| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Abnormality of the spleen 0.5732240236565036 4.656174073998338 3.22139595088089e-06 0.0145409551417349 0.0146476873886599 109 P07602,P10253,Q14108,P38571,P15586,P04066,Q14739,P16278,P54802,Q13510,P10619,P07686,P61916,Q15392,O95342,O15118,P04062,P51798,Q9Y285,P01889 20 |
| Splenomegaly 0.6176512347121557 4.329643701758141 1.493507860828025e-05 0.0656557284282376 0.0339549012159274 80 P07602,Q14739,P16278,Q15392,P10253,Q14108,O95342,P54802,O15118,P38571,P51798,P15586,Q13510,P61916,P04062,P01889,P04066 17 |
| Abnormality of femur morphology 0.6090347281688219 3.8628522254846422 0.0001120708071762 0.3992728958603346 0.1601672491561303 63 P07602,Q14739,P16278,P55011,Q96AY3,Q32P28,O75844,P51798,Q9Y619,P04062,P04066,P06280 12 |
| Abnormality of the lymphatic system 0.5128733463758808 3.7802631079248 0.0001566627164097 0.5095349107560307 0.1601672491561303 135 P07602,P10253,Q92890,Q14108,Q14376,P38571,P15586,Q13428,Q10713,P04066,O75533,Q14739,P16278,P54802,Q9BT22,Q13510,Q6NUQ1,P10619,P07686,P61916,Q96HY6,P12955,Q15392,P11166,O95342,Q04446,O15118,O15460,Q01844,Q13426,P04062,P48735,P33991,Q99496,O75845,Q96BN8,O15160,P51798,O60762,Q9Y285,Q04721,P01889,P50851 43 |
| Mental deterioration 0.5180937636585485 3.751009405677336 0.0001761240918805 0.5510782925324488 0.1601672491561303 93 P07602,O75503,P16278,P20700,O60934,Q14108,Q9Y4U1,P54802,O15118,P06865,Q9BQE5,P50897,Q13510,P04062,P07686,P61916,P15289 17 |
| Abnormal circulating lipid concentration 0.5641901715283283 3.565901969408193 0.0003626069061504 0.8077719022367712 0.1762332333062495 71 Q9BTV4,Q8N511,P07602,O43772,P38571,O75844,Q15125,P06280,P49257,Q14739,Q9UBM7,P40855,P56589,P61916,Q15392,Q13426,P37268,O75845,P50402,Q9Y4U1,Q9Y285,Q10471 22 |
| Recurrent respiratory infections 0.4820644177163397 3.5144161649683814 0.0004407217598589 0.8652593644587443 0.1762332333062495 111 P07602,P10253,Q00577,P20700,Q9Y487,P15586,O60826,P26038,P04066,P16278,Q16851,P02786,P54802,P09601,Q13510,P12955,O60934,Q6NW34,O15460,P53634,P04062,P33991,P51798,P01889,P50851 25 |
| Abnormal vertebral morphology 0.4723522803693248 3.4524224130356185 0.0005555772276899 0.9200945858246268 0.1762332333062495 102 Q14108,P15586,O60826,Q15125,P04066,Q9UM00,Q14739,P16278,Q9UBM7,P54802,P10619,Q96L58,Q9UBN7,Q32P28,Q6NUK1,P04062,P48735,Q96AY3,P51798,Q9Y619 20 |
| Abnormality of the vasculature of the eye 0.5556160242329001 3.4127856546571076 0.0006430249649567 0.9463232304623986 0.1762332333062495 67 Q14739,P07602,P16278,P02786,P06865,Q13510,P10619,P01889,P07686,P04066,P06280 11 |
| Weight loss 0.5450939696517243 3.373981515481134 0.0007408934262369 0.9656134920554348 0.1762332333062495 71 Q99496,P07602,O60934,Q99720,O15460,P38571,O75844,P35610,Q13423,Q06136,P42892,P04062,P01889 13 |
| Cognitive impairment 0.4835342871888647 3.3043495282534656 0.0009519706354803 0.986841300012334 0.1762332333062495 157 P07602,O75503,P20700,Q99720,Q14108,P06865,Q9Y487,Q9BQE5,P50897,Q8WVX9,O75165,P06280,P12235,P13473,P16278,P40855,P54802,Q4G176,Q13510,P56589,O96008,Q9UEY8,P07686,P61916,O60934,P11166,Q04446,O15118,Q13426,Q96QK1,Q6DKK2,P04062,P15289,Q99496,Q9Y4U1,Q9NQZ5,P35637,O96011,Q9Y619,P01889 40 |
| Abnormal circulating cholesterol concentration 0.7088646652265052 3.2886682963619123 0.0010066258207006 0.989739286310772 0.1762332333062495 30 O75845,Q8N511,P50402,P07602,Q14739,Q9UBM7,Q15392,P38571,Q10471,Q15125,P61916 11 |
| Abnormality of the tongue 0.5022531862356828 3.228480330938689 0.0012444981675423 0.9965253350901774 0.1762332333062495 84 Q99496,P10253,Q6NUK1,P16278,Q9UBM7,Q01433,P20700,P40855,O15460,O75844,O60826,Q9H4A3,Q13510,P56589,P01889,P07686,P04066 17 |
| Abnormality of bone mineral density 0.4682019807049566 3.225087881479299 0.0012593400461502 0.9967523637287894 0.1762332333062495 128 P07602,Q14108,O75844,Q9H4A3,Q15125,P06280,Q14739,P16278,P54802,Q13510,Q96L58,P52788,Q15392,P12955,Q32P28,Q9H490,P04062,Q96AY3,P51798 19 |
| Clumsiness 0.7938304393086031 3.194635897348521 0.0014000735168269 0.9982888591600192 0.1762332333062495 20 P07602,O75503,Q13510,O14773,Q9NR77 5 |
| Abnormality of the biliary system 0.4566159274906607 3.164452612609619 0.0015537496151714 0.9991501015910212 0.1762332333062495 113 O75845,P07602,Q14739,P12955,Q9UBM7,Q14108,O95342,P40855,O15118,Q14376,P38571,P09601,Q13510,P61916,P56589,P04062,P04066,P15289 18 |
| Hydrops fetalis 0.6121896694019351 3.159921449449004 0.0015781167889699 0.9992393711612524 0.1762332333062495 40 P46777,Q14739,P61353,P18077,P61313,P42766,P16278,P62847,Q9BT22,Q04446,Q9Y4U1,P61254,Q13510,P62244,P10619,P04062,P39019,Q07020 18 |
| Abnormal rib cage morphology 0.5288743620655568 3.133453148100517 0.0017276249693407 0.9996150142546382 0.1762332333062495 66 Q9UM00,Q14739,Q96HY6,P16278,Q9UBM7,Q9UBN7,P54802,Q32P28,P41227,O75844,P15586,O60826,P51798,Q9Y619,Q96L58,P04066,P50570 17 |
| Myoclonic seizure 0.5739561412663926 3.126815549478876 0.001767107558761 0.9996783819294218 0.1762332333062495 50 P07602,O75503,P16278,P52788,Q96N66,Q9Y3C6,Q13510,Q9Y619,P04062,P07686,Q01105 11 |
| Abnormal conjunctiva morphology 0.717111091086731 3.124725480312956 0.0017797106488113 0.99969632542019 0.1762332333062495 26 Q14739,P02786,Q13510,P10619,P04066,P06280 6 |
| Abnormality of temperature regulation 0.4463875024191973 3.117666546532817 0.0018228891976102 0.99975054725139 0.1762332333062495 101 P07602,Q14739,P10253,P20700,Q9Y4U1,O43772,O15460,P38571,P51798,P35610,Q13510,P51572,Q9NR77,P01889,P06280 15 |
| Increased bone mineral density 0.7368786998340239 3.044554017207433 0.0023302557958189 0.9999752834532568 0.1762332333062495 23 Q14739,Q15392,Q14108,P54802,Q15125,P04062 6 |
| Hepatosplenomegaly 0.6116621730223897 3.0436154964439224 0.0023375369393425 0.9999760902071316 0.1762332333062495 37 O75845,Q14739,P16278,P38571,P51798,Q9Y285,Q13510,P10619,P04062,P07686 10 |
| Increased susceptibility to fractures 0.5641696652908889 3.007770943941356 0.0026317141360359 0.9999937453034902 0.1762332333062495 49 Q14739,P52788,Q14108,Q96AY3,Q32P28,P51798,Q9H4A3,P04062,P48735,Q96L58 10 |
| Skeletal dysplasia 0.5955577935373342 2.9944146938177987 0.0027497193527017 0.999996347852868 0.1762332333062495 38 O95831,P51648,Q14739,P10619,P16278,Q96HY6,P21359,P40855,Q9UBN7,P36776,Q8WWQ0,O15160,P56589,O96011,Q13428,Q04721,Q96L58,Q9H1A4 18 |
| Progressive neurologic deterioration 0.7696904153193085 2.988947406850265 0.0027994031357925 0.9999970881910012 0.1762332333062495 19 P07602,P16278,P54802,P04062,P07686,P15289 6 |
| Abnormal systemic blood pressure 0.4707250346538974 2.9879045312349928 0.0028089728305742 0.9999972125177417 0.1762332333062495 88 P07602,P20700,O43772,P38571,O75844,P35610,Q13423,P42892,P04062,P01889,P07686,P15289,P06280 13 |
| Platyspondyly 0.6545972894084006 2.983308293745516 0.0028515060795479 0.9999977039478978 0.1762332333062495 31 Q96HY6,Q14739,P16278,Q9UBN7,Q96AY3,Q32P28,Q6NUK1,P48735,Q96L58,P04066 10 |
| Corneal opacity 0.5716931307011143 2.9797112164673245 0.0028852024327645 0.999998030985612 0.1762332333062495 46 O75845,P16278,Q9UBM7,Q06136,P40855,O43505,O75844,Q13510,P56589,Q6NUK1,P10619,P04062,P04066,P06280 14 |
| Incoordination 0.5120565578739477 2.9755219349775075 0.0029249043182375 0.9999983570676352 0.1762332333062495 67 P07602,O75503,Q13510,O14773,Q9NR77,Q9Y619,P04062,P15289 8 |
| Hepatomegaly 0.4592687245751501 2.959496491051572 0.0030814221107768 0.9999991953496792 0.1762332333062495 159 P07602,P10253,Q14108,O43772,Q14376,P38571,P15586,P04066,Q14739,P16278,P40855,P54802,Q9BT22,O43676,P35610,P09601,Q13510,P56589,P05165,P07686,P61916,Q96HY6,P12955,O95342,O15118,Q13426,P19404,P04062,P33991,Q99496,O75845,P51798,O60762,Q9Y619 34 |
| Abnormality of corneal stroma 0.8582732946953789 2.9490499931623253 0.0031875240859733 0.9999995040648614 0.1762332333062495 11 P16278,O43505,Q13510,P10619,P04062 5 |
| Abnormality of the ribs 0.5294809677515118 2.9253175320258493 0.0034410490909149 0.999999844003495 0.1762332333062495 55 Q9UM00,Q14739,P16278,Q9UBM7,P54802,Q32P28,O75844,P15586,O60826,P51798,Q9Y619,Q96L58 12 |
| Ectopic calcification 0.5578591757399216 2.921310383996253 0.0034856237938794 0.9999998727125344 0.1762332333062495 48 Q14739,Q9UBM7,P40855,P38571,P53634,O75844,P56589,Q15125,P04062 9 |
| Abnormality of head blood vessel 0.7302907135246907 2.897671797292001 0.0037594377617617 0.9999999635154329 0.1762332333062495 21 P07602,P16278,P06865,Q13510,P10619 5 |
| Abnormal retinal artery morphology 0.7635390663627052 2.8858519551160513 0.0039035572980334 0.9999999811019764 0.1762332333062495 18 P07602,P16278,P06865,Q13510,P10619 5 |
| Rhizomelia 0.8434426372722987 2.8814158405662416 0.0039589294385316 0.9999999853229286 0.1762332333062495 11 Q15392,Q15125,Q14739,Q9UBM7 4 |
| Delusions 0.7862030113528605 2.875266229319191 0.0040368695489438 0.9999999897172236 0.1762332333062495 16 P04062,P07602,Q9BQE5 3 |
| Cherry red spot of the macula 0.958420975997085 2.861824302513167 0.0042121033455411 0.9999999953800572 0.1762332333062495 8 P07602,P16278,P06865,Q13510,P10619 5 |
| Disproportionate short stature 0.6920627521109052 2.841029337718681 0.0044968175325261 0.9999999987412428 0.1762332333062495 24 Q96HY6,Q14739,P16278,Q9UBM7,Q15392,Q7LGA3,Q9UBN7,Q32P28,Q15125 9 |
| Kyphosis 0.443720049917118 2.8028663501875695 0.0050650654167598 0.999999999906155 0.1785337399225364 144 Q9BTV4,Q14108,P55011,O75844,O60826,Q15125,Q5KU26,P04066,P51648,Q14739,P16278,Q9UBM7,Q9BT22,Q9NR77,Q96L58,P52788,Q6NW34,Q7LGA3,Q32P28,O75175,P04062,P50402,Q96AY3,Q9H0B6,P41227,Q9BZI7,P01889 27 |
| Vascular skin abnormality 0.4276988010053837 2.7931564742881765 0.0052196436485205 0.9999999999537 0.182567074383254 110 Q14108,Q99829,O75844,Q15125,P04066,P06280,P49257,Q14739,P16278,Q9UBM7,P10619,Q96L58,P12955,P98194,Q6NUK1,P04062,P51798,O60762,Q06136,P01889,Q9H1A4 21 |
| Loss of speech 0.7575500444983496 2.7895227930671744 0.0052785780763036 0.9999999999646338 0.1832190420836069 17 P61916,P07602,O15118,P50897 4 |
| Abnormal tissue metabolite concentration 0.8016937795129692 2.7848816323622136 0.0053547266539428 0.9999999999750304 0.1839232810861354 13 P07602,P40855,P06865,P07686,P15289,P06280 6 |
| Abnormality of the peripheral nervous system 0.4293047556592494 2.7680300729034624 0.0056396251476646 0.9999999999932128 0.1899509299735657 96 P07602,Q9UBM7,Q99720,Q9Y619,P20700,Q9NQZ5,P41227,Q9NSV4,Q9H4A3,P42892,Q15125,P04062,Q9NR77,P07686,P15289,P06280 16 |
| Aortic valve stenosis 0.8036685294906084 2.7442679618482053 0.0060646011674179 0.9999999999990282 0.1913431887609049 12 P04062,Q15125,O75844,P16278 4 |
| Limb ataxia 0.70250888259606 2.7400398543987796 0.0061431734686721 0.9999999999993217 0.1913431887609049 21 Q14108,O14773,Q8IV08,Q9NR77 4 |
| Cachexia 0.7219959470020864 2.7310423110828426 0.0063134365643664 0.9999999999996888 0.1913431887609049 19 P38571,P04062,P07602,Q99720 4 |
| Hypotension 0.6420330162270738 2.724342084346117 0.0064429733600765 0.999999999999828 0.1913431887609049 27 P07602,O43772,P35610,Q13423,P04062,P07686,P15289 7 |
| Abnormal femoral neck head morphology 0.5519176772485417 2.7192135472391494 0.0065437346409893 0.9999999999998916 0.1913431887609049 42 Q96HY6,Q14739,P16278,Q7LGA3,P55011,Q96AY3,O75844,Q9Y487,Q9Y619,Q96L58,P04066 11 |
| Abnormal diaphysis morphology 0.4923889866057636 2.7186172932682786 0.0065555408421169 0.9999999999998972 0.1913431887609049 61 Q96HY6,Q14739,Q99622,P16278,Q16851,P12955,Q6NW34,Q96AY3,Q32P28,P51798,Q9NR77,Q9Y619,Q96L58,Q9H1A4 14 |
| Abnormal tongue morphology 0.4887534341929566 2.713130517294187 0.0066650849432399 0.9999999999999376 0.1913431887609049 65 P10253,P16278,P20700,Q9UBM7,Q01433,O15460,O75844,O60826,Q6NUK1,P01889,P07686,P04066 12 |
| Hyperintensity of cerebral white matter on mri 0.7310523400986526 2.7130129946581887 0.0066674491922691 0.9999999999999384 0.1913431887609049 18 P07602,O75503,P10253,P20700,P15289 5 |
| Diarrhea 0.4817688598495028 2.711848833696352 0.006690909833513 0.9999999999999448 0.1913431887609049 71 O60934,O95342,P02786,P54802,P38571,P15586,P35610,O60762,Q13510,Q13423,P42892,P01889,P07686,P06280 14 |
| Abnormal form of the vertebral bodies 0.46599517531702 2.7056015274700314 0.0068180803133137 0.9999999999999692 0.1918755007954843 80 Q9UM00,Q14739,P16278,Q9UBM7,Q9Y619,Q96AY3,P54802,Q9UBN7,Q32P28,P51798,P15586,O60826,Q6NUK1,Q15125,P48735,Q96L58,P04066 17 |
| Abnormality of glycolipid metabolism 0.9427137416921634 2.6998071265405708 0.0069379684964179 0.999999999999982 0.1918755007954843 7 P06865,P07602,P07686,P06280 4 |
| Stillbirth 0.8470175208138909 2.6903864195360696 0.0071369324995198 0.9999999999999928 0.1918755007954843 10 O75844,Q14739 2 |
| Hypersplenism 0.938165469430205 2.6818491504070545 0.0073216466700667 0.9999999999999968 0.1918755007954843 7 Q14108,P38571,P07602 3 |
| Abnormal vascular physiology 0.5329981105574557 2.676779237225495 0.007433359544968 0.999999999999998 0.1918755007954843 47 Q14739,Q14108,O15460,O75844,P51798,Q6NUK1,P04062,P01889,P06280 9 |
| Bulbar signs 0.8432831594370646 2.67384453765381 0.0074987204551295 0.9999999999999988 0.1918755007954843 10 P04062,P07602,Q99720 3 |
| Generalized onset seizure 0.4279503324237687 2.668414282927603 0.0076210222042536 0.9999999999999992 0.1918755007954843 94 P07602,O75503,Q00577,O94979,Q14108,P55011,Q8WVX9,P16278,Q4G176,Q9H7D7,Q13510,Q969N2,P52788,P11166,P15311,P04062,Q96N66,Q9Y320,O60762,Q9BZI7,Q9Y619,Q01105 22 |
| Dementia 0.4934995762012817 2.6679089926022654 0.0076324929347373 0.9999999999999992 0.1918755007954843 57 P07602,P20700,Q14108,Q9Y4U1,Q9NQZ5,Q04446,O15118,P06865,Q9Y487,Q8WVX9,Q13510,O96008,P04062,P35637,O75165,P61916,P15289 17 |
| Coxa valga 0.7219684048750017 2.6640322930353935 0.0077210150296735 0.9999999999999996 0.1918755007954843 18 P16278,P55011,O75844,Q9Y619,P04066 5 |
| Osteoarthritis 0.8373417004158025 2.6474551168822957 0.0081100124597586 1.0 0.1965265797633685 10 Q14108,O75844,P04062,P51798 4 |
| Biliary tract abnormality 0.6400192392776661 2.6433416309859 0.0082092159002244 1.0 0.1965265797633685 26 Q14739,P07602,Q14108,P04062,P15289 5 |
| Dermatological manifestations of systemic disorders 0.4795168053206584 2.6368291257257206 0.0083684974339501 1.0 0.1965265797633685 67 Q14739,P12955,O95342,P40855,O43772,O15118,Q14376,P38571,O75844,P56589,P61916,P04066 12 |
| Arthritis 0.5435253376630178 2.630909667039864 0.0085156667306931 1.0 0.1965265797633685 41 Q14739,Q14108,O75844,P51798,Q13510,P04062,P06280 7 |
| Dysphagia 0.4250818687826665 2.6302641333173926 0.0085318550909572 1.0 0.1965265797633685 128 Q99496,Q14739,P07602,P20700,Q99720,Q14108,O15118,P15586,Q13510,Q9NR77,Q01105,P04062,P01889,P61916 14 |
| Nonimmune hydrops fetalis 0.6366251766852197 2.6215245487400405 0.0087537457647877 1.0 0.1965265797633685 26 P46777,Q14739,P61353,P18077,P61313,P42766,P61254,P62847,Q9BT22,P62244,P10619,P04062,P39019,Q07020 14 |
| Juvenile onset 0.5481372793918388 2.6207408124411895 0.0087738939282964 1.0 0.1965265797633685 38 P16278,P54802,O15118,P38571,Q13510,O14773,Q9NR77,P06280 8 |
| Action tremor 0.5053121958813711 2.617903523815922 0.0088471814580828 1.0 0.197019462665529 53 P07602,P20700,Q99720,Q14108,O14773,Q9NR77,P15289 7 |
| Arteriosclerosis 0.7448946511638568 2.609785151106765 0.0090599103529442 1.0 0.1972176993173901 15 P16278,P38571,O75844,Q13510,P61916 5 |
| Dysostosis multiplex 0.9611117085600692 2.608638690061149 0.0090903166785867 1.0 0.1972176993173901 6 P54802,P15586,P16278,P04066 4 |
| Avascular necrosis 0.6796226358760251 2.607939900059137 0.0091088945750683 1.0 0.1972176993173901 21 Q14108,P51798,O75844,Q9Y619,P04062 5 |
| Fever 0.4611008929450224 2.6056016794994163 0.0091713047590449 1.0 0.1972176993173901 78 P07602,Q14739,P38571,P35610,Q13510,P51572,Q9NR77,P01889,P06280 9 |
| Thickened skin 0.4071894532787025 2.599361219715337 0.0093397435303794 1.0 0.1972176993173901 99 Q9BTV4,O75844,Q15125,P04066,P06280,P51648,Q14739,P16278,P40855,P56589,P12955,Q9UBN7,Q9P265,P98194,P53634,P04062,P50402,Q06136,Q9H1A4 19 |
| Myoclonus 0.4461344247984915 2.5982977517303896 0.0093687216804823 1.0 0.1972176993173901 85 Q99496,P07602,O75503,P52788,Q14108,P50897,Q13510,O14773,P04062 9 |
| Ascites 0.6327758661450544 2.596715922900155 0.009411972894628 1.0 0.1972176993173901 26 Q14739,Q14108,O95342,O15118,P38571,Q13510,P61916 7 |
| Progressive gait ataxia 0.7817134132857928 2.593551401172799 0.0094990338829674 1.0 0.197349887351131 11 O14773,P07602 2 |
| Hemivertebrae 0.7719258581575704 2.5923068115992733 0.00953347080956 1.0 0.197349887351131 12 Q15125,O60826,Q9Y619 3 |
| Restrictive ventilatory defect 0.7792920870554749 2.582046459151515 0.0098216362092384 1.0 0.2011665758712044 11 P01889,P16278,Q9Y285 3 |
| Premature birth 0.5276616637978552 2.5798085613888873 0.0098855099687276 1.0 0.2015668781515895 45 Q9UBM7,O95342,P40855,O43676,O75844,P51798,P04062 7 |
| Enlarged thorax 0.7277986988997132 2.5754501275433035 0.0100109709316851 1.0 0.2032137715463048 16 Q32P28,O75844,Q14739,P04066 4 |
| Abnormal systemic arterial morphology 0.4237912011666771 2.569042353501608 0.0101979992651632 1.0 0.2060902340386556 135 P07602,P10253,P61353,Q92890,P42766,P55011,P62847,Q9Y296,P06865,P38571,O75844,Q9Y4A5,O95394,Q07020,Q99622,P16278,P18077,P21359,Q9UBM7,P61313,Q9H7D7,Q13510,P10619,P07686,P61916,Q96L58,P46777,Q7LGA3,Q6ZXV5,O15118,O15460,O75175,Q6NUK1,P04062,P39019,O75845,Q9UGU0,Q9Y4L1,P62244,P01889,P61254 41 |
| Contractures of the joints of the upper limbs 0.4715117623648665 2.5627354944533844 0.0103851132497634 1.0 0.208022510778301 68 Q9BTV4,Q9BZI7,P50402,Q15392,Q99720,Q7LGA3,Q96AY3,P41227,O75844,P42892,Q9Y619,P37268,Q96L58,Q9NR77 14 |
| Abnormal oral mucosa morphology 0.4780218569716222 2.5589227707225137 0.0104997064185483 1.0 0.2084810702407834 58 P49257,O75845,Q9UM00,Q14739,P16278,P20700,Q9UBM7,Q14108,Q15392,Q9Y4U1,P53634,P04062,P01889 13 |
| Abnormal biliary tract morphology 0.6542319549415 2.555878545149961 0.0105920082094428 1.0 0.2093322296849532 23 Q14739,P07602,Q14108,P04062,P15289 5 |
| Abnormality of epiphysis morphology 0.5087267197250674 2.547603809999083 0.0108465576407361 1.0 0.212409523371387 50 Q14739,P16278,Q9UBM7,Q9Y619,P40855,P51798,Q9H4A3,P56589,Q15125 9 |
| Disproportionate short limb short stature 0.6887419361104278 2.546388059020233 0.0108844114681181 1.0 0.212409523371387 19 Q14739,Q15392,Q9UBM7,Q7LGA3,Q9UBN7,Q32P28,Q15125 7 |
| Coarse facial features 0.4723058566218983 2.533013807868848 0.0113086498130672 1.0 0.2144570192173737 64 P16278,P54802,P15586,P10619,P04066,P06280 6 |
| Abnormal csf protein level 0.750011288040597 2.532678192126595 0.0113194819908004 1.0 0.2144570192173737 13 Q9NR77,P07602,P20700,P15289 4 |
| Glomerulopathy 0.7670848002981686 2.5237935327872845 0.0116096092038071 1.0 0.2181359216930213 11 Q14108,P01889,P06280 3 |
| Abnormal clavicle morphology 0.6836251878535153 2.517614786398919 0.011815246334468 1.0 0.2206334751440574 19 Q14739,Q9Y619,O75844,Q96AY3 4 |
| Abnormality of extrapyramidal motor function 0.4633433023661098 2.511537312415377 0.0120206577577521 1.0 0.2212871693299562 71 Q00577,P07602,Q99720,P06865,O75165,P12235,P16278,P35610,O96008,P07686,P11166,Q04446,Q96QK1,Q6DKK2,P04062,O14949,Q99496,Q9Y4U1,Q9H0B6,P35637 20 |
| Abnormal bone structure 0.4292435342843924 2.509753086505805 0.0120815605868274 1.0 0.2215115160818719 164 P07602,Q14108,O75844,Q9H4A3,Q15125,P06280,Q14739,P16278,Q9UBM7,P40855,P54802,Q13510,P56589,Q96L58,P52788,Q15392,P12955,Q9UBN7,Q32P28,P53634,Q9H490,Q6NUK1,P04062,P48735,Q96AY3,P51798,Q9Y619 27 |
| Cutaneous photosensitivity 0.6185339264180356 2.504322199418247 0.0122686251918167 1.0 0.2235833377861519 26 P12955,O60934,Q9UBM7,Q14108,Q13426,Q06136 6 |
| Hepatic failure 0.5188617413722529 2.5036227218047484 0.0122929039908814 1.0 0.2235833377861519 45 P40855,O43772,O15118,O15460,P38571,Q13510,P56589,Q9Y619,P04062,P01889 10 |
| Abnormality on pulmonary function testing 0.7014905503957531 2.49235858003596 0.0126897853400382 1.0 0.22897005532204 17 Q99496,P01889,P16278,Q9Y285 4 |
| Mortality aging 0.4054875756406942 2.488321434937379 0.012834767190573 1.0 0.2306706972946079 97 P07602,Q14739,P16278,O94979,O95342,P40855,Q9UBN7,Q9Y3C6,Q9BT22,P38571,O75844,O60826,P56589,Q6NUK1,P04062,P07686 16 |
| Hallucinations 0.519296481986961 2.485386355970881 0.0129410899105097 1.0 0.230882613444603 44 P07602,O75503,Q9Y4U1,Q9BQE5,P50897,Q9BZI7,P04062,O75165,P15289 9 |
| Gait ataxia 0.4646669096301814 2.478775309321295 0.0131834325715101 1.0 0.2332492914500252 67 P07602,Q14108,O15118,O14773,Q9NR77,P15289,Q8IV08 7 |
| Foam cells 0.9252814738996928 2.470493159355888 0.0134926899486724 1.0 0.2345879411417284 6 P16278,O15118,P38571,Q13510,P61916 5 |
| Progressive psychomotor deterioration 0.8385061917862684 2.4672206196336157 0.0136166433112383 1.0 0.2345879411417284 9 P07686,P07602,P16278 3 |
| Bowing of the legs 0.506271651686008 2.467126141283152 0.0136202367410196 1.0 0.2345879411417284 48 Q96HY6,Q99622,P16278,Q16851,P12955,Q6NW34,Q32P28,P51798,Q9NR77,Q9Y619,Q96L58,Q9H1A4 12 |
| Generalized myoclonic seizure 0.5522109519294729 2.462696384826525 0.0137896631920817 1.0 0.2366098057901725 35 P07602,P52788,P16278,Q96N66,Q13510,Q9Y619,P04062,Q01105 8 |
| Supranuclear gaze palsy 0.6617973377484946 2.4604444335131745 0.0138765058235021 1.0 0.2367058173633129 20 O15118,P07602,P61916,Q99720 4 |
| Psychomotor deterioration 0.8595194991519544 2.458315533122391 0.0139590468554386 1.0 0.2368350225808946 8 P06865,P07602 2 |
| Developmental regression 0.4076901445660453 2.45294593180969 0.0141691634280778 1.0 0.239506268057509 118 P07602,O75503,P16278,Q16851,P40855,Q05682,Q13510,O14773,P01889,P07686,P15289,P06280 12 |
| Postural tremor 0.6826810451501818 2.4488471915186185 0.0143314234518576 1.0 0.2408724511753013 18 Q14108,O14773,Q9NR77 3 |
| Abnormality of skull ossification 0.7234373150276532 2.4482315968834487 0.0143559345213342 1.0 0.2408724511753013 14 Q14739,Q9UBN7,P54802,Q32P28,O75844 5 |
| Generalized onset motor seizure 0.5086176195757343 2.437150183906487 0.0148035296727102 1.0 0.2442301538307852 46 Q969N2,Q00577,P07602,P16278,P52788,Q96N66,Q9Y320,Q4G176,O60762,Q13510,Q9Y619,P04062,Q01105 13 |
| Abnormal epiphyseal ossification 0.7211205142334117 2.4364080145432117 0.0148339417570617 1.0 0.2442301538307852 14 Q96HY6,Q14739,Q9UBM7,P40855,P56589,Q15125,Q96L58 7 |
| Horizontal nystagmus 0.6338045287567307 2.4307130221286624 0.0150691448684932 1.0 0.2442301538307852 23 O14773,Q9H061,P04062,P07602 4 |
| Emg neuropathic changes 0.6164913522411816 2.430461989192702 0.0150795876920173 1.0 0.2442301538307852 25 O14773,Q9NR77,P07602,Q13510 4 |
| Periventricular white matter hyperintensities 0.8297776504515214 2.429536774891264 0.0151181311241133 1.0 0.2442301538307852 9 P07602,O75503,P15289 3 |
| Abnormal lower limb bone morphology 0.4221164246113849 2.4288478146060073 0.0151468888014694 1.0 0.2442301538307852 158 P07602,P55011,O75844,Q9H4A3,Q15125,P04066,P06280,Q14739,Q99622,P16278,Q9UBM7,Q9H7D7,Q13510,Q96L58,Q96HY6,Q15392,Q6NW34,Q9UBN7,O43505,Q32P28,O75175,P04062,Q99496,O75845,Q96AY3,P51798,Q10471,Q9Y619,Q9H1A4 29 |
| Abnormal femoral neck morphology 0.5610712631597948 2.422448657326582 0.0154163040551629 1.0 0.2476366696289105 33 P16278,P55011,Q96AY3,O75844,Q9Y619,P04066 6 |
| Abnormality of the gingiva 0.5141905154570598 2.421253657379588 0.0154670803111085 1.0 0.2476366696289105 43 P49257,O75845,Q9UM00,Q14739,P16278,P20700,Q9UBM7,Q14108,Q15392,P53634,P04062 11 |
| Osteopenia 0.4581650492412015 2.4189582560240996 0.0155650263087741 1.0 0.2483304372841959 68 P07602,Q14108,Q32P28,O75844,Q9H490,P04062 6 |
| Orthostatic hypotension due to autonomic dysfunction 0.7841990166379403 2.4074934960721226 0.0160624483075553 1.0 0.2553704631274617 10 P04062,P07602,P20700,P15289 4 |
| Opisthotonus 0.5936216997609183 2.403558806189672 0.0162363553731659 1.0 0.2556746612671261 27 P11117,P07602,Q99720 3 |
| Abnormal autonomic nervous system physiology 0.571230137975298 2.4024706366604622 0.0162847418920655 1.0 0.2556746612671261 31 P07602,P42892,P04062,P07686,P15289,P06280 6 |
| Urinary glycosaminoglycan excretion 0.9791896213649508 2.4019822604661702 0.0163064991791217 1.0 0.2556746612671261 5 P15586,P16278,P04066 3 |
| Aplasia hypoplasia involving the vertebral column 0.7221914365268903 2.393642130647394 0.0166820165800873 1.0 0.2601430273970069 13 Q96HY6,Q14739,P16278,P36776,Q6NUQ1,Q04721,P39019,P04066 8 |
| Abnormality of the autonomic nervous system 0.4779724226821567 2.393117105231351 0.0167059080712395 1.0 0.2601430273970069 54 P07602,Q9UBM7,P42892,P04062,P07686,P15289,P06280 7 |
| Abnormality of adrenal physiology 0.5695961801677418 2.3907129280973303 0.0168156952811446 1.0 0.2609589298408357 31 Q99496,P40855,P38571,Q13423,Q9H4A3,P56589,O96011,P33991 8 |
| Abnormal macrophage morphology 0.9747612551159636 2.3855308803756863 0.0170544905012772 1.0 0.2637645180588699 5 P38571,P16278,P61916,Q13510 4 |
| Motor seizure 0.4059958169755339 2.3769736654755196 0.0174553342740511 1.0 0.2680612516998912 94 P07602,O75503,Q00577,P55011,Q8WVX9,P16278,Q4G176,Q13510,P07686,Q969N2,P52788,P11166,P13073,P04062,Q96N66,Q9Y320,Q9Y4U1,Q9Y3C6,O60762,Q9Y619,Q01105 21 |
| Aplasia hypoplasia involving bones of the thorax 0.5675318466670095 2.3758375583271674 0.0175091690685875 1.0 0.2680612516998912 31 Q96HY6,Q14739,Q9UBN7,P41227,O75844,O60826,Q9Y619,Q96L58 8 |
| Increased cerebral lipofuscin 0.9705280854992496 2.3697754602344134 0.0177988910015056 1.0 0.2688756059263995 5 P07602,O75503,P50897 3 |
| Epiphyseal stippling 0.7348878244678252 2.3681324429282955 0.0178781346611422 1.0 0.2691784049808411 11 P40855,Q15125,Q14739,Q9UBM7 4 |
| Adrenal insufficiency 0.5970060690473108 2.362843017919256 0.0181353497684417 1.0 0.2700409806105138 26 Q99496,P40855,P38571,Q13423,P56589,O96011,P33991 7 |
| Macular degeneration 0.7242358410408545 2.358548037595063 0.0183465850790167 1.0 0.2700409806105138 12 P04062,P04439,P50897,Q13510 4 |
| Abnormality of the gallbladder 0.5079379458675111 2.3493855040512175 0.0188044264443989 1.0 0.2732920507872711 42 P07602,Q9UBM7,O95342,P40855,P04062,P04066,P15289 7 |
| Flat face 0.6426852858281542 2.348704217369432 0.0188388653204922 1.0 0.2732920507872711 20 Q9UM00,P40855,P36776,Q9Y487,P56589,O96011,Q15125,Q96L58 8 |
| Increased ldl cholesterol concentration 0.8104927603023515 2.345658073417076 0.018993522746775 1.0 0.2732920507872711 9 Q8N511,P50402,P38571 3 |
| Hyperlipoproteinemia 0.8104927603023515 2.345658073417076 0.018993522746775 1.0 0.2732920507872711 9 Q8N511,P50402,P38571 3 |
| Respiratory tract infection 0.4105616147534763 2.3442556076029843 0.0190651005479363 1.0 0.2732920507872711 141 P07602,P10253,Q00577,P20700,Q9Y487,P15586,O60826,Q8N1F7,P26038,P04066,P16278,Q16851,P02786,P54802,P09601,Q13510,P12955,O60934,Q6NW34,O15460,P53634,Q6NUK1,P04062,P33991,Q9Y5K6,P51798,P52565,P01889,P50851 29 |
| Abnormal enchondral ossification 0.6097133892207689 2.3315821524655025 0.019722683637237 1.0 0.2782197608038568 24 Q96HY6,Q14739,Q9UBM7,Q9Y619,P40855,P56589,Q15125,Q96L58 8 |
| Thoracic hypoplasia 0.5721513830294018 2.327218012092669 0.0199536648323219 1.0 0.2791671199771323 29 Q9UM00,Q14739,Q96HY6,Q6NW34,P41227,P51798,Q9BZI7,P04062 8 |
| Abnormal corneal epithelium morphology 0.6600510680364391 2.3223992925348025 0.0202114454215776 1.0 0.2803451495094133 18 O75844,Q14739,P01889 3 |
| Abnormality of the knee 0.4236006856174287 2.3221877143810117 0.0202228302263223 1.0 0.2803451495094133 85 Q9H4A3,Q15125,Q99622,P16278,Q16851,Q13510,Q9NR77,Q96L58,Q96HY6,P12955,Q6NW34,Q7LGA3,Q6ZXV5,P37268,Q96AY3,Q15041,P51798,O60762,Q9Y619,Q9H1A4 20 |
| Polyhydramnios 0.4841009793368889 2.3201462914396913 0.0203329648694268 1.0 0.2808359632188692 50 Q9UM00,Q14739,Q9UBM7,O75844,P51798,Q15125,P04062 7 |
| Thin ribs 0.7155734497841639 2.315375362624491 0.0205923986406659 1.0 0.2828810773991184 12 Q32P28,Q9UBN7,Q9Y619,O75844 4 |
| Ectrodactyly 0.6968084920860104 2.3113276561871947 0.0208147635354889 1.0 0.2837031962715049 14 Q9UBM7,Q99720 2 |
| Difficulty walking 0.4457241035527082 2.304718194925604 0.0211823611998984 1.0 0.2843669430268951 70 Q99496,P07602,Q99720,Q13510,O14773,Q9NR77,P15289 7 |
| Abnormality of the calf 0.4612919437254614 2.304387905600176 0.0212008783123196 1.0 0.2843669430268951 56 Q96HY6,Q99622,P16278,Q16851,P12955,Q6NW34,Q32P28,P51798,Q9NR77,Q9Y619,Q96L58,Q9H1A4 12 |
| Recurrent otitis media 0.6205969192891369 2.30126023445725 0.0213769260183489 1.0 0.2858849488395079 22 Q99496,Q14739,Q9UBM7,Q9H7D7,P41227,Q9H1A4 6 |
| Mucosal telangiectasiae 0.7991665631363164 2.2959961321498903 0.0216761025299243 1.0 0.2890358891600177 9 Q14739,P06280 2 |
| Abnormal lymphocyte morphology 0.5550335812904231 2.2852823983083854 0.0222962743517269 1.0 0.2948824806972607 31 P50851,P16278,O60934,Q96BN8,Q13426,P26038,P33991,P04066 8 |
| Hydrocephalus 0.4437506560861385 2.2828322877726515 0.0224402492761004 1.0 0.2948824806972607 70 Q99496,Q9UBM7,Q15392,P40855,Q9UBN7,O43505,P51798,O60826,Q9H490,Q6NUK1,Q15125,P04062,Q96L58 13 |
| Abnormality of alkaline phosphatase level 0.624595726049466 2.2818185366927195 0.0225000559258523 1.0 0.2948824806972607 21 Q8N511,Q14739,O95342,Q96AY3,P38571,P51798 6 |
| Beaking of vertebral bodies 0.7953880238023797 2.279362540217246 0.0226455231729434 1.0 0.2948824806972607 9 Q9UM00,P16278,Q6NW34,Q6NUQ1,Q96L58,P04066 6 |
| Cyanosis 0.6522347149952038 2.2782972635879903 0.022708872594443 1.0 0.2948824806972607 18 O75844,O43772 2 |
| Urinary incontinence 0.5030357981348345 2.2764301090537034 0.0228202792964302 1.0 0.2948824806972607 40 Q99496,P07602,O96011,P11166,Q99720,Q04446,Q9NZJ4,Q8WVX9,P35637,Q10471,Q9BZI7,P07686,P15289,P50570 14 |
| Anorexia 0.5641296128798847 2.27079162487373 0.0231595951954992 1.0 0.2948824806972607 29 Q14108,Q13423,P35610,P04062,P01889,P06280 6 |
| Abnormal lactate dehydrogenase level 0.6794556986444908 2.2693807325930537 0.0232451828430824 1.0 0.2948824806972607 15 P38571,P10253,O43505 3 |
| Abnormal morphology of the conjunctival vasculature 0.8136711965465983 2.2641966693526387 0.023562021352802 1.0 0.2948824806972607 8 P04066,P06280 2 |
| Abnormality of lipoprotein cholesterol concentration 0.696168381520313 2.2614749192904107 0.0237298640745384 1.0 0.2948824806972607 13 Q9BTV4,Q8N511,P50402,P38571,Q10471 5 |
| Hypohidrosis 0.7120471821324313 2.255917197492389 0.0240758172859938 1.0 0.2960447336890331 11 P07686,P06280 2 |
| Abnormal pharynx morphology 0.5448384942765634 2.254176209139074 0.0241850848506917 1.0 0.2960447336890331 32 P16278,O60934,P54802,P15586,Q13510,P01889 6 |
| Lymphedema 0.6857203285553003 2.2536700850533773 0.0242169306595154 1.0 0.2960447336890331 14 P06280 1 |
| Abnormal cornea morphology 0.4038861538078414 2.2528868361031407 0.0242662850846722 1.0 0.2960447336890331 140 Q92890,P55011,Q9Y296,O75844,Q9H4A3,Q15125,O43837,P04066,P06280,P51648,Q14739,P12235,P16278,Q9UBM7,P40855,Q9ULH0,Q13510,P56589,P10619,Q96L58,Q969N2,Q7LGA3,Q07021,O43505,O75175,P10412,Q6NUK1,P04062,Q99496,O75845,O96011,P41227,Q06136,Q10471,P01889 35 |
| Abnormality of pulmonary circulation 0.5657099443617366 2.2462021504968255 0.0246910625634322 1.0 0.2960447336890331 28 Q14108,O75844,P51798,Q6NUK1,P04062,P01889 6 |
| Proptosis 0.475873132436724 2.243077953548167 0.0248917880750441 1.0 0.2960447336890331 50 Q99496,P52788,Q9UBM7,P12955,Q32P28,O75844,Q6NUK1,Q5KU26,Q96L58 9 |
| Impairment of activities of daily living 0.469517973089303 2.2428363297159724 0.0249073707916773 1.0 0.2960447336890331 52 Q99496,P07602,O96011,P20700,Q99720,Q92890,P11166,Q04446,Q4G176,Q9NZJ4,Q8WVX9,P35637,Q10471,Q9BZI7,P07686,P15289,P50570 17 |
| Pulmonary hypoplasia 0.5789438415950228 2.2424465020745488 0.0249325292236861 1.0 0.2960447336890331 26 Q14739,Q9UBM7,O75844,Q6NUK1,Q96L58 5 |
| Abnormality of the fontanelles or cranial sutures 0.3848156337820388 2.241895663071588 0.0249681164119313 1.0 0.2960447336890331 98 Q00577,Q92890,O75844,O60826,Q9H4A3,Q15125,Q9UM00,P40855,Q9BT22,P56589,Q96L58,Q6NW34,Q32P28,Q6NUK1,P39019,O75845,Q96AY3,P41227,P51798,O96011,Q9Y619 21 |
| Mesomelia 0.9350391021618808 2.236567712841625 0.0253146071159511 1.0 0.2974302805070536 5 Q14739 1 |
| Death in infancy 0.4617360896519767 2.233991482126985 0.025483633523335 1.0 0.298433729311067 54 P07602,P16278,P40855,Q9UBN7,Q9BT22,Q9Y3C6,P38571,O60826,P56589,Q6NUK1,P04062 11 |
| Aplasia hypoplasia of the ribs 0.6337121872129325 2.231820844707056 0.0256268060821605 1.0 0.298433729311067 19 Q96HY6,Q14739,Q9UBN7,O60826,Q9Y619,Q96L58 6 |
| Pulmonary infiltrates 0.8270961570218565 2.230437681453232 0.0257184003267874 1.0 0.298433729311067 7 P04062,Q13510 2 |
| Diffuse cerebral atrophy 0.671746358636542 2.2283735067843047 0.0258556182647762 1.0 0.298433729311067 15 P07602 1 |
| Depressed nasal bridge 0.4078336138765311 2.2274675736304954 0.0259160406309817 1.0 0.298433729311067 156 Q00577,P61353,P42766,P55011,P62847,Q8WWQ0,Q9Y296,Q9Y3B2,P15586,O60826,Q9Y4A5,Q8WVX9,Q07020,Q14739,P16278,P18077,P21359,Q9UBM7,Q16851,P31150,P40855,P36776,P61313,Q9H7D7,P56589,Q96L58,Q969N2,P46777,P12955,Q15392,O60934,Q6NW34,Q7LGA3,Q13045,O75175,Q4J6C6,Q9H490,Q6NUK1,P04062,P37268,P39019,Q99496,Q9UGU0,P62244,P41227,O60762,O96011,Q9BZI7,P61254 49 |
| Frequent falls 0.4986624898592995 2.226350554987801 0.025990709656297 1.0 0.298433729311067 39 Q9NR77,P04062,P07602,Q13510 4 |
| Elevated pulmonary artery pressure 0.591849517272924 2.2171444766398194 0.0266132203270685 1.0 0.3040460121285951 24 Q14108,O75844,P51798,Q6NUK1,P04062,P01889 6 |
| Aplasia hypoplasia of the lungs 0.5390238642128802 2.2108860443492304 0.0270437293264933 1.0 0.3068107528469255 32 Q14739,Q9UBM7,O75844,Q6NUK1,Q96L58 5 |
| Cholestasis 0.4372691064264412 2.210685187015919 0.02705764501685 1.0 0.3068107528469255 70 O75845,Q14739,P12955,Q9UBM7,O95342,P40855,O15118,Q14376,P38571,Q13510,P56589,P61916 12 |
| Decerebrate rigidity 0.9263851862007664 2.2037823121824216 0.0275396570931172 1.0 0.308024536730367 5 P07602,P16278 2 |
| Peripheral demyelination 0.6487117844394382 2.202764705289036 0.0276113370167472 1.0 0.308024536730367 17 P07602,P20700,Q9Y4U1,Q9NR77,P15289 5 |
| Postaxial polydactyly 0.6482508733384802 2.2001933791524824 0.0277931778517683 1.0 0.308024536730367 17 Q15125,Q9UM00,Q14739,Q9UBM7 4 |
| Joint contracture of the hand 0.4865742768735686 2.19950389772515 0.0278421122929801 1.0 0.308024536730367 44 Q9BZI7,Q15392,O75844,P42892,Q9NR77 5 |
| Abnormality of visual evoked potentials 0.6026581043567305 2.1904784114338502 0.028489558806882 1.0 0.3144223880944001 22 P07602,O75503,P15289 3 |
| Abnormal visual fixation 0.7962776272086757 2.1893612791039474 0.0285705916579717 1.0 0.3145532209898241 8 P04062,Q5KU26,Q13510 3 |
| Somatic sensory dysfunction 0.379215090805524 2.185930228633735 0.0288207102778639 1.0 0.3163125746583887 101 P07602,P20700,P54802,Q9H0B6,Q8IV08,O14773,Q9NR77,Q9Y619,P01889,P07686,P06280 11 |
| Ovoid vertebral bodies 0.816262705326478 2.1850655094288323 0.0288840436966575 1.0 0.3163125746583887 7 P54802,P15586,P16278 3 |
| Skin ulcer 0.5701458223978668 2.183244431625599 0.0290178143117052 1.0 0.3163125746583887 26 Q14739,P12955,Q04446,O15460,P01889,Q9H4A3,O95394,P04062,P48735 9 |
| Fat malabsorption 0.7736219744601833 2.182904172908417 0.0290428676785141 1.0 0.3163125746583887 9 P38571,Q14739 2 |
| Abnormality of the tarsal bones 0.5783328152387174 2.181698634459414 0.0291317817806104 1.0 0.3163125746583887 25 Q15125,O75844 2 |
| Exaggerated startle response 0.7915865874415303 2.169065991502532 0.0300776741745141 1.0 0.3240833755249188 8 P06865,P07686,Q9H0B6,P16278 4 |
| Joint stiffness 0.4514353631005015 2.1672155750584716 0.0302184203289814 1.0 0.3243575493904481 55 Q9BTV4,P50402,P16278,Q96AY3,P54802,O15460,P01889,O75844,P15586,P48735 10 |
| Hammertoe 0.6414741098172754 2.162302981077378 0.0305948301032192 1.0 0.3265603109843617 17 Q9UBM7,Q99720 2 |
| Abnormal peripheral nervous system physiology 0.4699353420158322 2.1601228549540736 0.0307631601716005 1.0 0.326709776000304 49 P07602,P20700,Q99720,Q9Y619,Q9NQZ5,Q9NSV4,Q9H4A3,Q9NR77,Q15125,P15289 10 |
| Congenital ichthyosiform erythroderma 0.8467268180294227 2.1593323983500667 0.0308243883668639 1.0 0.326709776000304 6 Q15125 1 |
| Toxemia of pregnancy 0.8093176213927928 2.1558526448465267 0.0310951731872666 1.0 0.3272645757315027 7 Q14739,O43772 2 |
| Abnormality of the upper respiratory tract 0.3967118162232287 2.1504686246454043 0.0315181652027625 1.0 0.3302145096243344 91 Q14739,P07602,P16278,Q9UBM7,O60934,P54802,Q15165,P15586,Q13510,P01889,P04066 11 |
| Dysdiadochokinesis 0.6546199832223455 2.13659402549877 0.0326310259819109 1.0 0.3340922396684587 15 Q13426,O75027,O75503,P20700 4 |
| Abnormal liver physiology 0.840984847903298 2.1361404127655117 0.0326679706026264 1.0 0.3340922396684587 6 O95342,Q13510 2 |
| Neuronal loss in central nervous system 0.6716935746752581 2.1353050851561117 0.0327360978277744 1.0 0.3340922396684587 13 P07602,O15118 2 |
| Abnormal retinal vascular morphology 0.4769918155850252 2.1333358170038332 0.0328971880483526 1.0 0.3346387339057256 45 P07602,P16278,P06865,Q13510,P10619,P07686 6 |
| Vertebral hypoplasia 0.7245601850346562 2.129653409106002 0.0332002381500053 1.0 0.3369675956876662 10 Q96HY6,Q14739,P16278,Q6NUQ1,P39019 5 |
| Abnormal ldl cholesterol concentration 0.6781240405059127 2.1261974463763753 0.0334868226511864 1.0 0.3391193376279389 12 Q9BTV4,Q8N511,P50402,P38571 4 |
| Elevated hepatic transaminase 0.3870704282133704 2.120727355346752 0.0339447530822081 1.0 0.3429928716995563 94 O75845,Q8N511,Q14739,P10253,P12955,O95342,P40855,O43772,P38571,Q9Y285,Q13510,Q9Y619,P01889 13 |
| Abnormality of hepatobiliary system physiology 0.4279426470784782 2.117101960984432 0.034251195309287 1.0 0.3453219181182438 71 Q8N511,P40855,O43772,O15118,O15460,P38571,Q13510,P56589,Q9Y619,P04062,P01889 11 |
| Cholecystitis 0.6828904215333917 2.110509509468356 0.0348144929448028 1.0 0.3465692138512457 11 O95342,P07602 2 |
| Thick lower lip vermilion 0.4744338556470662 2.110303459547796 0.0348322258038309 1.0 0.3465692138512457 45 P52788,P15586,Q9BZI7,P04066,P06280 5 |
| Keratoconjunctivitis 0.6818914875915612 2.105484971949167 0.0352491141152271 1.0 0.3491889365619559 11 Q14739 1 |
| Gingival overgrowth 0.5665706271806596 2.1036863090363616 0.0354058195125079 1.0 0.3499788289638561 25 Q9UM00,Q14739,P16278,Q9UBM7,P20700 5 |
| Narrow forehead 0.4542179700350353 2.09468908329499 0.0361986403003014 1.0 0.35426390302206 52 Q969N2,O75845,Q9UM00,Q00577,P20700,Q5SRE5,Q9UBM7,P55011,Q16851,Q7LGA3,Q01433,Q9Y296,P41227,Q9H490 14 |
| Dental crowding 0.5436685354834598 2.0915175614037724 0.0364816938634759 1.0 0.35426390302206 28 P52788,Q9UBM7,P41227,Q9ULH0,O75844,Q9BZI7,Q01105 7 |
| Abnormal placenta morphology 0.7733935959677021 2.089906830315946 0.0366261699085168 1.0 0.35426390302206 8 O75844 1 |
| Neck muscle weakness 0.6284593617643119 2.089093980677452 0.0366992641007275 1.0 0.35426390302206 17 P07602 1 |
| Corpus callosum atrophy 0.6538258536736973 2.085692416002385 0.0370064938654508 1.0 0.35426390302206 14 P51572,O75503 2 |
| Abnormal periventricular white matter morphology 0.4820763692377207 2.085534695698899 0.0370207921551959 1.0 0.35426390302206 39 P07602,O75503,Q01433,P15289 4 |
| Missing ribs 0.7149344248499672 2.083959863577898 0.0371638182849181 1.0 0.35426390302206 10 Q9UBN7,Q14739,O60826,Q96L58 4 |
| Cardiomegaly 0.5028150957180153 2.0756432791540766 0.0379269555116668 1.0 0.3592788889823937 35 Q14739,P13473,P54802,P04062,P07686,P04066 6 |
| Entropion 0.7116707315800985 2.068413926894148 0.0386011167266189 1.0 0.3644683467123939 10 O75844 1 |
| Abnormal auditory evoked potentials 0.74747663028543 2.065597901825951 0.0388664627234915 1.0 0.3644683467123939 9 Q15125,P07602,P20700 3 |
| Raynaud phenomenon 0.8223156514394696 2.060317828068056 0.0393681666706424 1.0 0.3675709524669636 6 O75844 1 |
| Ascending tubular aorta aneurysm 0.8876455612422456 2.055578352214107 0.0398231761869287 1.0 0.3696124943232433 5 O75844,P01889 2 |
| Pleural effusion 0.6639854790738026 2.0537117236902107 0.0400036011822972 1.0 0.3696124943232433 12 Q99496,Q14739 2 |
| Macroglossia 0.5235788935089862 2.0536635966313836 0.0400082622135262 1.0 0.3696124943232433 31 P07686,P16278,P04066,Q01433 4 |
| Aspiration pneumonia 0.5871714578341496 2.0531051479600135 0.0400623808013103 1.0 0.3696124943232433 21 P16278,P20700,Q13510,Q6NUK1,P04062 5 |
| Reduced subcutaneous adipose tissue 0.7634521382850252 2.046350678606408 0.0407218809284786 1.0 0.3712062608666028 8 Q6NUK1,O75844 2 |
| Hyperlipidemia 0.5225961780682946 2.0463430381434735 0.0407226321153033 1.0 0.3712062608666028 31 Q9BTV4,P49257,Q969N2,P50402,P38571,Q13426,O75844,Q9Y285,P06280 9 |
| Premature loss of teeth 0.6546141085511344 2.0461951668546674 0.0407371726792247 1.0 0.3712062608666028 13 Q969N2,Q15436,P53634,P51798,O75844,P61011,Q04721 7 |
| Impotence 0.7814134947834132 2.037496066733499 0.0416003556997892 1.0 0.3774419627850019 7 Q99496,P07686,Q9NZJ4,P20700 4 |
| Erectile dysfunction 0.7814134947834132 2.037496066733499 0.0416003556997892 1.0 0.3774419627850019 7 Q99496,P07686,Q9NZJ4,P20700 4 |
| Retinal degeneration 0.4540782792886329 2.03640833287325 0.041709369387995 1.0 0.3774419627850019 50 P51648,P04439,O75503,Q9Y4U1,P55011,O75175,P50897,Q13510,O14773,P04062 10 |
| Keratitis 0.652664514437531 2.0359683711117382 0.0417535314011119 1.0 0.3774419627850019 13 Q14739 1 |
| Paresthesia 0.5637233547661074 2.0341411199245067 0.0419373690837787 1.0 0.3783516214760755 24 Q9NR77,P54802,P01889,P06280 4 |
| Abnormal head movements 0.666890633573654 2.029694595281076 0.0423875926286629 1.0 0.3798425164550659 11 Q969N2,P20700,Q99720,P41227,P35637 5 |
| Eeg with spike wave complexes 0.6513775480916346 2.029211319397776 0.0424367711368316 1.0 0.3798425164550659 13 Q969N2,Q14108,Q9NQZ5,O75503 4 |
| Inflammatory abnormality of the eye 0.4950050859916 2.0131123565102813 0.0441028105953369 1.0 0.3916708589394474 35 Q99496,P02786,Q14739,P01889 4 |
| Abnormality of skin adnexa physiology 0.4686564175981666 2.007584631966973 0.0446874489859214 1.0 0.3956992094777463 42 P20700,Q9H0B6,Q9H4A3,P01889,P07686,P04066,P06280 7 |
| Abnormality of fontanelles 0.4630424546711223 2.0071803958351975 0.0447304582519378 1.0 0.3956992094777463 45 Q6NW34,Q9Y619,P40855,Q9BT22,Q32P28,O75844,P56589,O96011,Q6NUK1,Q15125 10 |
| Abnormal arterial physiology 0.543919972398849 2.0046339392972254 0.0450021955437582 1.0 0.396529093118684 26 Q14739,O75844,P01889,P06280 4 |
| Calcinosis 0.8737456495417668 2.001837881732015 0.045302170281561 1.0 0.396529093118684 5 O75844,Q14739 2 |
| Intestinal malrotation 0.5347413852618687 1.997946023464756 0.0457225122773321 1.0 0.3990408125240485 27 P55011,Q14739,Q9UBM7,Q15392 4 |
| Primary adrenal insufficiency 0.6603837485237992 1.996623684118026 0.0458660780320021 1.0 0.3995269287576892 11 Q99496,P40855,Q13423,P56589 4 |
| Abnormality of the bladder 0.3726520287538364 1.9875718313712705 0.0468590642477482 1.0 0.4048829906795547 113 P07602,P20700,Q99720,Q92890,Q9NZJ4,Q9Y4A5,Q8WVX9,O75165,Q6UVJ0,P12235,Q86XL3,P56589,Q9NR77,P07686,P50570,O60934,P11166,Q04446,Q96QK1,P04062,P15289,Q99496,Q10471,P35637,O96011,Q9BZI7,P01889 27 |
| Respiratory arrest 0.7497364208206047 1.9859138378740897 0.0470428919380423 1.0 0.4051212682618911 8 P13473,O43772 2 |
| Bone pain 0.5751486214292527 1.978460942812646 0.0478767305192253 1.0 0.4099726811128394 21 Q14108,P51798,P04062,P07602 4 |
| Pathologic fracture 0.6250517598220531 1.9759520444730925 0.0481602088479566 1.0 0.4109683574605635 15 Q14108,P04062,Q96L58 3 |
| Abnormal abdomen morphology 0.4003749170948678 1.9758323295295055 0.0481737705138509 1.0 0.4109683574605635 207 P07602,P10253,Q14108,O43772,Q14376,P38571,P15586,P04066,Q14739,P16278,P40855,P54802,O43676,P35610,P09601,Q13510,P56589,P10619,P07686,P61916,Q15392,O95342,O15118,P04062,Q99496,P51798,Q9Y285,Q9Y619,P01889 29 |
| Abnormal large intestine physiology 0.5900747853839002 1.9743778565783987 0.048338793986099 1.0 0.4116039255707725 19 P07602,P15289,P06280 3 |
| Anarthria 0.8006544619023561 1.9715531748490465 0.0486606370736275 1.0 0.4116806007671325 6 P35637,Q99720 2 |
| Abnormality of the ankles 0.4897849342979176 1.9711217234181169 0.0487099545222602 1.0 0.4116806007671325 35 O75844,Q96AY3,P07602,Q9H4A3 4 |
| Abdominal distention 0.5539475850953505 1.9697417472177965 0.0488679758162708 1.0 0.4122498813294689 24 P38571,P04062,P07602 3 |
| Metatarsus adductus 0.639625707834707 1.967285402953545 0.0491503169332736 1.0 0.4131659447499669 13 Q15392,Q96L58,Q9UBM7 3 |
| Rigidity 0.4435417276563013 1.9617897024953497 0.0497869730606392 1.0 0.4156067280452296 51 P04062,P07602,P16278,Q15392 4 |
| Hip subluxation 0.7438199808209447 1.959721470667066 0.0500283542183008 1.0 0.4156067280452296 8 Q96L58,Q9UBM7 2 |
| Low anterior hairline 0.4373632231417808 1.9592072789547803 0.0500885170373401 1.0 0.4156067280452296 53 P61353,P42766,P62847,Q13428,Q07020,Q9UM00,P18077,P61313,P62081,P46777,P12955,O60934,Q9UQE7,Q13426,Q6NUK1,P39019,O15160,P62244,Q04721,P61254 20 |
| Abnormal thrombocyte morphology 0.3721327727355373 1.955637233187543 0.0505079035257156 1.0 0.4180350454457615 116 P07602,P61353,P61254,Q92890,Q14108,P42766,P62847,P38571,Q07020,O75533,Q14739,P18077,P61313,P02786,P35610,Q13510,P05165,P46777,P12955,O60934,O15460,P04062,P39019,O75845,Q9Y4L1,Q9Y4U1,Q9Y3C6,P51798,P12814,P62244,P01889,P50851 32 |
| Increased circulating lactate dehydrogenase concentration 0.6444948447558408 1.9528467915116672 0.0508377521416476 1.0 0.4190408080624268 12 P38571,P10253 2 |
| Macrogyria 0.8595979422450821 1.9468407670136163 0.0515538277819942 1.0 0.4222213463875775 5 Q15392 1 |
| Aplasia hypoplasia of the patella 0.8591443596702195 1.945072617055594 0.0517662390511437 1.0 0.4222628818450109 5 Q96AY3,Q9Y619 2 |
| Prenatal maternal abnormality 0.6274879574249823 1.9446312715821823 0.0518193727885454 1.0 0.4222628818450109 14 Q14739,O43772 2 |
| Abnormality of upper limb joint 0.3666459388190864 1.942188163935059 0.0521143254300551 1.0 0.4236528734189988 108 Q9BZI7,P50402,Q9H1A4,P16278,Q15392,Q9Y619,Q96AY3,P41227,Q9ULH0,O75844,Q13510,P42892,Q15125,Q96L58,Q9NR77 15 |
| Postaxial foot polydactyly 0.7930333819838719 1.940124332233484 0.0523645815647664 1.0 0.4236528734189988 6 O75845,Q14739,Q9Y263,Q9UBM7 4 |
| Abnormality of the 5th toe 0.7930333819838719 1.940124332233484 0.0523645815647664 1.0 0.4236528734189988 6 O75845,Q14739,Q9Y263,Q9UBM7 4 |
| Abnormal pupillary function 0.7921389038699629 1.9364288681198505 0.0528151966736585 1.0 0.4236528734189988 6 Q9NR77,P07602 2 |
| Memory impairment 0.472598180050246 1.9359580977230504 0.0528728332035386 1.0 0.4236528734189988 37 Q99496,P07602,Q9Y4U1,Q8WVX9,O96008,P01889,P15289 7 |
| Decreased adipose tissue 0.6169531669004205 1.9314791485478675 0.0534238254950676 1.0 0.4265701349458379 15 Q6NUK1,O75844 2 |
| Unusual infection by anatomical site 0.6249771704210859 1.9310755199258496 0.0534737138594958 1.0 0.4265701349458379 14 Q14739,P02786,O15460,O95394,P01889 5 |
| Orthostatic hypotension 0.6076440528708914 1.9234307625352127 0.054425974048476 1.0 0.427622308214378 16 P04062,P07602,P07686,P15289 4 |
| Progressive spastic quadriplegia 0.7545464578132549 1.9220707086991424 0.0545968611686951 1.0 0.427622308214378 7 P07602 1 |
| Abnormality of subcutaneous fat tissue 0.6308833581897576 1.9209582904853828 0.0547369660501964 1.0 0.427622308214378 13 P41227,Q6NUK1,O75844 3 |
| Genu valgum 0.495230026632292 1.9207340749628887 0.0547652414275405 1.0 0.427622308214378 33 P16278,Q16851,P21359,P12955,Q6NW34,Q7LGA3,P36776,Q01082,P51798,Q9NR77,Q9Y619,Q04721,Q96L58 13 |
| Decreased muscle mass 0.5896788689272876 1.917520830324416 0.0551717972354088 1.0 0.427622308214378 18 P52788,P04066 2 |
| Abnormality of cardiovascular system electrophysiology 0.3592229668549939 1.9152315031917173 0.0554629865582436 1.0 0.427622308214378 99 P50402,P07602,P13473,P10253,P40855,O43772,O15460,P41227,Q9H490,P42892,P04062,P01889,P56589,P06280 14 |
| Cns hypomyelination 0.4827459032403201 1.914257293656047 0.0555872883119001 1.0 0.427622308214378 35 Q00577,Q99720,Q8N8R5,Q9H7D7,O15160,P35637,P51572,P07686 8 |
| Abnormal pericardium morphology 0.636939621817105 1.913460090416408 0.0556891780086192 1.0 0.427622308214378 12 Q14108,P04062,P01889 3 |
| Chronic diarrhea 0.5793178879737262 1.90985831958248 0.0561514578966739 1.0 0.427622308214378 19 Q96BN8,O60934,P02786,Q9BT22,Q13510,P07686 6 |
| Webbed neck 0.4759163308141614 1.909301477133548 0.0562232118772032 1.0 0.427622308214378 36 P46777,P61353,P18077,P21359,P42766,P61313,P62847,P52788,P61254,P41227,O75844,P62244,P39019,Q07020 14 |
| Red eye 0.5792154801010712 1.909242129821972 0.0562308637930977 1.0 0.427622308214378 19 P02786,Q14739 2 |
| Pedal edema 0.7852199954945507 1.9077968179476892 0.056417482212369 1.0 0.427622308214378 6 Q14108 1 |
| Upslanted palpebral fissure 0.3902614649330011 1.9033758341312024 0.0569915219943009 1.0 0.4290718394699809 85 Q00577,P20700,Q92890,Q9Y4A5,O60826,Q15125,Q6UVJ0,Q9UM00,Q9UBM7,Q14004,P40855,Q86XL3,P56589,Q969N2,P52788,O60934,Q7LGA3,O75175,Q13426,O96011 20 |
| Recurrent fever 0.6198224436086506 1.9031871052992029 0.0570161351161262 1.0 0.4290718394699809 14 Q96BN8,Q8N8R5,Q01082,Q13510,P51572,Q9NR77 6 |
| Abnormal exteroceptive sensation 0.4253478864733718 1.9022277781534496 0.05714138278053 1.0 0.4290718394699809 55 P07602,P11166,P54802,Q04446,Q9NZJ4,Q13045,O15460,Q9H4A3,Q8WVX9,Q9NR77,P01889,P07686,P06280 13 |
| 11 pairs of ribs 0.7308463333921511 1.9020320754736828 0.0571669613811809 1.0 0.4290718394699809 8 Q9UBN7,Q14739,Q96L58 3 |
| Skeletal muscle hypertrophy 0.4550942484822325 1.9015227016188203 0.0572335818782316 1.0 0.4290718394699809 43 P16278,Q01433,Q9NR77,P07686,P04066 5 |
| Schizophrenia 0.5626305435590501 1.9001561821670323 0.05741262663256 1.0 0.4290718394699809 21 P04062,P07602,Q9BQE5,P15289 4 |
| Visual loss 0.4444083582057547 1.895729019763444 0.0579958859180433 1.0 0.4290718394699809 48 Q99496,P07602,O75503,P51798,P50897,O14773,P01889 7 |
| Abnormal sensory nerve conduction velocity 0.7481652275021362 1.894448892237714 0.0581654520025858 1.0 0.4290718394699809 7 Q9NR77,Q9H4A3 2 |
| Foot dorsiflexor weakness 0.4967095886747772 1.8903484683776064 0.0587113705045876 1.0 0.4290718394699809 32 Q14739,Q99720 2 |
| Hyperglycemia 0.7809760121342723 1.8901931940316703 0.058732126606436 1.0 0.4290718394699809 6 O75844 1 |
| Abnormality of the hallux 0.4359473574944161 1.8876870734344 0.0590679727545917 1.0 0.4290718394699809 51 P52788,Q7LGA3,P55011,P41227,O75175,O60762,O60826,Q15125,P04062,Q96L58 10 |
| Impaired proprioception 0.4729788699380954 1.8850152147510748 0.0594277836972421 1.0 0.4290718394699809 36 P54802,Q9H0B6,O14773,Q9NR77,Q9Y619,Q8IV08 6 |
| Abnormality of hair texture 0.4267414685317828 1.883697609319879 0.0596058900018583 1.0 0.4290718394699809 54 Q9UM00,Q14004,P54802,O75844,P15586,P51798,Q6NUK1,Q15125 8 |
| Abnormal scapula morphology 0.4407136208232181 1.883461359341499 0.0596378716835337 1.0 0.4290718394699809 49 Q9BTV4,Q9UM00,Q14739,P46777,P61353,P18077,P61313,P42766,O75340,P62847,P50402,P61254,Q9Y487,P62244,Q9Y619,P39019,Q07020 17 |
| Cardiovascular calcification 0.7260249215008393 1.8805048691785329 0.0600393033968156 1.0 0.4300322044752049 8 O75844 1 |
| Emg chronic denervation signs 0.6075927863039425 1.8798298788339496 0.0601312669561866 1.0 0.4300322044752049 15 P07602,Q13510 2 |
| Joint subluxation 0.7779659478659645 1.8776889897977385 0.060423723791348 1.0 0.4300322044752049 6 P16278 1 |
| Acute hepatic failure 0.63003259061164 1.8773143675096713 0.0604750201963608 1.0 0.4300322044752049 12 P38571 1 |
| Prominent forehead 0.4016969482587511 1.8768879432004155 0.06053345368578 1.0 0.4300322044752049 76 Q14739,P12955,Q15392,P55011,P11233,P41227,O75175,Q9ULH0,P15586,Q9BZI7,Q96L58,P04066 12 |
| Sensorimotor neuropathy 0.5327882274768104 1.876238557063239 0.0606225298149563 1.0 0.4300322044752049 25 P07602,Q5KU26 2 |
| Abnormality of the alveolar ridges 0.8411737730519984 1.8747788459903445 0.0608231545605781 1.0 0.4307833080793598 5 Q15392,Q9UBM7 2 |
| Ventricular arrhythmia 0.5089374523585375 1.8737611139828751 0.0609633583054765 1.0 0.4311048059331285 29 P50402,P10253,P13473,O43772,P41227,P42892 6 |
| Osteolysis involving bones of the upper limbs 0.7242867937540093 1.8727327026417324 0.0611053050958152 1.0 0.4314376122215402 8 O75844,Q9H4A3 2 |
| Limb joint contracture 0.3639846810581847 1.8704848822957076 0.0614165144122047 1.0 0.4329626217554961 96 Q9BTV4,Q9BZI7,P50402,Q15392,Q99720,Q7LGA3,Q96AY3,Q9H7D7,P41227,O75844,O60762,P42892,Q9Y619,P37268,Q96L58,Q9NR77 16 |
| Wide anterior fontanel 0.55767651797796 1.869005681463827 0.0616220239422564 1.0 0.4333924112677104 21 Q6NW34,P40855,Q32P28,P56589,O96011,Q6NUK1,Q15125 7 |
| Ulnar deviation of the hand or of fingers of the hand 0.6354207428189099 1.8686745370837217 0.0616681086629005 1.0 0.4333924112677104 11 Q14739,Q9UBM7 2 |
| Multiple prenatal fractures 0.7415386246214142 1.8656825547244336 0.0620857918237616 1.0 0.4350009616751012 7 Q14739 1 |
| Wormian bones 0.5972783160212337 1.8649810855139544 0.0621840554869113 1.0 0.4350009616751012 16 Q32P28,Q96AY3,O75844 3 |
| Abnormality of the amniotic fluid 0.381400781165333 1.8626177908542716 0.062516059486847 1.0 0.4356021467270801 88 Q99496,Q9UM00,Q14739,Q9UBM7,O95342,Q9BT22,Q9ULH0,O75844,P51798,Q9Y285,Q6NUK1,Q15125,P04062,Q96L58,P50570 15 |
| Abnormal aortic valve physiology 0.4562030840878069 1.8623247072110976 0.0625573349049446 1.0 0.4356021467270801 39 P16278,O75844,O60826,Q15125,P04062,P01889 6 |
| Unusual infection 0.3902543539644327 1.861188452923615 0.0627175684515364 1.0 0.436050128056783 183 P07602,P10253,Q00577,P20700,P15586,O60826,P26038,P04066,Q14739,P16278,Q9UBM7,Q16851,P02786,P54802,Q9BT22,P09601,Q13510,P12955,O60934,O15460,P53634,Q9H490,P04062,Q99496,P41227,P51798,Q13423,P01889,Q9H1A4 29 |
| Talipes calcaneovalgus 0.8367210224760606 1.8572898866780787 0.063269922478063 1.0 0.4392188358896989 5 Q9UBM7 1 |
| Wide mouth 0.410019735053016 1.8528753106456393 0.0639002326189459 1.0 0.4395543366965695 61 Q99496,Q9UM00,P16278,Q9UBM7,P55011,P15586,Q9H490,Q01105 8 |
| Anhidrosis 0.8348573664578143 1.8499617640732748 0.0643190607206518 1.0 0.4406143377263333 5 P20700,P04066 2 |
| Bilateral tonic clonic seizure with generalized onset 0.7002491710302674 1.8497952495436256 0.0643430658126864 1.0 0.4406143377263333 9 P04062,Q00577,Q13510,Q9Y320 4 |
| Abnormality of the pharynx 0.4504116302425938 1.845341626343649 0.064987858804056 1.0 0.4434717869363598 42 P16278,O60934,P54802,P15586,Q13510,P01889 6 |
| Abnormal delivery 0.5590765061829134 1.843311192820357 0.0652835878692441 1.0 0.4434717869363598 20 Q9UBM7,O75844,Q9Y619,P33991,P50570 5 |
| Hypoplastic vertebral bodies 0.8330592913892568 1.8428869097952791 0.0653455239162879 1.0 0.4434717869363598 5 Q14739 1 |
| Telangiectasia 0.4851049717903007 1.8414843913539671 0.0655506058639889 1.0 0.4435373611801468 33 Q14739,Q9H1A4,P12955,O60762,P10619,P06280 6 |
| Temperature instability 0.6983193959130842 1.840873422481416 0.0656401099979455 1.0 0.4435373611801468 9 P07602 1 |
| Sprengel anomaly 0.499765424943805 1.8391198791733048 0.0658975557130738 1.0 0.4445640739278144 30 Q9BTV4,Q9UM00,P46777,P50402,P61353,P18077,P61313,P42766,P61254,P62847,P62244,P39019,Q07020 13 |
| Impaired temperature sensation 0.8314407409850506 1.8365145785504429 0.0662815879833367 1.0 0.4464924156447882 5 Q9NR77 1 |
| Abnormal eyelash morphology 0.4004564371134216 1.8356209181565504 0.0664137412246639 1.0 0.4466448307903694 74 Q99496,Q9UM00,P20700,Q9UBM7,Q9Y619,P41227,O75844,Q4J6C6,Q6NUK1,Q15125,Q5KU26,Q9H1A4 12 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.9921635434412276 1.8335734595196205 0.0667173349117296 1.0 0.4466448307903694 2 O75503 1 |
| Submucous cleft of soft and hard palate 0.5334693173423694 1.83356155774899 0.0667191030212788 1.0 0.4466448307903694 24 O75844,O43505,Q15392 3 |
| Abnormal metacarpal morphology 0.5334607075170263 1.8335039495537635 0.0667276617554681 1.0 0.4466448307903694 24 Q14739,P16278,Q32P28,Q96L58,Q9H1A4 5 |
| Hypoplasia of teeth 0.5574221429185489 1.8330485171596569 0.0667953562651091 1.0 0.4466448307903694 20 P51648,Q99622,P21359,P55011,O75844 5 |
| Aplasia hypoplasia of the clavicles 0.6213519736956234 1.831703076567588 0.0669956700598808 1.0 0.4471129306383813 12 Q9Y619,O75844 2 |
| Abnormalities of placenta or umbilical cord 0.5988328251131536 1.8312581361455604 0.0670620230251541 1.0 0.4471129306383813 15 O75844,P16278 2 |
| Acetabular dysplasia 0.7659918444399881 1.8277948215501465 0.0675803507092529 1.0 0.4472240839861934 6 P16278,Q96L58 2 |
| Postural instability 0.5822233399963127 1.8244437989598945 0.0680850055445674 1.0 0.4486703191465914 17 O75503,Q8WVX9,Q9NR77,P04062,O75165 5 |
| Hypocholesterolemia 0.7310217911666581 1.81985879453138 0.0687805113483939 1.0 0.4519436200883628 7 P07602 1 |
| Generalized hyperkeratosis 0.9344165182867504 1.8191763531070724 0.0688845292785533 1.0 0.4519739605044476 4 O75844 1 |
| Vacuolated lymphocytes 0.9877342419080068 1.8159367899998184 0.0693800689755028 1.0 0.4533167965098138 2 P04066 1 |
| Status epilepticus 0.4381112725022732 1.815233902962878 0.0694879716664482 1.0 0.4533167965098138 47 P07602,Q15392,Q05682,Q13510,P42892 5 |
| Short nail 0.7621366403006147 1.811679758235223 0.0700356930557943 1.0 0.4549318518924243 6 O75844,Q9Y487,Q96L58 3 |
| Heparan sulfate excretion in urine 0.9860306643952308 1.8091494496807377 0.0704277884914312 1.0 0.4561754334338148 2 P15586 1 |
| Asymmetric septal hypertrophy 0.9860306643952308 1.8091494496807377 0.0704277884914312 1.0 0.4561754334338148 2 P15586 1 |
| Protuberant abdomen 0.8237101438901724 1.806028936527278 0.0709138197604302 1.0 0.4580186625719831 5 P38571 1 |
| Abnormality of the pineal gland 0.7599825699987968 1.802664897992701 0.0714408580955583 1.0 0.4588157934470391 6 O95342,Q10471 2 |
| Slender long bone 0.6071725232127559 1.7942270540110123 0.0727769356659115 1.0 0.4652642144008084 13 Q32P28,Q9Y487,Q9H490,Q9Y619,P37268,Q96L58 6 |
| Dermal translucency 0.687892027031398 1.792529107529777 0.0730482508784784 1.0 0.4652642144008084 9 O75844,Q96L58 2 |
| Abnormal pulmonary interstitial morphology 0.5057871482744006 1.7924870769344514 0.0730549774382196 1.0 0.4652642144008084 27 Q14108,P04062,Q9Y285,Q13510 4 |
| Postaxial hand polydactyly 0.6878777589768075 1.7924628009703736 0.0730588627847321 1.0 0.4652642144008084 9 Q9UM00,Q14739,Q9UBM7 3 |
| Diplopia 0.5504225328159233 1.789522044028235 0.0735307805784821 1.0 0.4663102640032893 20 P11166,O15460,O14773,P04062,P01889,O75165 6 |
| Cns demyelination 0.5837240639588048 1.788059988593003 0.0737663300002324 1.0 0.4666171491224226 16 Q9Y4U1,P40855,P07602 3 |
| Abnormal acetabulum morphology 0.5985561158650733 1.78732396940325 0.0738851421393052 1.0 0.4666171491224226 14 Q6NUQ1,Q96AY3,P16278,Q96L58 4 |
| Abnormality of the wrist 0.5045824431912503 1.7838589167481709 0.0744465931084203 1.0 0.4688485579833622 27 P16278,Q9ULH0,O75844,Q13510,Q15125 5 |
| Acute coronary syndrome 0.566647777042648 1.7813217903918088 0.0748598966997482 1.0 0.4701491026156841 18 O75844,P06280 2 |
| Cardiorespiratory arrest 0.9227690692776792 1.7760604077453956 0.0757229610567029 1.0 0.4715105885702449 4 P13473,O43772 2 |
| Duplication involving bones of the feet 0.5808510996172056 1.7716860640044507 0.0764466842689937 1.0 0.4732706696624158 16 Q15125,Q14739 2 |
| Shuffling gait 0.5956429381466103 1.7713539775048754 0.0765018566531505 1.0 0.4732706696624158 14 P41227,O75844,Q96QK1,P04062,O75165 5 |
| Progressive visual loss 0.5462588099022828 1.7635509564197254 0.0778076109791774 1.0 0.4774564161464678 20 O14773,O75503,P50897 3 |
| Abnormality of lysosomal metabolism 0.9192800279435784 1.7631185967174414 0.0778804893415581 1.0 0.4774564161464678 4 P07602,Q13510 2 |
| Hyperconvex nail 0.6997337163184876 1.7623007366743433 0.0780184994934738 1.0 0.4774564161464678 8 P42892 1 |
| Abnormality of the cervical spine 0.3505015999961887 1.7596824209557234 0.0784616680168941 1.0 0.4788794690910304 102 P61353,Q5SRE5,Q92890,P42766,P62847,P15586,O60826,Q15125,P04066,Q07020,Q9UM00,P16278,P18077,P21359,Q9UBM7,P61313,P62081,Q96L58,Q96HY6,P46777,Q9UQE7,O60934,Q7LGA3,P11166,P39019,O95831,P50402,P62244,Q04721,Q13620,P61254 31 |
| Broad toe 0.4972444663012846 1.7581091027829168 0.0787289472333976 1.0 0.4798666529091944 28 Q7LGA3,P55011,Q9Y296,P41227,O75175,O60826,Q15125 7 |
| Fasciculations 0.4634606767367191 1.7570955027273905 0.0789015321685953 1.0 0.4802747881801912 35 P07602,Q13510,P06280 3 |
| Abnormal thoracic spine morphology 0.5275961745028735 1.7516610209598091 0.0798321131530077 1.0 0.4840783775163498 23 P04062,O75845,P51648,O75844 4 |
| Erlenmeyer flask deformity of the femurs 0.9161723844217488 1.7515815653537223 0.0798457847233917 1.0 0.4840783775163498 4 P04062,P07602 2 |
| Chronic fatigue 0.6967841296529258 1.7489557651796257 0.0802986659945896 1.0 0.485608683044287 8 P07602 1 |
| Prolonged neonatal jaundice 0.576315461689399 1.7457876704589503 0.0808478541999484 1.0 0.4882007875792371 16 P61916,O15118,P56589 3 |
| Variable expressivity 0.3936988627761065 1.7446687441461164 0.0810425469862823 1.0 0.4887274020512278 73 Q00577,P07602,P41227,Q9H061,O60762,Q13510,Q9NR77,Q15125 8 |
| Heterogeneous 0.4400691708434162 1.7406538643330816 0.0817442698157109 1.0 0.4916550196455523 41 P11717,O75844,P51798,Q9BQE5,Q9NR77,Q9Y619,P61916 7 |
| Abnormal visual electrophysiology 0.4320997468258985 1.739870715267572 0.081881721894137 1.0 0.491831161760424 46 P07602,O75503,P50897,O14773,P15289 5 |
| Abnormal tracheal morphology 0.4551151386060405 1.7363139579908713 0.0825083365443331 1.0 0.4942890728156556 36 P46777,Q14739,Q96HY6,Q9UBM7,P55011,Q9H7D7,O15160,Q9Y4A5,Q15125,Q96L58 10 |
| Duplication of hand bones 0.4149527164885715 1.7340999532684704 0.0829003498235934 1.0 0.4948916560434291 53 P61353,Q92890,P42766,P62847,O60826,Q15125,Q10713,Q07020,Q9UM00,Q14739,P18077,P61313,Q9UBM7,P46777,Q13045,Q9Y263,P39019,O75845,P41227,P62244,P61254 21 |
| Bowing of the arm 0.8055238946744776 1.733995358691966 0.0829189066869351 1.0 0.4948916560434291 5 Q32P28 1 |
| Upper limb postural tremor 0.9110560989795146 1.7325674965531357 0.0831725705865082 1.0 0.4951576028138451 4 Q9NR77 1 |
| Short ribs 0.6747981297973795 1.7315038632964 0.0833619364387927 1.0 0.4954859150159355 9 Q9Y619,Q14739 2 |
| Progressive microcephaly 0.4389423135289655 1.7305806870234908 0.0835265787374257 1.0 0.495816388406103 41 P09543,P11166,Q01433,Q9BT22,Q9HC21,Q9Y487,Q8WVX9,P50897,Q9Y263,Q5KU26,P08243,Q86SZ2 12 |
| Abnormal peripheral myelination 0.470845293673894 1.7290143002353706 0.0838065357328852 1.0 0.4968296192665307 33 P07602,P20700,Q9Y4U1,Q9H0B6,Q9H4A3,Q9NR77,P15289 7 |
| Abnormal fingernail morphology 0.4243738864106722 1.7262398693804082 0.0843042681012553 1.0 0.4985825505433478 49 Q14739,P12955,O75844,O60826,Q9H4A3,Q15125 6 |
| Chorioretinal coloboma 0.7096565046154336 1.726143906234395 0.0843215265818857 1.0 0.4985825505433478 7 P41227,Q10713,Q99622,O60826 4 |
| Bilateral talipes equinovarus 0.8033573171337786 1.7253851546324883 0.0844580848698011 1.0 0.4987414440298515 5 Q15125 1 |
| Cataplexy 0.9087153841013929 1.723860344549902 0.0847330576659546 1.0 0.4989412559428394 4 P61916 1 |
| Atrioventricular canal defect 0.7410489449834278 1.723105321157114 0.0848694807391163 1.0 0.4989412559428394 6 Q9UBM7 1 |
| Blindness 0.3896031977573025 1.7196124709329657 0.0855029077552664 1.0 0.4989412559428394 75 Q99496,P07602,P16278,O43505,O43676,P06865,P51798,P50897,P07686 9 |
| Abnormality of the anterior fontanelle 0.4789564750648111 1.7164211669557776 0.0860849851752758 1.0 0.4989412559428394 31 O96011,Q9UQE7,Q6NW34,Q9Y619,P40855,Q15436,Q9BPU6,Q32P28,Q9Y487,P56589,P42345,Q6NUK1,Q15125,P37837 14 |
| Ventricular hypertrophy 0.4691813460524683 1.7158281437329157 0.0861935014673858 1.0 0.4989412559428394 33 O75844,P10253,O43772,P06280 4 |
| Neoplasm of the gallbladder 0.9065081964374826 1.7156452785435852 0.086226985933397 1.0 0.4989412559428394 4 P07602 1 |
| Progressive peripheral neuropathy 0.9065081964374826 1.7156452785435852 0.086226985933397 1.0 0.4989412559428394 4 P07602 1 |
| Biliary tract neoplasm 0.9065081964374826 1.7156452785435852 0.086226985933397 1.0 0.4989412559428394 4 P07602 1 |
| Aplasia hypoplasia involving the skeletal musculature 0.6893144661285634 1.7150874027755325 0.0863292035596274 1.0 0.4989412559428394 8 Q9NR77,O43505 2 |
| Genu varum 0.6386845552348337 1.7139622308957785 0.0865356626247439 1.0 0.4989412559428394 10 Q9Y619,Q99622,Q9H1A4 3 |
| Cough 0.5153903562936094 1.7119739499171889 0.086901469247679 1.0 0.4989412559428394 24 Q99496,P35610,Q9Y285,Q9NR77,P04062,P01889 6 |
| Opsoclonus 0.9611584327086892 1.7098224845461407 0.087298703880619 1.0 0.4989412559428394 2 P04062 1 |
| Saccadic oscillation 0.9611584327086892 1.7098224845461407 0.087298703880619 1.0 0.4989412559428394 2 P04062 1 |
| Abnormal sacrum morphology 0.4866037850724972 1.708995194756027 0.0874518395806382 1.0 0.4989412559428394 29 Q15125,Q14739,P01889,P04066 4 |
| Abnormal nerve conduction velocity 0.4365116973550705 1.708829867325622 0.0874824685283182 1.0 0.4989412559428394 41 P07602,Q99720,Q9NR77,Q9Y619,P15289 5 |
| Transient ischemic attack 0.6878051452479432 1.708231422418347 0.0875934102089117 1.0 0.4989412559428394 8 O75844 1 |
| Abnormality of the leydig cells 0.9604770017035796 1.70709562863812 0.0878042794948217 1.0 0.4989412559428394 2 P52788 1 |
| Ulnar deviation of the wrist 0.903389444844219 1.704029869721433 0.0883755070635055 1.0 0.4989412559428394 4 P16278 1 |
| Abnormal atrioventricular conduction 0.5904176811699993 1.703761366916242 0.0884256781992189 1.0 0.4989412559428394 13 P50402,O43772,P06280 3 |
| Abnormal urine cytology 0.4370807167181188 1.7036929631739683 0.0884384634606398 1.0 0.4989412559428394 40 P49257,Q15645,P21359,Q14108,Q9Y4U1,Q9Y5K6,Q9UBQ7,O15460,Q04721,P09601,Q8N1F7,P04062,P01889,P06280 14 |
| Bird like facies 0.6864615666149181 1.70212481203812 0.0887319735709895 1.0 0.4989412559428394 8 O75844 1 |
| Abnormality of dental morphology 0.3960577792001268 1.7020380059089624 0.0887482439353914 1.0 0.4989412559428394 62 Q00577,P55011,Q9Y296,Q9Y487,Q13428,Q9UM00,Q9UBM7,P36776,Q96L58,Q7LGA3,Q13045,O75175,Q6NUK1,Q9UGU0,O15160,P41227,P51798,Q9Y619,Q9H1A4 19 |
| Renal agenesis 0.4169016695186055 1.7001613940035525 0.0891005717672279 1.0 0.4989412559428394 51 P46777,P61353,P18077,P61313,P42766,Q9UBM7,P62847,Q15392,Q7LGA3,Q8WWQ0,P61254,Q13426,Q86XL3,P62244,P39019,Q07020,Q6UVJ0 17 |
| Hip osteoarthritis 0.95809199318569 1.697549540346592 0.0895928133884162 1.0 0.5007432187382992 2 P51798 1 |
| Abnormal enzyme coenzyme activity 0.3771164985685327 1.696111980236228 0.0898646752518683 1.0 0.5013677035217736 172 Q8N511,P07602,P10253,P42766,P62847,O43772,P38571,Q5JRX3,Q14739,P16278,P40855,Q13510,P10619,P07686,P61916,P12955,O95342,O43505,O15118,P04062,O75845,Q9Y4U1,Q96AY3,P51798,O60762,Q9Y285,Q9Y619,P01889 28 |
| Nephropathy 0.5347246578293228 1.6913082008633724 0.0907779545671374 1.0 0.5035678682111446 20 Q14108 1 |
| Delayed fine motor development 0.6339962696185931 1.690772571580894 0.0908802476608237 1.0 0.5035678682111446 10 P51798,Q5KU26 2 |
| Toe walking 0.5120210931983294 1.6891818226974389 0.0911845913319 1.0 0.5035678682111446 24 P50402,P07602,P15289,Q99720 4 |
| Undetectable electroretinogram 0.8988239046070405 1.6870104435484652 0.0916013438361353 1.0 0.503707967715767 4 P50897 1 |
| Thickened nuchal skin fold 0.6004655401424324 1.6867701397762245 0.0916475592356054 1.0 0.503707967715767 11 P40855,Q15125,P56589 3 |
| Cirrhosis 0.4491854273298647 1.6865923199699482 0.0916817697343377 1.0 0.503707967715767 36 Q14739,Q14108,O95342,P11717,P38571 5 |
| Muscle fiber atrophy 0.528552195299386 1.6841155119031768 0.092159347089491 1.0 0.5048330922569445 21 Q9BTV4,P50402,Q99720 3 |
| Abnormal shape of the occiput 0.5230068336974686 1.6831311106764548 0.0923497130940533 1.0 0.5048330922569445 22 P40855,O75175,O60762,O60826,P56589,O96011,Q96L58 7 |
| Abnormal upper limb bone morphology 0.3575952871805562 1.682684112034936 0.092436259019575 1.0 0.5048330922569445 93 Q14739,P16278,Q9UBM7,Q6NW34,Q7LGA3,Q96AY3,P55011,Q32P28,O75175,P53634,O75844,P51798,Q9H4A3,Q6NUK1,Q96L58,Q9H1A4 16 |
| Adrenal hypoplasia 0.6997539099671592 1.6824362975460134 0.0924842678359434 1.0 0.5048330922569445 7 O75844 1 |
| Spastic diplegia 0.5165427306353231 1.6784351410671037 0.0932621822252315 1.0 0.5070581195541841 23 P51648,P07602,Q99720,P41227,P35637 5 |
| Spinal muscular atrophy 0.5854901469483207 1.677019535676738 0.0935386617714184 1.0 0.5070581195541841 13 Q99720 1 |
| Abnormality of the skull base 0.4064925663972057 1.6769054258747684 0.0935609769751397 1.0 0.5070581195541841 54 Q14739,Q9UBM7,O43505,O60826,Q9H490,Q15125,Q96L58 7 |
| Capillary hemangioma 0.7293222908716286 1.6735500295984818 0.0942190663054312 1.0 0.5089475299634871 6 Q9UBM7 1 |
| Cupped ear 0.5915122524781014 1.6734161688415474 0.0942453970154511 1.0 0.5089475299634871 12 P42892,P52788 2 |
| Vegetative state 0.7899079299935898 1.6718053962346164 0.0945627023940891 1.0 0.5092215880024974 5 P07602 1 |
| Vertical supranuclear gaze palsy 0.5975663324857036 1.671548122240584 0.0946134618894052 1.0 0.5092215880024974 11 P61916 1 |
| Clonus 0.4684755859748757 1.6714535902633072 0.0946321182894458 1.0 0.5092215880024974 32 Q9Y619,P07602,Q01433,Q99720 4 |
| X linked recessive inheritance 0.4162698028942609 1.669909914845394 0.0949371883792875 1.0 0.5093035640861399 50 P50402,P52788,P46020,P41227,O60826,P51572,Q9BZI7,Q15125,P06280 9 |
| Partial duplication of the phalanx of hand 0.5398319331040043 1.6696765359136656 0.0949833785671974 1.0 0.5093035640861399 19 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62244,P39019,Q07020 10 |
| Abnormal metatarsal morphology 0.5204296595835631 1.6663268650219532 0.0956483286822611 1.0 0.5110610464374165 22 Q15392,O43505,Q96L58,Q9UBM7 4 |
| Abnormality of the thenar eminence 0.5465920635737365 1.6613676187749071 0.0966396370747815 1.0 0.5110668950491742 18 P46777,P61353,P18077,P61313,P42766,Q07020,P62847,P62244,P39019,P61254 10 |
| Insidious onset 0.7866851834232996 1.6589341527645758 0.0971290616969491 1.0 0.5110668950491742 5 Q9NR77 1 |
| Tube feeding 0.3917242609818245 1.6563513630371016 0.097650684517234 1.0 0.5110668950491742 63 Q969N2,P07602,Q9H1A4,Q96N66,Q99720,P55011,Q4G176,Q9H7D7,O60762,Q9H490,P37268,Q01105,P35637 13 |
| Irritability 0.3832328103884183 1.6560881320081364 0.0977039723917378 1.0 0.5110668950491742 76 P07602,O43772,P50897,Q13510,Q5KU26 5 |
| Rapidly progressive 0.6585662097196562 1.6553817615575832 0.0978470832258731 1.0 0.5110668950491742 9 Q14108 1 |
| Long eyelashes 0.4562788240433715 1.6538631035739824 0.0981553308503395 1.0 0.5110668950491742 34 Q99496,Q9UM00,P41227,Q4J6C6,Q6NUK1,Q9Y619,Q5KU26 7 |
| Profound global developmental delay 0.5742805632922431 1.6535603094048554 0.0982168827499325 1.0 0.5110668950491742 14 P40855,P55011,Q9H490,P56589,P37268 5 |
| Abnormality of peripheral nerves 0.4277659757965492 1.653547449911832 0.0982194975057779 1.0 0.5110668950491742 43 P07602,Q99720,Q9NR77,Q9Y619,P15289 5 |
| Prominent superficial blood vessels 0.6257717448690577 1.6499793369747684 0.0989471623447739 1.0 0.5135990264631133 10 Q6NUK1,O75844 2 |
| Vasculitis 0.6242056100694227 1.6421955306756213 0.1005494886329001 1.0 0.51836567439206 10 P01889,Q96BN8,O15460 3 |
| Parkinsonism with favorable response to dopaminergic medication 0.5913099003152018 1.638633272980309 0.1012896584507687 1.0 0.52029857635887 11 P04062,P07602 2 |
| Low frustration tolerance 0.6721098520004266 1.6366946328976557 0.1016942909789051 1.0 0.52029857635887 8 P04062,P41229,Q96QK1,O75165 4 |
| Abnormal hand bone ossification 0.7203430249122909 1.6354674770731672 0.1019510871280844 1.0 0.52029857635887 6 Q15125 1 |
| Tracheal stenosis 0.7808000481665722 1.6353985016704289 0.1019655363140052 1.0 0.52029857635887 5 Q15125 1 |
| Jaundice 0.4075833485021012 1.6325665516431642 0.1025601908145774 1.0 0.5207079434696578 52 Q14739,P12955,O95342,P40855,O15118,Q14376,P38571,P56589,P61916 9 |
| Temporal pattern 0.6884418360721503 1.6323076934503102 0.1026146833412116 1.0 0.5207079434696578 7 Q9NR77 1 |
| Broad based gait 0.5033246878729337 1.6301720912078652 0.1030651306625669 1.0 0.5207079434696578 24 Q00577,P52788,Q9H7D7,Q05682,O14773,P04062 6 |
| Tonic seizure 0.5089056615398289 1.6276005814179857 0.1036096057710285 1.0 0.5213058470467606 23 P07602,O60762,Q01105 3 |
| Angiokeratoma 0.9880708929788684 1.6274476020469226 0.1036420685573502 1.0 0.5213058470467606 3 P04066,P06280 2 |
| Optic nerve dysplasia 0.9396933560477044 1.6238097986932376 0.1044164081453797 1.0 0.52242065228049 2 O43505 1 |
| Abnormal glycosylation 0.5479032282229042 1.6237078584119515 0.1044381730642105 1.0 0.52242065228049 17 Q8N511,O75340,Q9BT22,Q9Y487,Q05682,O60762,Q10471 7 |
| Visual fixation instability 0.8815354571372116 1.6224026435719 0.1047171635064632 1.0 0.5232405961141628 4 Q5KU26 1 |
| Thickened ribs 0.9863667348329924 1.6213341961058578 0.1049459849659895 1.0 0.5233942805929381 3 P15586,P16278 2 |
| Resting tremor 0.5399012882985486 1.62109101042238 0.1049981216485025 1.0 0.5233942805929381 18 P04062,P12235,P07602,O75165 4 |
| Coarse hair 0.5311414476034989 1.616162419697724 0.1060592015406554 1.0 0.5255229936718171 19 Q9UM00,P15586,P54802 3 |
| Tissue ischemia 0.5227375594337041 1.6157858734624535 0.1061406168457175 1.0 0.5255229936718171 20 O75844,P01889,P06280 3 |
| Abnormality of primary teeth 0.546534186481932 1.6156324317354367 0.1061738076043401 1.0 0.5255229936718171 17 O75844,P53634,Q9UM00,P51798 4 |
| Tooth malposition 0.3547294654551748 1.6138881988971476 0.1065516788497225 1.0 0.5255229936718171 92 Q99496,Q14739,Q99622,P52788,P16278,Q9UBM7,Q9H7D7,P41227,Q9ULH0,O75844,P51798,Q9BZI7,Q01105 13 |
| Flaring of rib cage 0.935945485519598 1.6087702208190249 0.107666594701512 1.0 0.528973514065626 2 P16278 1 |
| Abnormality of the cerebrospinal fluid 0.3572433431913264 1.608128151566147 0.1078071147891033 1.0 0.528973514065626 133 P07602,P20700,P55011,O60826,Q15125,Q9UBM7,P40855,O43676,Q9NR77,Q96L58,Q15392,Q9UBN7,O43505,Q9H490,Q6NUK1,P04062,P15289,Q99496,P51798 19 |
| Abnormality of salivation 0.4240844757790097 1.6078042922907885 0.1078780480930832 1.0 0.528973514065626 42 Q9BZI7,Q14739,Q15165,P15586,Q9NR77,P01889 6 |
| Upper airway obstruction 0.7725574732176659 1.6023695356350791 0.1090739173500294 1.0 0.5320502615549144 5 O75844 1 |
| Generalized abnormality of skin 0.3766458308610277 1.6021836704089276 0.1091149999763061 1.0 0.5320502615549144 204 Q14108,O43772,Q14376,P38571,Q99829,O75844,Q15125,P04066,P06280,P49257,Q14739,P16278,Q9UBM7,P40855,P56589,P10619,Q96L58,P61916,P12955,O60934,O95342,O15118,P98194,Q6NUK1,P04062,Q9Y4U1,P41227,P51798,O60762,Q06136,P01889,Q9H1A4 32 |
| Abnormal pleura morphology 0.5046054586738394 1.5988951422417568 0.1098439036099847 1.0 0.5347539932704504 23 Q99496,Q14739,O15460,P01889,Q96L58 5 |
| Hyperkalemia 0.7711937947062162 1.5968979765310358 0.1102884509309067 1.0 0.5354571815430337 5 Q13423,Q9H4A3 2 |
| Cerebral inclusion bodies 0.5634716810681334 1.5935253763162232 0.1110423801849462 1.0 0.5378669616901663 14 P61916,P04062,O75165,O15118 4 |
| Osteosarcoma 0.5036485154347271 1.5924994410209692 0.111272528605232 1.0 0.5378669616901663 23 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62244,P39019,Q07020,Q9H1A4 11 |
| Abnormal platelet volume 0.6622118556028284 1.5913629424758349 0.1115279190764 1.0 0.5378669616901663 8 O75845,P35579,Q14739,P12814 4 |
| Dystrophic fingernails 0.644405487696783 1.5885702819376293 0.1121574419873363 1.0 0.5384550667062481 9 O75844 1 |
| Cardiac valve calcification 0.8720828667060669 1.5869785103633487 0.1125175117918266 1.0 0.5384550667062481 4 O75844 1 |
| Mitral valve calcification 0.8720828667060669 1.5869785103633487 0.1125175117918266 1.0 0.5384550667062481 4 O75844 1 |
| Gastrointestinal infarctions 0.9298126064735982 1.584149047292752 0.1131598051534967 1.0 0.5393476247724841 2 P01889 1 |
| Recurrent pharyngitis 0.9298126064735982 1.584149047292752 0.1131598051534967 1.0 0.5393476247724841 2 P01889 1 |
| Erythroid hypoplasia 0.5254038764966881 1.5807157443321374 0.113943046813248 1.0 0.5410143932191867 19 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62244,P39019,Q07020 10 |
| Abnormal myeloid leukocyte morphology 0.3522739858950737 1.5801697605611105 0.1140679948907454 1.0 0.5410143932191867 92 P61353,P61254,P42766,P62847,P38571,O95394,P26038,Q07020,O75533,Q14739,P18206,P16278,P18077,P61313,P02786,Q13510,P05165,P61916,P46777,O15118,P39019,Q96BN8,Q9Y4L1,Q9Y4U1,Q9Y3C6,Q14126,P62244,P01889,P50851,Q9H1A4 30 |
| Bone marrow foam cells 0.9740967961826852 1.5772767242612675 0.1147318656441904 1.0 0.5410143932191867 3 P38571,P61916 2 |
| Sea blue histiocytosis 0.9740967961826854 1.5772767242612675 0.1147318656441904 1.0 0.5410143932191867 3 P16278,P61916 2 |
| Abnormal cranial nerve physiology 0.3832750219377207 1.5765396750835456 0.1149014827474166 1.0 0.5410143932191867 67 Q99496,Q9BZI7,P07602,P40855,Q9H7D7,P01889,P51798,Q13510,P56589,P48735,Q9NR77 11 |
| Barrel shaped chest 0.9734151329243348 1.574827115013798 0.1152963558265369 1.0 0.5410143932191867 3 Q14739,P04066 2 |
| Dystrophic toenail 0.8680862769653621 1.571981668945441 0.1159548025285051 1.0 0.5410143932191867 4 O75844 1 |
| Hyperkeratosis 0.3867890228523558 1.564736952192569 0.1176446002927431 1.0 0.542549521386022 57 P51648,Q9H1A4,P12955,Q9UBN7,P98194,P53634,O75844,Q06136,P04062,P04066,P06280 11 |
| Pure red cell aplasia 0.514372993310482 1.5628379943682642 0.1180907050181927 1.0 0.542549521386022 20 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62244,P39019,Q07020 10 |
| Facial hypotonia 0.5704416678898477 1.5603567312820368 0.1186756038370586 1.0 0.5440327091407421 12 P10253,Q01433 2 |
| Abnormality of the umbilical cord 0.6550495805537663 1.5584612072270931 0.1191239570396507 1.0 0.5449261897980803 8 O75844 1 |
| Abnormality of the vertebral endplates 0.7019728944284059 1.5572085596958016 0.1194209767775165 1.0 0.5457358607109222 6 P51798 1 |
| Arthrogryposis multiplex congenita 0.4277354503200117 1.5533041557971852 0.1203504879056192 1.0 0.546215329048176 37 Q96AY3,P04062,O75844,Q15392 4 |
| Head titubation 0.7010487877545105 1.553260067234866 0.1203610162004586 1.0 0.546215329048176 6 P20700,Q99720 2 |
| Nephrotic syndrome 0.4975126851445132 1.5514261290060207 0.1207995975309406 1.0 0.5465430546996886 23 Q14108,Q9BT22,P52565,Q8N1F7,P06280 5 |
| Abnormality of the lymph nodes 0.420760562082512 1.5503398178226702 0.1210599750874563 1.0 0.5471766468416144 39 Q99496,P49917,Q15645,Q96BN8,Q13263,P13051,P10644,Q01844,O15460,P01889,Q13426,P51798,Q13510,P28070,P33991,P14174,P50851 17 |
| Osteolysis involving bones of the feet 0.7588449881282865 1.547262483476835 0.1217999643871818 1.0 0.5486929076339367 5 O75844 1 |
| Foot acroosteolysis 0.7588449881282865 1.547262483476835 0.1217999643871818 1.0 0.5486929076339367 5 O75844 1 |
| Absent thumb 0.4847720540642035 1.5450829775663302 0.1223261938453292 1.0 0.5501653841886373 25 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62244,P39019,Q07020 10 |
| Abnormality of carpal bone ossification 0.7581285987789645 1.5443783141487624 0.1224967104293248 1.0 0.5503878876700989 5 Q15125 1 |
| Oligosacchariduria 0.8589389600780485 1.5376169373686488 0.12414230368278 1.0 0.5561095329714748 4 P16278,P04066 2 |
| Abnormal liver morphology 0.3733816530663927 1.5359949054941828 0.1245396298258063 1.0 0.5568158277462552 219 Q8N511,P07602,P10253,Q14108,O43772,Q14376,P38571,P15586,P04066,Q14739,P16278,P40855,P54802,P11717,O43676,P35610,P09601,Q13510,P56589,P10619,P07686,P61916,P12955,O95342,O15118,P53634,P04062,Q99496,P51798,Q9Y285,Q9Y619 31 |
| Adenocarcinoma of the colon 0.5053738665730556 1.535020565672809 0.1247787764450367 1.0 0.5573152381079635 21 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62244,P39019,Q07020 10 |
| Brisk reflexes 0.4997663003917511 1.530854496352489 0.1258053574507145 1.0 0.5587568390252957 22 Q99720,Q9Y3C6,Q01082,P35637,Q5JRX3,Q10713 6 |
| Abnormal protein o linked glycosylation 0.91584327086883 1.5280276582438173 0.1265056710114946 1.0 0.5588722720744077 2 Q8N511 1 |
| Bone fracture 0.69506291532682 1.527658239236989 0.1265974137313921 1.0 0.5588722720744077 6 P51798 1 |
| Abnormal social behavior 0.3799593582844116 1.5253271082432225 0.1271775295906236 1.0 0.5593857678756352 63 P07602,Q16851,P19404,Q9Y3C6,O43676,Q10471,O96008,Q15125,Q5KU26,P15289 10 |
| Arm dystonia 0.7530379718491399 1.523869525109064 0.1275413075596998 1.0 0.5593857678756352 5 P35637,Q99720 2 |
| Abnormal reticulocyte morphology 0.4496655922196426 1.5237351158663202 0.1275748936193168 1.0 0.5593857678756352 32 P46777,P61353,P18077,P61313,P42766,P11166,P62847,P61254,P51798,P62244,P39019,Q07020 12 |
| Sensory ataxia 0.7526180049828195 1.5221765123492643 0.1279648586588937 1.0 0.5602965066159988 5 P54802 1 |
| Abnormal leukocyte count 0.333726716078621 1.5218388549510375 0.1280494630970556 1.0 0.5602965066159988 101 P61353,P61254,Q14108,P42766,P62847,P38571,O95394,P26038,Q07020,O75533,Q14739,P18077,P61313,P02786,P35610,P05165,P46777,O60934,Q13426,P04062,P39019,Q96BN8,Q9Y4L1,Q9Y4U1,Q9Y3C6,P62244,P50851,Q9H1A4 28 |
| Duplication of thumb phalanx 0.4929561836890971 1.5208553881232971 0.1282961312879225 1.0 0.5602965066159988 23 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P41227,P62244,P39019,Q07020 11 |
| Abnormal circulating acetylcarnitine concentration 0.6633583078426754 1.5204468168483931 0.128398715613343 1.0 0.5602965066159988 7 O43772 1 |
| Antenatal onset 0.5996912402738437 1.5197368223975043 0.1285771331043672 1.0 0.5604916516214109 10 Q99496,P20700,Q9Y285 3 |
| Polyneuropathy 0.5154937533895358 1.5192882026089043 0.1286899679553008 1.0 0.5604916516214109 19 P07602 1 |
| Long palm 0.956850708216861 1.51524724524788 0.1297098025934611 1.0 0.5606451256882251 3 P52788 1 |
| Femoral bowing 0.662022757579803 1.5144656582559457 0.1299077774634371 1.0 0.5606451256882251 7 Q32P28 1 |
| Decreased circulating cortisol level 0.7500388414376671 1.5117756191086484 0.1305909538152045 1.0 0.5610850963042643 5 Q99496 1 |
| Limb tremor 0.691275467706212 1.5114368937044054 0.1306771754972984 1.0 0.5610850963042643 6 Q9NR77 1 |
| Endocarditis 0.6908575208371481 1.5096458313039305 0.1311338201199154 1.0 0.5618122146934904 6 P04062 1 |
| Limb myoclonus 0.7491903427665472 1.508352608654142 0.1314643053516326 1.0 0.5618122146934904 5 Q13510 1 |
| Nasal speech 0.438318151119808 1.5076249634579444 0.1316505399475882 1.0 0.5620798170344448 34 P52788,Q92890,Q7LGA3,P55011,Q9Y296,O75175,Q9Y487,Q4J6C6,Q9BZI7 9 |
| Angina pectoris 0.9538372296026508 1.5043984012182798 0.1324788156982039 1.0 0.562770248685668 3 O75844 1 |
| Kyphoscoliosis 0.3841460320736686 1.5041572181658769 0.1325408904283875 1.0 0.562770248685668 56 P52788,Q6NW34,Q96AY3,P41227,O75844,Q9NR77,Q5KU26,Q96L58 8 |
| Kinetic tremor 0.4374942625676817 1.5008883537627669 0.1333844409305358 1.0 0.5631374678840727 34 Q14108,P07602,P15289 3 |
| Titubation 0.6255765078339758 1.499201399067143 0.1338213922130202 1.0 0.5639350049977786 9 P20700,Q99720 2 |
| Vertebral compression fracture 0.5333964184796395 1.4980327695081008 0.1341247367240752 1.0 0.5641929184038125 16 Q14108,Q32P28,P04062 3 |
| Cerebral white matter atrophy 0.4996558748627528 1.4980096033609118 0.1341307553979593 1.0 0.5641929184038125 21 P51572,O75503 2 |
| Delayed gross motor development 0.33877542771313 1.4971333863676533 0.1343585540800131 1.0 0.5644691896262318 112 P10253,P20700,Q99720,P55011,Q9Y296,Q14376,Q9Y4A5,Q5KU26,Q14004,P11233,Q9H7D7,Q9ULH0,P50570,Q7LGA3,Q6ZXV5,O75175,Q96N66,Q01433,Q9H0B6,P41227,P51798,P35637,Q10471,Q01105 24 |
| B lymphocytopenia 0.7455958385591441 1.4938446905688958 0.1352162175735642 1.0 0.5650953920306676 5 O60934 1 |
| Increased blood pressure 0.3744735220774912 1.4933589782634662 0.1353432448608698 1.0 0.5650953920306676 70 P38571,O75844,P35610,P42892,P04062,P01889,P06280 7 |
| Abnormal foot bone ossification 0.9505263300419364 1.492475935038263 0.1355744213805498 1.0 0.5650953920306676 3 Q15125 1 |
| Head tremor 0.557689484575318 1.4914756729968763 0.1358366535055024 1.0 0.5650953920306676 12 Q99720 1 |
| Tetraplegia 0.5571617640850337 1.4886184641382134 0.1365878666553739 1.0 0.5657722167922036 12 Q13423,P15289 2 |
| Malignant genitourinary tract tumor 0.4981505745410002 1.4882526800783082 0.1366842691025556 1.0 0.5657722167922036 21 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62244,P39019,Q07020 10 |
| Abnormality of the calcaneus 0.6396161281722913 1.4872996429367502 0.1369356887929611 1.0 0.5657722167922036 8 Q14739 1 |
| Abnormality of pelvic girdle bone morphology 0.3508492784252759 1.484997495740464 0.1375444874856595 1.0 0.5657722167922036 137 O94979,P55011,O75844,O60826,Q9H4A3,Q15125,Q14739,Q99622,P16278,Q9UBM7,Q9H7D7,Q96L58,Q96HY6,P12955,Q6NW34,Q7LGA3,Q9UBN7,O75175,Q96AY3,P51798,Q9Y619,P01889 22 |
| Abnormality of the maxilla 0.4354555884980839 1.4842094205271763 0.1377533713653926 1.0 0.5657722167922036 34 Q96EK5,Q9UM00,Q14739,Q9BZI7,P18583,Q9Y619,Q15436,P10644,Q9H7D7,O15160,P41229,Q6NUK1,Q13428 13 |
| Hypolipoproteinemia 0.6550914754835957 1.4833868157962202 0.1379716682648895 1.0 0.5657722167922036 7 Q10471,P38571 2 |
| Pericardial effusion 0.6845008464071389 1.4823806339305563 0.1382390439534062 1.0 0.5657722167922036 6 Q14108 1 |
| Abnormal eating behavior 0.5093998125041358 1.481396677478997 0.138500899588597 1.0 0.5663341640551715 19 P35610 1 |
| Inflammation of the large intestine 0.5916487870789465 1.4793268162087183 0.1390529891456271 1.0 0.5666865045652714 10 P08183 1 |
| Lymphopenia 0.4967187022404369 1.4789666604416705 0.1391492255530042 1.0 0.5666865045652714 21 O60934,Q13426,P61011,O95394,P26038,P28070,P50851 7 |
| Abnormal metabolic brain imaging by mrs 0.535994802265788 1.4768115333287055 0.1397261641084282 1.0 0.5667572419277637 15 P07602 1 |
| Abnormal circulating androgen level 0.560645242207412 1.4761047730023875 0.1399157677773232 1.0 0.5670204956180829 11 Q99496 1 |
| Shawl scrotum 0.682835758861458 1.4752313294411363 0.1401503612473622 1.0 0.5674654430915015 6 Q9Y619 1 |
| Abnormal lower motor neuron morphology 0.6363141097424503 1.4720307116081413 0.1410125843854555 1.0 0.5674769588899649 8 Q99720 1 |
| Abnormality of the incisor 0.4581814020615119 1.4706117948535828 0.1413961323335195 1.0 0.5674769588899649 28 Q99496,Q00577,Q7LGA3,P55011,Q9Y296,P41227,O75175 7 |
| Retinal thinning 0.901533219761506 1.470504669585556 0.141425121922639 1.0 0.5674769588899649 2 P04439 1 |
| Abnormality of the metacarpal bones 0.4384247075024471 1.4700562134801698 0.1415465299713589 1.0 0.5674769588899649 33 Q14739,P16278,Q9UBM7,Q32P28,P51798,Q6NUK1,Q96L58,Q9H1A4 8 |
| Ketotic hypoglycemia 0.9011925042589514 1.4691349410284265 0.1417961922008239 1.0 0.5674769588899649 2 Q13423 1 |
| Exercise induced muscle stiffness 0.901192504258944 1.469134941028397 0.1417961922008319 1.0 0.5674769588899649 2 P46020 1 |
| Hypoplasia of the frontal lobes 0.6192663589010563 1.4691273194157373 0.1417982590462472 1.0 0.5674769588899649 9 O60762,Q9UBM7,Q6UVJ0 3 |
| Triphalangeal thumb 0.4794485717755163 1.4669502958262692 0.1423895769624619 1.0 0.5674769588899649 24 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62244,P39019,Q07020 10 |
| Abnormality of lower lip 0.3742959728625631 1.4665502908975363 0.1424984309382455 1.0 0.5674769588899649 65 P52788,P15586,Q9BZI7,P04062,P04066,P06280 6 |
| Recurrent sinopulmonary infections 0.6804124747463758 1.4648213150922484 0.1429696748625417 1.0 0.5687516286963932 6 P02786,Q9Y487,P61011,O60934 4 |
| Mitral stenosis 0.8382454647105103 1.459695080369216 0.1443738945876989 1.0 0.5697957378728472 4 O75844 1 |
| Hypopigmentation of the skin 0.4065424761887761 1.4583848530345964 0.1447344933415135 1.0 0.5697957378728472 43 P07602,P52788,P53634,P51798,Q15125 5 |
| Multiple joint contractures 0.4978260625911349 1.457557941407302 0.1449624296433032 1.0 0.5697957378728472 20 Q9H0B6,O75844 2 |
| Dysmetria 0.3946967687649165 1.45715155407919 0.145074550115706 1.0 0.5697957378728472 50 O75503,O75027,P20700,P21359,Q6DKK2,Q9NZJ4,Q9H1B7,Q13426,Q96BR5,O14773,Q5JRX3,Q10713,Q8IV08 13 |
| Overlapping toe 0.4777838123085587 1.455511643887586 0.1455276690630618 1.0 0.5697957378728472 24 Q15125,O60826,Q9UBM7 3 |
| Abnormal ossification involving the femoral head and neck 0.8370109201206165 1.455039615966824 0.1456582944018352 1.0 0.5697957378728472 4 Q14739 1 |
| Profound hearing impairment 0.677964265699041 1.4542980210244858 0.1458636988968538 1.0 0.5697957378728472 6 P55011,Q9NR77 2 |
| High frequency sensorineural hearing impairment 0.9396823780782402 1.453409582149682 0.1461100675723901 1.0 0.5700449504210074 3 O75844 1 |
| Abnormal endocardium morphology 0.5382976843442276 1.4527124911941447 0.1463035973479911 1.0 0.5700449504210074 14 P04062,P06280 2 |
| Diabetes insipidus 0.5496734395205629 1.448021403520713 0.147611064752652 1.0 0.5712450754343958 12 P01889,P06280 2 |
| Abnormality of the phalanges of the toes 0.5372174657697735 1.4466426865638538 0.1479970242033834 1.0 0.5714818714448486 14 O75844,Q9H4A3,Q7LGA3 3 |
| Abnormal hdl cholesterol concentration 0.8333690469583692 1.4413023572524044 0.1494992816400771 1.0 0.5758129276075599 4 P38571 1 |
| Thrombocytosis 0.4495860144470341 1.4316368749783617 0.1522477706734697 1.0 0.5807639372921701 29 O75533,P46777,P61353,P18077,P61313,P42766,P61254,P62847,P35610,P62244,P39019,Q07020 12 |
| Meningitis 0.6430926433720517 1.429445842686734 0.152876130292789 1.0 0.5822049969145234 7 P02786,P01889 2 |
| Ventricular preexcitation 0.8290685392459622 1.425073959573322 0.1541358231098661 1.0 0.585258724260017 4 P13473 1 |
| Abnormal vascular morphology 0.3664992268633754 1.4246275543046274 0.1542648906752308 1.0 0.585258724260017 218 P07602,P10253,P61353,Q92890,P42766,P55011,P62847,Q9Y296,P06865,P38571,O75844,Q9Y487,O60826,Q9Y4A5,O95394,P42892,Q13428,Q07020,Q9UM00,Q99622,P16278,P18077,P21359,Q9UBM7,P40855,P61313,Q9H7D7,Q13510,P10619,P07686,P61916,Q96L58,Q969N2,P46777,Q15392,Q7LGA3,Q6ZXV5,O15118,O15460,O75175,Q6NUK1,P04062,P39019,Q99496,O75845,Q9UGU0,Q96BN8,Q9Y4L1,O15160,P41227,P51798,O60762,P62244,Q04721,P01889,P61254 56 |
| Reticulocytopenia 0.4924402533306621 1.423154604556384 0.1546913419593021 1.0 0.585258724260017 20 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62244,P39019,Q07020 10 |
| Hirsutism 0.3789493855979865 1.419476499071943 0.1557601436215923 1.0 0.5869980133270417 55 P12955,P16278,P54802,P53634,P15586,Q6NUK1 6 |
| Abnormal muscle fiber protein expression 0.6402459562199202 1.4166244282109897 0.1565927625416199 1.0 0.5882781723503971 7 P50402 1 |
| Infantile muscular hypotonia 0.3811599694150225 1.415015564687037 0.1570639325342824 1.0 0.5882781723503971 54 P07602,P52788,P16278,Q13510 4 |
| Abnormality of chromosome stability 0.524929980383138 1.4134819008422976 0.1575140793685014 1.0 0.5884702621645386 15 Q99496,Q13426,P33991,O60934 4 |
| Abnormality of mouth size 0.3370223806669274 1.4124714679182306 0.1578111860556037 1.0 0.5884702621645386 119 Q99496,Q9UM00,P52788,P16278,Q9UBM7,Q15392,P55011,Q14004,Q9UBN7,O75175,O75844,P15586,Q9H490,Q9Y619,P04062,Q01105 16 |
| Patellar aplasia 0.8244843222486397 1.407767732385034 0.1591998580663829 1.0 0.5913314881144184 4 Q9Y619 1 |
| Thin skin 0.4651197564275383 1.4073970996669825 0.1593096707587777 1.0 0.5913314881144184 25 P12955,Q9Y619,O75844,Q96L58 4 |
| Flared metaphysis 0.6060638603318731 1.4060256344357225 0.1597165128989186 1.0 0.5923580621136892 9 Q14739,Q96L58 2 |
| Fetal ultrasound soft marker 0.5169091299961401 1.4017621772758917 0.1609862764517748 1.0 0.5948350565669034 16 P40855,Q15125,O60826 3 |
| Abnormality of the neck 0.353585590429329 1.400482992870805 0.1613687327654465 1.0 0.5952624455557395 158 P61353,Q5SRE5,Q99720,P42766,Q92890,P62847,O75844,P15586,O60826,Q9Y487,Q13428,Q15125,Q07020,Q9UM00,Q14739,P16278,P18077,P21359,Q9UBM7,P40855,P61313,P56589,Q96L58,Q96HY6,P46777,P52788,P12955,O60934,Q7LGA3,P11166,O75175,Q6NUK1,Q9H269,P39019,P50402,P62244,O15160,P41227,P35637,O96011,Q04721,P61254 42 |
| Breech presentation 0.6202698150582686 1.39764394254226 0.1622200157111277 1.0 0.596989227226208 8 Q9UBM7 1 |
| Abnormal shape of the frontal region 0.3289930077035777 1.396291575196582 0.162626709762115 1.0 0.596989227226208 107 Q14739,P16278,Q15392,Q9Y619,Q16851,Q9UBN7,P41227,Q9ULH0,P51798,P15586,Q4J6C6,O60826,Q15125,Q96L58,P04066 15 |
| Young adult onset 0.5456765830239916 1.3961410808355907 0.1626720150721952 1.0 0.596989227226208 11 P07602 1 |
| Patchy hypopigmentation of hair 0.8210012648450196 1.3946141734630462 0.16313221868211 1.0 0.5981496058036637 4 Q9UM00 1 |
| Slow pupillary light response 0.8206174178357519 1.393164387007132 0.1635700862989106 1.0 0.5981496058036637 4 P07602 1 |
| Abnormal pupillary light reflex 0.8206174178357519 1.393164387007132 0.1635700862989106 1.0 0.5981496058036637 4 P07602 1 |
| Aortic valve calcification 0.9228990536740146 1.3929135167578623 0.1636459444952183 1.0 0.5981496058036637 3 O75844 1 |
| Aplasia hypoplasia of the sacrum 0.8814310051107465 1.389708604974251 0.1646173807565467 1.0 0.5993695990041161 2 P04066 1 |
| Glossitis 0.9216087252897056 1.3882618683742023 0.1650573190226922 1.0 0.5993695990041161 3 P01889,O15460 2 |
| Abnormality of humoral immunity 0.3876681005343659 1.3874533437035723 0.1653035685838348 1.0 0.5993695990041161 50 Q969N2,P12955,O60934,Q96BN8,Q14108,P02786,P09601,O95394,P26038,P04062,P50851 11 |
| Delayed puberty 0.3809387382712892 1.3869787488013343 0.1654482430386785 1.0 0.5993695990041161 53 Q14108,O75844,P06280 3 |
| Abnormal ilium morphology 0.5011511802428215 1.3856782039235154 0.1658451865503416 1.0 0.5993695990041161 18 P16278,Q6NW34,Q9UBN7,P01889,Q96L58 5 |
| Abnormal nervous system electrophysiology 0.3578416291389687 1.3833664629547358 0.166552528344078 1.0 0.5996154761524332 176 P07602,O75503,Q00577,P20700,Q99720,Q14108,P55011,Q9BQE5,P50897,Q9H4A3,O14773,Q15125,P40855,P56589,Q9NR77,P52788,P15289,Q96N66,Q9NQZ5,O60762,Q9Y619 21 |
| Flat occiput 0.5714913737230003 1.3776121063582425 0.168323081121331 1.0 0.6020787446423136 10 P40855,O60762,P56589 3 |
| Infectious encephalitis 0.571477547156547 1.3775421495057558 0.1683446926722125 1.0 0.6020787446423136 10 Q14739 1 |
| Reduced visual acuity 0.3281593983343704 1.3749382912591128 0.1691505767377668 1.0 0.6037004982513137 108 P07602,P06865,P50897,P16278,O43676,Q9H7D7,Q9ULH0,P07686,O43505,Q9H061,Q13426,P10412,P19404,P15289,Q99496,Q9Y4U1,P41227,P51798,P01889 19 |
| Hyperhidrosis 0.4382555979966806 1.3723223732061525 0.1699631037359401 1.0 0.6048502823200722 30 Q9H0B6,Q9H4A3,P01889,P07686,P04066 5 |
| Malnutrition 0.6302155422265594 1.3713816018734146 0.1702560296861883 1.0 0.6048502823200722 7 P38571 1 |
| Malabsorption 0.3817508869310234 1.3713433490056397 0.1702679483988767 1.0 0.6048502823200722 52 Q14739,O95342,P40855,P38571,P09601,P01889,P06280 7 |
| Functional motor deficit 0.3407373745531173 1.3683680076296023 0.1711969130992048 1.0 0.605127085658877 132 Q99496,P07602,P13473,P52788,Q99720,Q9H0B6,Q9Y285,Q13510,O14773,Q9NR77,P04062,P15289 12 |
| Heart block 0.4791832373418042 1.364888470155973 0.1722881066397192 1.0 0.6060558829464561 21 P50402,O43772,Q9H490,P06280 4 |
| Abnormality of circulating glucocorticoid level 0.5972853497675311 1.363949000836739 0.1725836172073269 1.0 0.6060558829464561 9 Q99496 1 |
| Abnormal aortic valve morphology 0.3981958739442412 1.3624841430125385 0.1730451450955008 1.0 0.6060558829464561 41 O75844,Q6NUK1,P04062,P01889,Q96L58,P06280 6 |
| Abnormal intraocular pressure 0.7125133581805398 1.3598659611934676 0.1738723442845211 1.0 0.6060558829464561 5 Q99496 1 |
| Long nose 0.612035629905873 1.3593549471103203 0.1740341401600074 1.0 0.6060558829464561 8 Q13426,O60934,Q9H490 3 |
| Thoracolumbar kyphosis 0.7122781888216205 1.358911174659846 0.1741747373857807 1.0 0.6060558829464561 5 P04062 1 |
| Short clavicles 0.5959982676623845 1.3577726808374 0.1745358261296803 1.0 0.6060558829464561 9 O75844 1 |
| Abnormal gallbladder morphology 0.4153193474033508 1.3575518211769684 0.174605939445757 1.0 0.6060558829464561 35 P07602,O95342,P40855,P04062,P15289 5 |
| External ear malformation 0.5150797285499078 1.35693739297426 0.174801104236518 1.0 0.6062704965396245 15 P41227,P40855,Q00577,P56589 4 |
| Hypoplasia of the musculature 0.7116716299652142 1.356448428110624 0.1749565336136902 1.0 0.6063470719065926 5 Q9NR77 1 |
| Abnormality of the musculature of the upper limbs 0.3618725058474616 1.3531685559616915 0.1760017881586628 1.0 0.6072135418694506 71 Q9BTV4,P07602,P61353,P42766,P62847,Q9Y487,Q07020,P12235,P18077,P61313,O75340,Q9NR77,P50570,P46777,P39019,P50402,Q9Y6X9,P62244,P61254 19 |
| Simplified gyral pattern 0.4357590355096527 1.3531295628070168 0.1760142427404285 1.0 0.6072135418694506 30 Q13620,P20700,Q9Y3C6,Q13426,Q86XL3,Q5KU26,P08243 7 |
| Persistence of hemoglobin f 0.4813123558543696 1.351896520909875 0.1764084206750702 1.0 0.6072135418694506 20 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62081,P62244,P39019,Q07020 11 |
| Vomiting 0.3316907003053407 1.3505695952417125 0.1768333459531301 1.0 0.6076157105798105 94 P07602,Q9UBM7,P11117,O43676,P38571,P35610,Q13423,Q9Y619,P06280 9 |
| Ventricular escape rhythm 0.6538335579233234 1.3502801119572274 0.1769261492869296 1.0 0.6076157105798105 6 P50402 1 |
| Proportionate short stature 0.4143613590373309 1.3495264042781685 0.1771679451581762 1.0 0.6078040228723566 35 Q96HY6,Q14739,P16278,Q15392,Q9Y619,P10619,Q96L58 7 |
| Radial bowing 0.8075210102365783 1.3436796534357287 0.1790519995432866 1.0 0.6121463791874444 4 Q32P28 1 |
| Limited hip movement 0.5248518193059735 1.3436760895999516 0.1790531524784036 1.0 0.6121463791874444 13 Q96AY3,O75844 2 |
| Abnormal paranasal sinus morphology 0.486776276573442 1.3400660817590722 0.1802238620320944 1.0 0.6136202919409154 19 P50851,O60934,P21359,P61011,O95394,P28070,Q04721,P04066 8 |
| Long fingers 0.3517316659537732 1.3389678002049743 0.1805811556430392 1.0 0.6138422779344191 81 Q9BZI7,P52788,P12955,O75175,P53634,Q9H4A3,Q9Y285,P42892,Q15125,Q96L58 10 |
| Recurrent fractures 0.437314666407982 1.3388202432949077 0.1806291990051138 1.0 0.6138422779344191 29 P52788,Q96AY3,Q32P28,P51798,Q96L58 5 |
| Anisopoikilocytosis 0.9067197330698694 1.3345935868978671 0.1820093981203832 1.0 0.6161063181666472 3 Q05682 1 |
| Schistocytosis 0.9067197330698694 1.3345935868978671 0.1820093981203832 1.0 0.6161063181666472 3 Q05682 1 |
| Abnormal erythrocyte enzyme level 0.4857463195318079 1.333611495366528 0.1823312136193273 1.0 0.6162787778989418 19 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62244,P39019,Q07020 10 |
| Abnormal leukocyte physiology 0.3707550332480684 1.3332365982731291 0.1824541725470065 1.0 0.6162787778989418 55 Q969N2,P12955,O60934,Q92890,Q14108,P02786,Q96BN8,P09601,O95394,P26038,P04062,P50851 12 |
| Metaphyseal cupping 0.804667998088028 1.3328958623335645 0.1825659806091653 1.0 0.6162787778989418 4 Q9UBN7,Q14739 2 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.6214834412333821 1.3319202204739335 0.1828864057424821 1.0 0.6169024383613252 7 P50402 1 |
| Scotoma 0.5897203770470533 1.3276231889540118 0.1843026199852437 1.0 0.619250109103629 9 Q9H061 1 |
| Occipital encephalocele 0.8030419824025513 1.3267495194635517 0.184591554193453 1.0 0.619250109103629 4 Q6ZXV5,O43505 2 |
| Sparse eyelashes 0.4977404708054564 1.325115968161377 0.1851326906882415 1.0 0.619250109103629 17 Q15125,O75844 2 |
| Back pain 0.4730627789059407 1.3249407924497036 0.1851907896666809 1.0 0.619250109103629 21 Q9BTV4,Q99496,P50402,P51798,P01889 5 |
| Elevated serum acid phosphatase 0.903889743259056 1.324395786233896 0.185371633311661 1.0 0.619250109103629 3 P07602 1 |
| Hypothermia 0.5609354777261447 1.3241405510080977 0.1854563702091374 1.0 0.619250109103629 10 O43772,P20700 2 |
| Abducens palsy 0.8019120699665399 1.322478336743894 0.1860089184140556 1.0 0.619250109103629 4 P07602 1 |
| Akinesia 0.5879544148011919 1.3191355044116848 0.1871238153701488 1.0 0.619250109103629 9 P51114,P04062,Q96QK1,O75165 4 |
| Abnormality of the odontoid process 0.7023427890411401 1.318551807726223 0.1873189941263211 1.0 0.619250109103629 5 P36776,P16278 2 |
| Increased circulating antibody level 0.5144323246798606 1.3181951807517234 0.1874383183864325 1.0 0.619250109103629 14 Q14108,Q96BN8,P04062,P12955 4 |
| Leukopenia 0.3888487089089918 1.3171219579424005 0.1877977478683394 1.0 0.619250109103629 45 P46777,P61353,P18077,Q07020,P42766,Q14108,P62847,P61313,P62244,P38571,O95394,P04062,P39019,P61254 14 |
| Hypokinesia 0.5140282611407442 1.3159112817671834 0.1882038216989885 1.0 0.619250109103629 14 P13473 1 |
| Abnormality of hair pigmentation 0.4716185018717097 1.3155063355496304 0.1883397894972054 1.0 0.619250109103629 21 Q9UM00,P12955,Q9UBM7 3 |
| Ectopia lentis 0.5869128132935982 1.3141280077677404 0.1888031303186554 1.0 0.619250109103629 9 Q99496,Q99622,Q96L58 3 |
| Decreased number of peripheral myelinated nerve fibers 0.513665150057801 1.3138587145612393 0.1888937544153801 1.0 0.619250109103629 14 Q9NR77,Q9H0B6,Q9H4A3,P50570 4 |
| Concave nasal ridge 0.9002350075117445 1.3112284123311015 0.1897806059487952 1.0 0.6201221828086428 3 Q15125 1 |
| Chronic pulmonary obstruction 0.6166702260605447 1.310143290467889 0.1901473659028982 1.0 0.6201221828086428 7 P09601,P06280 2 |
| Elevated circulating alanine aminotransferase concentration 0.6011639599467922 1.3087050602752477 0.1906342769624869 1.0 0.6201221828086428 8 P38571 1 |
| Dilated fourth ventricle 0.3935803579148175 1.3075495257306349 0.1910261463168894 1.0 0.6201221828086428 39 Q15125,O43505,Q9UBM7 3 |
| Profound sensorineural hearing impairment 0.6994069853512245 1.3066190897392091 0.1913421099947252 1.0 0.6201221828086428 5 P55011,Q9NR77 2 |
| Macroorchidism 0.6993849690282666 1.3065295933347 0.1913725220426738 1.0 0.6201221828086428 5 Q9BZI7,P21359 2 |
| Ichthyosis 0.4221353738709453 1.3055600781139685 0.1917022039566802 1.0 0.6201221828086428 32 Q9BTV4,P51648,P50402,P40855,P56589,Q15125,P04062 7 |
| Abnormal patella morphology 0.4610539751055714 1.3054662382417468 0.1917341361976217 1.0 0.6201221828086428 23 Q6ZXV5,Q96AY3,Q15125,Q9Y619 4 |
| Aplasia hypoplasia involving the metacarpal bones 0.4700231906852034 1.3050821893339355 0.1918648628047106 1.0 0.6201221828086428 21 Q32P28,Q14739,Q96L58,Q9H1A4 4 |
| Muscle stiffness 0.4739704237907869 1.3047749624944334 0.1919694870925117 1.0 0.6201221828086428 20 Q15392,P07602,P46020 3 |
| Motor neuron atrophy 0.4699276371283341 1.3044577209255914 0.1920775658590672 1.0 0.6201221828086428 21 Q13510,Q99720 2 |
| Talipes equinovarus 0.3560898606040955 1.2999902657662628 0.1936043054761906 1.0 0.6226687442191754 73 O75845,Q9UM00,Q99622,P52788,Q15392,O94979,Q92890,Q6ZXV5,Q96AY3,Q9Y619,Q9ULH0,Q9Y487,P10412,Q9NR77,Q15125,Q96L58 16 |
| Progressive spasticity 0.5051270218202052 1.299676909460579 0.1937117275695987 1.0 0.6226687442191754 15 P07602 1 |
| Abnormality of the thoracic cavity 0.5838413548009138 1.2993567019617729 0.1938215435330965 1.0 0.6226687442191754 9 Q99496,O15460,P01889,Q01844 4 |
| Parkinsonism 0.4349236965221479 1.2973188087044845 0.1945215153962554 1.0 0.6226687442191754 28 P07602,Q99720,O96008,P04062,O75165 5 |
| Limb undergrowth 0.3804124358125885 1.2967143735015767 0.1947294819176748 1.0 0.6226687442191754 49 Q96HY6,Q14739,Q15392,Q9UBM7,Q9UBN7,Q13426,O60762,Q15125,P48735 9 |
| Abnormal circulating fatty acid concentration 0.4928116534700417 1.2955474800312847 0.1951314333793772 1.0 0.6230776879045142 17 Q9Y4U1,P40855,O43772,P56589 4 |
| Pruritus 0.4593791095034521 1.294109165164057 0.1956277162110711 1.0 0.6242240179731512 23 O95342,P38571,Q14739 3 |
| Abnormal lung development 0.3871737228785272 1.2894765900151373 0.197232449756016 1.0 0.6284624730487772 44 Q14739,Q9UBM7,O75844,Q6NUK1,Q96L58 5 |
| Neurofibrillary tangles 0.8940013633265141 1.2887773795481328 0.1974754922410508 1.0 0.6287962627591446 3 O15118,P61916 2 |
| Vertebral segmentation defect 0.4304327575597024 1.2866501475787495 0.1982162563785781 1.0 0.6306212589338127 29 Q15125,O60826,Q9Y619 3 |
| Diaphragmatic weakness 0.6938030936637762 1.2838351313192815 0.1991996484160625 1.0 0.6311934889561431 5 Q9NR77 1 |
| Hypercholesterolemia 0.5520110004522784 1.278848028142474 0.200950577244112 1.0 0.6339581892947921 10 P38571 1 |
| Flared iliac wing 0.7901294381758432 1.2779379959140238 0.2012712895049335 1.0 0.6339581892947921 4 P16278 1 |
| Abnormal cellular phenotype 0.3498794044883741 1.2770752415497322 0.2015756847810064 1.0 0.6341300978256323 172 Q99496,P07602,O75503,Q14739,Q14108,P02786,O43772,O43676,O75844,P15586,Q4J6C6,Q13510,O14773,P04062 14 |
| Prominent occiput 0.5180952955057645 1.2759217772912517 0.2019831719935094 1.0 0.6346281985391172 12 O60826,Q96L58 2 |
| Premature loss of primary teeth 0.8886032099221313 1.269345193284462 0.2043179743243308 1.0 0.6359257603299839 3 P51798 1 |
| Premature skin wrinkling 0.4753431069003163 1.2683449117510823 0.2046748050679601 1.0 0.6359257603299839 19 O75844,Q6NUK1,Q9Y487,P41227 4 |
| Abnormality of cranial sutures 0.34923348117374 1.2673974769092675 0.2050132015234744 1.0 0.6359257603299839 78 O75845,Q969N2,Q9UM00,Q00577,Q92890,Q96AY3,P40855,Q32P28,P41227,O75844,P51798,Q9Y487,Q9H4A3,Q6NUK1,Q9Y619,Q04721,P39019,Q96L58 18 |
| Ureteral obstruction 0.6893390800334924 1.2656808565704163 0.2056273647343831 1.0 0.6359257603299839 5 Q969N2,Q9UBM7 2 |
| Generalized osteosclerosis 0.8873832568547086 1.2649550922670254 0.2058874265053631 1.0 0.6359257603299839 3 Q15392 1 |
| Phenotypic variability 0.3274761297541881 1.2643957866090998 0.2060880044233153 1.0 0.6359257603299839 93 P07602,Q00577,P41227,Q9H061,O60762,Q13510,Q9NR77,Q15125 8 |
| Impaired mastication 0.6338759088351462 1.2639421410285414 0.2062507947936511 1.0 0.6359257603299839 6 P01889 1 |
| Ambiguous genitalia male 0.8866224403928145 1.2622175290111877 0.2068705228561898 1.0 0.6359257603299839 3 Q15392 1 |
| Hyporeflexia of lower limbs 0.5755821837769537 1.259601769574233 0.2078130568568919 1.0 0.6359257603299839 9 Q9NR77 1 |
| Eeg with generalized slow activity 0.5905904514860769 1.2593602385918838 0.2079002442900284 1.0 0.6359257603299839 8 O75503 1 |
| Delayed cranial suture closure 0.4297311520203167 1.2585062544404115 0.2082087267053549 1.0 0.6359257603299839 28 P40855,Q32P28,P41227,O75844,P39019 5 |
| Abnormal bleeding 0.3152456963257243 1.258046583898418 0.2083749095903573 1.0 0.6359257603299839 100 Q99496,P49257,Q14739,P12955,Q14108,P11117,Q6ZXV5,Q9Y4U1,O15460,O75844,P51798,P05165,P04062,P01889,Q96L58 15 |
| Metaphyseal widening 0.4920633187354536 1.2559192032848696 0.2091452654029333 1.0 0.636033595065438 16 Q14739,P16278,Q96L58 3 |
| Depression 0.3188167632444614 1.2556935372043372 0.2092271032828185 1.0 0.636033595065438 97 P07602,P20700,O95342,Q15165,P50897,P04062,P01889,P15289,P06280 9 |
| Focal motor seizure 0.4662338969883631 1.2550526431853395 0.209459650192255 1.0 0.636033595065438 20 O75503,P52788,Q01105 3 |
| Short nose 0.3207104277703535 1.2527477794156552 0.210297511644758 1.0 0.636033595065438 96 O75845,Q9UM00,Q6NUK1,P12955,Q15392,P20700,Q9UBN7,O75844,O60826,Q9H490,P42892,P04062,Q5KU26,Q96L58 14 |
| Underdeveloped supraorbital ridges 0.5129619162278485 1.2478460609142246 0.2120874369232956 1.0 0.636033595065438 12 P40855,Q6NUK1,P56589 3 |
| Thoracic kyphosis 0.5070269529366287 1.2446119998851806 0.2132744072566241 1.0 0.636033595065438 13 P51648,P04062 2 |
| Abnormality of the adrenal glands 0.3647087600462897 1.243895380617949 0.2135380697174858 1.0 0.636033595065438 54 Q99496,O96011,P21359,P40855,Q8WWQ0,O15160,P38571,O75844,O60826,Q9H4A3,P56589,Q13423,Q13428,P33991,P48735,Q9Y697 16 |
| High myopia 0.5719513387745306 1.2421114093304837 0.2141954595653259 1.0 0.636033595065438 9 P52788,O15460 2 |
| Cerebral cortical atrophy 0.314109636104275 1.2412664871347383 0.2145073205381154 1.0 0.636033595065438 100 O75503,P55011,Q9NZJ4,Q9Y296,Q9Y4A5,Q5KU26,O75165,Q9UM00,Q16851,O96008,Q86SZ2,Q7LGA3,O75175,Q96QK1,P04062,Q9Y263,Q01433,Q9Y4U1,P51572,Q9Y619 20 |
| Abnormal thorax morphology 0.3551297952693301 1.2403182170204103 0.2148577169887278 1.0 0.636033595065438 218 Q9BTV4,P61353,Q92890,P42766,P55011,P62847,Q9Y296,O75844,P15586,O60826,Q9Y487,Q15125,Q07020,P04066,Q9UM00,Q14739,P51648,P16278,P18077,P21359,Q9UBM7,O75340,P54802,P61313,P62081,Q13510,Q96L58,P50570,Q969N2,Q96HY6,P46777,P52788,Q6NW34,Q7LGA3,Q6ZXV5,Q9UBN7,P11166,Q32P28,O75175,Q9H490,P04062,Q9Y263,P39019,Q99496,O75845,P50402,Q9UGU0,Q9Y4L1,Q96AY3,P41227,P51798,P62244,Q9BZI7,Q9Y619,Q04721,P61254 56 |
| Encephalopathy 0.3198402082069554 1.240295463876701 0.2148661295959377 1.0 0.636033595065438 96 P07602,O43772,O43676,Q05682,P04062,Q5KU26 6 |
| Pectus carinatum 0.3961641014125364 1.2361313316888396 0.2164097502314121 1.0 0.636033595065438 36 P52788,P16278,P55011,Q96AY3,Q9BZI7,Q9Y619 6 |
| Normochromic anemia 0.4503402157100578 1.232770128611368 0.2176615390209992 1.0 0.636033595065438 23 O75533,P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62244,P39019,Q07020 11 |
| Waddling gait 0.4498146559403042 1.229201760179696 0.2189961691446091 1.0 0.6370598954338846 23 Q9BTV4,P50402,Q9Y6X9,O75340,Q14204,Q4J6C6,Q13510,Q8TD16 8 |
| Dysarthria 0.3404181956053779 1.2281954746698285 0.2193735970759278 1.0 0.6370598954338846 153 P07602,O75503,P52788,Q14108,Q9H0B6,O15118,P15586,P15289,O14773,P04062,P07686,P61916,Q8IV08 13 |
| Gastrostomy tube feeding in infancy 0.419296706611924 1.2263477777660736 0.2200678290232638 1.0 0.6370598954338846 30 Q99720,Q9H7D7,O60762,Q9H490,P37268,Q01105 6 |
| Short chin 0.5682801274365418 1.2244198952412917 0.2207938678500611 1.0 0.6370598954338846 9 O75844 1 |
| Cerebral hypoplasia 0.4978012290785761 1.224076681622722 0.2209233016770337 1.0 0.6370598954338846 14 O60762,Q9UBM7,Q6UVJ0 3 |
| Eyelid myoclonus 0.568180708960798 1.2239407172048211 0.2209745920574346 1.0 0.6370598954338846 9 Q13510 1 |
| Vascular neoplasm 0.4037649777127304 1.2236720750336625 0.2210759580723746 1.0 0.6370598954338846 34 Q9UBM7,O60762,O60826,P10619,P48735,P50570 6 |
| Thick vermilion border 0.3423821306134964 1.221671227759514 0.2218319810377931 1.0 0.6370598954338846 81 Q99496,O75845,Q01105,Q99622,P52788,O94979,P41227,P15586,Q10471,Q9BZI7,Q9Y619,P04066,P06280 13 |
| Abnormal protein glycosylation 0.5027571940604115 1.220847693476092 0.2221436920470767 1.0 0.6370598954338846 13 Q8N511,Q9BT22,Q9Y487,O60762,Q10471 5 |
| Diminished motivation 0.4528512583844256 1.2196212737436982 0.222608478006649 1.0 0.6370598954338846 22 P06865,P35610 2 |
| Abnormality of skin physiology 0.3222962077983466 1.2187194655299394 0.2229506872398108 1.0 0.6370598954338846 94 Q14739,P12955,Q9UBM7,Q96BN8,O95342,P02786,Q92890,P05165,P38571,P53634,Q06136,Q92542,P26038,Q15125,P01889,P50851 16 |
| Impaired oropharyngeal swallow response 0.8381601362862194 1.216337052282983 0.2238565523890558 1.0 0.6370598954338846 2 Q9NR77 1 |
| Abnormal number of erythroid precursors 0.4430331802659842 1.2155837436958046 0.2241435298754641 1.0 0.6370598954338846 24 O75533,P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62244,P39019,Q07020 11 |
| Exercise induced muscle cramps 0.5956627025692443 1.2149439389127556 0.2243874738671896 1.0 0.6370598954338846 7 P13473 1 |
| Osteopetrosis 0.8731089487167097 1.213637942670094 0.2248860113957227 1.0 0.6370598954338846 3 Q15392 1 |
| Cerebellar vermis atrophy 0.5065226972824651 1.2126069465305316 0.2252801317676311 1.0 0.6370598954338846 12 Q9NZJ4,Q13426,Q14671,Q8WVX9,Q13620,Q10713 6 |
| Brushfield spots 0.8725289706884773 1.2115551423228346 0.2256827145319957 1.0 0.6370598954338846 3 P40855,P56589 2 |
| Abnormality of the frontal hairline 0.3492293373296046 1.2113781508648396 0.2257505092578089 1.0 0.6370598954338846 72 P61353,P42766,P62847,Q13428,Q07020,Q9UM00,P18077,P61313,Q16851,P62081,P46777,P12955,O60934,Q7LGA3,Q9UQE7,Q6NW34,Q13426,Q6NUK1,P39019,O15160,P62244,Q04721,P61254 23 |
| Very long chain fatty acid accumulation 0.7724706563778011 1.2112175810019987 0.2258120264398275 1.0 0.6370598954338846 4 P40855,P56589 2 |
| Tremor by anatomical site 0.4423572497132653 1.210903599321576 0.2259323530039623 1.0 0.6370598954338846 24 Q9NR77,Q99720 2 |
| Fetal onset 0.6216008036338513 1.2107621337120436 0.2259865815352679 1.0 0.6370598954338846 6 Q99496,Q9Y285 2 |
| Abnormality of facial soft tissue 0.3185346441931099 1.2058162438521869 0.227888350780564 1.0 0.6400844003768926 111 P10253,Q00577,Q9H1B7,O75844,O60826,Q8N1F7,O75165,P12235,Q9UBM7,O75340,P31150,P40855,Q13510,P56589,P50570,Q96QK1,P04062,Q9Y263,Q99496,Q01433,Q9Y5K6,P51798,P52565,O96011,Q9BZI7,Q9H1A4 26 |
| Gingival bleeding 0.5052452400403689 1.2056139311676692 0.227966385094775 1.0 0.6400844003768926 12 Q14108,P04062 2 |
| Tetraplegia tetraparesis 0.375698157249635 1.2050531291519642 0.2281827923609394 1.0 0.6400844003768926 46 P07602,P20700,Q13423,P51572,P15289 5 |
| Otitis media 0.3688633909952629 1.2005805744548932 0.2299139400561829 1.0 0.641771015567194 50 Q99496,Q14739,Q9UBM7,Q92890,O60934,Q9H7D7,P41227,P51798,O95394,P50851,Q9H1A4 11 |
| Diminished movement 0.4540478567612718 1.200565671796743 0.2299197238528609 1.0 0.641771015567194 21 O95831,P12235,P13473,Q96QK1,P04062,O75165 6 |
| Hyporeflexia 0.3169516434375573 1.2000862382835 0.2301058496322792 1.0 0.6418965020110268 109 P07602,Q99720,P54802,Q9H0B6,O43505,P35610,Q9NR77,P04062,P15289 9 |
| Abnormal larynx morphology 0.4243885297444053 1.1987548789495412 0.2306232720499794 1.0 0.6421778284948935 27 Q14739,P07602 2 |
| Arachnodactyly 0.4042751153800935 1.1940897706059883 0.2324428542380845 1.0 0.6435978884971094 33 P12955,P52788,Q9Y285,Q9BZI7,Q96L58 5 |
| Aganglionic megacolon 0.4697172766430403 1.1928868928164291 0.2329136731746728 1.0 0.6435978884971094 18 P42892 1 |
| Abnormal t cell morphology 0.5078204649538782 1.1927164166225637 0.2329804540282036 1.0 0.6435978884971094 11 Q96BN8,O60934 2 |
| Hypopigmented skin patches 0.4394595967086815 1.1908389216538189 0.2337168260140747 1.0 0.6451285812511084 24 P07602 1 |
| Developmental glaucoma 0.4336066798466142 1.1851221267085987 0.2359691637455521 1.0 0.6483568812369944 25 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62081,P62244,P39019,Q07020 11 |
| Chromosome breakage 0.5333802682708114 1.1841313786817784 0.2363610605819568 1.0 0.6486021378793951 10 Q99496,P33991 2 |
| Tinnitus 0.5057768794669856 1.181708935480181 0.237321211610292 1.0 0.6498979543049156 11 Q9NR77 1 |
| Pericarditis 0.614894498445046 1.181699309635086 0.237325032365147 1.0 0.6498979543049156 6 P01889 1 |
| Abnormality of the metaphysis 0.3703296027233247 1.1814978859692638 0.2374049927645622 1.0 0.6498979543049156 48 Q96HY6,Q14739,P16278,Q9UBN7,Q9H7D7,P51798,P48735,Q96L58,Q9H1A4 9 |
| Pain 0.3441199888917503 1.1801163513976702 0.2379539420833127 1.0 0.6508802351337944 174 Q9BTV4,P07602,P20700,P46020,Q14108,Q92890,O75844,Q8WVX9,Q8N1F7,P42892,P06280,Q14739,Q13510,Q9NR77,P07686,P50570,Q96HY6,O95342,O15460,P04062,P48735,Q99496,P50402,Q8IUX1,Q96BN8,Q9Y5K6,Q15165,P51798,Q13423,P52565,P35637,P01889 32 |
| Focal onset seizure 0.3420596385279948 1.1794207671638717 0.2382306697431671 1.0 0.6508802351337944 78 Q99496,P07602,O75503,P52788,Q96N66,Q00577,Q6ZXV5,P55011,Q9Y3C6,Q10471,Q01105 11 |
| Patent ductus arteriosus 0.3378402611898518 1.1790260295315942 0.238387811146852 1.0 0.6508802351337944 82 Q9UM00,Q6NUK1,Q9UBM7,Q15392,Q6ZXV5,P40855,O75844,O60826,P42892 9 |
| Chronic mucocutaneous candidiasis 0.5732887927585978 1.178505404242031 0.2385951791303742 1.0 0.6508802351337944 8 P02786 1 |
| Pneumonia 0.3763326851758661 1.1784363692325088 0.238622685719823 1.0 0.6508802351337944 43 P12955,O60934,P16278,P20700,Q13510,Q6NUK1,P04062 7 |
| Esophageal varix 0.6127816219455087 1.1725429505561606 0.2409791386184043 1.0 0.6508967850027984 6 P38571 1 |
| Disproportionate tall stature 0.4153106195515571 1.1718674860244414 0.2412502627501931 1.0 0.6508967850027984 29 P52788,Q7LGA3,P55011,Q9Y296,O75175,Q9BZI7 6 |
| Abnormal iliac wing morphology 0.5038930856627434 1.171561661403106 0.2413730880393707 1.0 0.6508967850027984 11 P16278,Q96L58 2 |
| Oval face 0.6123004474858177 1.1704577855434253 0.2418167928740229 1.0 0.6513868229847051 6 Q9Y4L1,Q96L58 2 |
| Congenital malformation of the great arteries 0.3086158658008994 1.169838492085732 0.2420659701422409 1.0 0.6516719752733983 99 Q9UM00,Q6NUK1,Q9UBM7,Q15392,Q6ZXV5,P40855,O15460,O75844,O60826,P42892,P01889 11 |
| Metaphyseal striations 0.7610429710838253 1.1680942034503876 0.2427687682229584 1.0 0.6527265351533801 4 Q9H1A4 1 |
| Brain imaging abnormality 0.4083865789434923 1.167797781005692 0.2428883434087352 1.0 0.6527265351533801 31 Q99496,Q00577,P07602,Q9BT22,P35610 5 |
| Abnormal circulating long chain fatty acid concentration 0.7605002647948373 1.166047816940183 0.2435951130709814 1.0 0.6537322483997811 4 P40855,P56589 2 |
| Wide intermamillary distance 0.4445736140374551 1.1644450221457954 0.2442437111339952 1.0 0.6537322483997811 22 P52788,Q9UBM7 2 |
| Abnormal morphology of the musculature of the neck 0.4872653860763482 1.164382618444158 0.2442689883508308 1.0 0.6537322483997811 14 Q99720,P41227,Q01082,P35637,Q9H269,Q96L58 6 |
| Fatigue 0.336628052585587 1.163737174820884 0.2445305392219579 1.0 0.6538715067265606 82 Q14739,P07602,Q15165,Q4J6C6,Q13423,P04062,P06280 7 |
| Hypoplastic fingernail 0.4870465254224883 1.1631424938780883 0.2447716936623183 1.0 0.6539229677335848 14 Q14739 1 |
| Eeg with abnormally slow frequencies 0.4809044759222752 1.1600097076161946 0.2460448537391288 1.0 0.6540731959358085 15 O75503 1 |
| Telangiectasia of the skin 0.447771059148783 1.15946951359562 0.2462648562681271 1.0 0.6540731959358085 21 P06280 1 |
| Leukoencephalopathy 0.324960491364906 1.157524691481847 0.2470580573230729 1.0 0.6540731959358085 90 P07602,O75503,Q01433,O43676,Q9Y285,Q01105,P15289 7 |
| Pallor 0.3644367989101508 1.1565975151115375 0.2474368379693494 1.0 0.6540731959358085 50 O75533,P46777,P61353,P18077,P21359,P42766,P61313,P62847,P11166,P61254,P06865,Q9H061,P51798,P35610,P62244,P39019,Q07020 17 |
| Hypoplasia of the odontoid process 0.7578679479282082 1.156124475170723 0.2476302461925699 1.0 0.6540731959358085 4 P36776,P16278 2 |
| Abnormality of the middle ear 0.3208365966035721 1.155909639896257 0.2477181191845099 1.0 0.6540731959358085 121 Q6P2Q9,Q92890,Q86Y56,P55011,Q9Y296,O75844,Q9NSV4,O95394,Q13428,O43837,Q14739,Q9UBM7,P21359,P36776,Q9H7D7,Q96L58,P12955,Q9UQE7,O60934,Q7LGA3,Q13045,O15460,O75175,Q6NUK1,Q99496,O95831,O75845,Q9UGU0,O15160,P41227,Q01082,P51798,Q10471,Q04721,P01889,P50851,Q9H1A4 37 |
| Microcornea 0.4159355780598098 1.155315557714737 0.2479612272541604 1.0 0.6540731959358085 28 O75845,Q15125,O43505,Q96L58 4 |
| Abnormal tongue physiology 0.4635934834037029 1.155259655523876 0.247984111929612 1.0 0.6540731959358085 18 P10253,Q13510 2 |
| Facial hemangioma 0.7575647254421662 1.1549816428712891 0.248097943899975 1.0 0.6540731959358085 4 Q9UBM7 1 |
| Abnormality of lower limb joint 0.3370460707797836 1.1548877134034634 0.2481364114777369 1.0 0.6540731959358085 157 P07602,O94979,Q92890,P55011,O75844,Q9Y487,Q9H4A3,Q15125,Q99622,P16278,Q9UBM7,Q16851,Q86XL3,Q13510,Q6NUQ1,Q9NR77,Q96L58,Q96HY6,P12955,Q6NW34,Q7LGA3,Q6ZXV5,P37268,Q96AY3,Q15041,P51798,O60762,Q9Y619,Q9H1A4 29 |
| Abnormality of the larynx 0.3690301502508508 1.1544370409377165 0.2483210365040147 1.0 0.6541806216591859 47 Q14739,P07602,Q9UBM7,Q13510 4 |
| Papule 0.4505034782858896 1.1538423463576384 0.2485648094880681 1.0 0.6542832352013022 20 O75844,P01889 2 |
| Petechiae 0.5266993830372751 1.1501419388477374 0.2500854153321199 1.0 0.655962084643848 10 P04062,P51798 2 |
| Abnormality of long bone morphology 0.3391064871381389 1.149576092009762 0.2503185098928484 1.0 0.655962084643848 164 P55011,Q9Y296,O75844,Q9H4A3,Q15125,Q14739,Q99622,P16278,Q9UBM7,Q16851,P40855,Q9H7D7,P56589,Q9NR77,Q96L58,Q96HY6,P12955,Q6NW34,Q7LGA3,Q9UBN7,Q32P28,O75175,Q9H490,P48735,P37268,P39019,Q96AY3,P51798,O96011,Q9Y619,Q9H1A4 31 |
| Polydactyly 0.3752869198461599 1.147963047151173 0.2509838190352389 1.0 0.655962084643848 40 O75845,Q9UM00,Q14739,Q9UBM7,O60826,Q15125 6 |
| Abnormal spermatogenesis 0.4895978069036438 1.147575621687288 0.2511437984110669 1.0 0.655962084643848 13 P04062 1 |
| Multifocal cerebral white matter abnormalities 0.6602545906594157 1.1474045845582508 0.2512144473111988 1.0 0.655962084643848 5 Q9Y619 1 |
| Abnormal lung lobation 0.4895275247656695 1.1471842840540143 0.2513054654606517 1.0 0.655962084643848 13 Q14739 1 |
| Intracranial hemorrhage 0.437548079066515 1.1458979029424183 0.2518373990474325 1.0 0.6569734099074445 23 P49257,Q99496,Q9Y4U1,O75844,P04062 5 |
| Abnormal heart valve morphology 0.3401237942789759 1.144999860730606 0.2522092150670683 1.0 0.6571892841890885 77 P16278,Q6ZXV5,P51798,O75844,O60826,Q6NUK1,P04062,P01889,Q96L58,P06280 10 |
| Abnormal oral physiology 0.3549932968841451 1.142834083352557 0.2531074847427881 1.0 0.658398016662161 54 Q9BZI7,Q14739,P55011,Q15165,P15586,Q9NR77,P01889 7 |
| Lumbar hyperlordosis 0.477325465119896 1.1393636419984987 0.2545515139530856 1.0 0.6606425422058677 15 P41227,P04066 2 |
| Atrophic scars 0.6578913154489306 1.1378026435398167 0.2552029008804188 1.0 0.6619552711370591 5 Q96L58 1 |
| Abnormal tracheobronchial morphology 0.3562835024044113 1.1335381596196166 0.2569883257454746 1.0 0.6636997604991964 53 P46777,Q14739,Q96HY6,Q9UBM7,O60934,P55011,Q9H7D7,Q13045,Q9Y4A5,O95394,Q15125,Q96L58,P50851 13 |
| Advanced eruption of teeth 0.4919887458996393 1.1330337284574965 0.2572000895486606 1.0 0.6637280403960043 12 O75844 1 |
| Upper eyelid coloboma 0.8170357751277777 1.1322996905989715 0.2575084601534467 1.0 0.6637703902027904 2 Q6NUK1 1 |
| Aplasia hypoplasia of the skin 0.3537882468857494 1.130312576323509 0.2583445371099231 1.0 0.6645807445753513 54 P12955,Q15392,Q9Y619,Q6ZXV5,P53634,O75844,Q15125,Q96L58 8 |
| Spastic hyperactive bladder 0.6028840522042846 1.1296602407440537 0.2586194166958626 1.0 0.6645807445753513 6 P04062,O75165 2 |
| Hemifacial spasm 0.816354344122677 1.1295986175593105 0.2586453937989419 1.0 0.6645807445753513 2 Q99496 1 |
| Hand polydactyly 0.4119318821795797 1.1253738387830283 0.2604306521700961 1.0 0.6651229076808186 28 Q9UM00,Q14739,Q9UBM7,O60826,Q15125 5 |
| Lens subluxation 0.8143100511073451 1.1214995796647056 0.2620752703383635 1.0 0.6651229076808186 2 Q99496 1 |
| Metamorphopsia 0.8143100511073451 1.1214995796647056 0.2620752703383635 1.0 0.6651229076808186 2 Q99496 1 |
| Uveal melanoma 0.8143100511073451 1.1214995796647056 0.2620752703383635 1.0 0.6651229076808186 2 Q99496 1 |
| Mydriasis 0.8143100511073451 1.1214995796647056 0.2620752703383635 1.0 0.6651229076808186 2 Q99496 1 |
| Ocular pain 0.8143100511073451 1.1214995796647056 0.2620752703383635 1.0 0.6651229076808186 2 Q99496 1 |
| Photopsia 0.8143100511073451 1.1214995796647056 0.2620752703383635 1.0 0.6651229076808186 2 Q99496 1 |
| Inferior lens subluxation 0.8143100511073451 1.1214995796647056 0.2620752703383635 1.0 0.6651229076808186 2 Q99496 1 |
| Choroidal melanoma 0.8143100511073451 1.1214995796647056 0.2620752703383635 1.0 0.6651229076808186 2 Q99496 1 |
| Abnormal ciliary body morphology 0.8143100511073451 1.1214995796647056 0.2620752703383635 1.0 0.6651229076808186 2 Q99496 1 |
| Abnormal number of granulocyte precursors 0.814310051107324 1.1214995796646217 0.2620752703383993 1.0 0.6651229076808186 2 Q07020 1 |
| Abnormal nasal bridge morphology 0.346201334747638 1.1205047943299622 0.2624987106977234 1.0 0.6651229076808186 258 Q00577,P61353,Q5SRE5,P20700,P42766,P55011,P62847,Q92890,P61254,Q8WWQ0,Q9Y296,Q9Y3B2,Q9Y487,P15586,O60826,Q9Y4A5,Q8WVX9,P42892,Q13428,Q15125,Q5KU26,Q10713,Q07020,O43837,Q14739,P16278,P18077,P21359,Q9UBM7,O75340,P31150,Q16851,P36776,Q14004,P40855,P62081,P11233,Q9H7D7,P56589,Q96L58,Q969N2,P46777,P52788,Q15392,P12955,O60934,Q6NW34,Q7LGA3,P11166,P61313,P13073,Q13045,O75175,Q13426,Q4J6C6,Q9H490,Q6NUK1,P04062,P37268,P39019,Q99496,O75845,Q9UGU0,O96011,Q9Y4L1,P62244,O15160,P41227,O60762,Q10471,Q9BZI7,Q04721,Q01105 73 |
| Pace of progression 0.3320756364852706 1.120125316834108 0.2626603635312219 1.0 0.6651229076808186 150 Q86SZ2,P50402,P20700,Q99720,Q14108,P54802,Q9H0B6,Q9NQZ5,Q05682,P15586,O60762,Q9H4A3,Q13510,O14773,Q9NR77,P52565,P04062,Q8IV08 18 |
| Inability to walk 0.3388725859543632 1.120075752846852 0.262681482265984 1.0 0.6651229076808186 76 O75503,P52788,Q99720,Q13510,Q9NR77 5 |
| Abnormal saccadic eye movements 0.4370429385078005 1.114257005265728 0.2651689461834294 1.0 0.6691027737491975 22 O14773,P04062,Q8IV08 3 |
| Midline defect of the nose 0.8109028960817702 1.1080155725371168 0.2678550905968624 1.0 0.6709907733962182 2 P21359 1 |
| Squared iliac bones 0.8109028960817697 1.1080155725371144 0.2678550905968635 1.0 0.6709907733962182 2 Q6NW34 1 |
| Macrocytic anemia 0.3855157270269956 1.1075071135968035 0.2680747384329542 1.0 0.6709907733962182 35 Q6P4A7,P46777,P61353,P18077,P61313,P42766,Q9Y4U1,P62847,P61254,P62081,Q99707,P62244,P39019,Q07020 14 |
| Abnormal femoral head morphology 0.4558036791677208 1.1074088266127835 0.2681172114370889 1.0 0.6709907733962182 18 O95831,P16278,Q7LGA3,Q6NUQ1,Q96L58 5 |
| Aplasia of the fingers 0.4118368426828309 1.1062088789588262 0.2686361206576615 1.0 0.6718858309298058 27 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62244,P39019,Q07020 10 |
| Mediastinal lymphadenopathy 0.8428766189502348 1.1054005380338612 0.268986070743745 1.0 0.6720221839225952 3 P01889,O15460 2 |
| Lower limb hypertonia 0.4867598752812291 1.1044136004790062 0.2694137637274036 1.0 0.6724794893913688 12 Q9ULH0,Q14739,Q8WVX9 3 |
| Azoospermia 0.4909554480800189 1.101882073182669 0.2705129431537458 1.0 0.6743543599342557 11 P04062 1 |
| Focal dystonia 0.4350908705108163 1.1012532129533184 0.2707864678830933 1.0 0.6743985181092521 22 Q99720,Q9NQZ5,O15160,P41227,Q01082,Q13428,P35637,Q9H269,Q96L58 9 |
| Spastic tetraplegia 0.3757279358897491 1.1008420424707188 0.2709654102242682 1.0 0.6743985181092521 37 P09543,P16278,O94979,Q9Y320,P08243,Q9Y3C6,Q14204,Q01082,Q86XL3,Q9UEY8,P04066,P15289 12 |
| Congenital contracture 0.3679593070344159 1.1008186142902203 0.2709756086618877 1.0 0.6743985181092521 43 Q96AY3,P04062,O75844,Q15392 4 |
| Macular atrophy 0.5954332250054699 1.0973989935703723 0.272467013188965 1.0 0.6766288962153053 6 P04062 1 |
| Chronic constipation 0.4211265677205474 1.0969675223193942 0.272655589730566 1.0 0.6767276018039758 25 Q16851,P20700,Q7LGA3,P55011,Q8WVX9,Q9BZI7,P04062,O75165 8 |
| Progressive 0.3055151049063192 1.095686593981389 0.273215951454079 1.0 0.67755236702603 102 Q99720,P54802,Q9H0B6,Q05682,P15586,Q13510,P04062 7 |
| Hypoplasia of the brainstem 0.434180015913814 1.0951866968901296 0.2734348525885497 1.0 0.67755236702603 22 Q96EK5,Q9Y320,Q6ZXV5,Q9Y3C6,O43505,Q10713 6 |
| Impaired vibratory sensation 0.402151455265319 1.094211520833246 0.2738622197948581 1.0 0.67755236702603 30 O14773,Q9NR77,Q9Y619,Q9H0B6 4 |
| Gonosomal inheritance 0.3412597373203719 1.0926608762051746 0.2745427235357662 1.0 0.67755236702603 65 P50402,P13473,P52788,P46020,Q9UBN7,P41227,O60826,P51572,Q9BZI7,Q15125,P06280 11 |
| Osteolysis 0.4075158385939878 1.0923659583358627 0.27467227947785 1.0 0.67755236702603 28 Q14108,P53634,O75844,Q9H4A3,P04062 5 |
| Oromandibular dystonia 0.8391274710293068 1.092036286925192 0.2748171518894766 1.0 0.67755236702603 3 P35637,Q99720 2 |
| Unilateral renal agenesis 0.4374494050862645 1.0919161436721696 0.2748699611955234 1.0 0.67755236702603 21 Q13426,Q7LGA3,Q9UBM7,Q6UVJ0 4 |
| Excessive salivation 0.4091986828830426 1.086773265072244 0.2771370258074825 1.0 0.6807898737691104 27 Q9NR77,P15586,Q9BZI7 3 |
| Abnormal cortical bone morphology 0.463077092590102 1.0853327046766954 0.277774325869951 1.0 0.6815222208520463 16 P40855,P51798,Q86XL3,Q9H4A3,Q6UVJ0 5 |
| Tachycardia 0.451997395980528 1.0840416326475717 0.2783463400121833 1.0 0.6815222208520463 18 P41227,P42892,O43772 3 |
| Abnormality of the distal phalanges of the toes 0.6438638535817567 1.0808724936380067 0.2797538357004399 1.0 0.6817198799820235 5 O75844 1 |
| Slowly progressive 0.3567694582104623 1.0805212746831785 0.2799101182528609 1.0 0.6817198799820235 50 Q9BTV4,P50402,Q99720,Q9H4A3,O14773,Q9NR77,Q8IV08 7 |
| Pineal cyst 0.6423704121843162 1.0748193573462637 0.2824556121685289 1.0 0.6849207860816489 5 Q10471 1 |
| Abnormal pineal morphology 0.6423704121843162 1.0748193573462637 0.2824556121685289 1.0 0.6849207860816489 5 Q10471 1 |
| Acanthocytosis 0.7361396264148825 1.0744016267926393 0.2826427136983562 1.0 0.6849207860816489 4 Q05682 1 |
| Hypertrophic cardiomyopathy 0.3059115623764447 1.0736682180016124 0.2829714107088767 1.0 0.6851283304010983 105 P13473,P16278,P54802,O43676,Q9H061,P15586,Q13423,P01889,P06280 9 |
| Bundle branch block 0.4855263110287854 1.072662737603628 0.2834224648127725 1.0 0.6854903976083387 11 P06280 1 |
| Poor head control 0.3392179468467134 1.0696374534096966 0.2847825297893156 1.0 0.6865259859711135 65 P06865,P07602,Q5KU26 3 |
| Abnormal heart valve physiology 0.3291376023004916 1.0694812683456465 0.2848528649373869 1.0 0.6865259859711135 82 Q99496,P16278,P61353,Q6ZXV5,O75844,O60826,Q6NUK1,Q15125,P04062,P01889,Q96L58,P06280 12 |
| Abnormal esophagus physiology 0.343758035664981 1.0680944804752863 0.2854778953856636 1.0 0.6865259859711135 210 P07602,P20700,Q99720,Q14108,P55011,P15586,O60826,P06280,Q14739,Q9UBM7,Q13510,Q9NR77,P61916,O15118,P04062,Q99496,Q9Y619,P01889,Q01105 19 |
| Myotonia 0.5356197087682605 1.0669564324150034 0.2859915099970023 1.0 0.6865259859711135 9 Q9BTV4,P50402 2 |
| Long toe 0.5356153742171451 1.066935552871905 0.2860009390121432 1.0 0.6865259859711135 9 P52788 1 |
| Aplasia hypoplasia involving bones of the upper limbs 0.3223559578752957 1.0658955610909486 0.2864708558191329 1.0 0.6865259859711135 136 P61353,P42766,P62847,O75844,O60826,Q07020,Q14739,P18077,Q9UBM7,P61313,P31150,P36776,P62081,P41229,Q13510,Q96L58,Q969N2,P46777,Q9UQE7,Q6NW34,P13073,Q9UBN7,Q32P28,O75175,Q6NUK1,P39019,Q99496,O95831,Q10471,P62244,Q96AY3,P51798,O60762,P42345,Q9BZI7,Q9Y619,Q04721,Q13620,P61254,Q9H1A4 40 |
| Ulnar deviation of finger 0.5623284515877665 1.0637794615686536 0.2874286175526754 1.0 0.6866994110171318 7 Q9UBM7 1 |
| Enlarged posterior fossa 0.3608600455976838 1.0636784346349704 0.2874743970420845 1.0 0.6866994110171318 46 Q9UBM7,O43505,O60826,Q9H490,Q15125 5 |
| Severe global developmental delay 0.3386603486539932 1.0633544830195556 0.2876212261219562 1.0 0.6866994110171318 65 Q99496,Q00577,Q16851,Q7LGA3,P40855,P55011,Q9BT22,Q9H7D7,O75175,O60762,Q9H490,P56589,O96011 13 |
| Abnormal erythrocyte sedimentation rate 0.5617384427389975 1.0611076026618982 0.2886410031735957 1.0 0.6866994110171318 7 P01889 1 |
| Perimembranous ventricular septal defect 0.5867974587099848 1.0600451526083456 0.2891240581249494 1.0 0.6866994110171318 6 Q86W42,Q5SRE5,O94979 3 |
| Abnormality of the liver 0.3386160487324779 1.0597864838429585 0.2892417472037982 1.0 0.6866994110171318 280 Q8N511,P07602,P10253,Q14108,O43772,Q14376,P38571,P15586,P04066,Q14739,P16278,Q9UBM7,P40855,P54802,P11717,O43676,P35610,P09601,Q13510,P56589,P10619,P07686,P61916,P12955,O95342,O15118,P53634,P04062,P15289,Q99496,O75845,Q9Y4U1,P51798,Q9Y285,Q9Y619 35 |
| Hypomethioninemia 0.7986371379897885 1.059636033676234 0.2893102138412926 1.0 0.6866994110171318 2 Q9Y4U1 1 |
| T lymphocytopenia 0.6385138302860283 1.0591967691653288 0.2895101761424767 1.0 0.6866994110171318 5 O60934 1 |
| Neurofibromas 0.731785794226715 1.058077251231896 0.2900202247086798 1.0 0.6870885917954407 4 Q99496,P21359 2 |
| Abnormality of the scrotum 0.3575539162653611 1.0573772929216203 0.2903394304765729 1.0 0.6872323739599049 48 Q96EK5,Q9UM00,Q9UGU0,Q9UBM7,Q7LGA3,Q9Y619,P55011,Q9Y296,P46977,O15160,O75175,Q01082,Q9Y4A5,Q6NUK1,Q13428 15 |
| Male sexual dysfunction 0.5330599698319233 1.054628358802571 0.2915953285876058 1.0 0.6898459724702621 9 Q99496,P07686,Q9NZJ4,P20700 4 |
| Pollakisuria 0.7304185561508265 1.0529551235473975 0.2923615601717455 1.0 0.690939716268673 4 O60934 1 |
| Horseshoe kidney 0.3646332870366945 1.0517816797374744 0.2928997262234387 1.0 0.6910639986793645 40 O75845,P46777,P51532,P61353,P18077,P61313,P42766,P18583,P62847,P61254,P62081,P62244,O60832,P39019,Q07020 15 |
| Periventricular heterotopia 0.5321110489988546 1.0500594108928756 0.2936907985972965 1.0 0.6910639986793645 9 Q6ZXV5,Q9UBM7 2 |
| Abnormal dentin morphology 0.6361703691617207 1.0497102669263694 0.2938513419327595 1.0 0.6910639986793645 5 Q96AY3 1 |
| Abnormality of the pylorus 0.3962220970278139 1.048591057050155 0.2943663735773076 1.0 0.6910639986793645 30 Q9UBM7,Q6ZXV5,P40855,P41227,P56589,Q9BZI7,P50570 7 |
| Abnormal incisor morphology 0.4516992020432624 1.0485482966687452 0.2943860628010841 1.0 0.6910639986793645 17 Q9UGU0,Q00577,Q7LGA3,P55011,Q9BPU6,Q9Y296,Q12830,O75175,Q9H3S7,P21281,P42858 11 |
| Incisor macrodontia 0.4516992020432624 1.0485482966687452 0.2943860628010841 1.0 0.6910639986793645 17 Q9UGU0,Q00577,Q7LGA3,P55011,Q9BPU6,Q9Y296,Q12830,O75175,Q9H3S7,P21281,P42858 11 |
| Nausea and vomiting 0.3205880888151947 1.0467204870410312 0.2952285119943143 1.0 0.6915704588158927 135 Q99496,P07602,Q9UBM7,P11117,O43676,Q15165,P38571,P35610,Q13423,P42892,Q9Y619,P01889,P06280 13 |
| Diastema 0.5585070687501604 1.0464789512773156 0.2953399580550422 1.0 0.6915704588158927 7 Q99496 1 |
| Aplasia hypoplasia of the eyebrow 0.3643954241723072 1.0459165418712886 0.2955995663277067 1.0 0.6917607967535163 39 Q9UM00,Q00577,P52788,P41227,O75844,Q15125,Q9H1A4 7 |
| Aplasia hypoplasia involving the nose 0.4035869677276636 1.045467725646376 0.2958068495608654 1.0 0.691889786498588 27 P41227,O75844,Q5KU26 3 |
| Spontaneous hemolytic crises 0.7942078364565568 1.0422346305612022 0.2973029110102561 1.0 0.6932494032634022 2 P11166 1 |
| Paralysis 0.3542463038353003 1.0396879290310164 0.2984849104928073 1.0 0.6942899166802045 49 Q9BTV4,Q92804,P10253,P50402,P20700,O94979,P21359,P11166,Q9Y6X9,Q15165,P51798,P35637,Q9NR77,P04062 14 |
| Positional foot deformity 0.3161368488647199 1.0390019826794896 0.2988038141685265 1.0 0.6942899166802045 90 O75845,Q9UM00,P52788,Q9UBM7,Q15392,Q9Y619,Q96AY3,Q6ZXV5,O94979,Q9ULH0,Q9NR77,Q15125,Q96L58 13 |
| Delayed ability to stand 0.726565129945998 1.03853048137686 0.2990231519385431 1.0 0.6942899166802045 4 P10253 1 |
| High pitched voice 0.4699144008273794 1.0380805869192131 0.2992325385740457 1.0 0.6942899166802045 13 Q13426,O75844 2 |
| Abnormal motor nerve conduction velocity 0.4384177844065949 1.036408857157581 0.3000114400043649 1.0 0.6956410085159854 19 Q99720 1 |
| Brittle hair 0.4593277392853834 1.035660926214919 0.3003603573812543 1.0 0.6960950790074227 15 Q6NUK1,O75844 2 |
| Abnormality of the nasal dorsum 0.3466974555483683 1.0352897079978012 0.3005336348469392 1.0 0.6961418429185086 53 Q99622,P12955,P16278,O60934,Q9UBN7,O75175,Q13426,O75844,Q6NUK1,Q15125 10 |
| Emg abnormality 0.3327151905270883 1.0301029249261238 0.3029616923441067 1.0 0.6993126040688635 74 P07602,P13473,Q13510,O14773,Q9NR77 5 |
| Amyotrophic lateral sclerosis 0.4533567626213079 1.0282285162072158 0.3038423475253395 1.0 0.6993126040688635 16 Q99720 1 |
| Elevated circulating aspartate aminotransferase concentration 0.5411161171832993 1.0282123561607377 0.3038499474014347 1.0 0.6993126040688635 8 P38571 1 |
| Muscle hypertrophy of the lower extremities 0.5406865505569811 1.0262098013983827 0.3047927023469374 1.0 0.7007014446488015 8 Q9NR77 1 |
| Long hallux 0.7232580758583157 1.026165449679575 0.3048136040280029 1.0 0.7007014446488015 4 P52788 1 |
| Proximal muscle weakness in upper limbs 0.4673191330240193 1.0236711027456646 0.305990648802765 1.0 0.7016336258730068 13 Q9BTV4,P50402,P50570 3 |
| Focal segmental glomerulosclerosis 0.4361579868317199 1.0222482843330931 0.3066634032264037 1.0 0.7028218218097065 19 Q14108,Q9Y5K6,P52565 3 |
| Absent speech 0.3028050571318059 1.0190619710429454 0.3081735468483964 1.0 0.7055855685492483 106 Q9UM00,Q00577,P52788,P20700,Q16851,Q6ZXV5,P55011,Q96N66,P11233,Q9Y3C6,P15586,Q5KU26,O14949 13 |
| Multiple enchondromatosis 0.5768056738646057 1.0169002228933743 0.3092008973097484 1.0 0.7055855685492483 6 P48735,O15160 2 |
| Excessive daytime somnolence 0.4558710862348458 1.0157857439585631 0.3097314261764459 1.0 0.7055855685492483 15 Q99496,P35610,Q9UBM7 3 |
| Difficulty standing 0.7200892001474981 1.0143303021350096 0.3104251695041342 1.0 0.7060015160586554 4 P52788 1 |
| Posteriorly rotated ears 0.3048220546258497 1.012841598196014 0.311135827710284 1.0 0.7066606436556752 110 Q9UM00,Q6NUK1,Q9UBM7,Q15392,Q14004,P40855,P11233,O43505,P41227,Q4J6C6,Q9H490,P42892,Q9Y619,P04062,Q96L58,P56589 16 |
| Abnormally large globe 0.5757779507819258 1.0124681378406877 0.3113142736259566 1.0 0.7067129316910759 6 Q86XI2,Q9H7D7 2 |
| Abnormal lumbar spine morphology 0.5240532139340912 1.011293395484159 0.3118760261685491 1.0 0.7072819406425901 9 O75845,P04062 2 |
| Hypertriglyceridemia 0.4134364138663384 1.0108645819934334 0.3120812477658234 1.0 0.7073945331960116 24 Q9BTV4,Q969N2,P50402,P38571,Q13426,Q9Y285 6 |
| Broad distal phalanx of finger 0.6256767363273257 1.007302349940992 0.3137895008596336 1.0 0.7079003387188852 5 Q96L58 1 |
| Flexion contracture of digit 0.3335690409719432 1.0070144381585058 0.313927835925311 1.0 0.7079003387188852 66 Q9BZI7,P52788,Q14004,P41227,O75844,O60826,P42892,Q9Y619 8 |
| Aplasia hypoplasia of the breasts 0.5495144810020065 1.0058183470311952 0.3145029599976447 1.0 0.7079430490640054 7 Q9Y619 1 |
| Spontaneous recurrent epistaxis 0.7846678023850324 1.0048946707765931 0.3149475708583098 1.0 0.7082426333791962 2 P04062 1 |
| Agitation 0.3838115120043675 1.000790968868 0.316927876627342 1.0 0.7115955440732091 32 O96008,Q15165,Q96QK1,P35610,P35637,P42892,P04062,O75165 8 |
| Abnormality of the musculature of the upper arm 0.5352149425734797 1.0007191744590958 0.316962594683196 1.0 0.7115955440732091 8 Q9BTV4,P50402 2 |
| Proximal upper limb amyotrophy 0.5352149425734797 1.0007191744590958 0.316962594683196 1.0 0.7115955440732091 8 Q9BTV4,P50402 2 |
| Xerostomia 0.4532117014047949 1.0005083392592191 0.3170645639525669 1.0 0.7115955440732091 15 Q15165,Q14739 2 |
| Tremor 0.326360163527244 0.9998376803120532 0.317389067463274 1.0 0.7116213460332874 156 Q86SZ2,Q5JRX3,P07602,O75503,P20700,Q99720,Q14108,O95342,Q9Y4U1,Q9NQZ5,P51798,Q13510,O14773,Q9NR77,P04062,P15289 16 |
| Decreased light and dark adapted electroretinogram amplitude 0.8124747504175154 0.9975444699254856 0.3185002996373076 1.0 0.7121838517695478 3 P50897 1 |
| Photoreceptor layer loss on macular oct 0.7826235093696987 0.9969199068307416 0.3188033881807417 1.0 0.7121838517695478 2 P04439 1 |
| Abnormal optical coherence tomography 0.7826235093696987 0.9969199068307416 0.3188033881807417 1.0 0.7121838517695478 2 P04439 1 |
| Death in childhood 0.4155316836201465 0.9966560041700204 0.3189315118366016 1.0 0.7121838517695478 23 Q9Y4L1,O94979,O95342,Q6NUQ1,P07686 5 |
| Abnormal hypothalamus physiology 0.7151805795228534 0.9960248489290676 0.3192380718015442 1.0 0.7121838517695478 4 Q99496 1 |
| Optic atrophy 0.3333127995964908 0.9943040635859374 0.3200748579658383 1.0 0.7121838517695478 179 P07602,O60826,P50897,Q15125,Q5KU26,P06280,P16278,Q9UBM7,P40855,P56589,Q6ZXV5,O43505,O15460,Q9H061,O75175,Q9H490,P15289,Q01433,Q9Y4U1,Q9H0B6,P51798,O60762,P51572,P01889 24 |
| Limitation of joint mobility 0.3111344314215328 0.9929767949614906 0.3207212630928431 1.0 0.7121838517695478 91 Q9BTV4,P50402,P51648,P16278,Q7LGA3,Q96AY3,P54802,Q9BT22,O15460,O75844,P15586,P48735,P01889,Q96L58 14 |
| Visual hallucinations 0.5709754592110444 0.9917736642885012 0.32130794729029 1.0 0.7121838517695478 6 P04062,O75165 2 |
| Vitreous hemorrhage 0.8108069406830589 0.9916664840317674 0.3213602457204216 1.0 0.7121838517695478 3 Q99496 1 |
| Abnormality of neutrophil morphology 0.7139881857588033 0.9915833954579236 0.3214007924785691 1.0 0.7121838517695478 4 O75533,Q14739 2 |
| Microdontia 0.4011515420683247 0.9899835933253242 0.3221821383527512 1.0 0.7121838517695478 26 Q9UM00,Q7LGA3,Q6NUK1,Q9Y619,Q96L58,Q9H1A4 6 |
| Type 1 muscle fiber atrophy 0.532631591537393 0.9886961769415368 0.3228118138654763 1.0 0.7132290173208555 8 P50402 1 |
| Abnormal macular morphology 0.3956907039588747 0.9874668668473532 0.3234138181069219 1.0 0.7138653548214438 27 Q9UM00,P04439,Q16851,Q9Y4U1,O60762,P50897,Q13510,P04062 8 |
| Abnormality of the musculature of the hand 0.3626407380285251 0.9870883000603432 0.3235993529398357 1.0 0.7139283152923015 37 P46777,P61353,P18077,P61313,P42766,Q9Y6X9,P62847,P61254,P62244,Q9NR77,P39019,Q07020 12 |
| Chronic rhinitis 0.7795570698467016 0.9849765133223678 0.3246356077538692 1.0 0.7144811754390463 2 P51798 1 |
| Female infertility 0.7795570698466755 0.9849765133222664 0.324635607753919 1.0 0.7144811754390463 2 Q15645 1 |
| Chronic sinusitis 0.7795570698466755 0.9849765133222664 0.324635607753919 1.0 0.7144811754390463 2 O95394 1 |
| Microretrognathia 0.4554320008876671 0.9843396057767072 0.3249485621261681 1.0 0.7148239535499208 14 Q15125 1 |
| Increased sulfur amino acid level in urine 0.6196600282960287 0.9830480772137156 0.3255837771657892 1.0 0.7157845752511379 5 Q4J6C6 1 |
| Autoimmune hemolytic anemia 0.5440545491683653 0.981174777323193 0.3265065600850223 1.0 0.7168639926154498 7 O60934 1 |
| Central nervous system cyst 0.341339024915503 0.9805842358136422 0.3267978113279306 1.0 0.7171571660753381 53 Q15125,O43505,Q9UBM7,Q9Y285 4 |
| Retinal atrophy 0.394429830060039 0.9782221325481468 0.3279644722730364 1.0 0.7193702148699934 27 Q9UGU0,P51648,P04439,Q7LGA3,P55011,Q9Y296,O75175,P04062 8 |
| Abnormal circulating fatty acid anion concentration 0.4634906733522532 0.9773435885230528 0.3283990805032433 1.0 0.7199761904764934 12 O43772 1 |
| Increased mean corpuscular volume 0.4161030229899431 0.975056557987506 0.3295322058542955 1.0 0.7207229148722857 22 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62081,P62244,P39019,Q07020 11 |
| Falls 0.5423836623670972 0.9736410152484432 0.3302348138794491 1.0 0.7210148234845236 7 Q01082,Q9NZJ4,Q8WVX9 3 |
| Retinal detachment 0.4438268841948726 0.9723889884135342 0.3308570679805878 1.0 0.7213513562387628 16 Q99496,P04439,O43505,Q13045,Q13426 5 |
| Thyroiditis 0.6163508152953153 0.9697300508715108 0.3321810673191234 1.0 0.721662327108074 5 P49917,P50851 2 |
| Pancreatic islet cell hyperplasia 0.8044491738191242 0.96930310391352 0.3323939810864129 1.0 0.721662327108074 3 Q14739 1 |
| Gaze evoked horizontal nystagmus 0.775468483816011 0.9690883372477784 0.3325011161846085 1.0 0.721662327108074 2 Q9NZJ4 1 |
| Aggressive behavior 0.3288831230384402 0.967850374082849 0.3331191016238428 1.0 0.7221869672918124 71 Q15125,O75503,P54802,Q9UBM7 4 |
| Corneal erosion 0.7073813455383289 0.9670141174527987 0.3335369763168696 1.0 0.7221869672918124 4 P51648,P01889 2 |
| Confusion 0.420770213003351 0.9629528826430332 0.3355711691338894 1.0 0.7241775538926413 20 Q9Y4U1,O96008,Q9Y619,P01889 4 |
| Abnormal tendon morphology 0.3358243328319284 0.9620335604639536 0.3360327460385104 1.0 0.7244859631280735 201 Q9BTV4,P20700,Q99720,O94979,O75844,P15586,O60826,P50897,P42892,P04066,Q14004,Q9BT22,Q9H7D7,Q9ULH0,Q13510,Q9NR77,Q96L58,P50570,P52788,Q15392,Q7LGA3,P10412,P04062,P37268,P50402,Q96AY3,Q9H0B6,Q15041,P41227,O60762,Q9BZI7,Q9Y619 32 |
| Abnormal immune system morphology 0.3196634462976792 0.9597651151756847 0.3371734431353901 1.0 0.7254024562410479 146 P61353,P61254,Q14108,P42766,P62847,P38571,O95394,P26038,Q07020,P04066,O75533,Q14739,P18206,P16278,P18077,P21359,P61313,P02786,P35610,Q13510,P05165,P61916,P46777,O60934,O15118,P53634,Q13426,P04062,P33991,P39019,Q96BN8,Q9Y4L1,Q9Y4U1,Q9Y3C6,Q14126,P51798,P62244,P35658,P01889,P50851,Q9H1A4 41 |
| Thoracic aortic aneurysm 0.3677871740102112 0.959298217559259 0.3374085330682863 1.0 0.7254024562410479 35 Q7LGA3,P55011,Q9Y296,O75175,O75844,O95394,P01889,Q96L58 8 |
| Abnormality of the pulmonary veins 0.5632963997112101 0.958747316615997 0.3376860553790606 1.0 0.7254024562410479 6 P62244,Q15392 2 |
| Conical tooth 0.5622535991930429 0.954269167322875 0.3399474109070755 1.0 0.7287792915579784 6 Q9H1A4 1 |
| Decreased circulating androgen concentration 0.5377154056153957 0.9526143660001196 0.3407854956911706 1.0 0.728961349466171 7 Q99496 1 |
| Arterial thrombosis 0.5376138939502066 0.9521575171403212 0.3410171026447524 1.0 0.728961349466171 7 P01889 1 |
| Atrophy degeneration affecting the brainstem 0.4588510024213162 0.9521064128365676 0.3410430170687246 1.0 0.728961349466171 12 P20700,Q86SZ2 2 |
| Congenital malformation of the right heart 0.5246470112161143 0.9515940468302564 0.341302901865121 1.0 0.728961349466171 8 P40855,P01889 2 |
| Abnormal size of the clitoris 0.4495435648310396 0.9511951838414764 0.3415053028414343 1.0 0.728961349466171 14 P40855,Q9Y619,Q9UBM7 3 |
| Abnormal consumption behavior 0.4124394922099956 0.950803071994448 0.3417043528513452 1.0 0.728961349466171 22 P35610 1 |
| Aplasia hypoplasia of the extremities 0.3298672590855689 0.9501608943914432 0.3420305055104222 1.0 0.7291198821171542 177 P61353,P42766,P55011,P62847,Q9Y296,O75844,Q9Y4A5,O60826,Q15125,Q07020,Q14739,Q99622,P18077,Q9UBM7,P61313,P31150,P36776,P62081,Q13510,Q96L58,Q969N2,Q96HY6,P46777,Q15392,Q6NW34,Q7LGA3,Q9UBN7,P13073,Q32P28,O75175,Q13426,Q6NUK1,P48735,P39019,Q99496,Q9UGU0,P62244,Q96AY3,P51798,O60762,Q10471,Q9BZI7,Q9Y619,Q04721,P61254,Q9H1A4 46 |
| Atelectasis 0.4870689178314653 0.9490105225993312 0.3426152603019878 1.0 0.7296822429007676 10 Q96L58,Q13510 2 |
| Auditory hallucinations 0.7693356047700302 0.9453382270467884 0.3444862282179599 1.0 0.7318738247135044 2 Q9Y4U1 1 |
| Abnormal circulating sex hormone concentration 0.4232212520118373 0.941395422350178 0.3465022585889881 1.0 0.73499733724884 19 Q99496 1 |
| Sparse eyebrow 0.3729182552951975 0.9409233911674294 0.3467441195888445 1.0 0.7350328726202686 33 Q9UM00,Q00577,P52788,P41227,O75844,Q15125 6 |
| Lower limb hyperreflexia 0.4169171631685656 0.9383451497940556 0.3480670639935135 1.0 0.7364639087847863 20 Q14739,P13073,Q9NZJ4,Q15041,O60762,Q8WVX9,O95394 7 |
| Cerebellar cyst 0.3521592156636176 0.9368629936701396 0.3488290369658662 1.0 0.7369246436086441 39 Q15125,O43505,Q9UBM7 3 |
| Bilateral sensorineural hearing impairment 0.3933455014631114 0.9340625317765348 0.3502716378902957 1.0 0.737093384924197 26 P07602,P15289 2 |
| Delayed ability to walk 0.3261276306024692 0.928833590778722 0.3529753333407854 1.0 0.7407473510968968 69 P20700,Q99720,Q14004,P55011,Q6ZXV5,P11233,Q96N66,Q01433,Q9H7D7,O75175,Q9Y4A5,P35637,Q10471,Q01105 14 |
| Abnormality of the nasal skeleton 0.6965769136630173 0.9269958533291864 0.3539286872605505 1.0 0.7412313498764046 4 Q6NUK1 1 |
| Abnormality of endocrine pancreas physiology 0.6964559740090199 0.9265491388255542 0.3541606727241178 1.0 0.7412313498764046 4 Q14739 1 |
| Abnormality of central nervous system electrophysiology 0.3173284339118415 0.9253269953969936 0.3547958406989715 1.0 0.7420683935870392 146 P07602,O75503,P52788,P20700,Q96N66,Q14108,P55011,P40855,Q9NQZ5,Q00577,O60762,Q9BQE5,P50897,P56589,Q15125 15 |
| Proximal muscle weakness 0.3295447517143811 0.9234971261752548 0.3557481973306493 1.0 0.7430349348931844 56 Q9BTV4,P50402,P10253,P13473,Q99720,Q13510,P35637,P50570 8 |
| Slow saccadic eye movements 0.4575718687716277 0.922792977310983 0.3561151012595815 1.0 0.7431857341252321 11 Q8IV08 1 |
| Cardiac conduction abnormality 0.3868209682562238 0.9225597667440382 0.3562366705716129 1.0 0.7431857341252321 27 P50402,O43772,Q9H490,P06280 4 |
| Total anomalous pulmonary venous return 0.7900946992371884 0.9190910826263 0.3580479331242261 1.0 0.7451002068264788 3 Q15392 1 |
| Atrophy degeneration affecting the cerebrum 0.3355523347647555 0.9179042784747892 0.3586689815319068 1.0 0.7457100407067127 228 P07602,O75503,P20700,P55011,Q9NZJ4,Q9Y296,Q9Y3B2,Q9Y4A5,P50897,Q8WVX9,O14773,Q5JRX3,Q5KU26,O75165,P04066,Q9UM00,P16278,Q16851,P40855,Q9BT22,Q9ULH0,O96008,P05165,Q86SZ2,Q969N2,P11166,Q7LGA3,P13073,P15311,O75175,Q96QK1,Q9H490,Q6DKK2,Q9H269,P04062,Q9Y263,O75845,Q9UGU0,Q96N66,Q01433,Q9Y4U1,Q9Y320,P41227,O60762,P51572,Q9Y619,Q01105 47 |
| Skin erosion 0.5294790033130663 0.915605132737796 0.3598740382711336 1.0 0.7468494988675695 7 O75844 1 |
| Neonatal death 0.4517061155240177 0.9133395345471166 0.3610639957967754 1.0 0.7472506277580792 12 P04062,Q14739 2 |
| Abnormality of the abdominal organs 0.3142207501085076 0.9132170229354832 0.3611284126860392 1.0 0.7472506277580792 328 Q8N511,P07602,P10253,Q14108,O43772,Q14376,P38571,P15586,P04066,Q14739,P16278,Q9UBM7,P40855,P54802,P11717,O43676,P35610,P09601,Q13510,P56589,P10619,P07686,P61916,P12955,Q15392,O60934,O95342,O15118,P53634,P04062,P15289,Q99496,O75845,Q9Y4U1,P51798,O60762,Q9Y285,Q9Y619,P01889 39 |
| Absent epiphyses 0.5523294368130058 0.9117449121922832 0.3619030155030236 1.0 0.7472506277580792 6 Q7LGA3 1 |
| Left ventricular hypertrophy 0.4183263786352171 0.9109258342391662 0.3623344526428131 1.0 0.7472506277580792 19 Q6NUK1,P12235,P10253,P06280 4 |
| Abnormality of the gastric mucosa 0.4423324555944555 0.9107235316161534 0.3624410621353116 1.0 0.7472506277580792 14 Q14739 1 |
| Pes cavus 0.294738586150145 0.91041348458371 0.3626044889291937 1.0 0.7472506277580792 97 Q8N0X7,Q99720,P55011,Q8WWQ0,Q9NZJ4,Q9Y296,Q8WVX9,Q10713,Q14739,P13473,P21359,P36776,Q9H7D7,Q96BR5,Q9NR77,P50570,Q7LGA3,O75175,Q13426,P04062,O95831,Q9UGU0,Q9Y6X9,Q9H0B6,Q13620 25 |
| Abnormal atrioventricular valve physiology 0.343451374514591 0.9094440495369098 0.3631157789251003 1.0 0.7472506277580792 47 Q99496,O75844,P04062,P01889,Q96L58,P06280 6 |
| Abnormal thrombosis 0.3828561480210582 0.9088876313298596 0.363409443309284 1.0 0.7472506277580792 28 P01889,P38571,P48735,O15460 4 |
| Elbow flexion contracture 0.3896683532226737 0.9078036900509484 0.3639819484580875 1.0 0.7472506277580792 26 Q9BTV4,P50402,Q7LGA3,Q96AY3,Q96L58 5 |
| Muscle spasm 0.3322324943976507 0.9076163113898916 0.3640809733665666 1.0 0.7472506277580792 54 P12235,Q92804,P53985,P13473,Q9Y6X9,Q15165,Q96QK1,Q8WVX9,P35637,Q9NR77,P04062,O75165,P06280 13 |
| Abdominal pain 0.3116808085343694 0.9076075552981824 0.3640856011526687 1.0 0.7472506277580792 86 Q14108,O95342,Q13423,P42892,P04062,P07686,P06280 7 |
| Subdural hemorrhage 0.7591141396933732 0.9059919435677384 0.3649401166851282 1.0 0.7472506277580792 2 Q9Y4U1 1 |
| Cerebral hamartoma 0.7591141396933527 0.9059919435676588 0.3649401166851704 1.0 0.7472506277580792 2 Q9H269 1 |
| Pharyngitis 0.7862985685071522 0.9058835301828791 0.364997502584274 1.0 0.7472506277580792 3 P01889,O15460 2 |
| Severe muscular hypotonia 0.3800732241321276 0.9054367558079008 0.3652340508361043 1.0 0.7473983929575906 29 O95831,Q00577,Q92947,P40855,O43505,Q14204,P67870,P56589,O96011,O75380,Q01105 11 |
| Upper motor neuron dysfunction 0.2969272111686401 0.9046262012359364 0.3656634497362157 1.0 0.7479404885067803 360 P07602,O75503,P20700,Q99720,P11117,P55011,P50897,O14773,Q5KU26,P04066,P16278,Q16851,P40855,Q9ULH0,P35610,Q13510,P56589,Q9NR77,P07686,P61916,Q96L58,Q15392,Q6ZXV5,O43505,O15118,Q9H490,P04062,P15289,Q99496,Q96N66,Q01433,Q9H0B6,Q9Y3C6,Q15165,P41227,Q13423,P51572,Q9BZI7,Q9Y619,P01889,Q01105 41 |
| Recurrent pneumonia 0.4320557877333049 0.9037187783185386 0.3661445392338112 1.0 0.7482513347847818 16 Q00577,P12955,O60934,P20700,P50851 5 |
| Uveitis 0.5142111719282185 0.9032643893457978 0.3663855914860174 1.0 0.7484075851244032 8 P01889 1 |
| Plagiocephaly 0.3642443633064269 0.8991923984744634 0.368550188583669 1.0 0.7518159297846313 34 P24928,Q9UGU0,Q9UQE7,Q6NW34,Q9BPU6,O75175,Q9ULH0,Q01082,Q10713,Q96L58,Q01105 11 |
| Episodic pain 0.4443734998046191 0.896832946460287 0.3698080646250887 1.0 0.753025328748197 13 P07686 1 |
| Prenatal movement abnormality 0.3231485687778838 0.894840303809458 0.3708724619088577 1.0 0.7539866505436522 61 Q9UM00,Q9UBM7,P40855,O75844,Q4J6C6,P04062 6 |
| Delayed ability to roll over 0.6877602395167917 0.8945080026272716 0.3710501499543146 1.0 0.7539866505436522 4 P51970,P18583 2 |
| Recurrent aspiration pneumonia 0.5480160663936188 0.8933214078296524 0.3716850768421496 1.0 0.7539866505436522 6 P04062,Q13510 2 |
| Delayed epiphyseal ossification 0.782639511541273 0.8931835202092465 0.3717589018602987 1.0 0.7539866505436522 3 Q96L58 1 |
| Abnormal pulmonary thoracic imaging finding 0.4154248978135672 0.8929046614018756 0.3719082306264683 1.0 0.7539866505436522 19 P04062,P01889,Q13510 3 |
| Macrodontia 0.4097173597135494 0.8924973299430091 0.3721264232706267 1.0 0.7539866505436522 20 Q9UGU0,Q00577,Q7LGA3,P55011,Q9BPU6,Q9Y296,Q12830,O75175,Q9H3S7,Q9UID3,P21281,P42858 12 |
| Lymphoproliferative disorder 0.6866881668633356 0.8905689216388375 0.3731604782106537 1.0 0.7539866505436522 4 P33991 1 |
| Hypertonia 0.2950259906354745 0.8897614295033149 0.3735940012480423 1.0 0.7539866505436522 362 P07602,O75503,P20700,Q99720,O94979,P11117,P55011,Q9NZJ4,Q9Y296,P06865,Q9Y487,P50897,Q8WVX9,Q15125,Q5KU26,O75165,P04066,P51648,Q14739,P12235,P16278,Q9UBM7,Q16851,P40855,Q9H7D7,Q9ULH0,Q86XL3,P35610,Q13510,P56589,O96008,P05165,Q9UEY8,P07686,P61916,Q15392,Q7LGA3,Q6ZXV5,P11166,P15311,Q04446,O43505,O15118,Q96QK1,Q9H490,P10412,P19404,Q6DKK2,P04062,Q9Y263,P15289,Q9UGU0,Q96N66,Q01433,Q9Y320,Q9H0B6,Q9Y3C6,Q15041,Q15165,P41227,O60762,P35637,O96011,Q9Y619,Q01105,Q96RQ3 66 |
| Abnormality of circulating adrenocorticotropin level 0.5109641045728356 0.8882719936238047 0.3743944607931677 1.0 0.7552669091510797 8 Q99496 1 |
| Abnormal respiratory system morphology 0.326960997574436 0.8872854543651999 0.3749252347450289 1.0 0.7560022360911958 288 P07602,P10253,Q00577,P20700,Q92890,Q14108,P55011,Q9Y296,O75844,P15586,O60826,Q9Y487,Q9Y4A5,Q8N1F7,P26038,Q15125,P04066,P06280,Q14739,P16278,Q9UBM7,Q16851,P02786,P54802,Q9H7D7,P09601,Q13510,Q96L58,Q96HY6,P12955,Q15392,O60934,Q6NW34,Q7LGA3,O15460,O75175,P53634,Q6NUK1,P04062,P33991,P35637,Q99496,Q9Y5K6,Q15165,P41227,P51798,P52565,Q9Y285,P01889,P50851 50 |
| Abnormal pyramidal sign 0.3022150623520965 0.88291525168706 0.3772820625042214 1.0 0.758400326351324 121 Q9BZI7,P07602,Q99720,P01889,O14773,Q9NR77,Q9Y619,P51572,P04066,P15289 10 |
| Unsteady gait 0.3433804345371066 0.8812927675357456 0.3781593796577638 1.0 0.7598279714113354 44 Q9NR77,O75503,P52788 3 |
| Recurrent ear infections 0.7779833188516715 0.877068048263054 0.3804496782483315 1.0 0.7628071378338428 3 Q01082 1 |
| Abnormality of female external genitalia 0.3609164409119156 0.8721610679832783 0.3831205150634276 1.0 0.766409582927147 34 Q15392,Q9UBM7,P40855,P56589,Q9Y619 5 |
| Biliary cirrhosis 0.5194978406616548 0.8709388694823369 0.3837875320577457 1.0 0.7668010577550735 7 Q14739 1 |
| Abnormality of facial musculature 0.3191132436155677 0.8701331298596745 0.3842276544352585 1.0 0.7668010577550735 74 Q00577,P10253,Q9H1B7,O75165,P12235,P40855,O75340,P31150,Q13510,P56589,P50570,Q96QK1,P04062,Q9Y263,Q99496,Q01433,P51798,O96011,Q9BZI7 19 |
| Poor motor coordination 0.4303064533025709 0.8696346456428531 0.3845000980252071 1.0 0.7668010577550735 15 O75503 1 |
| Narrow internal auditory canal 0.7756534678299676 0.8690240809495677 0.3848339594891308 1.0 0.7668010577550735 3 O15160 1 |
| Short face 0.7756534678299676 0.8690240809495677 0.3848339594891308 1.0 0.7668010577550735 3 O15160 1 |
| Abnormality of the internal auditory canal 0.7756534678299676 0.8690240809495677 0.3848339594891308 1.0 0.7668010577550735 3 O15160 1 |
| Increased intracranial pressure 0.4212475998280859 0.866927651862117 0.385981651538994 1.0 0.768078148598602 17 Q99496,P07602 2 |
| Sparse or absent eyelashes 0.392097162439908 0.8644618237784787 0.3873342433095543 1.0 0.7689565031917834 24 Q9UM00,Q15125,O75844 3 |
| Eczema 0.3562469245497981 0.8636173049080915 0.3877981546867162 1.0 0.7689565031917834 35 Q14739,P12955,Q9UBM7,Q92890,P26038,P05165 6 |
| Parathyroid adenoma 0.5897421057927029 0.8633598068281617 0.3879396709530767 1.0 0.7689565031917834 5 P48735,P10644,P21359 3 |
| Abnormality of the parathyroid morphology 0.5897421057927029 0.8633598068281617 0.3879396709530767 1.0 0.7689565031917834 5 P48735,P10644,P21359 3 |
| Neoplasm of the parathyroid gland 0.5897421057927029 0.8633598068281617 0.3879396709530767 1.0 0.7689565031917834 5 P48735,P10644,P21359 3 |
| Lipodystrophy 0.3562090234771202 0.8633045715537601 0.3879700313550018 1.0 0.7689565031917834 35 Q9BTV4,P50402,Q96BN8,O75844,Q9Y487,Q6NUK1,P04066 7 |
| Abnormality of the testis size 0.3766617237861386 0.8631887297591072 0.3880337091986281 1.0 0.7689565031917834 28 P21359,O43505,Q8WWQ0,P38159,P41229,Q9BZI7,Q13620 7 |
| Increased proteinogenic amino acid level in urine 0.4423960887358682 0.8630423556833594 0.3881141796404537 1.0 0.7689565031917834 12 Q9Y4U1,Q4J6C6 2 |
| Stroke 0.3717298191479913 0.8614018608111271 0.3890167515482585 1.0 0.770073647927702 30 O75844,Q96L58,P06280 3 |
| Abnormal hemoglobin 0.3870831567068573 0.8581039724977105 0.3908350540034866 1.0 0.7720448448395818 25 P46777,P61353,P18077,P61313,P42766,P61254,P62847,Q969M3,P62081,P62244,P39019,Q07020 12 |
| Aplasia hypoplasia of the nasal bone 0.74548551959116 0.8540460934978543 0.3930794504829176 1.0 0.7747430695040426 2 Q6NUK1 1 |
| Congenital craniofacial dysostosis 0.74548551959116 0.8540460934978543 0.3930794504829176 1.0 0.7747430695040426 2 Q6NUK1 1 |
| Abnormal circulating monocarboxylic acid cocentration 0.5152054884655661 0.851802760949396 0.3943235737218198 1.0 0.7765244529905216 7 O95342,P61011,P28288 3 |
| Depressed nasal ridge 0.4032986079531772 0.8518005137355764 0.3943248211909202 1.0 0.7765244529905216 20 P12955,Q9UBN7,O75175,P16278 4 |
| Rhinitis 0.5380891459164732 0.8510803735214676 0.3947247070530673 1.0 0.7766224419696752 6 O95394,P51798,P61011 3 |
| Abnormality of the abdominal wall 0.2936445959622247 0.8507882726567152 0.3948869773111698 1.0 0.7766224419696752 110 Q99496,Q9UM00,Q14739,Q96HY6,P16278,Q9UBM7,O94979,Q92890,Q32P28,P41227,Q13426,O75844,Q9Y487,O60826,Q6NUK1,P04066 16 |
| Elevated circulating long chain fatty acid concentration 0.7437819420783901 0.8475982336851545 0.3966617583767888 1.0 0.7780936218029589 2 P40855 1 |
| Reduced natural killer cell count 0.674612054906299 0.8463845802335368 0.3973382376975716 1.0 0.7787486925908871 4 P33991 1 |
| Abnormal natural killer cell morphology 0.674612054906299 0.8463845802335368 0.3973382376975716 1.0 0.7787486925908871 4 P33991 1 |
| Abnormal urine protein level 0.3259098913875385 0.8430625180262679 0.3991934800120424 1.0 0.7803666180630942 54 Q14108,Q9Y4U1,P09601,P04062,P06280 5 |
| Abnormal brainstem morphology 0.3124604912569554 0.8396655935137416 0.4010959104314948 1.0 0.7827884958815658 80 Q99496,Q8IUX1,P20700,Q9Y320,Q6ZXV5,Q9Y3C6,O43505,O43676,Q9NZJ4,Q9Y3B2,O60762,P19404,Q5KU26,Q86SZ2 14 |
| Abnormal gastrointestinal motility 0.3752584160376955 0.8385096086723618 0.4017445534818051 1.0 0.783669019597498 27 P06280 1 |
| Abnormal urine carbohydrate level 0.4327084409990003 0.832926422658332 0.4048862267266488 1.0 0.7859485301956762 13 P10253,P16278,P04066 3 |
| Visual field defect 0.3487078426892519 0.8326229927854315 0.4050573873291738 1.0 0.7859485301956762 36 Q99496,P04439,P40855,Q9H061,P56589,P01889 6 |
| Cerebellar atrophy 0.3024408735095128 0.8322979407857288 0.4052407926552637 1.0 0.7859485301956762 128 O75503,Q14108,Q9NZJ4,Q9Y296,Q9H1B7,Q8WVX9,O14773,Q5JRX3,P12235,Q9BT22,Q86SZ2,Q8IV08,Q969N2,P13073,Q13426,Q9H490,Q6DKK2,Q9Y263,O75845,Q9Y320,Q9Y6X9,O15160,P51798,O60762,P51572,P35658 26 |
| Increased head circumference 0.2941320134421616 0.8321271686404422 0.4053371679570374 1.0 0.7859485301956762 113 P07602,P55011,Q9Y296,O75844,O60826,Q8WVX9,Q10713,Q9UM00,Q14739,Q99622,P21359,P40855,P31150,P56589,P07686,P50570,Q969N2,Q15392,Q7LGA3,P11166,Q9UBN7,O43505,O75175,P10412,Q9UGU0,P51798,O96011,Q9BZI7,Q04721 29 |
| Ankle flexion contracture 0.4404136202712265 0.8317025284776487 0.4055768731059654 1.0 0.7859485301956762 11 Q96AY3 1 |
| Abnormality of the choanae 0.3558846064937472 0.8314457347867312 0.4057218716761743 1.0 0.7859485301956762 34 P55011,O75844,Q9UBM7 3 |
| Axonal degeneration 0.670332175358894 0.8308137316444812 0.4060788641470383 1.0 0.7859485301956762 4 P50570 1 |
| Bilateral tonic clonic seizure 0.313973839614764 0.8306113754509983 0.4061932064322955 1.0 0.7859485301956762 77 Q14739,P07602,Q00577,Q9NQZ5,Q9Y3C6,Q969M3,Q13510,Q9BZI7,P04062,P07686,Q01105 11 |
| Breast hypoplasia 0.76446866508179 0.830604161549416 0.4061972830349327 1.0 0.7859485301956762 3 Q9Y619 1 |
| Hemorrhage of the eye 0.4628541798602075 0.8274231230536624 0.4079972789948474 1.0 0.7868835936028228 10 Q99496,O75533,Q9Y487,P50570 4 |
| Abnormal sternum morphology 0.2931523612131876 0.8265712344395352 0.4084801271640033 1.0 0.7873502069583395 112 P50402,Q14739,P52788,P16278,Q96AY3,P55011,P41227,Q13510,Q9H490,Q9BZI7,Q9Y619,P04062,Q96L58 13 |
| Hyperlordosis 0.3345896796183602 0.8256626196390455 0.4089955024213623 1.0 0.7880095548770908 47 Q9BTV4,P50402,P16278,P41227,Q9H4A3,P04066,P50570 7 |
| Upper limb muscle weakness 0.3958796079613945 0.8220504465093973 0.4110481865040003 1.0 0.7906244094897164 21 Q9BTV4,Q99496,P50402,Q8N0X7,Q9Y6X9,P50570 6 |
| Distal lower limb amyotrophy 0.4305485508239963 0.8211515140361265 0.4115599704059876 1.0 0.7912740741801376 13 P41229,Q9H0B6,Q9NR77,Q9Y6X9 4 |
| Abnormal ovarian physiology 0.3853978319743017 0.8189336130347489 0.4128242910415933 1.0 0.792297686022675 24 O75844,O60934 2 |
| Severe short stature 0.3812577803649354 0.8177282653306065 0.4135123669885117 1.0 0.792297686022675 25 Q96HY6,P16278,Q15392,Q9Y619,P10619,Q96L58 6 |
| Pulmonary artery dilatation 0.4210183782621722 0.8170794301356165 0.4138830372424569 1.0 0.792297686022675 15 Q9UGU0,Q7LGA3,P55011,Q9BPU6,Q9Y296,Q12830,O75175,Q9H3S7,P42858 9 |
| Abnormal cartilage morphology 0.4374633447260685 0.8161441701309682 0.414417683747152 1.0 0.7924126190068546 11 O15160,P48735,Q7LGA3 3 |
| Gray matter heterotopia 0.3807626349030468 0.814306378855751 0.4154694563487098 1.0 0.7937561420241946 25 Q9UBM7,Q6ZXV5,O43505,Q86XL3,Q6NUK1,Q6UVJ0 6 |
| Micromelia 0.387931163787429 0.8115253758842681 0.4170640262889939 1.0 0.7954656575235132 23 Q14739,Q9UBM7 2 |
| Abnormal male reproductive system physiology 0.3532721714174596 0.8103904166215601 0.4177158240371683 1.0 0.7957075206941786 34 Q99496,P20700,Q13423,P04062,P07686 5 |
| Cardiac arrest 0.3709614804896971 0.8074860293150437 0.4193865202937834 1.0 0.7978872417472105 27 P50402,O43772,O15460,P04062,P01889 5 |
| Bruising susceptibility 0.3641728262846263 0.8043216724414276 0.4212112243777985 1.0 0.7996857775556785 30 Q14108,P51798,P04062,Q96L58 4 |
| Abnormality of the nail 0.2888629783474822 0.7998249971493326 0.4238121979593763 1.0 0.8033879972804352 108 Q14739,Q6NUK1,P12955,Q9Y619,P53634,O75844,O60762,O60826,Q9H4A3,Q06136,P42892,Q15125,Q96L58,P04066 14 |
| Acute encephalopathy 0.6612596430531892 0.7979760183386806 0.4248844070358226 1.0 0.804308658947496 4 Q9Y619 1 |
| Abnormal location of ears 0.3279703095228541 0.7956444568273388 0.426238718941895 1.0 0.80525871649237 231 Q00577,P42766,P55011,P62847,O75844,P15586,O60826,P42892,Q15125,Q9UM00,Q14739,P16278,Q9UBM7,Q16851,Q14004,P40855,P11233,P56589,Q96L58,P52788,Q15392,Q9UBN7,O43505,O75175,Q4J6C6,Q9H490,Q6NUK1,P04062,Q9Y4U1,P41227,Q10471,Q9BZI7,Q9Y619 33 |
| Congenital hypothyroidism 0.6605126270532211 0.7952830603539154 0.4264488650348861 1.0 0.80525871649237 4 Q9Y263,Q13423 2 |
| Protruding tongue 0.4561157279051361 0.7939123315268747 0.4272464702341056 1.0 0.8056529177966691 10 Q6NUK1,Q10713,O60826,P20700 4 |
| Short palpebral fissure 0.3626499640772465 0.7928733015758334 0.4278516438392319 1.0 0.8060223781113474 30 Q14004,Q9Y619,O75844 3 |
| Lewy bodies 0.4901353570929134 0.7927613602300113 0.4279168728306119 1.0 0.8060223781113474 8 P04062,O75165 2 |
| Eeg with irregular generalized spike and wave complexes 0.7531664973648308 0.7921401830314604 0.4282789422333635 1.0 0.8062268546602903 3 Q9NQZ5 1 |
| Joint hypermobility 0.2929916863081058 0.7916627320124487 0.4285573581952764 1.0 0.8062268546602903 93 Q92890,P55011,Q8WWQ0,Q9Y296,Q9Y487,O95394,Q9UM00,Q99622,P21359,Q14004,Q96L58,Q969N2,P52788,Q6NW34,Q7LGA3,Q6ZXV5,O75175,Q9H490,Q9Y263,Q9UGU0,Q9Y285,Q9BZI7,Q9Y619,Q04721,Q01105 25 |
| Telecanthus 0.333611973553133 0.7860171563583626 0.4318574361316405 1.0 0.810767627239964 43 Q00577,Q99622,Q92890,Q9Y3B2,Q13426,O75844,Q9H490,P10412,Q15125 9 |
| Delayed ossification of carpal bones 0.7253833049403704 0.77868179726332 0.436167181367969 1.0 0.8148871543920616 2 P36776 1 |
| Tracheomalacia 0.4300073303188981 0.776991601216135 0.4371637255146812 1.0 0.8153336587019094 11 Q9Y4A5,Q96L58,Q9H7D7 3 |
| Spastic tetraparesis 0.3787822750434258 0.7742573202899964 0.4387786373386211 1.0 0.8171252791880741 24 P07602 1 |
| Dermal atrophy 0.3707320728730854 0.7737771616432733 0.4390625804375343 1.0 0.8171252791880741 26 P53634,O75844,Q96L58,Q15392 4 |
| Abnormal heart sound 0.6543736821745288 0.7732187871306451 0.4393929093923669 1.0 0.8171252791880741 4 Q01082,P10253 2 |
| Abnormal joint morphology 0.3260055851135734 0.7725256622544943 0.4398031537928604 1.0 0.8171252791880741 253 Q9BTV4,P07602,O94979,Q14108,P55011,Q92890,O75844,Q9H4A3,P42892,Q15125,P06280,P49257,Q14739,Q99622,P16278,Q9UBM7,Q16851,Q9ULH0,Q13510,Q9NR77,Q96L58,Q96HY6,P12955,Q15392,Q6NW34,Q6ZXV5,Q7LGA3,O15460,P04062,P37268,P50402,Q96BN8,Q96AY3,Q15041,P41227,P51798,O60762,Q9BZI7,Q9Y619,P01889,P50851,Q9H1A4 42 |
| Abnormal cardiac ventricular function 0.4092492013088307 0.7721565643796078 0.4400217038537397 1.0 0.8171252791880741 16 O75844 1 |
| Alkalosis 0.5192717858569975 0.7717544056920448 0.4402599007829284 1.0 0.8171252791880741 6 Q9Y619 1 |
| Dyschromatopsia 0.4970264067130157 0.7713536839442189 0.4404973201629634 1.0 0.8171252791880741 7 Q9H061 1 |
| Myalgia 0.3296151189898231 0.7700064562857949 0.4412960628938118 1.0 0.8171252791880741 46 Q14739,Q8IUX1,P50570,P20700,P46020,Q92890,Q96BN8,O15460,P01889,P06280 10 |
| Congenital onset 0.2855249567030614 0.7700019700586043 0.4412987240680874 1.0 0.8171252791880741 106 P07602,Q96N66,P55011,P11233,O43505,Q4J6C6,Q6NUK1,Q15125,Q5KU26 9 |
| Abnormality of the shoulder girdle musculature 0.3543240057430817 0.769632290961399 0.4415180447066928 1.0 0.8171252791880741 32 Q9BTV4,P50402,P07602,Q9Y487 4 |
| Holoprosencephaly 0.4285449573034089 0.7693429250388285 0.4416897612497301 1.0 0.8171252791880741 11 Q9UBM7 1 |
| Abnormal aortic morphology 0.2867036670609597 0.7691677208116675 0.4417937501407949 1.0 0.8171252791880741 108 P61353,Q92890,P42766,P55011,P62847,Q9Y296,O75844,Q9Y4A5,O95394,Q07020,Q99622,P18077,Q9UBM7,P21359,P61313,Q9H7D7,P62081,Q96L58,P46777,Q7LGA3,Q6ZXV5,O15460,O75175,Q6NUK1,P04062,P39019,Q9UGU0,P62244,P01889,P61254 30 |
| Receptive language delay 0.4045544526674012 0.7688266155277849 0.4419962464181743 1.0 0.8171252791880741 17 Q9UGU0,Q7LGA3,P55011,Q9BPU6,Q9Y296,Q12830,O75175,Q9H3S7,P42858 9 |
| Ventriculomegaly 0.3177303742285488 0.7686891043261922 0.4420778946124175 1.0 0.8171252791880741 177 Q96EK5,P07602,Q5SRE5,P20700,Q86Y56,O94979,Q9BPU6,Q969M3,Q9HC21,Q9Y487,O60826,Q8WVX9,Q15125,Q5KU26,Q10713,P08243,Q6UVJ0,P24928,Q9UM00,Q99622,P16278,Q9UBM7,P18583,O75340,P36776,Q9H7D7,Q9ULH0,Q86XL3,Q86SZ2,Q15645,Q15392,Q9UQE7,Q6ZXV5,O43505,Q13045,Q13426,P04062,Q9Y263,Q01433,Q9Y320,P41227,Q01082,P67870,P51970,O60762,P42345,Q13620,Q01105 48 |
| Incomitant strabismus 0.4042056419877494 0.7667929428495678 0.4432046329289947 1.0 0.8177420400398349 17 Q9UGU0,Q7LGA3,P55011,Q9BPU6,Q9Y296,Q12830,O75175,Q9H3S7,P42858 9 |
| Abnormal eyelid physiology 0.4951025761354455 0.7629052532690536 0.4455199030359673 1.0 0.8198215293826563 7 Q9NQZ5,O15160 2 |
| Spondyloepimetaphyseal dysplasia 0.5160646005668365 0.7583501373245096 0.4482413998338841 1.0 0.823163830793486 6 Q96HY6,Q96L58 2 |
| Aplasia hypoplasia of the ear 0.3191498767094942 0.7570569905261831 0.4490157197974114 1.0 0.8242529180132538 53 P46777,P61353,P18077,P61313,P42766,Q9Y619,P62847,P61254,O15160,P62244,Q13428,P04062,P39019,Q07020 14 |
| Coarctation of aorta 0.3311807411760848 0.7538481159819584 0.4509404281468048 1.0 0.8257489721997275 40 P46777,P61353,P18077,P21359,P42766,P61313,P62847,Q9UBM7,P61254,P62081,Q9Y4A5,P62244,P39019,Q07020 14 |
| Repetitive compulsive behavior 0.7411961706866557 0.7518421651003795 0.4521459817406086 1.0 0.8257489721997275 3 Q9H7D7 1 |
| Subcutaneous nodule 0.397173999076218 0.7514645214053576 0.4523731448756369 1.0 0.8257489721997275 18 P01889,P06280,Q13510 3 |
| Slender finger 0.3308348208225747 0.7508242515780397 0.4527584322134568 1.0 0.8257892463997546 40 P12955,P52788,Q9Y285,Q9BZI7,Q96L58 5 |
| Skin nodule 0.3869141227788048 0.7489205147130226 0.4539051147371569 1.0 0.8267506030074017 20 P01889,Q13510,P06280 3 |
| Acute myeloid leukemia 0.3486139634593322 0.7480039263181465 0.4544577892783306 1.0 0.8267506030074017 33 O75533,P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62081,P62244,P35658,P39019,Q07020 13 |
| Abnormality of the nasal bone 0.7398065129723536 0.7471955177398668 0.4549455493165995 1.0 0.8267506030074017 3 Q6NUK1 1 |
| Non midline cleft lip 0.5131742364900647 0.7463027666001297 0.4554845405763663 1.0 0.8271119033549272 6 Q96L58 1 |
| Juvenile cataract 0.4909195486322765 0.7445848250303111 0.456522744453373 1.0 0.827451254986632 7 Q01082,Q8WVX9,Q9H1A4 3 |
| Retrognathia 0.3052433431010346 0.7439178516988828 0.4569261747290691 1.0 0.8277463412323018 79 Q15392,Q9Y619,O60934,Q6NW34,Q7LGA3,P41227,O75844,Q4J6C6,Q6NUK1,Q15125,P04062,P37268 12 |
| Abnormal mitral valve physiology 0.3339979109953901 0.7418010247339971 0.4582078996228276 1.0 0.8279592984597185 37 P04062,O75844,P01889,P06280 4 |
| Abnormal epidermal morphology 0.3955460160941633 0.7417984796597765 0.4582094418614688 1.0 0.8279592984597185 18 O75844,P01889,P98194,Q06136 4 |
| Chronic lung disease 0.4902192367151774 0.7415244903987538 0.4583754881637774 1.0 0.8279592984597185 7 P12955 1 |
| Craniofacial dysostosis 0.645217812722 0.7405443707245495 0.4589697483791257 1.0 0.8279592984597185 4 Q6NUK1,O15160 2 |
| Coxa vara 0.4228783160066397 0.7398084038738034 0.4594162589937376 1.0 0.8279592984597185 11 O95831,Q96AY3,Q96HY6,Q9Y487 4 |
| Facial hypertrichosis 0.3136429368340291 0.7378376016467821 0.4606131406333771 1.0 0.8294684952316697 55 Q9UM00,P52788,Q16851,P54802,P15586 5 |
| Flank pain 0.7141396933560429 0.7372848131806052 0.4609491657073423 1.0 0.8297449946442145 2 P07741 1 |
| Monotonic speech 0.4875438683673638 0.7298519840848644 0.4654806649312217 1.0 0.833562253773898 7 P04062,O75165 2 |
| Abnormal speech prosody 0.4875438683673638 0.7298519840848644 0.4654806649312217 1.0 0.833562253773898 7 P04062,O75165 2 |
| Prominent nasal bridge 0.3242805393310326 0.7294198344061007 0.4657448887045983 1.0 0.833562253773898 47 Q9BZI7,P52788,P20700,Q92890,O60934,P13073,Q13426,P41229,Q9Y4A5,Q10471,P42892,Q15125,Q10713 13 |
| Abnormality of tibia morphology 0.420737936579255 0.7286982963371051 0.466186235176385 1.0 0.833562253773898 11 Q32P28,P21359 2 |
| Self mutilation 0.4167075050979273 0.7260756338886105 0.4677924054244053 1.0 0.8351205604494587 12 Q9UM00,Q9UBM7 2 |
| Abnormal salivary gland morphology 0.55457025920873 0.725580876537417 0.4680957479932952 1.0 0.8353341311324621 5 Q13428,P43246,P52701,P16615 4 |
| Abnormal emotion affect behavior 0.3219977250900733 0.7198781556439141 0.4716000187262867 1.0 0.8382250891535761 215 Q99496,P07602,O75503,Q9UBM7,P54802,O43772,P06865,Q15165,P01889,P35610,P50897,Q13510,P51572,Q15125,P04062,Q5KU26,P15289 17 |
| Abnormality of the musculature of the thigh 0.4735994687631052 0.7179940671446854 0.4727609449542918 1.0 0.8382250891535761 8 P50402 1 |
| Abnormal cerebral vascular morphology 0.3068657680814739 0.7164588967482288 0.4737080389530694 1.0 0.8382250891535761 62 P49257,Q99496,P10253,Q9Y4U1,O75844,P04062,Q96L58,P06280 8 |
| Aplasia hypoplasia of the phalanges of the hand 0.3205870583962869 0.7152257285495168 0.4744695734070792 1.0 0.8382250891535761 49 Q9BZI7,Q14739,P51798,O75844,O60826,Q6NUK1 6 |
| Acne inversa 0.6378258729462793 0.7143855847476841 0.4749887832584929 1.0 0.8382250891535761 4 Q92542 1 |
| Focal cortical dysplasia 0.7076660988074908 0.7137263500442751 0.4753964093444187 1.0 0.8382250891535761 2 P42345 1 |
| Cutaneous abscess 0.6369489659623142 0.7112962520492494 0.4769006736314722 1.0 0.8382250891535761 4 P53634 1 |
| Impaired collagen induced platelet aggregation 0.70698466780238 0.7112589046856469 0.4769238124826374 1.0 0.8382250891535761 2 P27797 1 |
| Pulmonary embolism 0.5044760431043404 0.7102490153588087 0.4775497302853622 1.0 0.8382250891535761 6 P01889 1 |
| 2 3 toe syndactyly 0.3537156475017685 0.7101934608878128 0.4775841753436958 1.0 0.8382250891535761 29 P55011,Q15125,Q9UBM7,Q9BZI7 4 |
| Onion bulb formation 0.4712755331705941 0.707580101274648 0.4792060535646159 1.0 0.8382250891535761 8 Q9NR77,P50570 2 |
| Thin lower lip vermilion 0.7056218057921781 0.706331272256954 0.4799821502047763 1.0 0.8382250891535761 2 Q7LGA3 1 |
| Aplasia hypoplasia of the distal phalanges of the hand 0.3510388729044854 0.7063076678681128 0.4799968259729934 1.0 0.8382250891535761 30 P51798,Q9BZI7,O75844,O60826 4 |
| Abnormality of the clitoris 0.3893278475411232 0.7050541100804557 0.4807765631212946 1.0 0.8382250891535761 18 P40855,Q9Y619,Q9UBM7 3 |
| Small face 0.3250938294167339 0.7028144555065623 0.4821713874115931 1.0 0.8396910373651911 41 Q9UGU0,P52788,Q9Y4L1,Q7LGA3,P55011,Q9Y296,O15160,O75175,Q9BZI7 9 |
| Peroneal muscle atrophy 0.6341803174112568 0.7015623976942367 0.4829521085645278 1.0 0.8404069030397658 4 Q9NR77 1 |
| Esophageal stenosis 0.5021729145421522 0.7007566226422852 0.4834549128077845 1.0 0.8407888154183583 6 P01889 1 |
| Biparietal narrowing 0.4151714682724006 0.6999312451099262 0.4839702434491246 1.0 0.8412128046495297 11 O75845,Q13426,Q10713,Q9UBM7 4 |
| Abnormal circulating copper concentration 0.7252897068847945 0.6990825791700077 0.4845004248989264 1.0 0.8414909977140635 3 Q9Y487,O43819 2 |
| Delayed ability to sit 0.3963086910938268 0.6987809125820992 0.4846889588771881 1.0 0.8414970202422964 16 P24928,P10253,P18583,Q9BPU6,Q9H7D7,P43034,Q10471,Q10713 8 |
| Oculomotor apraxia 0.3786861703380169 0.697953609449599 0.4852062063287521 1.0 0.8417522396706737 20 O14773 1 |
| Amaurosis fugax 0.4683790302088562 0.6946365629296444 0.4872830925690286 1.0 0.8430812194431339 8 P01889 1 |
| Diminished ability to concentrate 0.6321172860552304 0.6943295021408566 0.4874755935098593 1.0 0.8430812194431339 4 Q01082,P54098,Q96RR1 3 |
| Astigmatism 0.320448161319055 0.6940657193179617 0.4876409956312826 1.0 0.8430812194431339 47 Q969N2,Q99496,Q10471,Q7LGA3,P55011,Q07021,Q9Y296,O75175,Q9ULH0,P10412,Q6NUK1 11 |
| Abnormal chorioretinal morphology 0.3755145524663665 0.6929126805439507 0.4883643513695124 1.0 0.8436902377192906 21 P04439,Q99622,P40855,O43505,P41227,O60826,P56589,Q9Y619 8 |
| Subcutaneous hemorrhage 0.3241647445625167 0.6920891805190683 0.4888813258141002 1.0 0.8442571208345555 38 P12955,Q14108,P51798,P04062,Q96L58 5 |
| Abnormality of the achilles tendon 0.4026484533173155 0.6917985702012385 0.4890638346774179 1.0 0.8442571208345555 14 Q9BTV4,P50402 2 |
| Gastrointestinal inflammation 0.3867768954764389 0.6900663626467803 0.4901524552701337 1.0 0.8454943907865319 18 P01889,P08183,P50851 3 |
| Abnormality of corneal size 0.3237453455798948 0.6883958424592002 0.4912035412512852 1.0 0.8465986486182832 39 O75845,Q15125,O43505,Q96L58 4 |
| Abnormal mean corpuscular volume 0.3657635015037647 0.6873615333590701 0.4918549315670468 1.0 0.8465986486182832 24 P46777,P61353,P18077,P61313,P42766,P61254,P62847,P62081,P62244,P39019,Q07020 11 |
| Long palpebral fissure 0.3684483474468447 0.6836096446984362 0.494221692785596 1.0 0.8465986486182832 23 Q9BZI7,Q5KU26,P20700 3 |
| Glaucoma 0.2927280144200674 0.6835780447041293 0.4942416524870889 1.0 0.8465986486182832 87 P61353,Q92890,P42766,P62847,O60826,Q15125,O43837,Q07020,P12235,P18077,Q9UBM7,P21359,P40855,P61313,P62081,Q86XL3,P56589,Q96L58,P46777,Q15645,O43505,P39019,P62244,P41227,Q06136,O96011,P61254 27 |
| Abnormality of ocular smooth pursuit 0.3684068219636852 0.6833405344335423 0.4943916863787483 1.0 0.8465986486182832 23 Q9NZJ4,P46977,Q13426,O14773,Q10713 5 |
| Bradycardia 0.4117683986684137 0.6824409094791666 0.4949601951372488 1.0 0.8465986486182832 11 O43772 1 |
| Impaired tandem gait 0.3895351702992656 0.6820113676148091 0.4952317628743041 1.0 0.8465986486182832 17 Q9UGU0,Q7LGA3,P55011,Q9BPU6,Q9Y296,Q12830,O75175,Q9H3S7,P42858 9 |
| Abnormality of the synovia 0.300939084733784 0.6784595000570282 0.4974803943091603 1.0 0.8465986486182832 77 Q99622,P16278,Q9UBM7,O94979,Q96AY3,P55011,O75844,Q96L58 8 |
| Small earlobe 0.4750568508543964 0.6757976758811426 0.4991691105058591 1.0 0.8465986486182832 7 P52788 1 |
| Dyspareunia 0.7178474868828997 0.6747404278918017 0.499840694471712 1.0 0.8465986486182832 3 P01889 1 |
| Thromboembolism 0.6263034122998068 0.6740423777473835 0.500284371859617 1.0 0.8465986486182832 4 Q9Y4U1 1 |
| Abnormality of fluid regulation 0.3048260259217192 0.6737434771208032 0.5004744155456224 1.0 0.8465986486182832 158 Q99496,Q14739,P10619,P16278,Q9UBM7,P52788,Q14108,P04439,P42766,P35610,Q13510,Q15125,P04062,P01889,P06280 15 |
| Hyperextensible skin 0.3992172124665513 0.6733018380738223 0.5007552836473947 1.0 0.8467587485104886 14 P04062 1 |
| Abnormality of the curvature of the vertebral column 0.3123932529747883 0.6714339005343045 0.5019441547386165 1.0 0.8475226427218273 297 Q9BTV4,P20700,Q99720,Q14108,P55011,Q92890,Q9NZJ4,Q9Y296,O75844,Q9Y487,O60826,Q9H4A3,Q9Y4A5,Q15125,Q5KU26,P04066,Q9UM00,Q14739,P51648,P16278,Q9UBM7,Q9BT22,Q13510,Q9NR77,Q96L58,P50570,Q96HY6,P52788,Q6NW34,Q7LGA3,Q6ZXV5,Q32P28,O75175,Q9H490,P10412,Q6NUK1,P04062,P48735,P35637,P50402,Q96AY3,Q9H0B6,P41227,Q9Y285,Q9BZI7,P01889,Q01105 47 |
| Mild global developmental delay 0.3946811035418903 0.6706160479494425 0.5024651565300833 1.0 0.8477584663236692 15 P12955,Q9H7D7 2 |
| Enamel hypoplasia 0.4055381513137063 0.6676651288682565 0.5043473739457558 1.0 0.8497750858125461 12 P51648,P21359 2 |
| Everted upper lip vermilion 0.5393383768587978 0.6673301344932201 0.5045612819083898 1.0 0.8497750858125461 5 P41227,P04062 2 |
| Deviated nasal septum 0.6947189097103865 0.6672717683364275 0.5045985560406985 1.0 0.8497750858125461 2 P21359 1 |
| Vocal cord paralysis 0.3782519299379303 0.6660483264108961 0.5053802116288955 1.0 0.8501001364151997 19 Q9BTV4,Q9NR77,P50402,P21359 4 |
| Abnormal muscle fiber type distribution 0.4299599540005919 0.6658050962911006 0.5055356870170882 1.0 0.8501001364151997 10 O75340,P51114,P50570 3 |
| Recurrent lower respiratory tract infections 0.3702470438425801 0.6600648320324155 0.5092122257277452 1.0 0.8534419426406403 21 Q00577,P12955,O60934,P20700,P50851 5 |
| Aplasia hypoplasia involving the femoral head and neck 0.4604432338252148 0.6593939481555904 0.5096428273123039 1.0 0.8538489078073124 8 Q96HY6,Q96L58 2 |
| Tented upper lip vermilion 0.3574216673819492 0.6552960436516024 0.5122771675715456 1.0 0.8557400003482064 25 Q969N2,Q00577,Q13045,O60762,Q4J6C6,Q10471,Q9Y263 7 |
| Intestinal fistula 0.535750937142812 0.6537651127300746 0.513263146247398 1.0 0.8560915122532874 5 Q13428,O15160 2 |
| Rectal fistula 0.535750937142812 0.6537651127300746 0.513263146247398 1.0 0.8560915122532874 5 Q13428,O15160 2 |
| Vaginal fistula 0.469857460803353 0.6535186611557809 0.5134219628841452 1.0 0.8560915122532874 7 Q13428,O15160 2 |
| Urogenital fistula 0.469857460803353 0.6535186611557809 0.5134219628841452 1.0 0.8560915122532874 7 Q13428,O15160 2 |
| Respiratory insufficiency 0.3082790934429937 0.6532156658107534 0.5136172521282094 1.0 0.8560915122532874 172 Q9BTV4,P07602,P10253,Q00577,O43772,P06280,Q14739,P13473,P40855,Q9BT22,O43676,P56589,Q13510,Q9NR77,Q96L58,P61916,P50570,O60934,O95342,Q6NUK1,P19404,P33991,P50402,Q8IUX1,Q96AY3,Q15165,P35637,O96011,Q9Y619 29 |
| Airway obstruction 0.3911420053371425 0.651307859948091 0.5148477756118313 1.0 0.8561861878273549 15 Q96HY6,O75844,P09601,P06280 4 |
| Onset 0.2771991897448058 0.6502093183739862 0.5155570227119635 1.0 0.8561861878273549 373 P07602,P20700,P55011,P06865,P38571,P50897,Q9H4A3,O14773,Q5JRX3,Q15125,Q5KU26,P06280,P16278,P54802,P11233,Q9ULH0,Q05682,Q13510,Q9NR77,P07686,P61916,Q8IV08,P12955,O95342,Q6ZXV5,O43505,O15118,Q4J6C6,Q9H490,Q6NUK1,P04062,P35241,Q99496,P50402,Q96N66,Q9Y4U1,Q9NQZ5,P41227,P51798,O60762,Q9Y285,Q9BZI7 42 |
| Focal white matter lesions 0.4895516045657049 0.649184246992981 0.5162192926250209 1.0 0.8569730279539868 6 P42345,P12235,Q96RR1 3 |
| Hemoglobinuria 0.7097729526706295 0.648599612500579 0.5165972060456825 1.0 0.8572874072590212 3 Q969N2 1 |
| Inverted nipples 0.4570414092316943 0.6443922810932794 0.5193210886489139 1.0 0.8601997234737119 8 Q969N2,O60762,P56589 3 |
| Trigonocephaly 0.4043043387518734 0.6443602993785089 0.5193418223940278 1.0 0.8601997234737119 11 O60762,P20700 2 |
| Aortic aneurysm 0.3059248468169665 0.6431783440823899 0.5201083835799303 1.0 0.8609147506872744 54 Q99622,Q7LGA3,Q6ZXV5,P55011,Q9Y296,O15460,O75175,O75844,Q6NUK1,P01889,Q96L58 11 |
| Aplasia hypoplasia affecting bones of the axial skeleton 0.3179766636666435 0.6428294605787329 0.5203347646434748 1.0 0.8609760461549781 227 Q00577,P61353,O94979,P42766,P55011,P62847,Q92890,Q8WWQ0,Q9Y296,O75844,Q9Y4A5,O60826,Q15125,Q13428,Q07020,P04066,Q9UM00,Q14739,Q99622,P16278,P18077,P21359,Q9UBM7,P40855,P61313,Q9BT22,P36776,Q9H7D7,P62081,Q9ULH0,P41229,Q86XL3,P56589,Q6NUQ1,Q96L58,Q969N2,Q96HY6,Q15645,P46777,P12955,Q15392,O60934,Q7LGA3,Q9UBN7,Q13045,O75175,Q13426,Q6NUK1,P04062,P37268,P39019,Q9Y263,O75845,Q9UGU0,Q9Y4L1,P62244,O15160,P41227,O60762,O96011,Q9BZI7,Q9Y619,Q04721,P61254 64 |
| Abnormal fingertip morphology 0.3418593515272004 0.6389600733227181 0.5228489061382966 1.0 0.8640648432389324 30 Q7LGA3,P55011,Q9Y296,P41227,O75175,O75844,P50851 7 |
| Hyperactive patellar reflex 0.444682408488074 0.6376576395423162 0.5236965659919302 1.0 0.8643369457587319 9 O95394,Q9NZJ4,Q15041 3 |
| Ketoacidosis 0.4234814416824257 0.6346811755224908 0.525636373403048 1.0 0.8659668803853838 10 P53985,P35610 2 |
| Abnormal choroid morphology 0.3633225616534504 0.6326164157354536 0.5269841645118678 1.0 0.866930895816014 22 P04439,Q99622,P40855,O43505,P41227,O60826,P56589,Q9Y619 8 |
| Narrow face 0.3207554964271836 0.6315766338117687 0.5276635589663881 1.0 0.8674740535911672 37 Q9UGU0,P52788,Q7LGA3,P55011,Q9Y296,O75175,Q9BZI7 7 |
| Abnormal neutrophil count 0.2991155034418627 0.6297619361569528 0.5288503529780995 1.0 0.867675784148833 64 P61353,P61254,P42766,P62847,O95394,P26038,Q07020,O75533,Q14739,P18077,P61313,P02786,P05165,P46777,P39019,Q96BN8,Q9Y4U1,Q9Y3C6,P62244,P50851,Q9H1A4 21 |
| Limb muscle weakness 0.298395267093788 0.6293268790864873 0.52913507768734 1.0 0.867675784148833 73 Q9NR77,Q14739,Q13510,Q99720 4 |
| Bone marrow hypocellularity 0.3599729751594449 0.6290617327039209 0.5293086419583379 1.0 0.867675784148833 23 O75533,Q14739,O60934,P51798,O95394,P61254 6 |
| Lens luxation 0.7028368258098393 0.6263821461684191 0.5310643172320604 1.0 0.8692794782067719 3 Q99622 1 |
| Abnormal circulating branched chain amino acid concentration 0.5281343013430208 0.6251799161392178 0.5318529818278512 1.0 0.8692794782067719 5 Q96RQ3,P21953 2 |
| Joint dislocation 0.2877790326924904 0.6226783881082552 0.5334958875440048 1.0 0.870706174170597 87 Q9UBM7,Q9Y619,Q6ZXV5,P55011,O94979,P51798,O75844,Q15125,Q96L58 9 |
| Constitutional symptom 0.3166684559003379 0.6196356921816827 0.5354976626032473 1.0 0.8726709483504466 231 Q9BTV4,P07602,P20700,Q99720,Q14108,P46020,Q92890,Q9NZJ4,O75844,Q8WVX9,Q8N1F7,P42892,P06280,P12235,Q14739,Q4G176,P35610,Q13510,Q9NR77,P07686,P50570,Q969N2,Q96HY6,P11166,O95342,Q04446,Q07021,O15460,Q4J6C6,P04062,P48735,P15289,Q99496,P50402,Q8IUX1,O96011,Q96BN8,Q9Y5K6,Q15165,P51798,Q13423,P52565,P35637,Q10471,Q9BZI7,P01889 46 |
| Abnormal neuron morphology 0.3426935569359813 0.6181823740429602 0.5364551274339455 1.0 0.8733481791772826 28 Q13510,Q99720 2 |
| Erythema 0.3581216371837849 0.6172545351054157 0.5370668499286513 1.0 0.8737184138195268 23 P51648,P12955,P98194,Q13426,Q06136,Q15125,P01889,Q9H1A4 8 |
| Reduced consciousness confusion 0.2848768608705873 0.6146741429560165 0.538769939207868 1.0 0.8744821000896762 124 P07602,P61353,P42766,P62847,O43772,Q07020,P12235,P18077,Q9UBM7,P61313,P36776,O43676,P35610,O96008,P05165,Q9Y697,P46777,P11166,P19404,P04062,P39019,P15289,Q99496,Q8IUX1,Q9Y4U1,P41227,Q13423,P62244,Q9Y619,P01889,P61254,Q96RQ3 32 |
| Hypertelorism 0.3125297470605794 0.6093594411232331 0.5422862154553783 1.0 0.8765643162728776 201 P61353,P20700,Q92890,P42766,P55011,P62847,P61254,Q8WWQ0,Q9Y296,O75844,Q9Y487,O60826,Q9Y4A5,Q8WVX9,Q15125,Q13428,Q07020,P04066,Q9UM00,Q14739,Q99622,P16278,P18077,P21359,Q9UBM7,Q14004,P61313,Q9BT22,P56589,Q96L58,P46777,P52788,P12955,Q7LGA3,Q13045,O75175,Q6NUK1,P04062,P39019,Q99496,Q9UGU0,P62244,O15160,O60762,Q10471,Q04721,Q01105 47 |
| Chondrosarcoma 0.6971040261125421 0.6081941874951005 0.5430586892271401 1.0 0.8775010163169175 3 P48735 1 |
| Reduced tendon reflexes 0.2996096628102868 0.6056716606831779 0.5447328061148344 1.0 0.8788198029883422 157 Q9BTV4,P07602,P10253,Q99720,Q9NZJ4,Q9Y3B2,Q9H4A3,O95394,P40855,P54802,Q9BT22,P35610,Q13510,P56589,Q9NR77,P50570,O43505,P04062,P15289,P50402,Q96AY3,Q9H0B6,Q15041,P35637,O96011 25 |
| Typical absence seizure 0.3863819106093843 0.6049611103774335 0.5452048370004454 1.0 0.8788198029883422 14 Q01105,Q13510 2 |
| Abnormality of dental structure 0.2967349211671318 0.6034313201149999 0.5462217918240171 1.0 0.880110023892206 70 P51648,P16278,Q9UBM7,P12955,P55011,Q96AY3,O75844,P51798,Q96L58,Q9H1A4 10 |
| Atonic seizure 0.3674886896321257 0.602399953144256 0.5469079411937032 1.0 0.8804174476877777 19 Q01105,Q13510 2 |
| Premature osteoarthritis 0.6752981260647561 0.5994355651047809 0.548882466371561 1.0 0.8810242570815433 2 Q96HY6 1 |
| Flattened femoral epiphysis 0.6752981260647299 0.5994355651046906 0.5488824663716212 1.0 0.8810242570815433 2 Q9NUQ7 1 |
| Dry skin 0.3293181215746815 0.5993784481152246 0.5489205454831785 1.0 0.8810242570815433 33 Q99496,P51648,P12955,Q06136,P37268,P04066 6 |
| Facial asymmetry 0.3230366962064763 0.5956908795412759 0.5513817521967521 1.0 0.8835400813717388 35 Q00577,P52788,Q01105 3 |
| Aplasia hypoplasia of the earlobes 0.4457622755466578 0.5951570406608714 0.5517385031273523 1.0 0.883675580739722 8 P52788 1 |
| Multifactorial inheritance 0.3911986425437121 0.5940466011356905 0.5524809446691539 1.0 0.884159719364784 12 P42892,P01889 2 |
| Esophageal stricture 0.6026883374789267 0.5932512350664774 0.553013028782372 1.0 0.884159719364784 4 O95394,P01889 2 |
| Alopecia 0.3103991026689734 0.5897931730368023 0.5553293202227652 1.0 0.8856197964253435 45 O15460,O75844,Q06136,Q15125,P01889 5 |
| Decreased circulating antibody level 0.3188700525872352 0.588199835723019 0.5563981676458409 1.0 0.8856197964253435 36 Q969N2,Q13724,Q9Y4L1,P18583,O60934,P02786,P13051,Q6PGP7,P09601,P42345,P26038,P14174,P50851 13 |
| Abnormality of macular pigmentation 0.6011393729445915 0.5880512353345463 0.5564979033342101 1.0 0.8856197964253435 4 Q9UM00 1 |
| Venous insufficiency 0.5180501189459779 0.5878201147709197 0.5566530411664024 1.0 0.8856197964253435 5 P04062 1 |
| Varicose veins 0.5180501189459779 0.5878201147709197 0.5566530411664024 1.0 0.8856197964253435 5 P04062 1 |
| Hypomimic face 0.3896059144178464 0.585979338937414 0.557889399265802 1.0 0.8868214522328752 12 P12235,P04062,Q96QK1,O75165 4 |
| Allergy 0.473748248353101 0.5858245254533326 0.5579934406945801 1.0 0.8868214522328752 6 O95394,Q01082 2 |
| Abnormal circulating bilirubin concentration 0.3379445362159999 0.5850115634388875 0.5585399415493142 1.0 0.8870608564741395 28 O95342,P40855,Q14739 3 |
| Abnormality of toe 0.2988776674324618 0.5847299141550052 0.558729336472825 1.0 0.8870608564741395 159 Q99720,P55011,O75844,O60826,Q9H4A3,Q15125,Q9UM00,Q14739,Q9UBM7,P11233,Q13510,Q9NR77,Q96L58,P52788,O75175,P04062,O75845,P41227,O60762,Q9BZI7 20 |
| Severe short limb dwarfism 0.5997394814615065 0.5833630320183714 0.5596489385643277 1.0 0.887856976489135 4 Q14739 1 |
| Cerebellar cortical atrophy 0.6888568959884429 0.5823221926261815 0.5603496797675946 1.0 0.8880829536086626 3 O75845 1 |
| Abnormal hair pattern 0.2785204687311121 0.581351362871247 0.5610036702030752 1.0 0.8882991451242082 117 P61353,P42766,P55011,P62847,Q9Y296,O75844,O60826,Q13428,Q07020,Q9UM00,P18077,P21359,Q16851,P40855,P61313,P62081,P41229,P46777,P12955,O60934,Q6NW34,Q7LGA3,P11166,O75175,Q13426,Q6NUK1,P39019,Q9UGU0,O15160,P62244,Q04721,P61254 32 |
| Aplasia hypoplasia of the femur 0.3852918472310391 0.5808115134165724 0.5613674945302489 1.0 0.8882991451242082 13 O95831,Q96HY6,Q14839,O14802,Q99575,Q96L58 6 |
| Atrophy degeneration affecting the central nervous system 0.3098175907321951 0.5753575655118081 0.5650494967563002 1.0 0.8906929572860592 284 P07602,O75503,Q00577,P20700,Q99720,P55011,Q9NZJ4,Q9Y296,Q9Y3B2,Q9Y4A5,P50897,Q8WVX9,O14773,Q5JRX3,Q5KU26,O75165,P04066,Q9UM00,P16278,Q16851,P40855,Q9BT22,Q9ULH0,Q05682,Q13510,O96008,P05165,Q86SZ2,Q969N2,O60934,Q7LGA3,P11166,P13073,P15311,O15118,O75175,Q96QK1,Q9H490,Q6DKK2,P19404,Q9H269,P04062,Q9Y263,O75845,Q9UGU0,Q96N66,Q01433,Q9Y4U1,Q9Y320,Q15165,P41227,O60762,P35637,P51572,Q9Y619,Q01105 56 |
| Babinski sign 0.2858293544285181 0.5743650753378077 0.5657207812040244 1.0 0.8906929572860592 85 Q9BZI7,P07602,Q99720,O14773,Q9NR77,P15289 6 |
| Abnormal renal pelvis morphology 0.2985954773142263 0.5720920976584853 0.5672595824806743 1.0 0.8906929572860592 54 Q9UBM7,P20700,O60934,P40855,O43505,O60826,P56589,Q15125 8 |
| Multifocal epileptiform discharges 0.3412809330835197 0.5717723398980631 0.5674762186101692 1.0 0.8906929572860592 26 P55011,O75503 2 |
| Color vision defect 0.3890115987069542 0.5677310677266516 0.5702175925211159 1.0 0.892926473577726 11 Q9H061,Q9Y6X9 2 |
| Abnormal cns myelination 0.2865909225956483 0.5670624923000929 0.5706717247013133 1.0 0.892926473577726 134 P07602,P10253,Q00577,P20700,Q99720,Q9Y3B2,Q8WVX9,O95394,P51648,P40855,O43676,Q9H7D7,Q9ULH0,P07686,Q7LGA3,O75175,Q9H490,P19404,P15289,Q8IUX1,Q9Y4U1,Q9Y3C6,P35637,P51572 24 |
| Proportionate tall stature 0.6647359454855157 0.56358244948374 0.5730383337589149 1.0 0.8953970115470142 2 P21359 1 |
| Elevated circulating growth hormone concentration 0.6647359454855133 0.5635824494837318 0.5730383337589204 1.0 0.8953970115470142 2 P10644 1 |
| Pituitary prolactin cell adenoma 0.6647359454855133 0.5635824494837318 0.5730383337589204 1.0 0.8953970115470142 2 P10644 1 |
| Abnormal granulocytopoietic cell morphology 0.6826343794925522 0.5630419787236235 0.5734062991366646 1.0 0.8954504671636929 3 Q07020 1 |
| Sepsis 0.3716051345257387 0.5625085416805223 0.5737695856075335 1.0 0.8954504671636929 16 P02786,Q9BT22,O95394,P42892,P01889,P50851 6 |
| Premature ventricular contraction 0.4677994306401931 0.5623754044844738 0.5738602729964815 1.0 0.8954504671636929 6 P41227,O43772 2 |
| Abnormality of adrenal morphology 0.3395707130616021 0.5603870293663329 0.5752154768397184 1.0 0.8968825218554962 26 P38571,O75844,O60826 3 |
| Small hand 0.3265056409348946 0.5596077010118753 0.5757470509213127 1.0 0.8968825218554962 32 Q99496,Q96EK5,P18583,Q9UQE7,O75175,O60762,Q10471,Q9Y619,Q13620 9 |
| Abnormal nipple morphology 0.2956682849094881 0.5595824797412419 0.5757642580374298 1.0 0.8968825218554962 55 Q969N2,Q9UGU0,Q9UM00,P52788,Q5SRE5,Q9UBM7,P21359,Q7LGA3,Q8WWQ0,Q9Y4A5,O60826,O60762,P56589,Q6NUK1 14 |
| Restlessness 0.3080834958456682 0.5565384625277374 0.5778428084457339 1.0 0.8988907850233121 39 P42892,P04062,P35610 3 |
| Thick eyebrow 0.3065241676413298 0.55597092695131 0.5782307297257598 1.0 0.8988907850233121 45 Q9UM00,P15586,P04066 3 |
| Abnormal granulocyte count 0.2921737055390692 0.5535969055924683 0.579854744243274 1.0 0.8995495938188156 69 P61353,P61254,P42766,P62847,O95394,P26038,Q07020,O75533,Q14739,P18077,P61313,P02786,P05165,P46777,P39019,Q9Y4L1,Q96BN8,Q9Y4U1,Q9Y3C6,P62244,P50851,Q9H1A4 22 |
| Early onset of sexual maturation 0.3061938610164639 0.5531054201671599 0.5801912254072756 1.0 0.8995495938188156 45 Q969N2,Q9UBM7,Q7LGA3,P55011,Q9Y296,Q13045,O75175,Q13423,P48735 9 |
| Abnormal renal cortex morphology 0.3019261663165324 0.5527546353914217 0.5804314359251919 1.0 0.8995495938188156 50 Q14108,Q9Y4U1,Q9Y5K6,P52565,Q8N1F7,P01889,P06280 7 |
| Biliary atresia 0.6792260632008003 0.5525728924754605 0.5805559082209661 1.0 0.8995495938188156 3 Q10713 1 |
| Tetraparesis 0.3143620933156442 0.5525520719753843 0.5805701685869666 1.0 0.8995495938188156 36 P07602,Q16851,P20700,Q9Y296,Q8WVX9,P35637 6 |
| Long penis 0.6613287904599594 0.5521866342389987 0.580820490716146 1.0 0.8995495938188156 2 O00170 1 |
| Aplasia hypoplasia involving bones of the lower limbs 0.2819391342564189 0.5521587574554493 0.5808395881794683 1.0 0.8995495938188156 87 Q8N0X7,P55011,Q9Y296,Q9Y4A5,Q99622,Q9UBM7,P41229,Q13510,Q96L58,Q96HY6,Q9UQE7,Q7LGA3,P13073,Q9UBN7,O75175,Q99496,O95831,Q9UGU0,Q96AY3,Q10471,Q9Y619,Q04721,Q13620,Q9H1A4 24 |
| Extrapyramidal dyskinesia 0.6783420283037764 0.5498682973354835 0.5824097100871921 1.0 0.9007982044364546 3 P35610 1 |
| Recurrent skin infections 0.3719988406128718 0.5488992705845327 0.5830745787803555 1.0 0.9007982044364546 15 O95394,P02786,P53634 3 |
| Abnormal parotid gland morphology 0.6599659284497412 0.5476523432407304 0.5839306410351077 1.0 0.9015730474657504 2 Q13428 1 |
| Highly arched eyebrow 0.2905646040496524 0.5444222520338688 0.5861509366597961 1.0 0.9021013158707591 57 Q99496,Q96EK5,Q9UM00,Q9UGU0,Q99622,Q5SRE5,Q16851,Q9UQE7,P55011,Q7LGA3,Q9Y296,O75175,Q9Y4A5,Q8WVX9,Q5KU26,Q10713 16 |
| Functional abnormality of the gastrointestinal tract 0.3112216830181488 0.5425841305720291 0.5874161677609249 1.0 0.9021013158707591 259 P07602,P20700,Q99720,Q14108,P55011,P08183,P15586,O60826,Q9H4A3,P42892,P06280,Q14739,Q9UBM7,Q13510,Q9NR77,P61916,O60934,Q6ZXV5,O15118,O15460,Q6NUK1,P04062,Q99496,Q9Y619,P01889,Q01105 26 |
| Proximal amyotrophy 0.3809447595040636 0.5425443285640295 0.587443578586764 1.0 0.9021013158707591 12 Q9BTV4,P50402,P35637,Q9Y6X9 4 |
| Abnormality of the sense of smell 0.3707391842441604 0.5422968605362736 0.587614018017343 1.0 0.9021013158707591 15 Q99496,P04062,Q96QK1,O75165 4 |
| Flattened epiphysis 0.6755282890252159 0.5412902036102561 0.5883075717015813 1.0 0.9021013158707591 3 O95831,Q9NUQ7 2 |
| Narrow vertebral interpedicular distance 0.675528289025215 0.5412902036102536 0.5883075717015831 1.0 0.9021013158707591 3 Q96HY6,P10644 2 |
| Abnormality of the calvaria 0.3114634167016767 0.5371984764042824 0.5911305235836335 1.0 0.9021013158707591 247 P20700,O75844,P15586,O60826,Q9H4A3,Q15125,P04066,Q9UM00,Q14739,P16278,Q9UBM7,Q16851,P40855,P54802,Q9ULH0,P56589,Q96L58,P52788,Q15392,Q9UBN7,Q32P28,O75175,Q4J6C6,Q6NUK1,P04062,O75845,Q96AY3,P41227,P51798,O60762,Q10471,Q9BZI7,Q9Y619,Q01105 34 |
| Infection related seizure 0.3518830360305647 0.5365512279128491 0.5915776411711708 1.0 0.9021013158707591 20 P12955,P20700,Q96N66,Q9H7D7,Q8WVX9 5 |
| Limb dysmetria 0.6565587734241867 0.5363778547555869 0.591697433277651 1.0 0.9021013158707591 2 P21359 1 |
| St segment elevation 0.6565587734241842 0.5363778547555775 0.5916974332776574 1.0 0.9021013158707591 2 P46976 1 |
| Focal motor status epilepticus 0.6565587734241842 0.5363778547555775 0.5916974332776574 1.0 0.9021013158707591 2 Q96RR1 1 |
| Abnormal st segment 0.6565587734241842 0.5363778547555775 0.5916974332776574 1.0 0.9021013158707591 2 P46976 1 |
| Oral pharyngeal dysphagia 0.3796690708287789 0.5362123580536905 0.5918117935435396 1.0 0.9021013158707591 12 Q13510 1 |
| Brachycephaly 0.2899664790018166 0.5327247957573396 0.5942240991303858 1.0 0.9037465923900256 65 Q9BZI7,Q9UM00,P52788,Q96AY3,O75175,Q9ULH0,Q6NUK1,P04062,P04066 9 |
| Biventricular hypertrophy 0.6551959114139627 0.5318929016841366 0.5948001738583508 1.0 0.9037465923900256 2 P37837 1 |
| Encephalocele 0.3808720880241001 0.5278364990739696 0.5976128218295049 1.0 0.9037465923900256 11 Q6ZXV5,Q13428,O43505,O15160 4 |
| Periodontitis 0.4197223763182761 0.5265035714049072 0.5985383712486341 1.0 0.9037465923900256 9 O00203,P53634,P61011,Q5JRA6,Q04721,O60832 6 |
| Soft skin 0.4389376623436798 0.5244848142574158 0.599941379243659 1.0 0.9037465923900256 7 Q14807,Q96L58,P18583 3 |
| Hypoplastic ilia 0.3992120541948777 0.5209505634748675 0.6024012104005108 1.0 0.9037465923900256 10 Q9UBN7,Q96L58 2 |
| Neoplasm of the gastrointestinal tract 0.2780622825948359 0.5187696100862814 0.6039214126170789 1.0 0.9037465923900256 88 Q99496,P07602,O95342,P42766,P11717,P42892,P15289 7 |
| Prominent digit pad 0.3445859053922246 0.5172554132509876 0.6049778742614655 1.0 0.9037465923900256 22 Q9UGU0,Q7LGA3,P55011,Q9BPU6,Q9Y296,P62266,Q12830,O75175,Q9H3S7,P41227,P42858,Q8N766 12 |
| Generalized tonic seizure 0.3659130694166383 0.5171773226612146 0.6050323808629043 1.0 0.9037465923900256 15 Q969N2,P67870,O60762,Q01105 4 |
| Abnormal proportion of cd4 positive t cells 0.4983932642445494 0.5168051322232677 0.6052921970301144 1.0 0.9037465923900256 5 Q96BN8 1 |
| Aspiration 0.398199972946566 0.5163213937114278 0.6056299566078169 1.0 0.9037465923900256 10 P06865 1 |
| Hypoplastic labia majora 0.3784423992361586 0.516063099259989 0.6058103394776333 1.0 0.9037465923900256 11 Q9Y619 1 |
| Abnormal labia majora morphology 0.3784423992361586 0.516063099259989 0.6058103394776333 1.0 0.9037465923900256 11 Q9Y619 1 |
| Abnormal blistering of the skin 0.3519553702811872 0.5129124041886255 0.6080125961745682 1.0 0.9041836996895768 19 P51798,P01889,Q06136 3 |
| Deviation of the hallux 0.3257403119615903 0.5116944052605713 0.6088649023138548 1.0 0.9041836996895768 29 Q7LGA3,P55011,Q9Y296,O75175,P04062,Q96L58 6 |
| Disturbance of facial expression 0.496694207054267 0.5107911092405426 0.6094973353617914 1.0 0.9041836996895768 5 Q9NR77 1 |
| Abnormal libido 0.6649625085207849 0.5095025818066132 0.6103999890933844 1.0 0.9041836996895768 3 Q8WWQ0,P42858 2 |
| Abnormality of the inner ear 0.3966451795373517 0.5092297814365804 0.6105911703516067 1.0 0.9041836996895768 10 Q13428,Q9Y619,O15160 3 |
| Poikilocytosis 0.3710244075965807 0.508662439314077 0.6109888544940292 1.0 0.9041836996895768 13 O75845,Q05682 2 |
| Pain in head and neck region 0.6646518584466676 0.5085784153293981 0.6110477617083612 1.0 0.9041836996895768 3 Q99496 1 |
| Abnormal blood glucose concentration 0.2781457021825079 0.5072447451006129 0.6119831030152738 1.0 0.9041836996895768 87 P11498,P53985,Q8IUX1,Q9Y4U1,O43772,Q4G176,O43676,O75844,Q4J6C6,P35610,Q13423,P19404,P05165,Q96RQ3 14 |
| Urinary urgency 0.3961936882856055 0.5071750401803186 0.612032006498098 1.0 0.9041836996895768 10 P04062,Q9NZJ4,P20700 3 |
| Gastritis 0.4951652367634933 0.5053972471247834 0.6132798519908509 1.0 0.9041836996895768 5 P50851 1 |
| Stenosis of the external auditory canal 0.433898958174767 0.5041204582654545 0.6141767313400739 1.0 0.9041836996895768 7 P55011 1 |
| Hyperreflexia 0.3087649827203229 0.5038245553672839 0.614384670566134 1.0 0.9041836996895768 228 P07602,O75503,P20700,Q99720,O94979,P55011,Q9NZJ4,Q8WVX9,O14773,Q5JRX3,O95394,Q5KU26,O43837,Q6UVJ0,P11498,Q14739,Q16851,P40855,Q9ULH0,Q86XL3,P56589,Q9NR77,P07686,Q86SZ2,Q969N2,O75027,P11166,P19404,P04062,O14949,P15289,Q99496,Q96N66,Q01433,Q9Y320,Q9H0B6,Q9Y3C6,Q15041,O60762,P35637,O96011,Q9Y619,P01889,Q96RQ3 44 |
| Aplasia hypoplasia of fingers 0.2755405828958711 0.5019901237977206 0.6156744681684867 1.0 0.9050991939095082 89 P61353,P42766,P62847,O75844,O60826,Q07020,P18077,Q9UBM7,P61313,P31150,P62081,P41229,Q13510,P46777,Q9UQE7,Q6NW34,P13073,Q6NUK1,P39019,O95831,P51798,P62244,Q9BZI7,Q04721,P61254 25 |
| Submucous cleft soft palate 0.6615541922290327 0.499396649636293 0.6174999790000033 1.0 0.9061455699071632 3 Q15233,P18583 2 |
| Psychosis 0.325415834668 0.4993012915597779 0.6175671453905802 1.0 0.9061455699071632 28 Q5JRX3,Q9BZI7,P61916,O15118 4 |
| Cleft lip 0.2923316831004618 0.4991524721153842 0.6176719742065293 1.0 0.9061455699071632 53 Q9UM00,P46777,P61353,P18077,P61313,P42766,O60934,P62847,P61254,Q13045,O15160,P41227,Q9Y4A5,P62244,Q13428,P39019,Q96L58,Q07020 18 |
| Cerebral visual impairment 0.2848363581070161 0.496675110191206 0.6194181770679941 1.0 0.9076750736512612 60 Q969N2,P12235,P20700,Q96N66,Q01433,P55011,O60762,P52565,Q9H490,P37268,Q01105 11 |
| Thyroid adenoma 0.573191451847415 0.49666846771111 0.6194228620056881 1.0 0.9076750736512612 4 P20585 1 |
| Portal fibrosis 0.572515758040172 0.4945211447411116 0.620938176997182 1.0 0.9090167066343164 4 P28288 1 |
| Open mouth 0.3258678755352026 0.4938673178293522 0.6213998871504334 1.0 0.9091072351586296 27 Q969N2,Q9UGU0,Q00577,Q13045,P67870,Q86XL3,P04062,Q10713 8 |
| Lower extremity joint dislocation 0.2857212364778035 0.4921214116904476 0.6226335165150669 1.0 0.9097804981281644 73 Q9UBM7,O94979,Q6ZXV5,P55011,O75844,Q15125,Q96L58 7 |
| Abnormal umbilicus morphology 0.2901427070016902 0.4921170263032132 0.6226366164958588 1.0 0.9097804981281644 54 Q99496,Q14739,O94979,Q92890,O75844,Q9Y487,Q6NUK1 7 |
| Abnormality of somatosensory evoked potentials 0.5717328829842204 0.4920371475252194 0.6226930830741144 1.0 0.9097804981281644 4 Q9NQZ5,P20700 2 |
| Metaphyseal dysplasia 0.3923277838489794 0.4896675221194651 0.6243691875699597 1.0 0.9111061283313886 10 O95831,Q9UBN7,P36776,P61011 4 |
| Abnormality of skin pigmentation 0.2758637428918805 0.4862528621695906 0.626787895816588 1.0 0.9118212316454398 125 P07602,Q92890,P55011,O75844,Q15125,P51648,Q14739,P52788,O60934,Q7LGA3,O75175,P53634,P33991,P04062,Q99496,Q96AY3,P51798,Q13423,Q06136,P50851,Q9H1A4 21 |
| Nocturia 0.65678254942058 0.4853747214346053 0.6274105603934275 1.0 0.9118212316454398 3 P12235,Q96RR1 2 |
| Multiple mitochondrial dna deletions 0.65678254942058 0.4853747214346053 0.6274105603934275 1.0 0.9118212316454398 3 P12235,Q96RR1 2 |
| Abnormality of lower limb epiphysis morphology 0.3597041725491676 0.485296326464662 0.6274661609453664 1.0 0.9118212316454398 15 O95831,Q96L58,Q6NUQ1,Q7LGA3 4 |
| Lactose intolerance 0.6562433200430382 0.4837995875869161 0.6285281077953369 1.0 0.9127629898927858 3 O95394 1 |
| Cleft soft palate 0.2835004291959376 0.4834834612013011 0.6287525001650951 1.0 0.9127629898927858 60 P46777,P61353,P18077,P61313,P42766,P52788,P62847,Q15392,Q9Y619,O43505,P61254,P62244,Q13428,P39019,Q07020 15 |
| Congenital nystagmus 0.3502549597513545 0.4828125582085209 0.6292288331647469 1.0 0.9127962737809696 18 Q9UGU0,Q7LGA3,P55011,Q9BPU6,Q9Y296,Q12830,O75175,Q9H3S7,P21281,P42858 10 |
| Limb girdle muscular dystrophy 0.4092501831329657 0.4813843075865451 0.6302433875499305 1.0 0.9127962737809696 9 P50402 1 |
| Abnormality of the musculature of the lower limbs 0.3306480966904486 0.4809946649918312 0.630520290442609 1.0 0.9127962737809696 25 Q9BTV4,Q9NR77,P50402,P50570 4 |
| Aplasia hypoplasia of the thyroid gland 0.4881737675045895 0.4809583573383838 0.6305460954356774 1.0 0.9127962737809696 5 O15160 1 |
| Proximal muscle weakness in lower limbs 0.3489006319117179 0.4754551987509548 0.6344625587420372 1.0 0.915332742080817 18 Q9BTV4,P12235,P50402,P50570 4 |
| Abnormal aggressive impulsive or violent behavior 0.2682329348675357 0.4733295929651043 0.6359780524508594 1.0 0.9160033060631556 93 O75503,Q9UBM7,P54802,P51572,Q15125,Q01105 6 |
| Limited elbow movement 0.3120481029477836 0.4718299261683202 0.6370481884131407 1.0 0.9160033060631556 33 Q9BTV4,P50402,Q7LGA3,Q96AY3,Q96L58 5 |
| Epicanthus 0.2900936095324375 0.47038770424604 0.6380780472569536 1.0 0.9160033060631556 158 Q00577,P61353,Q5SRE5,Q92890,P42766,P62847,Q8WWQ0,Q9Y487,Q9Y4A5,Q15125,Q10713,Q07020,Q9UM00,Q16851,P18077,P21359,O75340,Q9UBM7,Q14004,P36776,P40855,P11233,P61313,P56589,P46777,Q15392,Q7LGA3,Q13426,Q4J6C6,Q9H490,Q6NUK1,P37268,P39019,O75845,Q9UGU0,P62244,P41227,O96011,Q04721,P61254 40 |
| Abnormal trabecular bone morphology 0.4436200204865049 0.4697432503352221 0.6385384635963085 1.0 0.9160711384180316 6 Q04721,Q9H1A4 2 |
| Abnormal cerebral ventricle morphology 0.3059859421301099 0.4656474594936053 0.6414678660196227 1.0 0.9182067193427802 226 Q96EK5,P07602,Q5SRE5,P20700,Q86Y56,Q86XI2,O94979,Q92890,Q9BPU6,Q969M3,Q9HC21,Q9Y487,O60826,Q8WVX9,Q15125,Q5KU26,Q10713,P08243,Q6UVJ0,P24928,Q9UM00,Q99622,P16278,Q9UBM7,P21359,P18583,O75340,P40855,P36776,Q9H7D7,Q9ULH0,Q86XL3,Q96L58,Q86SZ2,Q15645,Q15392,Q9UQE7,Q6ZXV5,Q9UBN7,P11166,O43505,Q13045,P53634,Q13426,Q9H490,Q6NUK1,P04062,Q9Y263,Q99496,Q01433,Q9Y4U1,Q9Y320,P41227,Q01082,P67870,P51970,P51798,O60762,P42345,Q04721,Q13620,Q01105 62 |
| Stomatocytosis 0.6337308347529952 0.4632400565102673 0.6431923071610162 1.0 0.9188003905538978 2 P11166 1 |
| Scrotal hypoplasia 0.339094360926242 0.4628558069655032 0.6434677263186066 1.0 0.9188003905538978 20 Q9UBM7,O15160,Q9Y4A5,Q6NUK1,Q13428 5 |
| Segmental peripheral demyelination remyelination 0.6489514785260051 0.4626927511632222 0.643584614892053 1.0 0.9188003905538978 3 Q9NR77 1 |
| Abnormality of prenatal development or birth 0.3060052689126114 0.4606856211635957 0.6450241725778918 1.0 0.9191972218760106 231 P42766,P62847,O43772,O75844,O60826,Q15125,Q9UM00,Q14739,P16278,Q9UBM7,P40855,O43676,Q9ULH0,Q13510,P56589,P10619,P61916,O95342,O15118,Q4J6C6,P04062,Q99496,P51798,Q9Y285,Q9Y619 25 |
| Bifid uvula 0.2957932965432641 0.458801614123348 0.6463766355401979 1.0 0.919322665561864 38 O43505,P52788,Q15392 3 |
| Aortic dissection 0.4810083552252965 0.456313268451989 0.6481647239790895 1.0 0.919990083477103 5 P01889 1 |
| Abnormality of the calf musculature 0.3511945628873318 0.4551115837998171 0.6490289647673484 1.0 0.919990083477103 16 Q9NR77,P50570 2 |
| Recurrent bacterial infections 0.3600396540432447 0.454771207889372 0.6492738460255165 1.0 0.919990083477103 13 O95394,P53634,P13051,P61011 4 |
| Abnormality of the auditory canal 0.3374021060882629 0.4533027050945314 0.650330785212829 1.0 0.920547600366588 20 P55011,Q13428,Q9Y619,P61254 4 |
| Achilles tendon contracture 0.3596259769945395 0.4527732144368508 0.650712053183425 1.0 0.920547600366588 13 P50402 1 |
| Abnormality of mouth shape 0.2822104113524793 0.4525372147880597 0.6508820178532178 1.0 0.920547600366588 66 Q969N2,O75845,Q9UGU0,Q00577,Q9UQE7,Q86XI2,Q13045,O75175,P67870,Q86XL3,Q04721,Q9H490,P42345,Q15125,P04062,Q10713 16 |
| Micropenis 0.2788857523011999 0.4487360854696789 0.6536220500856562 1.0 0.9224881437933596 58 P42892,O43505,Q9UBM7 3 |
| Impaired adp induced platelet aggregation 0.6286201022146433 0.4474778112092631 0.6545301052247265 1.0 0.9224881437933596 2 P27797 1 |
| Abnormality of dermal melanosomes 0.6286201022146432 0.4474778112092619 0.6545301052247274 1.0 0.9224881437933596 2 Q9Y4I1 1 |
| Diaphragmatic paralysis 0.5574134218505188 0.4473786367409048 0.6546016979341414 1.0 0.9224881437933596 4 P10253 1 |
| Porokeratosis 0.5571688618802457 0.4466291722656809 0.6551428288843832 1.0 0.9224881437933596 4 Q9H1A4 1 |
| Soft doughy skin 0.643150514732148 0.4461655402039725 0.6554776728361105 1.0 0.9224881437933596 3 Q96L58 1 |
| Chronic neutropenia 0.4371700867616821 0.4458564910217389 0.65570091255377 1.0 0.9224881437933596 6 Q9Y3C6,P50851 2 |
| Myoclonic spasms 0.4778838001123531 0.4457002218842576 0.6558138042858233 1.0 0.9224881437933596 5 Q99496,Q10713 2 |
| Narrow mouth 0.281619156833872 0.4456927284933082 0.6558192178484301 1.0 0.9224881437933596 71 Q99496,P52788,Q15392,Q14004,P55011,O75175,O75844,Q9Y619,P04062 9 |
| Abnormal cd4 cd8 ratio 0.5568616596420422 0.4456883904045302 0.6558223518871147 1.0 0.9224881437933596 4 O95394,O00203 2 |
| Abnormal muscle fiber morphology 0.2812689792828082 0.4449625939255337 0.6563467865639212 1.0 0.9228227701008505 65 Q9BTV4,P50402,Q99720,Q9H2D1,O43676,P35637,O96008,P50570 8 |
| Abnormal t cell subset distribution 0.4003102237403276 0.4437124304957636 0.657250507169755 1.0 0.9228511476764432 9 Q96BN8 1 |
| Patellar dislocation 0.3460411564008301 0.4431761575278579 0.6576383229821929 1.0 0.9229263748765528 17 Q6ZXV5,Q15125,Q92890 3 |
| Hypertensive crisis 0.4764714201738716 0.4409303657202492 0.6592634095591547 1.0 0.9242719054879178 5 P01889 1 |
| Hypocalcemia 0.357004075686848 0.4401662312396617 0.6598167154637742 1.0 0.9242719054879178 13 Q4J6C6 1 |
| Hepatic fibrosis 0.3175470803529704 0.4395517955753698 0.6602617602348788 1.0 0.9245209853684332 27 P38571,Q13510 2 |
| Abnormality of the optic nerve 0.3047015746330803 0.4387104972772561 0.660871319898328 1.0 0.9245843087790162 235 P07602,P04439,P55011,O60826,P50897,Q15125,Q5KU26,P06280,P16278,Q9UBM7,P40855,O43676,Q9ULH0,P56589,Q96L58,Q6ZXV5,O43505,O15460,Q9H061,O75175,Q9H490,P04062,P15289,Q99496,Q01433,Q9Y4U1,Q9H0B6,P41227,P51798,P51572,P01889 31 |
| Irregular femoral epiphysis 0.6402568029967817 0.4380115052794742 0.6613779432043358 1.0 0.9245843087790162 3 Q9NUQ7 1 |
| Nail dystrophy 0.320367058760323 0.4360947411601052 0.6627679925083014 1.0 0.925839035924807 26 P53634,O75844,Q9H4A3 3 |
| Progressive muscle weakness 0.3560848090050512 0.4357695221946376 0.6630039587916001 1.0 0.9258842139512916 13 P40855,P56589 2 |
| Polysplenia 0.6241908006814233 0.4340103123185084 0.6642809525597382 1.0 0.92681359045386 2 Q86Y56 1 |
| Pseudobulbar signs 0.3795656705704781 0.433047159645102 0.664980509346051 1.0 0.927505023311808 10 P20700 1 |
| Decreased methylcobalamin 0.6368602410105193 0.4285189646744238 0.668273329301913 1.0 0.929119407025428 3 Q9Y4U1 1 |
| Abnormal lip morphology 0.2997819300346112 0.4276009686797694 0.6689416605818335 1.0 0.929119407025428 289 Q00577,P20700,O94979,Q92890,P55011,Q9Y296,Q9Y3B2,O75844,P15586,O60826,Q9Y487,Q9Y4A5,Q8WVX9,Q5KU26,P04066,P06280,Q6UVJ0,Q9UM00,Q14739,Q99622,P16278,Q9UBM7,Q16851,Q14004,P11233,Q9BT22,Q9H7D7,Q9ULH0,Q86XL3,Q96L58,Q969N2,Q96HY6,P46777,P52788,O60934,Q7LGA3,P11166,Q9UBN7,Q13045,O75175,Q13426,Q4J6C6,Q9H490,Q6NUK1,P04062,Q9Y263,P39019,Q99496,O75845,Q01433,Q9Y4U1,P41227,O60762,Q10471,Q9BZI7,Q9Y619,Q01105 57 |
| Partial agenesis of the corpus callosum 0.3541226058978399 0.4264262273844659 0.6697972935614045 1.0 0.929119407025428 13 Q15392 1 |
| Sleep disturbance 0.2806227606981538 0.4244565526405967 0.6712328847626217 1.0 0.929119407025428 144 Q99496,O75503,Q9UBM7,Q96N66,O95342,P55011,P54802,P41227,O75175,P15586,P35610,P50897,P04062,Q01105 14 |
| Abnormal larynx physiology 0.3475312786929231 0.4243732249158447 0.6712936444159525 1.0 0.929119407025428 15 Q13510 1 |
| Prolonged bleeding time 0.4046843779169679 0.4242036782570681 0.6714172785241515 1.0 0.929119407025428 8 O00203,P21359,P27797,Q15149,Q14692,P35579 6 |
| Exercise intolerance 0.3029456128575253 0.42398083262918 0.6715797919802684 1.0 0.929119407025428 34 P12235,Q8IUX1,P13473,P46020,Q9H2D1,Q9Y285 6 |
| Short foot 0.3125350787053024 0.4229397721705948 0.6723392039735538 1.0 0.929119407025428 29 Q99496,Q9UQE7,Q8N0X7,Q9UBN7,P41229,Q9Y4A5,Q10471,Q13620 8 |
| Hypoglycemic seizures 0.412320928005668 0.4195094906093897 0.6748438201370248 1.0 0.929119407025428 7 Q13423 1 |
| Abnormal uvea morphology 0.2673560051988181 0.4191114744947914 0.6751346651415953 1.0 0.929119407025428 90 P04439,O60826,Q13428,Q10713,O75533,Q99622,Q9UBM7,P21359,O75340,P40855,P56589,Q9NR77,Q7LGA3,O43505,Q99496,O15160,P41227,O96011,Q9Y619,Q04721,P01889,P50851 22 |
| Abnormal distal phalanx morphology of finger 0.2902156890091624 0.4183122238566839 0.67571885346674 1.0 0.929119407025428 45 P53634,P51798,O75844,O60826,Q9BZI7,Q96L58 6 |
| Reticulocytosis 0.3550674272539492 0.4179539580814244 0.6759807805356364 1.0 0.929119407025428 12 P51798 1 |
| Hypochromic microcytic anemia 0.547629345510361 0.4177617508370683 0.6761213188624668 1.0 0.929119407025428 4 O75027 1 |
| Poor eye contact 0.29049579764605 0.4175336824709673 0.6762880928075659 1.0 0.929119407025428 38 Q16851,O43676,Q10471,P19404,Q5KU26 5 |
| Hyperammonemia 0.2902646645122747 0.4157534867476855 0.6775903979947688 1.0 0.929119407025428 38 Q05682,O43772,P35610 3 |
| Generalized hypotonia 0.2802042148285825 0.4155190734417172 0.6777619553612255 1.0 0.929119407025428 346 Q8N511,P07602,P10253,P11117,P55011,O43772,Q14376,P06865,O60826,P50897,Q9H4A3,Q15125,Q5KU26,Q9UBM7,Q14004,P40855,O43676,Q05682,P56589,Q9NR77,Q96L58,P61916,Q86SZ2,P52788,O15118,O75175,Q4J6C6,Q6NUK1,O14949,P15289,O75845,Q96N66,Q9Y4U1,P41227,P51798,O60762,Q9Y285,Q9Y619,Q01105 39 |
| Recurrent upper and lower respiratory tract infections 0.6177172061328864 0.4146594710039849 0.6783912056359278 1.0 0.929119407025428 2 P13051 1 |
| Pulmonary edema 0.6173764906303156 0.4136521669268986 0.6791288626025147 1.0 0.929119407025428 2 Q13724 1 |
| Cupped ribs 0.4681686978135601 0.4132490869340608 0.6794241275165163 1.0 0.929119407025428 5 O95831,Q96L58 2 |
| Aplasia hypoplasia of the hallux 0.3286554193694389 0.4130894650833731 0.6795410676127724 1.0 0.929119407025428 21 P55011,O75175,Q9Y296,Q7LGA3 4 |
| Abnormal involuntary eye movements 0.3011814478144132 0.412737258884901 0.6797991236386778 1.0 0.929119407025428 275 P07602,O75503,P20700,Q99720,P55011,O43772,O14773,Q15125,Q5KU26,Q9UBM7,Q16851,P40855,O43676,Q9ULH0,Q13510,P56589,Q9NR77,Q8IV08,Q86SZ2,Q15392,O15460,Q9H061,O75175,Q9H490,Q6NUK1,P04062,Q9Y4U1,Q9H0B6,P41227,P51798,O60762,Q10471,P01889 33 |
| Skin rash 0.3285503784775581 0.412501580742382 0.6799718223155924 1.0 0.929119407025428 21 Q14739,Q06136 2 |
| Vertigo 0.3161104400641188 0.409560747554506 0.6821281960352177 1.0 0.9311614408578348 26 P01889,P06280 2 |
| Abnormal platelet morphology 0.467042292385722 0.4095422074472582 0.68214179887782 1.0 0.9311614408578348 5 O75845,P12814 2 |
| Gait disturbance 0.29689631022653 0.4091993988256069 0.6823933355400351 1.0 0.9312252391058042 297 Q9BTV4,P07602,O75503,Q00577,P20700,Q99720,Q14108,P55011,O75844,O14773,Q5JRX3,P13473,P16278,Q9ULH0,Q05682,Q13510,Q9NR77,Q8IV08,P52788,O15118,O75175,Q4J6C6,P04062,O14949,P15289,Q99496,P50402,Q96N66,Q01433,Q96AY3,Q9H0B6,P41227,Q9Y619,P01889 34 |
| Suicidal ideation 0.6295160190865641 0.4082907524251089 0.6830602277111986 1.0 0.9313789771262332 3 Q01082,P42858 2 |
| Hyperphosphatemia 0.6149914821124296 0.4066328041763732 0.6842777000360756 1.0 0.9315524620535056 2 P10644 1 |
| Abnormal platelet aggregation 0.6288343558282137 0.4064342765759031 0.6844235388535425 1.0 0.9315524620535056 3 P27797,Q8N5K1 2 |
| Fair hair 0.6288343558282137 0.4064342765759031 0.6844235388535425 1.0 0.9315524620535056 3 Q13724,P10644 2 |
| Aplasia cutis congenita over the scalp vertex 0.6143100511073174 0.4046375432271563 0.6857439577839282 1.0 0.9316037574076848 2 Q14692 1 |
| Congenital localized absence of skin 0.6143100511073174 0.4046375432271563 0.6857439577839282 1.0 0.9316037574076848 2 Q14692 1 |
| Progressive proximal muscle weakness 0.6143100511073174 0.4046375432271563 0.6857439577839282 1.0 0.9316037574076848 2 Q7Z392 1 |
| Symptomatic seizures 0.3993670529970926 0.4032675047479984 0.6867514442559881 1.0 0.9326281870822758 8 Q13423 1 |
| Lower limb spasticity 0.2754463920495794 0.4030543435820261 0.6869082468745418 1.0 0.9326281870822758 78 P07602,P11166,Q01433,Q99720,Q9H0B6,Q04446,Q9NZJ4,Q15041,Q9ULH0,Q8WVX9,P56589,P19404,Q9Y619,P04062,P35637 15 |
| Abnormal eyebrow morphology 0.2820084631428062 0.4022868325149648 0.6874729441119531 1.0 0.9329282304882214 151 Q00577,P55011,O75844,P15586,Q15125,Q5KU26,P04066,Q9UM00,Q99622,Q16851,P54802,P11233,Q9H7D7,P52788,Q6NW34,O75175,Q6NUK1,Q99496,P41227,Q9H1A4 20 |
| Atresia of the external auditory canal 0.3460853155166079 0.4021962706566154 0.6875395866210754 1.0 0.9329282304882214 14 Q13428,Q9Y619,P61254 3 |
| Triangular shaped phalanges of the hand 0.2770703819151452 0.4018698846312684 0.687779787160061 1.0 0.9329757435014312 66 Q9UGU0,P46777,P61353,P18077,P61313,P42766,P55011,P62847,Q7LGA3,P61254,Q9Y296,P62081,P41227,O75175,P62244,P39019,Q07020 17 |
| Cerebellar malformation 0.2814703152137149 0.4010770592576793 0.6883633902659507 1.0 0.9334889160570468 53 Q15125,O43505,O60826,Q9UBM7 4 |
| Visual impairment 0.3013697612121401 0.4001212635177892 0.6890672034802572 1.0 0.934164750812382 266 P07602,O75503,P04439,P20700,P55011,P06865,P50897,O14773,Q5KU26,P13473,P16278,P40855,O43676,Q9ULH0,P56589,P07686,P12955,O43505,O15460,Q9H061,O75175,Q9H490,P15289,Q99496,Q96N66,Q01433,Q9Y4U1,P41227,P51798,O60762,P01889,Q01105 32 |
| Ventricular tachycardia 0.3709301783648909 0.3958631090489075 0.6922060173011537 1.0 0.9360700495369696 10 P41227,O43772 2 |
| Muscle fibrillation 0.3416356136577987 0.3957013001956104 0.692325396215709 1.0 0.9360700495369696 15 O95831,P50570,Q13510 3 |
| Pseudobulbar paralysis 0.3966290580540517 0.3926128486375829 0.6946054482469126 1.0 0.9367117478132287 8 P20700 1 |
| Weakness due to upper motor neuron dysfunction 0.2716469332033189 0.3910794883542596 0.6957384816292729 1.0 0.9367117478132287 131 Q99496,P07602,P20700,Q01433,Q16851,Q9H0B6,Q9ULH0,Q13423,Q13510,P51572,P56589,Q9Y619,P04062,P01889,P15289 15 |
| Depletion of mitochondrial dna in muscle tissue 0.4612983667808663 0.3908270585335167 0.6959250727469728 1.0 0.9367117478132287 5 P54098,P12235,Q96RR1 3 |
| Bulbous nose 0.2874109060099066 0.3903170556072792 0.696302112955512 1.0 0.9367117478132287 40 O75845,Q9UGU0,P52788,Q9UQE7,Q92890,Q01082,Q9Y4A5,P42892,Q13620 9 |
| Abnormality of the lower urinary tract 0.2979092074251335 0.3852231830905287 0.7000720686381852 1.0 0.9401144997335582 208 P07602,P61353,P20700,Q99720,P42766,Q92890,P62847,Q9NZJ4,O75844,Q9Y4A5,O60826,Q8WVX9,O75165,Q07020,Q6UVJ0,P12235,P18077,Q9UBM7,P61313,P40855,P31150,Q86XL3,P56589,Q9NR77,P07686,P50570,P46777,P52788,O60934,P11166,Q04446,Q96QK1,P04062,P37268,P39019,P15289,Q99496,O96011,Q9Y6X9,P62244,P41227,P35637,Q10471,Q9BZI7,Q9Y619,Q04721,P01889,P61254 48 |
| Localized skin lesion 0.2971831047066602 0.3827512231891243 0.7019042305873611 1.0 0.9420184582292592 205 P07602,P55011,O75844,O60826,Q9H4A3,Q92542,Q15125,P06280,Q9UM00,Q14739,Q13510,Q96L58,P12955,Q15392,O60934,Q6ZXV5,P98194,O15460,O75175,P53634,Q6NUK1,P04062,P48735,Q99496,Q96AY3,P41227,Q06136,Q9Y619,P01889 29 |
| Neonatal hyperbilirubinemia 0.6183601569985585 0.378372250783553 0.7051540792584887 1.0 0.9441506473463924 3 P43034 1 |
| Esodeviation 0.293801356061513 0.3768617111840553 0.7062763770815534 1.0 0.945096729426081 35 Q9ULH0,P04062,Q5KU26,P20700 4 |
| Spastic paraparesis 0.3268067014751744 0.3758303944851452 0.7070429900325379 1.0 0.9454113635229828 19 Q9Y619,P04062,Q8WVX9 3 |
| Decreased cd4 cd8 ratio 0.6040885860306561 0.3752689482519197 0.7074604571882426 1.0 0.9454113635229828 2 O00203 1 |
| Aortic regurgitation 0.3104647820058012 0.3750281654037792 0.7076395198674432 1.0 0.9454113635229828 26 Q6ZXV5,O75844,P01889 3 |
| Primary hypercortisolism 0.6037478705281021 0.3743084266459756 0.7081748634614613 1.0 0.9454113635229828 2 P10644 1 |
| Adrenocortical abnormality 0.6037478705281021 0.3743084266459756 0.7081748634614613 1.0 0.9454113635229828 2 P10644 1 |
| Complete atrioventricular canal defect 0.6037478705281007 0.3743084266459712 0.7081748634614646 1.0 0.9454113635229828 2 Q9UHX1 1 |
| Aplasia hypoplasia of the cerebellar vermis 0.2741459246244063 0.3736513886830114 0.708663695986055 1.0 0.945786271103197 66 Q9UM00,Q9UBM7,Q9NZJ4,O43505,Q9Y487,Q9Y4A5,O60826,Q9H490,Q6NUK1,Q15125 10 |
| Wide nasal bridge 0.2813443909935003 0.3723472516732253 0.7096343219099364 1.0 0.9465260374668468 155 Q00577,P61353,Q5SRE5,P20700,P42766,P55011,P62847,Q92890,P61254,Q9Y296,Q9Y487,Q9Y4A5,O60826,Q13428,Q5KU26,O43837,Q07020,P18077,Q9UBM7,Q14004,O75340,P40855,P11233,P61313,P56589,Q969N2,P46777,P11166,Q7LGA3,Q13045,O75175,Q13426,P39019,O75845,Q9UGU0,Q9Y4L1,P62244,O15160,P41227,O96011,Q04721,Q01105 42 |
| Abnormal size of the palpebral fissures 0.2660369652743569 0.3695729655094478 0.7117006974908908 1.0 0.948447559053658 87 Q6NUK1,P20700,Q14004,P55011,O75175,O75844,Q9BZI7,Q9Y619,Q5KU26 9 |
| Hyperuricemia 0.3819002706663011 0.3689549159367977 0.7121613294512597 1.0 0.9485054379071112 9 P35610 1 |
| Decreased testicular size 0.3205691550869474 0.368499302722291 0.7125009649687035 1.0 0.9485641367784762 21 Q13620,P41229,O43505,Q8WWQ0 4 |
| Abnormality of the small intestine 0.2796417028658751 0.3659548417741628 0.7143987726576289 1.0 0.9500939512355188 51 O95342,P38571,Q14739 3 |
| Vestibular dysfunction 0.3022419140042385 0.3654537135067158 0.7147727521340814 1.0 0.9503133637291428 30 P01889,P06280 2 |
| Contractures of the joints of the lower limbs 0.2772969886469592 0.3647058702204198 0.7153309762067339 1.0 0.9504028668859638 53 Q9BTV4,P50402,Q7LGA3,Q99720,Q96AY3,Q9H7D7,O60762,P35637,P37268 9 |
| Hallux valgus 0.3378723090749581 0.3637578584913319 0.7160388338920189 1.0 0.9504028668859638 14 P04062 1 |
| Spasticity 0.2933269900038417 0.3632942354223566 0.7163850990786751 1.0 0.9504028668859638 300 P07602,O75503,P20700,Q99720,P11117,P55011,P50897,Q5KU26,P04066,P16278,Q16851,P40855,Q9ULH0,P35610,Q13510,P56589,P07686,P61916,Q15392,Q6ZXV5,O43505,O15118,Q9H490,P04062,P15289,Q96N66,Q01433,Q9H0B6,Q9Y3C6,Q15165,P41227,Q9Y619,Q01105 33 |
| Oral cleft 0.2789057998527068 0.3628976508799305 0.7166813416302593 1.0 0.9504028668859638 151 P61353,Q5SRE5,Q92890,P42766,P62847,Q8WWQ0,O75844,Q9Y4A5,O60826,Q13428,Q15125,Q10713,Q07020,Q9UM00,Q14739,P18077,Q9UBM7,P61313,Q9H7D7,P62081,Q96L58,P46777,Q15645,P52788,Q15392,O60934,Q7LGA3,O43505,Q13045,P39019,O15160,P41227,P62244,Q9Y619,Q04721,P61254 36 |
| Apraxia 0.2713449154881564 0.3626164879890294 0.7168913918162527 1.0 0.9504028668859638 61 Q00577,P11166,Q7LGA3,Q6DKK2,P55011,Q9Y296,O75175,Q13426,P35637,O14773,O96008,Q9Y619,P04062 13 |
| Hypoplasia of the corpus callosum 0.2871653980189455 0.3608864243769454 0.7181843524566025 1.0 0.9504028668859638 173 Q9UM00,P07602,Q9UBM7,Q01433,P20700,P55011,Q16851,Q14004,Q6ZXV5,O75175,Q9ULH0,Q9H490,Q6NUK1,Q15125,P04062,Q5KU26,Q01105,Q86SZ2 18 |
| Abnormality of bone marrow cell morphology 0.2798378797742539 0.359753265702065 0.7190316548984319 1.0 0.9506354310141608 50 Q14739,O60934,Q14108,Q13426,P51798,P05165,P04062,P50851,Q9H1A4 9 |
| Abnormal b cell morphology 0.3795086225836589 0.3595512612256636 0.71918273703325 1.0 0.9506354310141608 9 O60934 1 |
| Albinism 0.5982964224872147 0.3591059529078161 0.7195158284601606 1.0 0.9506354310141608 2 O00203 1 |
| Poor suck 0.3130058072285741 0.3586211642199503 0.7198785118367583 1.0 0.9507079852807844 24 Q9UBM7 1 |
| Abnormal morphology of the limbic system 0.3618513913799345 0.3578658932711916 0.720443675846127 1.0 0.951056940497338 10 P67870,Q9BPU6,Q01105 3 |
| Joint swelling 0.3954112380747578 0.3566106578869719 0.7213832975846401 1.0 0.951758124767673 7 Q13510 1 |
| Gangrene 0.3415021018073074 0.3564401809946386 0.7215109426158277 1.0 0.951758124767673 12 P01889 1 |
| Homocystinuria 0.6090490252105969 0.3541830745726741 0.7232016870645457 1.0 0.953435219217886 3 Q9Y4U1 1 |
| Abnormal circulating metabolite concentration 0.2848836875853941 0.3528606535587182 0.7241929097000912 1.0 0.9542157769626508 326 Q9BTV4,Q8N511,P07602,P10253,P46020,Q92890,O43772,Q14376,P38571,O75844,Q9Y487,Q9H4A3,Q8N1F7,Q5JRX3,Q15125,P06280,P49257,P11498,P12235,Q14739,P13473,P53985,Q9UBM7,P18206,P40855,Q9BT22,Q4G176,O43676,Q05682,P35610,P56589,Q6NUQ1,P05165,P61916,P50570,Q9Y697,Q969N2,Q15392,P11166,O95342,Q6ZXV5,Q07021,O43505,Q13426,Q4J6C6,P19404,P48735,P37268,O75845,P50402,Q8IUX1,O96011,Q96BN8,Q9Y4U1,Q9Y5K6,P51798,O60762,Q13423,P52565,Q9Y285,Q10471,Q9Y619,Q96RQ3 63 |
| Subsarcolemmal accumulations of abnormally shaped mitochondria 0.4492605142675484 0.3526698249220746 0.7243359838209991 1.0 0.9542157769626508 5 P12235,Q9H1K1,Q96RR1 3 |
| Optic disc pallor 0.2823093109593351 0.3525533368161044 0.7244233257257688 1.0 0.9542157769626508 44 P04439,Q9H0B6,O43676,Q9H061,P51798 5 |
| Speech apraxia 0.3035295033408399 0.3516984961869231 0.7250643884738748 1.0 0.9542501968263474 27 Q9UGU0,Q00577,Q8N0X7,Q7LGA3,P55011,Q9Y296,O75175,Q9Y619 8 |
| Aplastic anemia 0.3937442805483583 0.3505931814248147 0.7258935726761782 1.0 0.9544933704333668 7 O60934 1 |
| Severe combined immunodeficiency 0.3927238069694487 0.3469265593188295 0.7286464929413992 1.0 0.9559776706187684 7 O95394,Q13426 2 |
| Abdominal wall muscle weakness 0.4473813580780186 0.346849570928914 0.7287043339266883 1.0 0.9559776706187684 5 P21359 1 |
| Postnatal growth retardation 0.2677788928589901 0.3448603677734583 0.7301993467831462 1.0 0.9562326337851574 58 Q9UM00,P41227,Q9Y487,O60826,Q15125,P33991,Q96L58 7 |
| Narrow nose 0.4084478516858371 0.3445489142644019 0.7304335169541334 1.0 0.9562326337851574 6 Q9Y4A5 1 |
| Neoplasm of the skeletal system 0.2813154419234308 0.3440527806149382 0.7308065930639271 1.0 0.9562326337851574 40 Q92804,P46777,P61353,P18077,P61313,P42766,P61254,P62847,O15160,P62244,Q13428,P48735,P39019,Q07020,Q9H1A4 15 |
| Abnormal phalangeal joint morphology of the hand 0.2836474188055043 0.3433485722062109 0.7313362438520896 1.0 0.9562326337851574 37 Q9BZI7,Q9Y619,O75844 3 |
| Aplasia hypoplasia involving the skeleton 0.2940036971721986 0.3428753545647039 0.7316922333186548 1.0 0.9562326337851574 291 Q00577,P61353,O94979,P42766,P55011,P62847,Q92890,Q8WWQ0,Q9Y296,O75844,Q9Y4A5,O60826,Q15125,Q13428,Q07020,P04066,Q9UM00,Q14739,Q99622,P16278,P18077,P21359,Q9UBM7,P40855,P31150,Q9BT22,P36776,P61313,Q9H7D7,P62081,Q9ULH0,Q86XL3,Q13510,P56589,Q6NUQ1,Q96L58,Q969N2,Q96HY6,P46777,P12955,Q15392,O60934,Q6NW34,Q9UBN7,Q7LGA3,P13073,Q13045,Q32P28,O75175,Q13426,Q6NUK1,P04062,P48735,P39019,P37268,Q9Y263,Q99496,O75845,Q9UGU0,O96011,Q9Y4L1,P62244,Q96AY3,O15160,P41227,P51798,O60762,Q10471,Q9BZI7,Q9Y619,Q04721,P61254,Q9H1A4 73 |
| Gastroesophageal reflux 0.2588405370561539 0.3425651292308109 0.7319256392141364 1.0 0.9562326337851574 115 Q969N2,P12235,Q14739,P07602,Q9UBM7,O94979,Q6ZXV5,P55011,Q6NW34,Q92890,Q9H7D7,O60826,Q9H4A3,O95394,Q6NUK1,Q9Y619,Q01105 17 |
| Low set posteriorly rotated ears 0.2710069985089776 0.3423956289547519 0.7320531775249908 1.0 0.9562326337851574 73 Q9UM00,Q9UBM7,Q15392,P40855,P41227,Q4J6C6,P56589,Q6NUK1,P04062,Q96L58 10 |
| Abnormality of the hairline 0.2604303448899938 0.3407631320020645 0.733281907417543 1.0 0.957287635092612 90 P61353,P42766,P62847,O60826,Q13428,Q07020,Q9UM00,P18077,P21359,Q16851,P40855,P61313,P62081,P46777,P12955,Q9UQE7,O60934,Q6NW34,Q7LGA3,O75175,Q13426,Q6NUK1,P39019,O15160,P62244,Q04721,P61254 27 |
| Pediatric onset 0.2960982541411179 0.3365930154829885 0.7364237221231893 1.0 0.9589114159490668 220 P07602,P20700,Q969M3,P06865,P38571,Q9H4A3,O14773,Q5JRX3,P06280,Q99622,P16278,P54802,Q9H7D7,Q9ULH0,Q05682,Q13510,Q9NR77,P07686,P50570,P12955,O95342,Q6ZXV5,O15118,P19404,P39019,P35241,P50402,Q96BN8,Q9Y4U1,P51798,O60762,Q9BZI7 32 |
| Weakness of muscles of respiration 0.2924741299752412 0.3362369277590333 0.7366922079811986 1.0 0.9589863926969682 33 Q9BTV4,P12235,P10253,P50402,Q13510,P50570 6 |
| Abnormal facial expression 0.2939945347080483 0.3335493605272226 0.7387196361557975 1.0 0.9605256464399232 32 P12235,Q00577,Q96QK1,Q9NR77,P04062,O75165,P50570 7 |
| Hernia 0.262098083393593 0.3331929898861382 0.7389886093670766 1.0 0.9606006880480552 122 Q99496,Q9UM00,Q14739,P16278,Q9UBM7,Q6ZXV5,Q32P28,P41227,O60826,Q6NUK1,P04066 11 |
| Metaphyseal chondrodysplasia 0.441757378859075 0.3296601757361322 0.7416567481853158 1.0 0.9607280956134924 5 O95831,Q9UBN7 2 |
| Sarcoma 0.269221771609356 0.3294525526190839 0.7418136514467233 1.0 0.9607280956134924 56 Q92804,P61353,P42766,P62847,Q07020,P18077,P21359,P61313,P62081,P46777,O60934,Q15392,Q01844,P48735,P39019,Q99496,P62244,P61254,Q9H1A4 19 |
| Abnormal ureter morphology 0.3117238235494193 0.3293438655087385 0.7418957918701838 1.0 0.9607280956134924 22 Q969N2,Q7LGA3,P36776,P41227,O75844 5 |
| Anencephaly 0.334560984158313 0.3261647534482974 0.744299707112982 1.0 0.9607280956134924 12 O43505 1 |
| Hypoplasia of the vagina 0.5856899488926657 0.3251792168524235 0.745045437221896 1.0 0.9607280956134924 2 P51809 1 |
| Urogenital sinus anomaly 0.5856899488926657 0.3251792168524235 0.745045437221896 1.0 0.9607280956134924 2 P51809 1 |
| Female external genitalia in individual with 46 xy karyotype 0.5856899488926657 0.3251792168524235 0.745045437221896 1.0 0.9607280956134924 2 P51809 1 |
| Gonadoblastoma 0.5856899488926657 0.3251792168524235 0.745045437221896 1.0 0.9607280956134924 2 P51809 1 |
| Ovarian gonadoblastoma 0.5856899488926657 0.3251792168524235 0.745045437221896 1.0 0.9607280956134924 2 P51809 1 |
| Frontal cortical atrophy 0.3196359107979255 0.3243434476678414 0.745678029522536 1.0 0.9607280956134924 18 P55011,O75175,Q9Y296,Q7LGA3 4 |
| Type i transferrin isoform profile 0.3783463015164495 0.3238476793769045 0.7460533567804788 1.0 0.9607280956134924 8 Q9BT22,O60762 2 |
| Heterotropia 0.2745471140263133 0.3236185630751093 0.7462268323571899 1.0 0.9607280956134924 51 Q99496,P20700,Q9ULH0,O60762,P04062,Q5KU26 6 |
| Abnormal hand morphology 0.2523904327705866 0.3235414694730024 0.7462852067275052 1.0 0.9607280956134924 107 P61353,P42766,P62847,O75844,O60826,Q15125,Q07020,P18077,P21359,Q9UBM7,P61313,P31150,P62081,Q9ULH0,P41229,Q13510,P46777,Q6NW34,P13073,Q6NUK1,P39019,P51798,P62244,Q9BZI7,Q04721,P61254 26 |
| Osteomyelitis 0.3287995827253668 0.3227127224232083 0.746912816155676 1.0 0.9607280956134924 14 O95394,Q01082,Q8N8R5,P51798 4 |
| Aortic root aneurysm 0.298643866256531 0.3223097019961606 0.7472180838715037 1.0 0.9607280956134924 27 Q7LGA3,P55011,Q9Y296,O75175,O95394,Q96L58 6 |
| Hypopigmented macule 0.5132171747783782 0.3201557760679668 0.7488502457270214 1.0 0.9607280956134924 4 Q15233,P21359 2 |
| Elevated circulating parathyroid hormone level 0.5952869748479106 0.3198053451939975 0.7491158953753272 1.0 0.9607280956134924 3 P21359 1 |
| Stereotypy 0.2673905923972686 0.3185749974137655 0.7500488154800702 1.0 0.9607777013552836 63 P20700,P11166,P15311,P55011,Q96N66,Q9BPU6,Q9NZ01,Q9H7D7,Q13045,P41227,Q01082,P67870,Q01105,P61916,Q86SZ2 15 |
| Focal emotional seizure 0.3767939119570676 0.3182126394381258 0.7503236458131983 1.0 0.9607777013552836 8 P67870,Q01105 2 |
| Renal tubular acidosis 0.334660034982315 0.3174038540654298 0.7509371831766085 1.0 0.961022057952164 11 P11498,Q05682 2 |
| Broad philtrum 0.3345007541310089 0.3167366714328711 0.7514434205493015 1.0 0.9611288982384456 11 Q01082,Q9UM00,P11166 3 |
| Melanoma 0.3101269814598487 0.3130811208567111 0.7542190319781028 1.0 0.962497106630884 21 Q99496,P53634,O60934 3 |
| Hip dislocation 0.265173958755471 0.3109627536085463 0.7558289371211799 1.0 0.9629459728467372 60 Q9UBM7,O94979,P55011,O75844,Q96L58 5 |
| Deep plantar creases 0.4353916526328388 0.3106313275883391 0.7560809085896949 1.0 0.9629971684474348 5 P42345,O00170,Q9Y487 3 |
| Supraventricular arrhythmia 0.3212287320366885 0.3095135371534416 0.7569309162260254 1.0 0.963000804722926 16 Q9BTV4,P41227,P50402 3 |
| Vitiligo 0.3968269729308786 0.3062346091240076 0.7594260231112919 1.0 0.9641184791929948 6 O60934 1 |
| Dysplastic corpus callosum 0.3295097211249022 0.3046889528747182 0.7606030641374995 1.0 0.9641184791929948 12 Q86W42,P18583,P20700,Q8N8R5,P49902 5 |
| Decreased head circumference 0.2198741176200007 0.3044109369962183 0.760814836415912 1.0 0.9641184791929948 431 P07602,Q5SRE5,Q99720,Q8N8R5,O43772,P50897,Q5KU26,Q10713,Q07020,Q9UBM7,P18077,P21359,O75340,P36776,O43676,P62081,Q15392,O43505,P04062,Q99496,Q01433,Q9Y285,P51572,Q9Y619,Q01105,P20700,P42766,P55011,P62847,Q9UM00,Q16851,Q14004,P40855,P56589,Q86SZ2,O60934,Q6ZXV5,O75175,Q6NUK1,O75845,Q96N66,Q9Y4U1,P41227,O60762,Q06136,Q10471,Q00577,P61353,Q969M3,P51648,Q9BT22,Q9H7D7,Q7LGA3,Q13426,P19404,P33991,P39019,Q8IUX1,Q9Y320,P35637,O96011,Q92890,Q9Y296,Q9Y3B2,Q9Y487,Q9Y4A5,Q8WVX9,Q6UVJ0,P61313,Q4G176,Q86XL3,Q9UEY8,P46777,P11166,P15311,Q13045,Q9Y263,Q9UGU0,Q9Y6X9,P62244,P35658,P61254 82 |
| Abnormal uvula morphology 0.2758263466336287 0.3030118786685866 0.7618808090468652 1.0 0.9641184791929948 44 O43505,P52788,Q15392 3 |
| Prominent metopic ridge 0.326516428836375 0.3017357179946633 0.7628535375423808 1.0 0.9641184791929948 13 O75845,Q00577 2 |
| Aplasia hypoplasia of the nipples 0.3209225927638189 0.2999960638039205 0.7641801580583154 1.0 0.9646751542767688 15 O60826 1 |
| Abnormal finger phalanx morphology 0.2770811179597948 0.2992486458804865 0.7647503347773761 1.0 0.9646751542767688 159 P61353,Q92890,P42766,P55011,P62847,Q9Y296,O75844,O60826,Q9H4A3,Q15125,Q10713,Q07020,Q9UM00,Q14739,P18077,Q9UBM7,P61313,P31150,P36776,P62081,Q96L58,P46777,Q6NW34,Q7LGA3,Q13045,O75175,P53634,Q6NUK1,Q9Y263,P39019,O75845,Q9UGU0,Q9Y6X9,P41227,P51798,P62244,Q9BZI7,Q9Y619,Q04721,P61254,Q9H1A4 41 |
| Epistaxis 0.3207506905072643 0.2992377817696158 0.7647586235356585 1.0 0.9646751542767688 15 P04062,P01889,O15460 3 |
| Poor coordination 0.3469578864532927 0.2982431652480038 0.7655175788733282 1.0 0.9650148131791026 10 Q9UGU0,Q9Y619 2 |
| Persistent head lag 0.378357574117624 0.2967545537028898 0.7666539041496465 1.0 0.9656541050023196 7 Q15233,Q16851,Q01082 3 |
| Abnormal connection of the cardiac segments 0.2728217249552973 0.2967441792973796 0.7666618251722837 1.0 0.9656541050023196 49 P40855,O75844,P01889,O60826 4 |
| Sandal gap 0.2969642536326857 0.2958605330026609 0.7673365925042164 1.0 0.9662363572740714 26 Q14739,O60762,Q96L58 3 |
| Meningocele 0.3622366807689006 0.2940091174822741 0.7687509363835714 1.0 0.9663929299705664 9 O75845,Q92890 2 |
| Exaggerated cupid s bow 0.3928183586828152 0.293416863394793 0.7692035372820081 1.0 0.9664461132968476 6 P11233 1 |
| Abnormal cerebellar vermis morphology 0.264824591588726 0.2892003391580605 0.7724280723243 1.0 0.9674774467369998 76 Q9UM00,Q9UBM7,Q9NZJ4,O43505,Q13426,Q9Y487,Q9Y4A5,O60826,Q9H490,Q6NUK1,Q15125 11 |
| Abnormal myocardium morphology 0.278140073544419 0.2884380984789192 0.773011407952497 1.0 0.9674774467369998 164 Q9BTV4,P10253,Q14108,O43772,P15586,P06280,P12235,P18206,P13473,P16278,P40855,P54802,Q9BT22,O43676,P56589,P05165,Q9Y697,Q969N2,Q04446,Q9H061,Q13426,P19404,P04062,P48735,P50402,Q8IUX1,Q9Y4U1,Q13423,O96011,P01889 30 |
| Abnormal atrioventricular valve morphology 0.2808889312439296 0.2883475605034283 0.7730807043427659 1.0 0.9674774467369998 35 P04062,O75844,O60826 3 |
| Serositis 0.3038445594776435 0.2878948586816597 0.7734272225635488 1.0 0.9674774467369998 22 P01889,Q9Y5K6,P52565,O15460 4 |
| Aplasia hypoplasia of the thymus 0.327245363412261 0.2868504816209785 0.7742268076509335 1.0 0.9674774467369998 11 Q6PGP7,Q13428,O15160,Q92890 4 |
| Abnormality of the thymus 0.327245363412261 0.2868504816209785 0.7742268076509335 1.0 0.9674774467369998 11 Q6PGP7,Q13428,O15160,Q92890 4 |
| Abnormal reflex 0.2767995950874726 0.2862054495759888 0.7747207700957324 1.0 0.9674774467369998 337 Q9BTV4,P07602,O75503,P10253,P20700,Q99720,O94979,P55011,Q9NZJ4,Q9Y3B2,Q9H4A3,Q8WVX9,O14773,Q5JRX3,O95394,Q5KU26,O43837,Q6UVJ0,P11498,P12235,Q14739,Q16851,P40855,P54802,Q9BT22,Q9ULH0,Q86XL3,P35610,Q13510,P56589,Q9NR77,P07686,Q86SZ2,P50570,Q969N2,O75027,P11166,P13073,Q04446,O43505,Q13045,Q6DKK2,P19404,P04062,O14949,P15289,Q99496,P50402,Q96N66,Q01433,Q9Y320,Q96AY3,Q9H0B6,Q9Y3C6,Q15041,O60762,P35637,O96011,Q9BZI7,Q9Y619,P01889,Q96RQ3 62 |
| Cerebral hypomyelination 0.3156901405043115 0.2845568773224662 0.7759836527788009 1.0 0.9674774467369998 16 P51572,Q9H7D7 2 |
| Functional abnormality of the middle ear 0.2579382597303793 0.2833355401359952 0.776919635913162 1.0 0.9674774467369998 87 Q6P2Q9,Q92890,Q86Y56,P55011,Q9Y296,O75844,Q9NSV4,O95394,Q13428,O43837,P21359,P36776,Q96L58,Q9UQE7,Q7LGA3,Q13045,O15460,O75175,Q6NUK1,O95831,O75845,Q9UGU0,O15160,Q10471,Q04721,P01889 26 |
| Abnormality of the voice 0.2663431300977785 0.2831708347922872 0.777045884205745 1.0 0.9674774467369998 138 Q9BTV4,P20700,O94979,Q92890,P55011,Q8WWQ0,Q9Y296,O75844,Q9Y487,O75165,P21359,Q13510,Q9NR77,Q96HY6,P52788,Q7LGA3,Q13045,O75175,Q13426,Q96QK1,Q4J6C6,Q6DKK2,P04062,Q9UGU0,P50402,Q9Y6X9,Q9BZI7,Q04721 28 |
| Abnormality of globe location 0.2932719628931022 0.2798431327397855 0.7795978580671212 1.0 0.969062728439366 264 P61353,P20700,Q92890,P42766,P55011,P62847,P61254,Q8WWQ0,Q9Y296,O75844,Q9Y487,O60826,Q9Y4A5,Q8WVX9,Q15125,Q13428,Q5KU26,Q07020,P04066,Q9UM00,Q14739,Q99622,P16278,P18077,P21359,Q9UBM7,Q14004,P61313,Q9BT22,P62081,Q9ULH0,P56589,Q96L58,P46777,P52788,P12955,Q7LGA3,Q13045,Q32P28,O75175,Q13426,Q9H490,Q6NUK1,P04062,P39019,Q99496,Q9UGU0,P62244,O15160,P41227,O60762,Q9Y285,Q10471,Q04721,Q01105 55 |
| Aplasia hypoplasia of toe 0.274408795926592 0.2785085416949448 0.7806220090053331 1.0 0.970070586211328 37 Q9UGU0,Q99622,Q9UBM7,Q7LGA3,P13073,P55011,Q9Y296,O75175,Q13510 9 |
| Distal amyotrophy 0.260771677308972 0.277292752974794 0.7815553237614921 1.0 0.970449555698491 59 Q9NR77,Q13510,Q99720 3 |
| Hypopituitarism 0.2838335494511367 0.269287360877286 0.7877085576290908 1.0 0.9746151868134628 32 Q99496,Q4J6C6,Q9Y285 3 |
| Decreased circulating iga level 0.3698242691707246 0.2683124123712574 0.7884588527144984 1.0 0.9752128347863624 7 Q969N2,P13051,P42345,P50851 4 |
| Secondary microcephaly 0.2629554329490806 0.2668163251652087 0.7896105841264238 1.0 0.9752706673468468 68 P09543,Q9UQE7,P11166,Q01433,Q8N8R5,Q9BT22,Q9HC21,Q9Y487,O60762,P50897,Q8WVX9,Q9Y263,Q5KU26,P08243,Q86SZ2 15 |
| Glomerular sclerosis 0.284732213967703 0.2654178404543502 0.7906875941680436 1.0 0.9753251712622688 31 Q14108,Q9Y5K6,P52565 3 |
| Underdeveloped nasal alae 0.2988073676374836 0.2622732115525251 0.7931108134069542 1.0 0.977045480509732 22 P41227,Q5KU26 2 |
| Impaired vibration sensation in the lower limbs 0.3145798697904585 0.261712925472163 0.7935427746902701 1.0 0.9773128376263972 14 Q9NR77,Q9H0B6,Q9NZJ4 3 |
| Dolichocephaly 0.2836858580658475 0.2591485786778044 0.7955206043038923 1.0 0.9785645204281692 31 Q99622,P40855,O75175,Q4J6C6,P56589 5 |
| Abnormal hair whorl 0.2981690314334121 0.2590775549498656 0.7955754022587966 1.0 0.9785645204281692 22 P55011,O75175,Q9Y296,Q7LGA3 4 |
| Stooped posture 0.5584327086882355 0.2580477788352484 0.7963700333517341 1.0 0.9788363761359966 2 P54098 1 |
| Abnormal circulating nucleobase concentration 0.3159570705913868 0.2578767881604025 0.796501999494873 1.0 0.9788363761359966 13 P35610 1 |
| Enchondroma 0.3517979687837547 0.2565948143319952 0.7974915785712122 1.0 0.9791997661142524 9 P48735,O15160 2 |
| Abnormal morphology of the great vessels 0.2787019891182807 0.2561178342854243 0.7978598513885324 1.0 0.9791997661142524 173 P61353,Q92890,P42766,P55011,P62847,Q9Y296,O75844,Q9Y4A5,O60826,O95394,P42892,Q13428,Q07020,Q9UM00,Q99622,P18077,P21359,Q9UBM7,P40855,P61313,Q9H7D7,P62081,Q96L58,Q969N2,P46777,Q15645,Q15392,Q7LGA3,Q6ZXV5,O15460,O75175,Q6NUK1,P04062,P39019,Q99496,Q9UGU0,O15160,P41227,P51798,O60762,P62244,Q04721,P01889,P61254 44 |
| Weakness of facial musculature 0.2629881586263556 0.2552994869796645 0.7984917961498685 1.0 0.9791997661142524 54 Q99496,P12235,P40855,O75340,Q9H1B7,P51798,Q13510,P56589,O96011,Q9BZI7,P50570 11 |
| Hip dysplasia 0.2667210660283485 0.2550265564785408 0.7987025881253067 1.0 0.9791997661142524 50 Q7LGA3,P55011,Q9H7D7,O75175,Q15125,Q96L58 6 |
| Turricephaly 0.358399953708436 0.2541367614383823 0.7993899039142027 1.0 0.9791997661142524 8 Q6NUK1 1 |
| Axonal loss 0.3510928961748787 0.2541319709340626 0.7993936047260033 1.0 0.9791997661142524 9 P35251,Q27J81,Q9NZB8,Q9NX46,P17480,O96007,Q8N9N2,O95817 8 |
| Hyperventilation 0.379615874481094 0.2527428533265071 0.800466930515064 1.0 0.9791997661142524 6 P11166 1 |
| Sensory axonal neuropathy 0.3037916691936477 0.2501052694869171 0.802505940996999 1.0 0.9791997661142524 18 Q8IV08 1 |
| Dystonia 0.2708707035340638 0.2499937263084095 0.8025922003109827 1.0 0.9791997661142524 154 P07602,Q00577,Q99720,P55011,O75165,P16278,Q4G176,P05165,Q96L58,P61916,P11166,P15311,O15118,Q96QK1,Q6DKK2,P19404,Q9H269,P04062,O14949,P15289,Q96N66,Q9NQZ5,Q9Y3C6,P41227,P35637,P51572,Q01105 27 |
| Conspicuously happy disposition 0.5546848381601263 0.2495152616372982 0.8029622370740599 1.0 0.9791997661142524 2 Q96ST3 1 |
| Vascular dilatation 0.261107482641256 0.2492669239314268 0.8031543148212714 1.0 0.9791997661142524 69 P10253,Q99622,Q7LGA3,Q6ZXV5,P55011,Q9Y296,O15460,O75175,O75844,Q6NUK1,P01889,Q96L58 12 |
| Impaired antigen specific response 0.3783531771507291 0.2489814496744971 0.803375130665609 1.0 0.9791997661142524 6 P50851 1 |
| Atopic dermatitis 0.4845727163681521 0.2478160124187715 0.8042767651877412 1.0 0.9793911224715208 4 O95394 1 |
| Abnormal nephron morphology 0.25614062039848 0.2433356709959908 0.8077453732141529 1.0 0.9811022214554108 58 Q14108,Q9Y4U1,Q9Y5K6,P52565,Q8N1F7,O95394,P01889,P06280 8 |
| Abnormality of circulating enzyme level 0.2531291118152669 0.2432140125251892 0.8078396123002107 1.0 0.9811022214554108 88 Q9BTV4,P50402,P10253,P13473,P53985,P46020,P12235,Q6ZXV5,P18206,O43772,O43505,Q07021,O60762,Q5JRX3,Q9Y697,P50570 16 |
| Impaired tactile sensation 0.3476359493698852 0.2421786363655376 0.8086417481091164 1.0 0.9813867479373074 9 Q9NR77,Q9NZJ4 2 |
| Recurrent infection of the gastrointestinal tract 0.5608430018849164 0.2415277502783689 0.8091461113844209 1.0 0.9813867479373074 3 O60934 1 |
| Increased c peptide level 0.5505962521294617 0.2404056054154646 0.8100158331206646 1.0 0.9813867479373074 2 Q16836 1 |
| Diffuse cerebellar atrophy 0.3752985329239151 0.2399781815090379 0.8103471710679204 1.0 0.9814974082146536 6 Q9HA77,P18074,P26639,Q8N766,Q06787 5 |
| Muscular hypotonia of the trunk 0.2598793455625685 0.2377025749130696 0.8121117864154406 1.0 0.9822279582372792 70 P07602,Q16851,P20700,Q6ZXV5,Q01433,Q9ULH0 6 |
| Venous thrombosis 0.3024092128526391 0.2348126907947526 0.8143541172771371 1.0 0.9840202421629398 17 P48735,P01889 2 |
| Abnormal shoulder morphology 0.2804067870150682 0.2326059524713839 0.8160674046848522 1.0 0.9849476823182236 30 Q7LGA3,Q6ZXV5,P55011,Q9Y296,P41227,O75175,Q9Y619 7 |
| Abnormality of the forehead 0.28567926063628 0.2324291361194749 0.8162047211293306 1.0 0.9849476823182236 296 Q00577,P61353,Q5SRE5,P20700,P42766,P55011,P62847,Q8WWQ0,Q9Y296,Q9Y3B2,Q9Y487,P15586,O60826,Q9Y4A5,Q15125,Q13428,Q10713,Q07020,P04066,Q6UVJ0,Q9UM00,Q14739,Q99622,P16278,P18077,P21359,Q9UBM7,Q16851,P40855,P11233,P61313,P62081,Q9ULH0,Q86XL3,P56589,Q96L58,Q969N2,P46777,P12955,Q15392,O60934,Q6NW34,Q9UBN7,Q7LGA3,P11166,P13073,Q13045,O75175,Q13426,Q4J6C6,Q9H490,Q6NUK1,P39019,O75845,Q9UGU0,O96011,Q01433,Q9Y4U1,P62244,O15160,P41227,P51798,O60762,Q10471,Q9BZI7,Q9Y619,Q04721,P61254 68 |
| Hyperactivity 0.2627987942961369 0.2308938185184338 0.8173972931065636 1.0 0.9856686351794414 140 Q9UM00,O75503,Q9UBM7,O60934,Q96N66,P55011,P54802,O75175,P15586,P51572,Q9BZI7,Q15125 12 |
| Constipation 0.2518883056467114 0.2308227850271751 0.8174524792746147 1.0 0.9856686351794414 88 P20700,Q92890,P55011,Q8WVX9,P42892,O75165,P12235,Q9UBM7,Q16851,Q9H7D7,P05165,Q7LGA3,Q13045,Q96QK1,P04062,P37268,Q13423,Q10471,Q9BZI7 19 |
| Jerky head movements 0.5550650445166022 0.2295505122986449 0.8184410654008374 1.0 0.9859358035103712 3 Q969N2 1 |
| Abnormal circulating igg level 0.3120285055508293 0.2275944372360357 0.8199615449144515 1.0 0.9859358035103712 11 O95394,P50851,P13051,P18583 4 |
| Exercise induced myalgia 0.3276851594425077 0.2267730255219416 0.8206002398040908 1.0 0.9860648230415436 10 P46020 1 |
| Full cheeks 0.2731886331891638 0.2259915215641528 0.8212080145748604 1.0 0.9862618822133208 34 O75845,Q00577,Q9H7D7,Q9ULH0,O60762 5 |
| Abnormality of the musculature of the limbs 0.2661143145229137 0.22572677558079 0.8214139315964903 1.0 0.9862618822133208 148 Q9BTV4,P07602,P61353,Q99720,P42766,P62847,Q9NZJ4,Q9Y487,Q8WVX9,Q15125,Q07020,P12235,Q14739,P18077,P21359,P61313,O75340,P62081,Q9ULH0,P41229,Q13510,Q9NR77,P05165,P50570,P46777,Q9Y263,P39019,Q99496,P50402,Q9Y6X9,P62244,P61254 32 |
| Large for gestational age 0.3563587954667737 0.2256722070425576 0.8214563760400688 1.0 0.9862618822133208 7 Q969N2,Q9UM00,P50570 3 |
| Aplasia hypoplasia of the vagina 0.5528289025221447 0.2250076153496128 0.8219733499705362 1.0 0.9862618822133208 3 Q8IY37,P51809 2 |
| Insomnia 0.3052923878383596 0.2242944881432991 0.8225281647870826 1.0 0.9862962988625698 14 O95342 1 |
| Osteoporosis 0.2564535533399594 0.2229965958381043 0.8235381559300619 1.0 0.9864668058519472 63 Q969N2,O75845,P12235,P16278,P52788,Q96AY3,Q8WWQ0,Q13510,P05165,Q04721,Q96L58,Q9H1A4 12 |
| Acute leukemia 0.2638889813790864 0.2217246462625589 0.8245282426761766 1.0 0.987392657215848 47 O75533,P46777,Q15645,P61353,P18077,P61313,P42766,O60934,P62847,P61254,P62081,Q13426,P62244,P35658,P39019,Q07020 16 |
| Limb hypertonia 0.2657682355262878 0.2211784738353136 0.8249534696002889 1.0 0.9875214240864796 37 Q15125 1 |
| Abnormal c peptide level 0.5507839127470935 0.2208985584390896 0.8251714198953772 1.0 0.9875214240864796 3 Q16836,A5YKK6 2 |
| Psychomotor retardation 0.2722678680152585 0.2204081001660085 0.8255533375024953 1.0 0.98757985414992 34 P16278,Q9Y619,Q9BT22,P05165,P04062,Q96RQ3 6 |
| Craniosynostosis 0.2674637639033879 0.2166695534044296 0.8284658772117877 1.0 0.9895985344152322 36 Q9UM00,P51798,Q96L58,Q9Y619 4 |
| Bronchitis 0.5486199389137203 0.2165979697364821 0.8285216680965473 1.0 0.9895985344152322 3 O60934 1 |
| Photophobia 0.271518553579828 0.2158917200223293 0.8290721513795662 1.0 0.9898852786609268 34 P07602,P01889 2 |
| Abnormal left ventricle morphology 0.2862940722939521 0.2156993213031465 0.8292221302879854 1.0 0.9898852786609268 24 P10253,P06280 2 |
| Chorea 0.2562205563307637 0.2149266035793248 0.8298245428923994 1.0 0.990108205215346 78 Q01105,P07602,P15289,Q99720 4 |
| Triangular face 0.2626483413319582 0.2147312772260875 0.8299768356453932 1.0 0.990108205215346 39 O94979,P40855,Q96AY3,Q6NUK1,P04062 5 |
| Abnormality of the pubic hair 0.3664278403275318 0.2146218922597436 0.830062124099604 1.0 0.990108205215346 6 Q8IY37,Q9H7N4,P57740,Q8WWQ0,P51809 5 |
| Breathing dysregulation 0.5472981742714305 0.213995290597815 0.8305507296782526 1.0 0.9901715175267474 3 Q10713 1 |
| Hypoplastic fifth toenail 0.3518771331058013 0.2121231488912837 0.832010960419979 1.0 0.9909190638912316 7 O14497,P51532,Q14738,Q92785,Q96GM5,Q8TAQ2 6 |
| Hip contracture 0.3074427249983753 0.2107136012479208 0.8331107606301809 1.0 0.9914039854973652 11 Q96AY3 1 |
| Abnormal intestine morphology 0.2767682420461112 0.2063129898553098 0.8365464323647562 1.0 0.9935740979658496 180 Q9BZI7,Q14739,Q9UBM7,Q15392,O95342,P42766,P55011,P62847,P40855,P08183,P38571,O75844,O60826,P09601,P42892,P01889,P06280 17 |
| Lower limb amyotrophy 0.2955636049625146 0.2061388191252236 0.8366824766024277 1.0 0.9935740979658496 17 Q9NR77 1 |
| Hypertrichosis 0.24550268211098 0.2054705617546368 0.8372044957293765 1.0 0.9939344235199672 92 Q9UM00,P52788,P16278,Q16851,P54802,P53634,P15586,Q9H490 8 |
| Hyposmia 0.3031004759367808 0.2009770915250568 0.8407164869003738 1.0 0.9962829986802187 12 P04062,Q96QK1,O75165 3 |
| Down sloping shoulders 0.2828989428618962 0.1991124031513667 0.8421748191748764 1.0 0.9970133498406828 24 Q9UGU0,Q7LGA3,P55011,Q9Y296,P41227,O75175,Q13620 7 |
| Abnormal circulating methionine concentration 0.3474500260355049 0.1990675947604671 0.8422098695267346 1.0 0.9970133498406828 7 Q9Y4U1,Q99707 2 |
| Smooth philtrum 0.255327991808632 0.1979373822819491 0.8430940559313609 1.0 0.997566419896894 71 P55011,Q9BPU6,Q9Y296,Q9Y3B2,Q9Y487,Q9Y4A5,Q8WVX9,P41229,P52788,Q9UQE7,Q7LGA3,O75175,Q9H490,Q6NUK1,Q9Y263,Q9UGU0,Q9Y4U1,Q01082,P67870,O60762,P42345 21 |
| Migraine 0.2787363911773222 0.1979095323225748 0.8431158459783954 1.0 0.997566419896894 26 P12235,P11166,Q9NQZ5,Q4G176,O96011,P01889 6 |
| Paraparesis 0.2754754308931889 0.1960364192639403 0.8445816605568699 1.0 0.9985212715944064 28 P04062,Q13510 2 |
| Abnormal blood potassium concentration 0.2994418439076557 0.1942783414888555 0.845957943520943 1.0 0.9991092906986306 13 Q13423 1 |
| Delayed closure of the anterior fontanelle 0.3027452558527922 0.1939184581412111 0.8462397305282647 1.0 0.9991825641942405 11 O14802,Q9UQE7,P40855,Q15436,Q9Y487 5 |
| Aplasia hypoplasia involving the pelvis 0.2991313373498414 0.1931451236644961 0.8468453143581756 1.0 0.999378573679373 13 Q96HY6,Q96L58 2 |
| Spastic paraparetic gait 0.459883876444186 0.1928327809241418 0.8470899298085734 1.0 0.9994078647741524 4 Q01433 1 |
| Developmental cataract 0.25551969298627 0.1897454533050236 0.8495086011818755 1.0 0.999716881904678 53 P46777,O96011,P61353,Q5SRE5,O94979,P42766,P18077,P62847,P61313,P36776,P61254,Q8WVX9,P62244,P39019,Q07020,Q9H1A4 16 |
| Hyperhomocystinemia 0.5342957503945889 0.1893775488524366 0.849796919495468 1.0 0.999716881904678 3 Q9Y4U1 1 |
| Generalized joint laxity 0.3012560104372195 0.1887012814797655 0.8503269471578114 1.0 0.999716881904678 11 P36776,Q8WWQ0,P50454,Q9Y487,P36543,Q14807 6 |
| Abnormality of neutrophils 0.2509989943640479 0.1881571095473618 0.8507534935365768 1.0 0.999716881904678 83 P61353,P61254,P42766,P62847,O95394,P26038,Q07020,O75533,Q14739,P18206,P18077,P61313,P02786,P62081,P05165,P46777,P39019,P06744,Q96BN8,Q9Y4U1,Q9Y3C6,Q14126,P61011,P62244,P01889,P50851,Q9H1A4 27 |
| Aplasia hypoplasia of the humerus 0.3373164902697195 0.1874208515409315 0.8513306750997027 1.0 0.999716881904678 8 O14802,O75369,P36776,P53597,Q9Y5S9,O15228,O00116 7 |
| Irregular epiphyses 0.3864298227688902 0.181261656277584 0.856162201300789 1.0 1.0 5 Q14807,Q9NUQ7 2 |
| Downslanted palpebral fissures 0.2551869808908804 0.1803665522779086 0.8568648110791921 1.0 1.0 134 Q00577,Q92890,P55011,Q9Y296,O75844,O60826,Q15125,Q9UM00,Q99622,Q9UBM7,P56589,Q15392,Q7LGA3,O75175,Q6NUK1,P39019,O75845,Q01433,P41227,O60762,Q10471,Q9BZI7 22 |
| Mood swings 0.5288736347896492 0.1796453714564337 0.8574309828146336 1.0 1.0 3 Q13620 1 |
| Bradykinesia 0.2801324330617104 0.1791041586430085 0.8578559166835822 1.0 1.0 23 P12235,P04062,Q96QK1,O75165 4 |
| Abnormal response to acth stimulation test 0.5199318568994782 0.1788378245968894 0.858065044299889 1.0 1.0 2 Q9NW13 1 |
| Hypoplastic fifth fingernail 0.3517570794950512 0.1753762051699166 0.8607840363407662 1.0 1.0 6 O14497,P51532,Q92785,Q96GM5,Q8TAQ2 5 |
| Lipid accumulation in hepatocytes 0.2519144640614287 0.174488176833895 0.861481821759301 1.0 1.0 67 P38571,O43772,Q9Y285 3 |
| Generalized hypopigmentation 0.331853875042678 0.1714183572146388 0.8638948214394411 1.0 1.0 8 Q9Y2U8,O00203,Q15477,Q6PGP7,P35222,O95714,O14617 7 |
| Pneumothorax 0.3376623169138153 0.1713992413512376 0.8639098512664505 1.0 1.0 7 Q96L58 1 |
| Microcytic anemia 0.2956081658883717 0.1693966454251447 0.8654846619396073 1.0 1.0 11 O75027,Q9Y285 2 |
| Atrial arrhythmia 0.3096707848125871 0.1665750923154422 0.8677043933014792 1.0 1.0 10 Q9BTV4,P50402 2 |
| Cytochrome c oxidase negative muscle fibers 0.3354948805460678 0.1655004893944066 0.8685500646634559 1.0 1.0 7 P12235,P42704,Q96RR1,P54098,O00483,O75648 6 |
| Abnormality of the radial head 0.3288835144866707 0.16294976545169 0.8705579872635563 1.0 1.0 8 Q96L58,Q9H1A4 2 |
| Chronic axonal neuropathy 0.5107325383304826 0.1627276221400671 0.8707328975418003 1.0 1.0 2 O15269 1 |
| Abnormal circulating glutamine family amino acid concentration 0.3274155001707032 0.1588258903539626 0.8738060501689338 1.0 1.0 8 P20674,P15104,P30038,O96000,Q9NVS9,P37837,Q9UJS0 7 |
| Limb girdle muscle atrophy 0.2869693686186228 0.1567250810391987 0.8754615195367756 1.0 1.0 14 Q9BTV4,P50402 2 |
| Panhypogammaglobulinemia 0.375170532060024 0.1561946337074588 0.8758796065034562 1.0 1.0 5 Q6PGP7,P26639,Q15477,P18074 4 |
| Ridged nail 0.3751705320600222 0.1561946337074548 0.8758796065034593 1.0 1.0 5 P26639,O60832,P18074,P16615 4 |
| Bilateral microphthalmos 0.3751705320600182 0.1561946337074464 0.875879606503466 1.0 1.0 5 P26639,Q13428,Q9UHX1,P18074 4 |
| Sparse lateral eyebrow 0.3319630635405236 0.1560696364533553 0.8759781316484581 1.0 1.0 7 Q9H7D7,Q00577,Q92643 3 |
| Displacement of the urethral meatus 0.2422430296537539 0.1560212536228007 0.87601626840543 1.0 1.0 115 P61353,Q92890,P42766,P62847,O75844,O60826,Q07020,P18077,Q9UBM7,P61313,P40855,P62081,P56589,P46777,P52788,Q9UQE7,P37268,P39019,O96011,P62244,P41227,Q01082,P51970,P42345,Q9Y619,Q04721,Q13620,P61254 28 |
| Midface retrusion 0.2494573387409975 0.1558120309610978 0.8761811871173981 1.0 1.0 78 Q9UGU0,Q9UM00,Q14739,Q6NUK1,Q6NW34,Q01433,P21359,Q13045,O15160,Q13428,Q9Y487,Q9BZI7,Q15125,Q96L58 14 |
| Adducted thumb 0.2701191401845618 0.1557315535421351 0.8762446244707003 1.0 1.0 26 P42892 1 |
| Goiter 0.3318175707756662 0.1556859829138436 0.8762805464530419 1.0 1.0 7 P48735 1 |
| Abnormal peripheral nervous system morphology 0.2618529435958815 0.1545236376769375 0.8771968748756538 1.0 1.0 153 Q99496,Q9BZI7,P07602,P20700,Q99720,Q01433,P40855,Q9H0B6,P51798,Q9H4A3,Q13510,Q9NR77,Q9Y619,P15289,Q8IV08 15 |
| Absent septum pellucidum 0.2649585896913226 0.1543347031180663 0.8773458359710773 1.0 1.0 31 P55011,O43505,Q15392 3 |
| Tachypnea 0.2802908393280258 0.1522800834390748 0.8789660328255171 1.0 1.0 18 Q9Y619,P35610 2 |
| Acne 0.2828562522155201 0.1521438951372869 0.8790734438581853 1.0 1.0 16 Q92542,P01889,Q92890 3 |
| Lipoatrophy 0.2780166204842916 0.1504043982324951 0.8804455714565151 1.0 1.0 19 Q6NUK1,P18206,P04066 3 |
| Neoplasm of the male external genitalia 0.3180232562073987 0.1487026025551564 0.8817883075312187 1.0 1.0 9 P10644,Q13423,Q01844 3 |
| High palate 0.279545621687474 0.1480942124640343 0.882268416867589 1.0 1.0 211 Q00577,P61353,Q5SRE5,O94979,P42766,P55011,P62847,P61254,Q8WWQ0,Q9Y296,O75844,Q9Y487,O60826,O95394,Q15125,Q13428,Q5KU26,Q07020,Q9UM00,P18077,P21359,P61313,O75340,P40855,P62081,P56589,Q96L58,Q969N2,P46777,P52788,P12955,Q7LGA3,O75175,Q9H490,Q6NUK1,P04062,Q9Y263,P39019,O75845,Q9UGU0,Q9Y4L1,P62244,O15160,P41227,O60762,O96011,Q9BZI7,Q9Y619,Q04721,Q01105 50 |
| Decreased fertility in females 0.3403254926681794 0.1472331789930618 0.8829479729138598 1.0 1.0 6 Q86Y56,O00170,Q15645 3 |
| Primary microcephaly 0.2840368431436237 0.1467328500794427 0.8833428886213053 1.0 1.0 14 Q99496,Q5SRE5 2 |
| Abnormal retinal morphology 0.2761429956126167 0.1417946763263874 0.8872421892574249 1.0 1.0 198 P07602,O75503,P04439,Q92890,P55011,Q9NZJ4,Q9Y296,P06865,Q9Y487,O60826,P50897,O14773,Q9UM00,P51648,Q99622,P16278,Q16851,P40855,Q13510,P56589,P10619,P07686,P50570,P12955,Q7LGA3,O43505,O75175,Q13426,P19404,P04062,Q99496,Q9Y4U1,P41227,O60762,O96011,Q9Y619,P01889 37 |
| Abnormality of the dentition 0.2787873125748139 0.1394932207212636 0.8890604126482464 1.0 1.0 211 Q00577,P20700,P55011,O75844,Q15125,P04066,Q9UM00,Q14739,P51648,P16278,Q9UBM7,Q99622,Q9H7D7,Q9ULH0,Q96L58,P52788,P12955,Q6NW34,Q7LGA3,O75175,P53634,Q6NUK1,Q99496,Q96AY3,P41227,P51798,Q9BZI7,Q9Y619,Q01105,Q9H1A4 30 |
| Functional abnormality of the inner ear 0.281716800459105 0.1393017402273652 0.8892117147876701 1.0 1.0 231 P07602,P20700,P55011,Q9Y296,Q14376,O75844,Q9NSV4,Q9Y4A5,Q8WVX9,O95394,P42892,Q15125,O43837,P06280,P12235,Q9UBM7,P40855,O43676,Q13510,P56589,Q9NR77,Q96L58,Q7LGA3,O15460,Q9H061,O75175,Q13426,P19404,P04062,P35241,P15289,Q8IUX1,O96011,P52565,P35637,P51572,Q9BZI7,P01889 38 |
| Thick hair 0.3658231576988315 0.1368122281513936 0.8911792178670854 1.0 1.0 5 Q9Y487 1 |
| Uplifted earlobe 0.4943781942078243 0.1367814516895017 0.8912035452390117 1.0 1.0 2 Q96GM5 1 |
| Communicating hydrocephalus 0.4293057538316545 0.1349631587175894 0.8926410028480913 1.0 1.0 4 P11166 1 |
| Abnormality of neuronal migration 0.2523207370502299 0.1344188760457072 0.8930713561611066 1.0 1.0 137 P20700,P55011,Q9Y487,Q9Y4A5,O60826,Q5KU26,Q6UVJ0,Q9UBM7,P40855,Q9H7D7,Q86XL3,P56589,Q9UEY8,Q15392,O60934,Q6ZXV5,P15311,O43505,Q13426,Q6NUK1,P37268,Q96N66,Q9Y320,Q9Y3C6,O96011,Q01105 26 |
| Deviation of toes 0.248819917294178 0.1323302793610163 0.8947230585016026 1.0 1.0 38 Q7LGA3,P55011,O75175,Q9BZI7,P04062,Q96L58 6 |
| Feeding difficulties in infancy 0.2618611069053917 0.1320977475420564 0.8949069775017087 1.0 1.0 158 P07602,P10253,Q00577,Q99720,Q92890,Q9Y296,O60826,Q9H4A3,Q9UBM7,Q16851,P40855,Q9H7D7,P56589,P05165,O75175,Q9H490,P37268,P15289,Q99496,P35637,Q9Y4U1,O60762,Q9Y285,O96011,Q9Y619,Q01105,Q96RQ3 27 |
| Short femur 0.3632332878581129 0.1316743955876628 0.895241838511188 1.0 1.0 5 O75369,O00116,Q9UHX1,O14802 4 |
| Decreased activity of mitochondrial complex iv 0.2811217510259921 0.1316598061938045 0.8952533786968704 1.0 1.0 13 P52815,Q9HA77,P20674,P13073,P42704,Q9Y3D9,P82663,Q70HW3,P53597,P43897,O00483,Q5JPH6 12 |
| Emg myopathic abnormalities 0.2604701661144787 0.1314694476597364 0.8954039540035612 1.0 1.0 31 Q9BTV4,P50402,P13473,P50570 4 |
| Irregular menstruation 0.3333333333333315 0.131110156276125 0.895688166972797 1.0 1.0 6 P04150,P10644,O00170,O75616,Q06787 5 |
| Abnormality of urine homeostasis 0.2718694968192218 0.1278602070211625 0.898259602698031 1.0 1.0 187 P10253,P46020,Q14108,O43772,Q14376,P15586,P04066,P06280,P49257,P16278,P54802,P35610,P09601,P12955,O15460,Q4J6C6,P04062,P48735,Q9Y4U1,Q13423,P52565,Q9Y619,P01889 23 |
| Myofibrillar myopathy 0.424821002386639 0.1274571404578232 0.8985785934112165 1.0 1.0 4 Q13642,Q14315,O95817 3 |
| Abnormal anterior eye segment morphology 0.2801156006664487 0.1262415566601623 0.8995407170263208 1.0 1.0 283 P04439,P61353,Q5SRE5,O94979,P42766,P55011,P62847,Q92890,Q9Y296,O75844,O60826,Q9H4A3,Q8WVX9,Q15125,Q13428,Q10713,O43837,Q07020,P04066,P06280,O75533,Q14739,P51648,P16278,P18077,P21359,Q9UBM7,O75340,P40855,Q99622,P36776,P61313,Q9ULH0,Q13510,P56589,Q9NR77,P10619,P12235,Q96L58,Q969N2,P46777,P11166,Q7LGA3,Q6ZXV5,Q07021,O43505,Q13045,O75175,Q13426,P10412,Q6NUK1,P04062,P39019,Q99496,O75845,Q9UGU0,O96011,Q9Y6X9,P62244,O15160,P41227,Q06136,Q10471,Q04721,P01889,P61254,Q9H1A4 67 |
| Recurrent viral infections 0.2959979616009263 0.1255956418461553 0.9000520129408289 1.0 1.0 10 O95394,P33991 2 |
| Hyperthyroidism 0.2956044427859926 0.124479413692922 0.900935699090248 1.0 1.0 10 P12235,O14802,Q92890,Q96RR1,P21964 5 |
| Generalized hypopigmentation of hair 0.3140946857785937 0.1233076763803297 0.9018634623523768 1.0 1.0 8 Q13724,O00203,P10644,Q9Y4I1,O60832 5 |
| Neoplasm 0.2759473199635679 0.121630345055354 0.9031917800279372 1.0 1.0 205 Q92804,P07602,P61353,P61254,P42766,P62847,O60826,O95394,P42892,Q13428,Q10713,Q07020,O75533,P14324,P18077,P21359,Q9UBM7,P61313,P11717,P10619,Q96L58,P50570,P46777,Q15392,O60934,O95342,Q7LGA3,Q01844,P53634,Q13426,Q9H269,P04062,P48735,P33991,P39019,P15289,Q99496,O15160,O60762,Q13423,Q06136,P62244,P35658,P50851,Q9H1A4 45 |
| Prominent nasolabial fold 0.3288656941666389 0.1212500562622735 0.9034929773864836 1.0 1.0 6 Q9Y487 1 |
| Abnormality of the nasolabial region 0.3288656941666389 0.1212500562622735 0.9034929773864836 1.0 1.0 6 Q9Y487 1 |
| Hydranencephaly 0.4831345826234968 0.1209185878525055 0.9037555192230132 1.0 1.0 2 Q92917 1 |
| Cortical dysplasia 0.2604745056761652 0.1205702854167022 0.9040314059035492 1.0 1.0 27 Q96N66,P15311,P55011,O43505,Q9NZ01,P42345,Q13620 7 |
| Lower limb asymmetry 0.3574351978171869 0.1205403869164571 0.9040550887302308 1.0 1.0 5 P07437,Q15555,Q93008,P28482 4 |
| Iris hypopigmentation 0.3574351978171806 0.1205403869164451 0.9040550887302404 1.0 1.0 5 Q9Y4I1,O95714,O00203,O14617 4 |
| Gingivitis 0.4905290176329279 0.1199045769814813 0.9045587387302724 1.0 1.0 3 P53634 1 |
| Abnormal proximal phalanx morphology of the hand 0.4894392149767254 0.1184389330533059 0.9057198787438492 1.0 1.0 3 P42345 1 |
| Vertebral clefting 0.3159593412736177 0.1162189672671744 0.907479004907236 1.0 1.0 7 O75845 1 |
| Toe clinodactyly 0.2644424928784311 0.1161691258096732 0.9075185050875452 1.0 1.0 24 Q9UGU0,Q7LGA3,P55011,Q9Y296,O75175,Q9BZI7 6 |
| Abnormal blood gas level 0.4877300613496845 0.1161659195855957 0.9075210460810434 1.0 1.0 3 Q9Y3E5,A5YKK6 2 |
| Abnormality of coordination 0.2764057159949001 0.1134921721501938 0.9096403687052868 1.0 1.0 300 P07602,O75503,P20700,Q99720,Q14108,P50897,O14773,Q5JRX3,P16278,P40855,O43676,P35610,Q13510,P56589,Q9NR77,P07686,P61916,Q8IV08,Q86SZ2,O15118,O15460,P04062,O14949,P15289,Q99496,Q9Y4U1,Q9NQZ5,Q9Y619,P01889,Q01105 30 |
| Facial cleft 0.3516985608504891 0.1100273803869658 0.9123876603316772 1.0 1.0 5 O15160 1 |
| Broad finger 0.2506867097645432 0.1089750864953316 0.9132222507275762 1.0 1.0 35 Q6NW34,Q7LGA3,P55011,Q9Y296,O75175,Q96L58 6 |
| Aplasia hypoplasia involving bones of the feet 0.2436809802928737 0.1088661252194559 0.9133086750676184 1.0 1.0 68 Q8N0X7,P55011,Q9BPU6,Q9Y296,Q9Y4A5,Q99622,Q9UBM7,P41229,Q13510,Q9UQE7,Q7LGA3,P13073,Q9UBN7,O75175,Q99496,Q9UGU0,Q10471,Q04721,Q13620 19 |
| Aplasia hypoplasia of the epiglottis 0.4735945485519499 0.1086924374932916 0.9134464403231308 1.0 1.0 2 Q15427 1 |
| Peripheral axonal neuropathy 0.241021298972089 0.1083152338928858 0.913745638812179 1.0 1.0 56 P07602,Q01433,Q8IV08 3 |
| Slanting of the palpebral fissure 0.2694086470180364 0.1082533506383925 0.913794725875364 1.0 1.0 185 Q96EK5,Q00577,P20700,Q8N0X7,Q92890,P55011,Q8WWQ0,Q9Y296,O75844,Q9Y487,O60826,Q9Y4A5,Q13428,Q15125,Q6UVJ0,Q9UM00,Q99622,Q9UBM7,P21359,Q14004,O75340,P31150,P40855,P41229,Q86XL3,P56589,Q969N2,Q15645,P52788,Q15392,O60934,Q7LGA3,Q13045,O75175,Q13426,Q6NUK1,P39019,O75845,Q10471,Q9UGU0,O96011,Q01433,O15160,P41227,Q01082,O60762,P42345,Q9BZI7,Q04721,Q13620 50 |
| Thick cerebral cortex 0.412428706303983 0.1080300887661557 0.9139718244908368 1.0 1.0 4 Q9Y487,P43034 2 |
| Hemolytic anemia 0.2558432086961775 0.1051624162313 0.916246932812928 1.0 1.0 30 Q969N2,O60934,P09601,O95394,P50851 5 |
| Obsessive compulsive behavior 0.2479611259607498 0.1040435609577963 0.9171347794903626 1.0 1.0 36 O75503,Q9Y4A5,Q6DKK2,Q5JRX3,Q9H269 5 |
| Abnormality iris morphology 0.2436223076253527 0.1037796823087495 0.9173441905612691 1.0 1.0 74 Q99496,O75533,Q99622,Q9UBM7,P21359,Q7LGA3,P40855,O75340,O43505,O15160,P41227,O60826,P56589,O96011,Q9NR77,Q13428,Q04721,Q10713 18 |
| Recurrent hand flapping 0.4775051124744259 0.1032157033476492 0.917791777007871 1.0 1.0 3 O95714,P55795 2 |
| Abnormal facial shape 0.277586062134627 0.1022479652214591 0.9185598564850772 1.0 1.0 288 Q00577,O94979,P55011,O75844,P15586,Q15125,P04066,P06280,Q9UM00,Q99622,P16278,P40855,P54802,Q9BT22,Q13510,P56589,P10619,P07686,Q96L58,P52788,P12955,Q32P28,O75175,Q9H490,Q6NUK1,P04062,Q10471,Q96N66,Q9Y4U1,Q96AY3,P41227,Q9Y285,P51572,Q9BZI7,Q01105 35 |
| Schwannoma 0.4765304368827465 0.1020387691845493 0.9187259023093012 1.0 1.0 3 P21359 1 |
| Joint laxity 0.2420874911958815 0.1016528516406064 0.9190322271428892 1.0 1.0 66 Q32P28,Q96AY3,Q9Y619,P16278 4 |
| Broad long bones 0.2489188705894545 0.0998888810293441 0.9204325438528462 1.0 1.0 35 Q6NW34,Q7LGA3,P55011,Q9Y296,O75175,Q96L58 6 |
| Abnormal female reproductive system physiology 0.2398615048364522 0.0950027891671696 0.9243126115081832 1.0 1.0 63 Q99496,O60934,O75844,P01889,Q9H1A4 5 |
| Glomerulonephritis 0.2640853694028281 0.0946099460099197 0.9246246495029704 1.0 1.0 18 Q9Y5K6,P52565,Q8N1F7 3 |
| Branchial fistula 0.3425376094419061 0.0942783902217174 0.9248880155499306 1.0 1.0 5 Q13428,O15160 2 |
| Tapered finger 0.243700993889042 0.0942577949552902 0.924904375342877 1.0 1.0 41 P42892,O75175,Q9H4A3 3 |
| Food allergy 0.3995126727266763 0.0898221369476947 0.9284285565534168 1.0 1.0 4 O95394 1 |
| Abnormal urine metabolite level 0.2558907682727156 0.0895092988030655 0.9286771638724912 1.0 1.0 154 P10253,P16278,P12955,Q14108,Q9Y4U1,P54802,Q14376,P15586,P35610,Q4J6C6,P09601,P52565,Q9Y619,P04062,P04066,P06280 16 |
| Palmar pits 0.4562180579216221 0.0892278289717506 0.9289008492600216 1.0 1.0 2 P16615 1 |
| Abnormal soft palate morphology 0.2413851874038221 0.0890651597594015 0.9290301258043498 1.0 1.0 70 P46777,P61353,P18077,P61313,P42766,P52788,P62847,Q15392,Q9Y619,O43505,P61254,P62244,Q13428,P39019,Q07020 15 |
| Retinal hemorrhage 0.3129162599777818 0.0889000197381246 0.9291613678668456 1.0 1.0 6 Q9Y487,P50570 2 |
| Asthma 0.2601449595437067 0.0855677737591816 0.9318100172852176 1.0 1.0 19 P49917,P50851,P12955,Q92890,P42345,Q9UID3,O95394,P21964,P37837 9 |
| Congenital hip dislocation 0.2564366632337773 0.0842584929912649 0.9328509127959406 1.0 1.0 24 Q9Y487,P57678,Q8TD16,Q9UHX1,P21333,Q9BTW9,P36776,Q14807,Q02809,Q13642,P54886,Q9Y3E5,Q14738,P53007,P43034,P32322,Q9NSE4,P62258,P06753,Q93008,Q15738,P36543,Q9Y4R8 23 |
| Prematurely aged appearance 0.2403846404205599 0.0819221299364846 0.9347086364414828 1.0 1.0 39 Q6NUK1,O75844 2 |
| Otosclerosis 0.4466780238500715 0.080011198419924 0.936228349476102 1.0 1.0 2 Q12830 1 |
| Abnormality of the middle ear ossicles 0.4466780238500715 0.080011198419924 0.936228349476102 1.0 1.0 2 Q12830 1 |
| Abnormality of the stapes 0.4466780238500715 0.080011198419924 0.936228349476102 1.0 1.0 2 Q12830 1 |
| Renal hypoplasia 0.2480898071636448 0.0771514238986492 0.938503084517893 1.0 1.0 32 Q9UBM7,Q92890,P41227,Q13426,P39019 5 |
| Impaired visuospatial constructive cognition 0.2943006939684858 0.0770762436297104 0.9385628916064 1.0 1.0 8 Q10713,P11166 2 |
| Abnormality of the metopic suture 0.2590839388162911 0.07538596814398 0.9399076232386374 1.0 1.0 15 O75845,Q00577,Q5SRE5 3 |
| Deep philtrum 0.2554652848587265 0.0747774711356409 0.9403917670510504 1.0 1.0 20 P41227,Q00577,O60934,Q7LGA3 4 |
| Subependymal cysts 0.4398637137989669 0.0740327512873214 0.9409843249981392 1.0 1.0 2 Q9BSJ2 1 |
| Short digit 0.2479723022366297 0.0724693537909879 0.9422283934558155 1.0 1.0 141 P61353,Q8N0X7,P42766,P55011,P62847,Q9Y296,O75844,O60826,O95394,Q07020,Q14739,Q99622,P18077,Q9UBM7,P61313,P31150,P36776,P62081,P41229,Q13510,P46777,Q9UQE7,Q6NW34,Q7LGA3,P11166,P13073,Q13045,O75175,Q6NUK1,P39019,O95831,Q9UGU0,P62244,P51798,Q06136,P42345,Q9BZI7,Q04721,Q13620,P61254 40 |
| Lissencephaly 0.2402245152857647 0.0723613452270012 0.9423143461584504 1.0 1.0 49 Q15392,P20700,Q6ZXV5,Q9Y320,O43505,Q9H7D7,Q9Y487,Q6UVJ0 8 |
| Failure to thrive 0.2755352158845131 0.0701262335947392 0.9440931867083956 1.0 1.0 284 P07602,P10253,P20700,O94979,Q92890,Q14376,P38571,O75844,Q9Y487,O95394,P42892,Q15125,P04066,P12235,Q14739,Q9UBM7,P02786,P40855,Q4G176,O43676,Q9H7D7,Q13510,P56589,P05165,Q96L58,P46777,P12955,Q15392,P13073,O95342,Q04446,Q4J6C6,Q6NUK1,P19404,P04062,P33991,P37268,P39019,Q99496,O75845,Q8IUX1,O96011,Q96BN8,Q9Y4U1,O60762,Q13423,P51572,Q9Y619,P50851,Q96RQ3 50 |
| Abnormality of the endometrium 0.2895186070331111 0.0671093485301086 0.9464946516244136 1.0 1.0 8 Q86W42,P20585,P21912,P52701,P28340,Q07864,P43246 7 |
| Abnormality of fibula morphology 0.272975743081652 0.0664681892390317 0.9470050829938044 1.0 1.0 10 Q96HY6,P16435,O75369,P38919,Q9NR45,Q9Y5S9,Q15427,O75431,P21333 9 |
| Abnormality of the supraorbital ridges 0.2525330106752633 0.0653611682030443 0.9478864412225144 1.0 1.0 22 P40855,Q15436,P38159,Q6PGP7,P56589,O96011,Q6NUK1 7 |
| Decreased specific antibody response to protein vaccine 0.4279386712095314 0.064720100979912 0.948396858106776 1.0 1.0 2 P17812 1 |
| Occipital meningocele 0.3224553536405804 0.0641950551381744 0.9488149147036616 1.0 1.0 5 Q10713,Q92890 2 |
| Atypical absence seizure 0.42623509369675 0.0635040915565213 0.9493651012314052 1.0 1.0 2 P43034 1 |
| Split nail 0.375042618479368 0.060882534442929 0.9514527591351952 1.0 1.0 4 P26639,O60832,P18074 3 |
| Hypoplastic hippocampus 0.4214650766609765 0.0602450243931303 0.951960486533528 1.0 1.0 2 Q9UID3 1 |
| Adenoma sebaceum 0.3736788271394508 0.0594764169573288 0.9525726487594656 1.0 1.0 4 P21912,P52701,P43246 3 |
| Angiofibromas 0.3736788271394508 0.0594764169573288 0.9525726487594656 1.0 1.0 4 P21912,P52701,P43246 3 |
| Platybasia 0.2941270469368603 0.0565386274840895 0.9549127244408916 1.0 1.0 6 Q04721,Q92890 2 |
| Enlarged cisterna magna 0.253152176631689 0.0563652556154959 0.9550508349357644 1.0 1.0 14 O75175,Q10713,Q8WVX9,Q9H490 4 |
| Left atrial enlargement 0.4149914821124275 0.0561546605895355 0.9552185997419014 1.0 1.0 2 Q14315 1 |
| Abnormal left atrium morphology 0.4149914821124275 0.0561546605895355 0.9552185997419014 1.0 1.0 2 Q14315 1 |
| Pulmonary fibrosis 0.2512069312117972 0.0549779125748974 0.9561560603855516 1.0 1.0 18 P04062 1 |
| Fatiguable weakness of proximal limb muscles 0.4246762099522752 0.0530259788970693 0.9577112086607114 1.0 1.0 3 P06753,Q14315 2 |
| Polygenic inheritance 0.3130552719769848 0.052165539289044 0.958396791193997 1.0 1.0 5 O60934 1 |
| Abnormal circulating glutamine concentration 0.4229720518063966 0.0518367152713666 0.9586588003084702 1.0 1.0 3 P15104,P37837 2 |
| Abnormal thyroid hormone level 0.4064735945485431 0.0513262709983665 0.9590655344598676 1.0 1.0 2 Q93008 1 |
| Abnormal cranial nerve morphology 0.2310641722700131 0.0505645153012754 0.9596725393234308 1.0 1.0 57 Q99496,P40855,P51798,Q13510,Q9BZI7 5 |
| Abnormality of the extraocular muscles 0.41956373551465 0.049531137807797 0.9604960232631958 1.0 1.0 3 P54098,P43243 2 |
| Abnormal circulating sulfur amino acid concentration 0.2797317232897042 0.0481797629592453 0.9615729782738772 1.0 1.0 8 Q9Y4U1,Q99707 2 |
| Involuntary movements 0.2699693125700822 0.0457907205144901 0.9634770550107332 1.0 1.0 306 P07602,O75503,P20700,Q99720,Q14108,P55011,P50897,O14773,Q5JRX3,P06280,Q13510,Q9NR77,P07686,P61916,Q86SZ2,P52788,O95342,P04062,O14949,P15289,Q99496,O75845,Q96N66,Q01433,Q9Y4U1,Q9NQZ5,P41227,P51798,Q9Y619,Q01105 30 |
| Panniculitis 0.2805942183702617 0.0455400269677163 0.963676871071173 1.0 1.0 7 Q96BN8 1 |
| Decreased activity of mitochondrial complex iii 0.2805460750853238 0.0454602839273001 0.9637404309849664 1.0 1.0 7 Q9HA77,Q9Y697,Q9H1K1,P43897,P53597,Q5JPH6 6 |
| Abnormal erythrocyte morphology 0.2627320741921737 0.044991593274926 0.9641140097651286 1.0 1.0 184 P07602,P61353,P61254,Q14108,P42766,Q8N8R5,P62847,Q969M3,P38571,O95394,Q07020,P06280,O75533,P18077,P61313,P02786,Q05682,P09601,Q13510,P05165,Q969N2,P46777,O75027,P12955,O60934,P11166,Q01844,Q13426,P19404,P04062,P48735,P39019,O75845,Q9Y4L1,Q9Y4U1,P62244,P51798,Q9Y285,Q10471,P01889,P50851,Q9H1A4 42 |
| Abnormality of earlobe 0.2445964314828019 0.0446561963787681 0.9643813490675208 1.0 1.0 25 P52788 1 |
| Absent brainstem auditory responses 0.4086571233810419 0.042785036410469 0.965872892281508 1.0 1.0 3 Q13724,Q92889 2 |
| Impaired smooth pursuit 0.2467851552355926 0.0426727564469712 0.965962396986526 1.0 1.0 18 Q9NZJ4,P46977,Q13426,Q9NWX6,P43034,Q10713,Q9UBB4 7 |
| Tibial torsion 0.3843270868824465 0.0414089866620051 0.9669698486232908 1.0 1.0 2 P26196 1 |
| Abnormality of t cell physiology 0.2607858126436803 0.0403408336316462 0.9678213997290964 1.0 1.0 10 Q92890 1 |
| Abnormal circulating aspartate family amino acid concentration 0.2724726650378257 0.0399709921137153 0.968116252743809 1.0 1.0 9 Q9Y4U1,Q99707 2 |
| Diaphragmatic eventration 0.3504943743607201 0.0387045795641333 0.9691259221827676 1.0 1.0 4 O60568,P08243,Q68CP9 3 |
| Numerous nevi 0.3734241908006729 0.037740734251572 0.9698943978813076 1.0 1.0 2 P11802 1 |
| Lacticaciduria 0.349130583020797 0.0376590811718132 0.9699595013313134 1.0 1.0 4 O96000,Q9Y697,P53597 3 |
| Generalized hyperreflexia 0.2997953615279644 0.0373303220524672 0.9702216288345862 1.0 1.0 5 P26639,P18074,P19447,P11166 4 |
| Premature graying of hair 0.2734721748036881 0.037102590177114 0.9704032067893892 1.0 1.0 8 P02545,O95453,P49327,Q9Y4I1,P06748,Q13126,O60832 7 |
| Cellular immunodeficiency 0.2734721748036862 0.0371025901771112 0.9704032067893916 1.0 1.0 8 P54819,O95453,Q15813,P21912,P06748,Q9NRZ9,O60832 7 |
| Intellectual disability profound 0.2337962252192202 0.0367560464435262 0.9706795202038256 1.0 1.0 44 Q9BZI7,P52788,Q01105,Q9H490 4 |
| Supernumerary spleens 0.297748976807633 0.0352558671829316 0.9718757143205026 1.0 1.0 5 Q86Y56,P54577,O95202,Q13363 4 |
| Small epiphyses 0.3936729371555724 0.0349829273730356 0.972093354523106 1.0 1.0 3 O95831 1 |
| Polycystic liver disease 0.3446982611660434 0.0343891629833708 0.9725668250483984 1.0 1.0 4 Q9UGP8,P14314,Q14697 3 |
| Cystic liver disease 0.3446982611660434 0.0343891629833708 0.9725668250483984 1.0 1.0 4 Q9UGP8,P14314,Q14697 3 |
| Pituitary growth hormone cell adenoma 0.3446982611660375 0.0343891629833666 0.9725668250484016 1.0 1.0 4 O00170,P10644,Q14697 3 |
| Abnormal scalp morphology 0.2285470379622348 0.0337939031581126 0.9730414977454231 1.0 1.0 114 P61353,P42766,P62847,O60826,Q13428,Q15125,Q07020,Q9UM00,P18077,P21359,Q16851,P40855,P61313,P62081,Q96L58,P46777,P12955,Q9UQE7,O60934,Q6NW34,Q7LGA3,O75175,Q13426,Q6NUK1,P39019,O95831,O15160,P46778,P62244,Q04721,P61254 31 |
| Phimosis 0.3560477001703484 0.0332501661821291 0.9734750933883818 1.0 1.0 2 O60832 1 |
| Trichorrhexis nodosa 0.3888888888888821 0.0328219229720311 0.9738165956261272 1.0 1.0 3 Q6PGP7,P18074 2 |
| Intractable diarrhea 0.388888888888876 0.0328219229720286 0.9738165956261292 1.0 1.0 3 Q6PGP7,Q15149 2 |
| Abnormality of the upper arm 0.2420764994776607 0.0322311018331744 0.9742877533819048 1.0 1.0 21 Q9BTV4,P50402,Q9Y6X9 3 |
| Stomatitis 0.242441902364111 0.0321052925501047 0.9743880827429184 1.0 1.0 16 Q9Y4U1,P61011,P01889,Q9Y4L1 4 |
| Metaphyseal sclerosis 0.3405351397131466 0.0314922330949766 0.9748769861667568 1.0 1.0 4 Q9H1A4 1 |
| Cervical ribs 0.384458077709597 0.0309533874036281 0.975306713305552 1.0 1.0 3 Q9UHX1,P18583 2 |
| Muscle weakness 0.2732674440182999 0.0308377266216696 0.9753989532240728 1.0 1.0 271 P07602,P10253,P20700,Q99720,O43772,P06865,Q5KU26,Q14739,P13473,P40855,O43676,Q13510,P56589,Q9NR77,P07686,O60934,O43505,O15460,Q4J6C6,Q6NUK1,P15289,Q99496,Q15165,P51798,Q9BZI7,P01889 26 |
| Squamous cell carcinoma 0.2416492757559991 0.0302641294963761 0.9758564039754404 1.0 1.0 16 P53634 1 |
| Dilation of virchow robin spaces 0.3373083475298049 0.0299135765236847 0.9761359781952827 1.0 1.0 2 P43034 1 |
| Emg impaired neuromuscular transmission 0.2909276944065467 0.0287413191489219 0.9770709020522894 1.0 1.0 5 P53007,O60313,Q9Y5P6,O75340 4 |
| Leukocytosis 0.2377961362137648 0.0285692358871096 0.9772081482701784 1.0 1.0 28 P49917,O75533,Q9Y4L1,Q96BN8,P10644,Q13426,P35610,P61011,O95394,P11413 10 |
| Nephritis 0.2407490909045035 0.0283967131448963 0.9773457456760848 1.0 1.0 21 Q9Y5K6,P35579,P52565,Q8N1F7,O95394,Q92621,O43707 7 |
| Choking episodes 0.3189097103918144 0.0277780416185836 0.9778391794537368 1.0 1.0 2 P42858 1 |
| Staring gaze 0.3189097103918144 0.0277780416185836 0.9778391794537368 1.0 1.0 2 P42858 1 |
| Abnormal metaphyseal trabeculation 0.2893867047184971 0.0273532452621247 0.9781779891562714 1.0 1.0 5 Q04721 1 |
| Polyuria 0.3334469826116576 0.0269346350344621 0.9785118687686596 1.0 1.0 4 Q9NP81,Q9UNF1,P18583 3 |
| Axial muscle weakness 0.3331060347766789 0.026726975491328 0.9786774974835988 1.0 1.0 4 Q8TD16,Q9Y281,Q9Y5P6 3 |
| Neoplasm of the inner ear 0.301192504258935 0.0264852735901754 0.978870279452484 1.0 1.0 2 P10644 1 |
| Abnormality of the vestibulocochlear nerve 0.301192504258935 0.0264852735901754 0.978870279452484 1.0 1.0 2 P10644 1 |
| Punctate cataract 0.298466780238492 0.0263370263456734 0.9789885223926398 1.0 1.0 2 Q15436 1 |
| Open operculum 0.2981260647359367 0.0263193059199549 0.9790026563472491 1.0 1.0 2 Q92947 1 |
| Spinal canal stenosis 0.2719208461275997 0.0261391107758217 0.97914638182248 1.0 1.0 6 Q96T58,Q8IWS0,Q15813,P10644,O00170 5 |
| Nasogastric tube feeding 0.2390419264649249 0.0260311980798008 0.979232454408114 1.0 1.0 25 Q13724,Q96RE7,Q96N66,P15311,P55011,Q4G176,Q9NZ01,Q9H1A4 8 |
| Abnormal greater sciatic notch morphology 0.3702110542386223 0.0257503008467569 0.9794565028669064 1.0 1.0 3 Q96HY6 1 |
| Small for gestational age 0.2320458555421499 0.0255783627688958 0.9795936444323496 1.0 1.0 79 P61353,Q5SRE5,P42766,P62847,Q969M3,Q07020,P18077,P61313,P31150,P36776,P50570,P46777,O95342,Q6NUK1,P39019,P62244,Q9BZI7,Q9Y619,P61254,Q9H1A4 20 |
| Epiphora 0.2729131175468385 0.0254103244731417 0.9797276760292266 1.0 1.0 2 O60832 1 |
| Reticulated skin pigmentation 0.2729131175468385 0.0254103244731417 0.9797276760292266 1.0 1.0 2 O60832 1 |
| Increased megakaryocyte count 0.3683556575198978 0.0251570817984173 0.9799296698748036 1.0 1.0 3 O75533 1 |
| Abnormal eosinophil morphology 0.2655665926035476 0.0227760965701264 0.981828875251824 1.0 1.0 7 O95394,P61011 2 |
| Delayed eruption of permanent teeth 0.3561690524880608 0.021697021194173 0.982689639957363 1.0 1.0 3 P21281,Q5JRA6 2 |
| Abnormality of body mass index 0.3554873892297133 0.0215246111600972 0.9828271711423452 1.0 1.0 3 P42858,Q9UJS0 2 |
| Minicore myopathy 0.3503749147920854 0.0202978713874518 0.9838057538249994 1.0 1.0 3 Q9Y281,P51114 2 |
| Neoplasm of the eye 0.2360351208763 0.0200023536574082 0.9840414949948846 1.0 1.0 15 Q99496,O75533 2 |
| Oligodontia 0.2372446670034659 0.0195122767762652 0.9844324434569364 1.0 1.0 13 Q6NUK1 1 |
| Abnormal sperm motility 0.3445807770961033 0.0190423303605018 0.9848073367786732 1.0 1.0 3 Q86Y56,Q14697 2 |
| Flat acetabular roof 0.3428766189502311 0.0186988396843601 0.9850813538916487 1.0 1.0 3 O75369,Q14839 2 |
| Abnormal inflammatory response 0.2696550773029821 0.0177135299435464 0.9858673870075676 1.0 1.0 225 Q00577,P04439,P20700,P08183,Q92542,P26038,Q15125,P51648,Q14739,P16278,Q9UBM7,P02786,P11717,Q9H7D7,Q13510,P12955,O60934,O15460,P53634,Q6NUK1,P04062,Q99496,Q9Y4U1,P41227,P51798,P52565,Q06136,Q9Y619,P01889,Q9H1A4 30 |
| Abnormality of metacarpophalangeal joint 0.3367416496250778 0.0175535032710006 0.9859950499694108 1.0 1.0 3 Q15233,P16435 2 |
| Sagittal craniosynostosis 0.3150598584367851 0.0171500507670821 0.98631691003399 1.0 1.0 4 Q92785,P18583 2 |
| Dyskinesia 0.2251563485008203 0.0156694904182506 0.9874980671277576 1.0 1.0 57 Q9BTV4,Q00577,Q96N66,P55011,P35610,P04062,Q01105 7 |
| Abnormal blood transition element cation concentration 0.2583054597967583 0.0153289534310411 0.9877697436970904 1.0 1.0 9 P28288,Q9Y487,O43819,Q6PGP7 4 |
| Knee flexion contracture 0.2346090368285301 0.0146157319005627 0.9883387483518742 1.0 1.0 26 Q7LGA3,O75340,Q96AY3,P23786,Q86XL3,O60762,P49902,P37268 8 |
| White hair 0.2731923601637087 0.0145344309413552 0.9884036102422176 1.0 1.0 5 Q9Y4I1,O95453,P06748,O60832 4 |
| Abnormality of small intestinal villus morphology 0.2608474222572531 0.0139915652209621 0.9888367103580976 1.0 1.0 6 P50851 1 |
| Neoplasm of the ear 0.3012951601908584 0.0132082594707901 0.9894616401111418 1.0 1.0 3 Q96L73,P10644 2 |
| Large basal ganglia 0.2321931914396087 0.0123368637718773 0.9901568565531228 1.0 1.0 15 P55011,Q96N66 2 |
| Epileptic spasm 0.2244881675192439 0.0119207539499179 0.990488839733678 1.0 1.0 57 Q00577,Q96N66,P13073,P15311,P55011,O75340,Q9Y4U1,P36776,Q9NZ01,Q14204,Q9Y3C6,Q01082,P67870,Q13813,Q13510,Q01105 16 |
| Abnormality of facial skeleton 0.2671192100522147 0.0107850513658529 0.991394940847632 1.0 1.0 306 Q00577,P61353,Q5SRE5,O94979,P42766,P55011,P62847,Q92890,P61254,Q8WWQ0,Q9Y296,Q9Y3B2,O75844,Q9Y487,O60826,Q9Y4A5,O95394,Q15125,Q13428,Q07020,P04066,Q9UM00,Q14739,Q99622,P16278,P18077,P21359,Q9UBM7,P40855,P61313,Q9BT22,Q9H7D7,P62081,Q9ULH0,Q86XL3,P56589,Q96L58,Q969N2,P46777,P52788,Q15392,P12955,O60934,Q9UBN7,Q6NW34,Q7LGA3,Q13045,O75175,Q13426,Q4J6C6,Q9H490,Q6NUK1,P04062,P37268,P39019,Q9Y263,O75845,Q9UGU0,Q9Y4L1,P62244,O15160,P41227,P51798,O60762,O96011,Q9BZI7,Q9Y619,Q04721,P50851 69 |
| Abnormal urinary color 0.2673942701227803 0.0106860019292635 0.9914739663097764 1.0 1.0 5 P53004,P36551,P23786,P06132 4 |
| Gonadal neoplasm 0.2340937768021577 0.0105784362650973 0.9915597864415796 1.0 1.0 25 Q13423,O60934 2 |
| Decreased circulating igg level 0.2548124548501871 0.0099108154416785 0.9920924428266588 1.0 1.0 9 P50851,P13051,P18583 3 |
| Glossoptosis 0.2559784671321452 0.0092465126587614 0.992622455436002 1.0 1.0 6 O15160 1 |
| Redundant neck skin 0.2548618219037853 0.0082078407772055 0.9934511640974611 1.0 1.0 6 P82650,Q9Y3D3,O96000,Q9Y487,P36543 5 |
| Abnormal cerebral cortex morphology 0.2673391332546205 0.0068382781568856 0.9945438859593564 1.0 1.0 218 O75503,P20700,P55011,Q9NZJ4,Q9Y296,Q9Y487,Q9Y4A5,Q5KU26,O75165,Q6UVJ0,P11498,Q9UM00,Q9UBM7,Q16851,Q14004,P40855,Q9H7D7,Q86XL3,P56589,O96008,Q86SZ2,Q15392,Q7LGA3,Q6ZXV5,P15311,O43505,O75175,Q13426,Q96QK1,P04062,P37268,Q9Y263,O96011,Q96N66,Q01433,Q9Y4U1,Q9Y320,Q9Y3C6,O60762,P35637,P51572,Q9Y619,Q01105 43 |
| Skeletal muscle atrophy 0.2480920856019431 0.0068154214196982 0.9945621225720966 1.0 1.0 157 Q9BTV4,P50402,P13473,P16278,O60934,Q99720,Q01433,Q9H0B6,O43505,Q15165,Q9H4A3,Q13510,Q9NR77,P07686 14 |
| Polymicrogyria 0.229007875957036 0.0059709333698639 0.995235912758862 1.0 1.0 71 Q96EK5,P55011,Q9NZ01,Q9Y487,Q9Y4A5,Q10713,P18583,P40855,P36776,P56589,Q15392,P15311,Q6ZXV5,O43505,P37268,O96011,Q96N66,Q9Y320,P67870,P42345,Q13620,Q01105 22 |
| Motor delay 0.2676394518272274 0.0045895564165422 0.9963380766501212 1.0 1.0 221 P10253,Q00577,P20700,Q99720,P55011,Q14376,Q5KU26,Q9UM00,Q16851,Q14004,P11233,Q9H7D7,Q9ULH0,P35610,Q13510,Q9NR77,Q96L58,P50570,Q6NW34,Q6ZXV5,O75175,Q4J6C6,P04062,Q96N66,Q01433,Q9H0B6,Q9Y3C6,P41227,P51798,Q10471,Q01105 31 |
| Periorbital fullness 0.2312599163502829 0.004348959513373 0.9965300432868678 1.0 1.0 19 P40855,Q9BZI7 2 |
| Oral leukoplakia 0.2730992158199743 0.0037233511881809 0.9970292024367032 1.0 1.0 4 P06748,O95453,O60832 3 |
| Increased total bilirubin 0.2669621547903127 0.0025537505036808 0.9979624041157158 1.0 1.0 4 P23786,Q9UGP8,P14314 3 |
| Pointed chin 0.2295566797689563 0.0001975538875832 0.999842374804196 1.0 1.0 29 P20700,Q9H490 2 |
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