| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Cognitive impairment 0.4327030560387535 3.6608585284390105 0.0002513715348342 0.6839734847123665 0.0714730545561285 174 Q9Y2R0,Q99720,Q8NBM4,Q9Y487,P07196,O15020,Q9BRK0,P03886,O75352,O95470,Q13144,P50897,P40855,Q8WWI5,O75503,Q5XKP0,Q9NPL8,P00403,P13473,O60313,P12235,O15118,P56589,Q14108,Q9NZ08,P17900,Q9Y4W6,Q9H5K3,Q8N0X7,P61619,Q9UBB4,P03915,O43681,Q9NZJ7,P00846,Q6DKK2,O75381,P21912,P04062,O96008,Q10713,O75306,P21964,P27544,P07602,Q9NQZ5,O43819,P35637,Q13510,Q9H6K4,Q9Y287,Q9NWW5 52 |
| Mental deterioration 0.4664566167236917 3.424402404695707 0.0006161531095585 0.9406369720413152 0.0714730545561285 104 Q9Y487,P03886,O95470,P50897,O75503,Q9NPL8,Q5XKP0,P00403,O60313,O15118,Q14108,P17900,Q9UBB4,P03915,O43681,Q9NZJ7,P00846,O96008,P21912,P04062,Q10713,O75306,P21964,P27544,P07602,Q9NQZ5,O43819,Q13510,Q9Y287,Q9NWW5 30 |
| Abnormality of coordination 0.3880679815195128 3.39545554490431 0.000685144991855 0.9567349571174192 0.0714730545561285 329 Q9BUK6,O96000,P07196,Q8WWV3,O15020,O14949,O43676,P03886,Q86Y39,O75352,O75298,P50897,Q8WWI5,Q5XKP0,Q9C0E8,P56589,P17302,Q9Y276,Q86VD7,Q9NZ08,Q9Y4W6,Q9H936,Q86SQ9,O14653,O75027,P18887,Q9NZJ7,P00846,O14773,P21912,P04062,Q10713,P07602,Q13510,Q9H6K4,Q9H3H5,Q99720,Q7KZN9,Q9Y6M9,Q5H8A4,O95470,Q96AA3,P40855,Q7RTS9,P39210,P00403,Q6P4A7,Q9P0J0,Q14108,P03915,Q6DKK2,Q9Y287,Q9NWW5,Q01105,Q8NBM4,Q9Y487,O43292,Q15067,P40939,Q96IX5,P41440,O75503,Q8IV08,Q9NR77,P12235,O15118,O75340,Q5T8D3,Q8N0X7,O43681,Q9NVI7,O75381,O96008,Q9NQZ5,Q9NX14,Q96CU9,Q9BPX6,Q9BUB7,O95202,Q8N2K0,Q8NBU5,Q9NPL8,P35610,O60313,P29084,Q9Y375,Q9UBB4,Q8NI60,Q92643,Q2TAA5,O15460,O75306,O43819,P35637,Q9Y4P3 95 |
| Optic disc pallor 0.5618542704068863 3.3724525214611027 0.0007450193025071 0.9671219725897456 0.0714730545561285 56 Q96CU9,Q9H3H5,O95298,O96000,Q8WWV3,Q9Y6M9,O43676,P03886,Q86Y39,Q9NPL8,O60313,Q9H061,Q9Y375,P51798,Q96S66,Q9UG56,Q9H0B6,P00846,Q10713,O75306,Q9H6K4,Q9NX14,Q9Y287 23 |
| Sensorimotor neuropathy 0.6281693002759386 3.3489320879813675 0.0008112367751265 0.975731970136548 0.0714730545561285 34 P41440,Q9Y2R0,P39210,P00846,P00403,P07196,O60313,Q9NR77,P05023,P03915,P07602,Q9NZJ7,Q8N2K0,P40939,P03886,Q9Y4W6 16 |
| Functional motor deficit 0.4335290044055552 3.330566765024618 0.0008666937652201 0.9811814601035764 0.0714730545561285 153 Q9Y2R0,Q9H3H5,Q9BUK6,Q99720,P07196,O43292,Q9BPX6,Q15067,Q9HC21,P40939,P03886,O75298,Q15041,Q7RTS9,P00403,P13473,Q9NR77,P12235,O75340,Q9Y276,Q9H2D1,Q9H5K3,Q9NSD9,Q8N0X7,O14653,Q9NWM8,P03915,O43681,Q8NI60,P23786,Q9NZJ7,Q3ZAQ7,Q9H0B6,P00846,O14773,P21912,P04062,P53701,Q53H12,O43819,P07602,P51530,P35637,Q13510,Q9NX14 45 |
| Abnormal circulating lipid concentration 0.5199735815101185 3.3300437422662053 0.0008683234183679 0.9813215772408124 0.0714730545561285 77 O75431,P50402,Q9BTV4,Q15904,Q15392,Q9BV10,O75648,P40939,Q14739,O95470,P40855,Q15800,Q8N511,O75844,P56589,Q16836,Q15056,O75845,P49748,P22830,Q9Y6B6,P23786,Q9NZJ7,Q9NVI7,P37268,P31751,O96011,O75381,Q9UBM7,P07602,Q8NFG4,Q9Y4P3,P50416,P49257,O75880 35 |
| Muscle abnormality related to mitochondrial dysfunction 0.5974519835057264 3.318127992698797 0.0009062294774555 0.9843020648000826 0.0714730545561285 40 Q96CU9,Q9Y2R0,O96000,Q9Y6M9,O43676,O75648,P03886,Q86Y39,Q9NPL8,P00403,O60313,P12235,Q9UBX3,Q9Y375,P03915,P00846,Q53H12,O75306,P51530,Q9NX14 20 |
| Frequent falls 0.5928077526465014 3.310402773037332 0.0009316181090033 0.9860274948514534 0.0714730545561285 41 Q7RTS9,Q9H3H5,P00846,P21912,P04062,Q9NR77,P12235,O75340,P07602,Q9NZJ7,Q13510,P40939 12 |
| Abnormality of the cerebrospinal fluid 0.4366235327484319 3.303080958760926 0.0009562877501037 0.9875222334653836 0.0714730545561285 147 Q96CU9,Q7KZN9,O96000,Q15392,Q9Y6M9,Q8TAA9,O95202,Q9HC21,O43676,P03886,Q86Y39,P40855,Q9NPL8,P39210,P00403,Q9NR77,Q9P0J0,Q9H5K3,Q9Y375,Q9H490,P51798,P13073,P03915,O43681,Q8NI60,P23786,Q9NZJ7,Q6NUK1,Q9NWS8,P00846,Q9UBM7,P04062,P53701,Q10713,P15291,O75306,P21964,O43819,P07602,P08236,Q9NX14,Q96J42,P16435 43 |
| Abnormality of the optic nerve 0.4010642013663386 3.266656556046082 0.0010882561667162 0.9931882414435456 0.0714730545561285 263 O43505,P49902,Q9H3H5,Q96CU9,Q9BUK6,O95298,Q7KZN9,O96000,P07196,Q8NBM4,O43292,Q9BPX6,Q8WWV3,Q9Y6M9,Q15067,O95202,Q9HC21,O43676,O75648,Q8N2K0,P03886,Q86Y39,O75352,Q5H8A4,Q7LGA3,P50897,P40855,Q8WWI5,P41440,Q5XKP0,Q13144,Q9NPL8,P00403,P51572,O60313,Q3ZCQ8,Q9P0J0,P56589,P17302,Q96HR9,Q9NZ08,Q8TCJ2,Q9Y4W6,Q9H5K3,Q9H061,Q9Y375,Q9H490,Q96JX3,P38435,P51798,Q96S66,Q9UHX1,Q9UG56,P03915,O43681,Q96PU5,Q15043,Q9NZJ7,Q9NVI7,P37268,O15460,Q9H0B6,P00846,O75381,Q9UBM7,P04062,P51812,Q10713,O75306,P21964,O43819,P07602,Q9H6K4,Q9NX14,Q96J42,Q9Y287 76 |
| Dementia 0.535351228485613 3.213952711295895 0.0013092123305045 0.9975280332440892 0.0777115761076736 63 Q9Y487,P03886,P00403,O60313,O15118,Q14108,P17900,Q9UBB4,P03915,O43681,Q9NZJ7,P00846,O96008,P21912,P04062,P27544,Q9NQZ5,P07602,Q13510,Q9Y287,Q9NWW5 21 |
| Myoclonic seizure 0.5411729453703843 3.188327090673637 0.0014309856460454 0.9985861969922464 0.0777115761076736 57 Q9H3H5,Q5XKP0,P00846,P21912,P04062,O43292,Q8WWV3,P03915,P07602,Q9NZJ7,Q13510,Q96N66,P03886,Q01105 14 |
| Motor seizure 0.4476223945975865 3.186186590017892 0.001441615881526 0.9986535042948615 0.0777115761076736 107 Q9H3H5,Q9Y6N5,O43292,Q8WWV3,Q96N66,P03886,O75503,Q5XKP0,Q9NZ01,Q9UBX3,O14653,P13073,P03915,Q9NZJ7,P00846,P21912,P04062,P07602,Q9Y320,Q13510,Q01105 21 |
| Abnormal cellular phenotype 0.4012959181552962 3.155967199766538 0.0015996684838657 0.9993480546264808 0.0789300484119182 192 Q96CU9,Q9Y2R0,P14174,O95298,Q7KZN9,O96000,Q15904,Q10469,Q9BV10,Q9Y6M9,Q9BUB7,O43676,O75648,P40939,P03886,Q86Y39,Q14739,O75503,Q9NPL8,P00403,P09601,Q96RD7,O75844,P29084,Q4J6C6,Q3ZCQ8,Q9P0J0,P12235,P17302,Q14108,Q70HW3,P20674,Q16836,Q9Y4W6,Q9UBX3,Q9Y375,P51798,P13073,P03915,Q92643,P23786,Q9NZJ7,P00846,O14773,P21912,P04062,Q9H0U3,O75306,P21964,P07602,P51530,P35637,Q13510,Q9NX14,Q9NWW5,O75880 56 |
| Abnormal circulating cholesterol concentration 0.603739685859383 3.0874034834333184 0.0020191332835104 0.9999049418238178 0.0841632105604441 33 Q15800,Q8N511,O75431,P50402,O75845,Q9BTV4,Q9UBM7,P37268,Q15904,Q15392,Q9BV10,P07602,Q9Y6B6,Q8NFG4,Q9NZJ7,Q9NVI7,Q14739 17 |
| Action tremor 0.5230196523740581 3.062247951861274 0.002196813970535 0.9999579593764184 0.0846394229056062 61 Q99720,Q9BUB7,O15020,Q9BRK0,Q8N2K0,P03886,P41440,P29084,Q9NR77,Q14108,Q5T8D3,Q9Y4W6,Q9UBB4,P03915,O43681,Q9NZJ7,Q9NQH7,P00846,O14773,O75306,P07602,P35637,Q9H6K4,Q9Y287 24 |
| Abnormality of the mitochondrion 0.4498988610928648 3.0406670314721898 0.0023605471916199 0.9999801798850348 0.0859762677376427 98 Q96CU9,Q9Y2R0,O95298,Q7KZN9,O96000,Q9Y6M9,Q9BUB7,O43676,O75648,P40939,P03886,Q86Y39,Q9NPL8,P00403,Q4J6C6,Q3ZCQ8,Q9P0J0,P12235,Q70HW3,P20674,Q16836,Q9UBX3,Q9Y375,P13073,P03915,P23786,P00846,P21912,O75306,P51530,P35637,Q9NX14,O75880 33 |
| Abnormal retinal artery morphology 0.6846392548623688 3.030051538172864 0.0024451201067083 0.9999865597913444 0.0859762677376427 23 P00846,P21964,P03915,P07602,Q9NZJ7,Q13510,P17900,P03886 8 |
| Abnormal biliary tract morphology 0.6748408899430183 3.0174129315154223 0.0025494226720366 0.9999916760239158 0.0881247122459082 24 Q9NSD9,P14174,Q5XKP0,P09601,P04062,Q10713,O43681,P07602,Q14108,Q9Y276,Q9NZJ7,Q14739 12 |
| Poor head control 0.4950153833916809 3.01413886667122 0.0025770981760326 0.9999926697839084 0.0881247122459082 75 Q9H3H5,Q5XKP0,P21912,O96000,Q10713,P13073,Q9Y6M9,Q9P0J0,P07602,O43676,Q9NZJ7,P17900,P03886,Q86Y39,Q9H5K3 15 |
| Mitochondrial myopathy 0.5944248068998932 3.014127367257564 0.0025771958622766 0.9999926730726408 0.0881247122459082 33 Q96CU9,Q9NPL8,Q9Y375,P00846,P00403,Q53H12,O96000,O60313,O75306,Q9Y6M9,P12235,P03915,P51530,O43676,Q9NX14,P03886,Q86Y39 17 |
| Myoclonus 0.4442527876627967 2.9682405078259064 0.0029950987586555 0.9999989260158536 0.0983112503933125 98 Q96CU9,P03886,P50897,Q96AA3,O75503,Q8NBU5,Q9NPL8,P00403,Q14108,Q9UBX3,O75845,O14653,P13073,P03915,Q8NI60,Q9NZJ7,P00846,O14773,O96008,P04062,Q10713,P27544,Q9NQZ5,P07602,Q13510,Q9NWW5,Q01105 27 |
| Central scotoma 0.8346527595165188 2.963430361172083 0.0030423089176834 0.9999991354937016 0.0983112503933125 12 Q9H061,P03886,P00846,O60313,Q8WWV3,P03915,Q9H6K4,Q9Y287 8 |
| Abnormality of hepatobiliary system physiology 0.4744417112555693 2.9495136938471993 0.0031827446798897 0.9999995466462002 0.0983323461526798 83 O75648,P40939,P03886,P40855,Q8N511,Q5XKP0,P39210,P55263,Q96A33,O15118,P56589,Q9Y276,Q8TCJ2,Q16836,O75845,Q9BT22,P22830,P03915,P23786,O15460,Q9NWS8,P00846,O75381,P04062,Q10713,O75306,O43819,Q13510,P50416 29 |
| Abnormal retinal morphology 0.3880522921177816 2.9417385777529894 0.0032637532527157 0.9999996875978574 0.0983323461526798 227 O43505,Q96CU9,Q9H3H5,Q8NBM4,Q7KZN9,Q9Y487,Q9BV10,Q15067,O95202,O75648,Q8N2K0,P40939,P03886,Q5H8A4,Q7LGA3,P50897,P40855,O75503,Q5XKP0,P00403,O60313,P29084,Q9P0J0,Q96HR9,P51648,Q5T8D3,Q9UM00,P17900,Q16836,Q9H5K3,Q7Z4L5,Q9Y375,P38435,Q8NCH0,Q96S66,Q9UHX1,Q9UG56,P03915,Q9NZJ7,P11802,P00846,O14773,O75381,P21912,P04062,P53701,P10619,Q10713,P51812,Q13432,O75306,P21964,O43819,P07602,Q9Y4P3,Q13510,Q9NX14,Q96J42,Q9Y287,Q9NWW5 60 |
| Abnormality of head blood vessel 0.62954401955515 2.939282389889891 0.0032897319117493 0.9999997227649412 0.0983323461526798 28 P00846,P21964,P03915,P07602,Q9NZJ7,Q13510,P17900,P03886 8 |
| Abnormal muscle fiber morphology 0.4931754370949975 2.9330370656080897 0.0033566381631808 0.9999997961714656 0.0983323461526798 72 Q9H3H5,O14979,Q13586,P50402,Q9BUK6,Q99720,Q96RL7,P07196,Q9Y5L0,Q9BTV4,Q9BPX6,P61978,O43676,O75648,P03886,P13807,P00403,O60313,P12235,O75340,Q9Y276,Q70HW3,Q9H2D1,P22626,Q9Y4W6,Q9H5K3,O00483,P03915,Q8NI60,P23786,O95831,Q5JPH6,P00846,O96008,Q8NCE2,P35637,P54098 37 |
| Postural tremor 0.6893374518846008 2.9077698690617355 0.0036401610800604 0.9999999446533366 0.0983323461526798 20 P00846,O14773,Q9NR77,O75306,P03915,Q14108,Q9H6K4,Q9BRK0,P03886 9 |
| Abnormal glycosylation 0.6471821965784641 2.8846994568791087 0.0039178748808281 0.9999999845701376 0.1019983108179244 25 Q96AA3,Q9H3H5,Q8N511,Q9H0U3,Q9Y487,Q9BT22,Q10469,P46977,O75340,P51571,Q2TAA5,Q8TCJ2 12 |
| Abnormal social behavior 0.491310950152942 2.8758458011426655 0.004029465054699 0.999999990765387 0.1039212212478517 70 Q96CU9,O95298,O96000,Q9Y6M9,Q15067,O43676,P03886,Q86Y39,Q9NPL8,Q5XKP0,P29084,Q9P0J0,Q9Y375,Q9UHX1,O43681,Q2TAA5,Q9NZJ7,O96008,O75306,P07602,Q9NX14 21 |
| Reduced tendon reflexes 0.3843195213714429 2.8726273478265303 0.0040707397672192 0.9999999923625108 0.1039212212478517 181 O43505,Q9H3H5,O14979,Q16637,P50402,Q9BUK6,Q99720,Q15067,Q8TAA9,Q9HC21,O75648,Q8N2K0,P40939,P03886,Q5H8A4,Q15041,P41440,P40855,P39210,P35610,O60313,Q9NR77,O15269,P12235,P29084,O75340,Q8TB36,Q9H5K3,Q9BQT8,O14653,Q9BT22,Q9UBB4,P03915,O43681,Q9NZJ7,Q9NWS8,Q9H0B6,P00846,O75381,P04062,Q10713,P05023,O43819,Q969X5,P07602,P35637,Q13510,Q9H6K4,P50416 49 |
| Abnormal activity of mitochondrial respiratory chain 0.5079390866683402 2.8630488264489538 0.0041958589984401 0.9999999957052508 0.1039212212478517 57 Q96CU9,Q9Y2R0,O95298,Q7KZN9,O96000,Q9Y6M9,O43676,O75648,P03886,Q86Y39,Q9NPL8,Q3ZCQ8,Q9P0J0,Q70HW3,Q9UBX3,Q9Y375,P13073,P21912,O75306,Q9NX14 20 |
| Ragged red muscle fibers 0.6745256971532636 2.8605883021266405 0.0042285577683252 0.9999999963051734 0.1041680198627208 21 Q9H3H5,P00846,P00403,P12235,P03915,O75340,Q70HW3,P03886,Q9H2D1 9 |
| Incoordination 0.4877048461314883 2.855067961736451 0.0043027620411926 0.9999999973739704 0.1047423969728415 71 O75503,Q9H3H5,Q7RTS9,P00846,Q6DKK2,O14773,P21912,P04062,Q10713,Q9NR77,P12235,Q15067,O75340,P07602,Q9NZJ7,Q13510,P40939,Q01105 18 |
| Increased csf lactate 0.504430803897328 2.8389648121568567 0.0045260147652832 0.9999999990601232 0.1048691723608931 58 Q96CU9,Q7KZN9,O96000,Q9Y6M9,Q9HC21,O43676,P03886,Q86Y39,Q9NPL8,P39210,P00403,Q9P0J0,Q9Y375,P13073,P03915,Q8NI60,Q9NWS8,P00846,O75306,Q9NX14 20 |
| Abnormal metabolic brain imaging by mrs 0.6782914084888856 2.838403079248454 0.0045339886512907 0.9999999990939938 0.1048691723608931 20 P00403,Q9Y6N5,P35610,P21912,O75306,P03915,P07602,Q9NZJ7,P03886 9 |
| Generalized onset motor seizure 0.5062180711286592 2.8161046269583903 0.0048609833309698 0.9999999997989236 0.1065022638624425 54 Q9H3H5,P00846,P21912,P04062,P03915,P07602,Q9Y320,Q9NZJ7,Q13510,Q96N66,P03886 11 |
| Decreased activity of mitochondrial complex i 0.5503751956575857 2.815713115634042 0.0048669105299048 0.999999999804337 0.1065022638624425 36 Q96CU9,Q9NPL8,Q9UBX3,Q9Y375,Q9NX14,O95298,O96000,Q9Y6M9,O43676,O75648,Q70HW3,P03886,Q86Y39 13 |
| Impaired proprioception 0.5413273958368255 2.811778828366013 0.0049268367972648 0.9999999998515184 0.1065022638624425 39 P41440,Q8N0X7,Q9H0B6,P00846,O14773,P07196,Q8IV08,Q9NR77,O43819,O15020,Q9H6K4,Q9BRK0,O75298 13 |
| Scotoma 0.7365221029592123 2.8104637350036836 0.0049470163662188 0.999999999864694 0.1065022638624425 15 Q9H061,P03886,P00846,O60313,Q8WWV3,P03915,Q9H6K4,Q9Y287 8 |
| Corneal opacity 0.4982140144971266 2.799318810467872 0.0051210547962627 0.9999999999392928 0.1081321339929775 60 O43505,O95202,Q06136,Q5H8A4,P40855,O75844,P56589,P51648,Q9H5K3,O75845,Q9NVI7,Q6NUK1,O75381,Q9UBM7,P04062,P10619,P53701,P08236,Q9Y4P3,Q13510,Q9NX14,Q96J42 22 |
| Abnormal csf metabolite level 0.4941349157863782 2.795844646052566 0.0051764276567241 0.9999999999529584 0.1083031576397709 63 Q96CU9,Q7KZN9,O96000,Q9Y6M9,Q9HC21,O43676,P03886,Q86Y39,Q9NPL8,P39210,P00403,Q9P0J0,Q9Y375,P13073,P03915,Q8NI60,Q9NWS8,P00846,O75306,Q9NX14 20 |
| Reduced visual acuity 0.4128256282014608 2.7684526070589 0.0056323176644315 0.9999999999942408 0.1152110693679695 124 Q96CU9,Q8NBM4,O96000,Q8WWV3,Q9Y6M9,O43676,P03886,Q86Y39,Q13144,P50897,Q96AA3,Q9NPL8,O60313,Q96HR9,P17900,Q9H5K3,Q9H061,Q9Y375,Q96S66,Q9UHX1,O43681,Q15043,Q9NZJ7,P00846,P21912,P53701,Q10713,P07602,Q9H6K4,Q9NX14 30 |
| Difficulty walking 0.4639919317916177 2.7497089061022004 0.0059648227507165 0.999999999998756 0.1178398543913654 79 Q9H3H5,Q99720,O43292,Q15067,Q9HC21,Q15041,O75298,Q7RTS9,Q9NR77,O75340,Q8N0X7,O14653,O43681,Q9NZJ7,Q9H0B6,P00846,O14773,P07602,P51530,Q13510 20 |
| Generalized myoclonic seizure 0.5206563046001547 2.7396902809308408 0.0061497105588155 0.9999999999994696 0.1209355097875224 43 Q9H3H5,P00846,P21912,P04062,P03915,P07602,Q9NZJ7,Q13510,Q96N66,P03886 10 |
| Abnormal tissue metabolite concentration 0.6770780951895328 2.7376364060302385 0.0061882450925283 0.999999999999556 0.1211732436494227 17 P40855,O75381,Q658P3,P07602,P56589,O43681,Q5T8D3,Q9NZJ7,P17900 9 |
| Muscle weakness 0.3644290572191572 2.7241070336721984 0.0064475607446996 0.9999999999998656 0.1215962117058008 300 O43505,O14979,Q13126,Q9BUK6,O96000,P07196,O43676,P03886,Q86Y39,O75298,Q5XKP0,P13473,Q4J6C6,Q3ZCQ8,P56589,P17302,P36551,Q9Y276,Q9Y4W6,Q9H5K3,Q9H936,Q8NCH0,P13073,Q9UHX1,Q9NZJ7,Q15165,P00846,P21912,Q10713,P07602,Q13510,Q9H3H5,Q99720,Q9Y6M9,Q9HC21,Q14739,P40855,Q7RTS9,P39210,P00403,Q9P0J0,Q70HW3,P17900,Q9NWM8,P03915,Q6DKK2,Q969X5,P50402,Q15067,P40939,P41440,Q9NR77,P12235,O75340,Q5T8D3,Q8N0X7,Q9BQT8,O43681,Q15043,P23786,Q6NUK1,O75381,P51530,Q92804,Q9NX14,Q96CU9,Q16637,Q9BPX6,O75648,Q9NPL8,O60313,O15269,Q8TB36,Q9Y375,P51798,Q8NI60,O15460,Q3ZAQ7,P51812,P05023,O75306,O43819,P35637,Q53H12 84 |
| Abnormal brain lactate level by mrs 0.7388679237614529 2.6976640431538654 0.0069827871253427 0.9999999999999888 0.1261463141289501 14 P21912,Q9Y6N5,P00403,O75306,O43819,P03915,P03886 7 |
| Abnormal csf protein level 0.781923933193304 2.697185346000219 0.0069928336509719 0.9999999999999892 0.1261463141289501 12 P00403,Q9NR77,P03915,P07602,Q9NZJ7,P03886 6 |
| Impaired social interactions 0.4948680995563485 2.687233279747728 0.0072046616058065 0.999999999999996 0.1294578803051204 52 Q96CU9,Q9NPL8,Q9Y375,Q5XKP0,O95298,O96000,Q9Y6M9,Q15067,Q9P0J0,Q9UHX1,Q2TAA5,O43676,Q9NX14,P03886,Q86Y39 15 |
| Hypertrophic cardiomyopathy 0.409795412733767 2.6839455919522655 0.0072758945873583 0.9999999999999972 0.1302271445284214 113 Q96CU9,P50402,Q9BTV4,Q7KZN9,O96000,Q9Y6M9,Q9BUB7,P10253,O43676,P40939,P03886,Q86Y39,Q13423,Q96IX5,Q9NPL8,Q5XKP0,P00403,P13473,O60313,P12235,Q9P0J0,Q9Y276,Q96DP5,Q16836,Q9H061,O00483,Q15056,P15586,Q9Y375,Q9P032,P49748,P03915,Q9NVI7,P00846,P21912,Q53H12,P53701,O75306,O43819,O95169,Q9Y4P3,Q9NX14,P50416 43 |
| Hyperintensity of cerebral white matter on mri 0.6468755658758968 2.681673310531881 0.0073254958525643 0.9999999999999976 0.1306047548499997 21 Q96AA3,O75503,P21912,O43681,O75340,P07602,Q9NZJ7,P17900 8 |
| Respiratory distress 0.4906735812747357 2.6615982513673173 0.0077770640099641 0.9999999999999996 0.1343791949576925 54 Q00325,Q10469,P10253,O75648,P51571,P03886,Q16134,Q8TCJ2,P49748,Q9UHX1,P03915,P23786,Q9NZJ7,O95831,P00846,P04062,P53701,O75306,O43819,O95169,P07602,Q969X5,Q13510,Q9NX14,P51970 25 |
| Nephropathy 0.6501508085643128 2.658984537766353 0.0078376559904953 0.9999999999999998 0.1343791949576925 20 Q7Z4L5,P00403,Q10713,Q14108,P03886 5 |
| Hepatic failure 0.4913820238389678 2.65267064287013 0.0079857750831746 1.0 0.1347863100298456 52 P40855,P39210,O75845,O75381,P00846,P04062,Q10713,P22830,O15118,P03915,O15460,P23786,O75648,Q13510,P40939,P03886,Q16836 17 |
| Brain imaging abnormality 0.5142169878880877 2.6515295711588265 0.0080128096062936 1.0 0.1347863100298456 42 Q9H3H5,P00403,Q9Y6N5,P35610,Q9BT22,P21912,Q9BV10,O75306,P03915,P07602,Q969X5,Q9NZJ7,P03886 13 |
| Horizontal nystagmus 0.6277670127429164 2.6514817104809185 0.0080139453206173 1.0 0.1347863100298456 23 Q9H061,P00846,O14773,P04062,Q9NZJ7 5 |
| Vascular skin abnormality 0.4071807928306815 2.646938361099408 0.0081224156512287 1.0 0.1352650637533971 113 Q9Y487,Q14739,P03886,Q06136,P00403,O75844,Q14108,P51648,P98194,P51798,P38435,Q9NWM8,Q8NCH0,P22830,P03915,Q6NUK1,P00846,Q9UBM7,P21912,P04062,P53701,P10619,P51812,O75306,P21964,Q9NX14,P49257 27 |
| Abnormal protein glycosylation 0.6388246655788014 2.6288407488252257 0.0085676472513633 1.0 0.1387325206081458 21 Q96AA3,Q9H3H5,Q8N511,Q9H0U3,Q9Y487,Q9BT22,Q10469,O75340,P51571,Q2TAA5 10 |
| Poor eye contact 0.508021450435192 2.6233640193985712 0.0087066192594829 1.0 0.1402151377397902 43 Q96CU9,Q9NPL8,Q9Y375,Q5XKP0,O95298,O96000,Q9Y6M9,Q9P0J0,Q9UHX1,O43676,Q9NX14,P03886,Q86Y39 13 |
| Progressive neurologic deterioration 0.6379054933199103 2.622787331092334 0.0087213693268966 1.0 0.1402151377397902 21 Q5XKP0,P21912,P04062,Q10713,O43681,P07602,Q9NZJ7,Q9Y287 8 |
| Impaired vibratory sensation 0.5771881816586023 2.6149687301697417 0.0089235624725669 1.0 0.1429642071653913 29 Q8N0X7,Q9H0B6,P00846,O14773,P07196,Q9NR77,O43819,Q9BRK0,O75298 9 |
| Emg neuropathic changes 0.5979061624814515 2.5919854983227384 0.0095423793856126 1.0 0.1498112362274011 26 Q16637,P39210,O14773,O60313,Q9NR77,Q969X5,O43681,P07602,Q8TB36,Q9NZJ7,Q13510 11 |
| Optic atrophy 0.3691116283050221 2.58934968770668 0.0096157392559033 1.0 0.1498112362274011 200 O43505,P49902,Q9H3H5,Q96CU9,Q7KZN9,O43292,Q9BPX6,Q15067,O95202,Q9HC21,Q8N2K0,P03886,O75352,Q86Y39,Q5H8A4,Q13144,P50897,P40855,Q8WWI5,P41440,Q5XKP0,P00403,P51572,O60313,Q3ZCQ8,Q9P0J0,P56589,P17302,Q96HR9,Q8TCJ2,Q9Y4W6,Q9H5K3,Q9H061,Q9H490,Q96JX3,P51798,P03915,O43681,Q96PU5,Q15043,Q9NZJ7,Q9NVI7,O15460,Q9H0B6,P00846,O75381,Q9UBM7,P51812,O75306,P21964,O43819,P07602,Q9H6K4,Q96J42 54 |
| Optic neuropathy 0.5897830530034912 2.588296145607935 0.009645201808617 1.0 0.1498112362274011 27 Q96CU9,Q9NPL8,Q9Y375,P00846,O96000,Q9Y6M9,Q9P0J0,P03915,O43676,Q9NX14,P03886,Q86Y39 12 |
| Visual loss 0.4815109645696763 2.5692976635498455 0.0101904882541556 1.0 0.1556427239351379 54 P50897,O75503,P00846,P51798,O14773,P00403,P53701,O60313,Q10713,P03915,O15460,P07602,Q9NZJ7,Q9NX14,P40939,P03886,Q9NWW5 17 |
| Impaired vibration sensation in the lower limbs 0.7144690374094173 2.562500101288645 0.0103921557329182 1.0 0.1557134965902098 14 Q9H0B6,P00846,Q9NR77,Q9BRK0,O75298 5 |
| Gait ataxia 0.4543880871255951 2.559445667175965 0.0104839242577932 1.0 0.156473423287324 75 P07196,O43292,P03886,Q5H8A4,P41440,Q8IV08,P29084,Q9NR77,P12235,O15118,Q14108,Q9UBB4,P03915,O43681,Q9NZJ7,Q9NVI7,P00846,O14773,Q10713,P07602 20 |
| Abnormal pyramidal sign 0.3935406876222463 2.5160911197173053 0.0118664499307361 1.0 0.16938340679948 130 P49902,Q99720,Q8NBM4,P07196,Q15067,Q9BRK0,Q8N2K0,P40939,O75298,P41440,Q8WWI5,P51572,O60313,Q9NR77,P29084,Q9P0J0,P51648,Q9NZ08,P17900,Q9Y4W6,Q9H5K3,Q8N0X7,Q9UBB4,O43681,Q8NI60,Q15043,Q9NZJ7,P00846,O14773,Q6DKK2,P21912,P51812,O75306,P07602,P35637,Q9H6K4 36 |
| Polyneuropathy 0.6130239308257778 2.501945688218528 0.0123512871025914 1.0 0.1746715972347968 22 P00846,P03915,P07602,Q9HC21,Q9NZJ7,Q8N2K0,P03886,Q15041 8 |
| Cherry red spot of the macula 0.7963547817205013 2.4950880235816486 0.0125925887768909 1.0 0.1775361285406596 9 P17900,P07602,Q13510,Q9NZJ7 4 |
| Hypopigmented skin patches 0.6048100027526876 2.4936653385707386 0.0126431686024353 1.0 0.1777024494980324 23 P53701,P21964,Q9NZJ7,P21912 4 |
| Cerebellar atrophy 0.3872802072073456 2.479685589466401 0.0131498277545587 1.0 0.1815497817332023 139 Q96CU9,O43292,O15020,O75648,Q8N2K0,Q5H8A4,P41440,O75503,Q8WWI5,Q5XKP0,Q9C0E8,P51572,Q8IV08,O60313,P46977,P29084,P12235,Q14108,Q9Y276,Q8TCJ2,Q9Y4W6,Q9H936,Q8N0X7,Q9H490,O75208,O75845,Q96JX3,P51798,Q9BT22,Q9UBB4,P13073,Q8NI60,Q15043,Q92643,Q9NVI7,O14773,Q6DKK2,Q10713,Q9Y320,Q9H6K4 40 |
| Schizophrenia 0.6341488142877434 2.470542794691047 0.0134908176215775 1.0 0.1815497817332023 17 P04062,P21964,P07602,Q9NZJ7,P16615 5 |
| Biliary tract abnormality 0.5661155823556598 2.4689069474043928 0.0135526455336314 1.0 0.1815497817332023 28 P14174,Q5XKP0,P09601,P04062,Q10713,O43681,P07602,O95202,Q14108,Q9Y276,Q9NZJ7,Q14739 12 |
| Periventricular white matter hyperintensities 0.7908625736278244 2.468487235878473 0.01356854910426 1.0 0.1815497817332023 9 P17900,O75503,P07602,Q9NZJ7 4 |
| Mania 0.6765358324293506 2.4663586850378665 0.0136494575524064 1.0 0.1815497817332023 15 P00403,P21964,P03915,P03886,P16615 5 |
| Lacticaciduria 0.8625476838415015 2.4627578275634296 0.0137873004995259 1.0 0.1815497817332023 7 P03915,O96000,P03886,P00846 4 |
| Elevated pulmonary artery pressure 0.5871819627005062 2.4627242659849125 0.0137885910177115 1.0 0.1815497817332023 25 P51798,P00403,P04062,O96000,O75844,Q6NUK1,P03915,P17302,Q14108,P20674,O14678,P03886 12 |
| Abnormal speech prosody 0.7887911274697961 2.4584317918352543 0.0139545281474533 1.0 0.1832081603771669 9 P04062,P03886,P00846 3 |
| Chorea 0.4295335040167408 2.4536040724244197 0.0141432607017026 1.0 0.1848713586448626 85 Q99720,Q9BPX6,Q96N66,P03886,Q96IX5,Q5XKP0,Q9P0J0,Q86VD7,P17900,Q9NZ01,P03915,O43681,Q9NZJ7,P00846,O75306,O43819,P07602,Q9H6K4,Q01105 19 |
| Erythema 0.618610773983642 2.4531302580941543 0.0141619046015597 1.0 0.1848713586448626 20 P00403,P53701,P22830,P03915,P51648,Q9NX14,P03886,Q06136,P98194 9 |
| Pace of progression 0.3632865237821574 2.448112949759425 0.0143606629297265 1.0 0.1858772811977606 171 Q9H3H5,O14979,Q16637,Q13126,P50402,Q99720,P07196,Q9Y6M9,O15020,Q9BRK0,Q8N2K0,O75298,O95470,P41440,Q8NBU5,Q5XKP0,P39210,P55263,Q8IV08,O60313,Q9NR77,P12235,Q9P0J0,O75340,Q8TB36,Q14108,Q9Y4W6,P15586,Q12769,O14653,P61619,Q15043,Q3ZAQ7,Q9H0B6,O14773,P04062,Q10713,P05023,P27544,Q9NQZ5,P51530,Q13510,Q9NR28 43 |
| Hyperreflexia 0.3596043458715207 2.4413148804233553 0.0146338888764445 1.0 0.1880355950592701 246 P49902,Q96CU9,Q9H3H5,Q99720,Q8NBM4,Q7KZN9,O43292,O15020,O14949,Q15067,Q9BRK0,Q96N66,Q8N2K0,P03886,Q14739,O75298,Q15041,Q96IX5,Q96AA3,P40855,Q8WWI5,Q7RTS9,Q5XKP0,O75503,Q8NBU5,O60313,Q9NR77,P29084,Q3ZCQ8,Q9P0J0,P56589,P17302,O75340,Q9Y276,Q96HR9,Q9NZ08,P17900,P20674,Q9Y4W6,Q9H5K3,Q9H936,Q86SQ9,Q8N0X7,Q9BQT8,O75208,Q9UBB4,Q86XL3,P13073,P03915,O43681,Q8NI60,Q15043,Q2TAA5,Q9NZJ7,Q9H0B6,P00846,O14773,Q6DKK2,P21912,P04062,O75381,Q10713,O75306,P07602,Q9Y320,P35637,Q9Y4P3,Q9H6K4 68 |
| Clumsiness 0.6099418665504998 2.436485930397798 0.0148307463925139 1.0 0.1882395567049827 21 O75503,O14773,Q9NR77,Q15067,P07602,Q9NZJ7,Q13510 7 |
| Hypocholesterolemia 0.7675936965981696 2.4349400903243796 0.0148942554785262 1.0 0.1885234215541643 10 Q15800,Q9UBM7,Q9BV10,P07602,Q8NFG4,Q9NZJ7,Q9NVI7,P37268 8 |
| Abnormal peripheral myelination 0.5082744205254607 2.431149355658141 0.0150510088054287 1.0 0.1899827061886351 35 Q9H0B6,P39210,P00846,Q9NR77,O15269,P03915,O43681,P07602,Q9NZJ7,P03886 10 |
| Mucosal telangiectasiae 0.7980841474219453 2.425837071854898 0.0152731252741242 1.0 0.1905118391571204 8 Q14739,P21912 2 |
| Ankle clonus 0.690113461307541 2.425289461158651 0.0152961851643542 1.0 0.1905118391571204 14 Q8N0X7,O75298,P07602,Q9NZJ7 4 |
| Limb ataxia 0.5748615161106014 2.4236498725573075 0.0153654116304475 1.0 0.1905118391571204 26 P41440,O14773,Q9BUK6,P04062,Q9UBB4,P07196,Q8IV08,Q10713,Q9NR77,O15020,Q14108,O75298,Q9Y4W6 13 |
| Increased cerebral lipofuscin 0.9110275689223074 2.422412286434561 0.0154178473084882 1.0 0.1905118391571204 6 P50897,O14773,P07602,Q9NZJ7,Q9NWW5 5 |
| Progressive gait ataxia 0.7286594744782944 2.4189558791599657 0.0155651280130459 1.0 0.1910347695651776 12 P00846,O14773,O43681,P07602,Q9NZJ7 5 |
| Diffuse white matter abnormalities 0.7795628008840506 2.413483184657181 0.0158008569664371 1.0 0.1921546370230255 9 Q9H936,O75306,O43819,Q3ZCQ8,Q9H5K3 5 |
| Basal ganglia calcification 0.7789869047237373 2.410669934008853 0.015923251472045 1.0 0.1921546370230255 9 P03915,P03886,O60313,P00403 4 |
| Muscle stiffness 0.6111025580083179 2.403363641815337 0.0162450242382097 1.0 0.1921546370230255 20 Q8NBU5,P46020,Q13586,P52732,P00846,Q15392,P49748,P07602,P23786,Q9NZJ7,Q9BRK0,P54098 12 |
| Ectopic calcification 0.4610839547693129 2.4027682201536957 0.0162714969805617 1.0 0.1921546370230255 59 P40855,P03886,O75431,O75845,P38435,P00403,O75381,Q9UBM7,P04062,O60313,O75844,P03915,P56589,P17302,P08236,P23786,O15228,Q14739 18 |
| Spastic gait 0.597424484346591 2.395108204601097 0.0166154610807134 1.0 0.1942143945709922 22 P49902,Q8N0X7,O75298,Q15043,Q9BRK0,Q15041 6 |
| Telangiectasia 0.5315847992277006 2.3867092697990056 0.0169999290123874 1.0 0.197699682067917 31 P03886,P00846,P21912,P03915,Q14739 5 |
| Diffuse cerebral atrophy 0.6620440854985318 2.3809960188709964 0.0172658985497988 1.0 0.2002844231776669 15 Q10713,Q9NZJ7 2 |
| Emg chronic denervation signs 0.6605583686299069 2.372194171620677 0.0176827952299269 1.0 0.2046024437967815 15 P39210,O60313,Q969X5,P07602,O43681,Q9NZJ7,Q13510 7 |
| Bulbar signs 0.6800882095679756 2.368134558315672 0.0178780324364005 1.0 0.2063404146689853 14 P00846,Q99720,P04062,P03915,P07602,O43681,Q9NZJ7,P03886 8 |
| Peripheral demyelination 0.6105666306126832 2.3623547889431005 0.0181592540219188 1.0 0.2085355938055946 19 P00846,Q9NR77,P03915,O43681,P07602,Q8TB36,Q9NZJ7,P03886 8 |
| Macular degeneration 0.6984614902136627 2.3605159898134804 0.0182495315646773 1.0 0.2086902848573989 13 P50897,P04062,P51648 3 |
| Abnormal mitochondria in muscle tissue 0.5793732184947848 2.359087937770973 0.0183199139461009 1.0 0.2088105614453601 24 Q96CU9,Q9NPL8,Q9Y375,P00403,O96000,Q9Y6M9,P03915,O43676,Q9NX14,P03886,Q86Y39 11 |
| Exercise intolerance 0.5063294142357618 2.349573636029916 0.0187949261265114 1.0 0.2136931799297158 34 Q9NSD9,P46020,Q9Y2R0,P00403,P13473,P12235,P03915,Q8NI60,P51530,Q9Y276,P23786,Q53H12,P40939,P03886,Q9H2D1 15 |
| Slowly progressive 0.4546079764286689 2.343831014862935 0.0190868169886322 1.0 0.2163542274557568 60 Q16637,Q13586,Q9H3H5,P50402,O14979,Q99720,P07196,O15020,Q9BRK0,Q8N2K0,P41440,Q8IV08,Q9NR77,P12235,Q9P0J0,O75340,Q9Y4W6,Q3ZAQ7,O14773,P05023,P51530,Q96BR5 22 |
| Abnormal myocardium morphology 0.3540192020016733 2.3421963243311636 0.0191706277492442 1.0 0.2163542274557568 178 Q96CU9,P50402,Q00325,Q9BTV4,Q8NBM4,Q7KZN9,O96000,Q9Y6M9,Q9BUB7,P10253,O43676,P40939,P03886,Q86Y39,Q13423,Q96IX5,P40855,P13807,Q9NPL8,Q5XKP0,P00403,P13473,O60313,P29084,P12235,Q9P0J0,P56589,Q14108,Q9Y276,Q9NZ08,Q96DP5,Q16836,P22626,Q9H5K3,Q9H061,O00483,Q15056,P15586,Q9Y375,Q9P032,Q9BT22,P49748,P03915,P23786,O00170,Q9NVI7,O96011,Q9NWS8,P00846,O75381,P21912,P04062,P53701,Q53H12,O75306,O43819,O95169,P42167,Q96DA6,P08236,Q9Y4P3,Q9NX14,P50416,P54098,O76024 65 |
| Abnormality of pulmonary circulation 0.5340074234399017 2.3402133763234563 0.019272725348896 1.0 0.2168378466141736 30 P51798,P00403,Q8NBM4,P04062,O96000,O75844,Q6NUK1,P03915,P17302,Q14108,Q9NZ08,O14678,P03886 13 |
| Progressive psychomotor deterioration 0.7799535563530128 2.339179395722358 0.0193261509766402 1.0 0.2168378466141736 8 P07602,Q10713,Q9NZJ7,P21912 4 |
| Fluctuations in consciousness 0.7643034304209229 2.338613381901791 0.0193554516074196 1.0 0.2168378466141736 9 P00403,P04062,O75306,O43819,P03915,O95169,P03886 7 |
| Hypersplenism 0.778436804339808 2.3318883508537005 0.0197065654666723 1.0 0.22020109180744 8 P04062,P07602,Q9NZJ7 3 |
| Lower limb spasticity 0.4196745785481237 2.331029988932027 0.0197517784227101 1.0 0.22020109180744 85 P49902,Q96CU9,Q99720,Q7KZN9,Q9BRK0,Q15041,O75298,Q5XKP0,O60313,Q9P0J0,P56589,P17302,Q8N0X7,Q9UBB4,Q9NZJ7,Q9H0B6,P00846,Q6DKK2,P21912,P04062,O75306,P07602,P35637,Q9H6K4 24 |
| Hepatomegaly 0.3532232145728711 2.3296658133161503 0.0198238207554906 1.0 0.2204678318001406 177 Q96CU9,P14174,Q9H3H5,O75431,O96000,Q15904,Q9Y6M9,Q15067,Q9BUB7,Q9HC21,O43676,O75648,P40939,P03886,Q86Y39,Q14739,Q96AA3,Q7Z2Z2,P40855,Q9NPL8,P39210,P09601,P35610,Q96A33,O15118,O75340,P56589,P36551,Q14108,P20674,Q86SQ9,Q9Y375,O75845,P51798,Q658P3,Q9BT22,P03915,P23786,Q9NZJ7,Q9NVI7,P31751,Q9NWS8,P00846,O75381,Q9UGP8,P04062,Q9H0U3,Q10713,O75306,P07602,P08236,Q13510,Q9NX14,P50416,Q01844,O75880 56 |
| Weakness due to upper motor neuron dysfunction 0.3756662282842891 2.3281299945273304 0.0199052020369774 1.0 0.2208368903957157 143 P49902,Q96CU9,Q8NBM4,Q7KZN9,Q9BRK0,P03886,Q13423,O75298,Q15041,Q7RTS9,Q5XKP0,P00403,P51572,O60313,P29084,Q9P0J0,P56589,P17302,Q9NZ08,P17900,Q8N0X7,Q9UBX3,P03915,O43681,Q9NZJ7,Q9H0B6,P00846,Q6DKK2,P21912,P04062,O75306,P07602,P35637,Q13510,Q9H6K4,P50416 36 |
| Cns demyelination 0.6713688483034296 2.318100240413049 0.0204438738572756 1.0 0.2258270425164729 14 P40855,Q15067,P07602,P51648,Q9NZJ7,Q5H8A4 6 |
| Abnormality of the coagulation cascade 0.4755409058286645 2.317254423639247 0.0204898764347372 1.0 0.2258270425164729 43 Q96AA3,Q7Z2Z2,Q9H3H5,Q5XKP0,Q96JX3,P38435,Q9Y487,Q10469,Q9BV10,Q16836,P51571,O75648,O75352,P40939,P49257,Q4KMQ2 16 |
| Abnormality of the biliary system 0.3835172282926797 2.3166419666913973 0.0205232432848929 1.0 0.2258270425164729 118 Q9UJW0,P14174,Q9H3H5,Q15904,O95202,O75648,P40939,Q14739,Q5H8A4,P40855,Q8WWI5,Q5XKP0,P39210,Q16134,P55263,P09601,Q96A33,O15118,P56589,P36551,Q9Y276,Q14108,Q9NSD9,P28288,Q15056,Q9Y5U9,O75845,P49748,P22830,O43681,Q9NZJ7,Q5JPH6,O96011,O75381,Q9UBM7,Q9UJS0,P04062,Q10713,P21964,P07602,Q9Y4P3,Q13510,P54098 43 |
| Gait disturbance 0.3380021502820352 2.3070349738239213 0.021052870469882 1.0 0.2258270425164729 324 Q9BUK6,P07196,O15020,O14949,P03886,O75298,Q5XKP0,Q9C0E8,P13473,O75844,Q4J6C6,P17302,Q9NZ08,Q9Y4W6,Q86SQ9,O14653,Q8WVQ1,Q9NZJ7,Q9H0B6,P00846,O14773,P21912,P04062,Q10713,P07602,Q13510,Q9H6K4,Q9H3H5,Q99720,Q9HC21,Q9BRK0,Q96N66,Q5H8A4,Q7LGA3,Q7RTS9,P39210,P00403,Q14108,P03915,P49902,P50402,Q8NBM4,O43292,Q15067,P40939,Q15041,P41440,O75503,Q8IV08,Q9NR77,P12235,O15118,O75340,Q5T8D3,Q8N0X7,Q9BQT8,Q96JX3,O43681,Q15043,Q9NVI7,P51530,Q96CU9,Q10469,Q9BPX6,O75648,Q13144,Q8NBU5,O60313,P29084,O15269,Q8TB36,Q9UBB4,P51812,P05023,O43819,P35637,Q9Y4P3 77 |
| Gowers sign 0.6476673511650602 2.295427819806969 0.0217086185578134 1.0 0.2282994601827938 15 Q9H3H5,Q9BUK6,O75340,P51530,Q5T8D3,Q13510,Q3ZAQ7,Q9H5K3 8 |
| Bilateral tonic clonic seizure with generalized onset 0.7708169677279187 2.2951623028944663 0.0217238246703836 1.0 0.2282994601827938 8 P04062,Q13510 2 |
| Inverted nipples 0.7393023026016717 2.2922300295712272 0.0218923729781752 1.0 0.2290202122968014 10 Q96AA3,Q9H3H5,Q10469,Q9BV10,Q15067,P56589,Q2TAA5 7 |
| Thickened skin 0.3872570218359162 2.291343635754029 0.0219435467270958 1.0 0.2290326448828092 101 P14324,Q9H3H5,O75431,P50402,Q14739,Q06136,O75352,O95470,Q7Z2Z2,Q15800,P40855,O75844,P29084,O15269,P56589,P51648,P98194,Q9NWM8,P16615,P31751,O75381,P21912,P04062,P42167 24 |
| Papule 0.6040229417582413 2.285614419509839 0.0222768258452648 1.0 0.2317747310865586 18 O75844,P16615,P38435,P21912 4 |
| Elevated hepatic transaminase 0.3825332495864272 2.284900773597698 0.0223186466741291 1.0 0.2317747310865586 103 Q9H3H5,O75431,Q15904,Q9BV10,Q15067,P10253,O75648,P40939,Q14739,Q7Z2Z2,P40855,Q8N511,Q5XKP0,P39210,P55263,P12235,Q9Y276,P20674,Q16836,Q9NSD9,P28288,Q86SQ9,Q9Y5U9,O75845,Q658P3,P49748,Q9Y6B6,P23786,Q2TAA5,Q9UJS0,Q9P2J5,Q10713,Q96DA6,Q13510,P50416,P54098,O75880 37 |
| Psychomotor deterioration 0.7529713676293773 2.282569933848295 0.0224557136810363 1.0 0.2317747310865586 9 P50897,P07602,Q9NZJ7 3 |
| Brittle hair 0.6025010257416673 2.275678313388124 0.0228652702719349 1.0 0.2328192630800133 18 Q9Y487,O75844,P29084,P17302,Q9NVI7,Q6NUK1 6 |
| Ventricular preexcitation 0.7508339001627097 2.271956448247951 0.0230891409414901 1.0 0.2345774806960265 9 P00846,P00403,P13473,O75306,P03915,P10253,P03886 7 |
| Dilated cardiomyopathy 0.4707367671705574 2.271093316281704 0.0231413295230136 1.0 0.2345875483947973 43 Q9BTV4,P40939,P03886,P00403,P13473,P12235,Q16836,P49748,P03915,P23786,P00846,P53701,O75306,O43819,O95169,P42167,Q96DA6,Q9NX14,P54098 19 |
| Abnormal vascular physiology 0.453126501137587 2.2589975477473057 0.0238835374171697 1.0 0.2400082706366339 51 P51798,P00403,Q14739,Q8NBM4,O96000,Q9NWM8,O75844,Q6NUK1,P04062,P03915,O15460,P17302,Q14108,Q9Y4P3,Q9NZ08,O14678,P03886 17 |
| Delusions 0.6007594157325052 2.256605771576345 0.0240327194106804 1.0 0.2409582501963625 17 Q9UJS0,P04062,P49770,P21964,P07602,O43681,P36551,Q9NZJ7,Q13144 9 |
| Abnormal choroid morphology 0.5091913465610012 2.2557231120366903 0.024087977201449 1.0 0.2409849596878593 32 O43505,P40855,Q96J42,Q5XKP0,O75381,P53701,Q10713,P56589,Q9NX14,P40939,Q9H5K3 11 |
| Ambiguous genitalia 0.582306610351489 2.2482144988964214 0.024562515591165 1.0 0.2446640139972137 21 O75845,P53701,Q15392,Q8TAA9,Q9NX14,Q96J42,P16435 7 |
| Blindness 0.412849583273803 2.24528191544031 0.024750040256235 1.0 0.2450505502694132 85 Q96CU9,Q8NBM4,O96000,Q9Y6M9,O43676,P03886,Q86Y39,Q13144,P50897,Q9NPL8,Q96HR9,P17900,Q9H5K3,Q9Y375,P51798,Q9NZJ7,P00846,P21912,P53701,O75306,P07602,Q9H6K4,Q9NX14 23 |
| Hallucinations 0.4589210290456333 2.240666101156805 0.0250477114792531 1.0 0.2450505502694132 46 P50897,O75503,Q8N0X7,O96008,Q6DKK2,P04062,O60313,P21964,O43681,P07602,P35637,P36551,Q9NZJ7,Q9NWW5 14 |
| Abnormal chorioretinal morphology 0.5137942379221007 2.239870943544635 0.0250993024966779 1.0 0.2450505502694132 31 O43505,P40855,Q96J42,Q5XKP0,O75381,P53701,Q10713,P56589,Q9NX14,P40939,Q9H5K3 11 |
| Loss of speech 0.5915673196921979 2.2365871548376397 0.0253133352249019 1.0 0.2456642266308492 19 P50897,O15118,P07602,Q9NZJ7,P17900 5 |
| Hyperesthesia 0.9649561952440546 2.2356348010517655 0.0253757030323056 1.0 0.2456642266308492 2 Q9NZJ7 1 |
| Bilateral tonic clonic seizure with focal onset 0.9649561952440546 2.2356348010517655 0.0253757030323056 1.0 0.2456642266308492 2 Q9NZJ7 1 |
| Abnormal retinal vascular morphology 0.4496987557047773 2.235058008422743 0.0254135406859499 1.0 0.2456642266308492 53 P00846,P38435,P21912,Q96S66,P21964,P03915,P07602,Q9NZJ7,Q13510,P17900,P03886 11 |
| Abnormal saccadic eye movements 0.5494645876495267 2.2342362045308053 0.0254675354298585 1.0 0.2456678891360252 26 Q8WWI5,P51798,O14773,P04062,Q8IV08,Q10713,O75306,O43819,O15020,P18887,Q9Y4W6 11 |
| Aplasia hypoplasia of the cerebral white matter 0.7428018923600223 2.2319530263234197 0.0256180676930335 1.0 0.2466008112804195 9 P03915,P03886,P00403 3 |
| 3 methylglutaconic aciduria 0.6546013849207539 2.221028549299268 0.0263490277819911 1.0 0.2490600496739395 14 Q96JX3,Q5XKP0,Q53H12,Q9BUB7,Q3ZCQ8,Q96DA6,Q9H6K4,Q9NVI7 8 |
| Hypoparathyroidism 0.6732790181209977 2.2200170621914475 0.026417609428849 1.0 0.2490600496739395 13 P03915,P03886,P21964,P00403 4 |
| Proximal tubulopathy 0.5474997245499249 2.2194090326386706 0.0264589097050964 1.0 0.2490600496739395 26 Q96CU9,Q9NPL8,Q9Y375,P00403,O96000,Q9Y6M9,P03915,O43676,Q9NX14,P03886,Q86Y39 11 |
| Abnormality of prothrombin 0.6151262617791844 2.218586491334426 0.0265148694126295 1.0 0.2490600496739395 16 Q5XKP0,P38435,Q9BV10,P40939,P49257,Q16836 6 |
| Global brain atrophy 0.5718283195687658 2.2168356811294987 0.0266343222767231 1.0 0.2490600496739395 22 Q9H3H5,O75306,O43819,Q9UHX1,P07602,P35637,Q9NZJ7 7 |
| Stroke like episode 0.7394585468580729 2.2152451252742265 0.0267432440941899 1.0 0.2490600496739395 9 Q96AA3,Q9H3H5,P03886,P00403 4 |
| Hyporeflexia 0.3746221225262734 2.213642203554866 0.0268534016879919 1.0 0.2495786745119255 127 O43505,Q9H3H5,O14979,Q16637,Q9BUK6,Q99720,Q15067,Q9HC21,O75648,Q8N2K0,P40939,P03886,Q5H8A4,P41440,P39210,P35610,Q9NR77,O15269,P12235,P29084,Q8TB36,Q9H5K3,Q9UBB4,P03915,O43681,Q9NZJ7,Q9NWS8,Q9H0B6,P00846,P04062,Q10713,P05023,P07602,P35637 34 |
| Abnormal corneal epithelium morphology 0.5928759441641513 2.2125656827472815 0.0269276031571177 1.0 0.2497616956799867 18 P39210,Q8NBM4,O75844,P29084,P51648,Q14739 6 |
| Retinal degeneration 0.4409506321110235 2.206252114010235 0.0273663522108476 1.0 0.2514439226397421 61 P50897,O75503,Q7Z4L5,O14773,P04062,O60313,Q96S66,P29084,Q10713,Q9UG56,P51648,O75648,Q13510,Q9NWW5,Q9H5K3,Q7LGA3 16 |
| Proximal muscle weakness 0.4346589356142333 2.2055438539984755 0.0274159540069474 1.0 0.2514439226397421 67 Q16637,Q13586,Q9H3H5,Q13126,P50402,Q9BUK6,Q99720,Q9BTV4,P07196,Q9BPX6,P13473,O60313,P12235,O75340,Q8TB36,P36551,Q5T8D3,Q9H5K3,Q9BQT8,Q8NI60,Q3ZAQ7,P00846,P21912,P51530,P35637,Q13510 26 |
| Kinetic tremor 0.4828592948319281 2.2052261631503245 0.0274382281361569 1.0 0.2514439226397421 35 P41440,Q9UBB4,P29084,Q9BUB7,O15020,O75027,O43681,P07602,Q14108,Q9NZJ7,Q8N2K0,Q9Y287,Q9Y4W6,Q9NQH7 14 |
| Dysdiadochokinesis 0.6122389012766914 2.200466597514224 0.0277738072999396 1.0 0.2532163151014349 16 P41440,O75503,Q6DKK2,Q9BUK6,Q9UBB4,O75027,O15020,Q9Y4W6 8 |
| Upper motor neuron dysfunction 0.3159118005537942 2.200133479957601 0.0277974261230951 1.0 0.2532163151014349 375 O43505,P07196,O15020,P03886,O75298,P50897,Q8WWI5,Q5XKP0,Q3ZCQ8,P56589,P17302,P51648,Q9Y276,Q9NZ08,Q9NZ01,Q9Y4W6,Q9H5K3,Q9H936,Q9UBX3,Q9NZJ7,Q15165,Q9H0B6,P00846,O14773,P21912,P04062,Q10713,P07602,Q13510,Q9H6K4,Q99720,O95298,Q7KZN9,Q9BRK0,Q96N66,Q96AA3,P40855,Q7RTS9,P00403,Q9P0J0,P17900,Q9H490,P03915,Q6DKK2,Q9Y320,Q9Y287,Q01105,P49902,Q8NBM4,Q9Y487,O43292,Q15392,Q15067,P40939,Q13423,Q15041,P41440,O75503,P51572,Q9NR77,O15118,Q8N0X7,Q96JX3,Q86XL3,O43681,Q15043,Q9NVI7,O75381,Q92804,Q96CU9,Q8N2K0,Q13144,Q8NBU5,P35610,O60313,P29084,P11117,Q9UBB4,Q8NI60,Q2TAA5,P51812,O75306,O43819,P35637,Q9Y4P3,P50416 86 |
| Episodic vomiting 0.7044144588283665 2.192595180219927 0.0283365586967754 1.0 0.257105172175495 11 P00846,P00403,P03915,P36551,Q2TAA5,P61978,P03886 7 |
| Disproportionate short limb short stature 0.5845215642297331 2.189467125306923 0.028562905442701 1.0 0.2586467050167115 19 Q7RTS9,Q9UBM7,Q8WVQ1,Q15392,Q9BV10,O15228,Q32P28,Q14739,O75718,Q7LGA3 10 |
| Orthostatic hypotension due to autonomic dysfunction 0.7335555670757667 2.185664807395945 0.028840137424597 1.0 0.2596178972092406 9 P04062,P07602,Q9NZJ7 3 |
| Ventricular hypertrophy 0.4739957153784473 2.182790427085271 0.0290512469738268 1.0 0.2604947429238254 38 P00403,P21912,O75844,Q9BV10,Q6NUK1,P12235,P03915,P23786,P40939,P03886 10 |
| Abnormality of the gallbladder 0.4738151894380807 2.181117139845456 0.0291747534146638 1.0 0.2610912502851358 38 P40855,Q9UBM7,O75845,P04062,Q96A33,P22830,P21964,O43681,P07602,O95202,Q9NZJ7,Q5H8A4 12 |
| Focal t2 hyperintense brainstem lesion 0.5773700461266014 2.1760698016402644 0.0295500415770098 1.0 0.2634207986495309 20 Q96CU9,Q9NPL8,Q9Y375,O96000,Q9Y6M9,O43676,Q9NX14,P03886,Q86Y39 9 |
| Abnormally lax or hyperextensible skin 0.4579253729334038 2.1734648121835707 0.0297453514108572 1.0 0.2641341088460228 44 P38435,Q9NWM8,Q9Y487,O96000,Q8NCH0,P04062,Q9BV10,P51812,Q9UHX1,Q9Y4P3,Q9NX14,Q6NUK1 12 |
| Mortality aging 0.3747405527551735 2.171684345164873 0.0298794801351245 1.0 0.2648119496695176 106 O75431,O96000,Q15904,Q9BUB7,Q15067,Q9HC21,Q14739,Q96IX5,P40855,Q9NPL8,Q9NXE4,O75844,P56589,Q9Y276,Q8TCJ2,P20674,O75718,Q9BT22,Q9NZJ7,Q9NVI7,Q6NUK1,Q9NWS8,O75381,P04062,P51812,O43819,P07602,Q9Y4P3,Q9NX14,P16435 30 |
| Visual impairment 0.3401841128976355 2.166187676128723 0.0302968484827157 1.0 0.2674762230208161 287 Q96CU9,Q8NBM4,O96000,O43292,Q8WWV3,Q9Y6M9,O43676,O75648,Q96N66,P40939,P03886,Q86Y39,Q7LGA3,P50897,Q96AA3,P40855,O75503,Q5XKP0,Q13144,Q9NPL8,P00403,Q96A33,O60313,Q6P4A7,P12235,O75340,Q96HR9,P17900,Q9NZ01,Q9H5K3,Q9H061,Q9Y375,Q9H490,P51798,Q96S66,Q9UHX1,P03915,O43681,Q15043,Q9NZJ7,P37268,O15460,P00846,O14773,O75381,P21912,P53701,Q10713,Q13432,O75306,O43819,P07602,Q9Y4P3,Q9H6K4,Q9NX14,Q9Y287,Q9NWW5,Q01105 58 |
| Chronic pulmonary obstruction 0.8491831891119375 2.157201754016052 0.0309899478707702 1.0 0.2709846205035673 6 P09601 1 |
| Central apnea 0.7411632031344776 2.1506844031790324 0.031501118248405 1.0 0.2729363115831084 8 Q10713,Q9NZJ7 2 |
| Involuntary movements 0.3273334457283945 2.150032600588646 0.0315526361632783 1.0 0.2729363115831084 336 Q9BUK6,P07196,O15020,O14949,P03886,O75298,P50897,Q8WWI5,Q5XKP0,Q9C0E8,Q3ZCQ8,Q86VD7,Q9NZ01,Q9Y4W6,Q9H5K3,Q9H936,Q9UBX3,O14653,P13073,Q9UHX1,Q9NZJ7,P00846,O14773,P21912,P04062,Q10713,P07602,Q13510,Q9H6K4,Q9H3H5,Q99720,Q9BRK0,Q96N66,Q96AA3,P00403,Q6P4A7,Q9P0J0,Q14108,P17900,O75845,P03915,Q6DKK2,P27544,Q969X5,Q9Y287,Q9NWW5,Q01105,O43292,Q96IX5,P41440,O75503,Q9NR77,P12235,Q5T8D3,Q8N0X7,Q9BQT8,O43681,Q15043,Q9NQH7,O96008,Q9NQZ5,Q96CU9,Q16637,Q10469,Q9BPX6,Q9BUB7,O95202,Q8N2K0,Q8NBU5,Q9NPL8,O60313,P29084,P51798,Q9UBB4,Q8NI60,Q9NWS8,O75306,O43819,P35637,Q9Y4P3 80 |
| Areflexia 0.3885530117613389 2.1461821417454567 0.0318584497863096 1.0 0.2729363115831084 95 O43505,Q9H3H5,Q13586,Q16637,Q96RL7,P07196,Q15067,P10253,P61978,P40939,Q15041,P41440,P39210,O60313,Q9NR77,O15269,P12235,O75340,P56589,Q8TB36,Q9H5K3,Q9BQT8,O14653,Q9BT22,P18887,Q9Y6B6,O95831,O96011,Q9NWS8,P05023,Q8NCE2,Q969X5,O43819,Q13510,Q9H6K4,P54098,Q00535 37 |
| Memory impairment 0.4622884509176263 2.139396024383143 0.0324036086534513 1.0 0.2745545974045285 41 Q9NZ08,O96008,P00403,Q8NBM4,P03915,O43681,P07602,Q9NZJ7,Q9BRK0,P03886,Q9Y4W6,Q13144 12 |
| Knee flexion contracture 0.5362811418382509 2.134271770494468 0.0328205406818198 1.0 0.2745545974045285 26 P49902,Q9H3H5,P21912,Q86XL3,Q969X5,O75340,P37268,Q7LGA3 8 |
| Disproportionate short stature 0.5529895596266401 2.126263012829319 0.0334813659450803 1.0 0.2769162793508268 23 Q7RTS9,Q9UBM7,Q15392,Q9BV10,Q9UHX1,O15228,Q32P28,Q14739,O75718,Q7LGA3 10 |
| Personality changes 0.5801544834295929 2.121796514153749 0.0338548295045282 1.0 0.2790348368230464 17 P04062,P03886,P03915,P00403 4 |
| Choreoathetosis 0.487046770031886 2.1217431570486815 0.0338593123687502 1.0 0.2790348368230464 33 P00846,Q5XKP0,Q86VD7,Q9H6K4 4 |
| Atlantoaxial instability 0.9377346683354189 2.1173719557148165 0.034228292377437 1.0 0.2810645800598865 2 Q7RTS9 1 |
| Undetectable electroretinogram 0.9243900532600215 2.1134538055820076 0.0345619448529663 1.0 0.2825472565328593 4 P50897,O14773 2 |
| Generalized onset seizure 0.3706604668505164 2.1126138823905167 0.0346338295341837 1.0 0.2825472565328593 104 Q9H3H5,O43292,Q96N66,P03886,O75503,Q9C0E8,P29084,Q14108,Q9NZ01,Q9Y4W6,Q9H936,O14653,Q9UBB4,P03915,P00367,Q9NZJ7,Q9NVI7,P00846,P21912,P04062,P51812,P05023,P07602,Q9Y320,Q13510,Q01105 26 |
| Abnormality of lysosomal metabolism 0.837010349078555 2.10406463094249 0.035372809592985 1.0 0.2867546790433563 6 P07602,Q13510,Q9NWW5,Q9NZJ7 4 |
| Tetraparesis 0.4673983273037328 2.101517549539097 0.0355955590932077 1.0 0.2867546790433563 37 Q7RTS9,Q9UBX3,P00846,P21912,P07602,Q9NZJ7 6 |
| Spastic tetraparesis 0.5380673251169197 2.1010793951016833 0.0356339973211934 1.0 0.2867546790433563 25 Q7RTS9,P00846,P21912,P07602,Q9NZJ7 5 |
| Bilateral sensorineural hearing impairment 0.511839084939092 2.1003706799595716 0.0356962461392895 1.0 0.2867546790433563 29 P00403,P29084,Q15067,P03915,O43681,P07602,Q9NZJ7,P03886 8 |
| Paroxysmal involuntary eye movements 0.5608878789424178 2.099387842972889 0.0357827254845355 1.0 0.2867546790433563 21 Q96CU9,Q9NPL8,Q9Y375,O96000,Q9Y6M9,O43676,Q9NX14,P03886,Q86Y39 9 |
| Abnormal gallbladder morphology 0.5044844997934825 2.0991356524860123 0.0358049443875989 1.0 0.2867546790433563 30 P40855,O75845,P04062,Q96A33,P22830,P21964,O43681,P07602,Q9NZJ7 9 |
| Concentric hypertrophic cardiomyopathy 0.9186109359157164 2.0900090484260265 0.0366169868950136 1.0 0.2917896242660047 4 P03886,P00403 2 |
| Widened cerebral subarachnoid space 0.8788930094868856 2.0821838194110645 0.0373256826496453 1.0 0.2948728929321979 5 P03915,P03886,P00403 3 |
| Young adult onset 0.665656660567509 2.077208325994549 0.0377823357505329 1.0 0.2962750472923125 12 P38435,Q9H0U3,O15118,P07602,Q9NZJ7,Q14566 6 |
| Abnormal reflex 0.3118009519502645 2.0752583109620697 0.0379626009570384 1.0 0.2963281730581771 371 O43505,O14979,Q9BUK6,P07196,O15020,O14949,P03886,O75298,Q8WWI5,Q5XKP0,Q3ZCQ8,P56589,P17302,Q9Y276,Q9NZ08,P20674,Q9Y4W6,Q9H5K3,Q9H936,Q86SQ9,O75208,O14653,P13073,O75027,Q9NZJ7,Q9H0B6,P00846,O14773,P21912,P04062,Q10713,P07602,Q13510,Q9H6K4,Q9H3H5,Q99720,Q7KZN9,Q9HC21,Q9BRK0,Q96N66,Q14739,Q5H8A4,Q96AA3,P40855,Q7RTS9,P39210,Q9P0J0,P17900,Q9BT22,P03915,Q6DKK2,Q969X5,Q9Y320,P49902,P50402,Q8NBM4,O43292,Q15067,P40939,Q15041,Q96IX5,P41440,O75503,Q9NR77,P12235,O75340,Q8N0X7,Q9BQT8,Q86XL3,O43681,Q15043,O75381,Q96CU9,Q16637,Q8TAA9,O75648,Q8N2K0,Q8NBU5,P35610,O60313,P29084,O15269,Q8TB36,Q96HR9,Q9UBB4,Q8NI60,Q2TAA5,Q9NWS8,P51812,P05023,O75306,O43819,P35637,Q9Y4P3,P50416 95 |
| Macrovesicular hepatic steatosis 0.7114726395614409 2.074087261511765 0.0380712074119271 1.0 0.2966705312269562 9 Q5JPH6,Q9Y375,P39210,O75431,Q5XKP0,P23786,O75648 7 |
| Atlantoaxial abnormality 0.8761851704851115 2.0707935492834664 0.0383780933263748 1.0 0.2975438639956847 5 Q8NCH0,Q7RTS9 2 |
| Neuronal loss in central nervous system 0.6278552111076963 2.0638401610616564 0.0390328738404521 1.0 0.2980810465615864 14 P04062,O43819,O15118,P07602,Q9NZJ7 5 |
| Abnormal lung lobation 0.6454417807750207 2.0619301238984695 0.0392143890709382 1.0 0.2989689363112128 13 Q9UHX1,P21964 2 |
| Dermal atrophy 0.5137594910041854 2.0604059919693225 0.0393597445585021 1.0 0.2995786537658748 28 Q9NWM8,Q8NCH0,P53701,Q15392,O75844 5 |
| Infantile axial hypotonia 0.6793598322959001 2.059007026077643 0.039493565420388 1.0 0.2996876416120848 11 P17900,P07602,Q9H3H5,Q9NZJ7 4 |
| Abnormality of skull ossification 0.644911278729304 2.058888983924158 0.0395048746254254 1.0 0.2996876416120848 13 O75718,Q14739,O75844,Q9HC21,Q6NUK1,Q32P28 6 |
| Abnormal involuntary eye movements 0.3327169987512066 2.05790061590051 0.0395996746174296 1.0 0.2999102629703514 299 P49902,Q96CU9,Q9H3H5,Q99720,Q7KZN9,O96000,P07196,O43292,Q15392,Q8WWV3,O15020,Q9Y6M9,Q15067,O95202,O43676,O75648,Q8N2K0,P03886,Q86Y39,O75352,Q5H8A4,Q7LGA3,P41440,P40855,O75503,Q9NPL8,Q5XKP0,P39210,Q8IV08,O60313,Q9NR77,P29084,P12235,Q9P0J0,O75340,P56589,P17302,Q96HR9,Q5T8D3,P17900,Q9Y4W6,Q9H061,Q86SQ9,Q9Y375,Q9H490,P51798,Q9BT22,Q9UBB4,O75027,P03915,Q9NZJ7,Q9NVI7,Q6NUK1,O15460,Q9H0B6,P00846,O14773,Q6DKK2,P21912,P04062,O75381,Q9UBM7,Q10713,Q53H12,O75306,O43819,P07602,P35637,Q9Y4P3,Q13510,Q9H6K4,Q9NX14 72 |
| Aphasia 0.4556673971825685 2.053105775988983 0.0400623199049186 1.0 0.3021457339581123 40 O96008,P00403,P53701,P21964,P03915,Q9NX14,P03886,Q7LGA3 8 |
| Mitochondrial inheritance 0.8245614035087755 2.0494065452037957 0.0404223777643655 1.0 0.3021457339581123 6 P00846,P00403,P03915,O75648,P03886 5 |
| Phenotypic variability 0.366177654435562 2.0458937557018566 0.0407668248394266 1.0 0.302479036803259 109 Q9H3H5,O14979,P07196,P03886,O95470,P00403,O60313,Q9NR77,Q6P4A7,P36551,Q9Y276,Q70HW3,P17900,Q9Y4W6,Q9H061,Q86SQ9,Q9Y375,Q96JX3,Q9UBB4,P03915,Q8NI60,Q9NZJ7,Q3ZAQ7,Q9NWS8,P00846,P21912,P07602,Q13510,Q53H12 29 |
| Capillary hemangioma 0.7705818808121357 2.0428678392844057 0.0410655227440699 1.0 0.302479036803259 7 Q7LGA3,P16435,Q10469,Q9UHX1 4 |
| Abnormal metabolism 0.4306251851233678 2.0394364553555495 0.0414064871509114 1.0 0.302479036803259 54 P41440,Q7Z2Z2,Q9H3H5,Q96AA3,Q8N511,Q9H0U3,Q9Y487,Q9BT22,Q15904,Q10469,P46977,O75340,P51571,Q2TAA5,O14678,Q8TCJ2 16 |
| Abnormal brainstem mri signal intensity 0.5396025588293045 2.028774257808017 0.0424812883945056 1.0 0.305962913380522 23 Q96CU9,Q9NPL8,Q9Y375,O96000,Q9Y6M9,O43676,Q9NX14,P03886,Q86Y39 9 |
| Segmental peripheral demyelination remyelination 0.7674565859097753 2.028241012507738 0.0425356560068512 1.0 0.305962913380522 7 P03915,P03886,P00846,Q9NR77 4 |
| Mitochondrial respiratory chain defects 0.7665627581854721 2.0240534834971227 0.042964649042517 1.0 0.3081086782718019 7 P00846,O75306,P03915,O75648,P03886 5 |
| Abnormal epiphyseal ossification 0.5637706358581411 2.018826250726231 0.0435052816249823 1.0 0.3083892038734376 18 P40855,Q7RTS9,O75381,Q9UBM7,P38435,Q9UG56,P08236,Q14739 8 |
| Abnormality of glycolipid metabolism 0.7650486235519642 2.016955507800531 0.0437001566025783 1.0 0.3083892038734376 7 P17900,P07602,Q9NZJ7 3 |
| Abnormal auditory evoked potentials 0.7649510770647172 2.016498041087604 0.0437479228541541 1.0 0.3083892038734376 7 P07602,O60313,Q9NZJ7 3 |
| Microcytic anemia 0.6995812769824916 2.0134045109398477 0.0440720914395018 1.0 0.3097213542573581 9 Q9BQT8,Q9UBX3,O75027,P22830,Q13546 5 |
| Stuttering 0.899199244183144 2.010869891339975 0.0443392013573089 1.0 0.3106235278583579 4 P03886,P00403 2 |
| Posterior polar cataract 0.9130162703379224 2.0090354401984327 0.0445333753884367 1.0 0.3106235278583579 2 Q9Y287 1 |
| High frequency sensorineural hearing impairment 0.8985859680858066 2.008359957697912 0.0446050547407825 1.0 0.3106235278583579 4 O75844,Q13510 2 |
| Varicose veins 0.8613926729629873 2.00833956872242 0.0446072198452203 1.0 0.3106235278583579 5 P04062 1 |
| Venous insufficiency 0.8613926729629873 2.00833956872242 0.0446072198452203 1.0 0.3106235278583579 5 P04062 1 |
| Unexplained fevers 0.860904623681422 2.0062724186662937 0.0448271910529181 1.0 0.3114869171881836 5 Q9NZJ7 1 |
| Abnormal circulating protein concentration 0.3489760295741223 2.005768544273261 0.0448809481990868 1.0 0.3114869171881836 156 O43505,P14174,O14979,Q9H3H5,Q13586,P50402,Q9BUK6,Q9BTV4,Q08J23,P07196,Q9Y5L0,Q9Y6N5,Q9Y487,Q9BV10,Q9BPX6,P10253,O75648,P40939,O95470,P41440,Q7Z2Z2,P46020,Q8N511,Q5XKP0,P39210,P13473,P12235,O75340,Q6ZXV5,P36551,Q9Y276,Q86VD7,Q16836,P22626,Q9H5K3,Q9NSD9,Q15056,Q12769,O14653,Q9NWM8,Q9BT22,Q658P3,P49748,Q9Y6B6,P23786,O95831,Q3ZAQ7,Q9UJS0,P15291,Q8NCE2,Q969X5,Q96BR5,P42167,P51530,Q9Y4P3,P50416,P54098 57 |
| Occipital meningocele 0.860641103709202 2.005156096149392 0.0449463620078143 1.0 0.3114869171881836 5 Q10713 1 |
| Spasticity 0.3279231701419766 2.0012964900913235 0.0453604477778928 1.0 0.3130144152384111 309 P49902,Q96CU9,O43505,Q99720,O95298,Q7KZN9,Q9Y487,O43292,Q15392,P07196,O15020,Q9BRK0,Q96N66,Q8N2K0,P03886,O75298,Q15041,Q13144,P50897,Q96AA3,P40855,Q7RTS9,Q5XKP0,O75503,Q8NBU5,P35610,O60313,P29084,P11117,Q9P0J0,O15118,Q3ZCQ8,P56589,P17302,P51648,Q9Y276,P17900,Q9NZ01,Q9Y4W6,Q8N0X7,Q9UBX3,Q9H936,Q9H490,Q96JX3,Q9UBB4,Q86XL3,P03915,O43681,Q15043,Q2TAA5,Q9NZJ7,Q9NVI7,Q15165,Q9H0B6,P00846,Q6DKK2,O75381,P21912,P04062,P51812,Q10713,O75306,O43819,P07602,Q9Y320,P35637,Q9Y4P3,Q13510,Q9H6K4,Q92804,Q9Y287,Q01105 72 |
| Retinal dystrophy 0.422167089504481 1.999022174469756 0.0456059546839076 1.0 0.3142353148295708 61 O43505,Q9H3H5,Q15067,Q8N2K0,P03886,P40855,P56589,Q96HR9,Q9Y276,Q5T8D3,Q9H5K3,Q86SQ9,P38435,P03915,P00846,O75381,P53701,Q10713,Q9NX14,Q9Y287 20 |
| Abnormal nervous system electrophysiology 0.3360925092344633 1.996382799438562 0.045892271612665 1.0 0.3147926371024888 187 Q9H3H5,Q99720,P07196,O43292,Q10469,Q15067,O95202,Q96N66,Q8N2K0,P03886,Q5H8A4,P50897,P40855,Q8WWI5,O75503,P39210,Q8NBU5,P00403,Q96A33,O60313,Q9NR77,O15269,Q3ZCQ8,O75340,P56589,Q8TB36,Q14108,Q9Y276,Q9NZ01,Q9Y4W6,Q9H936,Q9UBX3,Q9UBB4,P13073,P03915,O43681,P00367,Q2TAA5,Q9NZJ7,O75381,O14773,P21964,Q9NQZ5,P07602,Q9NWW5 45 |
| Increased serum lactate 0.3624716801288268 1.99637659303827 0.0458929466574558 1.0 0.3147926371024888 116 Q96CU9,O95298,Q7KZN9,Q9Y6M9,Q9BUB7,O14949,O75648,P03886,Q86Y39,Q5XKP0,P00403,P35610,Q6P4A7,Q3ZCQ8,Q9P0J0,P12235,Q9Y276,Q86VD7,Q70HW3,P20674,Q9UBX3,Q9Y375,Q96JX3,P13073,P03915,Q8NI60,Q9NVI7,Q9NWS8,P00846,P21912,O75306,O43819,Q53H12,O75880 34 |
| Fingerprint intracellular accumulation of autofluorescent lipopigment storage material 0.9098873591989984 1.9952606485124464 0.0460144594143521 1.0 0.3151543393670574 2 Q9NWW5 1 |
| Migraine 0.5116885141145693 1.9924641450874403 0.0463201554092027 1.0 0.3163024621236468 27 O96011,Q13586,P00403,Q9Y6N5,Q8NBM4,O00170,O60313,P12235,P03915,Q9NQZ5,Q9NZ08,P03886 12 |
| Abnormality of corneal stroma 0.6329660530182697 1.9901307621226645 0.0465765329060667 1.0 0.3171079848077236 13 P04062,O75845,Q13510 3 |
| Redundant skin 0.5111843514506076 1.9884851223811972 0.0467580628144645 1.0 0.317871578361835 27 P38435,Q8NCH0,Q9Y487,O96000,P51812,Q9BV10,Q9NX14,Q6NUK1 8 |
| Sensory neuropathy 0.45080896770808 1.985348809498386 0.0471056770994393 1.0 0.3197603147698238 39 Q9H0B6,P00846,P00403,Q8IV08,O60313,Q15067,P03915,P40939,P03886,Q15041 10 |
| Hypointensity of cerebral white matter on mri 0.7580209788393599 1.98393984839838 0.047262545970081 1.0 0.3203505704658453 7 Q9NZJ7 1 |
| Muscle spasm 0.4197473940297936 1.9812071619278415 0.0475680463942267 1.0 0.3214701896435795 62 Q16637,Q9H3H5,P00846,P04062,P07196,Q9NR77,P05023,P12235,O75340,P51530,P35637,P23786,Q92804,Q9H6K4,P40939,Q15165,Q5H8A4,O75298 18 |
| Retinal telangiectasia 0.8087429233778447 1.9794978781825543 0.0477599782997792 1.0 0.3222919301466697 6 P03915,P03886,P00846 3 |
| Ventricular arrhythmia 0.4450338183876764 1.972657955806851 0.0485345451769327 1.0 0.3260781319658446 41 P42892,P00846,P50402,Q9NX14,P00403,Q9BTV4,P13473,P21912,O75306,P12235,P03915,P36551,P10253,P23786,Q96DP5,P03886 16 |
| Raynaud phenomenon 0.8062171559565277 1.9682885639343295 0.0490348450303022 1.0 0.3284761110070829 6 O75844 1 |
| Spastic paraparesis 0.5416514730272075 1.9635387746950228 0.0495836036038859 1.0 0.3299192051716502 21 Q5XKP0,Q6DKK2,P21912,P04062,Q9H6K4 5 |
| Bilateral tonic clonic seizure 0.381848310813483 1.9626892780141283 0.0496822897355824 1.0 0.3299192051716502 91 P00846,Q14739,P04062,P00403,P27544,P03915,P07602,Q9Y320,Q9HC21,Q9NZJ7,Q13510,P03886,Q5H8A4,Q01105 14 |
| Urinary urgency 0.7027286142010596 1.959741216208125 0.0500260451066707 1.0 0.3315183285404391 8 P04062,O75298 2 |
| Increased c peptide level 0.901752190237797 1.9593842378504256 0.0500678051833225 1.0 0.3315183285404391 2 P40939 1 |
| Tremor 0.3334667765312555 1.9565408983625427 0.0504014694871535 1.0 0.3325328867859908 182 Q9H3H5,Q16637,Q9BUK6,Q99720,P07196,O43292,Q9BPX6,Q9BUB7,O15020,Q9BRK0,Q8N2K0,P03886,P41440,O75503,Q9C0E8,O60313,Q9NR77,P29084,Q6P4A7,P12235,Q14108,Q5T8D3,Q9Y4W6,Q9H936,Q86SQ9,P51798,O14653,Q9UBB4,P03915,O43681,Q8NI60,Q15043,Q9NZJ7,Q9NQH7,P00846,O14773,Q6DKK2,P21912,P04062,Q10713,O75306,Q9NQZ5,P07602,P35637,Q9Y4P3,Q13510,Q9H6K4,Q9Y287 48 |
| Myopathy 0.3600398300190402 1.9562415384901832 0.0504367073725782 1.0 0.3325328867859908 104 Q9H3H5,O14979,Q13586,Q13126,P50402,Q9BUK6,Q9BTV4,Q00325,P07196,Q9Y5L0,Q96RL7,O43676,O75648,P40939,P03886,Q86Y39,P00403,P13473,O60313,P12235,O75340,P22626,Q15056,Q9Y375,Q9P032,Q9NWM8,Q8NCH0,P03915,Q9Y6B6,P23786,Q3ZAQ7,Q9NWS8,P00846,P21912,P15291,O75306,Q8NCE2,Q969X5,P42167,P51530,Q9Y4P3,Q53H12,P54098,O76024 44 |
| Abnormality of retinal pigmentation 0.3954757096059011 1.9556082136645965 0.0505113245750872 1.0 0.3325328867859908 81 Q96CU9,Q9BUK6,Q7KZN9,Q15067,P40939,P03886,P40855,P00403,Q9P0J0,P56589,Q96HR9,P51648,Q16836,Q7Z4L5,Q96S66,Q9UG56,P03915,P00846,O75381,P21912,P53701,P51812,Q13432,O75306,Q9NX14 25 |
| Hypothermia 0.6432852134746869 1.9524904921869408 0.0508799986803893 1.0 0.3340002205638169 12 P00846,P03886,Q5XKP0 3 |
| Knee clonus 0.8998748435544559 1.951092568467728 0.0510460350974646 1.0 0.3345935732140148 2 O75298 1 |
| Peripheral axonal neuropathy 0.4143522232377477 1.950501001386579 0.051116434144437 1.0 0.3345935732140148 65 Q9H0B6,P39210,P00846,P00403,Q8IV08,O60313,Q9BPX6,P12235,Q15067,P03915,P07602,Q9HC21,Q9NZJ7,Q9NVI7,P03886 15 |
| Respiratory failure 0.4167386176222115 1.9473598178576272 0.0514916118724189 1.0 0.3365685671889064 62 Q8NBU5,Q16637,Q5XKP0,Q9NX14,Q9BT22,P53701,O75306,Q9BUB7,O43819,P07602,P23786,Q70HW3,Q9NZJ7,Q92804,P40939,Q13510,Q15165 17 |
| Centrocecal scotoma 0.846539304729079 1.9452409802800448 0.0517459817584695 1.0 0.3370091085086628 5 P03915,P03886,O60313,P00846 4 |
| Depression 0.3593923179705438 1.944761525173872 0.0518036867686366 1.0 0.3370091085086628 107 Q9BUK6,Q96N66,P03886,P50897,P00403,P12235,P36551,Q9Y276,Q9NZ01,Q9UBB4,P03915,O43681,Q9NZJ7,O15460,Q15165,Q6DKK2,P04062,P51812,P21964,P07602,P51530,P35637,Q9Y4P3,Q92804,Q9NWW5 25 |
| Decerebrate rigidity 0.8830639929622477 1.944639824105603 0.0518183427138527 1.0 0.3370091085086628 4 P07602,Q9NZJ7 2 |
| Punctate cataract 0.8820068482782146 1.940286647605782 0.0523448631853875 1.0 0.3370091085086628 4 Q8WWV3,Q9H6K4 2 |
| Underdeveloped supraorbital ridges 0.6239945609918391 1.938136206118252 0.0526066072420436 1.0 0.3380693890365276 13 P40855,O96011,P52732,O75381,Q08J23,P56589,Q6NUK1,P16435 8 |
| Abnormal pericardium morphology 0.6708740793693128 1.9367270573297712 0.05277871646911 1.0 0.3387003905622719 10 P14174,Q8NBM4,P04062,Q14108,Q9NZ08,O15460 6 |
| Peripheral axonal degeneration 0.3951226707178374 1.935666600126922 0.0529085476650514 1.0 0.3390586928689033 80 Q9BPX6,Q15067,Q9HC21,P03886,P41440,P39210,P00403,Q8IV08,O60313,O15269,P12235,Q9BQT8,P03915,Q9NZJ7,Q9NVI7,Q9H0B6,P00846,Q6DKK2,P07602 19 |
| Posterior embryotoxon 0.5424964806985142 1.9346176529424597 0.0530372321437777 1.0 0.3390804031368086 20 P40855,Q15056,O75381,P53701,P21964,P56589,Q9Y4P3,Q9NX14,Q7LGA3 9 |
| Photophobia 0.4360584979356949 1.93096053482484 0.053487933098419 1.0 0.3399191531996616 43 Q86SQ9,Q8NBM4,Q96S66,P29084,Q13432,Q8WWV3,P07602,Q96HR9,P51648,Q9NZJ7,Q9NZ08,P40939,Q9Y287,Q9Y4W6 14 |
| Retinal vascular tortuosity 0.5876974116900961 1.9288539847925712 0.0537489917153102 1.0 0.3406333057255207 15 P00846,O75306,P21964,P03915,P03886 5 |
| Abnormality of extrapyramidal motor function 0.3943014449928113 1.925308626675637 0.0541907590464196 1.0 0.3425520764012412 80 Q99720,Q9BPX6,O14949,Q96IX5,P35610,P12235,P17900,Q96JX3,Q9UBB4,Q15043,Q9NZJ7,P11802,Q9H0B6,Q6DKK2,O96008,P04062,P07602,P35637,Q9H6K4,Q9NWW5 20 |
| Contractures of the joints of the lower limbs 0.4207777034621845 1.9236124065965323 0.054403184772507 1.0 0.342967920513083 52 P49902,Q9H3H5,P50402,Q99720,P21912,Q86XL3,Q969X5,O75340,Q9HC21,P23786,Q8N2K0,P37268,Q7LGA3 13 |
| Abnormal lung development 0.4248942605457587 1.9233573084482125 0.0544351919451442 1.0 0.342967920513083 47 Q7Z4L5,Q9H3H5,O96000,O75844,Q6NUK1,Q9UHX1,P21964,Q8TAA9,Q14739,Q5H8A4 10 |
| External ophthalmoplegia 0.5305350439814008 1.921316576185524 0.0546918086189684 1.0 0.342967920513083 22 P21912,P00403,P12235,P03915,P51530,P03886 6 |
| Temperature instability 0.6950548789071013 1.9211231566887104 0.054716182866666 1.0 0.342967920513083 8 P07602,Q9HC21,Q9NZJ7 3 |
| Toe walking 0.5400585842622483 1.9174914366592355 0.0551755278498236 1.0 0.3430566860576609 20 P50402,Q9BTV4,Q99720,O43681,P07602,P35637,Q9NZJ7,O95831,P40939 9 |
| Limited extraocular movements 0.7438923237102 1.917210634634133 0.0552111775609303 1.0 0.3430566860576609 7 Q3ZAQ7,O75306,O43819 3 |
| Abnormality of the achilles tendon 0.653160399623907 1.9170905226254904 0.0552264324522084 1.0 0.3430566860576609 11 P50402,Q9BTV4,O60313,Q8N2K0,Q15041 5 |
| Decreased number of peripheral myelinated nerve fibers 0.5486315907322311 1.9163280469029855 0.055323353057346 1.0 0.3430566860576609 18 Q9H0B6,P39210,Q96RL7,P07196,Q9NR77,O15269,Q8TB36,P54098 8 |
| Episodic respiratory distress 0.8755510033668799 1.9136657404732091 0.0556628792139717 1.0 0.3433547392675283 4 P03886,P00846 2 |
| Juvenile onset 0.4389925447728127 1.9135876332777584 0.0556728664440375 1.0 0.3433547392675283 41 P41440,P39210,P50402,P51798,O14773,Q9H0U3,P07196,Q9NR77,P49770,O75027,O15118,Q13510,Q14566,Q13144 14 |
| Fasciculations 0.445052220234863 1.910626424151387 0.0560526061090018 1.0 0.3442492222790501 38 Q8NBU5,Q16637,Q9NWS8,Q9BQT8,O43819,Q969X5,P07602,P35637,Q9NZJ7,Q13510 10 |
| Multiple lipomas 0.7423887493004006 1.910081731648308 0.0561226907556635 1.0 0.3442492222790501 7 P03915,Q8TAA9,Q9BUK6 3 |
| Abnormal visual electrophysiology 0.4198257796130416 1.909243449043476 0.0562306936905112 1.0 0.344450586216474 51 P50897,O75503,Q9H936,Q86SQ9,P00846,P51798,O14773,O60313,Q96S66,P12235,Q15067,O43681,P07602,Q96HR9,Q9NZJ7,Q53H12,P40939 17 |
| Abnormal renal tubule morphology 0.5068830293302176 1.9072799767337183 0.056484341685832 1.0 0.3452061547075074 26 P00846,O75306,O43819,P03915,O95169,P23786,Q9Y276,Q9Y4P3,P03886,Q9NQH7 10 |
| Parkinsonism with favorable response to dopaminergic medication 0.6513223541649731 1.907049415153451 0.0565141887968172 1.0 0.3452061547075074 11 P04062,Q9NZJ7 2 |
| Fetal distress 0.4946468703476067 1.9065409562264797 0.0565800572207197 1.0 0.3452061547075074 28 Q96CU9,Q9NPL8,Q9Y375,Q9NX14,O96000,Q9Y6M9,O43676,Q9NVI7,P03886,Q86Y39 10 |
| Paraparesis 0.4813278456684398 1.9054784166707623 0.0567179104327086 1.0 0.345587055322701 30 Q8N0X7,Q5XKP0,Q6DKK2,P21912,P04062,P17302,P35637,Q13510,Q9H6K4 9 |
| Abnormal cns myelination 0.3492905244119828 1.898939724652632 0.0575724015137106 1.0 0.3481297199914367 143 Q96CU9,Q9H3H5,Q99720,Q7KZN9,O96000,Q9Y6M9,Q15067,O43676,P03886,Q86Y39,Q5H8A4,Q7LGA3,Q13144,P40855,Q9NPL8,P51572,P29084,Q9P0J0,O75340,Q8TB36,P51648,Q5T8D3,Q9Y375,Q9H490,O43681,Q9NZJ7,Q9NWS8,P21912,O75306,O43819,P07602,Q9NX14 32 |
| Progressive external ophthalmoplegia 0.5828654300747996 1.898638090522915 0.0576120766138883 1.0 0.3481297199914367 15 P00403,P12235,P03915,P51530,P03886 5 |
| Abnormality of lipoprotein cholesterol concentration 0.5827987441434554 1.898220377877201 0.0576670575018551 1.0 0.3481297199914367 15 P37268,Q15800,Q8N511 3 |
| Dyspnea 0.359858389294218 1.8976146916107317 0.0577468576485471 1.0 0.3481527654547934 101 Q10469,P51571,O75648,P03886,O75844,P12235,Q8TCJ2,Q9UHX1,P03915,P23786,Q9NZJ7,Q15165,P00846,P04062,P53701,O75306,O43819,Q969X5,P07602,P51530,Q13510,Q92804,Q9NX14 23 |
| Abnormal thoracic spine morphology 0.4869401746179836 1.8962594155215184 0.057925749997433 1.0 0.3486221547989627 29 Q7RTS9,O75845,P04062,Q10469,P29084,O75844,Q9UHX1,P51648 8 |
| Ovotestis 0.8826658322903745 1.874875512322257 0.0608098516168482 1.0 0.3618581040368814 2 P53701 1 |
| Joint hemorrhage 0.8820400500625849 1.872097064777806 0.0611931760181472 1.0 0.3623306669356017 2 P38435 1 |
| Urticaria 0.6449351384640206 1.8720707627532376 0.0611968142778851 1.0 0.3623306669356017 11 P51648 1 |
| Cardiac conduction abnormality 0.4585670076249409 1.8693873483520231 0.0615689434722255 1.0 0.363074516074308 33 Q9H490,P50402,P00846,P00403,P21912,O75306,O43819,P03915,O95169,P17302,P23786,Q8NC56,P03886 13 |
| Arthritis 0.4247654203292045 1.867107342993746 0.0618865992023067 1.0 0.3642329329809831 45 P14174,Q93063,P51798,Q8NBM4,P61619,P04062,Q8WVQ1,O00170,O75844,P21964,O15460,Q14108,Q13510,Q9NZ08,Q14739 15 |
| Abnormal left ventricle morphology 0.4641715251254877 1.866836897477739 0.0619243681344796 1.0 0.3642329329809831 32 P13807,O75431,O75208,P00403,P21912,Q6NUK1,P12235,P03915,O60566,P10253,O00170,P40939,P03886,P54098,O75880 15 |
| Supranuclear gaze palsy 0.5314861592899939 1.85701520329654 0.0633089911127005 1.0 0.3689456332933147 20 P04062,P07602,Q9NZJ7,Q99720 4 |
| Retinopathy 0.482077355514347 1.8558743163993627 0.0634714746074354 1.0 0.3689456332933147 29 P11802,Q9Y375,P52732,P00846,Q8NBM4,Q5JRA6,O75306,O43819,O95169,O95202,P51648,Q9NZ08,P40939,Q5H8A4 14 |
| Distal peripheral sensory neuropathy 0.7810183484395319 1.8557623205049685 0.0634874434589827 1.0 0.3689456332933147 6 P03915,P03886,P00403 3 |
| Biliary tract neoplasm 0.8606468012265925 1.851971308422903 0.0640299430471338 1.0 0.3689456332933147 4 P07602,Q9NZJ7 2 |
| Neoplasm of the gallbladder 0.8606468012265925 1.851971308422903 0.0640299430471338 1.0 0.3689456332933147 4 P07602,Q9NZJ7 2 |
| Abnormality of central nervous system electrophysiology 0.3427775296154126 1.851782228063317 0.0640571006482946 1.0 0.3689456332933147 151 Q9H3H5,P07196,O43292,Q10469,Q15067,O95202,Q96N66,P03886,Q5H8A4,P50897,P40855,Q8WWI5,O75503,Q8NBU5,P00403,Q96A33,O60313,Q3ZCQ8,O75340,P56589,Q14108,Q9Y276,Q9NZ01,Q9Y4W6,Q9H936,Q9UBX3,Q9UBB4,P13073,P03915,P00367,Q2TAA5,Q9NZJ7,O75381,P21964,Q9NQZ5,P07602 36 |
| Sclerocornea 0.6253019416963985 1.8509624131651397 0.0641749606579598 1.0 0.3689456332933147 12 P53701,O95202,Q9NX14,Q96J42,Q6NUK1,Q5H8A4 6 |
| Abnormality of femur morphology 0.401685241339979 1.8496527185968228 0.0643636192540004 1.0 0.3692677331868175 69 O75431,Q9Y487,Q10469,Q9BV10,Q14739,Q7LGA3,Q7Z2Z2,Q7RTS9,Q96A33,O75844,P29084,P17302,O75718,P51798,Q8WVQ1,Q9UHX1,Q9NZJ7,Q32P28,P04062,P51812,P07602,Q8NC56,P16435 23 |
| Abnormal factor ix activity 0.8764080100125242 1.8470700768023391 0.0647369846283392 1.0 0.3703181817316482 2 P38435 1 |
| Erlenmeyer flask deformity of the femurs 0.8591108328115082 1.845594918228557 0.0649510449368369 1.0 0.3706172950194105 4 P04062,P07602,Q9NZJ7 3 |
| Very long chain fatty acid accumulation 0.7285848593974251 1.8443884813280056 0.065126544787351 1.0 0.3711565027557741 7 P40855,O96011,O75381,P56589,Q5T8D3 5 |
| Generalized hyperkeratosis 0.8585960702300608 1.8434571847798984 0.0652622874327693 1.0 0.371468075797452 4 O75844 1 |
| Hyperreflexia in upper limbs 0.6791095489964458 1.8403592977494352 0.065715504947168 1.0 0.3735836770073498 8 O75298 1 |
| Hypertonia 0.3011558259271876 1.8310192854623613 0.0670976645991028 1.0 0.3787886017073717 376 O43505,P07196,O15020,P03886,O75352,O75298,P50897,Q5XKP0,Q9NXE4,Q9C0E8,Q3ZCQ8,P56589,P17302,P51648,Q9Y276,Q9NZ01,Q9Y4W6,Q9H936,Q9UBX3,Q86SQ9,Q9NZJ7,Q15165,Q9H0B6,P00846,P21912,P04062,Q10713,P07602,Q13510,Q9H6K4,Q9H3H5,Q99720,O95298,Q7KZN9,Q9HC21,Q9BRK0,Q96N66,Q14739,Q7LGA3,Q96AA3,P40855,Q7RTS9,Q9P0J0,P17900,Q9H490,P03915,Q6DKK2,Q9Y320,Q9Y287,Q01105,P49902,Q9Y487,O43292,Q15392,Q15067,Q15041,O75503,P12235,O15118,Q8N0X7,Q96JX3,Q86XL3,O43681,Q15043,Q9NVI7,O75381,O96008,Q92804,Q96CU9,Q10469,Q9BPX6,Q8N2K0,Q13144,Q8NBU5,P35610,O60313,P29084,P11117,Q9UBB4,Q2TAA5,Q9UBM7,P51812,O75306,O43819,P35637,Q9Y4P3 86 |
| Abnormal abdomen morphology 0.3291931711292351 1.829810202556713 0.0672783246593093 1.0 0.3787886017073717 223 Q96CU9,P14174,Q9H3H5,O75431,Q8NBM4,O96000,Q15904,Q15392,Q9Y6M9,Q15067,Q9BUB7,Q9HC21,O43676,O75648,P40939,P03886,Q86Y39,Q14739,Q96AA3,Q7Z2Z2,P40855,Q9NPL8,P39210,P09601,P35610,Q96A33,O15118,O75340,P56589,P36551,Q14108,Q9NZ08,P20674,Q9NSD9,Q86SQ9,Q9Y375,O75845,P51798,Q658P3,Q9BT22,P03915,P23786,Q9NZJ7,Q9NVI7,P23458,P31751,Q9NWS8,P00846,O75381,Q9UGP8,P04062,P10619,Q9H0U3,Q10713,O75306,P21964,P07602,P08236,Q13510,Q9NX14,P50416,Q01844,O75880 63 |
| Leukodystrophy 0.4069425733149049 1.8278392050937295 0.0675736873757109 1.0 0.3792233296025154 61 Q96CU9,Q9NPL8,Q9Y375,P21912,Q7KZN9,O96000,O75306,Q9Y6M9,Q15067,Q9P0J0,O43681,P07602,O43676,Q9NZJ7,Q9NX14,P03886,Q86Y39 17 |
| Achilles tendon contracture 0.6628396558173115 1.8232826342285635 0.0682605950860577 1.0 0.3792233296025154 9 Q8N2K0,O60313,P50402,Q9BTV4 4 |
| Cutis laxa 0.453316284968483 1.822126696126852 0.0684357638949091 1.0 0.3792233296025154 33 P38435,Q8NCH0,Q9Y487,O96000,P51812,Q9BV10,Q9Y4P3,Q9NX14,Q6NUK1 9 |
| Left ventricular hypertrophy 0.4836065742099962 1.8165056141158216 0.0692928475307652 1.0 0.3819102791013522 28 P13807,O75431,O75208,P00403,P21912,Q6NUK1,P12235,P03915,P10253,O00170,P40939,P03886,P54098,O75880 14 |
| Male pseudohermaphroditism 0.7718999130007691 1.8147385075932263 0.0695641043290005 1.0 0.3821855228243169 6 Q96J42,P53701 2 |
| Aortic valve stenosis 0.6735076491060406 1.8118209434467056 0.0700138679365058 1.0 0.3839141702332473 8 O75844 1 |
| Cerebral dysmyelination 0.6734665029302614 1.8116110149295408 0.0700463217623297 1.0 0.3839141702332473 8 P07602,Q9NZJ7 2 |
| Abnormality of fontanelles 0.4217123424442405 1.810564612066125 0.0702082742383705 1.0 0.3843420699644129 44 P40855,O75381,Q08J23,Q9Y487,Q9BT22,Q8NCH0,O75844,Q6NUK1,P51812,P56589,P17302,O15228,Q32P28,P20674,P16435,O75718 16 |
| Pendular nystagmus 0.7210347622859189 1.8082726335123969 0.0705640789400816 1.0 0.3853690222925556 7 P00846 1 |
| Urinary bladder sphincter dysfunction 0.6465717655887895 1.8069627637661805 0.070768085248732 1.0 0.385495887461506 10 O75298,Q9BRK0 2 |
| Abnormal ldl cholesterol concentration 0.5838426011667126 1.798890444777862 0.0720360123810324 1.0 0.3884697930911278 14 P37268,Q15800,Q8N511 3 |
| Coronal craniosynostosis 0.7188493356321208 1.79779462090691 0.0722095600966121 1.0 0.3884697930911278 7 Q6NUK1,P16435,Q9NX62 3 |
| Impaired visuospatial constructive cognition 0.6575212113000651 1.7954384684234264 0.0725838680720956 1.0 0.3892779430226689 9 P03886,Q10713,P00403 3 |
| Hypertrophic nerve changes 0.8642052565707123 1.7927202439081666 0.0730176678804988 1.0 0.3904003520582544 2 Q9NR77 1 |
| Abnormality of krebs cycle metabolism 0.766986861067286 1.7925691439511315 0.0730418439368174 1.0 0.3904003520582544 6 P03886,P00846 2 |
| Corneal erosion 0.8108190106132998 1.7919614087372484 0.0731391479812186 1.0 0.3904003520582544 5 P51648 1 |
| Hypoglycemic seizures 0.7654862628368094 1.785788888231825 0.0741334465522314 1.0 0.3926930082107795 6 P00367,P40939,Q13423,Q16836 4 |
| Airway obstruction 0.5814598211728618 1.7843261115283762 0.074370689678251 1.0 0.3933704929659722 14 P09601,O75844,P21964 3 |
| Hyperventilation 0.808841413091074 1.7834142369083044 0.0745188974016726 1.0 0.3933704929659722 5 P03886,P00846 2 |
| Abnormality of the vasculature of the eye 0.3879516055204214 1.7828267513182032 0.0746145096611134 1.0 0.3934219600313257 76 P03886,P00846,P38435,P21912,P10619,Q96S66,P21964,P03915,P07602,Q9NZJ7,Q13510,P17900,Q14739 13 |
| Visual field defect 0.4078333024191296 1.772166658741154 0.0763668963960635 1.0 0.4005497749635246 48 Q9H061,P40855,O75381,P00846,P00403,Q9Y287,O60313,O75306,Q8WWV3,P03915,O15460,P56589,Q8TC12,Q9H6K4,P03886 15 |
| Weakness of muscles of respiration 0.4341458562025421 1.7717246358194103 0.0764402781056372 1.0 0.4005497749635246 36 Q7RTS9,P50402,Q9BTV4,Q9Y5L0,P12235,Q15067,Q8NCE2,Q969X5,P36551,P10253,Q13510,O95831,P54098,P22626,Q9H5K3 15 |
| Arteriosclerosis 0.5451045998700892 1.7681587453113157 0.0770343688505068 1.0 0.4018739817691392 16 Q13510,O75844,O75845,P38435 4 |
| Polar cataract 0.8404350901329056 1.767798771328847 0.0770945504092259 1.0 0.4018739817691392 4 Q9Y287,Q7LGA3 2 |
| Orthostatic hypotension 0.5618653288060691 1.7661556158809042 0.0773697449890784 1.0 0.4028501949317698 15 P04062,P07602,Q9NZJ7 3 |
| Abnormal cornea morphology 0.3308611434517157 1.7632127833557232 0.0778646085492147 1.0 0.4045075242318615 163 O43505,Q9H3H5,Q8NBM4,O95202,O75648,Q14739,Q06136,Q5H8A4,Q7LGA3,P40855,P39210,O75844,P29084,P12235,P56589,P17302,Q96HR9,P51648,Q9NZ08,Q9H5K3,O75845,Q9NWM8,Q8NCH0,Q2TAA5,Q9NVI7,Q6NUK1,O75381,Q9UBM7,P04062,P53701,P10619,Q53H12,P21964,P08236,Q9Y4P3,Q13510,Q9NX14,Q96J42 38 |
| Abnormal full field electroretinogram 0.6635336150646148 1.760800784014012 0.0782721271140771 1.0 0.405704622665952 8 P50897,P00846 2 |
| Abnormal light and dark adapted electroretinogram 0.6635336150646148 1.760800784014012 0.0782721271140771 1.0 0.405704622665952 8 P50897,P00846 2 |
| Pigmentary retinopathy 0.405886073555263 1.7590808356316805 0.0785637795011615 1.0 0.4062273288603352 51 P00846,P00403,P21912,Q7KZN9,P53701,Q96S66,Q15067,Q9P0J0,P03915,Q9UG56,Q9NX14,P40939,P03886,Q16836 14 |
| Saccadic smooth pursuit 0.8382436027254587 1.7586384146405811 0.0786389438452896 1.0 0.4062273288603352 4 O14773 1 |
| Focal segmental glomerulosclerosis 0.4981223669295452 1.7562957503786036 0.0790379225269686 1.0 0.4066294782304713 24 Q12769,P00403,P61619,P03915,Q14108,P03886,O95470 7 |
| Scaphocephaly 0.837626441236131 1.7560575355699517 0.0790785849043222 1.0 0.4066294782304713 4 P40855 1 |
| Variable expressivity 0.3760515610817392 1.7533355461297453 0.0795444274152914 1.0 0.4066294782304713 84 Q9H3H5,P07196,P03886,O95470,P00403,Q9NR77,Q6P4A7,Q9Y276,Q70HW3,P17900,Q9Y4W6,Q9H061,Q86SQ9,Q9Y375,Q96JX3,P03915,Q8NI60,Q9NZJ7,Q9NWS8,P07602,Q13510,Q53H12 22 |
| Multiple glomerular cysts 0.9355242566510124 1.7514380822110869 0.0798704780461423 1.0 0.4066294782304713 3 P03886,P00846 2 |
| Vascular tortuosity 0.9355242566510124 1.7514380822110869 0.0798704780461423 1.0 0.4066294782304713 3 P03886,P00846 2 |
| Low plasma citrulline 0.9355242566510124 1.7514380822110869 0.0798704780461423 1.0 0.4066294782304713 3 P03886,P00846 2 |
| Leber optic atrophy 0.9355242566510124 1.7514380822110869 0.0798704780461423 1.0 0.4066294782304713 3 P03886,P00846 2 |
| Retinal arterial tortuosity 0.9355242566510124 1.7514380822110869 0.0798704780461423 1.0 0.4066294782304713 3 P03886,P00846 2 |
| Nasogastric tube feeding in infancy 0.6359631515382091 1.749755847514472 0.0801604523724699 1.0 0.4076528221649914 10 P07602,Q9NZJ7,Q9UHX1 3 |
| Abnormality of coagulation 0.3958113382696966 1.745978369957366 0.0808147104628478 1.0 0.4100697711414936 66 Q9H3H5,Q9Y487,Q10469,Q9BV10,P51571,O75648,P40939,O75352,Q4KMQ2,Q96AA3,P40855,Q7Z2Z2,Q5XKP0,O75340,P56589,Q16836,Q96JX3,P38435,O75381,P15291,P49257 21 |
| Rhizomelia 0.6061090720190923 1.7413746647058483 0.0816179261651048 1.0 0.4115541080946224 12 Q7RTS9,Q9UBM7,Q15392,Q9BV10,O15228,Q14739 6 |
| Chronic fatigue 0.70604960795972 1.7362130899902362 0.0825261635748446 1.0 0.4138071245308124 7 P07602,Q9NZJ7 2 |
| Encephalopathy 0.3456549331228786 1.736108354730005 0.0825446773944047 1.0 0.4138071245308124 109 Q96CU9,Q9H3H5,Q9Y6N5,Q7KZN9,O96000,Q9Y6M9,Q15067,Q9BUB7,O43676,P40939,P03886,Q86Y39,Q8NBU5,Q9NPL8,P00403,Q3ZCQ8,Q9Y276,Q16836,Q9H936,Q86SQ9,Q9Y375,Q96JX3,P03915,P23786,Q9NZJ7,Q9NVI7,P04062,O75306,P07602,Q9NX14,P50416 31 |
| Recurrent pancreatitis 0.831980549468594 1.7324238213905467 0.083198129675347 1.0 0.4157648738634198 4 P03886,P00403 2 |
| Abnormality of the intrinsic pathway 0.5729891971431879 1.7323716177720048 0.0832074180123867 1.0 0.4157648738634198 14 Q9H3H5,P38435,Q9Y487,Q9BV10,P49257 5 |
| Progressive visual loss 0.4846033757060992 1.731521175222611 0.0833588514855974 1.0 0.4160678186350842 26 P50897,O75503,P00846,O14773,O60313,P03915,P03886,Q9NWW5 8 |
| Hyperkeratosis 0.4006771040977854 1.72897472451882 0.0838136188448013 1.0 0.4173413592416603 57 O75431,P21912,Q9NWM8,P04062,Q06136,O75844,O15269,P42167,P51648,O75352,P98194,P16615 12 |
| Generalized clonic seizure 0.7955379148288733 1.7257576105801269 0.0843910288001419 1.0 0.4193922928007053 5 Q9NZJ7 1 |
| Barrel shaped chest 0.7951099982484011 1.723898530132579 0.0847261627348592 1.0 0.4206016009221289 5 Q7RTS9,Q14739 2 |
| Agenesis of corpus callosum 0.3761624917494978 1.7231514634214713 0.0848611383282549 1.0 0.4208157314069957 82 Q7LGA3,P00403,P53701,Q10713,Q15392,Q86XL3,Q9UHX1,P03915,O95202,Q9HC21,P23786,Q9NX14,P03886,Q5H8A4,Q9H5K3 15 |
| Epiphyseal stippling 0.5871755895360776 1.721618998714015 0.0851385592805034 1.0 0.4215152379025115 13 P40855,O96011,O75381,Q9UBM7,P38435,P56589,P08236,Q14739,Q15738 9 |
| Paraplegia paraparesis 0.3710897505937519 1.7213563091789883 0.0851861873194512 1.0 0.4215152379025115 86 P49902,Q96CU9,Q7KZN9,Q9BRK0,Q15041,O75298,Q5XKP0,O60313,P29084,Q9P0J0,P56589,P17302,Q8N0X7,Q9H0B6,P00846,Q6DKK2,P21912,P04062,O75306,P35637,Q13510,Q9H6K4 22 |
| Abnormality of circulating enzyme level 0.3443204969944438 1.720506600497258 0.0853403949174542 1.0 0.4216663875440283 104 O43505,Q9H3H5,O14979,Q13586,P50402,Q9BUK6,Q9BTV4,Q08J23,P07196,Q9Y6N5,Q9BPX6,P10253,O75648,P40939,P46020,P39210,P13473,P12235,O75340,Q6ZXV5,Q86VD7,Q16836,P22626,Q9H5K3,Q15056,O14653,Q9NWM8,P49748,P23786,O95831,Q3ZAQ7,P15291,Q8NCE2,Q969X5,Q96BR5,P42167,P51530,Q9Y4P3,P50416,P54098 40 |
| Abnormal circulating citrulline concentration 0.7940200948087914 1.7191622043629116 0.0855848407717037 1.0 0.4216663875440283 5 P03886,P00846 2 |
| Babinski sign 0.3609576310367678 1.7180775167360007 0.0857824771667181 1.0 0.4217350053489356 93 P49902,Q99720,P07196,Q15067,Q9BRK0,Q8N2K0,P40939,O75298,P41440,Q8WWI5,O60313,Q9NR77,Q9Y4W6,Q8N0X7,Q9UBB4,O43681,Q15043,Q9NZJ7,P00846,O14773,Q6DKK2,P21912,P51812,P07602,P35637,Q9H6K4 26 |
| Neoplasm of fatty tissue 0.6301147133162153 1.7180754649035737 0.0857828513717171 1.0 0.4217350053489356 10 P03915,Q8TAA9,P21912,Q9BUK6 4 |
| Lactic acidosis 0.3576346183934774 1.71517537170914 0.086313078822906 1.0 0.4223074657750636 95 Q96CU9,Q9Y6N5,O96000,Q9Y6M9,Q9BUB7,Q9HC21,O43676,O75648,P40939,P03886,Q86Y39,Q9NPL8,Q5XKP0,P39210,P00403,Q6P4A7,P12235,Q86VD7,Q70HW3,Q16836,Q9Y375,Q96JX3,P03915,Q8NI60,Q9NWS8,Q10713,O75306,O43819,Q9NX14 29 |
| Increased intracranial pressure 0.5191844960826935 1.713609074244353 0.086600545891299 1.0 0.4223074657750636 18 P07602,Q9NZJ7,P21912 3 |
| Abnormal epidermal morphology 0.5195472598371825 1.7128172349702977 0.0867461683649386 1.0 0.4223920759278946 17 Q06136,O75844,P17302,O75352,P98194,P16615 6 |
| Tetraplegia tetraparesis 0.4021327290894786 1.7110498874314175 0.0870719038888112 1.0 0.4235280930133048 48 Q7RTS9,Q9UBX3,P00846,P21912,P51572,P07602,Q9NZJ7,P17900,Q13423 9 |
| Developmental regression 0.3414871767398084 1.7102364093547158 0.08722216547555 1.0 0.4238090797550057 132 Q8NBM4,O95298,Q15067,Q9H9P8,P55795,P03886,O95470,Q96IX5,Q13144,P40855,O75503,P56589,Q86VD7,Q9NZ08,P17900,Q9H936,Q86SQ9,Q15056,Q96JX3,P13073,P03915,O43681,Q8NI60,Q15043,Q9NZJ7,O95831,Q5JPH6,O96011,P00846,O14773,O75381,P21912,P49770,O75306,O95169,P07602,O43819,Q96DA6,Q9Y4P3,Q13510,Q08209,P54098,O76024 43 |
| Clonic seizure 0.7485810044267007 1.7091181411657017 0.0874290678503242 1.0 0.4243643950107899 6 Q9NZJ7 1 |
| Thoracic kyphosis 0.5181256393595869 1.7062387238985115 0.0879636416053251 1.0 0.4260564543716698 18 Q7RTS9,P04062,Q10469,P29084,Q9UHX1,P51648 6 |
| Upper limb spasticity 0.6993177008207293 1.7036810910953697 0.0884406826083572 1.0 0.4264533084365883 7 Q8N0X7,Q99720 2 |
| Axial dystonia 0.844180225281618 1.7031929076257664 0.088531973512659 1.0 0.4264533084365883 2 Q99720 1 |
| Type i transferrin isoform profile 0.6273363866666641 1.7029904955077206 0.0885698470932134 1.0 0.4264533084365883 10 Q9H3H5,Q9H0U3,Q9BT22,O75340,P51571 5 |
| Meningocele 0.6270606356928555 1.701492077653485 0.0888506242146889 1.0 0.4264533084365883 10 Q10713,O75845,P21964 3 |
| Absent septum pellucidum 0.4397837156313263 1.699284656268092 0.089265562189776 1.0 0.4265013617868129 33 Q9NX14,P53701,Q15392,O95202,P51571,Q96N66,Q9NZ01,Q9H5K3 8 |
| Furrowed tongue 0.7452392872947449 1.693901389151142 0.0902840229550063 1.0 0.4304697119457223 6 P21912 1 |
| Profound global developmental delay 0.5666196523079544 1.6931217372594185 0.0904322974889773 1.0 0.4307284689131954 14 P40855,Q9H490,O75381,O60313,P37268 5 |
| Elevated serum acid phosphatase 0.8219600085756553 1.6903762381751517 0.0909559980468945 1.0 0.4318760446123015 4 P07602,Q9NZJ7 2 |
| Abnormal peripheral nervous system morphology 0.3248466734850693 1.689057141394832 0.0912084800723891 1.0 0.4319944691930508 166 Q9H3H5,Q16637,Q99720,Q9BV10,Q9BPX6,Q15067,Q9HC21,Q8N2K0,P03886,P41440,P40855,P39210,P00403,Q8IV08,O60313,Q9NR77,O15269,P12235,O75340,Q8TB36,Q9BQT8,P51798,Q9UBB4,Q9UHX1,P03915,O43681,Q15043,Q9NZJ7,Q9NVI7,Q9H0B6,P00846,Q6DKK2,O75381,P21912,P51812,O43819,P07602,P51530,Q13510 39 |
| Abnormal size of the clitoris 0.5331162459062375 1.6887686108830988 0.0912637813572398 1.0 0.4319944691930508 16 P40855,O96011,O75381,Q9UBM7,P53701,Q96GM8,P56589,Q9NX14,P16435 9 |
| Proportionate short stature 0.4325329843081272 1.685150714664843 0.0919594971149548 1.0 0.4333214674017674 34 Q7RTS9,P21912,P10619,P53701,Q15392,P40939,Q14739,Q16836 8 |
| Cerebral inclusion bodies 0.5809773074919544 1.6846852174617273 0.0920493200618601 1.0 0.4333214674017674 13 P04062,O15118,Q9Y287 3 |
| Abnormal circulating long chain fatty acid concentration 0.7427944862155437 1.6827563680390538 0.0924222647158483 1.0 0.4343372481312997 6 P40855,O96011,O75381,P56589,P23786 5 |
| Aortic valve calcification 0.9161684269257008 1.6740295556159133 0.0941247908680971 1.0 0.4384994226590937 3 O75844 1 |
| Abnormality of the larynx 0.4011411344912441 1.6728498901359958 0.094356850572326 1.0 0.4384994226590937 47 Q9UBM7,Q9UHX1,P21964,P07602,P35637,P16435,Q9NZJ7,Q92804,Q13510,Q14739,Q15165 11 |
| Functional abnormality of the inner ear 0.3198917509797495 1.6723309120297385 0.09445908730579 1.0 0.4384994226590937 262 Q96CU9,Q8NBM4,P07196,O96000,Q15904,Q9BV10,Q10469,Q9Y6M9,Q15067,O95202,O43676,Q8N2K0,P03886,Q86Y39,O95470,Q7LGA3,Q96AA3,P40855,P41440,Q9NPL8,Q5XKP0,P00403,P55263,P51572,O60313,O75844,Q9NR77,O15269,P12235,P29084,P56589,P17302,Q96HR9,Q9Y276,Q9NZ08,Q9H5K3,Q9H061,Q86SQ9,Q9Y375,Q96JX3,Q9NWM8,Q9UG56,P03915,O43681,Q15043,Q2TAA5,Q9NZJ7,O15460,Q9H1P3,Q9NQH7,P42892,P00846,O75381,Q9UBM7,P21912,P04062,P51812,O75306,P07602,P42167,P35637,Q9Y4P3,Q13510,Q9NX14,Q9NR28 65 |
| Leukoencephalopathy 0.353008020711677 1.6718189719128498 0.0945600245541291 1.0 0.4384994226590937 96 Q96CU9,O95298,O96000,Q9Y6M9,Q9BUB7,O95202,P51571,O43676,O75648,P03886,Q86Y39,Q13144,O75503,Q9NPL8,O60313,P29084,P17900,Q9UHX1,O43681,Q9NZJ7,P07602,Q9NX14,Q9NWW5,Q01105 24 |
| Peripheral hypermyelination 0.8369837296620795 1.6709277779948757 0.0947359440133206 1.0 0.4384994226590937 2 Q9NR77 1 |
| Neurofibrillary tangles 0.8171383174515758 1.6700989063216811 0.094899796513092 1.0 0.4384994226590937 4 O15118,Q9Y287 2 |
| Cutaneous photosensitivity 0.496256806700124 1.6685901777138363 0.0951986268001454 1.0 0.4384994226590937 22 P14324,Q9UBM7,P29084,P22830,P17302,P36551,Q14108,P37268,Q06136 9 |
| Abnormality of the 5th toe 0.6456190129773793 1.6685067691468198 0.095215169297548 1.0 0.4384994226590937 8 Q7Z4L5,Q14739,Q10713,Q96J42 4 |
| Postaxial foot polydactyly 0.6456190129773793 1.6685067691468198 0.095215169297548 1.0 0.4384994226590937 8 Q7Z4L5,Q14739,Q10713,Q96J42 4 |
| Abnormal circulating copper concentration 0.7817566648993818 1.6657484633496211 0.0957635248503985 1.0 0.440550673558761 5 Q9Y487,O43819 2 |
| Decreased absent ankle reflexes 0.5122244713496907 1.6621662804633068 0.0964794389331806 1.0 0.4429546985890119 17 Q96RL7,P07196,O60313,P12235,Q9H6K4,P54098,Q15041,Q9Y223 8 |
| Calcinosis 0.7800513146274021 1.658303486441229 0.0972562256723543 1.0 0.4453357795232608 5 O75844 1 |
| Abnormal circulating non proteinogenic amino acid concentration 0.6893683363716886 1.6554242082471895 0.0978384787884241 1.0 0.4453357795232608 7 P03886,P00846 2 |
| Abnormal liver physiology 0.736457206763974 1.6538186339712346 0.0981643686858344 1.0 0.4453357795232608 6 Q13510 1 |
| Recurrent paroxysmal headache 0.5907397970169495 1.6527275882328898 0.0983863170257381 1.0 0.4455323232259424 12 P03886,P21912,P00403 3 |
| Degeneration of the lateral corticospinal tracts 0.7357470914892349 1.6505717726149451 0.0988260466538528 1.0 0.4455323232259424 6 O75298 1 |
| Severe global developmental delay 0.3830116023495704 1.6500803384338147 0.0989265055485923 1.0 0.4455323232259424 71 P40855,Q7RTS9,Q9H490,O75381,P00846,Q9BT22,Q96A33,Q9BV10,Q15067,O75340,P03915,Q9HC21,P03886,Q5H8A4,Q7LGA3 15 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.91017214397496 1.649984175686828 0.0989461726539353 1.0 0.4455323232259424 3 Q9NWW5,O14773 2 |
| Decreased ldl cholesterol concentration 0.8115194892413287 1.6464337880019588 0.0996744815081605 1.0 0.4477534061474426 4 Q15800 1 |
| Dysarthria 0.321770281789382 1.6444682366015624 0.1000795201607749 1.0 0.4482621346314492 167 Q96CU9,Q7KZN9,P07196,O43292,O15020,Q8N2K0,Q13144,P41440,O75503,Q8WWI5,Q5XKP0,Q8IV08,P29084,P12235,Q9P0J0,O15118,P17302,Q14108,P51648,Q5T8D3,Q9Y4W6,Q8N0X7,P15586,O14653,Q9UBB4,O75027,P18887,O43681,Q9NZJ7,Q9H0B6,P00846,O14773,Q6DKK2,P04062,Q10713,P49770,O75306,O43819,P07602,P35637,Q9Y4P3,Q9H6K4 42 |
| Dysmetria 0.3918940407928891 1.6419437494041311 0.1006016620461693 1.0 0.4495049463957172 59 Q9BUK6,O43292,O15020,Q8N2K0,P41440,O75503,Q9NPL8,Q9C0E8,Q8IV08,O60313,Q6P4A7,Q5T8D3,Q9Y4W6,Q8N0X7,Q9UBB4,O75027,P18887,Q6DKK2,O14773,Q10713,Q9Y4P3 21 |
| Abnormality of the clitoris 0.5052280594313429 1.6411646733961236 0.1007632366837487 1.0 0.4495049463957172 19 P40855,O96011,O75381,Q9UBM7,P53701,Q96GM8,P56589,Q9NX14,P16435 9 |
| Death in infancy 0.3890828187377744 1.6390451326934412 0.1012038605549314 1.0 0.4505653340497962 63 P40855,Q9NWS8,Q9NXE4,O75381,P04062,Q9BT22,Q15904,Q6NUK1,Q9BUB7,Q15067,O43819,P56589,P07602,Q9HC21,Q9NZJ7,P20674 16 |
| Abnormality of the distal phalanges of the toes 0.7750126797899926 1.6362826080060675 0.1017804543295555 1.0 0.4518973272655265 5 O75431,O75844,Q7LGA3 3 |
| Pes cavus 0.3419815647240683 1.6326237081103967 0.1025481618462884 1.0 0.4548651283443308 101 Q9BUK6,Q99720,P07196,O75648,Q9BRK0,Q8N2K0,P40939,Q14739,O75298,Q7LGA3,P39210,O60313,Q9NR77,O15269,P29084,Q8TB36,Q8N0X7,Q8NI60,Q9H0B6,P04062,Q10713,P05023,Q9H6K4 23 |
| Emg abnormality 0.3690740536868998 1.6304709320017314 0.1030020038559083 1.0 0.4559953446065428 82 Q9H3H5,Q13586,Q16637,P50402,Q9BUK6,Q9BTV4,Q9Y5L0,P07196,Q96RL7,P39210,P13473,O60313,Q9NR77,O15269,P12235,O75340,Q8TB36,P22626,P03915,O43681,Q8NI60,Q9Y6B6,Q9NZJ7,O14773,Q8NCE2,Q969X5,P07602,P42167,O43819,Q13510,P54098 31 |
| Microcornea 0.4320239554660265 1.6281822059824504 0.1034862566598686 1.0 0.4576969382389171 33 O43505,O75845,Q9NWM8,Q8NCH0,P29084,Q96J42,Q9H5K3 7 |
| Abnormality of epiphysis morphology 0.3932028796309348 1.626786880427949 0.1037823689826935 1.0 0.4583091546952478 53 P40855,Q7Z2Z2,Q7RTS9,Q7Z4L5,P51798,P38435,O75381,Q9UBM7,P51812,Q8WVQ1,Q9UG56,P56589,O95202,P08236,O15228,Q14739,P16435,Q7LGA3 18 |
| Psychotic mentation 0.7296629657084089 1.6227185796097272 0.1046495777696998 1.0 0.4615056451787918 6 P03886,P00403 2 |
| Rod cone dystrophy 0.3962758033594291 1.6207940790758126 0.1050618087620101 1.0 0.4628780843726253 47 P40855,Q9H3H5,Q86SQ9,O75381,P00846,P38435,Q15067,P03915,P56589,Q96HR9,Q9Y276,Q5T8D3,Q8N2K0,P03886 14 |
| Increased bone mineral density 0.4598194926429104 1.619699913860426 0.1052967547277707 1.0 0.4634675601946644 28 Q13126,P51798,P04062,Q15392,P29084,Q14108,Q15043,Q9Y4P3,Q14739 9 |
| Symptomatic seizures 0.6818196005078067 1.6186742223400676 0.1055173760275036 1.0 0.4639929145470458 7 P00367,P40939,Q13423,Q16836 4 |
| Inability to walk 0.3580440651132044 1.6167837966076404 0.1059249582364314 1.0 0.4648928722598935 90 Q96CU9,Q9H3H5,Q9BUK6,Q99720,P07196,O43292,O14949,Q96N66,Q15041,O75503,Q7RTS9,Q9NR77,O15269,P12235,Q8TB36,Q96JX3,Q15043,Q9NVI7,P00846,P21912,P35637,Q13510 22 |
| Redundant neck skin 0.7277075772073587 1.6137537518518952 0.1065808497015083 1.0 0.4657917356681315 6 O96000 1 |
| Abnormal 5th finger phalanx morphology 0.8241551939925118 1.6133092075748243 0.1066773471341746 1.0 0.4657917356681315 2 Q9UHX1 1 |
| Abnormality of the middle phalanx of the 5th finger 0.8241551939925118 1.6133092075748243 0.1066773471341746 1.0 0.4657917356681315 2 Q9UHX1 1 |
| Maternal diabetes 0.8241551939924893 1.6133092075747224 0.1066773471341968 1.0 0.4657917356681315 2 Q8TAA9 1 |
| Vitiligo 0.6349246698784101 1.6130221128001063 0.1067397037214181 1.0 0.4657917356681315 8 P03886,P00403 2 |
| Abnormal transferrin saturation 0.8235294117647045 1.6104955078379384 0.1072897253539819 1.0 0.4660901632911001 2 Q658P3 1 |
| Emg impaired neuromuscular transmission 0.768709743530569 1.6086870180826185 0.1076847958555196 1.0 0.4660901632911001 5 O75340,Q9H3H5 2 |
| Ichthyosis 0.4155104398657958 1.6084517297929746 0.1077362799266998 1.0 0.4660901632911001 37 P40855,Q15800,Q13586,Q7Z2Z2,P50402,O96011,Q9BTV4,O75381,P04062,P48449,P29084,P56589,P18074,P51648,P50542,O95470,Q15738 17 |
| Slow pupillary light response 0.8023450897745823 1.6077145050953925 0.1078977202814597 1.0 0.4660901632911001 4 P07602,Q9NZJ7 2 |
| Abnormal pupillary light reflex 0.8023450897745823 1.6077145050953925 0.1078977202814597 1.0 0.4660901632911001 4 P07602,Q9NZJ7 2 |
| Resting tremor 0.4925258188747178 1.6073248406687712 0.1079831278594574 1.0 0.4660901632911001 21 P04062,P12235,P07602,Q9NZJ7,Q9H6K4 5 |
| Shoulder girdle muscle weakness 0.5970617562524145 1.605768715496321 0.1083247368150959 1.0 0.4660901632911001 11 O14979,Q9Y5L0,P12235,P07602,Q9NZJ7,P54098 6 |
| Abnormal larynx morphology 0.4636488939451886 1.6057267646162137 0.1083339579226703 1.0 0.4660901632911001 27 P21964,Q9UHX1,P07602,Q13510,Q9NZJ7 5 |
| Decreased activity of mitochondrial complex iv 0.536790630123041 1.6055541938128524 0.10837189676996 1.0 0.4660901632911001 15 Q9Y2R0,P13073 2 |
| Somatic sensory dysfunction 0.3369685156415352 1.6054755166087575 0.1083891970576416 1.0 0.4660901632911001 106 Q93063,Q9BUK6,Q8NBM4,P07196,O15020,P61978,Q9BRK0,Q8N2K0,O75298,P41440,P39210,Q8IV08,Q9NR77,O15269,Q8TB36,Q9NZ08,Q8N0X7,Q8NCH0,P18887,Q9Y6B6,Q9NZJ7,O00170,O15460,Q9H0B6,P00846,O14773,O43819,P07602,Q96BR5,Q9H6K4 30 |
| Abnormality of ocular smooth pursuit 0.4963433299611076 1.6050184209986835 0.1084897507992637 1.0 0.4660901632911001 20 P41440,O14773,Q9UBB4,Q10713,P46977 5 |
| Mitral stenosis 0.8017035876091836 1.6050035891612646 0.1084930148028355 1.0 0.4660901632911001 4 O75844 1 |
| Mixed demyelinating and axonal polyneuropathy 0.7676643107978172 1.6041047236143782 0.1086909708742893 1.0 0.4663127608108556 5 P03915,P03886,P00403 3 |
| Abnormal cardiac ventricular function 0.4871992064884142 1.6007228473084083 0.1094383184550189 1.0 0.4680264262071974 22 P21912,P00403,O75844,P03915,P03886 5 |
| Abnormal lower limb bone morphology 0.316000709772319 1.6004491430429697 0.1094989805530588 1.0 0.4680264262071974 172 O43505,O75431,Q9Y487,Q15392,Q9BV10,Q10469,O95202,O75648,P40939,Q14739,Q5H8A4,Q7LGA3,Q7Z2Z2,Q7RTS9,Q9NXE4,Q96A33,O75844,P29084,P17302,O75718,Q9H5K3,Q9H936,Q7Z4L5,Q8N0X7,O75845,P51798,P13073,Q9UHX1,Q9NZJ7,Q32P28,Q9UBM7,P04062,P51812,Q10713,P21964,Q969X5,P07602,P08236,Q9NX62,Q13510,Q96J42,P16435 42 |
| Anasarca 0.8200876095119093 1.595015570543637 0.1107087539320255 1.0 0.4718670715168364 2 Q9H3H5 1 |
| Abnormality of visual evoked potentials 0.4861110093076126 1.5925396298869254 0.1112635059433171 1.0 0.4718670715168364 22 O75503,Q9H936,P51798,O60313,Q15067,O43681,P07602,Q9NZJ7 8 |
| Retinal dysplasia 0.6191965379454354 1.59248035047444 0.1112768147594567 1.0 0.4718670715168364 9 Q9NX14,P53701,Q10713,Q9H5K3 4 |
| Progressive peripheral neuropathy 0.8951486697965463 1.5896192572708163 0.111920653634199 1.0 0.4718670715168364 3 P07602,Q9NZJ7 2 |
| Vegetative state 0.8951486697965463 1.5896192572708163 0.111920653634199 1.0 0.4718670715168364 3 P07602,Q9NZJ7 2 |
| Emg decremental response of compound muscle action potential to repetitive nerve stimulation 0.8951248444331172 1.5895233991702038 0.1119422755868182 1.0 0.4718670715168364 3 Q9H3H5 1 |
| Single fiber emg abnormality 0.8951248444331172 1.5895233991702038 0.1119422755868182 1.0 0.4718670715168364 3 Q9H3H5 1 |
| Response to drugs acting on neuromuscular transmission 0.8951248444331172 1.5895233991702038 0.1119422755868182 1.0 0.4718670715168364 3 Q9H3H5 1 |
| Fulminant hepatic failure 0.8942616252466214 1.586050099661769 0.1127279451643781 1.0 0.4735006018136822 3 P40939 1 |
| Spastic diplegia 0.4805299652057845 1.5859830287697632 0.1127431594453791 1.0 0.4735006018136822 23 P07602,P51648,Q9NZJ7 3 |
| Dyskinesia 0.3783970642275087 1.5815333359091766 0.1137561429843145 1.0 0.4764448328648349 70 Q9BTV4,Q08J23,Q96RL7,Q9BPX6,Q9ULK4,Q96N66,P03886,P35610,O75569,Q9P0J0,Q9NZ01,Q9H936,Q86SQ9,Q9UBX3,Q9UBB4,P03915,Q15043,P00846,P04062,O75306,O43819,O95169,Q96DA6,Q08209,Q01105 25 |
| Anteriorly placed anus 0.5924969795408241 1.580011253356644 0.1141042893717099 1.0 0.4768456877155327 11 Q9NX14,P53701,Q6NUK1 3 |
| Delayed cranial suture closure 0.455070555201872 1.5799608723104537 0.1141158273690445 1.0 0.4768456877155327 28 P40855,O75431,O75381,Q9Y487,Q8NCH0,P51812,O75844,Q32P28,P16435,O75718 10 |
| Renal tubular dysfunction 0.4054678963870466 1.579374026733692 0.1142502912683731 1.0 0.4768456877155327 41 Q96CU9,P40855,Q9NPL8,Q9Y375,Q9NWS8,P00403,O96000,O75306,Q9Y6M9,P03915,O43819,O43676,Q9NX14,P03886,Q86Y39 15 |
| Positional foot deformity 0.3434264127089456 1.579211351160309 0.1142875871840141 1.0 0.4768456877155327 98 P49902,Q9Y487,Q15392,Q9BV10,Q8TAA9,O95202,Q9HC21,Q5H8A4,Q8NBU5,Q7RTS9,Q96A33,Q9NR77,Q8TB36,Q9UM00,O75845,Q9NWM8,Q8NCH0,Q9UHX1,Q8NI60,Q9NVI7,Q9UBM7,P21964,Q969X5,P08236,Q96J42,P16435 26 |
| Hyperlipidemia 0.4549371507723444 1.5788424549597389 0.1143721979047076 1.0 0.4768456877155327 28 P31751,P50402,O75844,P22830,P23786,P50416,P49257,O95470 8 |
| Echolalia 0.5921613276683615 1.578114903056305 0.1145392150630391 1.0 0.477107894017132 11 Q9NX14,P53701,Q8NFG4,Q9UHX1 4 |
| Abnormal pleura morphology 0.4699060429552085 1.574162105761137 0.1154499775116506 1.0 0.4790221367548886 25 P14174,Q93063,Q8NBM4,Q8NCH0,Q6NUK1,O15460,P08236,Q8NFG4,Q9NZ08,Q14739 10 |
| Mitral valve calcification 0.7943849891731188 1.5740445233099785 0.1154771565988679 1.0 0.4790221367548886 4 P04062,O75844 2 |
| Cardiac valve calcification 0.7943849891731188 1.5740445233099785 0.1154771565988679 1.0 0.4790221367548886 4 P04062,O75844 2 |
| Abnormal nephron morphology 0.3795570987904941 1.573316995904192 0.1156454358456713 1.0 0.4790221367548886 68 O75431,Q12769,P00846,P00403,Q8NBM4,P61619,P21912,O75306,O43819,P03915,Q14108,Q9Y276,P23786,Q9Y4P3,P03886,O95470,P23458,Q9NQH7 18 |
| Abnormal large intestine physiology 0.4879194786787751 1.573262810915119 0.1156579767042889 1.0 0.4790221367548886 21 P21964,O43681,P07602,Q9NZJ7,O75298 5 |
| Abnormal c peptide level 0.8901517552283267 1.569506723764385 0.1165299139981872 1.0 0.4813973946203684 3 P40939 1 |
| Splenomegaly 0.3609798545751936 1.5691215383570285 0.1166196220053708 1.0 0.4813973946203684 85 P14174,Q8NBM4,Q15904,Q15392,Q14739,Q96A33,O15118,P36551,Q14108,Q9NZ08,P51798,Q658P3,Q9BT22,Q9NZJ7,P04062,Q9H0U3,Q10713,P21964,P07602,P08236,Q13510 21 |
| Biliary cirrhosis 0.6714195949846908 1.5678568702581843 0.116914539178224 1.0 0.4821803947026305 7 P09601,Q9UJW0,P14174,Q14739 4 |
| Cerebral calcification 0.4306733678236154 1.5670193308272435 0.1171101732502379 1.0 0.4823066084799873 32 Q9NSD9,O75845,P00403,O60313,P03915,P17302,P23786,P03886 8 |
| Turricephaly 0.6143779281430095 1.5666867927217112 0.1171879193862397 1.0 0.4823066084799873 9 Q6NUK1,P21964 2 |
| Areflexia of lower limbs 0.4533898185087108 1.5658618684708718 0.1173809584582707 1.0 0.4823066084799873 28 Q16637,Q13586,P54886,Q96RL7,P07196,O60313,Q9NR77,P12235,Q15067,Q8NCE2,Q9H6K4,P54098,Q15041,Q9Y223 14 |
| Abnormal heart rate variability 0.7919536358546988 1.5637469592177466 0.1178770049594826 1.0 0.4831059362471818 4 Q9NZJ7 1 |
| Scrotal hypoplasia 0.4903725512221094 1.5615743699893212 0.1183882912468929 1.0 0.4839028996371665 20 Q8TCJ2,P46977,Q9BV10,Q6NUK1,P16435 5 |
| Oromandibular dystonia 0.7162520912485602 1.561110589683582 0.1184976599150273 1.0 0.4839182510968408 6 P35637,Q15043,Q99720 3 |
| Hyperactive patellar reflex 0.6248183590850158 1.5603322513113165 0.1186813857029156 1.0 0.4841615433829654 8 P13073,P21912 2 |
| Muscle fiber tubular inclusions 0.7910305396047095 1.5598357665169351 0.118798696929812 1.0 0.4841615433829654 4 O75340,Q9H3H5 2 |
| Proximal amyotrophy 0.5595779272266802 1.5561491395019509 0.1196726323165999 1.0 0.4852543544587797 13 Q16637,O14979,Q13586,P50402,P07196,P35637 6 |
| Retinal thinning 0.8113266583229277 1.5555799046690613 0.1198080202883447 1.0 0.4852543544587797 2 P51648 1 |
| Abnormal optical coherence tomography 0.8113266583229212 1.5555799046690322 0.1198080202883515 1.0 0.4852543544587797 2 Q96S66 1 |
| Photoreceptor layer loss on macular oct 0.8113266583229212 1.5555799046690322 0.1198080202883515 1.0 0.4852543544587797 2 Q96S66 1 |
| Xerostomia 0.5120265064697035 1.5475747070399988 0.1217247249158219 1.0 0.4892479733020143 16 Q14739,Q15165,Q92804 3 |
| Abnormal circulating fatty acid concentration 0.4837759839730715 1.542531430899335 0.1229445061462111 1.0 0.4934919853451613 21 P40855,O75431,O75381,P49748,P56589,P23786,O75648,P40939,Q16836,O75880 10 |
| Prolonged partial thromboplastin time 0.6662055449065981 1.542301098543946 0.1230004421346235 1.0 0.4934919853451613 7 P28288,Q7Z2Z2,P38435,Q9BV10,P49257 5 |
| Abnormal lower motor neuron morphology 0.5979091557613047 1.5418759528186556 0.1231037405607855 1.0 0.4934919853451613 10 Q13510,Q99720 2 |
| Focal onset seizure 0.3610489977915651 1.5391607711269828 0.12376505194467 1.0 0.495456927733351 83 Q9UBX3,Q9H3H5,P21912,P00403,P03915,P07602,Q96PU5,Q9NZJ7,Q96N66,Q01105,P03886,Q9NZ01 12 |
| Aplasia hypoplasia of the lungs 0.4222613689091154 1.5380615863931388 0.1240335572222195 1.0 0.495456927733351 33 Q7Z4L5,Q9H3H5,O96000,O75844,Q6NUK1,Q8TAA9,O95202,Q14739,Q5H8A4 9 |
| Abnormal brain n acetyl aspartate level by mrs 0.8820760470839512 1.5369694952035131 0.1243007796450283 1.0 0.495456927733351 3 Q9NZJ7 1 |
| Abnormal brain choline level by mrs 0.8820760470839512 1.5369694952035131 0.1243007796450283 1.0 0.495456927733351 3 Q9NZJ7 1 |
| Reduced brain n acetyl aspartate level by mrs 0.8820760470839512 1.5369694952035131 0.1243007796450283 1.0 0.495456927733351 3 Q9NZJ7 1 |
| Abnormal larynx physiology 0.5103025585231067 1.5359496939377848 0.1245507188512604 1.0 0.495456927733351 16 Q13510,Q15165,Q92804 3 |
| Fasting hyperinsulinemia 0.7853888616170306 1.5359133295186582 0.1245596385006804 1.0 0.495456927733351 4 P40939,Q16836 2 |
| Abnormal elasticity of skin 0.3801924520268054 1.5348371700022378 0.1248238299727522 1.0 0.4960475185907638 63 Q13126,P38435,Q9NWM8,Q9Y487,O96000,Q8NCH0,O75844,Q9BV10,P04062,Q9UHX1,P51812,Q9Y4P3,Q9NX14,Q6NUK1 14 |
| Papilloma 0.6070611971127013 1.5274103440771394 0.1266590058586993 1.0 0.500892220273545 9 P16615 1 |
| Easy fatigability 0.4773133917481266 1.5261545158091716 0.1269713879371443 1.0 0.5011049952868178 22 Q9H3H5,Q13586,P21912,Q9NWM8,P12235,P53007,O75340,Q8NCE2,P61978,O00170,Q53H12,P54098 12 |
| Pericardial effusion 0.7822510070067197 1.5225945591731609 0.1278601718372325 1.0 0.5031090064982693 4 P04062 1 |
| Blurred vision 0.707000516970724 1.5184477933058662 0.128901551033671 1.0 0.5039536416297985 6 P03915,P03886,P00846,O75306 4 |
| Abnormality of the shoulder girdle musculature 0.4302860881073719 1.5179583205630804 0.1290249061322015 1.0 0.5039536416297985 31 Q9H3H5,O14979,P50402,Q9Y487,O60313,P12235,O75340,P07602,Q9NZJ7 9 |
| Abnormal circulating metabolite concentration 0.2946785922071322 1.516972794466555 0.1292735529401842 1.0 0.5039536416297985 355 O43505,P14174,O14979,O75431,Q9BUK6,O96000,Q15904,P07196,O43676,P03886,Q86Y39,Q7Z2Z2,Q15800,Q8N511,Q5XKP0,P55263,P13473,O75844,Q4J6C6,P56589,P36551,Q9Y276,Q86VD7,P20674,Q9H5K3,Q9NSD9,O14653,Q9NZJ7,P00846,P21912,P21964,P07602,P42167,Q9H3H5,O95298,Q9Y6M9,Q14739,O95470,P40855,P39210,Q9P0J0,Q70HW3,O75845,Q9NWM8,Q9BT22,P03915,P37268,Q969X5,P50402,Q9Y6N5,Q9Y487,Q15392,Q9BV10,P40939,Q13423,P41440,P12235,O75340,Q16836,Q96JX3,Q15043,P23786,Q9NVI7,O75381,P51530,Q9NX14,P49257,O75880,Q96CU9,Q9BPX6,Q9BUB7,O75648,Q9NPL8,P35610,O14678,Q9Y375,Q12769,P51798,P61619,Q658P3,P22830,P00367,Q3ZAQ7,P31751,Q9UBM7,Q9UGP8,P15291,P05023,O75306,O43819,Q9Y4P3,P50416 92 |
| Dysmetric saccades 0.7058768967638461 1.5132577372402127 0.1302142034043891 1.0 0.5039536416297985 6 O15020,O14773 2 |
| Shuffling gait 0.5807006341978966 1.5131733412409536 0.1302356339659158 1.0 0.5039536416297985 11 O75844 1 |
| Abnormality of alkaline phosphatase level 0.4666444772948762 1.5121208520063545 0.130503121088269 1.0 0.5039536416297985 24 Q8N511,O75845,P51798,Q9UJS0,Q96A33,Q96S52,Q92643,Q14739,P22626 9 |
| Chorioretinal dysplasia 0.6155263720807743 1.511677278048183 0.1306159817318029 1.0 0.5039536416297985 8 O43505,P53701,Q9NX14,Q9H5K3 4 |
| Foam cells 0.7464482761301259 1.5108123849600124 0.1308362583515012 1.0 0.5039536416297985 5 O75845,Q13510 2 |
| Abnormal sensory nerve conduction velocity 0.705241482456988 1.510321925565592 0.1309612997144862 1.0 0.5039536416297985 6 P54098,Q9NR77,O15269 3 |
| Cerebral visual impairment 0.3763644779352393 1.5060233614548122 0.1320611766607906 1.0 0.5039536416297985 65 Q9H490,P00403,P37268,Q96A33,P12235,P03915,Q96N66,Q01105,P03886,Q9NZ01 10 |
| Generalized hypotonia 0.292891226566057 1.5036274212080332 0.1326773265378142 1.0 0.504020382649992 359 O75431,Q9BUK6,O15020,O14949,O43676,Q86Y39,O75352,P50897,Q8N511,Q5XKP0,Q9C0E8,P55263,P46977,Q4J6C6,Q3ZCQ8,P56589,Q9Y276,Q86VD7,Q9NZ01,Q9NSD9,Q9UBX3,Q86SQ9,O75208,Q8NCH0,P13073,Q9UHX1,Q9NZJ7,P21912,Q10713,P07602,Q9H3H5,Q7KZN9,Q9Y6M9,Q96N66,Q5H8A4,O95470,Q96AA3,P40855,P39210,Q96A33,Q6P4A7,Q9P0J0,Q70HW3,P17900,O75845,Q9BT22,Q01105,Q9Y487,O43292,Q9BV10,O15228,P40939,Q9NR77,P12235,O15118,O75340,Q8TCJ2,Q16836,Q8N0X7,Q96JX3,O43681,P23786,Q9NVI7,Q6NUK1,O75381,P51530,O75880,Q96CU9,Q10469,Q9BUB7,O95202,P51571,O75648,Q13144,P29084,P11117,O14678,P51798,Q9UBB4,Q8NI60,Q92643,Q9NWS8,Q9UBM7,P51812,P15291,O43819,Q53H12,P50416 88 |
| Multiple joint contractures 0.4783906578582453 1.5024621132349496 0.1329778054627244 1.0 0.504020382649992 21 P41440,Q9H0B6,O75844,P51530,Q15043 5 |
| Renal dysplasia 0.550701719938829 1.502387052589788 0.132997178169784 1.0 0.504020382649992 13 O43505,Q9H936,Q9NWS8,O75306,O43819 5 |
| Motor neuron atrophy 0.4695572433771746 1.50156262777394 0.1332101011325055 1.0 0.504020382649992 23 Q16637,Q99720,Q13510,Q92804,Q15165 5 |
| Thoracic scoliosis 0.5785387061401526 1.5008820294982783 0.1333860769632093 1.0 0.5040663567569865 11 O75844 1 |
| Left ventricular systolic dysfunction 0.657618607134552 1.5001042870415513 0.1335873906368019 1.0 0.5040663567569865 7 P54098,O75844,P49748,P12235 4 |
| Abnormal circulating free fatty acid concentration 0.7764558547275997 1.497972953417959 0.1341402776519467 1.0 0.5054529212181084 4 P40939,Q16836,O75431 3 |
| Morphological abnormality of the pyramidal tract 0.4815531554766504 1.497085987282834 0.1343708854061021 1.0 0.5055177311922742 20 Q15056,P00846,Q9UBB4,O75569,P35637,Q9Y4P3,O95831,O75298 8 |
| Neonatal death 0.5351232068950939 1.4968277348717502 0.1344380876187325 1.0 0.5055177311922742 14 Q14739,P04062,O96000,Q9NVI7,Q6NUK1 5 |
| Ectopic anus 0.5497543642395996 1.4966342313931018 0.1344884579492322 1.0 0.5055177311922742 13 Q9NX14,P53701,Q6NUK1 3 |
| Brushfield spots 0.7425618540557324 1.4936648570497932 0.1352632383011009 1.0 0.508013244176758 5 P40855,O96011,O75381,P56589 4 |
| Gastrointestinal hemorrhage 0.4392555666511386 1.4931116273761686 0.1354079694217083 1.0 0.5081403078544369 29 Q9UGP8,P21912,Q8NBM4,P49257,Q9UHX1,P21964,Q14739 7 |
| Difficulty climbing stairs 0.4876142143512091 1.49010043244269 0.1361978305181577 1.0 0.5093249249764331 17 Q9H3H5,P12235,O75340,P40939,Q9H5K3 5 |
| Middle age onset 0.5759366083522859 1.486071474225351 0.1372602166033585 1.0 0.5113222052655193 11 Q9NZJ7 1 |
| Abnormal liver morphology 0.3119742418081403 1.4847859179995355 0.1376005433885885 1.0 0.5114852279842699 242 Q96CU9,P14174,Q9H3H5,O75431,Q7KZN9,O96000,Q15904,Q9Y6M9,Q15067,Q9BUB7,Q9HC21,O43676,O75648,P40939,P03886,Q86Y39,Q14739,Q96AA3,Q7Z2Z2,P40855,Q8N511,Q5XKP0,P39210,Q9NPL8,P55263,P09601,Q96A33,P35610,O15118,O75340,P56589,P36551,Q9Y276,Q14108,P20674,Q16836,Q9NSD9,Q7Z4L5,Q86SQ9,Q9Y375,O75845,P51798,Q658P3,Q9BT22,P22830,P03915,P23786,Q9NZJ7,Q9NVI7,P23458,P31751,Q9NWS8,P00846,O75381,Q9UGP8,P04062,P10619,Q9H0U3,Q10713,P50416,O75306,P07602,P08236,Q13510,Q9NX14,Q96J42,Q01844,O75880 68 |
| Prominent ear helix 0.7706909505551376 1.4734508464075398 0.1406295084939279 1.0 0.5178468296271305 4 O75844 1 |
| Extrapyramidal muscular rigidity 0.6966438712756813 1.4705427766255967 0.1414148091036819 1.0 0.5181776942871761 6 Q9H6K4 1 |
| Ambiguous genitalia male 0.8653685943279943 1.4695456836060503 0.1416848403667014 1.0 0.5181776942871761 3 O75845 1 |
| Abnormality of the ankles 0.3822631161688075 1.4695094762392316 0.1416946534408638 1.0 0.5181776942871761 47 P49902,Q8N0X7,Q7RTS9,O75844,Q969X5,P07602,Q9NZJ7,O75298 8 |
| Abducens palsy 0.8651770653979094 1.4687720369604536 0.1418946309974567 1.0 0.5181776942871761 3 Q9NZJ7 1 |
| Pulmonary infiltrates 0.5957742113166505 1.466569465607964 0.1424932114364561 1.0 0.5181776942871761 9 P04062,Q13510 2 |
| Psychosis 0.4195433160247585 1.4655316472678896 0.1427759245416195 1.0 0.5187940414351316 32 Q8N0X7,Q6DKK2,P00403,Q9UJS0,Q96RL7,P51812,Q9Y287,O15118,P03915,P36551,O00170,P03886,O76024 13 |
| Spastic paraplegia 0.3787869355766044 1.4631651535862222 0.143422193314856 1.0 0.5199533935206804 52 Q96CU9,P49902,Q8N0X7,Q9H0B6,P00846,P04062,Q7KZN9,Q9P0J0,O75298,Q9BRK0,Q15041 11 |
| Retinal pigment epithelial mottling 0.8637771267010471 1.4631168099056595 0.1434354189022566 1.0 0.5199533935206804 3 Q9UG56 1 |
| Hyperextensible skin 0.5145611437437365 1.46110451489278 0.1439867613905594 1.0 0.5215393997561607 15 P04062,Q8NCH0,Q9UHX1 3 |
| Abnormal circulating proline concentration 0.7669575521780051 1.457555643765458 0.144963063365914 1.0 0.5238334040556926 4 O96000 1 |
| Depletion of mitochondrial dna in muscle tissue 0.733535716211134 1.4537774920544153 0.146008005656038 1.0 0.526740463535479 5 Q9UBX3 1 |
| Anomalous trichromacy 0.8607818628876541 1.4510146556963686 0.1467757792725277 1.0 0.5283005660854062 3 Q9H6K4 1 |
| Tritanomaly 0.8607818628876541 1.4510146556963686 0.1467757792725277 1.0 0.5283005660854062 3 Q9H6K4 1 |
| Limb muscle weakness 0.3517833277188695 1.4447481426197524 0.1485286419024807 1.0 0.533293047379555 85 Q16637,Q13126,P50402,Q99720,P07196,Q15067,P40939,Q14739,O75298,Q7RTS9,P39210,Q9NR77,O15269,P12235,Q8TB36,P36551,Q8N0X7,Q9BQT8,Q3ZAQ7,P00846,P05023,O43819,Q969X5,Q13510 24 |
| Talipes equinovarus 0.3623126468276672 1.4443345121798008 0.1486449022149407 1.0 0.533293047379555 75 P49902,Q9Y487,Q15392,Q9BV10,Q8TAA9,O95202,Q9HC21,Q5H8A4,Q8NBU5,Q7RTS9,Q96A33,Q9NR77,Q8TB36,Q9UM00,O75845,Q9NWM8,Q8NCH0,Q8NI60,P21964,Q969X5,P16435 21 |
| Childhood onset 0.3987367005752306 1.443979416953165 0.1487447652883176 1.0 0.533293047379555 37 Q8N0X7,Q9H3H5,O75431,P50402,O95298,Q9NR77,Q8WWV3,P22830,Q8TB36,Q14566 10 |
| Positive romberg sign 0.5799833412470946 1.4426055341426256 0.1491316235302342 1.0 0.5342620007940057 10 P41440,P07196,Q8IV08,P18887,Q9H6K4 5 |
| Laryngomalacia 0.5405589368562035 1.4406515201972063 0.1496831574730524 1.0 0.5353541519301028 13 P07602,P16435,Q9NZJ7,P21964 4 |
| Motor delay 0.3098789150780466 1.439747988322171 0.1499387111329411 1.0 0.5353541519301028 231 P49902,Q9H3H5,Q9BUK6,Q99720,Q9Y487,Q9BV10,Q9BPX6,O75648,Q96N66,P40939,P03886,Q5H8A4,Q7LGA3,Q7RTS9,Q5XKP0,P00403,P35610,O60313,Q9NR77,P29084,O75340,Q8TB36,Q5T8D3,Q86VD7,Q9UM00,Q16836,Q9NZ01,Q9H5K3,Q8N0X7,P51798,Q9NWM8,Q8NCH0,P03915,Q3ZAQ7,Q9H0B6,P21912,P04062,P51812,Q10713,O43819,P35637,Q13510,Q53H12,P16435,Q01105 45 |
| Atrophy degeneration affecting the central nervous system 0.3031422414820953 1.4343662510363169 0.1514677733046094 1.0 0.5353541519301028 306 Q9H3H5,Q16637,Q99720,P07196,Q10469,Q9BUB7,O75648,Q96N66,P03886,Q86Y39,O75352,O75298,Q5H8A4,Q7LGA3,P50897,Q96AA3,P40855,O75503,Q8NBU5,P00403,P55263,P51572,Q96A33,O60313,P29084,Q3ZCQ8,O15118,Q9Y276,Q9UM00,P17900,O14678,Q9NZ01,Q9NSD9,Q9H936,Q86SQ9,Q9H490,O75845,Q96JX3,Q9BT22,P13073,Q9UHX1,P03915,Q15043,Q2TAA5,Q9NZJ7,Q15165,Q9NWS8,P00846,O14773,Q6DKK2,O96008,P04062,P51812,Q10713,O75306,O43819,P07602,Q9Y320,P08236,P35637,Q9Y4P3,Q13510,Q92804,Q9NWW5,Q01105,O75880 66 |
| Rigidity 0.3732623307768659 1.432933281499314 0.1518769049930695 1.0 0.5353541519301028 60 Q96CU9,P00846,P04062,Q15392,Q9BPX6,P12235,O43681,P07602,Q9H6K4,Q9NZJ7,Q9BRK0,Q9Y287 12 |
| Type i diabetes mellitus 0.5531282540766398 1.4326648659079944 0.1519536346696377 1.0 0.5353541519301028 12 P03886,P00403 2 |
| Cardiovascular calcification 0.578000646439962 1.431577466529029 0.1522647822751444 1.0 0.5353541519301028 10 O75844 1 |
| Respiratory insufficiency 0.3063240836745601 1.4290182664039743 0.1529989833806777 1.0 0.5353541519301028 185 Q96CU9,Q9H3H5,Q16637,P50402,O96000,Q9Y6M9,Q15067,Q9BUB7,O43676,O75648,P40939,P03886,Q86Y39,Q14739,Q96AA3,P40855,Q7RTS9,Q9NPL8,Q9NXE4,Q5XKP0,Q8NBU5,P13473,Q9NR77,P12235,P56589,P36551,Q70HW3,Q9H5K3,Q9NSD9,Q7Z4L5,Q9Y375,O75208,Q9BT22,P23786,Q9NZJ7,Q6NUK1,Q15165,Q3ZAQ7,O75381,Q9UGP8,Q53H12,P53701,O75306,O43819,Q969X5,P07602,P35637,Q13510,Q92804,Q9NX14 50 |
| Color vision defect 0.478395008479997 1.4258463266957973 0.1539127052062718 1.0 0.5353541519301028 18 Q9H061,Q9H6K4,Q8WWV3 3 |
| Upper airway obstruction 0.7272184770308243 1.4258124436374056 0.1539224880387995 1.0 0.5353541519301028 5 O75844 1 |
| Abnormal basal ganglia mri signal intensity 0.415135063785215 1.4250950234754078 0.1541297350069987 1.0 0.5353541519301028 32 Q96CU9,P00846,Q7KZN9,Q9BPX6,Q9P0J0,O75340,P03915,Q8NI60,P03886 9 |
| Abnormality of lower limb joint 0.3112056057875607 1.42476763003521 0.1542243822394737 1.0 0.5353541519301028 165 P49902,Q9H3H5,O75431,Q9Y487,O95202,O75298,Q15041,Q7LGA3,Q8NBU5,Q7Z2Z2,Q7RTS9,Q96A33,O75844,Q9NR77,O75340,P17302,O75718,Q8N0X7,P51798,Q86XL3,Q9UHX1,Q96PU5,Q15043,P23786,Q9NZJ7,P37268,Q9UBM7,P21912,P21964,Q969X5,P07602,P08236,Q9NX62,Q9Y4P3,Q13510,P16435 36 |
| Abnormal enzyme coenzyme activity 0.3068902992753718 1.422179305885834 0.1549742047122408 1.0 0.5353541519301028 193 O43505,Q9H3H5,O75431,Q15904,Q10469,Q9BV10,Q15067,O75648,P40939,P03886,Q14739,Q14566,P41440,Q7Z2Z2,P40855,Q8N511,Q5XKP0,P39210,P55263,Q96A33,P12235,O15118,O75340,Q9Y276,O14678,P20674,Q16836,Q9H5K3,Q9NSD9,O75845,P51798,Q658P3,P03915,Q92643,P23786,Q9NZJ7,Q2TAA5,P00846,P04062,P10619,Q10713,P07602,Q13510,P50416,O75880 45 |
| Pathologic fracture 0.4778411882911672 1.421887786416257 0.1550588293746821 1.0 0.5353541519301028 18 O75845,Q13126,P04062,O15269,Q14108,P22626 6 |
| Flat occiput 0.5082880769141493 1.420014529296295 0.1556034512079769 1.0 0.5353541519301028 15 P40855,O96011,P52732,O75381,Q9BUB7,P56589 6 |
| Lower limb pain 0.6855738557322264 1.4191805501705244 0.1558463848826523 1.0 0.5353541519301028 6 Q8WVX9,P00846,O75569,P54886 4 |
| Abnormal autonomic nervous system physiology 0.3988760825015318 1.4181858890693195 0.1561365005590627 1.0 0.5355427678260657 35 P42892,P41440,P04062,Q15067,P07602,Q9NZJ7 6 |
| Lumbar hyperlordosis 0.4738565964691398 1.415476233069184 0.1569289120342991 1.0 0.5378072363060274 19 Q7RTS9,Q9H3H5,Q9H5K3 3 |
| Abnormal urine protein level 0.3730058621228536 1.4144945697819695 0.1572167406473192 1.0 0.5382979176538463 57 P00403,P09601,P21912,P04062,Q14108,P03886,O95470 7 |
| Waddling gait 0.4541477133261789 1.4136702635779892 0.1574587402786498 1.0 0.5382979176538463 24 Q7RTS9,Q9H3H5,P50402,Q9BTV4,P07196,Q8WVQ1,Q4J6C6,O75340,Q5T8D3,Q13510 10 |
| Generalized osteosclerosis 0.8508261452287129 1.4107690825893622 0.1583127136089053 1.0 0.5405282069716871 3 Q15392 1 |
| Peripheral neuropathy 0.3039914683831192 1.4073166578128384 0.1593335119920056 1.0 0.5429130923536963 176 Q96CU9,Q9Y2R0,Q7KZN9,Q9BPX6,Q15067,Q9HC21,Q8N2K0,P40939,P03886,Q15041,O95470,P41440,Q9NPL8,P39210,P00403,Q8IV08,O60313,Q9NR77,O15269,P12235,Q9P0J0,P29084,Q8TB36,Q16836,P03915,O43681,Q9NZJ7,Q9NVI7,O15460,Q9NWS8,Q9H0B6,P00846,Q10713,P05023,O75306,P07602 36 |
| Facial capillary hemangioma 0.8491392801251925 1.4039474776766987 0.1603344902558627 1.0 0.5438207909433305 3 P16435,Q10469 2 |
| Avascular necrosis 0.4687750988666211 1.40300901073559 0.1606141519736827 1.0 0.5443299144551882 20 P51798,Q8NBM4,P04062,O75844,Q14108 5 |
| Glomerular sclerosis 0.397208895044491 1.4019641758045152 0.1609259446788307 1.0 0.5449835022308961 35 Q12769,P00403,P61619,P21912,P03915,Q14108,P03886,O95470 8 |
| Slender long bone 0.5340969582937144 1.4011599623207724 0.1611662439999504 1.0 0.5452492325886751 13 Q9Y487,P37268,Q9H490,Q32P28 4 |
| Status epilepticus 0.3736294591972354 1.4008936631362734 0.161245874008663 1.0 0.5452492325886751 49 Q9Y487,O43292,Q15392,P52732,Q12756,Q3ZCQ8,Q86SQ9,Q9UBB4,Q9NZJ7,P42892,P53701,P05023,P07602,Q96S52,Q13510,Q9NX14,Q08209,P51970,Q01105,P54098 20 |
| Adipose tissue loss 0.5834168341192945 1.399628951788506 0.1616244595462532 1.0 0.5453337802952375 9 O75844,P29084 2 |
| Hyporeflexia of upper limbs 0.8474673708287458 1.397185780678578 0.162357711530352 1.0 0.5458120438558638 3 Q15067 1 |
| Glucose intolerance 0.3237554673467515 1.3971721464293323 0.162361810514086 1.0 0.5458120438558638 108 Q96CU9,O75431,O96000,Q9Y6M9,Q8TAA9,O43676,P03886,Q06136,Q86Y39,Q7Z2Z2,Q9NPL8,Q9NXE4,P00403,O60313,O75844,P12235,P17302,Q96HR9,Q9Y375,P03915,P31751,P00846,O75306,Q9Y4P3,Q9NX14 25 |
| Atrophic scars 0.6366852327974417 1.3967076831564973 0.1625014928171493 1.0 0.5458811144341482 7 Q8NCH0 1 |
| Abnormal pulmonary interstitial morphology 0.4116798809918277 1.3933092274911394 0.1635263014748722 1.0 0.5481960624267606 32 P09601,Q14108,P04062,Q13510 4 |
| Hypolipoproteinemia 0.5926815879898115 1.391261714206864 0.164146079071686 1.0 0.5492596804976209 8 Q15800 1 |
| Epileptic spasm 0.3672207071992682 1.38847930508457 0.1649911422174539 1.0 0.549448678608324 64 Q9UBX3,Q9H3H5,P00846,P13073,P03915,Q13510,Q96N66,Q01105,P03886,Q9NZ01 10 |
| Abnormal adipose tissue morphology 0.3694245800282073 1.388020001766407 0.165130954533158 1.0 0.549448678608324 60 P31751,Q9H3H5,O75431,P50402,Q9BUK6,Q9BTV4,Q9Y487,P21912,O75844,Q9BV10,P29084,P03915,Q8TAA9,P42167,Q8NFG4,Q2TAA5,Q8NC56,Q6NUK1 18 |
| Impaired smooth pursuit 0.5034048271117475 1.3879349775176733 0.1651568457653707 1.0 0.549448678608324 15 P41440,Q9UBB4,Q10713,P46977 4 |
| Abnormality of the phalanges of the toes 0.5177237488850885 1.386924520630255 0.1654647798976072 1.0 0.5497894282022018 14 Q9H936,O75431,O75844,Q7LGA3 4 |
| Loss of subcutaneous adipose tissue in limbs 0.7502705702286294 1.3863873911407032 0.1656286444995627 1.0 0.5499351080413016 4 O75844 1 |
| Insidious onset 0.7496958355779085 1.3839330705018649 0.1663789494480041 1.0 0.5508287123483864 4 P04062,Q9NR77 2 |
| Cystic liver disease 0.5903905913039972 1.37912819052389 0.1678552334831908 1.0 0.5508287123483864 8 Q7Z4L5,P23458,Q96J42 3 |
| Abnormal macular morphology 0.4311051969069076 1.3772904159929056 0.1684224771487585 1.0 0.5508287123483864 28 P50897,Q86SQ9,P04062,P29084,Q96HR9,P51648,Q9UM00,Q13510,P04439 9 |
| Supernumerary tooth 0.6764290041228275 1.3766395694920008 0.168623710702467 1.0 0.5508287123483864 6 Q9UHX1 1 |
| Purpura 0.4714997515143929 1.3764712085130462 0.1686757951627659 1.0 0.5508287123483864 18 P04062,Q8NCH0,P21964 3 |
| Progeroid facial appearance 0.6325345577667362 1.3761249325047378 0.1687829576903392 1.0 0.5508287123483864 7 O75844 1 |
| Skin plaque 0.7157329947260423 1.3748773609560645 0.1691694690205496 1.0 0.5513047703073674 5 P16615 1 |
| Slow decrease in visual acuity 0.5671725043800302 1.3711917627640486 0.1703151853291498 1.0 0.5543069802967542 10 P03886,P00846 2 |
| Parkinsonism 0.4042129094149249 1.3695997547423406 0.1708118762174253 1.0 0.5550780261193211 33 O96008,Q99720,P04062,O75569,P07602,P35637,Q15043,Q9NZJ7,P54098,Q9Y4W6 10 |
| Cerebral hypomyelination 0.5143831959717429 1.3657160133014778 0.1720281162125259 1.0 0.5566616020379899 14 P51572,O43175,P49770,O75340,P00387,Q9NR50,O75746,Q13144 8 |
| Gaze evoked nystagmus 0.5758460579628288 1.3584599080874074 0.174317795893141 1.0 0.5612959527634379 9 P41440,Q9UBB4,Q10713,O15020 4 |
| Atrophy degeneration affecting the cerebrum 0.30579497257282 1.3556318681148447 0.1752163269924347 1.0 0.5630022512477811 241 Q9H3H5,Q9BUB7,O75648,Q96N66,P03886,O75352,Q5H8A4,Q7LGA3,P50897,Q96AA3,P40855,O75503,Q8NBU5,P00403,P55263,P51572,Q96A33,O60313,P29084,Q3ZCQ8,Q9Y276,Q9UM00,P17900,O14678,Q9NZ01,Q9NSD9,Q9H936,Q86SQ9,Q9H490,O75845,Q9BT22,P13073,Q9UHX1,P03915,Q15043,Q2TAA5,Q9NZJ7,Q9NWS8,P00846,O14773,Q6DKK2,O96008,P04062,P51812,Q10713,P07602,Q9Y320,Q9Y4P3,Q9NWW5,Q01105 50 |
| Epidermal acanthosis 0.5857433229457859 1.35448582832998 0.1755814316571062 1.0 0.5637800419431401 8 P16615 1 |
| Increased serum pyruvate 0.391725473223081 1.348467575375348 0.1775080422068187 1.0 0.5687705240501002 35 Q96CU9,Q9NPL8,Q9Y375,P21912,O96000,Q9Y6M9,O43676,Q70HW3,Q9NX14,P03886,Q86Y39 11 |
| Abnormality of corneal size 0.3750951443706075 1.3451974466884775 0.1785614805654944 1.0 0.5713468603010444 45 O43505,O75845,Q9NWM8,Q8NCH0,P29084,O95202,Q9Y4P3,Q96J42,Q5H8A4,Q9H5K3 10 |
| Recurrent aspiration pneumonia 0.6694216940639216 1.3439813461472152 0.1789544190673231 1.0 0.5722045695509244 6 P04062,Q13510 2 |
| Basal ganglia cysts 0.6254246516750384 1.3408117459203863 0.1799815816309347 1.0 0.5731500135708574 7 P00846 1 |
| Congenital hepatic fibrosis 0.7079735102675355 1.340407860188533 0.1801127816900072 1.0 0.5731500135708574 5 Q10713 1 |
| Nonprogressive 0.6252032333959292 1.3397109332356376 0.1803393416589018 1.0 0.5731500135708574 7 Q10713 1 |
| Hydrocephalus 0.3519882864318381 1.339234161798187 0.1804944544460589 1.0 0.5731500135708574 77 Q15392,Q8TAA9,O95202,P40855,Q9H5K3,Q9H490,P51798,P23786,Q6NUK1,Q9UBM7,P04062,P53701,Q10713,P15291,P21964,P08236,Q9NX14,Q96J42,P16435 19 |
| Dyschromatopsia 0.5828668775593984 1.339214124755006 0.180500975465462 1.0 0.5731500135708574 8 Q9H061,O60313,Q9H6K4 3 |
| Abnormal tricuspid valve morphology 0.5500143569276836 1.3375925087301557 0.1810293077920539 1.0 0.5738176805493926 11 Q9NX14,P53701,P21964 3 |
| Limb joint contracture 0.3271359438291852 1.336905235097111 0.1812535717864776 1.0 0.5738176805493926 98 P49902,Q9H3H5,P50402,Q99720,Q15392,Q9BUB7,Q9HC21,Q8N2K0,Q7LGA3,O75844,Q9NR77,O75340,Q86XL3,P23786,P37268,P42892,P21912,Q969X5,P16435 19 |
| Abnormal bone structure 0.3017549049276787 1.3364530776792012 0.1814012275229712 1.0 0.5738176805493926 186 Q9H3H5,O75431,Q13126,Q93063,Q9Y487,O43292,Q15392,Q9BV10,Q10469,O95202,Q9HC21,P61978,O15228,Q14739,Q5H8A4,Q7Z2Z2,P40855,Q7RTS9,O75844,P29084,P12235,P56589,P17302,Q14108,O75718,P22626,Q9NSD9,Q15056,Q9Y5U9,Q9H490,O75845,P38435,Q9Y375,Q9NWM8,P51798,Q8WVQ1,Q86XL3,Q9UG56,O60566,Q15043,Q9NZJ7,O00170,O95831,Q6NUK1,Q32P28,O75381,Q9UBM7,P21912,P04062,P07602,P08236,Q8NC56,Q13510,Q5JRA6,Q9Y4P3,P53634 56 |
| Hemianopia 0.5821846098211374 1.3355897181720389 0.1816834126308801 1.0 0.5738176805493926 8 P03886,P00403 2 |
| Abnormality of the tonsils 0.6237340379393245 1.3324050266752292 0.1827271312226575 1.0 0.5754334812798739 7 P31751,Q13546,P21964 3 |
| Small intestinal dysmotility 0.7615769712140137 1.3312024813274008 0.1831223951795211 1.0 0.5755329647288099 2 P36551 1 |
| Retinal coloboma 0.548836465465874 1.330808299780188 0.1832520962779662 1.0 0.5755329647288099 11 Q9UHX1 1 |
| Abnormal protein o linked glycosylation 0.8310523624317073 1.3307807877120286 0.1832611513617053 1.0 0.5755329647288099 3 Q8N511 1 |
| Cytochrome c oxidase negative muscle fibers 0.5806560182675264 1.3274665364523388 0.1843544024179078 1.0 0.5777782981387507 8 O00483,Q9Y2R0,O75648,P12235 4 |
| Falls 0.5697798280964158 1.3253924786312 0.185041010348633 1.0 0.5791379162687409 9 Q5T8D3,P21912 2 |
| Pericarditis 0.6649636026193138 1.3231791614267432 0.1857758042115582 1.0 0.5809606143189231 6 O15460,P14174,Q8NBM4 3 |
| Hiatus hernia 0.569267060592838 1.3225942487382616 0.185970347874586 1.0 0.5809606143189231 9 Q8NCH0 1 |
| Clonus 0.403811814083984 1.3206393510840158 0.1866216452941891 1.0 0.5816867003808011 32 Q8N0X7,Q8WWI5,Q9BQT8,Q99720,Q3ZCQ8,P07602,P35637,Q15043,Q9NZJ7,O75298,Q9H5K3 11 |
| Osteoarthritis 0.5470082474555927 1.3202725769101158 0.1867440279921777 1.0 0.5816867003808011 11 P04062,Q14108,O75844,P51798 4 |
| Insulin resistant diabetes mellitus 0.6641700782234254 1.3194745591459298 0.1870105099144268 1.0 0.5820309119870046 6 P31751,O75844 2 |
| Abnormal tendon morphology 0.3038139597267131 1.3191810729134703 0.1871085843205713 1.0 0.5820309119870046 222 P49902,Q9H3H5,O75431,P50402,Q99720,P07196,Q15392,Q9BV10,Q9BUB7,Q9HC21,O15228,Q8N2K0,O75352,Q15041,Q7LGA3,P50897,Q96AA3,Q7RTS9,P41440,Q9NXE4,Q8NBU5,Q96A33,O60313,O75844,Q9NR77,P29084,O75340,P17302,Q8TB36,Q9H5K3,Q8N0X7,P15586,Q8NCH0,Q9BT22,Q86XL3,Q96PU5,Q15043,P23786,P37268,Q3ZAQ7,P42892,Q9H0B6,P21912,P04062,Q969X5,P51530,P08236,P35637,Q13510,P16435 50 |
| Macroglossia 0.3987799237111474 1.3184511828279617 0.1873526566538461 1.0 0.5823947576580211 33 Q15056,P21912,Q96A33,O00170,Q10713,P10253,O75648,P61978,Q9Y4P3,Q9H5K3,Q7LGA3 11 |
| Abnormality of the spleen 0.3191045259784951 1.3167380172619143 0.1879264556296846 1.0 0.5831868124472346 118 P14174,Q8NBM4,Q15904,Q15392,O95202,Q14739,Q96A33,O15118,P36551,Q14108,Q9NZ08,O75845,P51798,Q658P3,Q9BT22,Q9NZJ7,P23458,P04062,P10619,Q9H0U3,Q10713,P21964,P07602,P08236,Q13510,Q96J42 26 |
| Amyotrophic lateral sclerosis 0.4628915923851537 1.3146227302647493 0.188636727021521 1.0 0.5844039778313789 17 Q15165,Q92804,Q99720 3 |
| Cogwheel rigidity 0.6200004263910406 1.3138266777155532 0.1889045377731713 1.0 0.5848382378896424 7 P00846 1 |
| Increased muscle lipid content 0.5669179323315583 1.3097688288202316 0.1902740511449012 1.0 0.5866996651049378 9 Q9BUK6,Q8NI60,P23786,O75648,Q9Y4W6 5 |
| Abnormal circulating pyruvate family amino acid concentration 0.4447116093748746 1.3081743722224424 0.1908141724014791 1.0 0.5876382185728165 23 Q5XKP0,P00846,O95298,O96000,Q9P0J0,P03915,P03886,O75880 8 |
| Abnormal circulating ferritin concentration 0.6617371938153076 1.30811314855828 0.1908349343597448 1.0 0.5876382185728165 6 P41440,P36551,Q658P3 3 |
| Abnormality of the knee 0.3394154723717163 1.3057615637953532 0.1916336547469483 1.0 0.5893056416446426 87 P49902,Q9H3H5,O75431,Q15041,Q7LGA3,Q7RTS9,Q9NR77,O75340,Q8N0X7,P51798,Q86XL3,Q96PU5,P23786,P37268,P21912,P21964,Q969X5,P08236,Q9NX62,Q9Y4P3,Q13510 21 |
| Narrow jaw 0.7553191489361661 1.302990621879236 0.1925779632900646 1.0 0.5908574073643572 2 O75909 1 |
| Spinal deformities 0.7307451471509077 1.302919956791252 0.1926020898679679 1.0 0.5908574073643572 4 Q8TB36,Q93063,P53007 3 |
| Wide anterior fontanel 0.4480412365096889 1.3025492970224295 0.1927286774572492 1.0 0.5908574073643572 22 P40855,O96011,O75381,Q16134,Q08J23,Q9Y487,Q6NUK1,P56589,P42345,Q32P28,P20674,P16435,O75718 13 |
| Hypopigmentation of the skin 0.3689792179086201 1.301183794833193 0.193195550794202 1.0 0.5913306705003565 46 P53701,P21964,Q9NZJ7,P21912 4 |
| Abnormal periventricular white matter morphology 0.380912479327415 1.295282171010526 0.1952229073197389 1.0 0.5943528861585834 39 O75503,O95298,O60313,Q9UHX1,O43681,P07602,O95202,P51571,O75648,Q9NZJ7,P17900 11 |
| Ulnar claw 0.6977912401762436 1.2951176264276258 0.1952796552289424 1.0 0.5943528861585834 5 Q8TB36,P39210,Q9NR77 3 |
| Abnormality of the musculature of the lower limbs 0.4307747780612886 1.2944781032657533 0.1955003279585738 1.0 0.5943528861585834 26 O14979,P00846,P50402,Q9BTV4,Q12756,Q96RL7,P07196,Q9NR77,P53007,Q8NCE2,Q9Y223,Q9H5K3 12 |
| Congenital onset 0.3175185676456797 1.2934101539958869 0.1958692400915453 1.0 0.5943528861585834 112 O43505,Q9H3H5,Q9BUB7,Q9HC21,P51571,P08670,Q96N66,O75352,Q5H8A4,Q7LGA3,Q8NBU5,Q5XKP0,P46977,Q4J6C6,P12235,P17302,O14678,Q8TCJ2,Q9H5K3,Q9UHX1,Q96PU5,Q9NZJ7,Q6NUK1,Q9NWS8,O43819,Q969X5,P07602,Q9NX14 28 |
| Nasal regurgitation 0.7525031289111347 1.2903011170893095 0.1969461291974101 1.0 0.5968301349090829 2 P53007 1 |
| Talipes calcaneovalgus 0.6959660509332941 1.2869934454816303 0.1980965727210923 1.0 0.5988116762595902 5 Q9UBM7,Q9NR77 2 |
| Abnormality of the foot musculature 0.7269179605357425 1.2865434899925492 0.1982534510881271 1.0 0.5988116762595902 4 O14979,Q8NCE2 2 |
| Nephronophthisis 0.6955442565194778 1.2851157582885184 0.1987518356714239 1.0 0.5999215487789622 5 Q7Z4L5 1 |
| Atrophy degeneration involving the corticospinal tracts 0.5150756728201786 1.2842549215029069 0.1990527740070933 1.0 0.600220823330234 13 P35637,P00846,O75298 3 |
| Osteopetrosis 0.7260496141117798 1.2828273792671687 0.1995525596479788 1.0 0.6011504459612353 4 Q15392,P51798 2 |
| Progressive spastic quadriplegia 0.5720137730189886 1.2814693296873678 0.2000288660325677 1.0 0.601399123465371 8 P17900,P07602,Q9NZJ7 3 |
| Abnormality of the tongue 0.3303442325457655 1.28085537425158 0.2002444698439145 1.0 0.6016525644752894 93 Q16637,O75431,Q10469,O75648,Q7LGA3,P40855,Q96A33,O75844,Q9H5K3,Q9BQT8,O15460,Q6NUK1,Q9NWS8,O75381,Q9UBM7,P21912,Q10713,Q9Y4P3,Q13510,Q96J42 20 |
| Acute hepatic failure 0.5005599606718424 1.2776197087257368 0.2013835479025276 1.0 0.6038870526762969 14 P40939,Q16836,P39210 3 |
| Abnormal visual fixation 0.6546890083614011 1.2751717552414925 0.2022484561370605 1.0 0.6048971449216785 6 P04062 1 |
| Abnormal circulating glutamine family amino acid concentration 0.6121643277046673 1.2747816420104194 0.2023865402334075 1.0 0.6049152820283583 7 O96000 1 |
| Pneumothorax 0.5703652996736528 1.2726825890386226 0.2031306983739524 1.0 0.6063484429638112 8 Q8NCH0,Q6NUK1,Q8NFG4 3 |
| Abnormality of exocrine pancreas physiology 0.4711690683841618 1.2690112464721548 0.2044370529159616 1.0 0.6082731936784184 16 Q7Z2Z2,P14174,P09601,Q15904,Q9UHX1 5 |
| Neck muscle weakness 0.5123414079238657 1.2673764305780333 0.2050207232827656 1.0 0.6082731936784184 13 P07602,Q9NZJ7 2 |
| Preaxial hand polydactyly 0.5485899908564158 1.2669965074721694 0.2051565387025751 1.0 0.6082731936784184 10 Q96J42,O95202,Q5H8A4,Q9UHX1 4 |
| Autoamputation 0.6528797245137565 1.2667097423464715 0.2052590951888842 1.0 0.6082731936784184 6 P39210 1 |
| Visual hallucinations 0.6528369311008684 1.2665095708058172 0.2053307050893809 1.0 0.6082731936784184 6 P04062 1 |
| Pain 0.2980997208379652 1.2664710498292049 0.2053444877694206 1.0 0.6082731936784184 185 P14174,P50402,Q8NBM4,Q8TAA9,Q9BRK0,P40939,Q14739,Q13423,Q14566,Q15800,O60313,O75844,Q9NR77,O15269,P12235,Q14108,Q70HW3,Q12769,P51798,Q15043,P23786,Q9NZJ7,O15460,Q15165,P42892,P00846,Q9UGP8,P21912,P04062,P21964,P07602,P51530,P35637,Q9Y4P3,Q13510,Q9H6K4,Q92804,Q01844 38 |
| Mildly elevated creatine kinase 0.4316295611676564 1.266410468218337 0.2053661650329012 1.0 0.6082731936784184 25 P39210,Q9BPX6,Q969X5,O75340,O75648,P40939,Q16836 7 |
| Demyelinating peripheral neuropathy 0.4532567207074905 1.2649615489702166 0.2058851118340028 1.0 0.6090158698666243 19 P41440,P00846,P07196,Q9NR77,P03915,P03886 6 |
| Bile duct proliferation 0.6905470734151383 1.2628642793444755 0.206637959142063 1.0 0.609258144932991 5 Q9NSD9,Q5XKP0 2 |
| Abnormal enchondral ossification 0.4222824272409669 1.2612890006122095 0.2072047426975718 1.0 0.609258144932991 27 P40855,Q7RTS9,O75381,Q9UBM7,P38435,Q9UG56,P56589,O95202,P08236,Q14739 10 |
| Hypergranulosis 0.8138082005948126 1.261033734884706 0.2072966931363014 1.0 0.609258144932991 3 P16615 1 |
| Generalized lipodystrophy 0.7202866961026567 1.2581615290481505 0.2083333449092441 1.0 0.6106756887583981 4 O75844 1 |
| Hand polydactyly 0.3970672004057696 1.258045550058387 0.2083752834588188 1.0 0.6106756887583981 32 Q7Z4L5,O75845,Q10713,Q9UHX1,Q15067,P21964,O95202,Q9UM00,Q96J42,Q14739,Q5H8A4 11 |
| Abnormality of the abdominal organs 0.2839167433646721 1.2554792805662678 0.2093048249886886 1.0 0.6112394570415368 356 P14174,O75431,O96000,Q15904,O43676,P03886,Q86Y39,Q7Z2Z2,Q8WWI5,Q8N511,Q5XKP0,P09601,P55263,P56589,P36551,Q9Y276,Q9NZ08,P20674,Q9NSD9,Q86SQ9,Q8NCH0,Q9UHX1,Q9NZJ7,P00846,P21912,P04062,Q10713,P21964,P07602,Q13510,Q96J42,Q9H3H5,Q7KZN9,Q9Y6M9,Q9HC21,Q14739,Q5H8A4,Q96AA3,P40855,P39210,P00403,Q96A33,Q14108,Q7Z4L5,O75845,Q9BT22,P03915,P10619,Q8NBM4,Q15392,Q15067,P40939,P12235,O15118,O75340,Q16836,O43681,P23786,Q9NVI7,Q9NQH7,O75381,Q9H0U3,Q9NX14,O75880,Q96CU9,Q9BUB7,O95202,O75648,Q9NPL8,P35610,Q9Y375,Q12769,P51798,Q658P3,P22830,P23458,P11802,P31751,Q9NWS8,Q9UBM7,Q9UGP8,O75306,P08236,Q9Y4P3,P50416,Q01844 86 |
| Abnormal conjunctiva morphology 0.4251598173169491 1.248004426512439 0.2120294361575023 1.0 0.6130201061200121 26 P21912,Q8NBM4,P10619,Q13510,Q14739 5 |
| Fetal ultrasound soft marker 0.4535916647441713 1.2473833105245469 0.2122569830873182 1.0 0.6130201061200121 18 P40855,O96011,O75381,P56589,P61978,P50542,P16435 7 |
| Ureteral duplication 0.5550235925265677 1.244689220597189 0.2132460098226514 1.0 0.613418913301423 9 Q96J42,O75844,P23786 3 |
| Infantile muscular hypotonia 0.3539248839459619 1.2428492408350238 0.2139233933526896 1.0 0.6137739438584996 66 Q7Z2Z2,Q9H3H5,Q9H936,P00846,Q9Y487,O75306,O43819,P03915,P07602,O95169,Q15043,Q2TAA5,Q9NZJ7,Q13510,P17900,P03886 16 |
| Abnormality of the amniotic fluid 0.3313403376249644 1.2411243893488275 0.2145598010051368 1.0 0.614813753313951 90 Q9BV10,Q9BUB7,P40939,Q14739,Q7LGA3,O75844,Q9UM00,Q70HW3,P51798,Q9BT22,Q9UHX1,P23786,Q9NVI7,Q6NUK1,P04062,P21964,Q969X5,Q96J42,P16435 19 |
| Abnormal meningeal morphology 0.4360437044456293 1.2400553891257142 0.2149549078241095 1.0 0.6151926218926108 23 O75845,Q10713,Q9UHX1,P21964,Q8TAA9,Q9NQH7 6 |
| Schistocytosis 0.7151199527964658 1.236044431914004 0.2164420483009865 1.0 0.6181829134551367 4 O75845 1 |
| Mandibular aplasia 0.8075607449464821 1.2357825315498523 0.2165394098855291 1.0 0.6181829134551367 3 P53701 1 |
| Fatigue 0.3392663336801386 1.2325512943751828 0.2177432180237353 1.0 0.6199240166889959 82 P21912,P04062,Q8NBM4,Q658P3,Q13423,O60313,Q53H12,Q4J6C6,P12235,P07602,O15460,P35637,Q9NZJ7,Q70HW3,Q92804,P50416,Q14739,Q15165 18 |
| Abdominal distention 0.4389698440383119 1.232498222439514 0.2177630302310234 1.0 0.6199240166889959 22 Q7RTS9,Q9UGP8,P04062,O43681,P07602,O75648,Q9NZJ7 7 |
| Intestinal pseudo obstruction 0.5313673792310523 1.229865859177966 0.2187473408212308 1.0 0.6199240166889959 11 P03886,P00403 2 |
| Poikiloderma 0.71357105263093 1.2294139582808483 0.2189166394857351 1.0 0.6199240166889959 4 O75431 1 |
| Abnormal circulating proteinogenic amino acid derivative concentration 0.4268879544545643 1.2277966161257143 0.2195233262767937 1.0 0.6199240166889959 25 Q5XKP0,P00846,O95298,O96000,Q9P0J0,P03915,P03886,O75880 8 |
| Amelogenesis imperfecta 0.7384230287859779 1.2269292687917053 0.2198491766439203 1.0 0.6199240166889959 2 Q13586 1 |
| Abnormality of skin pigmentation 0.3124241329959281 1.2267744605337183 0.2199073724449483 1.0 0.6199240166889959 132 Q7LGA3,P21912,P04062,P53701,Q14739,P00403,O75844,P21964,P07602,P51648,Q9NZJ7,P03886,Q06136,P16615 14 |
| Basal ganglia gliosis 0.5412619110519208 1.2257367976414788 0.2202977379451964 1.0 0.6199240166889959 10 P00846,O75306,O43819 3 |
| Limb girdle muscle weakness 0.4222018034851303 1.223466332909048 0.2211536127208391 1.0 0.619970214190697 26 Q9H3H5,O14979,O60313,P12235,O75340,P07602,P51530,Q9NZJ7 8 |
| Muscle fiber atrophy 0.4445686312593909 1.2229199158671318 0.2213599455294588 1.0 0.619970214190697 20 Q13586,P50402,Q9BTV4,Q99720,Q96RL7,P35637,P23786,P61978,P54098,P22626 10 |
| Abnormality of the alveolar ridges 0.6432606064166182 1.2216872604308386 0.2218259157186728 1.0 0.620046079452236 6 P17302,Q9UBM7,Q15392 3 |
| Anophthalmia 0.5036613753245605 1.2136873151532137 0.224867150073045 1.0 0.6239598358415829 13 O43505,P52732,P53701,Q9NX14,Q96J42,Q9H5K3 6 |
| Severe muscular hypotonia 0.4071279789567971 1.213329438163528 0.2250038921748105 1.0 0.6239598358415829 29 O43505,P40855,O96011,Q9NWS8,O75746,O75381,Q12756,Q9NWM8,P53007,P56589,O95831,Q08209,Q5H8A4,Q01105 14 |
| Inappropriate behavior 0.448248476117337 1.209626767591058 0.2264221420841137 1.0 0.624952224734427 17 P07602,Q9NZJ7 2 |
| Malabsorption 0.3557295275397207 1.208051793962157 0.2270273404605511 1.0 0.625601257457294 55 Q9UJW0,P14174,Q8NBM4,Q08J23,Q14739,Q14566,P40855,Q7Z2Z2,P09601,Q96A33,P56589,P42345,Q9NZ08,P50542,Q15056,P18074,Q9Y6B6,O96011,O75381,Q9Y4P3,P54098,O76024 22 |
| Limited wrist movement 0.6387607189325608 1.2006092893364395 0.2299027959578388 1.0 0.628310407311901 6 O75844 1 |
| Abnormal pelvis bone morphology 0.7987480438184549 1.2001909029624165 0.230065207549192 1.0 0.628310407311901 3 Q7RTS9,P16435 2 |
| Nonimmune hydrops fetalis 0.41932184940278 1.1995411319434808 0.2303176010668275 1.0 0.628310407311901 26 P04062,Q9BT22,O96000,Q14739 4 |
| Prenatal movement abnormality 0.352081644854203 1.1994028473938576 0.2303713409611509 1.0 0.628310407311901 63 P40855,Q16637,Q9H3H5,Q9UBM7,P04062,Q7KZN9,O75844,Q4J6C6,Q969X5,P56589,O95202,P51530,Q9HC21,Q9UM00,Q70HW3,Q5H8A4 16 |
| Stillbirth 0.5364658246183721 1.1986889501775075 0.2306489162257627 1.0 0.6285695646501094 10 P04062,Q14739,O75844 3 |
| Nyctalopia 0.3740162176173314 1.1976541985627671 0.2310516669406681 1.0 0.6285695646501094 37 P40855,Q9H3H5,Q86SQ9,O75381,P38435,Q10713,Q96S66,Q13432,P56589,Q96HR9,Q8TC12,P40939,Q9Y287 13 |
| Short ribs 0.5562762098689751 1.1974365818313109 0.2311364322668936 1.0 0.6285695646501094 8 Q7Z4L5,Q14739 2 |
| Lower limb hyperreflexia 0.4466152082327156 1.196797397808205 0.2313855327869654 1.0 0.628830670954849 18 Q14739,P13073,P21912 3 |
| Chordee 0.5964206762522265 1.1961544119116143 0.2316363072921363 1.0 0.6288451756437579 7 Q9NX14,P53701 2 |
| Abnormal circulating bilirubin concentration 0.4097679644684779 1.1941787575984748 0.2324080506483636 1.0 0.6292714439046083 28 P41440,P40855,Q9NSD9,P28288,O75845,Q9UGP8,Q9UJS0,P55263,P36551,P23786,O75648,Q14739 12 |
| Abnormality of prenatal development or birth 0.2980450571484033 1.193432080479607 0.2327001972750833 1.0 0.6294169444595228 246 Q96CU9,Q9H3H5,Q16637,Q7KZN9,O96000,Q9Y487,Q10469,Q9BV10,Q9Y6M9,Q9BUB7,Q8TAA9,O95202,Q9HC21,O43676,P40939,P03886,Q86Y39,Q14739,Q5H8A4,Q7LGA3,P40855,Q9NPL8,Q9NXE4,O60313,O75844,P29084,Q4J6C6,O15118,P56589,P17302,Q9UM00,Q70HW3,O75718,Q9NSD9,Q9Y375,P51798,Q9BT22,Q9UHX1,P23786,Q9NVI7,Q6NUK1,O75381,Q9UBM7,P04062,P10619,P50416,O75306,P21964,Q969X5,P51530,P08236,Q9Y4P3,Q13510,Q9NX14,Q96J42,P16435 56 |
| Decreased cd4 cd8 ratio 0.7050563186553525 1.1929672711254908 0.2328821911893408 1.0 0.6295375811383833 4 Q13432 1 |
| Deposits immunoreactive to beta amyloid protein 0.7302878598248035 1.1903907119830104 0.2338928619169711 1.0 0.630781102591855 2 O96008 1 |
| Decreased circulating aldosterone level 0.7299749687109143 1.188986760035111 0.2344448770142422 1.0 0.6312224239136283 2 Q13423 1 |
| Butterfly vertebrae 0.7037419680386201 1.1873422037557737 0.2350926673988926 1.0 0.6317856903353233 4 O75845 1 |
| Meningitis 0.5540898267928344 1.1857387276053903 0.2357254954210343 1.0 0.6323736651166156 8 Q8TAA9,O15460,Q8NBM4 3 |
| Severe short stature 0.4253023794994024 1.1836046413614187 0.2365696022567476 1.0 0.6331553256661318 24 Q7RTS9,P21912,P10619,P53701,Q15392 5 |
| Abnormality of the umbilical cord 0.6345362025415162 1.180814244443396 0.2376765240935987 1.0 0.6346351010471267 6 O75844 1 |
| Genetic anticipation 0.7277847309136534 1.179162222453835 0.2383335857380804 1.0 0.6349095871232672 2 Q9UBB4 1 |
| Low back pain 0.7277847309136369 1.1791622224537608 0.2383335857381099 1.0 0.6349095871232672 2 Q8WVX9 1 |
| Severe lactic acidosis 0.7930265973684245 1.1771064675538383 0.2391530140001088 1.0 0.6360852824420473 3 Q70HW3 1 |
| Decreased circulating progesterone 0.6712022042884924 1.1766625751484168 0.2393302110279549 1.0 0.6360852824420473 5 P16435,P49770,Q13144 3 |
| Abnormal circulating progesterone level 0.6712022042884924 1.1766625751484168 0.2393302110279549 1.0 0.6360852824420473 5 P16435,P49770,Q13144 3 |
| Progressive 0.3102068335511914 1.1759124439207282 0.2396298656840663 1.0 0.6365124896025459 112 Q16637,Q13126,Q99720,Q9Y6M9,O95470,O75298,Q8NBU5,Q5XKP0,P39210,P55263,O60313,P12235,Q9Y4W6,P15586,Q12769,O14653,P61619,Q15043,Q9H0B6,P04062,P27544,Q13510,Q9NR28 23 |
| Increased connective tissue 0.5520900588398685 1.175035098187058 0.2399806741888532 1.0 0.6370749994978712 8 O95831,P31751,P07196,O75431 4 |
| Abnormal anatomic location of the heart 0.5097935479273645 1.1745108792241918 0.2401904569090422 1.0 0.637153340014413 12 Q10713,O75844 2 |
| Abnormal muscle fiber protein expression 0.6331390820794753 1.174266503149359 0.240288295841315 1.0 0.637153340014413 6 Q9H5K3 1 |
| Decreased number of large peripheral myelinated nerve fibers 0.6327675222129902 1.172525068338723 0.2409863135801178 1.0 0.6382654848694218 6 P07196,Q8TB36,O15269 3 |
| Hypoplastic vertebral bodies 0.6321797461145574 1.1697702004448252 0.2420934588395804 1.0 0.639718701501129 6 Q14739 1 |
| Epispadias 0.7905067459432598 1.166946328214058 0.2432320450497913 1.0 0.6418700885609006 3 P53701 1 |
| Broad phalanx of the toes 0.6688232941606259 1.1660597396613683 0.2435902928784894 1.0 0.6418700885609006 5 Q7LGA3 1 |
| Morphological abnormality of the corticospinal tract 0.4699157044122821 1.1660158189223906 0.2436080497615464 1.0 0.6418700885609006 15 P35637,P00846,O75298 3 |
| Abnormality of the basal ganglia 0.3282046229117032 1.1639808948374806 0.2444317543164094 1.0 0.6433741840230928 88 Q96CU9,Q08J23,Q7KZN9,Q96RL7,Q9BPX6,Q9ULK4,Q96N66,P03886,Q96AA3,Q8WWI5,P00403,Q8N183,O60313,Q9P0J0,O75340,P17302,Q96DP5,Q9NZ01,O00483,P03915,Q8NI60,P23786,O95831,P00846,P04062,O75306,O43819,O95169,Q96DA6 29 |
| Macrogyria 0.5899753728134622 1.1639118821428107 0.2444597237852912 1.0 0.6433741840230928 7 Q15392,Q9H5K3 2 |
| Corneal dystrophy 0.6966183480384824 1.1568627505509024 0.2473284394716306 1.0 0.6486163289165621 4 P12235 1 |
| Vitritis 0.6964737594509325 1.1562442741393222 0.2475812549004858 1.0 0.6486163289165621 4 Q9NX14,P53701 2 |
| Premature birth 0.3593163876576953 1.1550467824891677 0.2480712692769395 1.0 0.6492217408820532 44 P40855,Q9NXE4,P51798,O75381,Q9UBM7,P04062,O75844,Q9BV10,Q9BUB7,O43676,Q9NX14 11 |
| Abnormal oral mucosa morphology 0.350074365645492 1.154980316214849 0.2480984871856122 1.0 0.6492217408820532 59 O75431,Q8NBM4,Q10469,Q15392,Q14739,Q13546,Q7Z2Z2,Q14108,Q9UM00,Q9NZ08,Q15056,O75845,Q9UBM7,P04062,P08236,Q9Y4P3,P53634,Q5JRA6,P49257 19 |
| Incomplete penetrance 0.3812638392564843 1.152348016169334 0.2491780932773617 1.0 0.6513029226451064 33 O14979,P00846,P21912,Q9UBB4,O60313,P03915,P36551,Q8NFG4,P03886,Q3ZAQ7 10 |
| Retrocollis 0.786228482003114 1.149706849385039 0.2502646323147379 1.0 0.6518665433149651 3 P35637,Q99720 2 |
| Oligohydramnios 0.3853673546524703 1.1488777304916806 0.2506064015762221 1.0 0.6518665433149651 32 Q9UHX1,Q969X5,P23786,Q96J42,Q6NUK1,P16435,Q7LGA3 7 |
| Ankylosis 0.6645989408955192 1.1472331007726626 0.2512852946285639 1.0 0.652019924178761 5 O75844 1 |
| Broad palm 0.6272023859689444 1.1464390546953642 0.2516135308880711 1.0 0.652019924178761 6 P51812,Q7RTS9,Q14739 3 |
| Abnormality of the liver 0.2907726197779213 1.145657425237389 0.251936926429505 1.0 0.652019924178761 305 P14174,O75431,O96000,Q15904,O43676,P03886,Q86Y39,Q7Z2Z2,Q8WWI5,Q8N511,Q5XKP0,P55263,P09601,P56589,P36551,Q9Y276,P20674,Q9NSD9,Q86SQ9,Q9NZJ7,P00846,P21912,P04062,Q10713,P21964,P07602,Q13510,Q96J42,Q9H3H5,Q7KZN9,Q9Y6M9,Q9HC21,Q14739,Q5H8A4,Q96AA3,P40855,P39210,Q96A33,Q14108,Q7Z4L5,O75845,Q9BT22,P03915,P10619,Q15067,P40939,P12235,O15118,O75340,Q16836,O43681,P23786,Q9NVI7,O75381,Q9H0U3,Q9NX14,O75880,Q96CU9,Q9BUB7,O95202,O75648,Q9NPL8,P35610,Q9Y375,P51798,Q658P3,P22830,P23458,P31751,Q9NWS8,Q9UBM7,Q9UGP8,O75306,P08236,Q9Y4P3,P50416,Q01844 77 |
| Osteopenia 0.3381812163502948 1.145025554583139 0.2521985717375539 1.0 0.652019924178761 76 O75431,Q13126,Q9Y487,O43292,Q10469,O15228,P61978,Q7Z2Z2,O75844,P29084,Q14108,O75718,Q9NSD9,Q15056,Q9Y5U9,Q9H490,Q9NWM8,Q9NZJ7,Q32P28,P04062,P07602,Q9Y4P3,Q5JRA6 23 |
| Fetal akinesia sequence 0.5861907161534077 1.1449690423993273 0.2522219815553477 1.0 0.652019924178761 7 P04062 1 |
| Pulmonary hypoplasia 0.4167244203858256 1.1447347904380227 0.2523190351149127 1.0 0.652019924178761 25 Q9H3H5,O96000,O75844,Q6NUK1,Q8TAA9,Q14739 6 |
| Abnormal systemic blood pressure 0.3197493289769872 1.1444411938097927 0.2524407126785513 1.0 0.652019924178761 94 P42892,P21912,P04062,P00403,Q10713,O75844,Q13423,P21964,P03915,P07602,O43681,Q9BUB7,Q8TAA9,Q9NZJ7,P03886,P16435,Q9NQH7 17 |
| Ascites 0.4126584724800281 1.1440633583633837 0.2525973621725741 1.0 0.6520569653378786 26 P04062,O15118,P08236,Q14108,Q13510,Q14739,Q01844 7 |
| Elevated circulating long chain fatty acid concentration 0.7839312466974722 1.1404560160981692 0.2540963670945828 1.0 0.6531005112994125 3 P40855 1 |
| Type ii transferrin isoform profile 0.692571277943062 1.1395545985594318 0.254471909417024 1.0 0.6531005112994125 4 Q10469 1 |
| Microretrognathia 0.4658785867979174 1.1390760629830354 0.2546714304175728 1.0 0.6531005112994125 15 Q8NCH0,Q8WVQ1,Q9BUB7,P53007,Q9UHX1,Q15738 6 |
| Generalized edema 0.6924365838366354 1.138978671722266 0.2547120501292121 1.0 0.6531005112994125 4 Q9NSD9,Q9H3H5 2 |
| Plantar hyperkeratosis 0.3842731905267705 1.138634356896746 0.2548556922508271 1.0 0.6531033455779027 32 P42167,P21912,P16615 3 |
| Progressive cerebellar ataxia 0.3638526595380603 1.1352499851777842 0.2562705914887551 1.0 0.6540781674657561 40 Q96CU9,P41440,O14773,Q9BUK6,Q9Y487,Q7KZN9,Q9UBB4,O75306,O15020,Q9P0J0,Q8NI60,P35637 12 |
| Duplication involving bones of the feet 0.4352269235768007 1.1320079364054694 0.2576310978146943 1.0 0.6557132316706906 19 Q7Z4L5,Q10713,P21964,Q96J42,Q14739 5 |
| Hyperthyroidism 0.5245564727482928 1.1313987673782184 0.2578872900780693 1.0 0.6557132316706906 10 P21964,P12235 2 |
| Abnormal circulating carbohydrate concentration 0.3633514550697618 1.1300555709596916 0.258452809218632 1.0 0.6557461722159479 40 Q96CU9,Q9NPL8,Q9Y375,P21912,O96000,Q9Y6M9,O43676,Q70HW3,Q9NX14,P03886,Q86Y39 11 |
| Progressive sensorineural hearing impairment 0.502277786723567 1.1293741385367164 0.2587400376746638 1.0 0.6557461722159479 12 P03915,P03886,P00403 3 |
| Prominent superficial blood vessels 0.5021705579746751 1.1287296219862324 0.2590119093245668 1.0 0.6557461722159479 12 Q9Y487,O75844 2 |
| Joint contracture of the 5th finger 0.716207759699625 1.127334280339823 0.2596011738546553 1.0 0.6557610956567611 2 P17302 1 |
| Retinal atrophy 0.4019228800062781 1.1263374518118 0.2600227109962474 1.0 0.6557610956567611 28 P04062,Q10713,Q8TC12,Q96HR9,P51648,O75648,Q7LGA3 7 |
| Abnormality of the supraorbital ridges 0.4216453705587636 1.126289045321883 0.2600431931052673 1.0 0.6557610956567611 23 P40855,O96011,P52732,O75381,Q08J23,P51812,P56589,Q6NUK1,P16435 9 |
| Opsoclonus 0.7803077169175514 1.1258735341007395 0.2602190531949748 1.0 0.655843620318688 3 P04062 1 |
| Absent brainstem auditory responses 0.7801371131840205 1.1251872521377069 0.2605096939215374 1.0 0.6562151828193977 3 O60313 1 |
| Neurogenic bladder 0.5233140655100412 1.124370164299805 0.2608560237856259 1.0 0.6567265390031526 10 Q8N5K1,Q8TAA9,P56589,P17302,Q96DP5,O76024 6 |
| Abnormal ossification involving the femoral head and neck 0.6887107428695793 1.1230511955447695 0.2614157519719766 1.0 0.657518346750161 4 Q14739 1 |
| Abnormal echocardiogram 0.658857107407509 1.1216490549682057 0.2620116854804952 1.0 0.6581406984291094 5 P54098,P49748,P12235 3 |
| Absence of subcutaneous fat 0.5807891262252917 1.1179237747568225 0.2635995500258019 1.0 0.6582555597179514 7 O75844 1 |
| Abnormal renal cortex morphology 0.34692089565139 1.1175686791090833 0.2637512519420635 1.0 0.6582555597179514 59 O75431,Q12769,P00846,P00403,Q8NBM4,P61619,P21912,P03915,Q14108,P03886,O95470,P23458,Q9NQH7 13 |
| Skeletal muscle hypertrophy 0.3574284666473096 1.1164604414149175 0.2642250940998718 1.0 0.6586938961728035 43 Q15056,P21912,Q96A33,O00170,Q10713,Q9NR77,Q8NCE2,Q96S52,P10253,O75648,P61978,Q9Y4P3,Q9H5K3,Q7LGA3 14 |
| Abnormality of hindbrain morphology 0.2924891167327664 1.1151964049224383 0.2647662663247507 1.0 0.6591139751753486 281 O43505,Q96CU9,Q9H3H5,Q9BUK6,Q99720,Q9Y487,O43292,Q9BV10,O15020,Q8TAA9,O95202,Q9HC21,O75648,Q8N2K0,Q5H8A4,P41440,O75503,Q8WWI5,Q9NXE4,Q5XKP0,Q9C0E8,P51572,Q8IV08,O60313,P46977,P29084,P12235,P17302,Q14108,Q9Y276,Q9UM00,Q8TCJ2,Q9Y4W6,Q9H5K3,Q8N0X7,Q86SQ9,Q9H936,Q9H490,O75845,Q96JX3,P51798,Q9BT22,Q9UBB4,P13073,Q8NI60,Q15043,P23786,Q92643,Q9NVI7,Q6NUK1,P00846,O14773,Q6DKK2,P21912,Q9UBM7,P51812,Q10713,P15291,Q9Y320,P35637,Q9Y4P3,Q9H6K4,Q96J42,P16435 64 |
| Thoracic hypoplasia 0.3959101235830187 1.1144232013568292 0.2650976744304443 1.0 0.6591139751753486 29 Q7Z4L5,P51798,P04062,Q96A33,Q9UHX1,Q9UM00,Q14739,P16435,O75718 9 |
| Hepatic cysts 0.6571060812057599 1.113848844866569 0.2653440382484542 1.0 0.6591139751753486 5 Q7Z4L5,P23458 2 |
| Paraplegia 0.3471784980533433 1.111069544277137 0.2665384159567321 1.0 0.6591139751753486 56 Q96CU9,P49902,Q8N0X7,Q9H0B6,P00846,P04062,Q7KZN9,Q9P0J0,O75298,Q9BRK0,Q15041 11 |
| Hypoketotic hypoglycemia 0.5305835874640135 1.1103806176540574 0.2668350467712659 1.0 0.6591139751753486 9 P31751,Q16836,P23786,P40939 4 |
| Axonal degeneration 0.5791787516303515 1.1098592314780522 0.2670596906786016 1.0 0.6591139751753486 7 Q9BQT8,Q6DKK2 2 |
| Abnormal macrophage morphology 0.6847140148125073 1.1059742231255965 0.2687376765478753 1.0 0.660598730655775 4 Q13510 1 |
| Aplasia hypoplasia of toe 0.3635793332815764 1.1047763317725043 0.2692565185933915 1.0 0.6607635189979043 38 P13073,Q9UHX1,Q9NX62,Q13510,Q5H8A4 5 |
| Abnormality of acid base homeostasis 0.2892426566732101 1.1037353587195566 0.269707952670656 1.0 0.6607635189979043 180 Q96CU9,O95298,Q7KZN9,O96000,Q9Y6N5,Q9Y6M9,Q9BUB7,O14949,Q9HC21,O43676,O75648,P40939,P03886,Q86Y39,Q9NPL8,Q5XKP0,P39210,P00403,P35610,Q6P4A7,Q9P0J0,P12235,Q86VD7,Q70HW3,O14678,Q16836,Q9UBX3,Q9Y375,Q96JX3,P13073,P03915,Q8NI60,P23786,Q9NVI7,Q9NWS8,P00846,P21912,Q53H12,Q10713,O75306,O43819,Q9NX14,O75880 43 |
| Fractures of the long bones 0.6837503465402344 1.1018582045967322 0.270523321410743 1.0 0.6614552400358585 4 P51798 1 |
| Adult onset 0.3398774737556724 1.101843517736833 0.2705297075135746 1.0 0.6614552400358585 70 Q16637,O14979,Q13586,Q14566,P41440,Q8IV08,P12235,O15118,P36551,P38435,Q9NZJ7,P31751,Q9UGP8,P21912,P04062,Q9Y6M1,Q9H0U3,Q9NQZ5,P07602,Q9NWW5 20 |
| Foot acroosteolysis 0.6835800954735827 1.101131092435779 0.2708396065564376 1.0 0.6615069708110858 4 O75431,O75844 2 |
| Osteolysis involving bones of the feet 0.6835800954735827 1.101131092435779 0.2708396065564376 1.0 0.6615069708110858 4 O75431,O75844 2 |
| Low frustration tolerance 0.5281347204368965 1.096892554306418 0.2726883639568291 1.0 0.6638151309243706 9 Q9UHX1 1 |
| Abnormal joint morphology 0.292020188637813 1.094591506637122 0.2736956382071422 1.0 0.6649381835976277 276 P49902,P14174,Q9H3H5,O75431,P50402,Q8NBM4,Q9Y487,Q15392,Q9BV10,Q9BUB7,Q8TAA9,O95202,P51571,Q14739,O75298,Q15041,Q7LGA3,Q8NBU5,Q7RTS9,Q96A33,O75844,Q9NR77,O15269,P29084,O75340,Q14108,Q8N0X7,P51798,P38435,P61619,Q8NCH0,Q86XL3,Q9UHX1,Q96PU5,Q15043,P23786,Q9NZJ7,P37268,O15460,P42892,Q9UBM7,P21912,P04062,P21964,Q969X5,P07602,P08236,Q9NX62,Q9Y4P3,Q13510,Q9H6K4,P49257,P16435 53 |
| Hypotension 0.4065653682764671 1.0932002372010257 0.2743058929288906 1.0 0.6650103711112046 26 P04062,O43681,P07602,Q9NZJ7,Q13423 5 |
| Progressive spastic paraplegia 0.3883860115537804 1.090530944248553 0.2754793299834861 1.0 0.6659159543174236 30 Q7KZN9,Q9H0B6,P00846,O75298 4 |
| Abnormality of the septum pellucidum 0.3564557406608301 1.089080290608243 0.2761184805418282 1.0 0.6659159543174236 42 Q9NX14,P53701,Q15392,Q9BV10,O95202,Q96N66,Q9NZ01,Q9H5K3 8 |
| Radioulnar dislocation 0.771073587642733 1.0887695210741288 0.2762555354331857 1.0 0.6659159543174236 3 P16435 1 |
| Abnormality of the radioulnar joints 0.771073587642733 1.0887695210741288 0.2762555354331857 1.0 0.6659159543174236 3 P16435 1 |
| Recurrent fever 0.4449382327252416 1.0874248715671928 0.2768490843166193 1.0 0.6659159543174236 16 Q13586,P51572,Q9NR77,Q13510,P61978 5 |
| Skin rash 0.4291783660462815 1.0872063816935384 0.2769456111156922 1.0 0.6659159543174236 19 Q7Z2Z2,P14174,P21912,P17302,Q14739,Q06136 6 |
| Cns hypomyelination 0.3601133559986212 1.0824308889729026 0.2790611090945436 1.0 0.6659159543174236 39 Q9H3H5,Q9NWS8,Q9NXE4,Q99720,P51572,P49770,O75340,Q8TB36,P35637,Q5T8D3,Q13144 11 |
| Abnormality of the musculature of the thigh 0.5729984402155494 1.07890572140291 0.2806297580548706 1.0 0.6680135148011025 7 P07196,O14979,P50402 3 |
| Steroid resistant nephrotic syndrome 0.6492495208529718 1.0788663330388388 0.2806473190729206 1.0 0.6680135148011025 5 Q8N1F7,Q12769 2 |
| Hypoproteinemia 0.7680751173708704 1.076741224357753 0.2815958898524444 1.0 0.6692587354720663 3 Q9H3H5,P49748 2 |
| Confusion 0.4432668928339126 1.0758052350158025 0.2820143705267046 1.0 0.6692587354720663 16 O96008,Q8NBM4,P36551,P40939,Q16836 5 |
| Equinovarus deformity 0.612025191436281 1.0752952195111154 0.2822425758193052 1.0 0.6692587354720663 6 Q969X5,P40939 2 |
| Glomerulopathy 0.5047051204870648 1.074883327569594 0.2824269673189159 1.0 0.6692587354720663 11 Q14108,Q8NBM4 2 |
| Proximal muscle weakness in lower limbs 0.426730833384768 1.069055011553674 0.2850448818459536 1.0 0.6718496134867077 19 Q16637,P50402,Q9BTV4,P07196,P12235,Q8NCE2,P36551,Q3ZAQ7 8 |
| Arthrogryposis multiplex congenita 0.3611400196625816 1.0678369647906 0.2855940606517757 1.0 0.6724360970720813 37 Q96AA3,P04062,Q8NCH0,O75844,Q969X5 5 |
| Ridged nail 0.6103287669560874 1.0673458488358292 0.2858156915113428 1.0 0.6724360970720813 6 P16615 1 |
| Generalized hyperpigmentation 0.4916788846853336 1.065608057985467 0.2866008550910641 1.0 0.6730933459903926 12 P51648 1 |
| Increased intramyocellular lipid droplets 0.6097210490266984 1.064498359010192 0.2871029973931756 1.0 0.6739272203153333 6 Q8NI60,Q9Y4W6,Q9BUK6 3 |
| Chronic hepatic failure 0.6746545670634545 1.0630420610629403 0.2877628773738543 1.0 0.6745907050875278 4 Q10713 1 |
| Decreased plasma carnitine 0.4912291282570957 1.0628999393844505 0.2878273305207588 1.0 0.6745907050875278 12 P40939,Q16836,P23786,O75880 4 |
| Abnormal circulating acetylcarnitine concentration 0.569619736572486 1.0619835103856323 0.2882431711303552 1.0 0.6749367845772605 7 P40939,Q16836 2 |
| Bone fracture 0.5309915111888825 1.0619253061271023 0.2882695956826056 1.0 0.6749367845772605 8 P51798,Q13126 2 |
| Infantile spasms 0.3756211224040309 1.0574613426536852 0.2903010883380998 1.0 0.678306775504933 32 Q9UBX3,P00846,P03915,O75340,Q13510,P03886 6 |
| Premature rupture of membranes 0.6080308929283935 1.056579827090883 0.290703391142288 1.0 0.6785547316423657 6 O75844 1 |
| Decreased adipose tissue 0.4530886477329982 1.0535452133593692 0.2920911836698108 1.0 0.6796271748275224 15 Q6NUK1,O75431,P29084,O75844 4 |
| Decreased specific antibody response to protein vaccine 0.7620857759919333 1.052748212106625 0.2924564058574315 1.0 0.6796271748275224 3 Q9BV10 1 |
| Abnormality of muscle size 0.2894335221673874 1.04988082293962 0.2937729095356347 1.0 0.6806210821837677 203 O43505,Q16637,O14979,Q13586,Q13126,P50402,Q9BUK6,Q99720,Q9BTV4,P07196,Q9Y487,Q96GM8,Q96RL7,P10253,Q9HC21,P61978,O75648,Q8N2K0,O75298,Q7LGA3,P46020,Q9NPL8,P39210,P55263,P13473,Q96A33,O60313,Q9NR77,O15269,Q6P4A7,P12235,Q96B26,Q8TB36,P22626,Q9Y4W6,Q9H5K3,Q8N0X7,Q15056,Q9BQT8,Q9NWM8,O00170,O95831,Q9NVI7,Q15165,Q3ZAQ7,Q9H0B6,Q6DKK2,P21912,P51812,Q10713,P50416,Q8NCE2,Q969X5,Q96S52,Q96BR5,Q96DA6,P51530,O43819,Q13510,Q92804,P35637,Q9Y4P3,P51970,P54098 64 |
| Asymmetric septal hypertrophy 0.6986858573216564 1.0493001595880576 0.2940399925989827 1.0 0.6806210821837677 2 P15586 1 |
| Cachexia 0.4262957537651631 1.0487245841117472 0.2943048960805823 1.0 0.6806210821837677 18 P04062,P07602,Q9NZJ7 3 |
| Dysesthesia 0.6061525054403311 1.047780888121448 0.2947395698618962 1.0 0.6806210821837677 6 Q8NCH0 1 |
| Lissencephaly 0.3421683059114723 1.0475760646617214 0.2948339699483175 1.0 0.6806210821837677 49 O43505,Q9H936,Q9NWS8,Q16134,Q9Y487,Q86XL3,Q15392,Q9BV10,Q9Y320,Q9HC21,P23786,Q00535,Q9H5K3 13 |
| Intellectual disability progressive 0.4885769422678255 1.0469274922964256 0.2951330209375957 1.0 0.6806210821837677 12 Q9NX14,P53701,Q15067 3 |
| Motor deterioration 0.6049394146122806 1.0420993189142125 0.2973656343272244 1.0 0.6840006709273806 6 Q9NWW5,P21912 2 |
| Headache 0.3336691069100697 1.0415482162625165 0.297621187719516 1.0 0.6840944537355569 72 Q12769,P00846,P00403,Q9Y6N5,Q8NBM4,P21912,O60313,P04062,P12235,P03915,Q8TAA9,Q9NQZ5,P23786,P03886 14 |
| Endocarditis 0.6047831557243074 1.0413675289087705 0.2977050067107596 1.0 0.6840944537355569 6 P04062,Q8NBM4 2 |
| Abnormal cranial nerve physiology 0.3302611468720355 1.0407033782711708 0.2980132348524902 1.0 0.6844594697213585 76 Q9H3H5,Q8NBM4,P07196,P40855,Q9NR77,P12235,O75340,P56589,P17302,P51798,Q9UHX1,Q15043,Q9NZJ7,O75381,P21912,P51812,O43819,P07602,P51530,Q13510 20 |
| Thoracolumbar kyphoscoliosis 0.6964956195244311 1.0395879536245969 0.298531375957543 1.0 0.6849109041920552 2 Q10469 1 |
| Respiratory arrest 0.5267782413060567 1.0393150774355293 0.2986582249183165 1.0 0.6849109041920552 8 P13473,P23786,P49748 3 |
| Hypoglycemic coma 0.5172365687853043 1.0368324391261925 0.2998139546335765 1.0 0.6866863927432324 9 P31751,P00367,P40939,Q13423,Q16836 5 |
| Recurrent pharyngitis 0.7579891702754058 1.0363649871222014 0.3000318983570387 1.0 0.6866863927432324 3 Q9BV10 1 |
| Plagiocephaly 0.3732427613757484 1.035099947525977 0.3006222370820239 1.0 0.6873508434679809 32 Q969X5,Q96A33,Q10713,Q01105 4 |
| Cystic hygroma 0.5258308303989736 1.034230627107941 0.3010283593629905 1.0 0.6875931917254351 8 Q99567,P22681,Q96S52,P61978,Q14739 5 |
| Cholecystitis 0.5257088181481752 1.0335758249968354 0.3013345058728331 1.0 0.6878619046127584 8 P07602,Q9NZJ7 2 |
| Lower limb hypertonia 0.507239956127584 1.033336937285766 0.3014462471546091 1.0 0.6878619046127584 10 P21912 1 |
| Optic nerve hypoplasia 0.4237555187983267 1.032701047766339 0.3017438230686509 1.0 0.6880050016672106 17 P37268,Q9H5K3,Q9UHX1 3 |
| Short nail 0.6377879820403735 1.0278991383646905 0.3039972749191961 1.0 0.6905828246181508 5 O75844 1 |
| Hydranencephaly 0.6936795994993677 1.0271164521631917 0.3043656325781121 1.0 0.6905828246181508 2 O43175 1 |
| Paralysis 0.3402056170892186 1.0250537973544942 0.3053378043309032 1.0 0.6908668969954612 53 P50402,P51798,Q9BTV4,P21912,P04062,Q9NR77,Q8TB36,P36551,P10253,Q9HC21,P35637,P17900,Q92804,Q15165 14 |
| Premature loss of teeth 0.4732744203167546 1.024758490362481 0.3054771569866443 1.0 0.6908668969954612 13 P17302,O75844,P51798,Q5JRA6 4 |
| Hemiparesis 0.4356177092505195 1.022575334688682 0.3065086766021716 1.0 0.692334868303554 16 P00403,Q8NBM4,O60313,P03915,P03886 5 |
| Iris coloboma 0.3566538020794785 1.0224255370754354 0.3065795390196226 1.0 0.692334868303554 37 Q9UBM7,P53701,Q10713,Q9UHX1,O75340,O95202,Q9NX14,Q5H8A4,Q9H5K3 9 |
| Skin nodule 0.4116947890283158 1.020274444508874 0.3075983198391259 1.0 0.6926375920174864 22 P11802,P21912,Q8NBM4,P35637,Q13510,P16615 6 |
| Retinal detachment 0.4723960821097505 1.0192831554161703 0.3080685585487184 1.0 0.6926375920174864 13 O43505,Q8NCH0,Q9BV10,P04439,Q9H5K3 5 |
| Failure to thrive 0.2845063799039404 1.0172344889031013 0.3090418927695377 1.0 0.6926375920174864 310 Q96CU9,Q9H3H5,Q7KZN9,O96000,Q9Y487,Q15392,Q9BV10,Q10469,Q9Y6M9,Q15067,Q9BUB7,Q15904,O95202,P51571,O43676,O15228,P40939,P03886,Q86Y39,Q14739,Q5H8A4,Q13423,O75352,Q96AA3,P40855,Q15800,Q7RTS9,Q5XKP0,P39210,Q9NPL8,P00403,Q7Z2Z2,P51572,P55263,O75844,P46977,P12235,Q9P0J0,Q4J6C6,Q3ZCQ8,P56589,P17302,Q9Y276,Q8TCJ2,Q16836,P20674,Q9NSD9,Q9H936,Q9BQT8,Q9Y375,Q96JX3,O75845,P13073,P03915,Q2TAA5,Q9NZJ7,P37268,Q6NUK1,P23458,P42892,P00846,O75381,Q9UBM7,P21912,P04062,P53701,O75306,P21964,O43819,P07602,Q9Y4P3,Q13510,Q9NX14,Q8N5M9,O75880 75 |
| Submucous cleft of soft and hard palate 0.4112780233017454 1.017017978279499 0.3091448769486817 1.0 0.6926375920174864 22 O75844,Q9H5K3,Q7LGA3 3 |
| Postural instability 0.4215754707536167 1.0168987157583134 0.3092016143501586 1.0 0.6926375920174864 17 P41440,O75503,P04062 3 |
| Abnormal blood transition element cation concentration 0.4834058737794152 1.0157742745030671 0.3097368891409493 1.0 0.6926375920174864 12 Q658P3,Q9Y487,Q15904,O43819,Q9Y276 5 |
| Status epilepticus with prominent motor symptoms 0.6630692433105752 1.013712929799277 0.3107197525734655 1.0 0.6938498556194499 4 P54098,Q13510 2 |
| Urinary incontinence 0.3444169531381537 1.0121253528081506 0.3114781217327509 1.0 0.6951742590255552 45 Q8WWI5,Q99720,Q9UBB4,P07196,P51812,Q8TAA9,O43681,P07602,P35637,Q9NZJ7,O75298 11 |
| Zonular cataract 0.5032934018072384 1.0109702100795257 0.312030688008035 1.0 0.6959761046393534 10 Q9H6K4,Q8WWV3 2 |
| Enlarged ovaries 0.7515690865118809 1.0107393840165155 0.3121411818057336 1.0 0.6959761046393534 3 P21912 1 |
| Epidermal hyperkeratosis 0.7511371816617715 1.0090177655439203 0.3129661141546975 1.0 0.6960371546490539 3 O75844 1 |
| Specific learning disability 0.3343560374400431 1.00811578911958 0.3133988785933566 1.0 0.6960371546490539 67 O43505,Q9NSD9,Q8N0X7,O75845,P00403,P53701,Q10713,Q9BPX6,P21964,P00367,P03915,P35637,Q9H6K4,Q9NX14,P03886,Q9H5K3 16 |
| Abnormality of the gingiva 0.3422903311826463 1.007929953845672 0.3134880904765016 1.0 0.6960371546490539 46 Q15056,Q9Y5U9,Q9UBM7,O75845,Q5JRA6,P04062,Q10469,Q15392,P49257,P08236,Q14108,Q9UM00,Q9Y4P3,P53634,Q14739 15 |
| Reduced consciousness confusion 0.2999192096183455 1.0075842604800611 0.3136540881228251 1.0 0.6960371546490539 129 Q96CU9,Q8NBM4,Q9Y6N5,O96000,Q9Y6M9,Q9HC21,O43676,P40939,Q13423,P03886,Q86Y39,Q5H8A4,Q96IX5,Q13144,Q9NPL8,P00403,P35610,P12235,P36551,Q9NZ08,O14678,P20674,Q16836,Q9Y375,P03915,O43681,P00367,P23786,Q9NZJ7,P31751,Q9NWS8,Q9UBM7,O96008,P04062,O75306,O43819,P07602,Q9NX14,P50416 39 |
| Hyperkinetic movements 0.4815268269960441 1.0044513980493217 0.3151610864613587 1.0 0.6979546148699594 12 Q9NZJ7 1 |
| Monochromacy 0.6883604505631974 1.0036099218862946 0.3155666702777155 1.0 0.6985152092813975 2 Q6P4Q7 1 |
| Short femur 0.5965543066994552 1.0028519126995552 0.315932317142048 1.0 0.6989033997901275 6 Q9UHX1 1 |
| Abnormal pupillary function 0.5110294709116739 1.0026140648018966 0.3160471070198918 1.0 0.6989033997901275 9 P07602,Q9NZJ7 2 |
| Abnormality of the intrahepatic bile duct 0.6602569649641369 1.0017617171821418 0.3164586908884217 1.0 0.699161177117273 4 Q10713,Q9Y5L0 2 |
| Enlarged thorax 0.4151705433803455 1.0017194573359276 0.3164791065824137 1.0 0.699161177117273 20 Q7RTS9,Q14739,O75844 3 |
| Prenatal maternal abnormality 0.4570725648834279 0.9978462443430816 0.3183539219162803 1.0 0.7009599568574706 14 P40939,Q8TAA9,P50416,Q14739,P16435 5 |
| Lipoma 0.6300794432447293 0.9936846808815938 0.3203764030642304 1.0 0.7040320136123197 5 Q8TAA9,P21912 2 |
| Abnormal systemic arterial morphology 0.2967006723787399 0.993079807761775 0.3206710633803822 1.0 0.7040320136123197 143 P00846,O75845,P38435,P21912,P04062,P53701,Q9NWM8,O75844,Q9UHX1,P21964,P07602,P03915,Q96PU5,Q9NZJ7,Q13510,P17900,P03886,Q7LGA3 18 |
| Abnormality of temperature regulation 0.2986311124053639 0.9917479602989692 0.3213204890030237 1.0 0.7046412659015743 110 Q8NBM4,Q9HC21,Q14739,P03886,Q13144,Q5XKP0,P00403,P51572,P35610,Q9NR77,Q12769,P51798,P03915,P23786,Q9NZJ7,Q2TAA5,P00846,P07602,Q13510 19 |
| Calvarial skull defect 0.5178707157131271 0.9915143866187662 0.321434470944697 1.0 0.7046412659015743 8 Q14739,Q5H8A4 2 |
| Abnormal peripheral nervous system physiology 0.3369639890083545 0.9871629379382848 0.3235627675754939 1.0 0.7068868608229928 51 P39210,Q99720,Q9UBB4,O60313,Q9NR77,O15269,Q9NQZ5,O43681,P07602,Q8TB36,Q9NZJ7,Q8N2K0 12 |
| Tongue fasciculations 0.4671921100457944 0.986836626738286 0.3237227359104815 1.0 0.7068868608229928 13 Q9BQT8,Q13510,Q16637 3 |
| Congenital contracture 0.3450907000816084 0.9843107981291932 0.3249627218486073 1.0 0.7076897298052846 43 Q96AA3,P04062,Q8NCH0,Q96A33,O75844,Q969X5 6 |
| Inappropriate crying 0.5537718341676897 0.9826516521018448 0.3257789135790512 1.0 0.7081209592121502 7 Q9NZJ7 1 |
| Prominent sternum 0.7442580221224394 0.9816391900239808 0.3262776332599129 1.0 0.7088687129430634 3 Q7RTS9 1 |
| Abnormality of the upper respiratory tract 0.3036561394431926 0.9797551677994852 0.327206986975268 1.0 0.7092791321857297 98 Q10469,Q9BV10,Q14739,Q7Z2Z2,Q7RTS9,P17302,Q9UHX1,Q03519,Q9NZJ7,O15460,Q15165,Q9UBM7,Q9H0U3,Q13432,P21964,P07602,P08236,P35637,Q13510,Q92804,P16435 21 |
| Abnormal renal physiology 0.2881976069415445 0.9781467607040056 0.3280017434401066 1.0 0.7092791321857297 164 Q96CU9,Q8NBM4,O96000,Q9Y6M9,Q8TAA9,O43676,P03886,Q86Y39,O95470,P40855,Q9NPL8,P00403,P09601,Q14108,Q7Z4L5,Q9Y375,Q12769,P61619,Q8NCH0,Q9BT22,P03915,P23786,O15460,P23458,Q9NQH7,P11802,Q9NWS8,P21912,P04062,Q10713,P05023,O75306,O43819,Q9Y4P3,Q9NX14,P49257 36 |
| Abnormality of the pharynx 0.3360366978320855 0.9779157853434824 0.32811597722603 1.0 0.7092791321857297 49 Q7RTS9,Q9H0U3,Q10469,Q9BV10,Q13432,Q03519,P21964,P08236,P17302,Q13510,O15460 11 |
| Patchy changes of bone mineral density 0.6262960654824797 0.9769160426177914 0.3286107188639025 1.0 0.7092791321857297 5 Q14739,Q13126 2 |
| Spinal muscular atrophy 0.4969220962583985 0.9748614477597808 0.3296289917025503 1.0 0.7092791321857297 10 Q13510,Q99720 2 |
| Proportionate tall stature 0.6814768460575659 0.973296409237004 0.3304060065668246 1.0 0.7092791321857297 2 O00170 1 |
| Deviated nasal septum 0.6814768460575651 0.9732964092370006 0.3304060065668264 1.0 0.7092791321857297 2 Q15233 1 |
| Limb dysmetria 0.6814768460575651 0.9732964092370006 0.3304060065668264 1.0 0.7092791321857297 2 P54098 1 |
| Metaphyseal cupping 0.7420970266040433 0.9730559281203864 0.3305255063179655 1.0 0.7092791321857297 3 O95831,Q14739 2 |
| Short middle phalanx of finger 0.6534329010341442 0.9728063448775892 0.330649558667111 1.0 0.7092791321857297 4 Q9UHX1 1 |
| Pharyngitis 0.6534023458606051 0.9726768477204704 0.3307139355410879 1.0 0.7092791321857297 4 Q9BV10 1 |
| Hypokinesia 0.4530312536101671 0.9717353619424997 0.3311822198140937 1.0 0.7092791321857297 14 P04062,P13473,P12235,Q2TAA5,O95831 5 |
| Mild short stature 0.6525927604424004 0.9692462321787256 0.3324223490487508 1.0 0.7104287329017612 4 Q14739 1 |
| Mottled pigmentation 0.7396627026598941 0.9633975682901936 0.3353480461735962 1.0 0.7155940122862592 3 O75844 1 |
| Atonic seizure 0.4009884736202403 0.9621048225182022 0.3359969519029078 1.0 0.7160642016833133 23 Q01105,Q13510,O14653 3 |
| Progressive microcephaly 0.3457770723960265 0.9609248774370386 0.3365899412382571 1.0 0.7167559314592846 41 P50897,Q9Y487,Q9BT22,Q9BV10,Q15043,Q5T8D3,Q9HC21,Q9H5K3 8 |
| Deep plantar creases 0.6224873270622957 0.9600533422864228 0.337028369052025 1.0 0.7167559314592846 5 Q9Y487,P61978,O00170 3 |
| Hypometric saccades 0.738660634824332 0.9594251256957924 0.3373446225004122 1.0 0.7167559314592846 3 P04062 1 |
| Focal t2 hyperintense basal ganglia lesion 0.3975101467165925 0.9592325046745688 0.3374416289432476 1.0 0.7167559314592846 24 Q9P0J0,Q7KZN9,P03886,P00846 4 |
| Stroke 0.3567834560249563 0.9589717847542236 0.3375729594258263 1.0 0.7167559314592846 34 Q96AA3,Q9H3H5,P00403,O75844,P03886 5 |
| Abnormal nasal mucosa morphology 0.7380701478639016 0.9570852198191232 0.3385242430817854 1.0 0.7170647051393779 3 Q13432 1 |
| Fever 0.3146469412098204 0.956821497580178 0.3386573596511597 1.0 0.7170647051393779 87 P14174,Q13586,Q8NBM4,P10253,P61978,Q14739,P03886,Q13144,P00403,P51572,P35610,Q9NR77,Q9NZ08,Q12769,P03915,P23786,Q9NZJ7,O15460,P00846,P49770,P07602,Q13510 22 |
| Abnormal myelination 0.2863777395746931 0.95623007580155 0.3389560081486318 1.0 0.7173655562757649 222 Q96CU9,Q9H3H5,Q99720,Q7KZN9,O96000,Q9BV10,Q9Y6M9,Q15067,O43676,P03886,Q86Y39,Q5H8A4,Q7LGA3,P41440,P40855,Q13144,Q9NPL8,P39210,P00403,P51572,Q9NR77,O15269,P29084,Q9P0J0,O75340,Q8TB36,P51648,Q5T8D3,Q9Y375,Q9H490,P03915,O43681,Q2TAA5,Q9NZJ7,Q9NWS8,Q9H0B6,P00846,P21912,O75306,O43819,P07602,Q9NX14 42 |
| Distal amyotrophy 0.3319598060897102 0.9546847038563702 0.3397371674721157 1.0 0.718355192135318 63 Q8N0X7,Q9BQT8,Q9NVI7,P39210,Q9H0B6,Q99720,Q9BUK6,P21912,P07196,Q9NR77,O15269,Q8TB36,P35637,Q13510,Q8N2K0 15 |
| Abnormal bleeding 0.2956676034607451 0.9536622520878018 0.3402546334848577 1.0 0.7190355751034134 106 Q9H3H5,Q8NBM4,Q9Y487,Q10469,Q14739,Q4KMQ2,Q96AA3,O75844,P11117,Q14108,P51798,P38435,Q9NWM8,Q8NCH0,Q9UHX1,Q96PU5,P23786,O15460,P21912,P04062,P21964,P49257 22 |
| Ecchymosis 0.4830988342250336 0.9489078864938008 0.3426674631283322 1.0 0.7218861223236865 11 P04062,Q8NCH0 2 |
| Diaphyseal thickening 0.7356565432400134 0.9475282042804632 0.3433696912985373 1.0 0.7221050873768249 3 Q14739 1 |
| Abnormality of the skull base 0.3321103643394231 0.9441105751601692 0.3451131458302556 1.0 0.7237458188640518 60 Q96AA3,Q9NPL8,Q9H490,Q9UBM7,O95298,Q9Y487,P15291,Q10713,Q9UHX1,P23786,Q96J42,Q14739,Q9H5K3 13 |
| Aplasia hypoplasia of the tongue 0.5839730282191723 0.9440780370484536 0.3451297717629753 1.0 0.7237458188640518 6 Q96J42 1 |
| Skeletal muscle atrophy 0.2821885609683963 0.9428302203944062 0.3457677514345112 1.0 0.7240101655228027 172 O43505,Q16637,O14979,Q13126,P50402,Q9BUK6,Q99720,P07196,Q9HC21,Q8N2K0,O75298,Q9NPL8,P39210,P55263,O60313,Q9NR77,O15269,Q6P4A7,P12235,Q8TB36,Q9H5K3,Q8N0X7,Q9BQT8,Q9NWM8,Q9NVI7,Q15165,Q3ZAQ7,Q9H0B6,Q6DKK2,P21912,P51812,O43819,Q969X5,P51530,P35637,Q13510,Q92804,P50416 38 |
| Muscle fiber inclusion bodies 0.4819287577159414 0.9420864124335474 0.3461484004342889 1.0 0.7240101655228027 11 O75340,Q9H3H5,P07196,O43676 4 |
| Deformed tarsal bones 0.6742803504380405 0.9417470397482374 0.3463221654596466 1.0 0.7240101655228027 2 O43175 1 |
| Abnormal aortic valve morphology 0.3424954261926078 0.9408327524465327 0.3467905736726184 1.0 0.7240101655228027 42 P04062,P51812,O75844,Q6NUK1,Q9UHX1,Q9BUB7,P21964,P37268 8 |
| Keratoconjunctivitis 0.4816728760579419 0.9405947252974426 0.3469125860162356 1.0 0.7240101655228027 11 Q14739,P29084,Q8NBM4 3 |
| Ophthalmoparesis 0.3161012666205134 0.9385113598149392 0.3479816818465286 1.0 0.7249953526447169 84 Q96CU9,Q13586,Q7KZN9,Q9BPX6,P03886,Q96IX5,P00403,O60313,P12235,Q9P0J0,Q96HR9,Q96DP5,Q9Y4W6,O00483,Q86SQ9,P03915,O00170,O15460,Q5JPH6,P00846,P21912,P04062,Q10713,O75306,Q8NCE2,O95169,O43819,P51530,P54098,O76024 30 |
| Abnormal heart valve morphology 0.3185316953084136 0.9380074739585216 0.3482405692020847 1.0 0.7249953526447169 81 P51798,P04062,Q8NCH0,P53701,P51812,O75844,Q6NUK1,Q9UHX1,P21964,Q9BUB7,P08236,Q96PU5,O95202,Q9Y4P3,Q9NX14,P37268,Q5H8A4 17 |
| Widened subarachnoid space 0.3759569496690956 0.9374918987361994 0.3485055890239814 1.0 0.725182837832826 29 P00403,Q9BV10,P03915,O75340,Q2TAA5,P03886,Q01105 7 |
| Anencephaly 0.4233049954479838 0.9367824816598626 0.3488704583219681 1.0 0.7252553262094582 16 Q8TAA9,Q96J42,P21964 3 |
| Hepatosplenomegaly 0.3459275078597222 0.9360255719147074 0.3492600216394568 1.0 0.7252553262094582 39 P51798,O75845,P04062,Q658P3,P10619,Q13510,Q14739 7 |
| Infectious encephalitis 0.4989280051104109 0.9359280113007687 0.3493102538385035 1.0 0.7252553262094582 9 Q9BUB7,Q14739,Q8NBM4 3 |
| Heterogeneous 0.3420307330548565 0.935886083589421 0.3493318430694618 1.0 0.7252553262094582 42 P00846,P51798,O75844,Q9NR77,P12235,P00367,P03915,P21964,Q8TB36,P40939,P03886,Q16836 12 |
| Aplasia hypoplasia involving bones of the thorax 0.3583754489996745 0.9332363007722349 0.3506979758771615 1.0 0.726776173353462 33 Q7Z4L5,Q7RTS9,O75844,Q9BV10,Q9UHX1,Q14739,P16435 7 |
| Centrally nucleated skeletal muscle fibers 0.5063714124129574 0.9298503224881332 0.3524485870764955 1.0 0.7273776111031991 8 Q13586,P22626,Q9BPX6,Q8NCE2 4 |
| Multiple prenatal fractures 0.5808684892993371 0.9296032714108264 0.35257653301183 1.0 0.7273776111031991 6 Q14739,O75718,Q32P28 3 |
| Hammertoe 0.4055864135421134 0.9292776151137884 0.3527452329123053 1.0 0.7273981355554379 20 Q8N0X7,P39210,Q9UBM7,Q99720,P07196,Q9NR77,Q8TB36 7 |
| Retinal arteriolar tortuosity 0.4794770450975639 0.9277953973475996 0.3535137119985299 1.0 0.728327260961 11 P00846 1 |
| Kyphosis 0.2919770221759749 0.9272828156603314 0.3537797141340131 1.0 0.7285477079379992 147 P50402,Q9Y487,Q10469,O95202,O75648,Q14739,Q5H8A4,Q7LGA3,Q8NBU5,Q7RTS9,O75844,Q9NR77,P29084,Q8TB36,Q14108,P51648,Q8N0X7,Q9Y375,Q9NWM8,Q8NCH0,Q9BT22,Q9UHX1,Q32P28,Q9H0B6,Q9UBM7,P21912,P04062,P51812,P51530,P08236 30 |
| Broad femoral neck 0.7299541816129446 0.9249975272147728 0.3549671937111542 1.0 0.7297507156203301 3 Q7RTS9 1 |
| Abnormal morphology of the conjunctival vasculature 0.5795678621971037 0.9235431051811572 0.3557242477971827 1.0 0.729987438534218 6 P10619,P18074 2 |
| Ventricular escape rhythm 0.6416164971951519 0.9228420698440286 0.3560895133616362 1.0 0.729987438534218 4 P50402 1 |
| Premature loss of primary teeth 0.6414293148896922 0.9220526030835002 0.3565011379868084 1.0 0.729987438534218 4 P17302,P51798 2 |
| Limited hip movement 0.4211547831168765 0.921795452101899 0.3566352801396908 1.0 0.729987438534218 16 O75844,Q7LGA3 2 |
| Adrenocorticotropic hormone deficiency 0.6695869837296606 0.9212570099516364 0.3569162601169728 1.0 0.729987438534218 2 O00170 1 |
| Hyperaldosteronism 0.6695869837296549 0.92125700995161 0.3569162601169866 1.0 0.729987438534218 2 Q01968 1 |
| Gastric ulcer 0.7289514866979284 0.921043143488392 0.3570279026091625 1.0 0.729987438534218 3 P04062,O76024 2 |
| Unusual infection by anatomical site 0.4447774886782979 0.9184059516130656 0.3584063760002189 1.0 0.730421594814572 14 Q14739,Q8NBM4,Q9BUB7,Q8TAA9,O15460 5 |
| Abnormal nipple morphology 0.3280393582930972 0.916861713440028 0.359215108884326 1.0 0.7312151936094119 65 Q96AA3,Q9H3H5,Q9NXE4,Q9UBM7,Q96A33,Q10469,Q9BV10,P29084,Q15067,O95202,Q9UM00,Q2TAA5,P23786,O14678,Q6NUK1,Q5H8A4,Q7LGA3 17 |
| Abnormal tongue morphology 0.3263091689414996 0.9141333920738296 0.3606467583449448 1.0 0.7333688946425517 68 O75431,Q9UBM7,P21912,Q96A33,Q10713,Q10469,O75844,O15460,Q9Y4P3,O75648,Q96J42,Q6NUK1,Q9H5K3,Q7LGA3 14 |
| Weakness of facial musculature 0.3273045209500482 0.9135465478313146 0.3609551641113471 1.0 0.7333688946425517 66 P40855,Q9H3H5,Q9BQT8,O75381,P51798,Q9BUK6,P51812,P07196,O60313,P12235,Q9UHX1,O75340,P56589,O43819,Q15043,P51530,Q86VD7,Q13510 18 |
| Subcutaneous nodule 0.40724867283925 0.9129522441844908 0.3612676585878867 1.0 0.7333688946425517 17 P11802,P21912,Q8NBM4,P35637,Q13510,Q9NZ08 6 |
| Decreased calvarial ossification 0.639257858983799 0.9128991984996966 0.3612955591121793 1.0 0.7333688946425517 4 O75844 1 |
| Spina bifida 0.3519108111322662 0.9112864508380352 0.3621444635268891 1.0 0.734223863663808 34 Q10713,P21964,Q9HC21,Q9UHX1 4 |
| Primary gonadal insufficiency 0.5386193254742082 0.9069710425910458 0.3644221105550049 1.0 0.7378067127452961 7 O76024,P49770,Q13144 3 |
| Abnormal spermatogenesis 0.4540348919100246 0.9048029664940892 0.3655697798235158 1.0 0.7384930258140124 13 P04062,Q13423,P16435 3 |
| Hypochromic microcytic anemia 0.7247645312372701 0.9045558857407574 0.3657007148782178 1.0 0.7384930258140124 3 O75027 1 |
| Anisopoikilocytosis 0.6367925535590718 0.9025186218303738 0.3667814338327808 1.0 0.7393985193724291 4 O75845 1 |
| Abnormal neuron morphology 0.3675085832000935 0.901446598457918 0.3673509148602596 1.0 0.7398689634680042 30 Q16637,Q99720,Q13510,Q92804,Q15165 5 |
| Pancreatic cysts 0.574335593116858 0.8991895597574924 0.3685517003649596 1.0 0.7410719024938305 6 Q96J42 1 |
| Abnormality of the parathyroid gland 0.3956875234832635 0.8950653412339583 0.370752159927961 1.0 0.7430952924438469 22 P03915,P03886,P21964,P00403 4 |
| Micropenis 0.3282594878411469 0.8947907836381831 0.3708989379788472 1.0 0.7430952924438469 59 O43505,Q9H936,P42892,Q9UBM7,Q9NX14,P53701,Q10713,P46977,Q9BV10,Q6NUK1,Q9NVI7,Q8TCJ2,P16435,O95470 14 |
| Slurred speech 0.4827198463663132 0.8944345039903012 0.371089458270224 1.0 0.7431125101231255 10 O15020,Q8N0X7,Q9Y487 3 |
| Anhidrosis 0.6063083095432744 0.8886730989446561 0.3741787926285407 1.0 0.7470532583110996 5 Q9Y276,Q12756 2 |
| Disproportionate tall stature 0.3660344542283579 0.8880694132656496 0.374503414347676 1.0 0.7473757162635242 30 Q9NWM8,Q8NCH0,O95202,P16435,Q5H8A4,Q7LGA3 6 |
| Abnormality of pancreas physiology 0.3387985428089051 0.8873440256581905 0.3748937094695812 1.0 0.7475034711878247 41 Q7Z2Z2,P14174,Q14739,Q8NBM4,P00403,P09601,Q15904,Q9UHX1,P03915,P03886,Q9NQH7 11 |
| Abnormal delivery 0.397335760902875 0.8859845917624589 0.375625830228572 1.0 0.7479011888873227 21 Q9UBM7,Q9Y487,O60313,O75844,Q969X5,O75718 6 |
| Retrognathia 0.3200433131481761 0.8842206901443359 0.37657709148246 1.0 0.7485906490152918 74 P04062,Q8NCH0,P37268,P53701,Q10469,Q15392,O75844,Q9BUB7,P29084,Q9UHX1,Q9NX14,Q6NUK1,Q7LGA3 13 |
| Abnormal caudate nucleus morphology 0.4719949785305498 0.8842104948479046 0.3765825940594167 1.0 0.7485906490152918 11 O95169,P00846,O75306,O43819 4 |
| Progressive hearing impairment 0.4154284620433917 0.8818896033622682 0.3778365098361123 1.0 0.7497821083018911 16 P03915,P03886,P00403 3 |
| Akinesia 0.4610957270873445 0.881371912791746 0.3781165547389649 1.0 0.7500130103090636 12 P04062 1 |
| Hypoplasia of teeth 0.3937464772952305 0.8798749560769382 0.3789270530676814 1.0 0.7506458094060164 22 P51648,O75431,P29084,O75844 4 |
| Ectrodactyly 0.4026753587882671 0.8758295279362028 0.3811227150793199 1.0 0.7523930549303938 18 Q9UBM7,Q99720,Q9NR77,O95202,Q8TB36,Q5H8A4 6 |
| Abnormality of cardiovascular system electrophysiology 0.2923901281217253 0.8750066283820996 0.3815702991465173 1.0 0.7526524023400827 123 Q9H3H5,P50402,Q9BTV4,Q10469,Q9BUB7,P10253,P40939,P03886,P40855,P00403,P13473,Q02978,P12235,P56589,P17302,P36551,Q8TB36,Q96DP5,Q16836,Q15056,Q9H490,O75208,P03915,P23786,Q9NZJ7,O15460,P42892,P00846,O75381,P21912,P04062,P53701,O75306,O43819,O95169,P07602,Q8NC56,Q9Y4P3,Q9NX14,P50416,P51970,O75880 42 |
| Pediatric onset 0.2830086642283255 0.8749366885523041 0.381608355050794 1.0 0.7526524023400827 232 Q96CU9,Q9H3H5,O75431,Q93063,P50402,Q9Y5L0,O95298,P07196,Q15904,O43292,Q8WWV3,O15020,Q9BRT2,Q9Y6M9,Q15067,O75648,Q9H9P8,Q9BUF5,P55795,Q8WVX9,P40939,Q13546,Q14566,Q96AA3,P41440,Q13144,Q9NPL8,Q5XKP0,P39210,Q12756,P55263,Q9NR77,Q9P0J0,O15118,P49366,Q6ZXV5,Q8TB36,Q9Y276,Q70HW3,Q96DP5,P20674,Q9Y4W6,Q9H5K3,Q9NSD9,P28288,Q8N0X7,Q9Y375,P51798,P49748,O75027,P22830,Q9Y6B6,Q92643,P23786,Q9NZJ7,Q2TAA5,O95831,Q9NVI7,Q5JPH6,O14773,Q9H0U3,Q10713,P49770,O75306,O95169,P07602,Q96S52,Q9Y320,Q13510,Q5JRA6,Q53H12,P51970,O75746,P54098 74 |
| Abnormality of the bladder 0.2921981425697703 0.8718891501129569 0.3832688532667825 1.0 0.7540308654651772 124 Q93063,Q99720,P07196,Q8TAA9,P61978,Q9BRK0,O75298,Q8WWI5,Q9NR77,P12235,Q3ZCQ8,P56589,P17302,Q96DP5,P22626,Q8N0X7,Q15056,Q9NWM8,Q8NCH0,Q9UBB4,Q86XL3,Q9UHX1,O43681,Q9NZJ7,O00170,O96011,P21912,P04062,Q9UJS0,P51812,P21964,Q8NCE2,P07602,P16435,P35637,Q9Y4P3,Q08209,P54098 38 |
| Vertebral compression fracture 0.4257352371655881 0.8701965492700311 0.3841930014043146 1.0 0.7547953127989112 15 Q7Z2Z2,P04062,Q14108,Q32P28,O75718,Q14696 6 |
| Abnormal pharynx morphology 0.33955191174787 0.8700479916058055 0.3842741778768863 1.0 0.7547953127989112 39 Q7RTS9,Q9H0U3,Q10469,Q9BV10,Q13432,Q03519,P08236,P17302,Q13510,O15460 10 |
| Hypoplasia of the corpus callosum 0.2774622137441258 0.8658425827529979 0.3865764936486227 1.0 0.7559659901926147 180 P49902,Q9H3H5,Q9BV10,Q96N66,P03886,Q5H8A4,Q7LGA3,P00403,Q9NZ01,Q9UBX3,Q9H490,Q9UHX1,P03915,Q96PU5,Q9NZJ7,P37268,P04062,P07602,Q9Y320,Q01105 20 |
| Abnormality of the extrinsic pathway 0.5301460660355941 0.8647809118387761 0.3871590498743986 1.0 0.7560826049762311 7 Q9H3H5,P38435 2 |
| Skin dimple 0.3676678213149015 0.863797199812246 0.3876993063866178 1.0 0.7560826049762311 29 Q9H3H5,Q08J23,P53701,Q969X5,Q8TAA9,O95202,Q9UM00,P61978,Q9Y4P3,Q9NX14,Q5H8A4 11 |
| Abnormal femoral neck head morphology 0.3324021527033215 0.8634908619965442 0.3878676414816697 1.0 0.7560826049762311 44 Q7Z2Z2,Q7RTS9,O75431,Q9Y487,Q96A33,P51812,Q10469,O75844,P29084,Q14739,O75718,Q7LGA3 12 |
| Large for gestational age 0.4938892933054742 0.8630554094276583 0.3881070028162583 1.0 0.7560826049762311 8 P31751,Q9UM00,Q8NCE2 3 |
| Spastic paraparetic gait 0.6002721349650704 0.8621677708723722 0.3885952021967629 1.0 0.7567119491991362 5 Q15041 1 |
| Bifid tongue 0.7134529244966058 0.8602312815184315 0.38966156436959 1.0 0.7575007585665936 3 Q9UBM7 1 |
| Myoclonic spasms 0.565066920461452 0.8561651540803372 0.3919064339640514 1.0 0.7605740281335382 6 P00846 1 |
| Gliosis 0.3331003992197555 0.8553547634124362 0.3923547787392714 1.0 0.7611217596034469 43 P00846,P04062,Q7KZN9,Q10713,O75306,O43819,O95169,P49770,P35637,Q13144 10 |
| Tonic seizure 0.3813759183816462 0.8538448346131926 0.3931909688474673 1.0 0.7620985699065546 25 P07602,Q01105,Q9NZJ7 3 |
| Increased urine alpha ketoglutarate concentration 0.5981193467230836 0.8527340937001302 0.3938067796264923 1.0 0.76245161703358 5 P21912 1 |
| Fat malabsorption 0.4837784786427023 0.8526159372880769 0.3938723215884949 1.0 0.76245161703358 9 Q7Z2Z2,Q96A33,Q14739 3 |
| Postaxial hand polydactyly 0.4561176462444811 0.8514307978690151 0.3945300896780603 1.0 0.7630644855996378 12 Q7Z4L5,O75845,Q10713,Q9UM00,Q96J42,Q14739 6 |
| Keratitis 0.456093361000985 0.8512848145500316 0.3946111582976654 1.0 0.7630644855996378 12 Q14739,P29084,Q8NBM4 3 |
| Abnormal diaphysis morphology 0.3209806615075907 0.846836349971791 0.3970863441352559 1.0 0.7664067518229749 68 O75431,Q13126,Q9Y487,Q14739,Q7LGA3,Q7Z2Z2,Q7RTS9,Q9NR77,P17302,O75718,Q8N0X7,P51798,Q32P28,P51812,P08236,Q9NX62,Q9Y4P3,Q96J42,P16435 19 |
| Abnormal pulmonary thoracic imaging finding 0.3893801814818227 0.8457113535542 0.397713787898442 1.0 0.7669716229590327 22 P04062,Q13510,P21964 3 |
| Abnormal arterial physiology 0.3733121147391203 0.8443294381284115 0.3984853403804278 1.0 0.7678724990193492 27 Q14739,Q9NWM8,Q8NBM4,O75844,Q9Y4P3,O15460 6 |
| Hyperhomocystinemia 0.6228276506204744 0.843974434795793 0.398683691655834 1.0 0.7678724990193492 4 P41440 1 |
| Oligomenorrhea 0.5956443744121876 0.8419020416750551 0.3998427874290577 1.0 0.769586514777655 5 P31751,O00170 2 |
| Abnormal circulating fatty acid anion concentration 0.4326425248224938 0.8400723579652468 0.4008678175384088 1.0 0.7704598741447103 14 P40939,Q16836,P23786,O75880 4 |
| Inappropriate antidiuretic hormone secretion 0.6501877346683275 0.8373934398282944 0.4023714520026882 1.0 0.7720544359616069 2 P50336 1 |
| Vomiting 0.2978905812860465 0.8353816787039782 0.4035028420891946 1.0 0.7735774152521714 95 Q96CU9,O96000,Q9Y6M9,P51571,O43676,O75648,P40939,Q13423,P03886,Q86Y39,Q9NPL8,P39210,P00403,P35610,P11117,Q16836,Q9Y375,P03915,P23786,Q9NZJ7,Q2TAA5,P00846,Q9UBM7,P07602,Q9NX14 25 |
| Abnormal anterior horn cell morphology 0.5241488400479336 0.8349971714601974 0.4037193009664175 1.0 0.7736686896813572 7 Q13510 1 |
| Intestinal polyp 0.4085624568887613 0.8340755518299144 0.4042384109406358 1.0 0.7740764639000185 16 P42892,O60566,Q8NFG4,P21912 4 |
| Dysphasia 0.3950223403211984 0.833327217990154 0.4046602099118006 1.0 0.7742202593154903 19 P53701,P21964,Q8NFG4,Q9H9P8,Q9NX14 5 |
| Tube feeding 0.3208545216910063 0.8330519051320184 0.4048154564373121 1.0 0.7742202593154903 66 Q9H490,Q99720,Q9UHX1,P07602,Q9NZJ7,Q96N66,Q01105,P37268,Q9NZ01 9 |
| Abnormality of subcutaneous fat tissue 0.4200238269108499 0.8319503683441392 0.4054369596773366 1.0 0.7744505206478913 15 Q9Y487,Q6NUK1,O75431,O75844 4 |
| Hyperpigmentation of the skin 0.3030083148794653 0.8315719729874702 0.4056505874005836 1.0 0.7744545797789474 90 P21912,P04062,P53701,O75844,P51648,Q14739,Q06136,P16615 8 |
| Aplasia hypoplasia of the nipples 0.3965652586841121 0.8311059281276963 0.4059137911156392 1.0 0.7746343152402577 18 Q5H8A4,Q96A33,Q10469,Q6NUK1 4 |
| Cholestasis 0.3135080118104323 0.8291726696506209 0.4070067076916088 1.0 0.77598703273227 77 Q9H3H5,Q15904,O75648,P40939,Q14739,P40855,Q8WWI5,P39210,Q16134,P55263,O15118,P56589,P36551,Q9Y276,Q9NSD9,P28288,Q9Y5U9,O75845,P49748,Q5JPH6,O96011,O75381,Q9UBM7,Q13510 24 |
| Weak cry 0.479361595180061 0.8283886487646166 0.4074504329613626 1.0 0.7760204094494253 9 O60313,O75208,Q13510 3 |
| Acantholysis 0.5925371447394823 0.8283241877208087 0.4074869282268261 1.0 0.7760204094494253 5 P16615 1 |
| Hemoglobinuria 0.6183469004383206 0.8252940008001148 0.4092046969500975 1.0 0.7767268808199204 4 P11413,Q9H0P0,Q969N2 3 |
| Polymicrogyria 0.3162213053455601 0.8247159200605102 0.4095328911799654 1.0 0.776856776350201 73 P40855,Q9Y487,Q10713,Q15392,Q9Y320,P23786,Q96N66,Q01105,P37268,Q9NZ01,Q9H5K3 11 |
| Abnormal thyroid hormone level 0.646745932415525 0.8226712964045172 0.4106949424183899 1.0 0.7782482324901003 2 O14654 1 |
| Abnormal electroretinogram 0.3427058974229797 0.821145942651175 0.4115631435081139 1.0 0.7795060929883948 34 P50897,P00846,O14773,Q96S66,Q15067,P40939 6 |
| Myotonia 0.521130915282666 0.8200380205274208 0.4121944330441307 1.0 0.7795060929883948 7 Q3ZAQ7,P50402 2 |
| Abnormal lumbar spine morphology 0.4605507029831157 0.8176782961883308 0.4135409066565367 1.0 0.7799215656971574 11 P04062,P51812,Q10469,O75845 4 |
| Thickened nuchal skin fold 0.4288099943631616 0.8153718094494133 0.4148595157541175 1.0 0.780351804838642 14 P40855,O96011,O75381,P56589,P61978 5 |
| Neurodegeneration 0.3577598627259291 0.8129833652537296 0.4162275956011041 1.0 0.7822620357031416 30 Q6DKK2,P08236,Q92804,P17900,Q15165 5 |
| Abnormal muscle glycogen content 0.6147047639672506 0.8101514391370561 0.4178531432860386 1.0 0.7840307545195041 4 O75648,Q9BUK6 2 |
| Wormian bones 0.3927169667833289 0.8075597109837426 0.4193440877294587 1.0 0.7860613120456491 17 Q12756,Q9Y487,O75844,Q8NC56,O95831,Q32P28,O75718,Q14696 8 |
| Saccadic oscillation 0.6139243473769819 0.8069118544042919 0.4197172685891583 1.0 0.7860613120456491 4 P04062 1 |
| Primary adrenal insufficiency 0.4161274960779908 0.805887407492445 0.4203077727000961 1.0 0.7860613120456491 15 P40855,O96011,O75381,P56589,Q9H0R6,Q13423,P16435,P50542 8 |
| Abnormality of the musculature of the upper arm 0.5538454745898664 0.8043204716900517 0.4212119176656204 1.0 0.7867181218890253 6 O14979,P50402 2 |
| Proximal upper limb amyotrophy 0.5538454745898664 0.8043204716900517 0.4212119176656204 1.0 0.7867181218890253 6 O14979,P50402 2 |
| Fatigable weakness of swallowing muscles 0.4268954504390978 0.8030427487433813 0.4219500265715776 1.0 0.786884420737065 14 Q15165,Q92804 2 |
| Bone pain 0.3838216079106191 0.8022467983482613 0.4224102104696117 1.0 0.7873573623953035 22 P04062,P07602,Q9NZJ7 3 |
| Hypocalcemia 0.4036551223256608 0.7999423420000448 0.4237442040083099 1.0 0.7879853663823361 16 P51798,Q9BV10,Q4J6C6,P21964,P40939 5 |
| Abnormality of earlobe 0.3677924244495414 0.7971481902070561 0.4253649715789018 1.0 0.7899461845707477 27 P53701,Q15392,P21964,Q9NX14,P16435,Q7LGA3 6 |
| Onset 0.2660101233868232 0.7969359085987283 0.4254882548058938 1.0 0.7899461845707477 399 O43505,O14979,O75431,P07196,Q15904,Q8WWV3,O15020,O75352,P50897,Q5XKP0,P55263,P46977,Q4J6C6,P17302,P36551,Q9Y276,P20674,Q9Y4W6,Q9H5K3,Q9NSD9,Q9UHX1,O75027,Q9NZJ7,O14773,P21912,P04062,Q9Y6M1,Q10713,P49770,O95169,P07602,Q13510,Q5JRA6,P51970,Q00535,Q9H3H5,Q13586,Q93063,O95298,Q9Y6M9,Q9HC21,Q96N66,Q5H8A4,Q7LGA3,Q96AA3,P39210,Q9P0J0,Q70HW3,Q9H490,P38435,Q96PU5,Q969X5,Q9Y320,Q9NWW5,P50402,O43292,Q15067,P08670,P40939,P41440,Q8IV08,Q9NR77,P12235,O15118,Q8TCJ2,Q8N0X7,P23786,Q9NVI7,Q6NUK1,Q9H0U3,Q9NQZ5,Q9NX14,Q96CU9,Q16637,Q9BUB7,P51571,O75648,Q8N2K0,Q14566,Q13144,Q8NBU5,Q9NPL8,Q8TB36,O14678,Q9Y375,P51798,P22830,Q92643,Q2TAA5,P31751,Q9NWS8,Q9UGP8,O75306,O43819,Q53H12 95 |
| Protruding tongue 0.4469163657178751 0.7961934248861466 0.4259196186584062 1.0 0.7904267690128868 12 Q6NUK1,Q10713 2 |
| Dysostosis multiplex 0.47335834675627 0.7955227286913021 0.4263094950994031 1.0 0.7906131483740596 9 P15586,P10619,P08236,P04066,Q9Y223 5 |
| Calcific stippling 0.6966674765817509 0.7951303331056374 0.4265376915715135 1.0 0.7906131483740596 3 O15228 1 |
| Abnormality of bone mineral density 0.2849220075230618 0.7944219179124671 0.426949848613938 1.0 0.7906458244534745 146 Q9H3H5,O75431,Q13126,Q93063,Q9Y487,O43292,Q15392,Q10469,O95202,Q9HC21,O15228,Q14739,Q5H8A4,Q7Z2Z2,O75844,P29084,P12235,P17302,Q14108,O75718,Q9NSD9,Q9Y375,Q9H490,O75845,P51798,Q9NWM8,Q8WVQ1,Q15043,Q9NZJ7,Q32P28,P04062,P07602,Q8NC56,Q13510,Q5JRA6,Q9Y4P3 36 |
| Abnormality of the common coagulation pathway 0.4254396485762938 0.7936729454462805 0.4273858542626021 1.0 0.7909054863615683 14 P49257,Q4KMQ2,Q9BV10,P38435 4 |
| Abnormality of the vertebral endplates 0.5153613115302237 0.7914999125304107 0.4286523271710067 1.0 0.7926089439457438 7 Q7RTS9,O15228 2 |
| Large basal ganglia 0.413848899806386 0.7906593620055514 0.4291427962336884 1.0 0.7928759243317582 15 Q9NZ01 1 |
| Intestinal malrotation 0.3668921102780715 0.7894566392169099 0.4298451632330828 1.0 0.793214070855411 27 Q9UBM7,Q8NCH0,Q15392,Q9BV10,P21964,O95202,Q14739 7 |
| Progressive spasticity 0.3899467485917217 0.7875015524918465 0.4309883199640922 1.0 0.794363830279755 17 O60313,O43681,P07602,Q9NZJ7,P17900 5 |
| Hemiplegia hemiparesis 0.3350540966893766 0.7863969790765448 0.431634952734071 1.0 0.7945420942524934 35 P00403,Q8NBM4,O60313,P03915,P50416,P03886 6 |
| Temporal pattern 0.5142580161312386 0.7860524855084521 0.4318367390712054 1.0 0.7945420942524934 7 P04062,Q9NR77 2 |
| Mediastinal lymphadenopathy 0.5498321784895969 0.7858556426021629 0.4319520638985075 1.0 0.7945420942524934 6 Q9H0U3,O15460 2 |
| Abnormal atrioventricular valve morphology 0.3340562716223584 0.78423984755797 0.4328993877647575 1.0 0.7956458061524745 36 O75431,P04062,P53701,P51812,O75844,P21964,Q9Y4P3,Q9NX14 8 |
| Self mutilation 0.4448699339319468 0.7839318526883674 0.4330800982933245 1.0 0.7956587852365729 12 Q10713,Q10469,Q9UM00 3 |
| Impaired tactile sensation 0.4707451000391885 0.7812421204801065 0.4346601048116749 1.0 0.7966450400988377 9 P39210,Q9NR77 2 |
| Osteolytic defects of the distal phalanges of the hand 0.6074825682000765 0.780243564214696 0.4352475244432838 1.0 0.7970574637974472 4 O75844 1 |
| Hyperinsulinemic hypoglycemia 0.6073216145158116 0.7795789397859628 0.4356387561449821 1.0 0.7970574637974472 4 P40939,Q16836 2 |
| Recurrent bronchitis 0.6069180360745018 0.7779128254335752 0.4366204067898369 1.0 0.7975864605284942 4 Q03519 1 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.5480584521369831 0.7777093449748943 0.4367403818127437 1.0 0.7975864605284942 6 Q7LGA3 1 |
| Abnormality of neutrophil morphology 0.5806564366541251 0.7766511316273861 0.4373646258088075 1.0 0.7980902889111733 5 Q14739 1 |
| Loss of ability to walk 0.4435675877161918 0.776133883833446 0.4376699389772285 1.0 0.7983294826407886 12 P00846 1 |
| Secondary microcephaly 0.3108382058711178 0.7726577385281425 0.439724963988058 1.0 0.8004345723522769 75 Q96CU9,P50897,Q5XKP0,Q9Y487,Q9BT22,Q10469,Q9BV10,Q9UHX1,Q15043,Q9HC21,Q5T8D3,Q86Y39,Q9H5K3 13 |
| Bowing of the legs 0.3181904225691658 0.772581079091301 0.4397703457808852 1.0 0.8004345723522769 50 Q7Z2Z2,Q7RTS9,Q8N0X7,O75431,Q13126,P51798,Q9NR77,P08236,Q9NX62,Q9Y4P3,Q32P28,P16435,O75718,Q7LGA3 14 |
| Macular purpura 0.4428531570496573 0.7718579696074825 0.4401985532342451 1.0 0.8004345723522769 12 P04062,Q8NCH0 2 |
| Abnormality of the extraocular muscles 0.6342302878598358 0.7695959391189195 0.4415396146448687 1.0 0.8004345723522769 2 P54098 1 |
| Macular atrophy 0.5460496638458349 0.7684947054029533 0.4421933349965159 1.0 0.8004345723522769 6 P04062 1 |
| Corpus callosum atrophy 0.4104329285031552 0.7678526064095393 0.442574756756573 1.0 0.8004345723522769 15 O75503,P54886,P51572,O60313,Q9H9P8,Q8WVX9,P51970 7 |
| Cirrhosis 0.3306271766788795 0.7674053813334287 0.4428405300065841 1.0 0.8004345723522769 38 P04062,Q14739,Q10713,P39210 4 |
| Abnormality of the protein c anticoagulant pathway 0.6042967495431295 0.7671045803532525 0.4430193388629257 1.0 0.8004345723522769 4 Q9H3H5 1 |
| Reduced protein s activity 0.6042967495431293 0.7671045803532525 0.4430193388629257 1.0 0.8004345723522769 4 Q9H3H5 1 |
| Subcutaneous hemorrhage 0.3313210777557001 0.7651528978854263 0.4441805038077178 1.0 0.8015892353079808 37 P38435,P04062,Q8NCH0,P21964,Q14108 5 |
| Preaxial polydactyly 0.4414615900429043 0.7635332339528778 0.4451454500558411 1.0 0.8023825539558869 12 Q96J42,O95202,Q5H8A4,Q9UHX1 4 |
| Abnormality of the wrist 0.340532817088543 0.7618162930442652 0.4461696547101503 1.0 0.8035964457082975 33 Q7RTS9,O75844,Q9BV10,Q969X5,Q13510,Q9H6K4 6 |
| Decreased light and dark adapted electroretinogram amplitude 0.687465922702146 0.7598384917500743 0.4473511315184439 1.0 0.8044595308545959 3 P50897 1 |
| Abnormal aortic arch morphology 0.4494279020638577 0.7532636325450193 0.4512915080551827 1.0 0.8083728263912616 11 Q9UHX1 1 |
| Absent epiphyses 0.5075110837109474 0.7528158841619672 0.4515605603148445 1.0 0.8085386820486977 7 Q7LGA3 1 |
| Laryngeal dystonia 0.6854460093896639 0.7521328912155453 0.4519711458679101 1.0 0.8089577306120171 3 Q96RL7,O75569 2 |
| Narrow nasal ridge 0.5421771120227314 0.7507659850797793 0.4527935037289543 1.0 0.8094810121287821 6 O75844 1 |
| Abnormality of the anterior fontanelle 0.3465826067338423 0.750432414611008 0.4529943145366641 1.0 0.8095241611571744 31 P40855,O96011,O75381,Q16134,Q08J23,Q9Y487,P51812,Q6NUK1,P56589,P42345,Q32P28,P20674,P16435,O75718 14 |
| Bird like facies 0.5065664076798759 0.7481733224595024 0.4543556200688257 1.0 0.8106293777385813 7 O75844 1 |
| Occipital encephalocele 0.5740113023943245 0.7479383356034474 0.4544973529922338 1.0 0.8106293777385813 5 Q9H5K3 1 |
| Cortical dysplasia 0.3618481099852601 0.7463972071669618 0.4554275058560948 1.0 0.8116564884607649 27 Q96N66,Q9NZ01 2 |
| Paresthesia 0.3676316329029138 0.7406599665097788 0.4588996385951045 1.0 0.8140303798081486 25 Q9NZ08,Q8NBM4,P07196,Q9NR77,Q9H6K4,O00170,O15460 7 |
| Metatarsus valgus 0.6823573217964645 0.7403806197491685 0.4590690749507324 1.0 0.8140303798081486 3 Q9H5K3 1 |
| Polydactyly 0.3195565838167265 0.7391028016199119 0.4598445757654774 1.0 0.8141370084852168 45 Q7Z4L5,O75845,Q10713,Q9UHX1,P21964,Q96J42,Q14739,Q5H8A4 8 |
| Adducted thumb 0.3673529433240926 0.7383692875047999 0.4602900725398005 1.0 0.8141370084852168 25 Q96AA3,Q8NBU5,P42892,Q8NCH0,Q86XL3,Q9Y4P3 6 |
| Bone spicule pigmentation of the retina 0.4703609359242816 0.737940411535672 0.4605506604089222 1.0 0.8141370084852168 8 Q9UG56 1 |
| Atelectasis 0.4466007372655453 0.7369437335318989 0.4611565670859932 1.0 0.814893710138072 11 P21964 1 |
| Abnormality of the curvature of the vertebral column 0.2705122948786457 0.7352727637403287 0.4621733921480853 1.0 0.8160670891873325 324 Q96CU9,Q9H3H5,P50402,Q99720,Q9BUK6,Q9Y487,Q10469,Q9BV10,Q8TAA9,O95202,P51571,O15228,O75648,Q14739,Q5H8A4,Q7LGA3,Q8NBU5,Q7RTS9,Q96A33,O75844,Q9NR77,P29084,O75340,Q8TB36,Q14108,P51648,Q9UM00,Q9H5K3,Q7Z4L5,Q8N0X7,Q9BQT8,Q9H490,Q9Y375,O14653,Q9NWM8,Q8NCH0,Q9BT22,Q9UHX1,Q9UG56,Q96PU5,Q15043,Q2TAA5,Q9NVI7,Q6NUK1,Q32P28,Q3ZAQ7,Q9H0B6,Q9UBM7,P21912,P04062,P51812,Q10713,P21964,Q969X5,P51530,P08236,P35637,Q9Y4P3,Q13510,P16435,Q01105 61 |
| Protuberant abdomen 0.5386901674399931 0.7348446508865806 0.4624341102697409 1.0 0.8160670891873325 6 P04062 1 |
| Generalized abnormality of skin 0.2758727358892579 0.7347257857158137 0.4625065129863246 1.0 0.8160670891873325 221 P14324,Q9H3H5,O75431,Q13126,Q9Y487,Q15904,O75648,Q14739,P03886,Q06136,P40855,Q8WWI5,P39210,P00403,O75844,P29084,O15269,O15118,P56589,P17302,Q14108,P51648,P98194,P51798,P38435,Q9NWM8,Q8NCH0,P22830,P03915,P37268,Q6NUK1,P00846,O75381,Q9UBM7,P21912,P04062,P53701,P10619,P51812,O75306,P21964,Q9Y4P3,Q9NX14,P49257 44 |
| Abnormal endocrine physiology 0.5705539748118957 0.7330597121105953 0.4635220108863442 1.0 0.8171624529614552 5 Q13423 1 |
| Hydrops fetalis 0.3229433063825553 0.7325031778847937 0.4638615037711875 1.0 0.8171624529614552 42 P04062,Q9BT22,O96000,P10619,Q13510,Q14739 6 |
| Lipodystrophy 0.3296464705990502 0.7324573038384772 0.4638894936930837 1.0 0.8171624529614552 35 P31751,Q9H3H5,P50402,Q9Y487,O75844,P42167,Q6NUK1 7 |
| Multifocal epileptiform discharges 0.3634244927865928 0.7315130772929243 0.4644658197620934 1.0 0.8171624529614552 26 Q96N66,Q9UBX3,Q9NZ01 3 |
| Chronic rhinitis 0.6799607905446248 0.7312880654198971 0.4646032186681901 1.0 0.8171624529614552 3 Q9BV10 1 |
| Abnormality of circulating leptin level 0.5955056700943067 0.7310349615024304 0.4647577984286566 1.0 0.8171624529614552 4 O75844 1 |
| Abnormal midbrain morphology 0.4686494437878553 0.7288981032758057 0.4660639951144119 1.0 0.8191336430764338 8 P04062 1 |
| Aplasia hypoplasia of the skin 0.314738072265841 0.7286143975471366 0.4662375689968003 1.0 0.8191336430764338 55 O75431,Q9NWM8,Q8NCH0,P53701,Q15392,O75844,O95202,Q96PU5,Q9NX14,Q5H8A4 10 |
| Ventricular septal hypertrophy 0.6780068226319138 0.7238919445466763 0.4691320758207711 1.0 0.8214242983894696 3 Q8NC56 1 |
| Coloboma 0.3136405221286754 0.7225301009677142 0.4699686257043334 1.0 0.8214242983894696 49 Q9UBM7,P53701,Q10713,Q9UHX1,O75340,O95202,Q9NX14,Q5H8A4,Q9H5K3 9 |
| Skin vesicle 0.4438881845211467 0.7213093258742643 0.4707192204149515 1.0 0.8216216101989994 11 P16615 1 |
| Limb pain 0.443667607543234 0.7200390681326206 0.4715009415490754 1.0 0.821662911187206 11 P00846,P54886,O75569,O15269,P36551,Q8WVX9 6 |
| Abnormal nerve conduction velocity 0.3239839422312013 0.7194913359983035 0.4718382386104172 1.0 0.821662911187206 40 Q99720,Q9UBB4,Q9NR77,O15269,O43681,P07602,Q8TB36,Q9NZJ7,Q8N2K0 9 |
| Oculomotor apraxia 0.367237273172404 0.7141800294029982 0.4751158641719133 1.0 0.823055156762082 24 P04062,Q10713,O43292,O14773 4 |
| Cholestatic liver disease 0.5912947116639011 0.7138617173541734 0.4753126917148402 1.0 0.8230849408304604 4 P40939 1 |
| Abnormal gastrointestinal motility 0.3463698476369922 0.7097932577776934 0.4778323506936113 1.0 0.8263105628472364 30 P11802,Q9UBM7,P00403,P03915,P35637,P36551,P61978,P03886,P54098,Q01844 10 |
| Nonketotic hypoglycemia 0.5651024902720005 0.7096893979699576 0.4778967681242201 1.0 0.8263105628472364 5 P31751,P23786,P49748 3 |
| Difficulty running 0.4118604614335839 0.7065492800004032 0.4798466178629286 1.0 0.8284291645650268 14 Q9H3H5,P07196,Q9BPX6,O75340,Q3ZAQ7 5 |
| Cold induced muscle cramps 0.6731670848086626 0.705641854097798 0.4804108891086582 1.0 0.8287612715236191 3 Q9NR77 1 |
| Eeg with focal spikes 0.5640337983344534 0.7051215252123059 0.4807346120599489 1.0 0.8287612715236191 5 Q5H8A4 1 |
| Aplasia hypoplasia of the 5th finger 0.4006176463107711 0.7025111575850546 0.4823604459506021 1.0 0.8303887960238011 15 P13073 1 |
| Heinz bodies 0.6179599499374125 0.7018180944731277 0.4827926129653876 1.0 0.8303887960238011 2 P11413 1 |
| Increased ldl cholesterol concentration 0.448305241125559 0.7008824420952185 0.4833763826595763 1.0 0.8304576622970298 10 Q8N511 1 |
| Hyperlipoproteinemia 0.448305241125559 0.7008824420952185 0.4833763826595763 1.0 0.8304576622970298 10 Q8N511 1 |
| Scanning speech 0.6712102920849699 0.6982918511880778 0.4849946943119159 1.0 0.8323017563060668 3 O14773 1 |
| Abnormal exteroceptive sensation 0.311693442212291 0.6937669980679194 0.4878283420769502 1.0 0.8347151998869834 53 P39210,Q8NBM4,Q8NCH0,P07196,O00170,Q9NR77,O15269,O95831,O15460,P07602,Q9H6K4,P61978,Q9NZ08,Q9NZJ7,Q8WVX9,P54098 16 |
| Abnormal renal medulla morphology 0.4468445825093903 0.6927424353384998 0.488471203232486 1.0 0.8347151998869834 10 Q7Z4L5 1 |
| Arm dystonia 0.5860685321984251 0.6926496235576937 0.4885294604699268 1.0 0.8347151998869834 4 Q99720 1 |
| Disproportionate short trunk short stature 0.5609846037367399 0.6921140330157763 0.4888657196721904 1.0 0.8348558998765768 5 Q9UHX1 1 |
| Bradykinesia 0.3519612560720359 0.691640899743442 0.4891628701104678 1.0 0.8348558998765768 28 Q5JPH6,Q86SQ9,Q6DKK2,P04062,O75569,P12235,Q15043,P54098,Q96IX5 9 |
| Truncus arteriosus 0.4537006177485633 0.6885990934316781 0.4910755917329883 1.0 0.8356970893910985 9 Q9UHX1 1 |
| Thin ribs 0.4088652789503582 0.6874161966405178 0.4918204939621151 1.0 0.8356970893910985 14 O75431,O75844,Q8NCE2,O95831,Q32P28 5 |
| Supraventricular arrhythmia 0.3873673629145012 0.6870939754233251 0.4920235104482051 1.0 0.8356970893910985 16 P00846,P50402 2 |
| Central nervous system cyst 0.3110901855841467 0.6867542622206066 0.4922375964929668 1.0 0.8356970893910985 53 Q9UBM7,P00846,Q9Y487,P15291,Q9UHX1,O95202,P23786,Q96J42,Q9H5K3 9 |
| Decreased circulating level of specific antibody 0.4606301234818052 0.6866691092480239 0.4922912674218844 1.0 0.8356970893910985 8 Q9H0U3,Q9BV10,Q13546 3 |
| Nephrotic syndrome 0.3512557740773661 0.6855226919113904 0.4930141464039035 1.0 0.8356970893910985 28 Q12769,Q8NCH0,Q9BT22,Q14108,O95470 5 |
| Recurrent sinusitis 0.5594187702930139 0.685449488055545 0.4930603247575509 1.0 0.8356970893910985 5 Q13432 1 |
| Pes valgus 0.4375226768149765 0.6847231943450356 0.4935186098583088 1.0 0.8356970893910985 11 Q5H8A4,Q9UHX1 2 |
| Reduced subcutaneous adipose tissue 0.4527368954029897 0.6833918015722348 0.4943592991567209 1.0 0.8359152604231785 9 Q6NUK1,O75844 2 |
| Frontotemporal dementia 0.4450822550273363 0.68293252370188 0.4946494812928246 1.0 0.8359152604231785 10 P35637,O96008 2 |
| Quadriceps muscle weakness 0.5587488070423441 0.6826011795545194 0.4948588885413312 1.0 0.8359152604231785 5 P12235 1 |
| Mutism 0.3751347100471149 0.6806216323900225 0.4961109353001889 1.0 0.8359322549458201 17 Q9NX14,P53701,Q13510 3 |
| Hypertriglyceridemia 0.3725144663004039 0.6798024581015066 0.4966295500357338 1.0 0.8359322549458201 20 P31751,O75431,P50402,Q9BTV4,P22830,O95470 6 |
| Arthralgia 0.3242891810350487 0.6791128385624278 0.4970663683455496 1.0 0.8359903150590229 35 Q15056,P14174,Q15800,Q8NBM4,Q9Y4P3,Q13510,Q9NZ08,O15460 8 |
| Nonprogressive cerebellar ataxia 0.5826289725108837 0.6787537472387509 0.4972939047342641 1.0 0.8359903150590229 4 O75027 1 |
| Abnormality of the lens 0.2723839321397346 0.678160949711264 0.4976696492209389 1.0 0.8359903150590229 211 O43505,Q9H3H5,O14979,Q13126,Q8NBM4,Q08J23,Q8WWV3,Q9BUB7,O15228,P08670,Q8N2K0,P03886,Q12797,Q06136,Q7LGA3,P40855,Q15800,P52732,Q16134,P00403,O60313,P29084,P12235,O75340,P56589,P17302,Q6ZXV5,Q9Y276,Q96HR9,Q9NZ08,P22626,Q9H5K3,Q86SQ9,Q15056,O75845,Q03519,P03915,O60566,Q8TC12,P23786,Q9NVI7,P04439,O96011,O75381,Q9UBM7,P21912,Q9UJS0,P53701,Q9Y287,Q10713,P51812,Q53H12,P21964,Q8NC56,Q9Y4P3,Q9H6K4,Q9NX14,Q96J42,P48449,P54098 60 |
| Coxa valga 0.3722910270394364 0.6781269501826569 0.4976912043910242 1.0 0.8359903150590229 20 P51812,Q96A33,Q8WVQ1,Q10469,P29084,O75844 6 |
| Increased adipose tissue 0.5824598117217438 0.6780717072490835 0.4977262286078163 1.0 0.8359903150590229 4 P31751 1 |
| Partial agenesis of the corpus callosum 0.4064478271237401 0.6720008562556924 0.501583151211145 1.0 0.8380326814465309 14 Q15392,Q9HC21 2 |
| Abnormality of the anus 0.3159744770025793 0.6710906961446734 0.5021627535778892 1.0 0.8380326814465309 43 P53701,P21964,Q9NX14,Q6NUK1,P16435,P16615 6 |
| Abnormal greater sciatic notch morphology 0.5540215472080594 0.6625599067367193 0.5076124552831671 1.0 0.8436272289109437 5 Q7RTS9 1 |
| Slow saccadic eye movements 0.4331602559116743 0.6597438407742724 0.5094182276845691 1.0 0.8463213630350601 11 P04062,Q8WWI5,Q8IV08 3 |
| Hypoplastic nipples 0.4328429219783807 0.6579300442952009 0.5105830839035237 1.0 0.8469662611861924 11 Q96A33,Q6NUK1 2 |
| Hydrocele testis 0.5214645349194623 0.6568654127125167 0.5112674594560582 1.0 0.8469662611861924 6 Q9UBX3 1 |
| Oral ulcer 0.4548505151797895 0.6563942393420082 0.5115704959967009 1.0 0.8469662611861924 8 Q7Z2Z2,Q9NZ08,Q8NBM4 3 |
| Difficulty standing 0.4876663004114604 0.6559757679906761 0.5118397156753747 1.0 0.8469662611861924 7 Q7RTS9 1 |
| Optic nerve dysplasia 0.6595478263522012 0.6548522847941926 0.512562863730069 1.0 0.8477939715687363 3 O43505 1 |
| Myopia 0.2762913984305172 0.6505742206327408 0.5153213760587934 1.0 0.8484559830728686 103 P49902,Q9Y487,O43292,Q15067,P40939,Q7Z2Z2,P29084,P12235,P17302,P51648,Q9H5K3,Q9NWM8,Q8NCH0,Q9UHX1,Q9NVI7,O15460,P21912,Q53H12,O43819,Q9Y4P3,Q9NX14 21 |
| Aplasia hypoplasia of the femur 0.3819540074582687 0.649810595802683 0.5158145737834752 1.0 0.8484559830728686 16 O75431,Q8WVQ1,Q9BV10,Q9UHX1,O95831 5 |
| Primitive reflex 0.5198793005785731 0.6497524350611058 0.5158521477421556 1.0 0.8484559830728686 6 P17900 1 |
| Abnormal pulmonary valve morphology 0.3925159558808622 0.6488575426407597 0.5164304598223541 1.0 0.8484559830728686 15 Q9BUB7,P21964 2 |
| Intellectual disability mild 0.2788299673259669 0.6484643119971059 0.5166846860329459 1.0 0.8484559830728686 133 Q9BUK6,Q15904,O43292,Q8WWV3,O75648,Q96N66,Q7LGA3,Q15800,Q7RTS9,P35610,Q6P4A7,Q9NZ01,Q9H5K3,Q8N0X7,Q9BT22,Q6NUK1,P16615,P00846,P51812,Q10713,P21964,Q01105 22 |
| Abnormality of peripheral nerves 0.3098526994562801 0.6479231534821421 0.5170346545930791 1.0 0.8484559830728686 46 P39210,Q99720,Q9UBB4,Q9NR77,O15269,O43681,P07602,Q8TB36,Q9NZJ7,Q8N2K0 10 |
| Abnormal subarachnoid space morphology 0.3319150721870925 0.645797389290926 0.5184105789841182 1.0 0.8492517958188165 32 P00403,Q9BV10,P03915,O75340,Q2TAA5,P03886,Q01105 7 |
| Abnormal blistering of the skin 0.3653937327980907 0.64127912082739 0.5213413520795271 1.0 0.8522247860251135 21 P51798,Q8NBM4,P17302,P36551,Q06136 5 |
| Dystrophic fingernails 0.4371614016300671 0.6390074884419743 0.5228180603672232 1.0 0.8530110330082203 10 O75844 1 |
| Supernumerary bones of the axial skeleton 0.5173855404777947 0.6385868791841675 0.5230917191456066 1.0 0.8530110330082203 6 Q9UHX1 1 |
| External ear malformation 0.368465921418406 0.6368315676546832 0.5242345614343715 1.0 0.8530540364976824 19 P40855,O96011,O75381,Q12756,Q8NCH0,P56589,P17302,P50542 8 |
| Polyhydramnios 0.3066463116787953 0.6364930803798239 0.5244550896582216 1.0 0.8530540364976824 52 P51798,P04062,O75844,Q9BV10,P21964,Q9UM00,Q70HW3,Q9NVI7,Q14739 9 |
| Eeg with focal epileptiform discharges 0.3183866833123844 0.6340728616919269 0.526033272646943 1.0 0.8542542499799949 37 Q96N66,Q9UBX3,Q5H8A4,Q9NZ01 4 |
| Pleuritis 0.5708645991232459 0.6316466762977662 0.5276177791178251 1.0 0.8551625977778121 4 Q8NBM4 1 |
| Pulmonary embolism 0.5708645991232459 0.6316466762977662 0.5276177791178251 1.0 0.8551625977778121 4 Q8NBM4 1 |
| Orchitis 0.5708645991232459 0.6316466762977662 0.5276177791178251 1.0 0.8551625977778121 4 Q8NBM4 1 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.5462980503364755 0.6300412839854669 0.5286675738764814 1.0 0.8557577315375803 5 P50402 1 |
| Adenocarcinoma of the small intestine 0.600125156445547 0.6293950886476083 0.5290904325332397 1.0 0.8559790243905182 2 Q6PD74 1 |
| Abnormal substantia nigra morphology 0.6522115179777265 0.627870664972496 0.5300886694518567 1.0 0.8559790243905182 3 P04062 1 |
| Coarse hair 0.3655189334617346 0.6274618108732207 0.5303565616240355 1.0 0.8559790243905182 20 Q9Y487,Q96A33,P51812,Q9Y276,Q9UM00,Q6NUK1 6 |
| Generalized joint laxity 0.4184174411972433 0.626662368416399 0.5308805763331672 1.0 0.8559790243905182 12 Q8NCH0,Q9UHX1 2 |
| Emg axonal abnormality 0.6517873798508693 0.6263193982804199 0.5311054652567129 1.0 0.8559790243905182 3 Q9Y223 1 |
| Beaking of vertebral bodies 0.4342141314521478 0.6227397224327641 0.5334555749070136 1.0 0.858867165296038 10 Q7RTS9,Q9UM00 2 |
| Abnormality of the musculature of the limbs 0.269469039462811 0.622725607250773 0.5334648521240777 1.0 0.858867165296038 165 Q9H3H5,O14979,Q16637,Q13126,P50402,Q99720,O95298,Q9Y487,Q15067,Q9HC21,P40939,Q14739,O75298,Q7RTS9,P39210,O60313,Q9NR77,O15269,P12235,O75340,Q8TB36,Q9H5K3,Q8N0X7,Q9BQT8,Q2TAA5,Q9NZJ7,Q3ZAQ7,P00846,P21912,P05023,O43819,Q969X5,P07602,P51530,Q13510 35 |
| Muscular hypotonia of the trunk 0.2935536766638323 0.6220871122525637 0.5338845888368691 1.0 0.8591978406873907 84 Q9H3H5,Q9NVI7,Q5XKP0,Q9NX14,O95298,O60313,P07602,Q96PU5,Q15043,Q9HC21,Q9NZJ7,Q2TAA5,Q96N66,P17900,O75880 15 |
| Neuroinflammation 0.5443132021588665 0.6217323867790643 0.5341178519254464 1.0 0.8591978406873907 5 Q9NZ08,Q8NBM4 2 |
| Unilateral renal agenesis 0.3663402212969349 0.6212282506678836 0.5344494541199134 1.0 0.8591978406873907 19 P16435,Q86XL3,Q9UHX1,Q7LGA3 4 |
| Ventriculomegaly 0.2649654119148066 0.6207747004210853 0.5347478715525491 1.0 0.8591978406873907 177 Q96CU9,Q9Y487,Q15392,Q9BV10,O95202,Q9HC21,Q9NPL8,P29084,O75340,Q9UM00,Q9H5K3,Q8NCH0,Q86XL3,Q9UHX1,P23786,Q9NZJ7,P00846,Q9UBM7,P04062,P51812,Q10713,P15291,P05023,O75306,O43819,P07602,Q9Y320,Q9NX14,Q96J42,Q01105 30 |
| Abnormal conjugate eye movement 0.2663834998184429 0.6207025692618902 0.5347953386382449 1.0 0.8591978406873907 321 Q96CU9,Q9H3H5,Q99720,Q7KZN9,O96000,Q9Y487,Q15392,Q9BV10,Q9Y6M9,Q15067,O95202,P51571,O43676,O75648,P40939,Q14739,P03886,Q86Y39,O95470,Q5H8A4,Q7LGA3,P40855,Q9NPL8,P51572,O60313,P29084,P12235,Q9P0J0,O15118,O75340,Q9UM00,Q9H5K3,Q9H061,Q9Y375,Q9H490,P38435,Q8NCH0,Q9BT22,Q9UHX1,Q8NI60,Q96PU5,Q2TAA5,Q9NZJ7,Q9NVI7,Q6NUK1,O75381,Q9UBM7,P04062,P51812,Q10713,O75306,P21964,O43819,P07602,P35637,Q9Y4P3,Q9NX14,P16435 58 |
| Impairment of activities of daily living 0.3053659421613104 0.6190670902475804 0.5358721623650362 1.0 0.8606260946220105 58 Q8WWI5,Q99720,Q9UBB4,P07196,P51812,O15269,P21964,Q8TAA9,O43681,P07602,P35637,Q9NZJ7,O75298 13 |
| Limited elbow movement 0.3181651300529187 0.6183113354489383 0.5363701311751492 1.0 0.8608223961627088 35 Q7RTS9,P50402,Q969X5,P23786,Q9H6K4,P37268,Q7LGA3 7 |
| Decreased head circumference 0.2691275471607536 0.6139209679256065 0.5392675536348923 1.0 0.8636574382226762 459 Q96CU9,Q9H3H5,Q99720,O95298,Q7KZN9,O96000,Q9Y487,Q15392,Q9BV10,Q10469,Q9Y6M9,Q9BPX6,Q9BUB7,O95202,Q9HC21,O43676,O15228,Q96N66,P51571,P03886,Q86Y39,Q06136,Q5H8A4,O95470,Q7LGA3,P50897,Q96AA3,Q15800,P40855,Q5XKP0,Q7RTS9,Q13144,P51572,Q96A33,P46977,O75340,P51648,Q5T8D3,Q8TCJ2,Q9NZ01,Q9H5K3,Q8N0X7,Q96JX3,O75845,Q9BT22,Q86XL3,Q9UHX1,Q9UG56,Q15043,P23786,Q9NZJ7,Q6NUK1,O75381,P21912,P04062,P53701,O75648,Q10713,P21964,P07602,Q9Y320,P51530,Q9NX14,Q96J42,P16435,Q01105 66 |
| Abnormal response to endocrine stimulation test 0.647830771080552 0.6118954193044022 0.5406069524952579 1.0 0.8648956202280976 3 Q13423 1 |
| Generalized muscle weakness 0.3247892190835907 0.6111814065982955 0.5410794912558878 1.0 0.8649813799134786 33 P21912,P12235,P35637,P10253,Q92804,O95831,P40939,Q15165,P54098 9 |
| Lower limb amyotrophy 0.364220904157123 0.6056986676475588 0.5447148689257326 1.0 0.8663254180554345 19 Q9H0B6,Q9NR77,O75298 3 |
| Scaling skin 0.4766764314824974 0.6030927810453884 0.5464469685626747 1.0 0.8687183593832658 7 O75352,O75844 2 |
| Abnormal ureter morphology 0.35072180520819 0.6022688229701114 0.5469952102384317 1.0 0.8688717342670668 25 Q96J42,O75844,P23786,Q7LGA3 4 |
| Focal white matter lesions 0.5091774983783937 0.602056145349634 0.5471367649530068 1.0 0.8688717342670668 6 P54098,P12235 2 |
| Neuronal loss in basal ganglia 0.509107084129892 0.6017442948336992 0.5473443602848431 1.0 0.8688717342670668 6 O75306,O43819 2 |
| Expressive language delay 0.422279783719116 0.5978393884593995 0.5499471059713157 1.0 0.8707179127714473 11 Q9UHX1 1 |
| Prolonged neonatal jaundice 0.3613630304595506 0.5964984486458037 0.5508422899331031 1.0 0.871501035265968 20 Q8WWI5,P39210,Q15904,O15118,P56589 5 |
| Abnormality of globe size 0.3028980335868678 0.5955565942584472 0.5514714809567645 1.0 0.871501035265968 62 O43505,P52732,O75431,Q9BUK6,P53701,O75569,P29084,Q9UHX1,Q6NUK1,P21964,P17302,Q9NX14,Q96J42,Q12797,Q9H5K3 15 |
| Increased blood pressure 0.2959385769941506 0.5930808607312053 0.5531270384963198 1.0 0.871501035265968 77 P42892,P21912,P04062,P00403,P35610,Q10713,O75844,P21964,P03915,Q9BUB7,Q8TAA9,P17302,P36551,Q9Y4P3,P03886,P16435,Q9NQH7 17 |
| Gingival bleeding 0.4213389524000391 0.5925166377110067 0.5535046829141939 1.0 0.871501035265968 11 P04062,Q14108 2 |
| Femoral bowing 0.4357798047000136 0.592472605737054 0.5535341596035503 1.0 0.871501035265968 9 Q7RTS9,Q32P28 2 |
| Deformed sella turcica 0.5069681551043324 0.5922844645771382 0.5536601171621425 1.0 0.871501035265968 6 Q7RTS9,P08236 2 |
| Neonatal onset 0.3564790354377056 0.589806109910918 0.5553206459756765 1.0 0.8723138598158235 22 Q9H490,Q9P032,Q15904,P49748,Q8TB36,P40939,Q13546 7 |
| Bruising susceptibility 0.336434929006175 0.5872441806373977 0.5570397240475846 1.0 0.8734962407891967 29 P51798,P38435,Q9NWM8,Q8NCH0,P04062,Q14108,P49257 7 |
| Hypoplasia of the uterus 0.4275232297368793 0.5859827371447308 0.5578871156277876 1.0 0.8745257488219372 10 P53701 1 |
| Abnormal corpus striatum morphology 0.3617242046268229 0.5847064560598398 0.5587451122648421 1.0 0.8751152551720343 17 P00846,O75306,O43819,O95169,O95831 5 |
| Abnormal brainstem morphology 0.284966908874313 0.5805438312758261 0.5615479376496992 1.0 0.8782145676061032 91 O43505,Q96CU9,Q9NPL8,Q9Y375,O96000,Q10713,O60313,O75306,Q9Y6M9,O43819,Q9Y320,O43676,Q9NX14,P03886,Q86Y39,Q9H5K3 16 |
| Neck flexor weakness 0.6383202969888137 0.5775878893841018 0.5635423852406272 1.0 0.879601788393323 3 Q99720 1 |
| Myalgia 0.3020824878003556 0.5774716636908811 0.5636208753214309 1.0 0.879601788393323 47 P46020,Q13586,Q93063,Q8NBM4,Q9BUK6,O60313,P49748,P12235,Q8NCE2,O15460,P51530,P21964,P23786,Q9NZ08,P40939,Q14739 16 |
| Distal arthrogryposis 0.5335732499143169 0.5771438133952397 0.5638423091096647 1.0 0.8796477563297527 5 Q8NCH0,Q96A33 2 |
| Abnormality of nail color 0.5545632252880159 0.5675883554079444 0.5703145158962615 1.0 0.8848434000809227 4 P17302,P16615 2 |
| Leukonychia 0.5545632252880159 0.5675883554079444 0.5703145158962615 1.0 0.8848434000809227 4 P17302,P16615 2 |
| Red green dyschromatopsia 0.6354340745032212 0.5672827827181411 0.5705220726407438 1.0 0.8848434000809227 3 Q9H6K4 1 |
| Encephalocele 0.3799457757876398 0.566306930037573 0.5711851502551442 1.0 0.8848434000809227 15 Q10713,Q9H5K3 2 |
| Anarthria 0.5009690257725861 0.5658921289909522 0.5714671125352133 1.0 0.8848434000809227 6 Q8WVX9,P35637,Q99720 3 |
| Nocturia 0.6346634411656661 0.5645399859573866 0.5723866952945995 1.0 0.8848434000809227 3 P12235 1 |
| Multiple mitochondrial dna deletions 0.6346634411656661 0.5645399859573866 0.5723866952945995 1.0 0.8848434000809227 3 P12235 1 |
| Dry hair 0.5535806630744962 0.5637773564428475 0.5729056639446843 1.0 0.8853469653269962 4 P17302 1 |
| Flat face 0.3431817878568295 0.5631303539974564 0.5733461234825086 1.0 0.8857289068768895 26 P40855,O75381,Q9Y487,Q9BUB7,P08236,Q9NX62,Q9UM00 7 |
| Contractures involving the joints of the feet 0.3587464135546635 0.5567002280024668 0.5777322611220062 1.0 0.8901305141092112 18 P49902,P50402,Q9BTV4,O60313,Q8N2K0 5 |
| Convex nasal ridge 0.3559113843726499 0.5560601306814192 0.5781697491813582 1.0 0.8901305141092112 20 Q6NUK1,Q10469,O75844,P51530 4 |
| Pulmonary fibrosis 0.3541291536781809 0.55602168352871 0.5781960316609918 1.0 0.8901305141092112 21 P09601 1 |
| Malrotation of small bowel 0.5514510438979177 0.5555382510360062 0.5785265541285969 1.0 0.8901305141092112 4 Q8NCH0 1 |
| Hepatic fibrosis 0.32211279370432 0.554263964487214 0.5793982082646236 1.0 0.8904506513439877 32 P04062,Q10713,Q13510 3 |
| Intrauterine growth retardation 0.2653993228041561 0.5540977219718296 0.579511969076336 1.0 0.8904506513439877 201 Q96CU9,Q9Y487,O96000,Q15392,Q9BV10,Q9Y6M9,Q9BUB7,O95202,O43676,P40939,P03886,Q86Y39,Q5H8A4,Q9NPL8,Q9NXE4,P51572,O75844,P29084,Q6P4A7,Q9Y276,Q8TCJ2,Q16836,Q9NSD9,Q86SQ9,Q9Y375,O75208,O75845,P51798,P61619,Q9BT22,Q8WVQ1,Q9UHX1,P37268,Q6NUK1,Q9UBM7,P21912,P04062,O75306,P21964,Q9NX14,O75880 41 |
| Decreased proportion of cd4 positive helper t cells 0.4980745836466855 0.5532359316283738 0.5801018656179804 1.0 0.8905729758504616 6 Q13432 1 |
| Abnormality of chromosome segregation 0.5275521400958756 0.5524412128185536 0.5806461009447887 1.0 0.8905729758504616 5 Q14739,P17302 2 |
| Abnormality of the nasolabial region 0.4658025981526554 0.5514272144813548 0.5813408491420189 1.0 0.8905729758504616 7 Q8NCH0 1 |
| Prominent nasolabial fold 0.4658025981526554 0.5514272144813548 0.5813408491420189 1.0 0.8905729758504616 7 Q8NCH0 1 |
| Angiokeratoma 0.6294209702660418 0.5459811691726841 0.5850788814510475 1.0 0.8937071326367827 3 P04066,P06280 2 |
| Decreased muscle mass 0.3572053063903566 0.5456835483697994 0.5852834825788034 1.0 0.8937071326367827 18 Q8NCH0,Q8TAA9,Q9Y487 3 |
| Coxa vara 0.3864381707656305 0.5456053995741595 0.5853372119255751 1.0 0.8937071326367827 14 Q7RTS9,Q93063,Q9Y487,Q8WVQ1,O95831,O75718 6 |
| Abnormal hepatic iron concentration 0.6292159263649091 0.5452588972211972 0.5855754689770019 1.0 0.8937730842280555 3 Q658P3 1 |
| Abnormal pons morphology 0.350562883077527 0.544384528937002 0.586176889827648 1.0 0.8942238573822618 22 Q9H5K3 1 |
| Abnormality of the metacarpal bones 0.3079743645516062 0.5442621001831128 0.5862611234343769 1.0 0.8942238573822618 39 Q7RTS9,Q9UBM7,P51798,Q14739,P51812,O95202,Q9NX62,Q6NUK1,P16435,Q32P28 10 |
| Abnormalities of placenta or umbilical cord 0.3861446296261009 0.5437705401390631 0.5865993837822601 1.0 0.8944420554044312 14 O75844 1 |
| Gastrointestinal obstruction 0.385799298198985 0.54161279135831 0.5880852781154058 1.0 0.8955157010052474 14 P42892,Q01844,P21912 3 |
| Perimembranous ventricular septal defect 0.4636491977914694 0.5412834826016697 0.5883122035274879 1.0 0.8955636267650995 7 Q9UHX1 1 |
| Abnormality of the tarsal bones 0.3274422802481305 0.5396441605543622 0.5894424556978635 1.0 0.8965561357293478 30 Q7RTS9,O75844,Q9UHX1,Q969X5,P40939,Q14739 6 |
| Eeg with spike wave complexes 0.3945736483511418 0.5388228241646781 0.5900091131639711 1.0 0.8965561357293478 13 Q9NQZ5,O75503,Q14108 3 |
| Hyperactive deep tendon reflexes 0.4185201633345384 0.5369564261205595 0.5912977131070747 1.0 0.8974544330878442 10 Q9NR77,P21912 2 |
| Abnormal urine cytology 0.3080320156332828 0.536928366501075 0.5913170959171108 1.0 0.8974544330878442 38 P09601,P04062,P21912 3 |
| Autistic behavior 0.2625141813281216 0.5353712605494786 0.5923931591247666 1.0 0.897463020448986 187 Q96CU9,Q9H3H5,O95298,O96000,Q9Y6M9,Q15067,O43676,O75648,Q96N66,P03886,Q86Y39,Q5H8A4,Q7LGA3,O75503,Q9NPL8,Q5XKP0,Q9P0J0,Q9NZ01,Q9Y375,Q9UHX1,Q2TAA5,Q9UBM7,P21912,P51812,O75306,P21964,Q9Y4P3,Q9NX14,Q01105 29 |
| Abnormal intraocular pressure 0.4938223613216119 0.534739542574259 0.5928299740297276 1.0 0.897463020448986 6 Q8NCH0,Q15043,P04439 3 |
| Bilateral microphthalmos 0.4936999804340187 0.5342089668612139 0.5931969659904879 1.0 0.897463020448986 6 Q9UHX1 1 |
| Mandibular prognathia 0.3076709056555509 0.5332756488789816 0.5938427816818246 1.0 0.897463020448986 38 Q7RTS9,P52732,Q9NXE4,Q9BUK6,P51812,Q9UHX1,P17302,Q8NFG4,Q9NVI7,Q6NUK1,Q14696 11 |
| Abnormality of the gastric mucosa 0.3647222512299705 0.5322806364358872 0.5945316413570514 1.0 0.8981449097663703 16 Q15056,Q8N5K1,P04062,Q6PGP7,Q9Y4P3,Q14739,O76024,Q13546 8 |
| Craniofacial osteosclerosis 0.625427726702966 0.5319649108458834 0.5947502984619062 1.0 0.8981449097663703 3 Q15043 1 |
| Breech presentation 0.4615365677552123 0.531362183220603 0.5951678220195471 1.0 0.8981449097663703 7 Q969X5,O60313,Q9UBM7 3 |
| Azoospermia 0.4012045818464392 0.5261941705583197 0.598753303904781 1.0 0.9000617350057251 12 P04062,Q13423 2 |
| Eyelid myoclonus 0.4165087814166407 0.5260792971219213 0.5988331123784274 1.0 0.9000617350057251 10 Q13510 1 |
| Abnormality of primary teeth 0.3737387296998748 0.5259426862370901 0.5989280292519545 1.0 0.9000617350057251 15 P51798,O75844,P17302,Q8NC56,Q9UM00,P53634 6 |
| Abnormality of iron homeostasis 0.4914981155025408 0.5246801792185505 0.599805538302207 1.0 0.9009958570427428 6 Q658P3,Q9Y276 2 |
| Peroneal muscle atrophy 0.6229579138856167 0.523349590159983 0.600730997290956 1.0 0.9009958570427428 3 Q9NR77 1 |
| Short thorax 0.5429895386065664 0.5230962423680557 0.6009072803074442 1.0 0.9009958570427428 4 Q7RTS9 1 |
| Shallow orbits 0.4226028878249773 0.5229593499608233 0.6010025417251377 1.0 0.9009958570427428 9 O75431,Q8NC56,O75844 3 |
| Abnormal uvea morphology 0.2686491888624401 0.5224209145947568 0.6013772971507778 1.0 0.9009958570427428 104 O43505,P14174,Q13586,O95202,P40939,Q12797,Q5H8A4,Q86YV9,Q7LGA3,P40855,Q5XKP0,P52732,Q9NR77,O75340,P56589,P17302,Q9H5K3,Q9UHX1,P04439,O75381,Q9UBM7,P21912,P53701,Q10713,Q9Y4P3,Q9NX14,Q96J42 27 |
| Nausea and vomiting 0.2700235845889892 0.5222836670767378 0.6014728394129556 1.0 0.9009958570427428 146 Q96CU9,Q8NBM4,O96000,Q9Y6M9,P51571,O43676,O75648,P40939,Q13423,P03886,Q86Y39,Q9NPL8,P39210,P00403,P35610,P11117,Q16836,Q9Y375,P03915,P23786,Q9NZJ7,Q2TAA5,Q15165,P42892,P00846,Q9UBM7,P21912,O75306,P07602,P35637,Q9Y4P3,Q92804,Q9NX14 33 |
| Ulnar deviation of the wrist 0.519916834428323 0.5214506670607044 0.6020528634916678 1.0 0.9009958570427428 5 Q9BV10 1 |
| Recurrent respiratory infections 0.2715008979246902 0.5210579951920886 0.6023263712332383 1.0 0.9009958570427428 122 Q9UJW0,P14174,Q16637,O95298,Q9Y487,Q10469,Q9BV10,O95202,P10253,Q5H8A4,Q86YV9,Q13546,Q9NPL8,Q7RTS9,P09601,P29084,Q9H936,Q15056,P15586,P51798,Q03519,Q9NZJ7,O15460,P04062,Q9H0U3,Q13432,P07602,P08236,Q9Y4P3,Q13510,P53634,Q8N5M9 32 |
| Aplasia hypoplasia affecting the eye 0.2729148605788594 0.5200706316153109 0.6030143468198179 1.0 0.9009958570427428 99 O43505,Q13586,P07196,O95202,P61978,Q12797,Q86YV9,Q7LGA3,P52732,Q02978,O75569,P29084,P17302,Q9H5K3,Q15056,Q9UHX1,Q9NVI7,P37268,Q6NUK1,Q9UBM7,P21912,P53701,P21964,Q9Y4P3,Q9NX14,Q96J42 26 |
| Fatigable weakness of respiratory muscles 0.3726651357143672 0.5189925394234588 0.6037659438730207 1.0 0.9016658843915262 15 Q15165,Q92804 2 |
| Foot dorsiflexor weakness 0.3079301431442963 0.5173453713019299 0.6049150869968467 1.0 0.9016658843915262 35 Q9BQT8,P39210,Q99720,Q9NR77,O15269,P05023,O43819,Q8TB36,Q14739 9 |
| Increased muscle glycogen content 0.6209877413439275 0.5165072441240208 0.6055001807374172 1.0 0.9022444969557222 3 O75648 1 |
| Narrow mouth 0.2949670726416873 0.5136070490330353 0.6075267502437902 1.0 0.9025806292296636 67 P04062,Q8NCH0,Q9Y487,Q15392,O75844,P21964,Q9NX62,Q9NVI7,Q6NUK1,P16435,Q7LGA3 11 |
| Broad alveolar ridges 0.6199866790245222 0.513040972342886 0.6079226604492036 1.0 0.9025806292296636 3 Q9UBM7 1 |
| Aplasia hypoplasia involving the vertebral column 0.3714778453031057 0.5113178687683683 0.6091284948128672 1.0 0.9032449071950024 15 Q7RTS9,Q8TAA9,P08236,O95831,Q14739,Q15738 6 |
| Abnormal vitamin b12 level 0.4570786669265759 0.5105299870179626 0.609680211691602 1.0 0.9035151746938122 7 P41440 1 |
| Abnormality of the calcaneus 0.4196675034857076 0.5076393531245185 0.611706287062872 1.0 0.9053773923745052 9 Q7RTS9,Q14739 2 |
| Focal myoclonic seizure 0.4257796168019294 0.5068373686629877 0.612268934090908 1.0 0.9053773923745052 8 O75503,P21912 2 |
| Postaxial polydactyly 0.3490155159142518 0.5052540241654401 0.6133804300586512 1.0 0.9056799637723508 20 Q7Z4L5,Q14739,Q10713,Q96J42 4 |
| Abnormal femoral neck morphology 0.3061509858277348 0.5050781908429849 0.61350391864865 1.0 0.9056799637723508 36 Q7RTS9,O75431,Q9Y487,Q96A33,Q8WVQ1,Q10469,O75844,P29084,P51812,O75718 10 |
| Abnormal vertebral morphology 0.2687566355533895 0.5050298237238828 0.6135378890330374 1.0 0.9056799637723508 109 Q9BV10,Q8TAA9,O95202,O15228,Q14739,Q5H8A4,Q7Z2Z2,Q7RTS9,P17302,Q14108,Q9UM00,O75718,P15586,O75845,P51798,Q8NCH0,Q9UHX1,Q6NUK1,Q32P28,Q9UBM7,P04062,P10619,P51812,Q10713,P08236,Q9Y4P3,P16435 27 |
| Aplasia hypoplasia of the optic nerve 0.3472006559180999 0.5040697172992057 0.6142123862304762 1.0 0.9060707982360272 21 P37268,Q9UHX1,Q9H5K3 3 |
| Abnormal neural tube morphology 0.3021659731814274 0.5023524973082423 0.6154195873372093 1.0 0.9069966385265658 41 Q10713,P21964,Q9HC21,Q9UHX1 4 |
| Abnormality of facial soft tissue 0.270432743336729 0.500922340175352 0.6164257792835532 1.0 0.9081874343013636 124 Q9H3H5,Q9BUK6,P07196,Q10469,O15020,P40855,O60313,O75844,P12235,O75340,P56589,Q86VD7,Q9BQT8,Q12769,P51798,Q9UHX1,Q15043,O75381,Q9UBM7,P21912,P04062,P51812,O43819,P51530,Q9Y4P3,Q13510,P16435 27 |
| Skin erosion 0.4240376646272611 0.4980547771181499 0.6184454339512042 1.0 0.9103436249437244 8 O75844 1 |
| Type 1 muscle fiber atrophy 0.4850686095731858 0.4970500969178116 0.6191537241982594 1.0 0.9103436249437244 6 P50402,Q9BTV4 2 |
| Posteriorly rotated ears 0.26931432897776 0.4966829075015039 0.6194126776488909 1.0 0.9103436249437244 115 O43505,Q15392,Q10469,O95202,Q5H8A4,Q7LGA3,P40855,Q9NXE4,Q4J6C6,P56589,Q9UM00,Q9H5K3,Q9H490,Q8NCH0,Q9UHX1,P23786,Q6NUK1,P37268,P42892,O75381,Q9UBM7,P04062,Q10713,Q9Y4P3,Q96J42,P16435 26 |
| Limb girdle muscular dystrophy 0.4237465370273964 0.4965892942657614 0.6194787041847518 1.0 0.9103436249437244 8 O14979,P50402 2 |
| Megalocornea 0.3873074571491778 0.4953564916103967 0.6203485008639598 1.0 0.9105526053074868 13 O95202,Q5H8A4,Q9H5K3 3 |
| Cerebral cortical atrophy 0.2666897116337303 0.4949795836499467 0.6206145321639636 1.0 0.9105526053074868 103 Q96AA3,O75503,Q9H3H5,Q9NWS8,P00846,O96008,P00403,P04062,P51572,P51812,P29084,Q9BUB7,P03915,Q9UM00,O75648,P03886,Q7LGA3 17 |
| Bulbous nose 0.2994315163602229 0.4944529215506696 0.6209863469035612 1.0 0.9106021369661992 43 P42892,O75431,O75845,Q93063,Q9NXE4,Q96A33,P21964,P23786,P16435 9 |
| Agitation 0.3053365545191584 0.4919337115038866 0.6227662056449594 1.0 0.9117581569103578 35 P42892,O96008,P04062,P35610,Q92804,Q15165 6 |
| Pleural effusion 0.386455210236456 0.4902873720032574 0.6239305616147304 1.0 0.9122047968470628 13 P14174,Q8NBM4,Q14739,Q9NZ08 4 |
| Hyperconvex nail 0.4522307366533806 0.4880423300377461 0.6255198582899784 1.0 0.91320358422719 7 P42892,O95202 2 |
| Brisk reflexes 0.3409733654702501 0.4876932908310756 0.6257671046872453 1.0 0.91320358422719 23 O00483,Q99720,Q10713,Q8NI60,P35637,P20674 6 |
| Dysuria 0.4219228957036099 0.4874248879822971 0.6259572599158396 1.0 0.91320358422719 8 Q8N0X7,O76024,O00170 3 |
| Dolichocephaly 0.3116060292053718 0.4863947376616893 0.6266873208803059 1.0 0.91320358422719 33 P40855,Q7RTS9,O75381,Q10469,Q4J6C6,Q969X5,O95202,Q5H8A4 8 |
| Abnormality of facial musculature 0.2838875223287949 0.4863187499666246 0.6267411873729167 1.0 0.91320358422719 84 Q9H3H5,Q9BUK6,P07196,O15020,P40855,O60313,P12235,O75340,P56589,Q86VD7,Q9BQT8,P51798,Q9UHX1,Q15043,O75381,P04062,P51812,O43819,P51530,Q13510 20 |
| Narrow forehead 0.2933442004929912 0.486073063089007 0.6269153645927403 1.0 0.91320358422719 51 Q9H490,O75845,Q96A33,Q9UHX1,Q7LGA3 5 |
| Genu valgum 0.3081921621020421 0.485665082607555 0.6272046441647681 1.0 0.91320358422719 34 Q8N0X7,Q7RTS9,P51798,Q9NR77,P08236,Q9NX62,Q9Y4P3,Q7LGA3 8 |
| Diplopia 0.3457708177654392 0.4815027973316205 0.6301591920801106 1.0 0.9150286054771978 20 O14773,P04062,P53007,O15020,P18074,O00170,O15460 7 |
| Bronchitis 0.5088700584510542 0.4773384607766429 0.6331211277391953 1.0 0.9167409583813964 5 Q03519 1 |
| Spastic dysarthria 0.4137243389447034 0.4768301398656099 0.633483081650541 1.0 0.9167409583813964 9 Q8N0X7,Q8WVX9,Q9Y4W6 3 |
| Neoplasm of the skin 0.2987514256558938 0.4766158923106205 0.633635664599276 1.0 0.9167409583813964 42 P11802,P14324,P21912,P29084,P17302,Q8NFG4,P53634,Q06136,P16615 9 |
| Hypermetric saccades 0.6092125880531811 0.4761938836077372 0.6339362565710889 1.0 0.9168863407855836 3 O14773 1 |
| Proximal muscle weakness in upper limbs 0.375098620254345 0.475241129471338 0.6346151145383319 1.0 0.917578559423994 14 P07196,P36551,P50402,Q9BTV4 4 |
| Focal motor seizure 0.3412994669430715 0.4738863739744499 0.6355809364712914 1.0 0.9186338168175344 22 Q9H936,O75503,Q9H3H5,P21912,Q9UBB4,Q08209,Q8WVX9,Q01105 8 |
| Abnormality of the cerebral subcortex 0.2502855805592308 0.4694100492554764 0.6387765666740235 1.0 0.9221405886894692 370 P49902,Q96CU9,Q9H3H5,O95298,Q7KZN9,Q15392,Q9BV10,Q9BPX6,Q9BUB7,Q15067,O95202,Q9HC21,P51571,O75648,Q96N66,P03886,Q5H8A4,Q7LGA3,Q96AA3,O75503,P00403,P51572,Q96A33,O60313,P29084,P12235,Q9P0J0,O75340,Q9UM00,P17900,Q9NZ01,Q9H5K3,Q9UBX3,Q9H490,Q86XL3,Q9UHX1,P03915,O43681,Q8NI60,Q96PU5,Q15043,P23786,Q9NZJ7,Q2TAA5,Q9NVI7,P37268,Q6NUK1,Q9NWS8,P00846,Q9UBM7,P21912,P04062,P53701,P51812,Q10713,O75306,P07602,Q9Y320,Q9NX14,Q96J42,Q01105 61 |
| Decreased serum complement c3 0.5575719649561838 0.4667346329331459 0.6406897481660758 1.0 0.923057253066402 2 Q05655 1 |
| Dilated fourth ventricle 0.2986649752274266 0.4660703310041426 0.6411651591949745 1.0 0.923057253066402 41 Q9UBM7,Q9Y487,P15291,Q10713,P23786,Q96J42,Q9H5K3 7 |
| Abnormal urine alpha ketoglutarate concentration 0.4472471699817069 0.4651191916721909 0.6418461031057618 1.0 0.923057253066402 7 P21912 1 |
| Titubation 0.404878702463116 0.4638085562162004 0.642784912645554 1.0 0.923057253066402 10 Q5T8D3,Q99720 2 |
| Decreased specific antibody response to vaccination 0.526863705955929 0.4626885943173505 0.6435875948938419 1.0 0.923057253066402 4 Q9BV10 1 |
| Deep palmar crease 0.3816765893214222 0.4619872365425211 0.6440904733946549 1.0 0.923057253066402 13 O75431,Q9Y487,P61978,O00170,Q6NUK1 5 |
| Abnormal morphology of the abdominal musculature 0.3978766799424427 0.4617605137945988 0.6442530700787021 1.0 0.923057253066402 11 Q8NCH0,Q6NUK1 2 |
| Elbow flexion contracture 0.3307511132677104 0.4612818133658837 0.6445964312049806 1.0 0.923057253066402 26 P50402,Q969X5,P23786,P37268,Q7LGA3 5 |
| Epistaxis 0.3636410779313048 0.460988270142586 0.6448070207128052 1.0 0.923057253066402 15 Q13586,P38435,P04062,P49257,O15460 5 |
| Hypoplastic heart 0.5259628279045463 0.4593733511969798 0.6459660816488619 1.0 0.923057253066402 4 P17302 1 |
| Abnormality of female external genitalia 0.3019823579133137 0.4591990149125865 0.6460912579121478 1.0 0.923057253066402 35 P40855,O75381,Q9UBM7,P53701,Q15392,Q9NX14,Q6NUK1,P16435 8 |
| Dental crowding 0.3117652797428752 0.4586330263592577 0.6464977158842655 1.0 0.923057253066402 32 O75431,Q9UBM7,P51812,Q96A33,Q10469,O75844,P17302,Q92643,Q01105 9 |
| Lower limb muscle weakness 0.2970103841941003 0.4584208573152787 0.6466501097668422 1.0 0.923057253066402 42 P00846,Q9NR77,Q969X5,Q13510,P40939,O75298 6 |
| Skeletal dysplasia 0.2937995117886015 0.4580374140253894 0.6469255617729395 1.0 0.923057253066402 45 P40855,Q7RTS9,Q7Z2Z2,Q7Z4L5,O75381,P10619,P56589,P17302,P51648,Q14739 10 |
| Abnormal sella turcica morphology 0.4099776594101675 0.4575610780909173 0.6472678119272492 1.0 0.923057253066402 9 Q7RTS9,P08236 2 |
| Vocal cord paralysis 0.3424707282120078 0.4574602810383387 0.6473402447645888 1.0 0.923057253066402 20 P50402,P21912,Q9BTV4,Q9NR77,Q8TB36 5 |
| Abnormal corpus callosum morphology 0.2638359485438108 0.457096934739151 0.6476013734026775 1.0 0.923057253066402 281 P49902,Q9H3H5,Q15392,Q9BV10,Q9BUB7,O95202,Q9HC21,O75648,P51571,Q96N66,P03886,Q5H8A4,Q7LGA3,O75503,P00403,P51572,Q96A33,O60313,P29084,O75340,Q9NZ01,Q9H5K3,Q9UBX3,Q9H490,Q86XL3,Q9UHX1,P03915,Q96PU5,P23786,Q9NZJ7,Q9NVI7,P37268,Q6NUK1,P04062,P53701,Q10713,P07602,Q9Y320,Q9NX14,Q96J42,Q01105 41 |
| Increased serum iron 0.5245711007937895 0.4542648441572693 0.6496382162934013 1.0 0.9235219132616088 4 Q658P3 1 |
| Cervical spine instability 0.5538172715894751 0.4532043424060689 0.650401605876544 1.0 0.9235219132616088 2 Q99575 1 |
| Abnormality of the phalanges of the hallux 0.6023503722836969 0.4531846231357299 0.6504158040364931 1.0 0.9235219132616088 3 Q8WVQ1 1 |
| Abnormal arachnoid mater morphology 0.4087133906801769 0.4510873630100422 0.6519265851552203 1.0 0.9237218110687282 9 Q9NQH7,Q9UHX1 2 |
| Contractures of the joints of the upper limbs 0.2889241112524637 0.4509719583010746 0.6520097595818526 1.0 0.9237218110687282 70 P42892,P50402,Q99720,P07196,Q15392,O75844,Q9NR77,Q9BUB7,Q969X5,P17302,P35637,P23786,P37268,P16435,Q7LGA3 15 |
| Abnormal cerebral ventricle morphology 0.2631199514151088 0.4494192647276488 0.6531292367195691 1.0 0.9245940620185517 228 Q96CU9,Q9Y487,Q15392,Q9BV10,Q8TAA9,O95202,Q9HC21,Q5H8A4,P40855,Q9NPL8,P29084,O75340,Q9UM00,Q9H5K3,Q9H490,P51798,Q8NCH0,Q86XL3,Q9UHX1,P23786,Q9NZJ7,Q6NUK1,P00846,Q9UBM7,P04062,P53701,P51812,Q10713,P15291,P05023,O75306,P21964,O43819,P07602,Q9Y320,P08236,Q9NX14,Q96J42,P16435,Q01105 40 |
| Abnormal anterior eye segment morphology 0.2604481966944413 0.4487949557530759 0.653579577881676 1.0 0.9245940620185517 314 O43505,Q9H3H5,O14979,Q8NBM4,Q8WWV3,Q9BUB7,O95202,O15228,P08670,O75648,Q8N2K0,Q14739,P03886,Q06136,Q5H8A4,Q7LGA3,P40855,Q15800,P39210,P00403,O60313,O75844,Q9NR77,P29084,P12235,O75340,Q96HR9,P51648,Q9H5K3,O75845,Q9NWM8,Q8NCH0,Q9UHX1,P03915,Q03519,P23786,Q2TAA5,Q9NVI7,Q6NUK1,O75381,Q9UBM7,P21912,P04062,P53701,P10619,Q10713,P51812,Q53H12,P21964,P08236,Q9Y4P3,Q13510,Q9H6K4,Q9NX14,Q96J42,Q9Y287 56 |
| Upper limb asymmetry 0.5516270337922325 0.4453812692817383 0.6560442459798879 1.0 0.925776019427116 2 Q15555 1 |
| Muscle fibrillation 0.3426705672611356 0.4428558986650115 0.6578699681284004 1.0 0.9269856023659332 18 Q9NWS8,Q9BQT8,Q16637,Q13510,O95831 5 |
| Rimmed vacuoles 0.3605882297962414 0.4415501225593281 0.6588147836553757 1.0 0.9269856023659332 15 O14979,P50402,Q9BTV4,Q9Y5L0,P22626 5 |
| Motor regression 0.5503754693366589 0.4409343665668055 0.659260513056728 1.0 0.9269856023659332 2 P11766 1 |
| Aplasia hypoplasia affecting the fundus 0.3326789542093524 0.4392323295607684 0.6604932016671536 1.0 0.9270266489753262 24 P07196,Q9UHX1,P61978,Q9NVI7,P37268,Q9H5K3 6 |
| Increased skull ossification 0.5497496871088743 0.4387173655329376 0.6608663426168162 1.0 0.9271554139223062 2 P54802 1 |
| Axonal regeneration 0.5196820132197807 0.4364472732173887 0.6625122467017386 1.0 0.9285695387536234 4 Q8TB36 1 |
| Skeletal myopathy 0.4983069871334435 0.436045709993246 0.6628035654818913 1.0 0.9285695387536234 5 P21912 1 |
| Abnormal mitral valve physiology 0.2904434044007448 0.4345801195206455 0.6638672279614917 1.0 0.9294025347628232 46 O75431,Q8NBM4,P04062,P53701,P51812,O75844,O75306,O43819,P17302,Q9Y4P3,Q9NX14,P40939 12 |
| Abnormality of the plantar skin of foot 0.2970497217370909 0.4332881592753977 0.6648054391639273 1.0 0.9294025347628232 39 P42167,Q06136,P21912,P16615 4 |
| Exaggerated startle response 0.3990251275784076 0.4329150383335634 0.665076494435203 1.0 0.9294025347628232 10 Q9H0B6 1 |
| Subcapsular cataract 0.4108875193231819 0.4325771927399078 0.6653219615560193 1.0 0.9294025347628232 8 Q8N2K0,Q9H6K4 2 |
| Ectopic kidney 0.3589605661579446 0.4312283954698797 0.6663023090918136 1.0 0.9296580938668362 15 Q8TAA9,P51530,Q9UHX1 3 |
| Anonychia 0.384368428077768 0.4301306082982316 0.6671006358302585 1.0 0.9301034691317748 12 Q14739,P16615 2 |
| Feeding difficulties 0.2541403845852763 0.428878291442764 0.6680117991504491 1.0 0.9301034691317748 347 Q96CU9,Q9H3H5,Q99720,Q9Y487,O96000,Q15392,Q9BV10,Q10469,Q9Y6M9,Q9HC21,O43676,P51571,Q96N66,P40939,P03886,Q86Y39,Q5H8A4,O75648,Q7LGA3,Q96AA3,P40855,Q9NPL8,Q5XKP0,Q96A33,O60313,P46977,Q9UM00,O14678,Q8TCJ2,Q16836,Q9NZ01,Q9H5K3,Q7Z4L5,Q9Y375,Q9H490,Q96JX3,Q9UHX1,O43681,P23786,Q9NZJ7,Q2TAA5,Q9NVI7,P37268,Q6NUK1,Q9NWS8,O75381,Q9UBM7,Q9UGP8,P21912,P04062,P53701,P51812,Q10713,O75306,P21964,Q969X5,P07602,O43819,P35637,Q13510,Q9NX14,Q01105,O75880 63 |
| Arachnodactyly 0.30539372683903 0.4282941201117899 0.6684369992508588 1.0 0.9301034691317748 33 Q9H3H5,Q8NCH0,P21964,P16435,Q5H8A4 5 |
| Hepatic encephalopathy 0.5165936130244289 0.4252979101317413 0.6706195168493916 1.0 0.9306049420727176 4 Q9UJS0,A2RRP1,Q6NUQ1 3 |
| Arterial thrombosis 0.4384722123370758 0.425274288182697 0.6706367347717401 1.0 0.9306049420727176 7 O15460,Q8NBM4 2 |
| Diarrhea 0.2864148320905779 0.4241421007278346 0.6714621833085554 1.0 0.9311863571185838 71 P42892,Q7Z2Z2,P03886,P39210,P00403,P35610,Q96A33,Q15904,Q9BT22,P50416,P03915,P36551,Q13510,P40939,Q13423,Q16836,Q14566 17 |
| Adrenal insufficiency 0.31754504633728 0.4231860376124088 0.6721595329520285 1.0 0.9315341791691536 29 P40855,O96011,O75381,Q658P3,P56589,Q9H0R6,O00170,Q13423,P16435,P50542,O95470 11 |
| Urinary glycosaminoglycan excretion 0.4379582210377859 0.4229621172838113 0.6723229005919666 1.0 0.9315341791691536 7 P04066,P08236,P15586 3 |
| Abnormal skin morphology of the palm 0.2732071150686699 0.4197523166493013 0.6746664020715252 1.0 0.9318486889463636 92 P40855,Q9H3H5,O75431,Q9NXE4,O75381,P21912,Q8NCH0,Q9Y487,P51812,Q6NUK1,Q9UHX1,P56589,P42167,O95202,Q14739,Q06136,P16615 17 |
| Eeg with generalized slow activity 0.396480109371465 0.4195872808084549 0.674786981650815 1.0 0.9318486889463636 10 Q9H3H5 1 |
| Abnormality of metacarpal epiphyses 0.4935537471754972 0.4177734312671178 0.6761127780293021 1.0 0.9323583389657036 5 P16435,O95202 2 |
| Abnormality of long bone morphology 0.2561088461878358 0.417180562698796 0.6765463413480699 1.0 0.9323583389657036 172 O75431,Q13126,Q9Y487,Q10469,Q9BV10,O95202,O15228,O75648,Q14739,Q7LGA3,Q7Z2Z2,P40855,Q7RTS9,O75844,Q9NR77,P56589,P17302,O75718,Q9H936,Q7Z4L5,Q8N0X7,Q9H490,P51798,P38435,Q9UHX1,Q9UG56,P37268,Q32P28,O75381,Q9UBM7,P51812,P08236,Q9NX62,Q9Y4P3,Q96J42,P16435 36 |
| Acne 0.3655384973020004 0.4168720535591604 0.6767719957518812 1.0 0.9323583389657036 14 O00170,Q8NBM4,P21964,Q9NZ08 4 |
| Abnormal circulating dicarboxylic acid concentration 0.2910576058462546 0.4168557777957095 0.6767839012221586 1.0 0.9323583389657036 44 P41440,P40855,Q9NSD9,P28288,Q16134,O75845,Q9Y5L0,P55263,P37268,Q9UGP8,Q9UJS0,Q96DA6,P36551,P23786,O75648,O14678,Q14739 17 |
| Cerebellar vermis atrophy 0.3887383193128496 0.412101864531466 0.6802647621103288 1.0 0.9338471921244296 11 Q96S52,Q8WVX9,Q10713 3 |
| Constitutional symptom 0.2623661161419995 0.4108925084682388 0.6811513559262776 1.0 0.9338471921244296 251 P14174,P50402,Q9BUK6,Q99720,Q8NBM4,P07196,Q8TAA9,Q9BRK0,P40939,Q14739,Q13423,O75298,Q14566,Q8WWI5,Q15800,P35610,O60313,O75844,Q9NR77,O15269,Q4J6C6,Q3ZCQ8,P12235,P36551,Q14108,Q70HW3,Q12769,P51798,Q658P3,Q9UBB4,O43681,Q15043,P23786,Q9NZJ7,O15460,Q15165,P42892,P00846,Q9UGP8,P21912,P04062,P51812,Q53H12,P21964,P07602,P51530,P35637,Q9Y4P3,Q13510,Q9H6K4,Q92804,P50416,Q01844 53 |
| Abnormality of the peripheral nervous system 0.2614398348021995 0.4100402702930136 0.6817764069784866 1.0 0.9338471921244296 103 P42892,P41440,P39210,Q99720,P04062,Q9UBB4,Q10713,O60313,Q9NR77,O15269,P21964,Q15067,P07602,O43681,Q9NQZ5,Q8TB36,Q9NZJ7,Q8N2K0 18 |
| Overriding aorta 0.4005649763714922 0.4097306135808923 0.682003570452901 1.0 0.9338471921244296 9 Q9NX14,P53701,Q9Y4P3 3 |
| Abnormal metatarsal morphology 0.3288462042602205 0.4094595695158664 0.6822024314322848 1.0 0.9338471921244296 24 O43505,Q7RTS9,Q9UBM7,Q8WVQ1,Q15392,P08236,O95202,P16435,Q9H5K3 9 |
| Onion bulb formation 0.4001656310557175 0.4077209224108195 0.6834785751791261 1.0 0.934556499991273 9 Q8TB36,Q9NR77 2 |
| Abnormality of the autonomic nervous system 0.2872268183267608 0.4042956114507878 0.6859953522466258 1.0 0.9358798516704712 60 P42892,P41440,P04062,Q10713,P21964,Q15067,P07602,Q9NZJ7 8 |
| Facial hemangioma 0.4899922770746229 0.4042158877915981 0.6860539715286005 1.0 0.9358798516704712 5 P16435,Q10469 2 |
| Aplasia hypoplasia involving the skeletal musculature 0.3797352481365694 0.4041799366675337 0.686080406320627 1.0 0.9358798516704712 12 Q9Y487,Q9NR77,Q9H5K3 3 |
| Abnormal tongue physiology 0.3348867554146194 0.4026993360557033 0.6871694224173583 1.0 0.9368075850985824 20 Q9NWS8,Q16637,Q9BQT8,P10253,Q13510,O95831 6 |
| Abnormality of the fetal cardiovascular system 0.5861736450740302 0.400478740180015 0.6888039391259897 1.0 0.9373625331378926 3 P16435 1 |
| Aplasia hypoplasia of the hallux 0.3311390590338955 0.3976710694456944 0.6908726656265067 1.0 0.9381083553998164 22 O95202,Q5H8A4,Q9UHX1,Q7LGA3 4 |
| Abnormality of the fontanelles or cranial sutures 0.2616486922801628 0.3948936698584449 0.6929213618613823 1.0 0.9391571127638252 102 O75431,Q08J23,Q9Y487,P61978,O15228,Q14696,P40855,O75844,P29084,P56589,P17302,Q9UM00,P20674,O75718,O75845,P51798,Q8NCH0,Q9BT22,Q6NUK1,Q32P28,O75381,P51812,P21964,Q9NX62,Q8NC56,P16435 26 |
| Multicystic kidney dysplasia 0.3322000391834273 0.3933394307434357 0.6940687988453327 1.0 0.9391571127638252 21 P40855,O75381,Q9UBM7,Q10713,O60566,P56589,Q96J42 7 |
| B lymphocytopenia 0.4027011557620894 0.3926377481659636 0.6945870550622428 1.0 0.9391571127638252 8 Q13432 1 |
| Dermal translucency 0.3970913288429151 0.3923063624976148 0.6948318630903496 1.0 0.9391571127638252 9 O75844 1 |
| Hypoplasia of the brainstem 0.3161903867860277 0.3863433416787654 0.6992424054749509 1.0 0.9417891018395164 28 O43505,Q9Y320,Q10713,Q9H5K3 4 |
| Abnormal urinary color 0.4849492788214928 0.3852221630871192 0.7000728242831498 1.0 0.9417891018395164 5 P23786 1 |
| Open mouth 0.3127818210881306 0.382543602624068 0.7020581934361794 1.0 0.942799133154916 29 P04062,Q10713,Q86XL3,Q10469 4 |
| Glomerular deposits 0.5331664580725788 0.3816016390696064 0.702756868276948 1.0 0.9434608761924924 2 P57740 1 |
| Infantile onset 0.2547568444133569 0.3809775942239007 0.7032198742623847 1.0 0.9435295648229128 185 Q96CU9,Q9H3H5,O75431,Q93063,O95298,Q15904,O43292,Q9BRT2,O15020,Q9Y6M9,Q15067,O75648,Q9H9P8,Q9BUF5,P55795,Q8WVX9,P40939,Q13546,Q96AA3,Q9NPL8,Q5XKP0,P39210,Q12756,P55263,Q9NR77,Q9P0J0,P49366,Q6ZXV5,Q8TB36,Q9Y276,Q70HW3,Q96DP5,P20674,Q9Y4W6,Q9H5K3,Q9NSD9,P28288,Q9Y375,P49748,Q9Y6B6,Q92643,P23786,Q9NZJ7,Q2TAA5,O95831,Q9NVI7,Q5JPH6,Q10713,O75306,O95169,P07602,Q9Y320,Q96S52,Q5JRA6,Q53H12,P51970,O75746,P54098 58 |
| Tubulointerstitial nephritis 0.4834175529712468 0.3795018435385112 0.7043152355450937 1.0 0.944446125041738 5 P23786 1 |
| Impaired distal tactile sensation 0.5031007710393579 0.3776085316133841 0.7057214258570363 1.0 0.9452252479616896 4 P39210 1 |
| Metaphyseal striations 0.4826810773247404 0.3767596864296421 0.7063522023026751 1.0 0.9457936268120566 5 Q9UG56 1 |
| Abnormal cd4 cd8 ratio 0.4556532193864623 0.3749314120706767 0.7077114768523065 1.0 0.9466613141445018 6 Q13432 1 |
| Abnormal rectum morphology 0.3118789448201747 0.3748814709854391 0.7077486198491365 1.0 0.9466613141445018 29 P21912,P51812,P53701,Q8TAA9,Q9NX14 5 |
| Premature skin wrinkling 0.3320264736757392 0.3746300091505426 0.7079356517024351 1.0 0.9466613141445018 19 Q9Y487,O75844 2 |
| Myelomeningocele 0.5019817622302496 0.3737317161394192 0.7086039263696868 1.0 0.9466613141445018 4 O75845 1 |
| Heterotropia 0.2836379652197772 0.3733367359483852 0.7088978383533175 1.0 0.9466613141445018 52 Q9H3H5,P04062,P29084,Q9UHX1,O75340,Q9NVI7,P40939 7 |
| Joint swelling 0.3980688903360546 0.370353032097301 0.7111194645541581 1.0 0.9473371528899756 8 P14174,Q13510 2 |
| Impairment in personality functioning 0.2577681966888858 0.3694893250770294 0.711763028501091 1.0 0.9475009287019172 210 Q96CU9,Q9BUK6,Q7KZN9,Q8TAA9,O75648,Q96N66,P03886,Q7LGA3,P50897,O75503,Q13144,P00403,P12235,Q9P0J0,P36551,Q9Y276,Q9UM00,P17900,Q9NZ01,Q9Y4W6,Q8N0X7,Q9UBB4,P03915,O43681,Q9NZJ7,O15460,Q15165,P16615,Q6DKK2,O96008,P21912,P04062,P51812,O75306,P21964,P07602,P51530,P35637,Q9Y4P3,Q92804,Q9NWW5 41 |
| Delayed closure of the anterior fontanelle 0.3733336370140723 0.3687271186325087 0.7123311331428983 1.0 0.9479817752136974 12 P40855,O75381,Q9Y487 3 |
| Abnormal urine carboxylic acid level 0.3191564754123176 0.3679898056975428 0.7128808355523062 1.0 0.948291691410094 26 Q5XKP0,Q96JX3,Q53H12,O96000,Q9BUB7,Q3ZCQ8,Q9H6K4,Q9NVI7 8 |
| Tricuspid valve prolapse 0.575659871416901 0.3674708463413783 0.7132678342816177 1.0 0.948291691410094 3 P53701 1 |
| Distal muscle weakness 0.2832065738297998 0.3673045630590557 0.7133918507836303 1.0 0.948291691410094 67 Q9H3H5,Q9Y5L0,Q99720,Q96RL7,P07196,P40939,P41440,P39210,Q9NR77,O15269,O75340,Q8TB36,P36551,P22626,Q9Y4W6,Q9BQT8,P18887,O95831,P00846,Q96BR5,P35637,P54098 22 |
| Delayed puberty 0.2833196822657456 0.3646390281361775 0.7153808775806316 1.0 0.9490084484871032 54 Q15800,P04062,O75844,Q14108,Q9NVI7 5 |
| Broad hallux phalanx 0.527847309136408 0.3639824734185755 0.7158710972070832 1.0 0.9493838979458336 2 P49711 1 |
| Emotional lability 0.2834489975159522 0.3611663115796321 0.7179751243031673 1.0 0.9510731481807208 57 Q96CU9,O00483,Q8N0X7,Q7KZN9,O75306,P49770,Q9P0J0,O43681,P07602,P35637,Q9Y276,Q9NZJ7,O00170,Q96DP5,Q92804,Q15165,P54098,Q13144 18 |
| Aortic regurgitation 0.3182504399457209 0.3607864879151117 0.7182590645353137 1.0 0.9511742871967652 26 Q96PU5,O75844,Q9UHX1 3 |
| Abnormal aldolase level 0.4977091104549047 0.3590447982439401 0.719561576420739 1.0 0.9526238495116516 4 Q9H5K3 1 |
| Poor motor coordination 0.3785010306471156 0.3575414591551136 0.7206864945686156 1.0 0.9534540195886524 11 Q10713 1 |
| Constipation 0.2663642939464535 0.3571258090959531 0.7209976238993996 1.0 0.9534540195886524 95 P42892,Q8N0X7,P21912,P04062,Q8NCH0,P00403,P37268,Q13423,P21964,P03915,P12235,P03886,P16435,Q7LGA3 14 |
| Hypoplasia of the frontal lobes 0.3952344733963908 0.3568376334111179 0.721213361095159 1.0 0.9534540195886524 8 Q86XL3 1 |
| Calvarial hyperostosis 0.4772777182634174 0.3568086932113835 0.7212350278464128 1.0 0.9534540195886524 5 Q15043 1 |
| Aplasia hypoplasia of the scapulae 0.4959951734761164 0.3532057379720412 0.7239342064925625 1.0 0.9534540195886524 4 Q7RTS9 1 |
| Sloping forehead 0.284990337527821 0.3528577006071994 0.724195123607545 1.0 0.9535035257859374 44 Q9H936,P52732,Q9NXE4,O75845,Q08J23,Q86XL3,Q9HC21,P23786,Q96J42 9 |
| Lambdoidal craniosynostosis 0.5708105542098465 0.3526004626844911 0.7243879906723807 1.0 0.9535035257859374 3 P16435 1 |
| Abnormal blood sodium concentration 0.3830525706271206 0.3504378825134534 0.72601010046761 1.0 0.9542450640516836 10 Q13423,Q9BV10 2 |
| Fragile nails 0.3771127060436327 0.3502390414400348 0.7261593091690266 1.0 0.9542450640516836 11 Q9Y487,P29084 2 |
| Delayed fine motor development 0.393562706826587 0.3489106485367802 0.7271563906012211 1.0 0.9546817773475468 8 P16435 1 |
| Abnormal hair laboratory examination 0.3934449707726448 0.3483536514754763 0.7275746059180657 1.0 0.9546817773475468 8 Q9Y276,P18074,P29084 3 |
| Hypoplasia of the iris 0.4489406630579554 0.3482144855898352 0.7276791098183388 1.0 0.9546817773475468 6 O95202,Q7LGA3 2 |
| Abnormal serum iron concentration 0.4748952378281603 0.3481077972109166 0.7277592287995973 1.0 0.9546817773475468 5 Q658P3 1 |
| Esophageal varix 0.4940145942903677 0.3464964371714471 0.728969661306337 1.0 0.955144120133153 4 P04062 1 |
| Tibial bowing 0.493837593365244 0.3458988489752311 0.7294187337018045 1.0 0.9554593018358114 4 Q7RTS9 1 |
| Enlarged posterior fossa 0.2807697918257031 0.341087647639716 0.7330376000079402 1.0 0.9585554461291044 52 Q9NPL8,Q9H490,Q9UBM7,O95298,Q9Y487,P15291,Q10713,P23786,Q96J42,Q9H5K3 10 |
| Urinary retention 0.4468887925189462 0.3401444752622917 0.7337477299900712 1.0 0.9592102992338106 6 Q8TAA9,Q93063 2 |
| Congenital nystagmus 0.3275235082148562 0.3383773176602757 0.7350788649551041 1.0 0.960024758554324 18 P00846,Q7LGA3 2 |
| Abnormality of toe 0.2509711760158016 0.3364866700503097 0.7365039019308721 1.0 0.9606083103625268 176 P49902,O75431,Q99720,Q9BV10,O95202,O75648,Q14739,Q5H8A4,Q7LGA3,P39210,Q96A33,O75844,Q9NR77,Q8TB36,Q9UM00,Q7Z4L5,Q8N0X7,O75845,P13073,Q9UHX1,Q96PU5,P23786,P37268,Q9UBM7,P04062,P51812,Q10713,P21964,Q9NX62,Q9Y4P3,Q13510,Q96J42 32 |
| Ankyloblepharon 0.4704942794863145 0.332195190249481 0.7397418753700074 1.0 0.9626518809842016 5 O75569 1 |
| Abnormal odontoid tissue morphology 0.2819221104405702 0.3311641312654301 0.7405205120950855 1.0 0.9626963213365296 45 Q9UBM7,P53701,P29084,P21964,P17302,P51648,Q9Y4P3,Q5JRA6,Q9NX14 9 |
| Hypoplastic aortic arch 0.4893196774131841 0.3307589835819094 0.7408265449656488 1.0 0.9626963213365296 4 Q9UHX1 1 |
| Esodeviation 0.2877067260188748 0.3293605713827506 0.7418831661931486 1.0 0.9630016443319978 37 Q9NVI7,O75340,P04062,Q9UHX1 4 |
| Abnormality of the scrotum 0.2795419862648398 0.3292646183904737 0.7419556848353195 1.0 0.9630016443319978 47 P46977,Q9BV10,Q6NUK1,Q9UM00,O75648,Q8TCJ2,P16435,Q7LGA3 8 |
| Cyanosis 0.3260568795483491 0.3284429858487391 0.7425767459412107 1.0 0.963175794912976 18 Q00325,P51812,Q969Y2,O75844,P53007,P17302 6 |
| Heparan sulfate excretion in urine 0.4878444350316978 0.3258633270583009 0.7445277632713281 1.0 0.9642643030897834 4 P08236 1 |
| Enamel hypoplasia 0.3502512005043837 0.3258226874364818 0.7445585125123644 1.0 0.9642643030897834 14 P51648,P29084 2 |
| Abnormal insulin level 0.3177339637526225 0.3243964106589707 0.7456379368290316 1.0 0.9649520385867392 24 P31751,O75431,O75844,P00367,Q96HR9,P40939,Q16836 7 |
| Gray matter heterotopia 0.3133532668761848 0.3221035827557974 0.7473742241655037 1.0 0.9649520385867392 26 O43505,Q9UBM7,Q86XL3,Q96PU5,Q2TAA5,P61978,Q6NUK1,Q9H5K3 8 |
| Conspicuously happy disposition 0.5147058823529281 0.3220190055108294 0.7474382964676616 1.0 0.9649520385867392 2 P55795 1 |
| Abnormal clavicle morphology 0.3250504033554599 0.3216464318921105 0.7477205639513791 1.0 0.9649520385867392 18 Q14739,O75844 2 |
| Abnormal circulating sulfur amino acid concentration 0.3826234177223928 0.3212309777063584 0.7480353583005106 1.0 0.9649520385867392 9 P41440,O14678,P55263 3 |
| Left ventricular noncompaction cardiomyopathy 0.514392991239037 0.3210480130455228 0.7481740060280977 1.0 0.9649520385867392 2 Q15233 1 |
| Abnormal umbilicus morphology 0.2801595635492247 0.3209497222514121 0.748248492601197 1.0 0.9649520385867392 61 Q8NBU5,Q9NWM8,Q9Y487,Q8NCH0,O75844,P29084,Q6NUK1,Q9BUB7,P21964,P08236,P17302,Q9Y4P3,Q14739 13 |
| Abnormal circulating porphyrin concentration 0.48586285848477 0.319325251937793 0.7494798859659988 1.0 0.9655251025584796 4 P22830 1 |
| Irritability 0.274822583267597 0.3189295933922785 0.749779902943895 1.0 0.9655251025584796 78 P50897,P00846,P21912,Q8NBM4,P07602,Q9HC21,Q9NZJ7,Q13510,P37268 9 |
| Abnormality of blood circulation 0.2790367344333591 0.3188653713203513 0.7498286043448235 1.0 0.9655251025584796 68 Q9H3H5,P38435,Q8NBM4,P21912,Q9Y487,P04062,O75844,Q9UHX1,P21964,P23786,Q14739 11 |
| Craniosynostosis 0.2855254088365219 0.3183239674253625 0.7502392057497205 1.0 0.9655251025584796 39 Q8NCH0,P29084,P21964,Q9NX62,Q9UM00,Q6NUK1,P16435 7 |
| Hemivertebrae 0.3762494748409167 0.3162395356065378 0.7518207012820122 1.0 0.9664154853205424 10 P16435,Q9UHX1 2 |
| Abnormal proportion of cd4 positive t cells 0.3865707082412235 0.3161325367461234 0.7519019114147067 1.0 0.9664154853205424 8 Q13432 1 |
| Motor polyneuropathy 0.3563303670636771 0.3161162481820531 0.7519142743709588 1.0 0.9664154853205424 13 Q92734,P54886,P07196,O43819,P53007,P36551,Q15041 7 |
| Septo optic dysplasia 0.5125156445556864 0.3152502868084593 0.752571627236827 1.0 0.966989118339636 2 Q8WWQ0 1 |
| Myositis 0.3756611511426196 0.3133111359235612 0.7540442905106477 1.0 0.9683382676905234 10 Q9NZ08,Q8NBM4 2 |
| Abnormal upper motor neuron morphology 0.3699522046546417 0.3129777252721186 0.754297585264025 1.0 0.968392136643251 11 Q99720 1 |
| Developmental cataract 0.2792004103869474 0.3109536129011601 0.7558358861292698 1.0 0.9700952465670348 58 Q9H3H5,Q15800,P21912,P00403,P03886 5 |
| Extra axial cerebrospinal fluid accumulation 0.5109511889862197 0.3104560470765422 0.7562141786463215 1.0 0.9702822996781076 2 Q03252 1 |
| Scapular winging 0.3175374215876801 0.3102048993849244 0.7564051450131384 1.0 0.9702822996781076 23 Q9H3H5,P50402,Q9BTV4,Q9Y487,P07196,O60313,O75340,P54098 8 |
| Chronic diarrhea 0.3214111544076319 0.3064509594318488 0.7592613134023987 1.0 0.9715188892695062 17 Q96A33,Q13510 2 |
| Abnormality of the pubic bone 0.3793005278827841 0.305281521385341 0.7601517484203031 1.0 0.9719669316597686 9 Q7RTS9,Q5H8A4 2 |
| Hypercholesterolemia 0.353411323841585 0.2998676771074273 0.7642780903030497 1.0 0.9755586056754706 13 Q8N511,O75431 2 |
| Reduced factor xi activity 0.5529095467061191 0.2997723514979606 0.7643508062799955 1.0 0.9755586056754706 3 Q9BV10 1 |
| Increased circulating antibody level 0.3456692059070503 0.2991827594138138 0.7648006031793173 1.0 0.9758608643184716 14 P04062 1 |
| Aganglionic megacolon 0.3207912173629834 0.2971276264333106 0.7663690734336193 1.0 0.97677415701609 19 Q10713,P21964 2 |
| Abnormality of the upper arm 0.3186413666730077 0.2960149355157786 0.767218675386045 1.0 0.977313308484531 21 Q7RTS9,P50402,Q9BV10,O15228,P16435 5 |
| Ovarian cyst 0.3286127853083771 0.2956103097502368 0.7675276993080828 1.0 0.9774352190743846 16 P31751,P16435,P21912 3 |
| Sensory axonal neuropathy 0.3196476985382729 0.2948049982286606 0.7681428480092438 1.0 0.9777500011649468 17 Q15067,Q9H0B6 2 |
| Patellar dislocation 0.3195787586594526 0.2947280160760774 0.7682016595796177 1.0 0.9777500011649468 20 Q8WVQ1,P21964,Q6ZXV5,Q9NX62,Q96PU5,Q9Y4P3 6 |
| Decreased corneal reflex 0.5496195966366222 0.2904338697806422 0.771484335467699 1.0 0.9799844561396112 3 Q2TAA5 1 |
| Vascular neoplasm 0.2826412648190102 0.2900007673559879 0.7718156505526181 1.0 0.9799844561396112 39 P21912,P10619,Q10469,Q9UHX1,O95202,P16435,Q5H8A4,Q7LGA3 8 |
| Dystonia 0.2486107098770696 0.2878488763499277 0.7734624220245896 1.0 0.9811751987033968 176 Q96CU9,Q99720,Q7KZN9,Q15067,O14949,Q96N66,P03886,P39210,P51572,Q9P0J0,O15118,Q86VD7,P17900,Q9NZ01,Q96JX3,P03915,O43681,Q15043,Q9NZJ7,P00846,Q6DKK2,P04062,Q9NQZ5,P07602,Q01105 25 |
| Poor wound healing 0.4330053285119877 0.2868175571268959 0.7742520188587871 1.0 0.9816333011651804 6 P04062 1 |
| Aplasia hypoplasia affecting bones of the axial skeleton 0.2566372024254912 0.2848303320620303 0.7757741327071179 1.0 0.9827473254254948 247 Q9H3H5,O75431,Q15392,Q9BV10,Q9BUB7,Q8TAA9,O95202,Q9HC21,O15228,O75648,P51571,Q14739,Q5H8A4,Q7LGA3,Q96AA3,P40855,Q7RTS9,O75844,P29084,Q9UM00,O14678,Q7Z4L5,O75845,Q8NCH0,Q9BT22,Q86XL3,Q9UHX1,Q96PU5,Q9NVI7,P37268,Q6NUK1,O75381,Q9UBM7,P04062,P53701,P21964,Q969X5,P51530,P08236,Q9NX62,Q9Y4P3,Q9NX14,Q96J42,P16435 44 |
| Gingival overgrowth 0.3010599482952927 0.284266948276254 0.7762058132137633 1.0 0.9830223980501556 29 Q15056,Q9Y5U9,Q9UBM7,O75845,Q10469,Q96S52,P08236,Q9UM00,Q9Y4P3,Q14739 10 |
| Aplasia hypoplasia involving bones of the feet 0.2755061642216124 0.2819011657397256 0.7780192956426635 1.0 0.9847746996228408 70 Q7RTS9,Q96A33,P13073,Q9UHX1,Q9NX62,Q13510,Q5H8A4,Q7LGA3 8 |
| Cranial asymmetry 0.4314589453997087 0.2810228544619131 0.7786928705748417 1.0 0.9852833195252882 6 P40855 1 |
| Microvesicular hepatic steatosis 0.3635377266072535 0.2802118182232549 0.7793150001022082 1.0 0.985325974191037 11 Q96DA6,P39210,Q9Y276,O75648 4 |
| Hypomimic face 0.3560784519996623 0.2758697703265209 0.7826480930408306 1.0 0.988721687982654 12 P04062,P12235 2 |
| Abnormality iris morphology 0.2687371239135829 0.2754215634201774 0.7829923792597269 1.0 0.9888839806416948 84 O43505,Q7LGA3,P40855,O75381,Q9UBM7,P21912,P53701,Q10713,Q9NR77,Q9UHX1,O75340,P56589,O95202,Q9Y4P3,Q9NX14,Q96J42,Q5H8A4,Q9H5K3 18 |
| Exodeviation 0.3109598158686762 0.2736284624633034 0.7843701586026648 1.0 0.9900237886219074 24 Q9H3H5,Q9UHX1 2 |
| Death in childhood 0.3123792095715128 0.2723718841054323 0.7853360889778278 1.0 0.9903967894605014 23 Q9NPL8,O75431,Q8TCJ2,P20674,Q96IX5 5 |
| Diffuse cerebellar atrophy 0.4028810196680956 0.2719518273566594 0.7856590599407043 1.0 0.9903967894605014 7 P18074,P29084,Q12756 3 |
| Irregular hyperpigmentation 0.2753220929074327 0.2705568810556499 0.7867318631350269 1.0 0.9909184198123044 67 P21912,O75844,Q14739,Q06136,P16615 5 |
| Short long bone 0.2850698652282318 0.2687199397187787 0.7881452063217966 1.0 0.9915654407925514 34 Q7Z4L5,Q7RTS9,Q9BV10,Q9UHX1 4 |
| Uncombable hair 0.4965581977471728 0.2679812883511953 0.7887137218615421 1.0 0.9920083100657662 2 Q6PGP7 1 |
| Progressive inability to walk 0.3164099081586703 0.2675152677213254 0.789072460455245 1.0 0.9921309173125552 19 P00846,P21912 2 |
| Abnormal cranial nerve morphology 0.2743328146579247 0.2672921131179144 0.7892442587525674 1.0 0.9921309173125552 70 P40855,Q9H3H5,O75381,P51798,P21912,P51812,P07196,P12235,Q9UHX1,O75340,P56589,O43819,Q15043,P51530,Q13510 15 |
| Abnormality of the ribs 0.2749486750699325 0.2660107885309375 0.7902309002422552 1.0 0.992191987965436 67 Q7Z4L5,Q7RTS9,O75431,P51798,Q9UBM7,O75844,Q9BV10,Q9UHX1,Q8TAA9,O95202,Q9UM00,Q32P28,Q14739,P16435,Q5H8A4,O75718 16 |
| Aspiration pneumonia 0.311478673664406 0.26582297653475 0.7903755469388567 1.0 0.992191987965436 23 P04062,Q13510 2 |
| Metaphyseal widening 0.3158286204207491 0.263614974744884 0.7920766184096601 1.0 0.9925847964151042 19 Q7Z2Z2,Q7RTS9,Q93063,Q8WVQ1,P17302,Q14739 6 |
| Deviation of the 2nd finger 0.4683266129337708 0.2634485878146562 0.7922048451527797 1.0 0.9925847964151042 4 Q9H6K4 1 |
| Right ventricular hypertrophy 0.5395931142410043 0.2627213017731077 0.7927653969426065 1.0 0.9927442057368197 3 Q969Y2,Q15233 2 |
| Impaired glucose tolerance 0.5392497693746832 0.2617926737756911 0.7934812876237558 1.0 0.9928424555814956 3 O00170 1 |
| Decreased fertility in females 0.4249539233327949 0.2569854298622692 0.7971900207320723 1.0 0.9947284673278456 6 Q96RD7 1 |
| Abnormality of refraction 0.2548433187292704 0.2564140839943445 0.7976311138484853 1.0 0.9947593259808816 150 P49902,Q9H3H5,Q9Y487,Q15904,O43292,Q15067,O75648,P40939,Q5H8A4,Q7LGA3,Q7Z2Z2,Q96A33,P29084,P12235,P51648,Q9H5K3,Q9H490,Q9NWM8,Q8NCH0,Q9UHX1,Q9NVI7,Q6NUK1,O15460,P21912,Q53H12,O43819,Q9Y4P3,Q9NX14 28 |
| Reduced antithrombin iii activity 0.4245545710455258 0.2555279772120213 0.798315337949949 1.0 0.9948799742055892 6 Q9H3H5 1 |
| Diminished movement 0.3081059955024889 0.2525272673678493 0.8006335405761829 1.0 0.9948799742055892 24 P04062,Q9H3H5,Q2TAA5,P12235 4 |
| Abnormal sternum morphology 0.2535085031114725 0.2516331737796187 0.8013246145365645 1.0 0.9948799742055892 110 O75431,P50402,Q9Y487,Q10469,O95202,Q14739,Q7LGA3,Q7RTS9,Q96A33,Q7Z4L5,Q9H490,Q8NCH0,Q9UHX1,Q9NVI7,P21912,P04062,P51812,P08236,Q9Y4P3,Q13510 20 |
| Abnormality of the calf 0.2740365418732335 0.2496025112106363 0.8028947563829636 1.0 0.9963226515064276 60 Q7Z2Z2,Q7RTS9,Q8N0X7,O75431,Q13126,P51798,Q9BV10,Q9NR77,P08236,Q9NX62,Q9Y4P3,Q32P28,P16435,O75718,Q7LGA3 15 |
| Cardiac diverticulum 0.4630557294928048 0.2473871627090636 0.8046086081652111 1.0 0.9977582253350464 4 P60866,Q16658,P43246 3 |
| Aplasia cutis congenita of scalp 0.3956467912349619 0.2427459228234609 0.8082022299433089 1.0 1.0 7 Q5H8A4 1 |
| Patchy palmoplantar hyperkeratosis 0.5311736561505631 0.2403488702754787 0.8100598121014606 1.0 1.0 3 Q06136 1 |
| Neonatal hypoglycemia 0.3554632247520378 0.2398734712545442 0.8104283473815546 1.0 1.0 11 P31751,Q96DA6,P40939,Q16836 4 |
| Accessory spleen 0.3691967682441069 0.2375991041389324 0.8121920454136957 1.0 1.0 8 Q96J42,O95202 2 |
| Biparietal narrowing 0.3480540702997801 0.2342535203278899 0.814788167445434 1.0 1.0 12 Q10713,O75845 2 |
| Aphthous ulcer 0.3682360080864252 0.2333895739178278 0.8154589084656203 1.0 1.0 8 Q8NBM4 1 |
| Abnormal b cell morphology 0.3535006376302358 0.2302325360368027 0.8179110807547518 1.0 1.0 11 Q13432 1 |
| Weight loss 0.2698359952961652 0.2281583084641783 0.8195231716625926 1.0 1.0 74 P42892,Q8NBM4,Q99720,P21912,P04062,O75844,P07602,Q9NZJ7,Q06136 9 |
| Abnormality of bladder morphology 0.3580696457663105 0.2281269000651148 0.8195475881707319 1.0 1.0 10 Q9NWM8,P16435,Q9Y4P3 3 |
| Abnormality of abdominal situs 0.4394226510617572 0.2263635316823618 0.8209186893044094 1.0 1.0 5 Q5H8A4 1 |
| Rib segmentation abnormalities 0.4394226510617572 0.2263635316823618 0.8209186893044094 1.0 1.0 5 Q5H8A4 1 |
| Hypoplastic pubic rami 0.4394226510617572 0.2263635316823618 0.8209186893044094 1.0 1.0 5 Q5H8A4 1 |
| Fatigable weakness of bulbar muscles 0.3173145589038413 0.2257111451584508 0.8214260891818927 1.0 1.0 16 Q15165,Q92804 2 |
| Hypoplasia of the odontoid process 0.4159033684722909 0.2244944691680935 0.8223725700650972 1.0 1.0 6 Q7RTS9,P08236 2 |
| Elevated tissue non specific alkaline phosphatase 0.4806007509386589 0.2244897979714305 0.8223762043979941 1.0 1.0 2 P55072 1 |
| Proptosis 0.2709610251017809 0.2229365557456464 0.8235848848922114 1.0 1.0 55 O75431,Q9UBM7,Q8WVQ1,O75844,O95202,Q15043,Q9NX62,Q8NC56,Q32P28,Q6NUK1,P16435,Q5H8A4,O75718 13 |
| Dermatological manifestations of systemic disorders 0.2686233551598314 0.2179847066261176 0.8274410272581223 1.0 1.0 75 Q9H3H5,Q00325,Q9Y5L0,Q15904,P53007,O75648,Q14739,P40855,Q8WWI5,P39210,Q16134,Q969Y2,O75844,O15118,P56589,P17302,P36551,P50542,P28288,Q9Y5U9,P00374,P49748,O96011,O75381,Q9UJS0,P51812 26 |
| Upper limb muscle weakness 0.2997733886519872 0.2174217112628435 0.8278797127265869 1.0 1.0 26 Q8N0X7,P00846,P50402,P07196,Q969X5,P36551 6 |
| Wide nasal ridge 0.4517796992621242 0.2142417006035884 0.8303585785634848 1.0 1.0 4 P61978 1 |
| Thoracolumbar kyphosis 0.3883869469904872 0.2142161536331563 0.8303784996813091 1.0 1.0 7 P04062,Q10469 2 |
| Gastroparesis 0.3502075699775315 0.214207578727942 0.8303851862793103 1.0 1.0 11 Q10469,Q9BUB7,P12235,P61978,P54098 5 |
| Hyperglycemia 0.4126736510712342 0.2131814833788537 0.831185410435322 1.0 1.0 6 O75844 1 |
| Abnormality of cranial sutures 0.2651813481361412 0.2131012047142639 0.831248025000412 1.0 1.0 82 O75431,Q08J23,Q9Y487,P61978,P40855,O75844,P29084,Q9UM00,O75718,O75845,P51798,Q8NCH0,Q6NUK1,Q32P28,O75381,P51812,P21964,Q9NX62,Q8NC56,P16435 20 |
| Abnormal venous morphology 0.2990628144617144 0.2120643686139176 0.8320568172038489 1.0 1.0 26 P04062,Q9Y487,P21964 3 |
| Pelvic kidney 0.3629789725963154 0.2106246136058736 0.8331802042652492 1.0 1.0 8 Q9Y4P3,Q9UHX1 2 |
| Absent toe 0.3006171024958986 0.2098396664970925 0.8337928128357222 1.0 1.0 25 O95202,Q5H8A4,Q9UHX1,Q7LGA3 4 |
| Steppage gait 0.3034640076311692 0.2083457127302589 0.8349590410843808 1.0 1.0 23 P07196,P05023,Q9NR77,O15269,O43819,Q8TB36 6 |
| Anal atresia 0.2984280049492406 0.2072894307102943 0.8357838279632244 1.0 1.0 26 Q9NX14,P53701,P21964 3 |
| Ptosis 0.2520704197931369 0.2049524956949907 0.837609240030831 1.0 1.0 230 Q96CU9,Q9H3H5,P50402,Q7KZN9,O96000,Q9BPX6,Q9Y6M9,O95202,O43676,O75648,P03886,Q86Y39,Q5H8A4,O95470,Q7LGA3,P40855,Q9NPL8,Q96A33,O60313,P12235,Q9P0J0,O75340,Q5T8D3,Q9UM00,Q9Y375,O75845,Q86XL3,Q9UHX1,Q9NZJ7,O15460,O75381,Q9UBM7,P04062,Q10713,O75306,P21964,O43819,P07602,P51530,Q9NX14 40 |
| Decreased circulating iga level 0.3857677790557541 0.2041248033393022 0.8382559721184373 1.0 1.0 7 P42345,Q15904,P00813,Q969N2 4 |
| Vertebral clefting 0.3613262701656564 0.2035640925932105 0.8386941555094793 1.0 1.0 8 O75845 1 |
| Axonal degeneration regeneration 0.4315690573128893 0.201613264168239 0.8402190748613863 1.0 1.0 5 O60333,Q8TB36,P51149,O95140 4 |
| Dysphagia 0.2532545507505202 0.2011218326573045 0.8406033107955393 1.0 1.0 136 P00846,P21912,P04062,Q99720,Q14739,Q9NR77,Q9UHX1,P03915,P07602,Q15067,P12235,Q14108,O15118,Q9NZJ7,Q13510,P03886,Q01105 17 |
| Abnormal fallopian tube morphology 0.3565014224502274 0.2003065069859154 0.8412408738378288 1.0 1.0 9 P53701 1 |
| Increased mean corpuscular hemoglobin concentration 0.4467190872672095 0.1999248698100744 0.8415393397869273 1.0 1.0 4 P29084 1 |
| Abnormal mean corpuscular hemoglobin concentration 0.4467190872672095 0.1999248698100744 0.8415393397869273 1.0 1.0 4 P29084 1 |
| Numerous pigmented freckles 0.4467190872672095 0.1999248698100744 0.8415393397869273 1.0 1.0 4 P29084 1 |
| Defective dna repair after ultraviolet radiation damage 0.4467190872672095 0.1999248698100744 0.8415393397869273 1.0 1.0 4 P29084 1 |
| Low set nipples 0.4467190872672095 0.1999248698100744 0.8415393397869273 1.0 1.0 4 P29084 1 |
| Abnormality of dna repair 0.4467190872672095 0.1999248698100744 0.8415393397869273 1.0 1.0 4 P29084 1 |
| Tiger tail banding 0.4467190872672095 0.1999248698100744 0.8415393397869273 1.0 1.0 4 P29084 1 |
| Concave nail 0.4467190872672095 0.1999248698100744 0.8415393397869273 1.0 1.0 4 P29084 1 |
| Duplication of hand bones 0.2690729874962454 0.1994028534482571 0.8419476285756438 1.0 1.0 56 Q7Z4L5,O75845,Q10713,Q9UHX1,P21964,Q96J42,Q14739,Q5H8A4 8 |
| Hypoplastic labia minora 0.5142410015649541 0.1979588392232054 0.8430772679184457 1.0 1.0 3 Q9NP72,Q15042 2 |
| Clitoral hypoplasia 0.5142410015649541 0.1979588392232054 0.8430772679184457 1.0 1.0 3 Q9NP72,Q15042 2 |
| Abnormal circulating albumin concentration 0.2824773716503628 0.1979127302513605 0.8431133438853864 1.0 1.0 32 Q9BT22,Q5XKP0,O95470 3 |
| Abnormal cardiac test 0.305955145425443 0.1964001614023698 0.8442969699390814 1.0 1.0 18 Q9H3H5,Q9BTV4,P49748,P12235,Q96DA6,P10253,P40939,Q16836,P54098 9 |
| Tinnitus 0.3042953445132 0.1960859184664587 0.8445429177459092 1.0 1.0 17 P21912,Q02978,Q9NR77,Q15043,Q9H1P3,Q9NR28 6 |
| Abnormal aortic valve physiology 0.2718542091934907 0.196040033896507 0.8445788313869238 1.0 1.0 41 P04062,Q96PU5,O75844,Q9UHX1 4 |
| Abnormal muscle fiber type distribution 0.3454280832949345 0.1913011995397753 0.8482896213501081 1.0 1.0 11 Q9H3H5 1 |
| Muscular dystrophy 0.3009811380302942 0.1908565744621032 0.8486379632518917 1.0 1.0 23 O43505,O14979,P50402,Q9BTV4,O60566,P22626,Q9H5K3 7 |
| Hereditary nonpolyposis colorectal carcinoma 0.3576802507837131 0.1881565126013326 0.8507539614736652 1.0 1.0 8 P04637,P35222,P63167,O60566,O14965,Q8NFG4,P52701 7 |
| Rib fusion 0.3491673319551662 0.1869737386005676 0.8516812233826183 1.0 1.0 10 O95202,Q5H8A4 2 |
| Agammaglobulinemia 0.4652690863579378 0.1864602608360186 0.8520838395800379 1.0 1.0 2 Q8IWT6 1 |
| Sparse lateral eyebrow 0.3810583385750226 0.1862596791098328 0.8522411255167981 1.0 1.0 7 Q08J23,Q92643,P61978 3 |
| Arrhinencephaly 0.3442942927069191 0.1859306654326058 0.8524991339467061 1.0 1.0 11 P21964 1 |
| Generalized hyperreflexia 0.4255855716997793 0.1833503809614396 0.8545231060553089 1.0 1.0 5 P29084 1 |
| Nasogastric tube feeding 0.2997339326991804 0.1821321186957043 0.8554790431930441 1.0 1.0 23 Q9NZ01 1 |
| Abnormal z disc morphology 0.4621401752190164 0.179164927100584 0.8578082022034061 1.0 1.0 2 Q13501 1 |
| Abnormal sarcomere morphology 0.4621401752190164 0.179164927100584 0.8578082022034061 1.0 1.0 2 Q13501 1 |
| Abnormal rib cage morphology 0.2625698791108878 0.1780311692541783 0.8586984972192351 1.0 1.0 82 O75431,Q10469,Q9BV10,Q8TAA9,O95202,Q14739,Q5H8A4,Q7Z2Z2,Q7RTS9,O75844,Q9UM00,O75718,Q7Z4L5,P15586,P51798,Q9UHX1,Q32P28,Q9UBM7,P08236,P16435 20 |
| Increased total bilirubin 0.4386769087624039 0.1779126701496741 0.8587915602532166 1.0 1.0 4 P23786 1 |
| Tissue ischemia 0.3022385120195016 0.1778953295824931 0.858805178797456 1.0 1.0 20 O15460,O75844,Q9Y4P3,Q8NBM4 4 |
| Rhinitis 0.4016955319975096 0.1758974290861844 0.8603745251537065 1.0 1.0 6 Q9BV10 1 |
| Anorexia 0.2940757643183959 0.1748475714132381 0.8611994074708802 1.0 1.0 26 Q8NBM4,P04062,P35610,O15460,Q14108,Q13423 6 |
| Perseveration 0.3769488594536011 0.1709733367637886 0.8642447310509886 1.0 1.0 7 P35637,Q15233 2 |
| Dilation of virchow robin spaces 0.4583854818523036 0.1706218506830923 0.8645211155045323 1.0 1.0 2 P27635 1 |
| Abnormality of tibia morphology 0.307640332494489 0.1680221987495942 0.8665658152687328 1.0 1.0 16 Q32P28,Q7RTS9,Q9BV10 3 |
| Enlarged cisterna magna 0.3012075008810193 0.1679838558145755 0.8665959797895322 1.0 1.0 19 O95298,Q10713 2 |
| Type ii lissencephaly 0.5009773359899967 0.1672904984299859 0.8671414799443313 1.0 1.0 3 Q9H5K3 1 |
| Subsarcolemmal accumulations of abnormally shaped mitochondria 0.4344403189054604 0.1666909291044763 0.8676132432035077 1.0 1.0 4 P12235 1 |
| Hip contracture 0.3339871411654073 0.16415010186177 0.8696129811122901 1.0 1.0 12 Q7LGA3 1 |
| Abnormal sclera morphology 0.2833953312645186 0.1624903678160965 0.8709197128486987 1.0 1.0 30 Q9H3H5,Q8NCH0,Q8WVQ1,P40939,O75718 5 |
| Pedal edema 0.3513764349918672 0.1620850725628477 0.8712388611249087 1.0 1.0 8 P04062 1 |
| Abnormality of complement system 0.4314339386349401 0.1588874991773704 0.8737575097893695 1.0 1.0 4 Q05655,P51570,Q03252 3 |
| Squamous cell carcinoma of the skin 0.431433938634938 0.158887499177365 0.8737575097893737 1.0 1.0 4 P18074,Q9H4L7,P19447 3 |
| Trichorrhexis nodosa 0.4967136150234834 0.1579202516565828 0.8745196397901998 1.0 1.0 3 P18074,Q6PGP7 2 |
| Apneic episodes precipitated by illness fatigue stress 0.4511889862327768 0.1548959524309634 0.8769033446284504 1.0 1.0 2 P53007 1 |
| Abnormal cortical bone morphology 0.2991579158164698 0.1538037436739168 0.8777644819379888 1.0 1.0 18 P40855,Q86XL3,P51798,P17302 4 |
| Insulin resistance 0.3048345991082445 0.1517116426389642 0.879414373975127 1.0 1.0 16 Q9Y6M1,P31751,O75431,O75844 4 |
| Long toe 0.3412581313892165 0.1516612134455441 0.8794541504042173 1.0 1.0 10 Q9UHX1 1 |
| Focal motor status epilepticus 0.4493116395494227 0.150934271704286 0.8800275652597351 1.0 1.0 2 P54098 1 |
| Aplasia hypoplasia of the uterus 0.2966026447043798 0.1486908577597326 0.8817975754930514 1.0 1.0 17 Q9NX14,P53701 2 |
| Abnormal serum insulin like growth factor 1 level 0.4917928491916304 0.1474061532680597 0.8828114489732775 1.0 1.0 3 Q9BV10 1 |
| Neoplasm of the male external genitalia 0.3475856897087974 0.1467680933010196 0.8833150697667587 1.0 1.0 8 Q13423 1 |
| Inflammatory abnormality of the eye 0.2671338732513087 0.1458301897222741 0.8840554427134755 1.0 1.0 40 P14174,Q15800,Q8NBM4,P29084,P51648,Q9NZ08,Q14739 7 |
| Emg myopathic abnormalities 0.2761892207915426 0.1448383720926443 0.8848384851014854 1.0 1.0 32 Q13586,P50402,Q9BTV4,Q9Y5L0,Q9BUK6,P07196,P13473,P12235,Q8NCE2,Q9Y6B6,P54098,P22626 12 |
| Microdontia 0.2858297971449666 0.1434242765884203 0.8859551112298092 1.0 1.0 28 Q9Y487,Q96A33,Q9UM00,Q9Y4P3,Q6NUK1,Q7LGA3 6 |
| Jaundice 0.2642928266253715 0.1399464501643525 0.8887023004583534 1.0 1.0 59 Q9H3H5,Q9Y5L0,Q15904,O75648,Q14739,P40855,Q8WWI5,P39210,Q16134,O15118,P56589,P36551,P50542,P28288,Q9Y5U9,P49748,O96011,O75381,Q9UJS0 19 |
| Central hypoventilation 0.3455210310266377 0.1385436246729434 0.8898107945141223 1.0 1.0 8 O95169,O75306,O43819 3 |
| Aplasia hypoplasia involving the femoral head and neck 0.337886565095328 0.1369905718538482 0.891038247423205 1.0 1.0 10 O95831,Q8WVQ1,O75431,P50542 4 |
| Unsteady gait 0.2619812442642698 0.1353263134010411 0.8923538813510468 1.0 1.0 52 O75503,Q86SQ9,Q93063,Q12756,Q9UBB4,P07196,Q10713,Q10469,O75569,Q9NR77,O95831,P49770,P18887,Q9H6K4,Q96DP5,Q08209,Q13144 17 |
| Abnormal iliac wing morphology 0.3277474857150127 0.1343549851387497 0.8931218754778925 1.0 1.0 12 O95831,P51812,Q7RTS9,Q8TAA9 4 |
| Hyporeflexia of lower limbs 0.3216190667462276 0.1328221157857615 0.8943340634570673 1.0 1.0 13 P40939,Q9H0B6 2 |
| Abnormality of the calf musculature 0.3084872080247758 0.1318043697329824 0.8951390301624929 1.0 1.0 15 Q9H5K3 1 |
| Paranoia 0.4071406201065 0.1304708116596007 0.8961939456467054 1.0 1.0 5 Q96RL7,Q8WYQ5,P36551,P50336 4 |
| Pectus excavatum 0.2597380062616883 0.1298742995155238 0.8966658780612862 1.0 1.0 80 Q9NSD9,O75431,Q9H490,P50402,Q9BUK6,P21912,Q8NCH0,P04062,Q9BTV4,Q08J23,Q96A33,Q9Y487,Q9UHX1,Q10469,P51812,Q9Y4P3,O75718,Q7LGA3 18 |
| Osteomyelitis 0.3009245491139859 0.1293218831593284 0.8971029565699462 1.0 1.0 16 P51798,P39210,Q13126,O15269 4 |
| Abnormality of hair texture 0.2626603225393173 0.128750400561289 0.8975551533793804 1.0 1.0 56 P51798,Q9Y487,Q96A33,P51812,O75844,P29084,P17302,Q9UM00,Q9Y276,Q9NVI7,Q6NUK1 11 |
| Increased laxity of ankles 0.4380475594492982 0.128391144224834 0.8978394390409197 1.0 1.0 2 O95140 1 |
| Abnormality of the lymphatic system 0.2485443374532302 0.1280305276441481 0.898124814274496 1.0 1.0 145 P14174,Q8NBM4,Q15904,Q15392,O95202,Q14739,Q96A33,O15118,P36551,Q14108,Q9NZ08,O75845,P51798,Q658P3,Q9BT22,Q9NZJ7,O15460,P23458,P11802,P31751,P04062,P10619,Q9H0U3,Q10713,P21964,P07602,P08236,Q13510,Q96J42,Q01844 30 |
| Congenital malformation of the left heart 0.4062010648293328 0.1279208664849117 0.8982115976431944 1.0 1.0 5 Q9Y4J8,P17302,O60826,Q8N3U4 4 |
| Abnormal platelet volume 0.3394399401985443 0.1277095080655582 0.8983788653638953 1.0 1.0 9 Q14739 1 |
| Pruritus 0.2925262521360217 0.1249769364068279 0.9005418092448401 1.0 1.0 22 Q14739,P16615 2 |
| Abnormal atrioventricular conduction 0.3135596294912547 0.1235239539837429 0.9016922070058544 1.0 1.0 14 P17302,P21912,P50402,Q9BTV4 4 |
| Abnormal acetabulum morphology 0.2941430613897752 0.1231641275185442 0.9019771313369148 1.0 1.0 18 Q969X5,Q7RTS9,P08236,O75718 4 |
| Abnormal femoral head morphology 0.2938618216585947 0.1219759528745864 0.9029180628706176 1.0 1.0 19 Q7Z2Z2,Q7RTS9,O75431,Q7LGA3 4 |
| Rapidly progressive 0.3380028978028926 0.1218606862514541 0.9030093513426922 1.0 1.0 9 Q14108 1 |
| Colpocephaly 0.3370139854040682 0.1178611453200148 0.9061776801483918 1.0 1.0 9 P53701 1 |
| Cerebellar hypoplasia 0.2469440936743735 0.1172676073546576 0.9066479934736982 1.0 1.0 118 O43505,Q9H3H5,Q9BUK6,Q9Y487,O43292,Q9BV10,Q9HC21,Q5H8A4,Q9NXE4,Q5XKP0,Q9UM00,Q9H5K3,Q9H490,P23786,Q9NVI7,Q6NUK1,Q9UBM7,Q10713,P15291,Q96J42 20 |
| Joint dislocation 0.2549967422556204 0.1169141385051496 0.9069280940857014 1.0 1.0 88 Q8NBU5,Q9UBM7,P51798,Q8NCH0,Q96A33,Q9Y487,O75844,P29084,P21964,Q9UHX1,Q969X5,Q96PU5,Q9NX62,O95202,P51571 15 |
| Dysmenorrhea 0.4311639549436652 0.1156496680744798 0.9079301975386278 1.0 1.0 2 O00170 1 |
| Increased circulating gonadotropin level 0.3328105395232179 0.1153573846289436 0.9081618555388014 1.0 1.0 10 P09884,P57740,Q8IY37,Q15031,P82650,P51809,Q14781,P16435,P51659 9 |
| Abnormality of mouth size 0.2468033191193618 0.1149591193741939 0.9084775251655914 1.0 1.0 118 O75431,Q9Y487,Q15392,Q10469,Q9BUB7,P51571,O75648,Q7LGA3,O75844,P17302,Q9UM00,P15586,Q9H490,Q8NCH0,Q8WVQ1,Q9NVI7,Q6NUK1,Q9UBM7,P04062,P51812,P21964,Q9NX62,Q8NC56,Q8NFG4,Q9Y4P3,P16435,Q01105 27 |
| Panhypogammaglobulinemia 0.382253228416352 0.1146318387612814 0.9087369423686432 1.0 1.0 6 P18074,P29084 2 |
| Delayed ability to walk 0.2614733609474802 0.1099230943694647 0.9124703668702876 1.0 1.0 70 P21912,Q99720,Q10713,Q86VD7,Q96N66,Q5H8A4 6 |
| Localized skin lesion 0.2470351722196306 0.1088890667830921 0.9132904785223936 1.0 1.0 223 Q9H3H5,O75431,Q8NBM4,Q15392,Q8TAA9,O95202,O75648,Q14739,Q06136,Q5H8A4,Q7LGA3,P39210,O75844,O15269,Q96HR9,Q9UM00,P98194,P38435,Q9NWM8,Q8NCH0,Q658P3,Q9UHX1,Q03519,Q96PU5,Q9NZJ7,Q6NUK1,O15460,P16615,P11802,P21912,P04062,P53701,P21964,Q969X5,P07602,P35637,Q9Y4P3,Q13510,Q9NX14 39 |
| Supernumerary spleens 0.334304176295409 0.1070091364631274 0.9147817315278935 1.0 1.0 9 Q96J42,O95202 2 |
| Severely reduced visual acuity 0.4710485133020442 0.1066696362037399 0.9150510719330828 1.0 1.0 3 P20839,P35222 2 |
| Erythrocyte inclusion bodies 0.3980582524271971 0.1064263309773598 0.915244102612945 1.0 1.0 5 Q13586,P11413,O14936,P08865 4 |
| Thick hair 0.379283545703781 0.1058445233104598 0.9157057106806936 1.0 1.0 6 Q9Y487 1 |
| Skin ulcer 0.2761585194435247 0.1051908757171571 0.9162243506778384 1.0 1.0 30 P39210,P04062,O15269,Q03519,Q14739 5 |
| Aplasia hypoplasia involving the metacarpal bones 0.2824270406497037 0.1031560057933962 0.9178391558632056 1.0 1.0 27 Q7RTS9,P51812,Q8WVQ1,Q9NX62,Q14739,P16435,Q32P28 7 |
| Abnormality of the proximal phalanx of the thumb 0.4236545682102561 0.1026400488643536 0.9182486562818064 1.0 1.0 2 Q15233 1 |
| Symphalangism of middle phalanx of finger 0.4236545682102561 0.1026400488643536 0.9182486562818064 1.0 1.0 2 Q15233 1 |
| Frontal balding 0.4236545682102463 0.1026400488643374 0.9182486562818192 1.0 1.0 2 Q96CW1 1 |
| Short palpebral fissure 0.2822098953269998 0.1015841556497861 0.919086756342276 1.0 1.0 27 Q6NUK1,Q9NXE4,O75844,Q9UHX1 4 |
| Apraxia 0.2609034236900458 0.1005680502422312 0.9198933602973624 1.0 1.0 60 Q8N0X7,O96008,Q6DKK2,O14773,P04062,O43292,Q10713,Q7LGA3 8 |
| Abnormal endocardium morphology 0.3021541139941247 0.0980637761198457 0.9218816513144016 1.0 1.0 15 P04062,Q9NZ08,Q9Y4P3,Q8NBM4 4 |
| Abnormality of the pancreas 0.2593872068390775 0.0969901343159424 0.9227342291858616 1.0 1.0 74 P11802,Q7Z2Z2,P14174,P03886,Q9UGP8,Q8NBM4,P00403,P09601,Q15904,Q9UHX1,P03915,Q96J42,Q14739,Q01844,Q9NQH7 15 |
| Impaired antigen specific response 0.328240747562574 0.096366809444136 0.9232292516354784 1.0 1.0 10 Q9H0U3,Q9BV10,Q13546 3 |
| Cerebellar cyst 0.2623939780757025 0.0956275228393442 0.923816405303213 1.0 1.0 38 Q9UBM7,Q9Y487,P15291,P23786,Q96J42,Q9H5K3 6 |
| Respiratory failure requiring assisted ventilation 0.3751787745985671 0.0939582890520168 0.9251422906147264 1.0 1.0 6 P10253,O75648 2 |
| Tall stature 0.2591096667543854 0.0935410664471868 0.9254737263873208 1.0 1.0 55 Q9NWM8,Q8NCH0,P51530,O95202,Q13423,P16435,Q5H8A4,Q7LGA3 8 |
| T lymphocytopenia 0.330188817025587 0.0908358442860114 0.9276230281505828 1.0 1.0 9 Q9H0U3,Q13432,Q13546 3 |
| Delayed gross motor development 0.2442814094103585 0.090725431966574 0.9277107621761932 1.0 1.0 113 Q9H0B6,P21912,Q99720,Q8NCH0,Q10713,Q86VD7,Q96N66,Q5H8A4,Q01105,Q7LGA3 10 |
| Mesomelia 0.3732793898232737 0.0885615641183561 0.9294303554020896 1.0 1.0 6 Q14739 1 |
| Pain insensitivity 0.390743760813953 0.0880601457390696 0.9298288723690548 1.0 1.0 5 P39210 1 |
| Abnormal vitreous humor morphology 0.3321980877818258 0.0875794755531094 0.930210915621722 1.0 1.0 8 Q9NX14,P53701 2 |
| Elevated urinary dicarboxylic acid level 0.4593111266956796 0.0862140648494363 0.9312962502049756 1.0 1.0 3 P36551 1 |
| Respiratory paralysis 0.4593111266956796 0.0862140648494363 0.9312962502049756 1.0 1.0 3 P36551 1 |
| Porphyrinuria 0.4593111266956796 0.0862140648494363 0.9312962502049756 1.0 1.0 3 P36551 1 |
| Episodic pain 0.3061135779463024 0.0861464932707402 0.9313499646837252 1.0 1.0 14 Q13423,P21912 2 |
| Abdominal pain 0.2543132149058846 0.0859338291641672 0.9315190191835928 1.0 1.0 85 P42892,P14174,Q12769,Q9UGP8,P21912,P04062,Q8NBM4,O15460,P35637,Q14108,P36551,Q70HW3,P23786,Q9Y4P3,Q13423,Q01844,Q14566 17 |
| Short nose 0.2473206931134974 0.085659158786059 0.9317373693143394 1.0 1.0 96 P42892,Q9H490,O75845,P38435,P04062,Q8NCH0,Q9Y487,O75844,Q15392,Q9UHX1,Q9NX62,Q9NVI7,Q6NUK1 13 |
| Heterotaxy 0.3719929603123167 0.0849439359384792 0.9323059621608608 1.0 1.0 6 Q5H8A4 1 |
| Atypical absence seizure 0.458528951486706 0.0849176082030963 0.9323268930285038 1.0 1.0 3 Q05086,Q96CW1 2 |
| Atrioventricular canal defect 0.3253104643512254 0.0844400965670363 0.932706528653928 1.0 1.0 10 Q9UBM7,Q9UHX1 2 |
| Low set posteriorly rotated ears 0.256135529702287 0.0830659864688273 0.9337990712137004 1.0 1.0 80 P40855,O75381,Q9UBM7,P04062,Q8NCH0,Q10713,Q15392,Q6NUK1,Q10469,Q4J6C6,P56589,O95202,Q9UM00,Q9Y4P3,Q96J42,P37268,P16435,Q5H8A4 18 |
| Hypotelorism 0.2611921832027498 0.0818547321901252 0.9347622320626529 1.0 1.0 36 Q9NSD9,Q13586,Q9NXE4,Q9BUK6,Q08J23,P54886,Q15904,P29084,P17302,Q15042,Q5T8D3,P18074,P55795 13 |
| Impaired distal proprioception 0.3973074514715037 0.0800037593558849 0.9362342660236168 1.0 1.0 4 Q96RR1,P54098,O14802 3 |
| Large beaked nose 0.3699874686716904 0.0793650203284861 0.936742290583482 1.0 1.0 6 O75792,O14802,P18074,Q9Y3Z3,Q12797 5 |
| Abnormal foot bone ossification 0.4547819809265789 0.078822231875457 0.9371740205818504 1.0 1.0 3 Q14739 1 |
| Hypergalactosemia 0.45320813771519 0.0763187445147241 0.9391655133685716 1.0 1.0 3 P51570,Q9UJS0 2 |
| Increased circulating androgen concentration 0.4058197747183862 0.0753989288952553 0.9398973114033282 1.0 1.0 2 P04637 1 |
| Long penis 0.4058197747183852 0.0753989288952539 0.9398973114033292 1.0 1.0 2 O00170 1 |
| Nail dystrophy 0.2722500781163076 0.0750417204012234 0.9401815173732933 1.0 1.0 30 O75844 1 |
| Oral pharyngeal dysphagia 0.3037043323974548 0.0743705743610144 0.9407155222030305 1.0 1.0 14 Q13510 1 |
| Malignant hyperthermia 0.394489668127735 0.0743104804329798 0.9407633379105922 1.0 1.0 4 P50570,P36871,Q8NCE2 3 |
| Megaloblastic anemia 0.3284039926017586 0.0737658078246832 0.9411967342778504 1.0 1.0 8 P41440,O76024,P00374 3 |
| Hemoptysis 0.3838859993932786 0.0716676914927017 0.942866368476134 1.0 1.0 5 Q8NBM4 1 |
| Kyphoscoliosis 0.2566168958101188 0.0707251961274105 0.9436164674369436 1.0 1.0 54 Q8NBU5,Q8N0X7,Q9NWM8,Q9Y487,Q8NCH0,Q10469,Q9NR77,O75844,P51530,Q8TB36 10 |
| Thickened calvaria 0.3247386505161405 0.0700055574740857 0.9441892362675964 1.0 1.0 9 Q7RTS9 1 |
| Neoplasm of the thyroid gland 0.2845853646016735 0.0694603131136878 0.9446232218684424 1.0 1.0 21 P21912 1 |
| Metatarsus adductus 0.3129572958093795 0.0673476928931981 0.9463049096082848 1.0 1.0 12 P08236,O95202,Q9UBM7,Q15392 4 |
| Incomitant strabismus 0.2895910838306176 0.0668500714887966 0.9467010612465478 1.0 1.0 16 O75648,Q7LGA3 2 |
| Aplasia hypoplasia involving the pelvis 0.2824923559926126 0.0660917528383624 0.9473047767781866 1.0 1.0 17 O75431,Q8WVQ1,O95202,O95831,Q5H8A4,Q15738 6 |
| Dry skin 0.261550890092934 0.0628507618246228 0.9498853436471972 1.0 1.0 34 P11802,O96011,P52732,P00813,Q08J23,Q06136,P29084,P17302,P18074,P51648,Q2TAA5,P37268,O75352 13 |
| Genu varum 0.3198029646924588 0.0625721821292864 0.9501071814412528 1.0 1.0 10 Q7Z2Z2,Q7RTS9 2 |
| Congenital diaphragmatic hernia 0.2818510834760115 0.0621067588906763 0.9504778145750764 1.0 1.0 23 Q9NX14,P53701,O95202,Q5H8A4 4 |
| Abnormality of the spinal cord 0.2561842273010497 0.061448954512754 0.951001665928151 1.0 1.0 75 O75845,Q10713,P29084,Q9UHX1,P21964,Q8TAA9,P51530,O95202,Q9HC21,Q9Y4P3,Q5H8A4,O75298 12 |
| Advanced eruption of teeth 0.3159316442876818 0.0604983236951158 0.9517587509038 1.0 1.0 11 Q9UBM7,O75844 2 |
| Abnormality of taste sensation 0.3942428035043701 0.0603804025344414 0.9518526666872325 1.0 1.0 2 Q12756 1 |
| Vertical nystagmus 0.3933041301626935 0.0592512574466766 0.9527519837836392 1.0 1.0 2 P50542 1 |
| Alkalosis 0.3863494051346237 0.0585791268902816 0.9532873364561464 1.0 1.0 4 P01889,Q96I59,O00170 3 |
| Cranial nerve compression 0.3105841306675588 0.0571063558735623 0.9544604734329524 1.0 1.0 12 Q02978,P51798,P21912 3 |
| Amblyopia 0.2827112500021894 0.0561135018352358 0.955251387977341 1.0 1.0 18 Q9UHX1 1 |
| Posterior subcapsular cataract 0.3612326486047071 0.0558909549117302 0.9554286765026716 1.0 1.0 6 Q9H6K4 1 |
| Tetraplegia 0.3049428894484199 0.0542148248906439 0.9567640095008324 1.0 1.0 13 P54886,P51572,O43681,O95831,Q13423,P51970 6 |
| Hyperorality 0.3751957406827499 0.0520638908739055 0.9584777848332426 1.0 1.0 5 P55072,Q05086,Q14203,Q13501 4 |
| Pseudoepiphyses of the metacarpals 0.3825738329778451 0.0516441722989512 0.958812221875305 1.0 1.0 4 O95202 1 |
| Pseudoepiphyses of hand bones 0.3825738329778451 0.0516441722989512 0.958812221875305 1.0 1.0 4 O95202 1 |
| Micromelia 0.2809835364575818 0.0511028210340864 0.9592435880718652 1.0 1.0 22 Q7Z4L5,Q14739,Q9UHX1 3 |
| Cone shaped epiphysis 0.3134838918899771 0.0505608902787015 0.9596754279780656 1.0 1.0 11 Q7RTS9 1 |
| Abnormality of lower limb epiphysis morphology 0.2864178580894452 0.0500557767394906 0.9600779405804608 1.0 1.0 16 Q7LGA3 1 |
| Constriction of peripheral visual field 0.2793773865855257 0.0463410955870824 0.9630383849340458 1.0 1.0 23 Q9H061,P40855,O75381,P00846,O60313,P56589 6 |
| Miosis 0.4322378716745011 0.0461266474685532 0.963209306999914 1.0 1.0 3 Q13586,Q6XZF7 2 |
| Synostosis involving digits 0.3782091421415142 0.0439123082231359 0.9649743042223616 1.0 1.0 4 O60828,Q15233,Q9H1A4 3 |
| Congenital bilateral hip dislocation 0.3792240300375307 0.0438419241675393 0.9650304085415812 1.0 1.0 2 Q9Y4R8 1 |
| Macrodontia of permanent maxillary central incisor 0.42981005527612 0.0430052798293997 0.9656973250539762 1.0 1.0 3 P17302 1 |
| Abnormal globus pallidus morphology 0.3114844811600362 0.0425580955996484 0.9660538000711822 1.0 1.0 11 Q8WWI5,O75306,O43819 3 |
| Elevated circulating alanine aminotransferase concentration 0.314541276989185 0.0423721299157131 0.9662020454943095 1.0 1.0 10 Q15904,P10253,O75880 3 |
| Aplasia hypoplasia of the pubic bone 0.3551643243315857 0.0404754265776863 0.9677140977335684 1.0 1.0 6 Q5H8A4 1 |
| Rectal prolapse 0.3160874578691149 0.0383785412852363 0.969385869948914 1.0 1.0 9 Q08J23,P51812,Q9Y4P3 3 |
| Split nail 0.3684067469926457 0.0376687128673174 0.969951821799082 1.0 1.0 5 P29084 1 |
| Abnormality of the dorsal column of the spinal cord 0.4245436843716095 0.0364947797371106 0.9708878411046636 1.0 1.0 3 Q8WVX9 1 |
| Short sternum 0.4241001564945319 0.0359626012969658 0.9713121794933568 1.0 1.0 3 O60566,Q6KC79 2 |
| Aplasia hypoplasia of the sternum 0.4241001564945319 0.0359626012969658 0.9713121794933568 1.0 1.0 3 O60566,Q6KC79 2 |
| Long fingers 0.2533749349970437 0.0353796673144676 0.9717769976930206 1.0 1.0 77 P42892,Q9H3H5,Q8NCH0,Q9BV10,P21964,Q9UHX1,P16435,P23786,Q06136,Q5H8A4 10 |
| Abnormal lateral ventricle morphology 0.2603841014212195 0.0344942158263577 0.9724830547071311 1.0 1.0 33 O75340,Q5H8A4,Q01105,P53701 4 |
| Hypoplasia of the musculature 0.3354910134803398 0.0344835854843862 0.9724915314498908 1.0 1.0 7 Q9Y487 1 |
| Abnormal metacarpal morphology 0.2624914212650374 0.0343362288690661 0.9726090354326762 1.0 1.0 32 Q7RTS9,P51812,Q8WVQ1,P08236,Q9NX62,Q14739,P16435,Q32P28 8 |
| Abnormal form of the vertebral bodies 0.2499586440675425 0.0340596156210239 0.9728296118523532 1.0 1.0 86 Q9BV10,Q8TAA9,O95202,O15228,Q14739,Q5H8A4,Q7RTS9,P17302,Q9UM00,P15586,O75845,P51798,Q9UHX1,Q6NUK1,Q32P28,Q9UBM7,P51812,Q10713,P08236,Q9Y4P3,P16435 21 |
| Hyperuricemia 0.3148184820115066 0.0338926910891047 0.9729627215073644 1.0 1.0 9 P35610,P49257 2 |
| Wide nose 0.2555004194580373 0.0336819598522301 0.973130764762363 1.0 1.0 37 P52732,P53701,P51812,Q9BV10,O60566,Q9UM00,Q9NX14,Q12797,Q5H8A4 9 |
| Renal cyst 0.2550593813460683 0.0319179521612441 0.9745374821788876 1.0 1.0 63 O43505,P40855,Q16134,P56589,Q15056,P61619,Q9UHX1,O60566,P23786,Q9NQH7,Q9NWS8,O75381,Q9UGP8,Q9UBM7,Q10713,P21964,Q8NFG4,Q9Y4P3,Q96J42 19 |
| Moderate albuminuria 0.4199231685249818 0.0310722545670619 0.9752119166295684 1.0 1.0 3 Q5JRA6 1 |
| Abnormal length of corpus callosum 0.3645181476845954 0.0306328575424372 0.9755623379095248 1.0 1.0 2 P48449 1 |
| Multifocal cerebral white matter abnormalities 0.3697557921102024 0.0298037011273667 0.976223607006644 1.0 1.0 4 O75792,Q9Y3Z3,P10253 3 |
| Abnormal cerebral cortex morphology 0.2435614146064773 0.0294346589645933 0.976517930916048 1.0 1.0 225 Q9H3H5,Q9Y487,Q15392,Q9BV10,Q9BUB7,Q9HC21,O75648,Q96N66,P03886,Q7LGA3,Q96AA3,P40855,O75503,P00403,P51572,P29084,Q9UM00,Q9NZ01,Q9H5K3,Q86XL3,P03915,Q96PU5,P23786,P37268,Q9NWS8,P00846,O75381,O96008,Q9UBM7,P04062,P51812,Q10713,O75306,O43819,Q9Y320,P35637,Q9Y4P3,Q01105 38 |
| Decreased activity of mitochondrial complex iii 0.3493107769423689 0.0262808890864807 0.979033297946396 1.0 1.0 6 Q5JPH6,P53597,P43897,Q9H0R6,Q96RP9 5 |
| Lipid accumulation in hepatocytes 0.253763130454721 0.0251956152454737 0.9798989343746942 1.0 1.0 73 O75431,Q7KZN9,Q15904,Q15067,O75648,P40939,Q8N511,Q5XKP0,Q16134,P39210,P55263,Q9Y276,Q16836,P22626,Q9NSD9,Q9Y375,P49748,Q9Y6B6,P23786,Q5JPH6,P31751,Q9NWS8,Q9UJS0,Q9P2J5,Q96DA6,P50416,O75880 27 |
| Central primitive neuroectodermal tumor 0.3570087609511738 0.0249323112370221 0.9801089545992784 1.0 1.0 2 P04637 1 |
| Choriocarcinoma 0.3570087609511738 0.0249323112370221 0.9801089545992784 1.0 1.0 2 P04637 1 |
| Abnormality of the ureter 0.2545591986400993 0.024813196488004 0.9802039650245972 1.0 1.0 66 Q9UBM7,P21912,Q86XL3,O75844,Q9UHX1,P21964,Q8TAA9,P23786,Q96J42,P16435,Q7LGA3 11 |
| Finger swelling 0.3566958698372844 0.0247092031051431 0.980286914306464 1.0 1.0 2 Q01968 1 |
| Congenital malformation of the right heart 0.3317616266798163 0.0239365310682842 0.9809032350446962 1.0 1.0 7 P40855 1 |
| Abnormality of the lower urinary tract 0.2432784902456717 0.023318504121719 0.9813962115720344 1.0 1.0 225 Q99720,P07196,Q9BV10,Q9BUB7,Q8TAA9,O95202,P51571,Q9BRK0,Q5H8A4,O75298,P40855,Q8WWI5,O75844,Q9NR77,P12235,Q3ZCQ8,P56589,Q8N0X7,Q9UBX3,Q9NWM8,Q8NCH0,Q9UBB4,Q86XL3,Q9UHX1,O43681,Q9NZJ7,P37268,O75381,Q9UBM7,P21912,P04062,P53701,P51812,P21964,P07602,P35637,Q9Y4P3,Q9NX14,Q96J42,P16435 40 |
| Overweight 0.3611024115252157 0.0230876714407042 0.9815803398314756 1.0 1.0 5 P49748,Q01082,Q9HCK8,Q93009 4 |
| Distal upper limb amyotrophy 0.2867893455074647 0.0210011975313331 0.9832447003954106 1.0 1.0 15 Q9BQT8,Q8TB36,Q9NR77 3 |
| Large hands 0.305857203154111 0.0206004187624168 0.9835644064136252 1.0 1.0 11 P51812,O00170,P21912 3 |
| Abnormal waist to hip ratio 0.346730020722914 0.0202353993073191 0.9838555890975764 1.0 1.0 6 Q9Y6M1,P31751,O76024 3 |
| Abnormality of vitamin a metabolism 0.3589707533483711 0.0190098806589316 0.9848332232087842 1.0 1.0 5 Q7Z2Z2 1 |
| Macule 0.253955391123195 0.0188134119240537 0.984989954548755 1.0 1.0 64 Q06136,O75844,P21912,P16615 4 |
| Head titubation 0.3299072572171543 0.0188058171417633 0.9849960132364056 1.0 1.0 7 Q99720 1 |
| Milia 0.4078247261345936 0.0181206367694831 0.9855426148924584 1.0 1.0 3 Q9H4L7,P50336 2 |
| Intractable diarrhea 0.4078247261345926 0.0181206367694822 0.9855426148924592 1.0 1.0 3 Q15477,Q6PGP7 2 |
| Hypoplastic fingernail 0.2963468362947108 0.016644227364369 0.9867204411023492 1.0 1.0 13 P51812,Q14739 2 |
| Sound sensitivity 0.3112927371656055 0.0156147201253838 0.987541762152944 1.0 1.0 8 P17900,Q9Y4P3 2 |
| Hyperacusis 0.3112927371656055 0.0156147201253838 0.987541762152944 1.0 1.0 8 P17900,Q9Y4P3 2 |
| Hypoplastic hippocampus 0.3423028785982386 0.0156110633788027 0.9875446794589976 1.0 1.0 2 Q96RL7 1 |
| Muscle hypertrophy of the lower extremities 0.3110991670925273 0.0149972492171121 0.9880343749432152 1.0 1.0 8 Q9NR77,Q8NCE2 2 |
| Weakness of long finger extensor muscles 0.4043818466353782 0.0147552356252464 0.9882274524857362 1.0 1.0 3 Q13501,Q9Y223 2 |
| Myoglobinuria 0.3068498132217339 0.0141122226329843 0.9887404491760868 1.0 1.0 10 P40939,Q16836 2 |
| Portal fibrosis 0.3582797172371537 0.0124578000759192 0.9900603707582668 1.0 1.0 4 P55263 1 |
| Elevated circulating aspartate aminotransferase concentration 0.2997832598078214 0.0124247469591682 0.9900867412888436 1.0 1.0 12 P40939,O75880 2 |
| Interictal eeg abnormality 0.2487219976033729 0.0116458154442407 0.9907081936931208 1.0 1.0 85 Q8NBU5,Q9H936,Q9UBX3,Q9H3H5,O75503,Q9UBB4,Q10469,P13073,Q3ZCQ8,O75340,Q9NQZ5,P00367,Q14108,Q2TAA5,Q96N66,Q5H8A4,Q9NZ01 17 |
| Abnormal patella morphology 0.2719211151288734 0.0111340004259467 0.991116536501732 1.0 1.0 25 Q9NX62,P21964 2 |
| Neoplasm of the larynx 0.357232310582342 0.0109768857352544 0.9912418882269268 1.0 1.0 4 P04637,P52701,P43246 3 |
| Somatic mosaicism 0.3313516896120054 0.0100887988183614 0.9919504397385694 1.0 1.0 2 P00813 1 |
| Bilateral cryptorchidism 0.307854373140663 0.0099954715143701 0.9920249003989304 1.0 1.0 9 P27635,P37268,P48449,Q96DA6 4 |
| Enterocolitis 0.3304130162703281 0.0096664694473973 0.9922873933824417 1.0 1.0 2 P49748 1 |
| Night sweats 0.330100125156436 0.0095273961556006 0.9923983527048404 1.0 1.0 2 Q9UJS0 1 |
| Spondyloepiphyseal dysplasia 0.3285356695869741 0.0088446539906312 0.9929430791433732 1.0 1.0 2 P27635 1 |
| Bladder diverticulum 0.309117510920865 0.0087294938169196 0.9930349601206904 1.0 1.0 8 Q9NWM8,Q9Y4P3 2 |
| Chronic constipation 0.2713227730629342 0.0073088837572673 0.9941684064138292 1.0 1.0 25 P04062 1 |
| Peptic ulcer 0.3014649491788181 0.0040579678618389 0.9967622189809526 1.0 1.0 11 P04062,O76024,Q15056,Q9Y4P3 4 |
| Vertebral wedging 0.3906103286385082 0.0026431575187457 0.997891067879622 1.0 1.0 3 Q15436,Q8WVQ1 2 |
| Squamous cell carcinoma 0.2925366109806565 0.0006879970740698 0.9994510578000282 1.0 1.0 13 P14324,P53634,P29084 3 |
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