y4W6 4 |
| Anotia 0.4892036796279815 0.1606192308243393 0.872393307551488 1.0 1.0 4 Q9Y619 1 |
| Molar tooth sign on mri 0.3446837466422824 0.1601818451851912 0.8727378301714923 1.0 1.0 6 Q10713 1 |
| Motor deterioration 0.3438885986003768 0.1582060948403192 0.8742944012515272 1.0 1.0 6 P31040 1 |
| Abnormal optical coherence tomography 0.4993915660675838 0.1581098817237145 0.8743702140685201 1.0 1.0 3 P04439 1 |
| Neoplasm of the pancreas 0.258640763423771 0.1578986781909998 0.8745366396494068 1.0 1.0 24 P11802,Q16658,Q9NX24,Q01844 4 |
| Abnormal astrocyte morphology 0.273629020704159 0.1573129373623635 0.8749982246673569 1.0 1.0 17 O96017,P48735,P20585,Q13501,P04637 5 |
| Difficulty climbing stairs 0.2798975435686028 0.1569664605443462 0.8752712809979601 1.0 1.0 14 Q06210,P40939,P06753 3 |
| Abnormal renal insterstitial morphology 0.3086404194893473 0.1555168449393929 0.876413875157982 1.0 1.0 10 P23786,Q9Y4P3 2 |
| Slow saccadic eye movements 0.2999955689717977 0.1550854469577401 0.8767539550179089 1.0 1.0 11 O60231,Q9UHD1,P04062 3 |
| Abnormality of male internal genitalia 0.2992230761995462 0.152534149444577 0.8787656581928704 1.0 1.0 11 P04637,Q8IWS0 2 |
| Abnormality of the tongue 0.2221450510072339 0.1510073889161934 0.8799698872292192 1.0 1.0 91 Q9H0U9,O15111,O00170,Q16637,Q10713,P40855,P04066,Q13510,Q96A33,O75844,P67870,O43924,Q14331 13 |
| Abnormal thalamic mri signal intensity 0.3405118601747801 0.1499497926997404 0.8808042268930838 1.0 1.0 6 Q96RR1,P35240,Q12824,Q969Y2,Q969G3 5 |
| Cerebellar dysplasia 0.4831385744218012 0.1498018952636972 0.8809209140283984 1.0 1.0 4 P60953,P63000 2 |
| Abnormal circulating glutamine family amino acid concentration 0.3394332350688497 0.1473584135176401 0.8828491283260089 1.0 1.0 6 O95298,P20674 2 |
| Low set nipples 0.4812049935017546 0.1464473464047705 0.883568253149291 1.0 1.0 4 P26639,Q9Y2B2 2 |
| Tubulointerstitial nephritis 0.3952033603719257 0.1455156796088626 0.8843037369732418 1.0 1.0 5 P23786 1 |
| Agenesis of cerebellar vermis 0.4805003936145546 0.1452362620085492 0.8845243365075544 1.0 1.0 4 Q10713 1 |
| Waddling gait 0.249132454756207 0.144594910953078 0.8850307154780046 1.0 1.0 31 Q4J6C6,Q9NUQ7,P50402,P22626,Q06210,Q13510,P06753,P25490 8 |
| Retinopathy 0.249846277984099 0.1427104446022673 0.8865188675562727 1.0 1.0 29 P51648,P40939,O95352,P11802,Q13363,Q15555 6 |
| Abnormal sella turcica morphology 0.3191838233598881 0.1419595949700724 0.8871119209314551 1.0 1.0 8 Q9UNE7,O75147,Q96AX1 3 |
| Impaired mastication 0.3370653522061323 0.1417479489806019 0.8872790994838256 1.0 1.0 6 P06753 1 |
| Aplasia hypoplasia of the phalanges of the hand 0.2285733730473931 0.1411519095655179 0.8877499362141492 1.0 1.0 59 O15111,Q9UHX1,Q8IWS0,P38435,O75844,P16435 6 |
| Abnormal number of granulocyte precursors 0.4498129675810551 0.1409583394837629 0.8879028539340419 1.0 1.0 2 Q07020 1 |
| Central apnea 0.3183775103620999 0.1397704980520433 0.8888413235878527 1.0 1.0 8 Q10713 1 |
| Congestive heart failure 0.2286231971488002 0.1391766622721734 0.889310549813422 1.0 1.0 60 Q9Y4P3,Q15555,P40939,P22626,Q70HW3,P00403,P03886,O75306,P31040,P15924,Q96MF7,Q96AX1 12 |
| Abnormality of fibula morphology 0.2787389979245886 0.1386799212679555 0.8897030852722632 1.0 1.0 13 P16435 1 |
| Cavum septum pellucidum 0.3030978441784264 0.1382982955888466 0.8900046724905044 1.0 1.0 10 P28482,P43034,Q13363 3 |
| Primary adrenal insufficiency 0.268818008329023 0.1381071697395933 0.8901557194465839 1.0 1.0 17 P16435,P40855 2 |
| Slender build 0.2826894743317179 0.1372891675625079 0.8908022323941946 1.0 1.0 12 P06753,P51530,Q15233 3 |
| Painless fractures due to injury 0.4473192019950209 0.1367148986292321 0.891256152710006 1.0 1.0 2 Q9H4A3 1 |
| Mandibular prognathia 0.2407486870687245 0.1349806158549325 0.8926272003648088 1.0 1.0 40 P27635,Q9UHX1,O00170,Q06210 4 |
| Neoplasm of the adrenal gland 0.2733451715062516 0.1334154391766197 0.8938648358629766 1.0 1.0 14 O96017,P48735,P04637,P31040,P25490 5 |
| Central scotoma 0.315195851328341 0.131275249271472 0.8955575705524856 1.0 1.0 8 P03886 1 |
| Pseudoepiphyses 0.3323970037453166 0.1310035564534238 0.8957724940105063 1.0 1.0 6 O43318,O96028,Q13363,O95202,P51812 5 |
| Bladder neoplasm 0.3004614399508345 0.1303862693129055 0.8962608293539234 1.0 1.0 10 O96017,P04637,P63167 3 |
| Bradycardia 0.2920852050791448 0.1297418805097125 0.8967706467293306 1.0 1.0 11 Q9H0U9,O43772 2 |
| Abnormal enchondral ossification 0.2461319478968325 0.1289922312175067 0.8973637960622907 1.0 1.0 31 P40855,P38435,Q13363,Q14739,Q9Y619 5 |
| Aplasia hypoplasia of toe 0.2419561021388527 0.1280287112392622 0.8981262517264441 1.0 1.0 35 Q8N806,Q9UHX1,Q9NXH9,Q8IWS0,P42858,Q13510,Q13363,P13073,Q9H2M9 9 |
| Hypomelanotic macule 0.4417082294264424 0.1275296256822173 0.8985212267049176 1.0 1.0 2 P49815 1 |
| Radioulnar synostosis 0.2529415610272809 0.1274220931881651 0.8986063309290528 1.0 1.0 23 P16435,Q13363,P61254,Q9Y4P3 4 |
| Sparse lateral eyebrow 0.385959438377528 0.1272064372163665 0.8987770106117359 1.0 1.0 5 P61978,Q08J23,Q9H7D7,Q00577 4 |
| Eclabion 0.2417530735562894 0.1269333141596673 0.8989931790084604 1.0 1.0 35 Q9Y4P3,Q13642,P40925,P04062,Q9H2M9,Q69YQ0,P27635,Q96EK5,O43175,O75147 10 |
| Hyperhidrosis 0.2466824659036359 0.1267517678842821 0.899136871381041 1.0 1.0 29 O00170,P04066,Q9NX24,P31040,P25490 5 |
| Synostosis of joints 0.2400431753743781 0.1255308406352507 0.9001033108437901 1.0 1.0 37 Q9UHX1,P61254,Q9Y4P3,Q15233,Q13363,P16435 6 |
| Abnormality of the upper arm 0.2547551587602014 0.1247003888539264 0.9007607495440072 1.0 1.0 22 P16435,O14979 2 |
| Ureteropelvic junction obstruction 0.3838401552173053 0.1231991058647048 0.9019494335924984 1.0 1.0 5 P25490,Q9Y2B2 2 |
| Abnormal cerebral artery morphology 0.2628015214408935 0.1229957491780165 0.9021104640737804 1.0 1.0 18 Q63HN8,P38435 2 |
| Abnormal morphology of the conjunctival vasculature 0.3118784354479693 0.1226615572036894 0.9023751068242528 1.0 1.0 8 P04066,P23025 2 |
| Aplasia hypoplasia of the epiglottis 0.438279301745642 0.1221616366052834 0.9027710083944274 1.0 1.0 2 P38919 1 |
| Bruxism 0.3112691433655597 0.1211067455736033 0.90360648631119 1.0 1.0 8 P61978,O95352 2 |
| Pterygium 0.2696127110550944 0.120665605698656 0.9039559025621072 1.0 1.0 14 O15111,O43175 2 |
| Pericardial effusion 0.3099951053030952 0.1178830018520678 0.9061603618862282 1.0 1.0 8 Q7L590 1 |
| Abnormal saccadic eye movements 0.2493696857080478 0.1175363136209479 0.9064350693510932 1.0 1.0 25 O60231,P22307,Q10713,P04062,P13639,Q9UHD1,O75306 7 |
| Abnormal circulating carbohydrate concentration 0.2368282630326673 0.1158273493787779 0.9077893747241657 1.0 1.0 41 Q8N183,Q5JRX3,Q9Y6M9,P22695,O43676,O75380,Q00796,Q86Y39,Q96CU9,O75306,Q70HW3,P03886,P08559,Q9NP80 14 |
| Dysmetria 0.225156424506712 0.1146204353930965 0.9087459813622204 1.0 1.0 60 Q5JRX3,Q9UBB4,Q9Y4P3,Q96BR5,Q10713,Q06787,Q6P4A7,P54136,Q13501,Q6DKK2,Q9NP80,Q8N183,Q8N2K0,O75027,Q69YN2,Q13472,Q6PJG6,O15121,Q8IV08,Q9UNE7,O75787,Q9Y3E5 22 |
| Nonprogressive cerebellar ataxia 0.4712768310919947 0.1138806575166726 0.909332398869301 1.0 1.0 3 O75027 1 |
| Secondary amenorrhea 0.2675425120521621 0.1138051323122249 0.9093922700328324 1.0 1.0 14 Q13144,P49770 2 |
| Abnormality of the humeroradial joint 0.2947159884880016 0.1137743355479402 0.9094166837273192 1.0 1.0 10 P16435 1 |
| Cutaneous photosensitivity 0.2476315783978935 0.113747337212968 0.9094380863416548 1.0 1.0 26 P22830,Q06136,Q9Y3Z3 3 |
| Aplasia of the uterus 0.3082448469706405 0.113514807144181 0.909622424553762 1.0 1.0 8 Q8IY37,O96028,Q96GM8,Q9Y5S9,Q13363,O95202,P30153 7 |
| Abnormal basal ganglia mri signal intensity 0.2437635812894379 0.1125522421364886 0.9103855496147146 1.0 1.0 29 Q9P0J0,Q8NI60,Q96CU9,O75306,Q969Y2,P03886,P08559,P31040,O95299 9 |
| Nephropathy 0.2518781743787352 0.1121607741944798 0.9106959305217665 1.0 1.0 22 P00403,P03886,Q10713 3 |
| Late onset 0.2938259168270436 0.1112788292963188 0.9113952429022164 1.0 1.0 10 P31930 1 |
| Rieger anomaly 0.4585310701059475 0.1105055730609446 0.9120084302771684 1.0 1.0 4 Q13363 1 |
| Abnormality of the hypothalamus pituitary axis 0.2249242942642831 0.1102423233579693 0.9122171976248604 1.0 1.0 77 Q4J6C6,O14654,Q9Y285,Q9UHX1,Q15233,O00170,Q16658,Q10713,Q06787,Q8WWQ0,Q96MF7,P16435,P04637,P25490 14 |
| Progressive spasticity 0.256350464832877 0.1075758843662492 0.9143321274438424 1.0 1.0 19 O43681,O15121 2 |
| Skin pit 0.2688615674961291 0.1063732921892145 0.9152861825757688 1.0 1.0 13 P61978,P16615,Q13363 3 |
| Cholecystitis 0.2989099644259109 0.1062171394402758 0.9154100725662068 1.0 1.0 9 O43681 1 |
| Ependymoma 0.3206751203817118 0.1058926682954965 0.9156675112142768 1.0 1.0 6 O96017,P04637,P49815 3 |
| Abnormality of the calf 0.2232957538666571 0.1043139140898009 0.9169202363067246 1.0 1.0 59 Q9NR77,Q08426,Q9Y619,Q13126 4 |
| Decreased specific antibody response to vaccination 0.4640345565201365 0.1040828789834358 0.91710357764773 1.0 1.0 3 P17812 1 |
| Enchondroma 0.2980519486387957 0.1040218580358103 0.9171520024636736 1.0 1.0 9 P48735,Q9Y3Z3 2 |
| Abnormal tricuspid valve physiology 0.2496803469264806 0.102858270638226 0.918075457180475 1.0 1.0 22 P40939,P14854,Q15233,P53701 4 |
| Right ventricular hypertrophy 0.3711053160258349 0.1006146126687506 0.9198563963420412 1.0 1.0 5 Q15233 1 |
| Subcortical heterotopia 0.451238506319754 0.1002672957148963 0.9201321208546348 1.0 1.0 4 O00139 1 |
| Subcortical band heterotopia 0.451238506319754 0.1002672957148963 0.9201321208546348 1.0 1.0 4 O00139 1 |
| Abnormal distal phalanx morphology of finger 0.2247965412066426 0.0994240091677436 0.9208016206467976 1.0 1.0 49 O15111,Q8IWS0,P38435,O75844,P16435 5 |
| Abnormal echocardiogram 0.4503442207388302 0.099055541047136 0.9210941715185051 1.0 1.0 4 P12235,Q969Y2 2 |
| Atrophy degeneration affecting the brainstem 0.2626264385062399 0.0981230742823365 0.9218345653102058 1.0 1.0 14 O15121 1 |
| Abnormal platelet morphology 0.3164930358800738 0.0975831222351373 0.9222633270394898 1.0 1.0 6 O75845 1 |
| Titubation 0.2697738585370477 0.0969827294861159 0.9227401096631488 1.0 1.0 12 Q5JRX3,Q96JI7,Q6PJG6,P35637,Q9BYI3 5 |
| Deviation of the hallux 0.239581458687304 0.0945788275273058 0.9246493676219648 1.0 1.0 30 Q8N806,Q15233,Q9Y4P3,Q9NXH9,P04062,P25490 6 |
| Skin vesicle 0.2796247332964301 0.093409945954185 0.9255778893379458 1.0 1.0 11 Q14574,P16615 2 |
| Irregular femoral epiphysis 0.4555432242110154 0.0934064293581567 0.9255806829616922 1.0 1.0 3 Q9NUQ7 1 |
| Neck muscle weakness 0.25243818437314 0.0926770339901556 0.9261601426928334 1.0 1.0 19 Q06210,P46976,P06753 3 |
| Hyporeflexia 0.2293898373092896 0.0923316220250008 0.9264345649277574 1.0 1.0 119 Q9H0U9,Q9NR77,P23025,P03886,P06753,Q9NZJ7,Q9UBB4,Q96BR5,P40939,Q10713,Q06787,P35637,Q13501,Q15067,O43776,Q8N2K0,Q16637,P04062,P35610,P07602,P12235,Q9HC21,P05023,O43681,Q13642,O14979,P26358,O15269,O75787,Q96AX1 30 |
| Hyperconvex fingernails 0.3133583021223455 0.0915785670078241 0.9270328809282706 1.0 1.0 6 Q15149,O96028,Q13363,O95202,P51812 5 |
| Decreased activity of the pyruvate dehydrogenase complex 0.2501445715873303 0.0897289490725425 0.9285026106929656 1.0 1.0 20 Q9P0J0,Q96CU9,O75306,P08559,P31040,O95299 6 |
| Abnormality of lower limb metaphyses 0.305487325429682 0.0894600538486363 0.9287162986611854 1.0 1.0 7 P04637,Q9NUQ7 2 |
| Calvarial skull defect 0.3050210894773672 0.0885083024448633 0.9294726858413328 1.0 1.0 7 Q14739 1 |
| Blepharitis 0.255093365231391 0.088403668260053 0.9295558458634624 1.0 1.0 17 Q15800,P78536 2 |
| Gait ataxia 0.2226935889482595 0.0871402401639884 0.930560039995393 1.0 1.0 70 Q9NR77,P42858,P27635,P03886,Q9NZJ7,Q9UBB4,Q96BR5,P26639,Q10713,Q06787,Q13501,P31040,O43776,Q13363,P07602,P12235,Q69YN2,P41091,O43681,Q6PJG6,P13639,Q8IV08,O15118 23 |
| Physical urticaria 0.4120947630922759 0.0871061484658418 0.9305871381958086 1.0 1.0 2 Q6P1M0 1 |
| Autoamputation of digits 0.4474586841284662 0.0840375997918994 0.933026537178148 1.0 1.0 3 P48643,Q9H4A3 2 |
| Acral ulceration 0.4474586841284662 0.0840375997918994 0.933026537178148 1.0 1.0 3 P48643,Q9H4A3 2 |
| Abnormality of taste sensation 0.4474586841284634 0.0840375997918963 0.9330265371781504 1.0 1.0 3 O95163,Q9H4A3 2 |
| Decreased corneal reflex 0.4474586841284634 0.0840375997918963 0.9330265371781504 1.0 1.0 3 O95163,Q9H4A3 2 |
| Widow s peak 0.438539275909239 0.0839448067588232 0.933100314614786 1.0 1.0 4 P29372 1 |
| Cerebral hypomyelination 0.2520788553580821 0.0836390205063657 0.933343441735626 1.0 1.0 18 Q13144,P49770,Q9Y2B2,Q9BYI3,O43175 5 |
| Freckling 0.2576894143162949 0.083243826775854 0.9336576649185152 1.0 1.0 14 P11802,Q06124,P52701,P23025 4 |
| Mitral valve prolapse 0.2420190664927097 0.0825256658564173 0.9342287095390472 1.0 1.0 24 Q9Y4P3,P55795,P28482,Q06787,P53701,P06753 6 |
| Generalized lymphadenopathy 0.4077306733167154 0.0822416382262728 0.9344545630559034 1.0 1.0 2 P50851 1 |
| Hypoplasia of the femoral head 0.4077306733167148 0.0822416382262722 0.9344545630559038 1.0 1.0 2 Q99575 1 |
| Abnormal mitochondrial shape 0.4366812227074185 0.0817146415670769 0.9348736350116982 1.0 1.0 4 Q00325,Q7Z406,P53597 3 |
| Centrally nucleated skeletal muscle fibers 0.3009034492962905 0.0803027906505898 0.935996438765864 1.0 1.0 7 P06753 1 |
| Pyoderma gangrenosum 0.4046134663341736 0.078929223603789 0.9370889186715676 1.0 1.0 2 O75083 1 |
| Poor motor coordination 0.2595487386859898 0.0789211006356135 0.9370953797076098 1.0 1.0 13 Q10713,Q06787,Q8TC12 3 |
| Increased intracranial pressure 0.2484618211941914 0.0782472631194524 0.9376313667036388 1.0 1.0 19 Q16658,P52701,P07602,Q9NZJ7 4 |
| Depression 0.2152136254977336 0.0758770661376659 0.9395169028202002 1.0 1.0 105 P36551,P28482,P49589,Q9NWW5,P03886,Q92766,Q9NZJ7,Q96N66,Q9UBB4,Q9Y4P3,Q06787,P35637,P21964,Q13501,Q6DKK2,P31040,P49591,O00170,Q16658,P04062,Q8WWQ0,P09651,P07602,P00403,P12235,Q9NUQ7,P31930,Q96F86,O43681,P26358,P51530,Q13148,P52701 33 |
| Progressive extrapyramidal movement disorder 0.3549443018767247 0.0756155867952493 0.9397249354986776 1.0 1.0 5 P54136 1 |
| Intermittent diarrhea 0.3038767597992748 0.0745797442376191 0.940549090988286 1.0 1.0 6 Q4G176,P04637 2 |
| Babinski sign 0.2079326015725574 0.0745789016184712 0.9405497614339648 1.0 1.0 97 Q9NR77,P42858,Q9BYI3,Q9UHD1,Q9NZJ7,Q9UBB4,P40939,O00400,P35637,P60891,Q13501,Q6DKK2,Q15067,P31040,P49902,Q8N2K0,O60488,P07602,O75027,Q69YN2,Q96C36,P41091,O43681,Q6PJG6,P26358,O15121,P13639,O75787,Q13148 29 |
| Abnormal circulating proline concentration 0.4380763662311399 0.0741104088095235 0.940922533006824 1.0 1.0 3 O95298 1 |
| Shield chest 0.3035366529097011 0.0740022868740799 0.9410085655899172 1.0 1.0 6 P04066 1 |
| Adrenal overactivity 0.352048251337054 0.0715612505144802 0.9429510785869888 1.0 1.0 5 P04637 1 |
| Amblyopia 0.2484802322479632 0.0715425305506626 0.9429659767713272 1.0 1.0 18 Q9UHX1 1 |
| Abnormal skin morphology of the palm 0.2093006376301198 0.071164310006031 0.9432669858611432 1.0 1.0 99 P16615,P27635,Q9NX24,Q06136,P25490,P15924,P09493,Q14739,P31040,Q8N806,Q9UHX1,O00170,P62266,Q13363,P42166,Q13535,P40855,Q8NCH0,Q96AX1 19 |
| Renal hypoplasia aplasia 0.2157969333141811 0.0706920073037733 0.9436428821713508 1.0 1.0 86 Q15392,Q6PGP7,Q9UHX1,P61254,P62273,P16435,Q86XL3 7 |
| Mild postnatal growth retardation 0.3961970074813062 0.070640626974956 0.9436837755097488 1.0 1.0 2 Q9Y3E5 1 |
| Hepatocellular adenoma 0.396197007481305 0.0706406269749549 0.9436837755097498 1.0 1.0 2 Q9UKG1 1 |
| Neoplasm of the heart 0.396197007481305 0.0706406269749549 0.9436837755097498 1.0 1.0 2 P49815 1 |
| Cerebral hamartoma 0.4265365654059694 0.0702338577845031 0.9440075262381488 1.0 1.0 4 O43924,Q9H269 2 |
| Nail dystrophy 0.2379853607283317 0.0688920208221403 0.9450755698919526 1.0 1.0 25 Q9NX24,P15924,P16615,O75844 4 |
| Abnormality of the pulmonary vasculature 0.22845447112571 0.0676421469414602 0.9460705038040468 1.0 1.0 39 P60953,Q8N806,Q15392,Q6PGP7,Q9Y4P3,Q9NXH9,Q9Y2B2,P27635 8 |
| Telangiectasia 0.2280966324273721 0.0674307507600441 0.9462387893255356 1.0 1.0 40 Q63HN8,Q14739,Q13535,Q9Y2B2,Q9H1A4,O75306,P23025,Q9NX24,P03886,Q14331 10 |
| Respiratory failure 0.2191556932553476 0.067036387518717 0.9465527352893626 1.0 1.0 65 P23526,Q5XKP0,P06753,P15924,Q9NZJ7,P40939,P35637,Q13510,Q8NBU5,Q969Y2,Q70HW3,Q13501,Q9Y619,P23786,Q8N183,Q16637,Q9BT22,P09651,P07602,P53701,O75306,P14923,Q13148 23 |
| Glomerular sclerosis 0.2296847408342285 0.0669963859129021 0.946584580361463 1.0 1.0 35 P00403,P03886,O95470,P31040 4 |
| Wide intermamillary distance 0.2366811260460481 0.0667646602305046 0.9467690576597808 1.0 1.0 26 P61978,Q06124,Q8WWQ0,Q15555,P23786,Q96EK5 6 |
| Tetraplegia 0.2517060364050312 0.0663856665918999 0.9470707814314484 1.0 1.0 14 O43681,P60891,P43034,P51970 4 |
| Germ cell neoplasia 0.2865308033080744 0.0651948533302999 0.9480188588605314 1.0 1.0 8 P20585,P04637 2 |
| Cerebral white matter atrophy 0.2418458369819738 0.0651415274479598 0.9480613165064072 1.0 1.0 21 O43175 1 |
| Abnormality of lower lip 0.2193404245610337 0.0651008987464833 0.948093664856273 1.0 1.0 70 Q9Y4P3,O00170,Q13642,P62266,P40925,P04062,Q9NR45,Q9Y2B2,P04066,Q06124,O60488,P27635,Q96EK5,Q9Y619,P25490,O43175,O75147 17 |
| Increased circulating cortisol level 0.4205198995935411 0.0639692577962813 0.9489947053797464 1.0 1.0 4 P04637 1 |
| Abnormal epiphyseal ossification 0.2472404355114582 0.06343569612962 0.9494195630781984 1.0 1.0 17 Q14739,P38435,P40855 3 |
| Progressive visual loss 0.2365057663797767 0.0630962378592146 0.9496898700851644 1.0 1.0 25 O00170,Q8TC12,Q9NWW5,P03886,P07814,O75306 6 |
| Colpocephaly 0.2853688635046552 0.0629158511096915 0.949833512491186 1.0 1.0 8 O94979,P53701 2 |
| Polymicrogyria 0.2185833827324372 0.0626142304442428 0.9500736973979584 1.0 1.0 75 Q96N66,Q15392,Q10713,P40855,Q01105,P67870,Q96EK5,O43175 8 |
| Generalized tonic seizure 0.2456167882389482 0.0623201763029025 0.95030786133896 1.0 1.0 18 P27635,Q01105 2 |
| Aplastic anemia 0.2847015338016327 0.0616209690829469 0.9508646777605784 1.0 1.0 8 Q9NX24 1 |
| Pseudobulbar paralysis 0.2838842166012834 0.0600489528296225 0.9521166462845316 1.0 1.0 8 P54136,O94979,Q15233 3 |
| Endocarditis 0.3426672922080324 0.0592946887083661 0.9527173914702212 1.0 1.0 5 P04062 1 |
| Ureteral stenosis 0.2891824342538033 0.0589019403338043 0.953030212574113 1.0 1.0 7 P25490 1 |
| Disproportionate short limb short stature 0.2411986108481035 0.0577295126777558 0.9539640851738886 1.0 1.0 20 Q15392,Q96MF7 2 |
| Bifid tongue 0.4137613495802914 0.0574018338406632 0.9542251022192324 1.0 1.0 4 P61978,Q6DKJ4 2 |
| Abnormality of the cerebrospinal fluid 0.2442278779482961 0.0564665337760485 0.9549701551492846 1.0 1.0 142 Q9NR77,P16435,P03886,Q92766,Q00839,Q9P0J0,O43676,Q8NI60,Q10713,Q86Y39,P21964,P23786,P31040,O60508,P07237,P04062,Q9Y3Z3,Q13363,P53701,P07602,P00403,P04637,O75306,Q15392,P14854,O43681,P26358,P40855,P13073,Q96AX1 30 |
| Hypopigmented macule 0.340093603744143 0.0561569398244002 0.9552167840407336 1.0 1.0 5 Q9H488,P21359,P49815,Q15233 4 |
| Antinuclear antibody positivity 0.412351840299439 0.0560935445610107 0.955267286537425 1.0 1.0 4 Q13546,P53621,P49327 3 |
| Abnormal cell morphology 0.4119074808968098 0.0556854283918366 0.9555924079485733 1.0 1.0 4 P46976 1 |
| Corticospinal tract hypoplasia 0.3771820448877886 0.0552023745488375 0.9559772372057962 1.0 1.0 2 Q13045 1 |
| Focal cortical dysplasia 0.4153414405986902 0.054030602940147 0.9569107822248522 1.0 1.0 3 P49815,P42345 2 |
| Abnormal lateral ventricle morphology 0.2314185250850639 0.0536029450120574 0.957251510107211 1.0 1.0 28 P63000,Q01105,O94979,P67870,O75787,P53701 6 |
| Abnormal salivary gland morphology 0.3371033383742209 0.0526320621098853 0.9580250704963412 1.0 1.0 5 P16615 1 |
| Abnormal sacrum morphology 0.2282590716501918 0.0525726191515706 0.9580724335427502 1.0 1.0 33 Q9Y4P3,P01889,P61978,P04066,P49366,Q13363,P53701,P27635,Q14739,P43034 10 |
| Abnormality of ocular smooth pursuit 0.2346635946576227 0.0523053039932902 0.9582854271287216 1.0 1.0 23 Q9UBB4,Q10713,Q06787,Q96KG9,Q9BTW9,P13639,Q9UNE7,P54136,P46977,P43034,P62873 11 |
| Conjugated hyperbilirubinemia 0.4122232616152098 0.0516890825718698 0.9587764364573346 1.0 1.0 3 Q9H267,Q86SX6 2 |
| Patent foramen ovale 0.2288738427436736 0.0502486481767074 0.95992424485148 1.0 1.0 31 Q8N806,P29401,O43318,Q15233,Q86XI2,P63000,Q8NFG4,O75431,P25490,O43175,Q96AX1 11 |
| Abnormal blood ion concentration 0.2165240365540932 0.049150206986409 0.9607995923377392 1.0 1.0 67 Q4J6C6,Q6PGP7,Q9Y4P3,P36551,O00170,P40939,Q08426,P21964,P04637,Q92766,P31040 11 |
| Increased circulating igg level 0.4078578110383486 0.0485680062797391 0.9612635671524992 1.0 1.0 3 P29144,P49327 2 |
| Rheumatoid factor positive 0.4078578110383483 0.0485680062797388 0.9612635671524994 1.0 1.0 3 Q13546,P49327 2 |
| Xerostomia 0.2442749613229665 0.0472396880547119 0.9623221963214652 1.0 1.0 14 Q13501,Q14739,P35637,P09651 4 |
| Pseudoepiphyses of hand bones 0.3322932917316649 0.0472302766354136 0.9623296971752088 1.0 1.0 5 O96028,Q13363,O95202,P51812 4 |
| Food allergy 0.4053632678515694 0.0468649362710464 0.9626208741745296 1.0 1.0 3 Q6P1M0,Q9Y5S9 2 |
| Antineutrophil antibody positivity 0.4047396320548699 0.0464481439111746 0.9629530646027952 1.0 1.0 3 P49327,Q96J02 2 |
| Abnormal metatarsal morphology 0.2320543647211169 0.0463979379694847 0.9629930800067132 1.0 1.0 25 Q15392 1 |
| Non hodgkin lymphoma 0.2670492957078073 0.0461432082731108 0.963196107444296 1.0 1.0 10 O96017,P04637 2 |
| Areflexia 0.213229531476158 0.0458046557272684 0.9634659479738223 1.0 1.0 84 O60231,Q13501,P12235,Q9NR77,Q13642,P40939,Q16637,Q06210,Q13510,Q9BT22,O75787,P06753,Q969X5,Q15067 14 |
| Abnormality of the diaphragm 0.2317844809771517 0.0454212322934874 0.9637715575280472 1.0 1.0 25 O15111,Q7LBC6,P08243,Q13363,P53701 5 |
| Tongue atrophy 0.3306043065169768 0.0454108237564498 0.9637798537786486 1.0 1.0 5 Q9NQT5,Q14331,Q9Y6X9 3 |
| Proximal muscle weakness 0.2150357506971403 0.0452415303852036 0.9639147916620344 1.0 1.0 63 Q13126,P36551,P12235,Q8NI60,Q16637,Q13642,P50402,P22626,Q00796,Q06210,Q13510,Q13501,P31040,P06753 14 |
| Decreased number of peripheral myelinated nerve fibers 0.2419041258564826 0.0449908203937442 0.9641146258112724 1.0 1.0 15 Q9NR77,P26358 2 |
| Thin nail 0.4019649402390027 0.0446366381352516 0.9643969387428436 1.0 1.0 3 Q9H1A4 1 |
| Abnormal endocardium morphology 0.2416639342221627 0.044398421150845 0.9645868201486448 1.0 1.0 15 Q7L590,P04062 2 |
| Pendular nystagmus 0.2837235656535426 0.0441377390961763 0.9647946106353208 1.0 1.0 6 P49589 1 |
| Acute myeloid leukemia 0.2253802049201402 0.0440751782997577 0.9648444783994204 1.0 1.0 34 P61254 1 |
| Enlarged kidney 0.2796469162324808 0.0435941290765094 0.9652279315687222 1.0 1.0 7 P23786 1 |
| Overgrowth 0.2830836454431943 0.0432942072770607 0.965467008817873 1.0 1.0 6 P61978,Q9H9B1,P21359,Q9UPY3,O75530 5 |
| Difficulty walking 0.2145094002520925 0.0421707277365843 0.9663625976759448 1.0 1.0 79 Q13501,O43681,Q13642,Q9NR77,P51530,P35637,Q9Y3Z3,Q06210,Q13510,Q00796,P06753,P07602,P54136,P46976,Q15067,Q9HC21,Q9NZJ7 17 |
| Abnormal visual electrophysiology 0.2105166801288264 0.0416398990857344 0.9667857659393266 1.0 1.0 54 P14854,O43681,P40939,P07602,O43924,Q15555,Q15067 7 |
| Hypogonadism 0.2054097466370713 0.0414182722750562 0.9669624461266916 1.0 1.0 95 Q4J6C6,O95470,Q9Y4P3,O00170,Q8IWS0,Q15555,Q9BT22,Q8WWQ0,O75844,P00403,P03886,O43175 12 |
| Abnormal qrs complex 0.3513092269326758 0.0405224667913596 0.9676765958405992 1.0 1.0 2 P14923 1 |
| Impaired distal proprioception 0.3897723729342043 0.0374739243195182 0.9701071309175688 1.0 1.0 3 Q96RR1,O14802 2 |
| Myoclonus 0.2048558956341102 0.0374605148946763 0.9701178225835444 1.0 1.0 95 Q9H0U9,P42858,Q9ULM3,Q9NWW5,P03886,Q9NZJ7,Q9NQZ5,O75845,Q14353,P27544,Q8NI60,Q10713,P52788,Q9UBX3,Q13510,P67870,P31040,O43776,O14936,P04062,Q9Y2B2,Q01105,P07602,P00403,P00374,Q96CU9,P13073,Q96AA3 28 |
| Bone spicule pigmentation of the retina 0.2707459893544092 0.036858031699132 0.9705982028443204 1.0 1.0 8 Q9UG56,Q15555 2 |
| Cystoid macular edema 0.321129234015015 0.0359285095418294 0.9713393632109464 1.0 1.0 5 P04439 1 |
| Progressive proximal muscle weakness 0.3397755610972648 0.0359136935017603 0.9713511770762444 1.0 1.0 2 Q7Z392 1 |
| Central hypoventilation 0.274348732022218 0.0358833547566693 0.9713753682998588 1.0 1.0 7 P06753 1 |
| Ankle clonus 0.2371337309769987 0.0350543450995623 0.972036406350373 1.0 1.0 17 Q96JI7,P42858,P49589,Q9UNE7,O75787,P07602,Q9NZJ7 7 |
| Abnormal neuron morphology 0.2271974075263324 0.0343336654997496 0.9726110795002584 1.0 1.0 27 P22307,Q16637,P35637,P22626,Q13510,P09651,Q13501 7 |
| Generalized amyotrophy 0.2269056149844553 0.0333059667653578 0.973430595610449 1.0 1.0 27 Q13043,Q96KG9,P49589,P22626,P35637,P51530,Q99567,Q13148,P09651,Q13501,P06753 11 |
| Gonadal neoplasm 0.2288356038380309 0.0332892931136281 0.973443891886688 1.0 1.0 24 O96017,P48735,Q01844,Q16658,P20585,P04637 6 |
| Episodic ataxia 0.382026700753838 0.0327461112929103 0.9738770520966216 1.0 1.0 4 P08559 1 |
| Distal lower limb muscle weakness 0.2320325373244367 0.0324294063314287 0.9741296119545636 1.0 1.0 21 Q9NR77,P06753 2 |
| Prematurely aged appearance 0.2194625294438181 0.0320500917549627 0.974432103950839 1.0 1.0 42 O75844 1 |
| Fever 0.2110123354730639 0.0315169802310671 0.9748572506055466 1.0 1.0 84 Q14739,Q9NR77,P49770,Q9Y3Z3,Q13510,P35610,Q7L590,P07602,P00403,P03886,P23786 11 |
| Emg axonal abnormality 0.324501246882801 0.0312785160637103 0.9750474237213328 1.0 1.0 2 Q96JI7 1 |
| Abscess 0.2636676038737951 0.0310840374604752 0.9752025197799072 1.0 1.0 9 O14920,Q8WX93,P38398,P04637,Q13546,O75083,P54132,Q8TAA9 8 |
| Spotty hyperpigmentation 0.3226309226932748 0.0308108304039089 0.9754204031083912 1.0 1.0 2 O75531 1 |
| Delayed myelination 0.2125139256917065 0.0299347276120012 0.9761191096226848 1.0 1.0 79 Q00839,O60508,Q53FT3,Q9Y584,P08243,P25490,O43175 7 |
| Abnormality of the musculature of the limbs 0.2612747648603002 0.029605464685146 0.976381707036884 1.0 1.0 168 P18077,Q9NR77,P36551,P50402,Q9BYI3,Q06124,P49366,O95298,Q14331,P06753,Q9NZJ7,O60231,Q13126,P61254,Q96BR5,P40939,O00400,P61313,Q06210,Q13510,Q969X5,P54136,Q14739,P46976,Q15067,Q13501,P31040,Q9Y487,Q16637,Q00796,P62273,P09651,P07602,P12235,Q9HC21,O75147,Q96C36,Q9BW92,P05023,Q13642,O14979,P51530,O15269 43 |
| Concave nail 0.3709637119772526 0.028739088993313 0.9770726807242752 1.0 1.0 3 P26639 1 |
| Tiger tail banding 0.3709637119772526 0.028739088993313 0.9770726807242752 1.0 1.0 3 P26639 1 |
| Abnormal mean corpuscular hemoglobin concentration 0.3709637119772526 0.028739088993313 0.9770726807242752 1.0 1.0 3 P26639 1 |
| Increased mean corpuscular hemoglobin concentration 0.3709637119772526 0.028739088993313 0.9770726807242752 1.0 1.0 3 P26639 1 |
| Skeletal muscle hypertrophy 0.2153595100650188 0.0280008894089385 0.9776614417803762 1.0 1.0 46 O60231,Q9NR77,O00170,Q10713,P04066,Q96A33,Q14331 7 |
| Hyperhomocystinemia 0.3677785275587529 0.0275090596175847 0.9780537140531478 1.0 1.0 3 P23526 1 |
| Abnormal temper tantrums 0.2634368037963075 0.025616317210021 0.979563371089296 1.0 1.0 8 P04062 1 |
| Sleep apnea 0.2246466733372826 0.0255189340474154 0.97964104621879 1.0 1.0 27 Q9H0U9,Q15233,Q4G0J3,O00170,Q8NFG4,P51530,P60891,Q96A33 8 |
| Cortical cataract 0.361708762082945 0.0253457857967595 0.97977915386297 1.0 1.0 3 P35240,Q01968 2 |
| Hypoplasia of the ear cartilage 0.3689956331877739 0.0252784543650105 0.9798328593654037 1.0 1.0 4 Q9NPF4,Q8WUM0,Q9Y3C4 3 |
| Hamartoma 0.229476863157606 0.0246913174768474 0.980301180620518 1.0 1.0 21 P48735,Q9H269,P20585,P11802,O43924,P31040,P52701 7 |
| Contractures of the large joints 0.3589024009978133 0.024422104826111 0.9805159164813986 1.0 1.0 3 P50542,O75431 2 |
| Neck flexor weakness 0.3066027292794398 0.0236588678874053 0.9811247154846672 1.0 1.0 5 P46976,P35637 2 |
| Failure of eruption of permanent teeth 0.3557842220143467 0.0234498886735929 0.981291410524247 1.0 1.0 3 O43318,A6NHR9 2 |
| Abnormal sacroiliac joint morphology 0.2630922693266925 0.0233706580881553 0.981354610064755 1.0 1.0 2 P01889 1 |
| Enthesitis 0.2630922693266925 0.0233706580881553 0.981354610064755 1.0 1.0 2 P01889 1 |
| Abnormal brainstem morphology 0.2058155780083204 0.0233609281088551 0.9813623713460506 1.0 1.0 91 O43676,Q10713,O15121,Q86Y39,P08243,P03886,Q96EK5 7 |
| Juvenile myelomonocytic leukemia 0.3627573300062406 0.0221845339637456 0.9823007546646898 1.0 1.0 4 P22681,Q06124,Q02750 3 |
| Myeloid leukemia 0.3627573300062406 0.0221845339637456 0.9823007546646898 1.0 1.0 4 P22681,Q06124,Q02750 3 |
| Abnormal t wave 0.3625039364034543 0.0220650769499649 0.9823960442462948 1.0 1.0 4 P14923,P46976 2 |
| Abnormality of the nasal septum 0.2637328339575513 0.0211542683370801 0.9831225946899288 1.0 1.0 6 Q15233,O75369,P51812,P22314,P21359 5 |
| Sprengel anomaly 0.2193851281213482 0.0208049257677276 0.9834012683960716 1.0 1.0 34 P61254 1 |
| Benign neoplasm of the central nervous system 0.2246149998837291 0.0195345769835048 0.98441465385658 1.0 1.0 24 O96017,Q9H269,Q16658,O43924,P04637,P31040,P52701 7 |
| Broad face 0.3558951965065533 0.0191139659641317 0.9847501902374688 1.0 1.0 4 P21333,Q9BZK7,Q6PJG6 3 |
| Decreased methylcobalamin 0.3376987839101946 0.0188265234692507 0.9849794949017956 1.0 1.0 3 Q99707,P11586 2 |
| Irregular hyperpigmentation 0.211399665027201 0.0183503075135079 0.985359394618011 1.0 1.0 71 Q8N806,O43684,Q6PGP7,Q14739,P28482,Q9NXH9,Q06124,Q8WWQ0,P16615,Q9H1A4,O75844,Q9NX24,Q15555,Q06136,P31040 15 |
| Basal ganglia cysts 0.260367114256237 0.0179384857398601 0.9856879267667008 1.0 1.0 6 P23786 1 |
| Atrial arrhythmia 0.2553506196814298 0.0177647991776424 0.9858264865129912 1.0 1.0 9 P50402 1 |
| Polysplenia 0.3320860617399458 0.017703580388306 0.9858753243594344 1.0 1.0 3 P54577,Q86Y56 2 |
| Broad toe 0.2202335044729274 0.0170847998729418 0.9863689650882072 1.0 1.0 29 Q8N806,P61586,Q96C36,Q9UHX1,Q9NXH9,Q9Y2B2 6 |
| Abnormal cns myelination 0.2412361240626537 0.0167434929277599 0.9866412496774312 1.0 1.0 145 Q9P0J0,O60508,P51648,P14854,Q9H9P8,O43681,O43676,O00400,P49770,Q9Y584,Q53FT3,Q86Y39,P03886,Q15067,O43175 15 |
| Split nail 0.2954758190327582 0.0159677477933106 0.987260121946154 1.0 1.0 5 P98172,P26639,P19447,P18074 4 |
| Abnormal posterior segment imaging 0.2578027465667897 0.015607342866444 0.9875476476367506 1.0 1.0 6 P50213,P04439,Q9H0F7,Q96S66,Q9C0D9 5 |
| Abnormal phalangeal joint morphology of the hand 0.2153956230974458 0.0151245419253038 0.9879328215750725 1.0 1.0 42 Q9Y619,O75844 2 |
| Acidemia 0.2319566118158891 0.014821834579226 0.9881743200189734 1.0 1.0 13 Q9H9P8 1 |
| Right bundle branch block 0.2499589219454241 0.0145617307340588 0.9883818304640376 1.0 1.0 10 P46976,P14923,Q8NC56 3 |
| Increased vertebral height 0.3097924233766926 0.0144008546355368 0.9885101775607104 1.0 1.0 3 O75147 1 |
| Amenorrhea 0.2157079936966465 0.0132952522606053 0.9893922360015308 1.0 1.0 37 P16435,O00170,Q13144,P49770 4 |
| Hemoglobinuria 0.3400351360943434 0.0132292598026675 0.9894448857344224 1.0 1.0 4 O14936 1 |
| Buphthalmos 0.2964205717091819 0.0131226629881943 0.9895299303044388 1.0 1.0 3 Q86XI2 1 |
| Narrow palm 0.2915497349547924 0.0127578912620652 0.9898209516644254 1.0 1.0 3 O95714,P52788 2 |
| Spinal rigidity 0.2337174976950538 0.0126630610293801 0.9898966091312404 1.0 1.0 12 P50402 1 |
| Delayed cns myelination 0.216249694277582 0.0125093829252233 0.9900192168060516 1.0 1.0 35 Q9Y584 1 |
| Retrocollis 0.2825049045806629 0.0121985643732985 0.9902671952048092 1.0 1.0 3 P35637 1 |
| Suicidal ideation 0.2815715622076764 0.0121486741798686 0.990306998870377 1.0 1.0 3 P42858,Q01082 2 |
| Abnormal heart rate variability 0.3350661618869669 0.0117002968786332 0.9906647267592824 1.0 1.0 4 P07602 1 |
| Large fleshy ears 0.263486124103529 0.0114151117314229 0.9908922563871692 1.0 1.0 3 Q9BZK7,O43776 2 |
| Delayed eruption of primary teeth 0.2571132768926465 0.0112423968314862 0.9910300540962688 1.0 1.0 3 Q8NC56 1 |
| Excessive wrinkling of palmar skin 0.2482070470845087 0.0110563843798827 0.9911784613348488 1.0 1.0 3 Q9BZK7,Q9Y487 2 |
| Limb joint contracture 0.2142640613282608 0.0108767007081112 0.9913218195414402 1.0 1.0 114 P27635,Q15392,Q8N2K0,Q9NR77,Q8IWS0,P50402,Q06210,O75844,P16435,Q9Y619,P06753,O43175,Q86XL3 13 |
| Sparse and thin eyebrow 0.2292842157787537 0.0099466157577113 0.9920638797151278 1.0 1.0 13 P46778,Q96EK5 2 |
| Congenital ichthyosiform erythroderma 0.2845030118829602 0.0096879506640606 0.9922702546538452 1.0 1.0 5 P04062 1 |
| Abnormality of the nasal tip 0.2043512826958977 0.0092548680726501 0.9926157890655056 1.0 1.0 103 P61978,Q13409,O75844,P16435,Q92766,P25490,O75845,O43318,Q9UPP1,Q06787,P52788,P21964,P23786,P60953,O14936,Q8WXI9,Q9UHX1,Q9Y487,Q8NFG4,Q9Y2B2,O60488,Q9H2M9,Q96EK5,O75147,Q96C36,O43924,Q7LBC6,Q96A33,P35573,O00571 30 |
| Thenar muscle atrophy 0.3247036805988793 0.0089379679704482 0.9928686283025264 1.0 1.0 4 P41250,O60568,Q96JI7 3 |
| Adrenocortical carcinoma 0.3243328232997257 0.0088490860978558 0.9929395429718326 1.0 1.0 4 P04637 1 |
| Abnormality of prothrombin 0.225806503175501 0.0080721330000984 0.9935594396503176 1.0 1.0 14 P40939 1 |
| T cell lymphoma 0.3153462258265837 0.0068879461072674 0.9945042576018888 1.0 1.0 4 P52701,Q07864,P49327 3 |
| Hyperextensibility of the finger joints 0.3131628197130445 0.0064643368410042 0.994842241360528 1.0 1.0 4 P51812,Q9Y263,P52788 3 |
| Epileptic spasm 0.2078688719948842 0.0059904433760791 0.99522034630452 1.0 1.0 64 O60231,P49591,Q96N66,Q9NUQ7,O60508,Q96F86,P28482,Q01105,Q9UBX3,Q13510,P67870,P13073,P03886,P08559,P43034,O43175 16 |
| Prominent nasal tip 0.3101306528322834 0.005908000976692 0.9952861246580628 1.0 1.0 4 O75147 1 |
| Hypoplasia of the brainstem 0.2166053287638842 0.0054011106491097 0.9956905581544012 1.0 1.0 29 Q10713,Q96EK5 2 |
| Pericarditis 0.3021183556116154 0.0046048954437574 0.996325838006458 1.0 1.0 4 P01889,P14174 2 |
| Inguinal hernia 0.2083590490956163 0.0041820996735075 0.996663176965588 1.0 1.0 77 P60953,Q6PGP7,Q9UHX1,Q9Y4P3,Q7LBC6,Q10713,O43175,O94979,P21964,Q8NCH0,P27635,Q15555,Q92766,P43034,Q9NWM8,P51970 16 |
| Diffuse cerebellar atrophy 0.246616637629127 0.0041771923856849 0.9966670923805768 1.0 1.0 7 P19447,P26639,Q06787 3 |
| Broad phalanx of the toes 0.2427686465138632 0.0038911363049847 0.9968953302528792 1.0 1.0 6 O14936,Q6DKJ4 2 |
| Motor axonal neuropathy 0.2238555442449847 0.0038275061680268 0.9969460993786629 1.0 1.0 18 Q7Z392,P22626,Q9BTW9,O15269,P09651 5 |
| Flexion contracture of digit 0.2086083812192404 0.0036607853229153 0.9970791224343836 1.0 1.0 73 P60953,P27635,Q02127,Q13642,Q8IWS0,Q9Y2B2,Q8WWQ0,O75844,Q14004,Q92917,P16435,Q9Y619,P06753,P15924,O43175 15 |
| Thick hair 0.2424191584349553 0.0036562296405413 0.9970827573186878 1.0 1.0 6 Q96AX1 1 |
| Excessive daytime somnolence 0.2233384912788696 0.0036334718567834 0.9971009152823718 1.0 1.0 16 P35610 1 |
| Abnormality of the distal phalanx of the thumb 0.2711388455538171 0.0035891397624713 0.9971362869453176 1.0 1.0 5 P21333,Q69YN2,O75369,O43318 4 |
| Hypoventilation 0.2226233467969463 0.0024890012407118 0.9980140663887356 1.0 1.0 14 P61978,O75306,P06753,O75380 4 |
| Right ventricular cardiomyopathy 0.2771649685835288 0.0018224261739622 0.998545915097486 1.0 1.0 4 P15924 1 |
| Eeg with focal spikes 0.2709159843893694 0.0013634201734946 0.9989121484307186 1.0 1.0 4 P08559 1 |
| Oromandibular dystonia 0.2387817774075011 0.0013059091870544 0.9989580355179994 1.0 1.0 6 Q9H269,P35637 2 |
| Bronchospasm 0.2382501953644715 0.0009766266266618 0.99922076481679 1.0 1.0 6 Q9H0U9 1 |
| Broad femoral neck 0.2592014971927686 0.0006934225982536 0.9994467288590804 1.0 1.0 4 P48444,Q9NUQ7,Q8WVQ1 3 |
| Hypoplasia of the iris 0.2377634899785669 0.0006782625243421 0.99945882484515 1.0 1.0 6 Q12948,Q13363 2 |
| Chylothorax 0.26209048361934 0.0003059283803691 0.9997559044723996 1.0 1.0 5 P22681,Q06124,P49815,Q02750 4 |
| Abnormal c reactive protein level 0.2439176543980088 0.0001103169196682 0.99991197983318 1.0 1.0 4 P22314,P53621,P14174 3 |
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