| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Increased bone mineral density 0.6484219786483656 2.9381590853028654 0.0033016755575667 0.9999997584007072 0.355920681398395 24 Q15043,P54802,Q15125,Q13126,Q14108,Q14739,Q9Y4P3,P04062,P51798,Q15392 10 |
| Abnormal circulating lipid concentration 0.4860150495984801 2.8599979352339595 0.0042364376633723 0.9999999967955562 0.355920681398395 79 P23786,P22830,Q9Y5L0,P50402,P49748,Q14739,Q9UJS0,Q15800,O43772,Q15125,P06280,O95470,Q8N511,P31751,Q15392,Q9NZJ7,O75381,P07602,Q9BV10,P61916,O75844,P42858,Q9BTV4,O75845,Q15904,Q9NVI7,Q9UBM7,Q9Y4P3 28 |
| Disproportionate short stature 0.6102125624605325 2.8114211259458997 0.0049323182100782 0.999999999872054 0.355920681398395 29 P10644,Q7LGA3,Q9UHX1,Q15125,Q9BV10,P16278,Q9UBM7,Q14739,Q8WVQ1,P42345,Q03164,Q15392,Q96HA7 13 |
| Clumsiness 0.6513231477636294 2.781592940613108 0.0054092839749837 0.9999999999859476 0.355920681398395 22 O14773,P07602,O75503,O00165,Q13510,P42858,Q9NR77,Q15067,Q9NZJ7 9 |
| Abnormality of femur morphology 0.4746825275855002 2.773436898307522 0.0055467596528107 0.9999999999925668 0.355920681398395 75 Q7LGA3,P16278,P04066,Q14739,Q96A33,Q96L58,Q9UHX1,P06280,P16435,Q8WVQ1,P51798,Q9NZJ7,Q96HA7,O95831,Q9Y487,P07602,Q9BV10,O75844,O00443,Q9Y619,P04062 21 |
| Biliary tract abnormality 0.6078897746222213 2.7557648246202677 0.0058555081561639 0.9999999999982222 0.355920681398395 26 P07602,Q14108,P09601,Q14739,P04062,O95202,Q9NZJ7 7 |
| Abnormal circulating cholesterol concentration 0.5821619334434179 2.745815413107896 0.0060360714324863 0.99999999999923 0.355920681398395 37 P50402,Q14739,Q9UJS0,Q15800,Q15125,Q8N511,Q15392,Q9NZJ7,P07602,Q9BV10,P38571,P61916,P42858,Q9BTV4,O75845,Q15904,Q10471,Q9NVI7,Q9UBM7 19 |
| Cherry red spot of the macula 0.849382590833509 2.7309593848385147 0.0063150253618391 0.9999999999997888 0.355920681398395 9 P07602,P16278,P17900,Q13510,P10619,Q9NZJ7 6 |
| Abnormality of head blood vessel 0.6401940205243897 2.6302975145852803 0.0085310172986543 1.0 0.355920681398395 21 P07602,P16278,P17900,Q13510,Q9Y4P3,P10619,Q9NZJ7 7 |
| Corneal opacity 0.5071200025198636 2.5920524516349306 0.0095405224585425 1.0 0.355920681398395 52 O75845,O75381,P51648,Q06136,P06280,P16278,P53701,Q9NVI7,P04066,O75844,O43505,Q9UBM7,Q13510,Q16625,Q9Y4P3,P04062,O95202,P10619 18 |
| Macular degeneration 0.7126528639444939 2.5873012592287576 0.0096730978936905 1.0 0.355920681398395 14 P51648,Q9NW15,P50897,Q13510,P04062 5 |
| Dementia 0.4754873997989871 2.581247767014119 0.0098443900385201 1.0 0.355920681398395 58 Q14203,P04350,Q14108,Q06787,Q96RL7,O96008,Q96RR1,P06865,O60313,P05067,Q9NZJ7,Q9Y487,P07602,P61916,O76024,P42858,P00403,Q8WVX9,P21912,Q9UBB4,P17900,O43681,Q13510,P04062,Q9UHD9 25 |
| Pathologic fracture 0.6844445077825858 2.575828051793804 0.0100000362001724 1.0 0.355920681398395 16 O75845,Q96L58,Q13126,Q14108,P04062 5 |
| Abnormal retinal artery morphology 0.6608429243343257 2.5705590293615703 0.0101534521377224 1.0 0.355920681398395 18 P07602,P16278,P17900,Q13510,Q9Y4P3,P10619,Q9NZJ7 7 |
| Abnormality of epiphysis morphology 0.4848879701818878 2.567846460736225 0.0102332470932953 1.0 0.355920681398395 56 O75381,O95831,Q7LGA3,Q96L58,Q96HA7,P10644,O00443,Q15125,Q9Y619,P16278,P16435,Q9HC07,Q14739,Q8WVQ1,O95202,P51798,P38435 17 |
| Hypersplenism 0.8496966190123287 2.5574868387651333 0.0105431547555538 1.0 0.355920681398395 8 P07602,P04062,Q14108 3 |
| Rhizomelia 0.7057148779439021 2.5481254562289264 0.0108303514833951 1.0 0.355920681398395 14 Q9BV10,Q15125,Q9UBM7,Q14739,Q03164,Q15392,Q96HA7 7 |
| Abnormal biliary tract morphology 0.604163200958608 2.537219246032175 0.0111736952014969 1.0 0.355920681398395 23 Q9Y5L0,Q9UJW0,P07602,Q14108,P09601,Q14739,Q10713,P04062,Q9NZJ7 9 |
| Avascular necrosis 0.603789710440153 2.5345654080303497 0.0112586906295684 1.0 0.355920681398395 23 Q9Y619,Q14108,O75844,Q9BUR4,P04062,Q9NZ08,P51798 7 |
| Osteoarthritis 0.7256125687751699 2.528350374218944 0.011459992227081 1.0 0.355920681398395 12 O75844,P04062,P51798,Q14108 4 |
| Premature rupture of membranes 0.8833462646202819 2.5269853040480923 0.011504631669474 1.0 0.355920681398395 6 Q9Y487 1 |
| Dermal atrophy 0.5743476263849436 2.4955317229536553 0.0125768509015145 1.0 0.361963941386117 25 P10644,Q96L58,P53701,P53634,Q9H1A4,O75844,Q8NCH0,Q9NWM8,P18074,Q15392 10 |
| Disproportionate short limb short stature 0.5855868224376569 2.488148762987262 0.0128410007359494 1.0 0.3651758666081414 24 P10644,Q7LGA3,Q15125,Q9BV10,Q9UBM7,Q14739,Q8WVQ1,P42345,Q03164,Q15392,Q96HA7 11 |
| Mental deterioration 0.4678890798772661 2.4788723676325635 0.0131798458563614 1.0 0.3725125758297988 96 Q9BQE5,Q14203,P16278,P04350,O43819,Q14108,P50897,Q06787,Q96RL7,O96008,Q5XKP0,Q96RR1,P21964,P54802,P06865,O95470,O60313,P18074,Q03164,P05067,Q9NZJ7,Q9NPL8,Q9Y487,P07602,P61916,O76024,O75306,P42858,P00403,Q8WVX9,P10644,P21912,Q9UBB4,O75503,P17900,O43681,Q13510,Q10713,P04062,Q9UHD9 40 |
| Delusions 0.6171693888593293 2.475319061345856 0.013311719412749 1.0 0.3739456788691138 21 P49770,P21964,Q9BQE5,P04062,P07602,P42858,Q96RL7,Q9NR50,Q9UJS0,Q9NZJ7 10 |
| Abnormality of corneal stroma 0.7041571002191405 2.4725268586840228 0.0134161631944509 1.0 0.3745955384050635 13 O75845,P16278,O43505,Q13510,P04062,P10619 6 |
| Increased cerebral lipofuscin 0.9184441656210732 2.4340198043368804 0.0149321780691029 1.0 0.3999566532811475 5 O75503,P50897,P07602,Q9NZJ7 4 |
| Abnormality of lysosomal metabolism 0.9094079391314046 2.3960892556609856 0.0165710545429056 1.0 0.4155026225291893 5 P07602,P51798,Q13510 3 |
| Generalized joint laxity 0.7003394611201762 2.390724795543449 0.0168151518002142 1.0 0.4187427261815504 12 Q8NCH0,Q9UHX1,Q9Y487 3 |
| Bulbar signs 0.69976338266777 2.387561903834147 0.0169605461381603 1.0 0.4200926669812079 12 P07602,Q99720,P04062,Q9NZJ7 4 |
| Endocarditis 0.9022492779840072 2.365926095793307 0.0179850341831744 1.0 0.4308628767744959 5 P10644,P04062 2 |
| Psychomotor deterioration 0.7728011366812105 2.3651465492221813 0.0180229375578142 1.0 0.4308628767744959 9 Q9Y487,P07602,P50897,Q03164,Q9NZJ7 5 |
| Abnormality of the ribs 0.4326029358993218 2.3603989567772907 0.0182552906874338 1.0 0.4308628767744959 68 O95831,Q96L58,Q9UHX1,P54802,Q9BV10,Q9Y619,P16278,P16435,Q03164,O75844,Q14739,P15586,Q9UM00,O95202,P51798 15 |
| Increased susceptibility to fractures 0.48955180447269 2.332517408460518 0.0196734881939488 1.0 0.4421256590708412 50 O75845,P10644,Q96L58,Q13126,P16435,Q14108,Q14739,O15269,O75874,Q9BUR4,P04062,P51798 12 |
| Meningitis 0.8887430284837909 2.308743135508402 0.0209578391745477 1.0 0.4461747734685702 5 P02786 1 |
| Clonic seizure 0.8334245853046798 2.3078444905945035 0.0210077873814589 1.0 0.4461747734685702 6 P07602 1 |
| Abnormality of alkaline phosphatase level 0.5719375194688197 2.305348271406209 0.0211470760982404 1.0 0.4461747734685702 23 O75845,Q9Y5L0,Q92643,P11274,P38571,Q8N511,Q14739,Q96AY3,P51798,Q96A33,Q9UJS0 11 |
| Splenomegaly 0.4422245897056025 2.299894340947721 0.0214542067866709 1.0 0.4461747734685702 84 P16278,P28288,Q14108,P04066,Q14739,P33991,Q96RL7,Q9NZ08,Q96A33,P21964,P54802,P15586,Q9BUR4,Q96HY6,P51798,P28070,Q15392,Q9NZJ7,Q9BT22,P07602,P38571,P61916,Q16625,P10253,Q15904,O00443,Q13510,Q10713,P04062 29 |
| Bilateral tonic clonic seizure with generalized onset 0.7585885480422363 2.2954877264002147 0.0217051889976391 1.0 0.4461747734685702 9 Q13510 1 |
| Erlenmeyer flask deformity of the femurs 0.9410473502665428 2.2920279825724483 0.0219040285146605 1.0 0.4461747734685702 4 P07602,P04062,P51798 3 |
| Urinary glycosaminoglycan excretion 0.8295969304087787 2.290810522804062 0.0219743747749874 1.0 0.4461747734685702 6 P16278,P15586,P54802,O00443 4 |
| Severe short stature 0.55899874771109 2.29078192380793 0.0219760296187416 1.0 0.4461747734685702 24 O75419,Q96L58,P21912,Q9Y619,P16278,P53701,Q8WVQ1,Q96HY6,Q07864,Q15392,P10619 11 |
| Dilatation of the cerebral artery 0.7003954981679887 2.277758199204194 0.0227409880867408 1.0 0.4546699844270295 11 P10644,P10253,P38435 3 |
| Prominent superficial blood vessels 0.6998217402254869 2.2746784530668713 0.0229252259790015 1.0 0.4546699844270295 11 Q9Y487 1 |
| Focal white matter lesions 0.822130573097207 2.2739666706950383 0.0229679905245752 1.0 0.4546699844270295 7 O00584,P12235,P42345,O00443 4 |
| Ventricular preexcitation 0.9332079021636894 2.260070755880443 0.0238168598048169 1.0 0.4669118005140074 4 O75306,P13473,P10253 3 |
| Hemivertebrae 0.6653570187344552 2.253718043032696 0.0242139115395787 1.0 0.469913759788985 13 Q15125,Q9Y619,Q9UHX1,Q9UM00 4 |
| Capillary hemangioma 0.8206887444550948 2.251038937861551 0.0243830712938206 1.0 0.469913759788985 6 Q7LGA3,P16435,Q9UHX1 3 |
| Contractures of the joints of the upper limbs 0.4264984501490392 2.2427102602041344 0.0249155045741147 1.0 0.4706803458373139 72 O75419,Q7LGA3,P23786,P50402,Q99720,Q96L58,P16435,Q8IZA0,O95155,Q8WVQ1,P18074,Q9NR77,Q15392,P37268,O75844,P42892,Q9BTV4,P07196,O00443,Q9Y619 20 |
| Progressive external ophthalmoplegia 0.747682605490461 2.2416561328129396 0.0249836050823892 1.0 0.4706803458373139 9 P00403,Q96RR1,P12235 3 |
| Low frustration tolerance 0.7114410243802027 2.2313495191190147 0.0256579859179491 1.0 0.4805135818048435 10 Q03164,Q9UHX1 2 |
| Proportionate short stature 0.5259903642195392 2.221350531098682 0.0263272288233915 1.0 0.4841890075261358 34 O75419,P10644,Q96L58,P21912,Q9Y619,P16278,P53701,Q14739,Q8WVQ1,Q96HY6,Q07864,Q15392,P10619 13 |
| Abnormal diaphysis morphology 0.4176852833538771 2.2161612005364453 0.0266804640624938 1.0 0.4841890075261358 65 Q96L58,Q7LGA3,Q9Y487,Q13126,Q9Y619,P16278,P16435,Q9HC07,Q14739,Q8WVQ1,Q9Y4P3,P51798,Q9NR77 13 |
| Glomerulopathy 0.7080062089235976 2.2134194007671555 0.0268687443354989 1.0 0.4841890075261358 10 Q9NZ08,Q14108 2 |
| Left ventricular systolic dysfunction 0.8122819224938517 2.213341564859722 0.026874106056079 1.0 0.4841890075261358 6 O75844,P12235,P49748 3 |
| Abnormal cardiac ventricular function 0.6121275001012598 2.211373633819196 0.0270099741121323 1.0 0.4841890075261358 17 P21912,P10253,P49748,O75844,P12235,P00403 6 |
| Hypoplastic vertebral bodies 0.8639536639786619 2.202859804949206 0.0276046314158679 1.0 0.4880337283459198 5 P16278,Q14739 2 |
| Abnormality of the wrist 0.5264675670502222 2.194877710714128 0.0281723711009191 1.0 0.4880337283459198 32 O95831,Q96L58,Q15125,Q9BV10,P16278,P16435,O75844,Q13510,Q8WVQ1 9 |
| Hyperconvex nail 0.7377928301313093 2.1925555899792184 0.028339413771109 1.0 0.4880337283459198 9 P42892,O95202 2 |
| Abnormality of pulmonary circulation 0.5340191494317269 2.1924867224508335 0.0283443807854266 1.0 0.4880337283459198 26 Q8IZA0,Q14108,O75844,P00403,P04062,P51798 6 |
| Slender long bone 0.6314098946069504 2.1825868821805123 0.0290662466770392 1.0 0.4929113696798918 15 O75419,Q96L58,Q9Y487,Q9Y619,P37268,Q9H490,Q32P28,Q9H2M9 8 |
| Abnormal epiphyseal ossification 0.6310379789365451 2.180335456276472 0.0292326046706712 1.0 0.4929113696798918 15 O75381,P10644,Q96L58,P38435,Q15125,Q14739,Q96HA7 7 |
| Microretrognathia 0.6306974636787294 2.178273633823854 0.0293856709028619 1.0 0.4929113696798918 15 Q15650,Q9UHX1,Q9Y4R8,P41227,Q15125,P27635,Q8NCH0,Q8WVQ1,Q16625,P53007 10 |
| Arthritis 0.50687243004085 2.1770705771230197 0.0294753019547582 1.0 0.4929113696798918 40 P21964,P04062,P10321,P06280,Q14108,O75844,Q14739,Q13510,Q8WVQ1,P61619,Q96HY6,Q96RL7,Q9NZ08,P51798 14 |
| Aplasia hypoplasia of the femur 0.6183503388020422 2.1736008945550735 0.0297351211866834 1.0 0.4929113696798918 16 O95831,Q96L58,Q9UHX1,Q9BV10,Q8WVQ1,Q96HA7 6 |
| Dysostosis multiplex 0.7996007758925515 2.172204629650641 0.0298402316435963 1.0 0.4929113696798918 7 P16278,P15586,P54802,P10619 4 |
| Sensorimotor neuropathy 0.5281371914609575 2.172065522009969 0.0298507211071608 1.0 0.4929113696798918 29 O95831,P07196,Q5KU26,P07602,Q8N2K0,Q9Y2R0,O60313,P00403,Q9NR77,Q9NZJ7 10 |
| Elevated pulmonary artery pressure 0.5613641576491468 2.154787115984995 0.0311784969241224 1.0 0.498486955587177 22 Q8IZA0,Q14108,O75844,P04062,P51798 5 |
| Abnormal form of the vertebral bodies 0.4297869935374767 2.151223597598286 0.0314585553329513 1.0 0.498486955587177 84 P16278,P04066,Q14739,O75874,O95202,Q96L58,Q9UHX1,P54802,Q15125,P16435,P15586,Q8WVQ1,P48735,P51798,Q96HA7,O95831,Q9BV10,Q9UM00,O75845,P10644,Q9Y619,Q9UBM7,Q9Y4P3 23 |
| Mitral valve calcification 0.9060478805429896 2.148551624043235 0.0316699599667527 1.0 0.498486955587177 4 O75844 1 |
| Cardiac valve calcification 0.9060478805429896 2.148551624043235 0.0316699599667527 1.0 0.498486955587177 4 O75844 1 |
| Ventricular arrhythmia 0.5108890992826315 2.1471139353611446 0.031784212151821 1.0 0.498486955587177 37 Q96RR1,P23786,O43772,P21912,P10253,P50402,P49748,P13473,P12235,O75306,P00403,P42892 12 |
| Aplasia hypoplasia involving the femoral head and neck 0.6952839094301481 2.1466928078529506 0.0318177457305912 1.0 0.498486955587177 10 O95831,Q96L58,O00443,Q8WVQ1,Q96HA7 5 |
| Bone pain 0.5597885439013669 2.14342084341692 0.0320793208981022 1.0 0.498486955587177 22 P10644,P07602,Q14108,O75874,P04062,P51798,Q9NZJ7 7 |
| Ovoid vertebral bodies 0.7598792360098752 2.1389269476243875 0.0324415852150092 1.0 0.4998613093039179 8 P16278,Q96L58,P54802 3 |
| Ankle clonus 0.6451490786080103 2.137588969009211 0.0325501178187921 1.0 0.4998613093039179 13 Q15043,P07602,Q9NW15,Q9NZJ7 4 |
| Diffuse white matter abnormalities 0.7574016890316468 2.1270946116238414 0.0334122229003934 1.0 0.5097023539805057 8 O75306,P16278,O43819,Q9Y5P6 4 |
| Subcutaneous nodule 0.5984656829607039 2.123882346598293 0.0336799829132934 1.0 0.5104791354656822 17 P21912,P06280,Q13510,O75874,P52732,P11802,P48735,Q9NZ08 8 |
| Hypocalcemia 0.6217325133014858 2.1238253188240224 0.0336847530239998 1.0 0.5104791354656822 15 P10644,O00443,Q9BV10,P49748,Q4J6C6,P51798 6 |
| Generalized clonic seizure 0.8442953016842438 2.1180433780482613 0.0341713941504999 1.0 0.5123212694359819 5 P07602 1 |
| Abnormal pulmonary interstitial morphology 0.5197868037233706 2.1150612363372403 0.0344247284905741 1.0 0.5123212694359819 30 Q8IZA0,Q14108,P09601,Q13510,Q13432,P04062 6 |
| Elevated serum acid phosphatase 0.897811259760599 2.1144888176018912 0.0344735388593779 1.0 0.5123212694359819 4 P07602,P51798 2 |
| Unusual infection by anatomical site 0.6494492121408901 2.106850576932535 0.0351305338128831 1.0 0.5138004242377882 12 P02786,Q14739 2 |
| Abnormal muscle fiber morphology 0.4123268353210038 2.105611664900818 0.0352380985615514 1.0 0.5138004242377882 69 O43676,Q99720,P23786,Q96RR1,Q9Y5L0,Q9BPX6,O95831,P50402,Q9H2D1,Q70HW3,O60313,P12235,Q9Y5P6,P00403,Q96RL7,P05067,Q9BTV4 17 |
| Abnormal enchondral ossification 0.5198068460192575 2.1047234821408756 0.0353153851960545 1.0 0.5138004242377882 29 O75381,P10644,Q96L58,P38435,Q15125,Q9Y619,Q14739,Q8WVQ1,O95202,Q96HA7 10 |
| Increased connective tissue 0.7526342702918924 2.1042831868908474 0.0353537517871453 1.0 0.5138004242377882 8 P31751,O95831,Q9Y5L0 3 |
| Atrophic scars 0.7866108771898846 2.0972459450691123 0.0359718092253225 1.0 0.5211387581794363 6 Q8NCH0,Q96L58,Q9NWM8 3 |
| Pedal edema 0.7823667079178577 2.093579855257694 0.0362974236261375 1.0 0.5242076195787323 7 P04062,Q14108 2 |
| Bruising susceptibility 0.5150390256245084 2.087637433151254 0.0368305526395973 1.0 0.5302448625332029 31 P10644,Q13126,Q14108,Q8NCH0,P04062,P51798,P38435 7 |
| Abnormal middle phalanx morphology of the hand 0.7470945478127147 2.0777053968062087 0.037736501681949 1.0 0.5415952126128954 8 Q9UHX1 1 |
| Vascular skin abnormality 0.4499016074240007 2.063533741053639 0.0390619454906751 1.0 0.5554271076405561 117 P51648,P38435,P22830,Q9Y5L0,P16278,Q14108,P04066,Q14739,Q9NWM8,Q96L58,P21964,Q15125,P06280,Q8IZA0,O95155,Q9BUR4,P51798,Q9Y487,Q13126,P53701,O75844,Q8NCH0,O75306,Q5T2R2,Q16625,P00403,Q07864,P10644,Q06136,P21912,Q9UBM7,Q9H1A4,P04062,P10619 34 |
| Oromandibular dystonia 0.778246941408635 2.059102793145204 0.0394843923326466 1.0 0.5596283462061287 6 Q15043,Q99720 2 |
| Respiratory arrest 0.7745927855508682 2.057893517455054 0.0396003561673969 1.0 0.5596283462061287 7 P13473,Q96L58,P23786,O43772 4 |
| Exercise induced muscle cramps 0.777342519138087 2.054968950754167 0.0398820037831473 1.0 0.5618849890793874 6 P53985,P23786 2 |
| Aplasia hypoplasia of the capital femoral epiphysis 0.7769678084974321 2.0532557314180546 0.0400477818286515 1.0 0.562177540643044 6 Q7LGA3,Q8WVQ1 2 |
| Foam cells 0.7767446052133241 2.0522350734159884 0.0401468224162278 1.0 0.562177540643044 6 O75845,P61916,P16278,Q13510 4 |
| Ventricular hypertrophy 0.5016057492352098 2.0480808172737452 0.0405520811915007 1.0 0.5644212629886528 36 P23786,O43772,P21912,P10253,Q9BV10,P06280,O75844,P12235,P00403 9 |
| Mandibular aplasia 0.7750336985366133 2.04440783293138 0.0409132741413955 1.0 0.5667030789659903 6 O75419,Q9Y619,O15111,P53701 4 |
| Abnormal elasticity of skin 0.4119758500063343 2.0439140233665527 0.0409620415228293 1.0 0.5667030789659903 61 P10644,Q96L58,Q9UHX1,Q15904,Q9Y487,Q9BV10,Q13126,P07437,O75844,Q8NCH0,Q9Y4P3,P04062,P38435 13 |
| Nasogastric tube feeding in infancy 0.7063669996490404 2.0347445213326325 0.0418765859369552 1.0 0.577621052130397 9 P07602,Q9UHX1 2 |
| Insidious onset 0.7721842987880864 2.0313577710953927 0.042218714907136 1.0 0.5781557038251633 6 P04062,Q9NR77 2 |
| Lissencephaly 0.439090532274161 2.0310689073794297 0.0422480050151712 1.0 0.5781557038251633 55 Q96EK5,P23786,Q96RT7,Q9Y487,Q6ZXV5,Q9BV10,O95721,P43034,Q86XL3,O43505,Q15058,Q9BVA1,Q9HC21,Q9H2M9,Q9Y5P6,Q16625,Q9UPN3,Q15392 18 |
| Unexplained fevers 0.7719982090709608 2.0305048709508475 0.0423052465537214 1.0 0.5781557038251633 6 P07602,Q9HC07 2 |
| Epiphyseal stippling 0.6540083742588205 2.025304466813199 0.0428361101470309 1.0 0.5793306694956029 11 O75381,P10644,Q15125,Q14739,P38435 5 |
| Muscle stiffness 0.5523782953864205 2.024589607547235 0.042909522275075 1.0 0.5793306694956029 21 P23786,Q9NW15,P53985,P07602,Q15392 5 |
| Long toe 0.6722011373725569 2.024368187208253 0.0429322824918159 1.0 0.5793306694956029 10 P23786,Q9UHX1 2 |
| Abnormal rib cage morphology 0.4147737288769811 2.0236465563054047 0.0430065311411973 1.0 0.5793306694956029 79 O95831,Q96L58,Q9UHX1,P54802,Q9BV10,Q9Y619,P16278,P16435,Q9UBM7,O75844,P51798,Q14739,P04066,Q9UM00,P15586,Q8WVQ1,O95202,Q03164 18 |
| Ureteral duplication 0.8214137937518801 2.0183896225522227 0.0435506993134668 1.0 0.582515548303006 5 P23786 1 |
| Mild short stature 0.8742824178706391 2.016574605880863 0.0437399252930821 1.0 0.582515548303006 4 P10644,Q14739 2 |
| Abnormal intraocular pressure 0.7689428297967671 2.0164903548234507 0.0437487257896331 1.0 0.582515548303006 6 Q8NCH0,P04439 2 |
| Chronic diarrhea 0.573770802228916 2.0084851501174574 0.044591762506424 1.0 0.5920295385218893 18 Q15904,P02786,Q7Z5L9,Q13510,P50851,P18074,Q9BT22,Q96A33 8 |
| Atlantoaxial abnormality 0.8712529909020283 2.003903227842088 0.0450804277253769 1.0 0.596785188399113 4 Q8NCH0,Q96L58 2 |
| Short middle phalanx of finger 0.8703949252278171 2.000311506349894 0.045466637315072 1.0 0.596785188399113 4 Q9UHX1 1 |
| Abnormality of the gingiva 0.4727673642497217 1.996032630400267 0.0459303711464904 1.0 0.6011398291814816 45 O75845,P10644,P16278,Q14108,Q14739,Q9UM00,Q9BUR4,P04062,Q15392 9 |
| Airway obstruction 0.610405893643612 1.991550054877005 0.0464204480050916 1.0 0.6029429173939985 14 P21964,P06280,P16435,O75844,P09601 5 |
| Abnormal vascular physiology 0.4656425754196911 1.9891205822777671 0.0466878950305091 1.0 0.6029429173939985 47 O00443,P06280,Q14108,Q8IZA0,O75844,Q14739,P05067,Q9NWM8,P00403,Q9Y4P3,P04062,Q9NZ08,P51798 13 |
| Abnormal larynx morphology 0.5074274079748682 1.9876734337728743 0.0468478189062193 1.0 0.6029429173939985 27 Q9UHX1,P07602,P16435,Q14739,Q13510,Q9NZJ7 6 |
| Thin ribs 0.6285423899867187 1.9876231024865605 0.0468533892830587 1.0 0.6029429173939985 12 O75844,Q9Y619,O95831 3 |
| Abnormality of the vasculature of the eye 0.4011596812295164 1.9807799360249296 0.047615957813252 1.0 0.60766403779959 68 Q9NZJ7,P21912,Q9NW15,P02786,P06865,P16278,P06280,P07602,P04439,P17900,O75306,Q14739,Q13510,Q9Y4P3,Q9NZ08,P10619,P38435 17 |
| Ectopic calcification 0.4293536232003808 1.972465127589789 0.0485565334409985 1.0 0.6162533045803863 56 P23786,Q14739,P56377,Q15125,O60313,Q9BUR4,P18074,P05067,O75381,P38571,O00584,O75844,Q16625,P00403,O75845,P10644,P53634,Q9UBM7,P04062,P38435 20 |
| Abnormal circulating acetylcarnitine concentration 0.7589588736873708 1.9705533406384277 0.0487749880856847 1.0 0.6173251926119488 6 P23786 1 |
| Neuronal loss in central nervous system 0.6060297559926086 1.965172719994557 0.0493942502223696 1.0 0.6200834903231799 14 Q9BTW9,P07602,P35637,O43819,Q08AM6,P42858,P04062,Q9NZJ7 8 |
| Abnormal macular morphology 0.5027152892990829 1.965151464510472 0.0493967095612344 1.0 0.6200834903231799 29 P51648,Q9NW15,P50897,Q13510,Q9UM00,P04062 6 |
| Scrotal hypoplasia 0.5667998019233565 1.9620017401598695 0.0497622816567167 1.0 0.622975085849168 18 Q9BV10,P16435,Q9UBM7,P46977,P07437,Q9H2M9,P18074 7 |
| Abnormality of fundus pigmentation 0.8605402440530499 1.9589787766442437 0.0501152723278481 1.0 0.6240116367464451 4 Q9Y619 1 |
| Hypoketotic hypoglycemia 0.7215271275951548 1.9540616051964963 0.0506939320483803 1.0 0.6240116367464451 8 P31751,P23786,O43772 3 |
| Abnormal tissue metabolite concentration 0.6040510126463934 1.9532226371607235 0.0507932198350156 1.0 0.6240116367464451 14 O75381,P07602,P06865,P17900,Q9NZJ7 5 |
| Hyperintensity of cerebral white matter on mri 0.5492897077805317 1.9440723090499212 0.05188673196783 1.0 0.6335252515147018 20 Q15043,P10253,P07602,O75503,P17900,Q9NZJ7 6 |
| Incoordination 0.3989962454846719 1.9427300445194065 0.0520487841188948 1.0 0.6335252515147018 69 O14773,Q15067,Q96RR1,O00165,Q9Y5P6,Q9NR77,Q9NZJ7,P07602,P12235,P42858,P21912,Q9UBB4,O75503,Q9Y619,Q6DKK2,Q01105,Q13510,Q10713,P04062 19 |
| Bifid scrotum 0.8040978176823632 1.942324138455494 0.0520978726133718 1.0 0.6335252515147018 5 Q96EK5,P16435 2 |
| Epispadias 0.7523616483009176 1.9400803721754023 0.0523699229847376 1.0 0.6349164083965428 6 O75419,Q9Y619,P53701 3 |
| Absent epiphyses 0.7477554130126391 1.933657661171352 0.0531552326868831 1.0 0.6382504988693801 7 Q7LGA3,Q8WVQ1 2 |
| Fluctuations in consciousness 0.7470025939183758 1.9301497851865108 0.0535882813255494 1.0 0.6386967338176768 7 P00403,O75306,Q9UJS0,P04062 4 |
| Patellar aplasia 0.8012210822498801 1.929634110281863 0.0536521892744608 1.0 0.6386967338176768 5 Q9H1A4,Q9Y619 2 |
| Microcytic anemia 0.6847254354892294 1.924506536271344 0.054291122230375 1.0 0.6416844804608616 9 O75027,Q9BQT8,Q9UBX3 3 |
| Ragged red muscle fibers 0.5674785328067987 1.922435443042691 0.0545509894176876 1.0 0.6416844804608616 17 Q96RR1,O95831,Q9H2D1,Q70HW3,P12235,P00403 6 |
| Congenital hypothyroidism 0.7991289510151454 1.9203957987837228 0.0548079238200491 1.0 0.6416844804608616 5 Q13423,P10644 2 |
| Abnormal oral mucosa morphology 0.4156119190107427 1.9186083390008664 0.0550339194547724 1.0 0.6416844804608616 58 O75845,P10644,P16278,Q14108,Q14739,Q9UM00,Q9BUR4,Q9Y4P3,P04062,Q15392 10 |
| Sensory ataxia 0.7976884443014841 1.914030323200032 0.0556162813359979 1.0 0.6416844804608616 5 Q9NR77,P54802 2 |
| Coxa valga 0.4995616246897769 1.9130686655582816 0.0557392625266026 1.0 0.6416844804608616 25 Q96L58,Q9Y619,P16278,O75844,Q8WVQ1,Q96A33 6 |
| Thickened ribs 0.8489205611726613 1.9100509870895033 0.0561266487797316 1.0 0.6416844804608616 4 P16278,P54802 2 |
| Peroneal muscle atrophy 0.848911221759096 1.9100115787147296 0.0561317225148094 1.0 0.6416844804608616 4 Q9NR77 1 |
| Periventricular white matter hyperintensities 0.6799679995758819 1.9001059596768857 0.0574192157705986 1.0 0.6497110493258815 9 O75503,P07602,Q9NZJ7 3 |
| Hypokinesia 0.5949902665495461 1.8983202524758045 0.0576539076704349 1.0 0.6497110493258815 14 O95831,Q2TAA5,P13473,P12235,P42858,P04062 6 |
| Unilateral renal agenesis 0.5172105635440836 1.8981219989586324 0.0576800128444292 1.0 0.6497110493258815 23 P10644,Q7LGA3,Q9UHX1,P16435,Q86XL3,Q9UBM7 6 |
| High frequency sensorineural hearing impairment 0.8453119306793998 1.8948143834803213 0.0581169969576746 1.0 0.6510142887863207 4 O75844,Q13510 2 |
| Undetectable electroretinogram 0.8447661047612229 1.8925080717435416 0.0584233192145235 1.0 0.6510142887863207 4 O14773,P50897 2 |
| Hypopigmented skin patches 0.4956481741625034 1.8920687464406505 0.0584818218090448 1.0 0.6510142887863207 27 P21912,P21964,Q15125,P07602,P53701,P53634,Q8IZA0,O15360,Q15437,Q9BUR4,P18074,P42345,Q9NZJ7 13 |
| Mucosal telangiectasiae 0.6779618486386665 1.8897987528805265 0.0587848804287192 1.0 0.6510142887863207 9 P21912,P06280,Q8IZA0,Q14739,P18074,P10619 6 |
| Caesarian section 0.84308365249415 1.8853963265070877 0.0593763496207797 1.0 0.6527472871343918 4 P33991 1 |
| Hepatic failure 0.4517322426257995 1.8846020043875489 0.0594835915023577 1.0 0.6527472871343918 48 O75845,O75381,P23786,O43772,Q9Y5L0,P22830,Q9Y619,P38571,P28288,Q6PGP7,Q13510,Q10713,Q9BUR4,P04062 14 |
| Ascending tubular aorta aneurysm 0.7904694334838781 1.88207443440098 0.0598259099856988 1.0 0.6527472871343918 5 O75844,Q96L58 2 |
| Falls 0.7365231490383342 1.881191655743084 0.0599458524028231 1.0 0.6527472871343918 7 Q9BQT8,Q96RL7,P21912 3 |
| Cytochrome c oxidase negative muscle fibers 0.6762417166058892 1.8809526942008188 0.0599783541880416 1.0 0.6527472871343918 9 Q96RR1,Q9Y2R0,P12235 3 |
| Abnormal pharynx morphology 0.4759693315867593 1.8779249832076244 0.0603914281268755 1.0 0.6546430808953314 39 P54802,Q9BV10,P16278,Q03518,Q13510,Q13432 6 |
| Pulmonary infiltrates 0.7350794799002596 1.874428570317232 0.060871378695045 1.0 0.6582968113804514 7 P04062,Q13510 2 |
| Oligosacchariduria 0.7882158301500868 1.8720797051804907 0.0611955772855912 1.0 0.6590563116709304 5 P16278,P10253 2 |
| Corneal erosion 0.7881634731140278 1.8718473959069464 0.061227718991786 1.0 0.6590563116709304 5 P51648 1 |
| Anotia 0.7869617536446908 1.866514023844983 0.0619694838676854 1.0 0.6603485156930488 5 Q9Y619,O15111 2 |
| Abnormal chorioretinal morphology 0.4919974235714116 1.862264834029104 0.0625657697085573 1.0 0.6603485156930488 27 O75381,Q96AX1,P41227,Q9NX14,P53701,Q9Y619,P04439,O43505,P52732,Q96RT7,Q10713,Q5XKP0 12 |
| Abnormal choroid morphology 0.4919974235714116 1.862264834029104 0.0625657697085573 1.0 0.6603485156930488 27 O75381,Q96AX1,P41227,Q9NX14,P53701,Q9Y619,P04439,O43505,P52732,Q96RT7,Q10713,Q5XKP0 12 |
| Abnormality of glycolipid metabolism 0.7024424022640773 1.860738412360594 0.0627811265191133 1.0 0.6603485156930488 8 P07602,P06865,P17900,Q9NZJ7 4 |
| Microdontia 0.4907342780433253 1.8585125551934667 0.0630962621274759 1.0 0.662151434217043 28 Q96L58,Q7LGA3,Q9Y487,Q9Y619,Q9UM00,Q9Y4P3,Q96A33,Q96HA7 8 |
| Thoracic kyphosis 0.5681312340789554 1.8558789258632584 0.0634708174415548 1.0 0.6633653434946402 16 O95831,P51648,Q9UHX1,P04062,Q96HA7 5 |
| Aplasia hypoplasia involving the pelvis 0.5778804303732804 1.852964740197257 0.063887412656522 1.0 0.6633653434946402 15 O95831,Q96L58,Q8WVQ1,O95202,Q96HA7 5 |
| Goiter 0.6707490780482617 1.8526545455402488 0.0639318889758238 1.0 0.6633653434946402 9 P12235,P48735,P21912,O75874 4 |
| Abnormality of endocrine pancreas physiology 0.7318773651747845 1.8448721142824092 0.065056143998855 1.0 0.6724405529116048 6 Q14739 1 |
| Malrotation of small bowel 0.8331708521903725 1.843410707313622 0.0652690679398497 1.0 0.6724405529116048 4 Q8NCH0 1 |
| Abnormal delivery 0.5271250071597394 1.8431103856233424 0.0653128952935591 1.0 0.6724405529116048 21 Q9Y487,Q9Y619,Q9UBM7,O75844,P33991 5 |
| Skin nodule 0.5347850036748882 1.8419296597250825 0.0654854394987864 1.0 0.6724405529116048 20 Q92990,P21912,P06280,P16615,P48735,Q13510,O75874,P52732,P11802,Q9NZ08 10 |
| Polyneuropathy 0.5552144025445777 1.841581999144967 0.0655363160966595 1.0 0.6724405529116048 17 O95831,P07602,Q8N2K0,O95721,P04066,O60313,Q9HC21,Q9NZJ7 8 |
| Limb girdle muscle weakness 0.4900652188835424 1.836627155455652 0.0662649556438201 1.0 0.6769016644148105 25 Q96RR1,Q9Y5L0,P07602,Q13126,O60313,P12235,Q9NZJ7 7 |
| Aortic valve stenosis 0.619741983408314 1.8343932845521045 0.0665956357451806 1.0 0.678774543977981 11 O75844,P04062,P16278 3 |
| Abnormal placenta morphology 0.6364111426722041 1.8315604003389512 0.067016941156065 1.0 0.679775128724597 10 P16278 1 |
| Abnormal metatarsal morphology 0.4889529624582703 1.8276389394071737 0.0676037576918653 1.0 0.679775128724597 25 P10644,Q96L58,P16435,O43505,Q8WVQ1,O95202,Q15392 7 |
| Occipital encephalocele 0.8278457196613371 1.8207978310380983 0.0686375941391956 1.0 0.679775128724597 4 O43505,Q9Y5P6,Q10713 3 |
| Exaggerated startle response 0.6642218489577909 1.8189254531925445 0.0689228040003124 1.0 0.679775128724597 9 P16278,P17900 2 |
| Horizontal nystagmus 0.4972959529161443 1.816589336188794 0.0692800174953196 1.0 0.679775128724597 24 O95831,Q9NW15,P07602,Q9H061,P04062,Q9NZJ7 6 |
| Abnormality of extrapyramidal motor function 0.3933486554801966 1.816131297466204 0.0693502337614087 1.0 0.679775128724597 74 Q15043,P16278,Q99720,Q96RL7,P35610,Q96RR1,Q9BPX6,P06865,P05067,Q9NZJ7,P07602,P12235,P42858,Q96IX5,Q6DKK2,P17900,O14949,Q9Y4P3,P04062 19 |
| Hypoplastic labia minora 0.7253351619252892 1.814280657054552 0.0696345279654115 1.0 0.679775128724597 6 O75419,Q9Y619,Q15042,Q9H2M9 4 |
| Clitoral hypoplasia 0.7253351619252892 1.814280657054552 0.0696345279654115 1.0 0.679775128724597 6 O75419,Q9Y619,Q15042,Q9H2M9 4 |
| Urticaria 0.6154351400759933 1.8101422577087485 0.0702737292823658 1.0 0.6830191367170032 11 P51648,P21912,Q9Y5L0 3 |
| Abnormal femoral neck head morphology 0.4333579241491052 1.8026406670161448 0.07144466593502 1.0 0.6864786011034875 51 O95831,Q96L58,Q7LGA3,Q9Y487,O00443,Q9Y619,P16278,O75844,Q14739,Q8WVQ1,Q96A33,Q96HA7 12 |
| Hypocholesterolemia 0.6308915100232515 1.8014958069195048 0.0716247676054104 1.0 0.6864786011034875 10 Q15800,P07602,Q9BV10,Q9NVI7,Q9NZJ7 5 |
| Talipes calcaneovalgus 0.8222016367390961 1.7967871422423676 0.0723694183653294 1.0 0.6864786011034875 4 Q9UBM7,Q9NR77 2 |
| Abnormal femoral head morphology 0.5194670025713872 1.7874608492196078 0.0738630344357578 1.0 0.6902373217962195 21 O95831,Q96L58,Q7LGA3,P16278,Q8WVQ1,Q96HA7 6 |
| Abnormal macrophage morphology 0.7684378552975332 1.7839891449087952 0.0744254290545833 1.0 0.6940849223774608 5 P61916,P16278,Q13510 3 |
| Abnormal protein o linked glycosylation 0.8184197404135598 1.7806739230102364 0.0749657355884432 1.0 0.6965030753452327 4 Q8N511,Q15904 2 |
| Abnormal femoral neck morphology 0.4579143420035887 1.7764833428480586 0.0756532850151765 1.0 0.6981576036780744 42 O95831,Q96L58,Q9Y487,O00443,Q9Y619,P16278,O75844,Q8WVQ1,Q96A33,Q96HA7 10 |
| Abnormal arterial physiology 0.481457069300607 1.7757666193601311 0.0757713917601556 1.0 0.6981576036780744 27 O00443,P06280,O75844,Q14739,Q9NWM8,Q9Y4P3,Q9NZ08 7 |
| Fair hair 0.7659260106204371 1.7727544125814405 0.0762694104013015 1.0 0.7006537242400764 5 P10644 1 |
| Osteopenia 0.3833155354414703 1.7716168408267368 0.0764581822327838 1.0 0.7006537242400764 67 Q9NZJ7,P10644,Q96L58,Q9Y487,P07602,Q13126,O15228,Q14108,Q9H490,Q9H1A4,Q32P28,O75844,Q9NWM8,Q9Y4P3,P04062,P18074,Q07864,Q96HA7 18 |
| Submucous cleft of soft and hard palate 0.4913973588120641 1.7701098285614425 0.076708846562393 1.0 0.7006537242400764 24 Q7LGA3,P62266,Q9Y619,O75844,O43505,Q15392 6 |
| Abnormality of the metacarpal bones 0.4697832436727409 1.7691455427345797 0.0768695893361155 1.0 0.7006537242400764 36 P10644,Q96L58,P16278,P16435,Q9H1A4,Q32P28,Q9UBM7,Q14739,Q8WVQ1,O95202,P51798 11 |
| Abnormal echocardiogram 0.8156367614956506 1.768804352261404 0.0769265302065695 1.0 0.7006537242400764 4 P12235,P49748 2 |
| Skin ulcer 0.4790230435969158 1.7686350086143037 0.0769548045290815 1.0 0.7006537242400764 29 Q8IZA0,Q03518,Q14739,O15269,O75874,Q9BUR4,P04062 7 |
| Chorioretinal dysplasia 0.7150761372213676 1.7661348760166822 0.0773732235955995 1.0 0.7016998987440913 6 O43505,P53701,P52732,Q96RT7 4 |
| Decerebrate rigidity 0.7641006773258388 1.7645837667464004 0.0776337456983311 1.0 0.7016998987440913 5 P07602,P16278 2 |
| Flat face 0.5078583382519987 1.7614567964916692 0.0781611192344202 1.0 0.7016998987440913 22 O75381,Q96L58,Q9Y487,Q15125,Q9UM00,Q03164 6 |
| Abnormality of the calf 0.3929080407617868 1.7605074737605395 0.078321801434529 1.0 0.7016998987440913 60 O95831,Q96L58,Q7LGA3,Q9BV10,Q13126,Q9Y619,P16278,P16435,Q8WVQ1,Q9Y4P3,P51798,Q9NR77 12 |
| Joint subluxation 0.7137311140147014 1.7598071287662 0.0784405139685711 1.0 0.7016998987440913 6 P16278,Q9UHX1 2 |
| Temperature instability 0.6815689131703301 1.7576976852976671 0.0787989619158129 1.0 0.7027169057175582 8 P07602,Q2TAA5,Q9NZJ7 3 |
| Arteriosclerosis 0.5624274211408032 1.7557862824004584 0.0791249075230884 1.0 0.7027169057175582 15 O75845,P61916,P16278,O75844,Q13510,P18074,P38435 7 |
| Blue sclerae 0.5069081002543501 1.7543390221325337 0.0793724331079717 1.0 0.7027169057175582 22 Q96EK5,Q8NCH0,Q96L58,Q8WVQ1 4 |
| Abnormal vertebral morphology 0.4165606965912894 1.75371707719439 0.0794789978861723 1.0 0.7027169057175582 107 P16278,Q14108,Q14739,O75874,O95202,Q96L58,Q9UHX1,P54802,Q15125,P16435,P15586,Q8WVQ1,P48735,P51798,O95831,Q9BV10,Q8NCH0,Q9UM00,O75845,P10644,Q9Y619,Q9Y4P3,P04062,P10619 24 |
| Aplasia hypoplasia involving the vertebral column 0.5799315919491662 1.752883953422596 0.0796219285401704 1.0 0.7027169057175582 13 P16278,O95831,P10644,Q14739 4 |
| Abnormal auditory evoked potentials 0.6497580534263916 1.7438033115625335 0.0811933928475592 1.0 0.7097874019899532 9 P07196,P07602,Q15125,O60313,Q9NZJ7 5 |
| Raynaud phenomenon 0.7089674630097491 1.7373677556331837 0.0823222789300104 1.0 0.715582526472751 6 O75844 1 |
| Oval face 0.7058159169942536 1.736400137635162 0.0824931079517181 1.0 0.7157170401762063 7 Q9UHX1 1 |
| Prominent nasolabial fold 0.7563513618078747 1.7298361526140702 0.0836595532100459 1.0 0.7207361002556388 5 Q9Y487 1 |
| Abnormality of the nasolabial region 0.7563513618078747 1.7298361526140702 0.0836595532100459 1.0 0.7207361002556388 5 Q9Y487 1 |
| Respiratory distress 0.4154003329935194 1.7296245520162572 0.083697376521981 1.0 0.7207361002556388 54 O75419,P23786,Q13724,P49748,P04350,O43819,Q96L58,Q9UHX1,Q9NZJ7,O95831,Q8TCJ2,P07602,P53701,O75306,Q16134,P10253,Q9Y619,Q13510,P04062 19 |
| Resting tremor 0.5188253734440585 1.7284236389102825 0.0839123004352304 1.0 0.7212387464647513 20 Q96RR1,Q9BPX6,P04062,P07602,P12235,Q96RL7,Q9NZJ7 7 |
| Limb ataxia 0.4753368940552394 1.7170253993670948 0.0859745312826723 1.0 0.7321343172260097 25 P07196,Q8IV08,Q9UBB4,O14773,Q9NW15,Q14108,P04062,Q9NR77 8 |
| External ophthalmoplegia 0.5360534151976273 1.714040816329724 0.0865212299545559 1.0 0.733152239343964 17 Q96RR1,P21912,P12235,Q9GZY8,P00403 5 |
| Generalized hyperkeratosis 0.752823597624106 1.7139863316817951 0.0865312361690988 1.0 0.733152239343964 5 P04066,O75844,P21912 3 |
| Abnormal cerebral artery morphology 0.54581047324013 1.7114559794015252 0.0869969708408611 1.0 0.7343873162096665 16 P10644,P38435,P10253,Q96HA7 4 |
| Broad palm 0.7004068139734649 1.7106970323344928 0.0871370558328039 1.0 0.7343873162096665 7 O95831,P10644,Q14739 3 |
| Ascites 0.4925064421913515 1.70892053887261 0.0874656694332263 1.0 0.7353181370052437 23 P10644,Q9Y5L0,Q14108,Q14739,Q13510,P04062 6 |
| Aplastic clavicle 0.8009074758818224 1.7058141952970256 0.0880426793012005 1.0 0.7388208079064318 4 Q9Y619 1 |
| Abnormal circulating long chain fatty acid concentration 0.8005775930976453 1.7044002870029438 0.0883063303497468 1.0 0.7396859344023343 4 P23786 1 |
| Abnormality of the nasal bone 0.7498837759014816 1.7007633339457382 0.0889874369447498 1.0 0.7440383339463932 5 P10644 1 |
| Vertebral segmentation defect 0.4704773945896003 1.6969235437952497 0.0897111162074506 1.0 0.7473763333955247 29 Q9UHX1,Q15125,Q9Y619,Q9UM00,Q9Y4P3,O95202 6 |
| Abnormal thoracic spine morphology 0.470922278241676 1.694121656676572 0.0902421678420222 1.0 0.7483534945880982 28 O75845,O95831,P51648,Q9UHX1,O75844,P04062,Q96HA7 7 |
| Calcinosis 0.7481953508953735 1.693163004221501 0.0904244444127277 1.0 0.7483534945880982 5 O75844,Q14739 2 |
| Increased circulating lactate dehydrogenase concentration 0.5523614399764536 1.692028177291528 0.090640601254647 1.0 0.7483534945880982 15 P23786,P10253,P38571,Q5JRX3,P41440,Q96RL7,Q9UJS0 7 |
| Abnormal corneal epithelium morphology 0.5266189866488505 1.6899966090662355 0.0910286033766782 1.0 0.7487583624911331 18 O75844,Q96EK5,P51648,Q14739 4 |
| Psoriasiform dermatitis 0.7970378743231585 1.6892203134922894 0.091177217572721 1.0 0.7487583624911331 4 P10321,Q15800 2 |
| Neonatal hypoglycemia 0.6100938180678944 1.6874628895507922 0.0915143799176325 1.0 0.7501899435596676 10 P31751,O43772 2 |
| Abnormality of lower limb epiphysis morphology 0.525451677063939 1.681995414179391 0.092569729160993 1.0 0.7561502522069059 18 O95831,Q96L58,Q7LGA3,Q8WVQ1,Q96HA7 5 |
| Abnormal sclera morphology 0.4692052163693168 1.6797673289336958 0.093002594114506 1.0 0.7583415063460698 28 P10644,Q96L58,Q8NCH0,Q8WVQ1,Q96EK5 5 |
| Respiratory failure 0.3738019891231988 1.6759118549065988 0.0937554592931499 1.0 0.7617837759498095 65 O75419,Q9BTW9,P23786,O43819,Q92804,P33991,Q5XKP0,Q15165,Q70HW3,Q9Y5P6,Q9BT22,Q9NZJ7,P07602,P61916,P53701,O75306,P10253,Q9Y619,Q8NBU5,Q13510,Q9UHD9 21 |
| Schizophrenia 0.5113768681475923 1.6750653389371324 0.0939214126471372 1.0 0.7617886409601433 20 P21964,Q9BQE5,P07602,P16615,O76024,P04062,Q9NZJ7 7 |
| Abnormal heart rate variability 0.7933265128375404 1.673287982653763 0.0942706170540992 1.0 0.7623638484164832 4 P07602 1 |
| Parkinsonism with favorable response to dopaminergic medication 0.5907731694734344 1.6702322856778196 0.094873414579043 1.0 0.7623638484164832 11 P07602,P04062 2 |
| Hyperlipidemia 0.4663357485478946 1.669402422984582 0.0950376537881994 1.0 0.7623638484164832 30 P23786,P22830,P50402,P06280,O95470,O75844,P31751,P28070,Q9UJS0,Q9BTV4 10 |
| Abnormal retinal vascular morphology 0.4331167305528059 1.6672763974986704 0.0954594576130363 1.0 0.7623638484164832 47 P38435,P07602,P06865,P16278,P17900,P04439,O75306,Q13510,Q9Y4P3,P10619,Q9NZJ7 11 |
| Abnormally lax or hyperextensible skin 0.4439165616172547 1.6671019099708857 0.0954941424313111 1.0 0.7623638484164832 43 Q96L58,Q9UHX1,Q15904,Q9Y487,Q9BV10,P07437,Q8NCH0,Q9Y4P3,P04062,P38435 10 |
| Cardiovascular calcification 0.635033536359805 1.6668067160117208 0.0955528443810735 1.0 0.7623638484164832 9 O75844 1 |
| Brittle hair 0.5482732983549303 1.6660348607001756 0.0957064712420716 1.0 0.7623638484164832 15 P62266,Q9Y487,Q9NVI7,O75844,P18074 5 |
| Abnormal glycosylation 0.4866724114267597 1.6637846786570676 0.0961554668701021 1.0 0.7623638484164832 23 Q2TAA5,Q15904,Q9Y487,Q10471,Q8N511,P46977,Q9BT22 7 |
| Open mouth 0.4684336763014675 1.663751888134473 0.0961620222477344 1.0 0.7623638484164832 26 P10644,P62266,P04350,Q86XL3,Q10713,P04062,P42345 7 |
| Short nose 0.3992916424466269 1.661973522945074 0.0965180833955254 1.0 0.7623638484164832 95 P42345,Q96L58,Q9UHX1,P16435,Q8WVQ1,Q03164,Q15392,Q96HA7,Q9Y487,O75844,Q8NCH0,Q9UM00,P42892,O75845,P10644,Q9H490,Q9NVI7,Q9Y4P3,P04062,P38435 20 |
| Tapered finger 0.4540321724094735 1.6601197611889806 0.0968903622420442 1.0 0.7623638484164832 38 Q06136,P23786,Q8NCH0,Q96EK5,P42892,Q03164 6 |
| Abnormality of hepatobiliary system physiology 0.3852335678870513 1.6591098089084118 0.0970936670695945 1.0 0.7623638484164832 79 P23786,P22830,Q9Y5L0,P28288,O43819,Q96A33,Q5XKP0,O43772,Q8N511,Q9BUR4,Q9BT22,O75381,Q8TCJ2,P38571,Q6PGP7,O75306,Q16625,Q9UID3,O75845,Q9Y619,Q13510,Q10713,P04062 23 |
| Supernumerary tooth 0.6615041865743845 1.6577426225556433 0.0973694268641054 1.0 0.7623638484164832 8 Q9UBM7,Q9UHX1 2 |
| Micromelia 0.4938174199256141 1.655844507314479 0.0977533119089497 1.0 0.7623638484164832 22 P10644,Q9UHX1,Q9UBM7,Q14739,O75874,P48735,Q07864,Q15392 8 |
| Shoulder girdle muscle weakness 0.5638164158347583 1.6556221691010908 0.0977983578064123 1.0 0.7623638484164832 13 P07602,P12235,Q9Y5L0,Q9NZJ7 4 |
| Infectious encephalitis 0.6323547822095568 1.6527448930633204 0.0983827936280197 1.0 0.7656242064937278 9 Q14739 1 |
| Abnormality of the metaphysis 0.4188804702832489 1.6509547858668907 0.0987478076303531 1.0 0.7671688865987135 51 O95831,Q96L58,Q13126,P16278,Q9HC07,Q14739,O75874,Q8WVQ1,Q9BUR4,P48735,P51798,Q96HA7 12 |
| Orthostatic hypotension due to autonomic dysfunction 0.603272066088913 1.649810787113977 0.0989816417917701 1.0 0.7676909490482914 10 P07602,P04062 2 |
| Cardiomegaly 0.4590325544230098 1.6464547793964248 0.0996701629057918 1.0 0.7695883627330798 34 P10644,P23786,P54802,P10253,P49748,P13473,Q14739,Q9Y4P3,P04062 9 |
| Abnormal visual fixation 0.686788573199274 1.6457370395598965 0.0998179097018505 1.0 0.7695883627330798 7 P04062,Q13510 2 |
| Upper airway obstruction 0.786831154330079 1.6453654316155333 0.0998944738255658 1.0 0.7695883627330798 4 O75844,P16435 2 |
| Genu valgum 0.4610868929818409 1.6422501162435144 0.1005381804086569 1.0 0.7731896146549729 32 Q96L58,Q7LGA3,Q9Y619,P16278,Q9Y4P3,P51798,Q9NR77 7 |
| Toe walking 0.4837974214991189 1.6414811162109797 0.100697583849139 1.0 0.7731896146549729 23 P07602,O95831,Q99720,Q9NZJ7 4 |
| Acetabular dysplasia 0.6849115564444738 1.6367564369289984 0.1016813714245681 1.0 0.7752950729004825 7 P16278 1 |
| Aplasia hypoplasia of the skin 0.4140907701129884 1.6365691301017822 0.1017205301854933 1.0 0.7752950729004825 52 P10644,Q96L58,Q6ZXV5,Q15125,Q13126,P53701,Q9Y619,P53634,Q9H1A4,O75844,Q8NCH0,Q06787,Q9NWM8,Q9BUR4,O15111,O95202,Q15392 17 |
| Abnormality of the distal phalanges of the toes 0.6845743747402655 1.6351425093164351 0.10201917665501 1.0 0.7752950729004825 7 O75844,Q7LGA3 2 |
| Enlarged ovaries 0.784258388209477 1.6342922013267227 0.1021975104249584 1.0 0.7752950729004825 4 P10644,P21912,P16435 3 |
| Thin skin 0.4907632635587414 1.632750564809254 0.1025214679990158 1.0 0.7752950729004825 22 P10644,Q96L58,Q6ZXV5,Q13126,Q9Y619,O75844,Q06787,O15111,P18074 9 |
| Beaking of vertebral bodies 0.6863755191485756 1.630363433492677 0.103024708183099 1.0 0.7752950729004825 6 P16278,Q96L58,Q9UM00 3 |
| Hypoglycemic seizures 0.6832244650709915 1.6286790783771077 0.1033809740004083 1.0 0.7752950729004825 7 Q13423,P53985 2 |
| Abnormality of the temporomandibular joint 0.7338666051905048 1.6284931705435246 0.1034203561752944 1.0 0.7752950729004825 5 O75844 1 |
| Progressive psychomotor deterioration 0.6272638926004165 1.625976340708703 0.103954688509368 1.0 0.7752950729004825 9 P21912,P07602,P16278,O43681,Q10713,Q9NZJ7 6 |
| Cortical dysplasia 0.463200011335944 1.624426399117075 0.1042848366918973 1.0 0.7752950729004825 27 Q13885,P55011,O95721,P07437,O43505,Q9BVA1,Q13509,Q6P1N0,Q9NZ01,P42345,Q9NUQ7 11 |
| Metatarsus adductus 0.5500444770549001 1.6217474750039484 0.1048574290668464 1.0 0.7752950729004825 14 Q96L58,Q9UBM7,Q08AM6,Q9H2M9,O95202,Q15392 6 |
| Abnormal morphology of the conjunctival vasculature 0.6817722476155099 1.6217221338351513 0.1048628573725378 1.0 0.7752950729004825 7 Q9NW15,P06280,P04066,P10619 4 |
| Symptomatic seizures 0.6537553232004781 1.6189164051395069 0.1054652506288555 1.0 0.7752950729004825 8 Q13423,P53985 2 |
| Ankylosis 0.7317434986557773 1.6188859714068022 0.1054717998081313 1.0 0.7752950729004825 5 O75844 1 |
| Corneal dystrophy 0.7315260358438634 1.617901585704395 0.1056838085047759 1.0 0.7752950729004825 5 P06280 1 |
| Wide intermamillary distance 0.4805987670742218 1.6166205505819766 0.105960213121842 1.0 0.7760869663788968 23 Q9UBM7,Q96EK5,P23786,Q9UM00 4 |
| Short nail 0.730893115839762 1.615036186362379 0.1063028587092884 1.0 0.7763466064227269 5 O75844,Q9Y487 2 |
| Abnormalities of placenta or umbilical cord 0.5308937424775366 1.6139281577800413 0.106543010227706 1.0 0.7763466064227269 16 O75844,P16278 2 |
| Abnormal csf protein level 0.5569087986802227 1.6136895611088995 0.106594779340416 1.0 0.7763466064227269 13 P07602,Q9NZJ7,Q9NR77,P00403 4 |
| Abnormality of the alveolar ridges 0.682637298250425 1.6125687378232227 0.1068382349624503 1.0 0.7763466064227269 6 Q9UBM7,P53634,Q15392 3 |
| Abnormality of the shoulder girdle musculature 0.4573084920482895 1.6095087169744384 0.1075051504866293 1.0 0.7765486048840798 32 Q96RR1,Q9Y5L0,Q9Y487,P07602,P50402,Q9BTV4,O60313,P12235,Q9Y5P6,Q9NZJ7 10 |
| Infantile muscular hypotonia 0.365969188859767 1.6008191725227114 0.1094169758598255 1.0 0.7864025082468274 63 Q15043,Q2TAA5,P10253,Q9Y487,P07602,Q13724,P16278,P49748,P17900,O75306,Q9BVA1,Q9Y5P6,Q13510,Q9GZY8,Q9NZJ7 15 |
| Disproportionate short trunk short stature 0.7760386147036138 1.598865727393111 0.1098504407445384 1.0 0.7882881316356519 4 P16278 1 |
| Nephropathy 0.4927538468870786 1.5912362303295335 0.1115564220782812 1.0 0.7939361592731816 21 P06280,O76024,Q14108,Q10713,P61619,P00403 6 |
| Abnormal tongue morphology 0.3734847267740117 1.5907248731666184 0.1116715066657307 1.0 0.7939361592731816 72 Q7LGA3,P16278,P04066,Q96RL7,Q96A33,Q9NRZ9,Q96AX1,P11274,Q15042,O60826,Q15437,Q08AM6,Q9Y5P6,Q9H2M9,Q01433,Q8NCM8,Q9Y4R8,O75844,O15111,P07196,P21912,P07686,P10253,O00443,O75648,Q9UBM7,Q10713,Q9Y4P3 28 |
| Butterfly vertebrae 0.7251900289788613 1.5891923268589248 0.1120169782886479 1.0 0.7951652064342084 5 Q9BV10 1 |
| Iron deficiency anemia 0.6773823180671974 1.5875134304865397 0.1123964076061874 1.0 0.7954074498336489 6 Q10471 1 |
| Gray matter heterotopia 0.457838378709645 1.5843363886711053 0.1131171892007809 1.0 0.7992805071288311 28 Q2TAA5,Q6ZXV5,Q86XL3,Q9UBM7,O43505,Q15058,Q9BVA1,Q06787,Q9Y5P6 9 |
| Abnormal sweat gland morphology 0.7713407491315734 1.5785866321500237 0.1144309028459797 1.0 0.8032269597044137 4 O75844 1 |
| Breast aplasia 0.7215043540766308 1.572467630398789 0.1158421404599909 1.0 0.8061981152747433 5 Q9Y619 1 |
| Aplasia hypoplasia of toe 0.4477282990099657 1.572008275481193 0.115948632018819 1.0 0.8061981152747433 36 P10644,Q7LGA3,Q9UHX1,P13073,Q13510,P42858,O95202,Q03164 8 |
| Macroglossia 0.4504776031130733 1.5709749185786754 0.1161884748175408 1.0 0.8061981152747433 34 Q7LGA3,Q01433,P21912,P10253,O00443,O75648,P16278,P04066,Q15437,Q9Y5P6,Q10713,Q9Y4P3,Q96A33,Q9NRZ9 14 |
| Vitritis 0.7692066478519985 1.5693671608213098 0.1165624113367291 1.0 0.8061981152747433 4 Q9NX14,P53701,P04439 3 |
| Confusion 0.5090023152821042 1.5686991745178187 0.1167180510496304 1.0 0.8061981152747433 18 Q9Y619,P11166,P08397,Q9NZ08,P18074,P05067,O96008,Q16836,Q9UJS0 9 |
| Personality changes 0.5325617340101931 1.5656317750782958 0.1174348467039021 1.0 0.8061981152747433 15 P49770,P04062,P42858,P00403,Q96RL7,Q9NR50 6 |
| Abnormal social behavior 0.3677964351440246 1.5651629394187327 0.117544708867141 1.0 0.8061981152747433 68 Q06787,O75746,O96008,Q15067,Q5XKP0,O43676,Q96RR1,Q5KU26,Q9UHX1,Q15125,Q15907,Q13509,Q9GZY8,P05067,P18074,Q9NZJ7,Q2TAA5,Q9NPL8,P07602,Q9P0J0,Q9NX14,O75306,Q9Y4P3,Q10471,O43681,Q9Y6M9,Q96CU9 27 |
| Abnormality of hair pigmentation 0.4816244355665321 1.5634014497741702 0.1179581993761025 1.0 0.8061981152747433 22 P10644,Q13126,Q13724,P37268,Q9UBM7,Q9UM00,Q9BUR4 7 |
| Flared iliac wing 0.6719123129200867 1.5613840124884837 0.1184331717694577 1.0 0.8061981152747433 6 O95831,P16278 2 |
| Exercise intolerance 0.4505033303180972 1.5601755733643323 0.1187183963236677 1.0 0.8061981152747433 33 Q96RR1,P23786,Q9Y2R0,P13473,Q9H2D1,P12235,Q9Y5P6,P00403 8 |
| Barrel shaped chest 0.7666566201628177 1.5583450779580637 0.1191514684937198 1.0 0.8061981152747433 4 P04066,Q14739 2 |
| Abnormal heart valve morphology 0.3744576781475409 1.5575194709628222 0.1193472014122873 1.0 0.8061981152747433 76 P10644,Q96L58,Q9UHX1,P21964,Q6ZXV5,P06280,P16278,P53701,P37268,O95155,O75844,Q8NCH0,Q06787,Q9Y4P3,P04062,O95202,P51798 17 |
| Abnormal liver physiology 0.671100051734023 1.5574998101305946 0.119351865624518 1.0 0.8061981152747433 6 O75845,Q13510 2 |
| Abnormal conjunctiva morphology 0.4556019654066914 1.5573883620558182 0.1193783075646985 1.0 0.8061981152747433 26 P21912,Q9NW15,P02786,P06280,P04066,Q14739,Q13510,P50851,P18074,Q9NZ08,P28070,P10619 12 |
| Hypoplasia of the musculature 0.7171704885786856 1.5527794531945571 0.1204758330229047 1.0 0.8061981152747433 5 Q9NR77 1 |
| Progressive spastic quadriplegia 0.6404844720369912 1.5521504236906356 0.1206262352380449 1.0 0.8061981152747433 8 P07602,Q9NZJ7,P17900,P43034 4 |
| Abnormal pericardium morphology 0.5540097802665674 1.550994407783096 0.1209030241195789 1.0 0.8061981152747433 12 Q9NZ08,P04062,P49748,Q14108 4 |
| Areflexia of lower limbs 0.5004339150323533 1.5501564899249096 0.1211039601602015 1.0 0.8062513648237695 19 Q96RR1,P07196,O60313,P12235,Q96RL7,Q9NR77,Q15067 7 |
| Atrioventricular canal defect 0.6396022180640013 1.5477001495265874 0.1216945060863392 1.0 0.8082083599512483 8 Q9UBM7,Q9UHX1 2 |
| Muscle hypertrophy of the lower extremities 0.6392549301641755 1.5459479713716098 0.1221171336983579 1.0 0.8082083599512483 8 Q9NR77,Q9Y5P6,P53007 3 |
| Abnormality of fontanelles 0.4288620725036903 1.545294416009982 0.1222750655276796 1.0 0.8082083599512483 44 O75419,O75381,Q9Y487,Q15125,Q9Y619,P16435,O15228,Q32P28,O75844,Q8NCH0,O15111,P42345,Q9BT22 13 |
| Subcutaneous hemorrhage 0.4395495471928404 1.5441741635255222 0.1225461460964105 1.0 0.8086625795737948 39 P10644,Q96L58,Q13126,Q14108,Q8NCH0,Q16625,P04062,P51798,P38435 9 |
| Recurrent aspiration pneumonia 0.6645771049743853 1.5390697960175594 0.123787257814619 1.0 0.8119000005003606 7 P04062,Q13510 2 |
| Elbow flexion contracture 0.4703238110515696 1.5364450302073211 0.1244292698589859 1.0 0.8119000005003606 23 Q96L58,Q7LGA3,P23786,O00443,P50402,P37268,P16435,Q9BTV4 8 |
| Slurred speech 0.5672163375601551 1.5350476274361506 0.1247721294452475 1.0 0.8119000005003606 11 Q9NW15,P16278,Q9Y487 3 |
| Ulnar deviation of the wrist 0.7125544548998513 1.5317840223328405 0.1255757401262882 1.0 0.814059845904828 5 Q9BV10,P16278 2 |
| Aplasia hypoplasia of the nasal bone 0.7604626464809034 1.531547425936546 0.1256341546425727 1.0 0.814059845904828 4 P10644 1 |
| Abnormal circulating igm level 0.5353418452918854 1.5298751368529069 0.1260476387030791 1.0 0.8155919543610751 14 Q9Y5L0,Q15904,Q9BV10,Q13724,Q7Z5L9,P50851 6 |
| Abnormal pulmonary thoracic imaging finding 0.5032503796518791 1.5288535780379964 0.1263007466400951 1.0 0.8157131253421034 18 P04062,Q9NZ08,Q13510 3 |
| Photophobia 0.4412485307707652 1.5276852613797467 0.126590701209031 1.0 0.8157131253421034 37 P48449,P51648,P07602,P04439,Q6P4Q7,Q13432,Q9NZ08,Q9NZJ7 8 |
| Retinopathy 0.4520331826370387 1.5276577153487203 0.1265975438722821 1.0 0.8157131253421034 26 P51648,O95202,O43819,P07437,O75306,P52732,P18074,Q9NZ08 8 |
| Hyperextensible skin 0.5261284930698131 1.524301964131166 0.1274332967506124 1.0 0.8174112365184025 15 Q8NCH0,Q96L58,Q9UHX1,P04062 4 |
| Abnormality of metacarpal epiphyses 0.7105430363073324 1.5226274201135628 0.1278519456612323 1.0 0.8174112365184025 5 O95202 1 |
| Abnormality of lipoprotein cholesterol concentration 0.5257381179190774 1.52179016740459 0.1280616659798921 1.0 0.8174112365184025 15 Q15800,P50402,Q10471,P38571,Q8N511,Q9UJS0,Q9BTV4 7 |
| Abnormality of the achilles tendon 0.5489884782309761 1.5209957142009027 0.1282609128333622 1.0 0.8174112365184025 12 O60313,Q8N2K0,P50402 3 |
| Young adult onset 0.5489381782379753 1.5206948885043274 0.1283364220295655 1.0 0.8174112365184025 12 P07602,Q9NZJ7,P38435 3 |
| Cavum septum pellucidum 0.5646454417826015 1.5202110494974963 0.1284579412284183 1.0 0.8174112365184025 11 Q9BV10,O95202,Q9BVA1 3 |
| Bulbous nose 0.4348751834512633 1.518436269315386 0.1289044542132336 1.0 0.8179759039786165 40 Q02252,O75845,P23786,P16435,Q06787,Q96EK5,P42892,Q96A33,Q96HA7 9 |
| Acanthocytosis 0.7568587570687162 1.5159398746146515 0.1295345564033982 1.0 0.8192479333445618 4 O75845 1 |
| Infantile axial hypotonia 0.5638136594822082 1.5154075787851726 0.1296692193069537 1.0 0.8192479333445618 11 Q15043,P07602,P17900,Q9NZJ7 4 |
| Hypoplasia of the odontoid process 0.7087325928799401 1.5143817177044852 0.1299290534260995 1.0 0.8192479333445618 5 P16278 1 |
| Achilles tendon contracture 0.5635935018022673 1.5141359220307518 0.1299913694974765 1.0 0.8192479333445618 11 O60313,Q8N2K0,P50402 3 |
| Duplication involving bones of the feet 0.4889815544260855 1.5132712388557108 0.1302107752114352 1.0 0.8193435682527168 20 O75845,P21964,Q15125,Q9UBM7,Q14739,Q10713,O95202 7 |
| Temporal pattern 0.6326681138099497 1.5126749755390716 0.1303622390990322 1.0 0.8193435682527168 8 P04062,Q9NR77 2 |
| Hypotension 0.4499359316401731 1.5101573939170994 0.1310032673894243 1.0 0.8208640089863634 26 P35610,Q13423,O43772,Q9Y5L0,P07602,P49366,O43681,Q06787,P04062,Q9NZJ7 10 |
| Asymmetric growth 0.5395502684506664 1.5077211335746052 0.1316259143043263 1.0 0.8208640089863634 13 Q15125,P07437,Q96HA7,P31751 4 |
| Abnormality of skull ossification 0.5394520865494552 1.507119487775903 0.131780032462321 1.0 0.8208640089863634 13 O75844,Q14739,Q9HC21,P54802 4 |
| Premature skin wrinkling 0.5000796009381172 1.5068410962662964 0.1318513928044082 1.0 0.8208640089863634 18 Q9Y487 1 |
| Abnormal hdl cholesterol concentration 0.753534002456922 1.5015315286379836 0.1332181382208341 1.0 0.8271374161501118 4 Q10471,Q9UJS0 2 |
| Cutis laxa 0.4455035661275516 1.498381157551565 0.1340342490605441 1.0 0.8302607654549461 31 Q15904,Q9Y487,Q9BV10,Q8NCH0,Q9Y4P3,P38435 6 |
| Hypolipoproteinemia 0.6552941162056211 1.4942483688558477 0.1351107145744059 1.0 0.8307921265696956 7 Q10471,Q15800,P38571,Q9UJS0 4 |
| Flattened epiphysis 0.7040479619233525 1.4930283875380477 0.1354297562521904 1.0 0.8307921265696956 5 O95831,Q8WVQ1 2 |
| Alopecia totalis 0.6559718340075227 1.4849710708138415 0.1375514876053079 1.0 0.8360154398385929 6 P47985,O75844 2 |
| Abnormality of upper limb joint 0.4002021398162355 1.4821453399595956 0.1383016268824235 1.0 0.8394671871506262 114 Q7LGA3,P23786,P50402,P16278,O95202,Q96L58,Q15125,P16435,Q8IZA0,Q8WVQ1,Q03164,Q9NR77,Q15392,O95831,Q9BV10,O75844,P42892,P10644,Q9Y619,Q13510,Q9Y4P3 21 |
| Central apnea 0.6256995662907238 1.4773931501022803 0.1395702812580128 1.0 0.8460000288715029 8 P07602,O76024,Q9NZJ7 3 |
| Overlapping toe 0.4699150835549218 1.4740386623226638 0.1404711817823176 1.0 0.8460000288715029 22 Q9UHX1,Q15125,Q15907,Q9UM00,Q96A33 5 |
| Coxa vara 0.5263901632122503 1.4736448257422678 0.1405772454937066 1.0 0.8460000288715029 14 O95831,Q9Y487,Q8WVQ1,Q96HY6,Q96HA7 5 |
| Equinovarus deformity 0.6989794623610017 1.4698987539496315 0.1415891771117547 1.0 0.8460000288715029 5 Q9NR77 1 |
| Bone fracture 0.6526951153090035 1.469217445805691 0.141773819857971 1.0 0.8460000288715029 6 Q9H1A4,Q13126,Q13724,P51798 4 |
| Recurrent fractures 0.4440966072097772 1.468084034942811 0.1420813976503814 1.0 0.8460000288715029 28 Q96L58,Q13126,Q13724,P16435,Q32P28,Q96AY3,O75874,P40818,Q9BUR4,P48735,P51798 11 |
| Mania 0.5330818116509848 1.4680322932926484 0.1420954511905099 1.0 0.8460000288715029 13 Q96RR1,P21964,P16615,P12235,P00403,Q9UJS0 6 |
| Abnormal protein glycosylation 0.4887868627183002 1.467432966574974 0.142258312017848 1.0 0.8460000288715029 19 Q2TAA5,Q15904,Q9Y487,Q8N511,Q9BT22 5 |
| Abnormality of the pharynx 0.4103747887733532 1.465779172978502 0.1427084567571015 1.0 0.8463840172185934 48 P54802,Q9BV10,P16278,Q03518,Q13510,Q9BUR4,Q13432 7 |
| Decreased circulating total igm 0.596243996846592 1.461701323920589 0.1438230743044726 1.0 0.84839040117888 9 Q13724,Q7Z5L9,Q15904 3 |
| Decreased specific antibody response to vaccination 0.6966858083742875 1.4594232371752938 0.1444486541844742 1.0 0.8488200890661646 5 Q9BV10,Q7Z5L9,P50851 3 |
| Metaphyseal striations 0.7436223424675842 1.4585271069148409 0.144695309083854 1.0 0.8491863553494468 4 Q13126,Q96HA7 2 |
| Increased circulating antibody level 0.5382464896021383 1.4566148565350798 0.1452227243777171 1.0 0.8495969444527531 12 P04062,Q9Y5L0,Q14108 3 |
| Shawl scrotum 0.7429485412525738 1.4556010848643088 0.1455029279733497 1.0 0.8495969444527531 4 Q9UM00 1 |
| Abnormal peripheral nervous system physiology 0.4003196720100048 1.4541995798216705 0.1458909814741793 1.0 0.8507844957614483 51 O95831,P07196,Q9UBB4,Q15125,P07602,Q8N2K0,Q96RL7,Q9Y619,O95721,O60313,O15269,Q15120,Q9GZY8,Q99720,Q9NR77,Q9NZJ7 16 |
| Cns demyelination 0.5148385047496534 1.4514896339674184 0.1466435666608094 1.0 0.8537463956371231 15 P07602,P51648,Q9NR50,Q9NZJ7 4 |
| Left ventricular hypertrophy 0.4667448760453682 1.4497534176038136 0.1471272937591969 1.0 0.8537463956371231 22 Q96RR1,P21912,P10253,P06280,P12235,P00403 6 |
| Action tremor 0.3863842844284019 1.4492102499284187 0.1472788759413628 1.0 0.8537463956371231 55 O14773,Q9NW15,O75027,P07602,Q8N2K0,Q14108,O75306,Q99720,Q9NR77,Q9NZJ7 10 |
| Poor wound healing 0.648503401931146 1.4490434176661997 0.1473254578970073 1.0 0.8537463956371231 6 P04062,O15269 2 |
| Emg abnormality 0.3646829461570096 1.4453484234679506 0.1483600427498634 1.0 0.8575843374512183 75 Q9Y5L0,O14773,P50402,Q96RL7,Q96RR1,Q9NW15,O60313,O15269,Q9Y5P6,Q9NR77,Q9NZJ7,P07602,P13473,P12235,P42167,Q9BTV4,P07196,Q15120,Q13510 19 |
| Abnormal circulating copper concentration 0.6926231423424178 1.4408557907397033 0.1496254279674371 1.0 0.8605797086716392 5 Q15904,Q9Y487 2 |
| Postaxial foot polydactyly 0.6175870716561236 1.4362218064094043 0.1509392358630679 1.0 0.8636239651666767 8 O75845,Q14739,Q9UBM7 3 |
| Toxemia of pregnancy 0.6452117636195196 1.4331851494364771 0.1518049324871477 1.0 0.8639803007317475 6 Q14739 1 |
| Depletion of mitochondrial dna in muscle tissue 0.6899753493628205 1.4287464277808162 0.1530771282859164 1.0 0.8639803007317475 5 P12235,Q9UBX3 2 |
| Heterogeneous 0.4252893703475547 1.428259231502927 0.1532172575858124 1.0 0.8639803007317475 40 P07196,P21964,Q9BQE5,Q9Y619,P61916,P53634,O75844,P12235,P05067,P51798,Q9NR77 11 |
| Adrenal hyperplasia 0.7359426923161649 1.425160547209278 0.15411079784052 1.0 0.8658395678674096 4 P10644,P16435 2 |
| Focal segmental glomerulosclerosis 0.4767145557547668 1.4238683307304738 0.1544845908707433 1.0 0.8658932341826833 20 Q14C86,Q8N1F7,O95470,Q14108,Q12769,P61619,P00403,P52565,O43707,Q92621 10 |
| Progressive hearing impairment 0.5184861520069836 1.423828051852109 0.1544962532012515 1.0 0.8658932341826833 14 O60313,Q96RR1,P00403,O60443 4 |
| Abnormal odontoid tissue morphology 0.4246374035175552 1.422109293028612 0.1549945254177716 1.0 0.8662826995378989 40 P51648,Q96L58,P21964,O00443,P16278,P53701,Q9H1A4,Q9UBM7,Q9HC07,Q6P4Q7,Q9Y4P3,P18074 12 |
| Increased intracranial pressure 0.4823400980065558 1.4214556276696555 0.1551843445190728 1.0 0.8662826995378989 19 P07602,P10644,Q9NZ08,Q9NZJ7 4 |
| Ectrodactyly 0.5017056938369084 1.421026899783328 0.1553089394235385 1.0 0.8662826995378989 16 P48449,Q9UBM7,Q99720,O95202,Q9NR77 5 |
| Abnormal heart sound 0.6425496153306053 1.4203496128297368 0.1555059241410554 1.0 0.8662826995378989 6 P10253 1 |
| Limb joint contracture 0.3848049514291549 1.418873634146518 0.1559358602963205 1.0 0.8674881966507851 101 O75419,Q7LGA3,P23786,P50402,Q9HC21,Q99720,Q96L58,P16435,Q8IZA0,O95155,O60313,Q9Y5P6,Q8WVQ1,P18074,Q9NR77,Q15392,Q8N2K0,P37268,O75844,P42892,Q9BTV4,P07196,P21912,O00443,Q9Y619,Q86XL3 26 |
| Recurrent sinusitis 0.6874159434403593 1.4170353977849153 0.1564725784894745 1.0 0.8674881966507851 5 Q13432,Q7Z5L9 2 |
| Abnormal circulating iga level 0.5093135481060826 1.4157374135222571 0.1568523999364126 1.0 0.8681182366616448 15 Q9Y5L0,Q15904,Q9BV10,Q13724,Q7Z5L9,P42345 6 |
| Juvenile onset 0.4154667952472465 1.4139975210483848 0.1573626303384518 1.0 0.8683180926714139 44 P07196,P54802,Q9Y5L0,O14773,P50402,P16278,O75027,P06280,Q13510,Q9NR50,P51798,Q9NR77 12 |
| Abnormal pupillary light reflex 0.6859802768176149 1.4104638004338466 0.1584027780771459 1.0 0.8711086664102207 5 P07602,Q9NR77 2 |
| Slow pupillary light response 0.6859802768176149 1.4104638004338466 0.1584027780771459 1.0 0.8711086664102207 5 P07602,Q9NR77 2 |
| Neoplasm of the adrenal cortex 0.6366161391969131 1.4036878381825404 0.1604118255741089 1.0 0.8742177758268325 7 P10644,O75874 2 |
| Muscle abnormality related to mitochondrial dysfunction 0.4303984911886978 1.4031608868627294 0.1605688681354433 1.0 0.8742177758268325 35 Q96RR1,O43676,Q9NPL8,O75648,Q9Y2R0,O60313,P12235,O75306,Q9UBX3,P00403,Q96CU9 11 |
| Hypopigmentation of the skin 0.4093564116775663 1.4011894638654874 0.1611574241400615 1.0 0.8742177758268325 46 P21912,P21964,Q15125,P07602,Q9NX14,P53701,P53634,Q8IZA0,Q6PGP7,Q9H1A4,O15360,Q15437,Q9BUR4,P18074,P42345,P51798,Q9NZJ7 17 |
| Abnormality of the nasal tip 0.3767321170674421 1.40050633567405 0.1613617474879496 1.0 0.8742177758268325 93 O75845,O95831,Q7LGA3,P23786,Q9UHX1,P10644,Q9Y487,P16278,P16435,O75844,Q96EK5,P42892,Q03164,Q96A33 14 |
| Thoracic hypoplasia 0.4339093684216382 1.397529296722129 0.1622544630593281 1.0 0.8742177758268325 31 Q9UHX1,O00443,P16435,Q14739,Q9UM00,Q8WVQ1,P04062,P51798,Q96A33 9 |
| Delayed cranial suture closure 0.4346021071588262 1.3970577833429745 0.1623961955645538 1.0 0.8742177758268325 30 O75381,Q9Y487,P16435,O75844,Q8NCH0 5 |
| Laryngomalacia 0.5277004731596456 1.393160349472784 0.1635713069594659 1.0 0.8742177758268325 12 P07602,P16435,Q9NZJ7 3 |
| Calvarial skull defect 0.6089997479957091 1.3925354932043843 0.1637603014094355 1.0 0.8742177758268325 8 Q14739 1 |
| Abnormal labia minora morphology 0.6087899481824987 1.3914669170114162 0.1640838849741555 1.0 0.8742177758268325 8 O75419,Q9Y619,Q15042,P16435,Q9H2M9 5 |
| Deep plantar creases 0.681829447399607 1.3914544709314534 0.1640876567009295 1.0 0.8742177758268325 5 Q9Y487 1 |
| Progressive sensorineural hearing impairment 0.5421198598124237 1.38960606644023 0.1646485326043194 1.0 0.8742177758268325 11 P00403,O60313,O60443 3 |
| Saccadic smooth pursuit 0.6813640728719053 1.3893223845101337 0.1647347400783516 1.0 0.8742177758268325 5 Q9NW15,O14773,Q10713 3 |
| Abnormality of limb epiphysis morphology 0.4320915941539557 1.3891227736218972 0.1647954197579619 1.0 0.8742177758268325 32 O95831,Q96L58,Q7LGA3,P10644,P16435,Q8WVQ1,O95202,Q96HA7 8 |
| Visual loss 0.391093479025718 1.3890348320523986 0.1648221584404265 1.0 0.8742177758268325 52 P48449,P07602,O75503,P04439,O75306,P50897,P00403,P51798,Q9NZJ7 9 |
| Hydrocephalus 0.3580739896148623 1.3842105557112248 0.1662939921383861 1.0 0.876857933543678 73 P23786,O43505,O15360,O95202,Q9NRZ9,P56377,Q96L58,P21964,Q15125,P16435,Q08AM6,Q13509,Q9Y5P6,P18074,P51798,Q15392,P53701,P10644,Q9H490,Q9UBM7,Q10713,P04062 22 |
| Abnormal endocardium morphology 0.5121156766296743 1.3835726799083965 0.1664893385116355 1.0 0.876857933543678 14 Q9Y4P3,P10644,Q9NZ08,P04062 4 |
| Abnormality of bone mineral density 0.4057863013201526 1.3834066980524793 0.1665401979272234 1.0 0.876857933543678 132 Q15043,Q9Y5L0,P16278,Q14108,Q9HC07,Q14739,Q9HC21,Q9NWM8,O95202,Q96RR1,Q96L58,P54802,Q15125,P06280,Q8WVQ1,Q9BUR4,P51798,Q15392,Q9NZJ7,Q96HA7,O95831,Q9Y487,P07602,Q13126,O75844,P12235,O75845,P10644,Q9H490,Q13510,Q9Y4P3,P04062 32 |
| Vertebral hypoplasia 0.5813300157544107 1.382095147783053 0.1669424881533197 1.0 0.8774223246595907 9 P16278,Q14739 2 |
| Hypomimic face 0.5189009588820218 1.3806863996059762 0.1673754048222553 1.0 0.8774223246595907 13 Q15043,P12235,P04062 3 |
| Neurofibrillary tangles 0.7256193164001308 1.380255472566735 0.1675079995670492 1.0 0.8774223246595907 4 P61916,P05067,O96008 3 |
| Corneal ulceration 0.6791425193365588 1.3791422527590622 0.1678508986006464 1.0 0.8777401700944131 5 O75844 1 |
| Gingival overgrowth 0.4338269403201449 1.3773572925983897 0.1684018099599729 1.0 0.8796226059927382 27 O75845,P10644,P16278,Q14739,Q9UM00,Q9Y4P3 6 |
| Portal fibrosis 0.7246649869985535 1.3761017670219469 0.1687901285678368 1.0 0.879783720947403 4 P28288 1 |
| Progressive neurologic deterioration 0.4570601353572984 1.3753460353027718 0.1690241907900407 1.0 0.879783720947403 22 P21912,Q9NPL8,P54802,P07602,P16278,Q5XKP0,Q10713,P04062,Q9NZJ7 9 |
| Multifocal cerebral white matter abnormalities 0.677813748511751 1.373051545478533 0.1697363229296002 1.0 0.879783720947403 5 P10253 1 |
| Abnormality of the autonomic nervous system 0.3760662790727775 1.3729479635313415 0.1697685242527897 1.0 0.879783720947403 56 Q9Y5L0,O15360,Q06787,P41440,Q96RL7,Q15067,Q96RR1,P21964,P41227,P06280,O15269,Q96EK5,Q9NZJ7,P07602,O76024,P42892,Q9UBM7,O43681,Q10713,P04062 20 |
| Papule 0.4938098664044588 1.3684435700226003 0.1711732740455924 1.0 0.879783720947403 16 Q9NZ08,O75844,P16615,P38435 4 |
| Abnormal metabolic brain imaging by mrs 0.4850788221067795 1.3683699164803262 0.1711963159013558 1.0 0.879783720947403 17 P35610,P07602,O75306,P00403,Q9NZJ7 5 |
| Abnormal pleura morphology 0.462838613806717 1.3680778192778 0.1712877187830528 1.0 0.879783720947403 21 Q96L58,Q8NCH0,Q14739,P52732,Q9NZ08 5 |
| Supranuclear gaze palsy 0.4628096111516148 1.367860012196793 0.1713558986212371 1.0 0.879783720947403 21 Q96RR1,Q99720,P04062,P07602,Q96RL7,Q9NZJ7 6 |
| Coarse hair 0.4687261457638824 1.3653934734124489 0.1721294141031573 1.0 0.879783720947403 20 Q9UM00,Q96A33,P54802,Q9Y487 4 |
| Specific learning disability 0.3517519079757772 1.3649053844362953 0.1722827897149204 1.0 0.879783720947403 62 O75419,P62266,P04350,O43505,Q9BVA1,Q06787,P42345,Q96RR1,P21964,Q9BPX6,Q96EK5,P53701,P42858,P00403,O75845,P10644,O00443,Q9Y619,Q10713 19 |
| Biliary cirrhosis 0.6284504288196684 1.36395763215064 0.1725809004987537 1.0 0.879783720947403 7 P09601,Q14739,Q9UJW0 3 |
| Abnormality of the tongue 0.3721478506598461 1.363878813170186 0.1726057099833906 1.0 0.879783720947403 91 Q9BTW9,Q7LGA3,P16278,P04350,P04066,Q96RL7,Q12756,Q96A33,Q9NRZ9,Q96AX1,P11274,Q15042,O60826,Q15437,Q08AM6,Q9Y5P6,Q9H2M9,O75381,O95831,Q01433,Q9Y4R8,Q8NCM8,O75844,O15111,P07196,P07686,P21912,O75648,P10253,O00443,Q9BQT8,Q9UBM7,Q13510,Q10713,Q9Y4P3 35 |
| Chronic pulmonary obstruction 0.6306034579463053 1.3626496763256102 0.1729929448697986 1.0 0.879783720947403 6 P09601,P06280 2 |
| Abnormal sternal ossification 0.6754680065386256 1.3622963726711768 0.173104371926696 1.0 0.879783720947403 5 O95202 1 |
| Macrovesicular hepatic steatosis 0.6279374230595501 1.361459127654884 0.1733686415621409 1.0 0.879783720947403 7 P23786,O75648,Q5XKP0 3 |
| Decreased absent ankle reflexes 0.5224300934963737 1.3613668394814136 0.173397790019588 1.0 0.879783720947403 12 Q96RR1,P07196,O60313,P12235,Q96RL7 5 |
| Abnormal corpus striatum morphology 0.4924966170662743 1.3596839084718872 0.1739299724271661 1.0 0.8814495515002845 16 O95831,O75306,Q9BVA1,P42858,Q96RL7 5 |
| Cupped ear 0.5219578729527705 1.3585157265685537 0.1743000958143605 1.0 0.8814495515002845 12 Q15392 1 |
| Abnormality of carpal bone ossification 0.6271931971400344 1.3578340115485634 0.1745163600314687 1.0 0.881575516080018 7 Q15125,Q96L58,Q8WVQ1 3 |
| Tetraplegia 0.5148056886803714 1.3553851120953972 0.1752948904825402 1.0 0.8834922054130301 13 Q13423,O95831,P51572,P43034,O43681 5 |
| Peripheral axonal neuropathy 0.3551527762534679 1.3548319576385943 0.1754711022255095 1.0 0.8834922054130301 61 Q96RR1,O95831,Q8IV08,Q9BPX6,P07602,O76024,Q9NVI7,O60313,P12235,O15269,Q9HC21,P00403,Q96RL7,Q15067,Q9NZJ7 15 |
| Abnormality of the elbow 0.3669287875693366 1.3529570183443738 0.176069362073828 1.0 0.885536627810181 58 P10644,Q96L58,Q7LGA3,P23786,Q9Y619,P50402,P16435,Q13510,Q8WVQ1,Q03164,Q96HA7 11 |
| Microcornea 0.4305361257456732 1.349444408758239 0.1771942648613065 1.0 0.8882850687878554 27 O75845,Q96L58,Q15125,P41227,Q15042,Q13045,P07437,O43505,Q8NCH0,Q9NWM8,Q9H2M9,P52732,P18074 13 |
| Decreased circulating level of specific antibody 0.6247711730494976 1.3460323948899993 0.1782920694287471 1.0 0.8904525262382383 7 Q9BV10,Q7Z5L9,P50851 3 |
| Bowing of the legs 0.3931308936982257 1.3456985405098705 0.1783997572645743 1.0 0.8904525262382383 50 Q96L58,Q7LGA3,Q13126,Q9Y619,P16278,P16435,Q9H1A4,Q32P28,Q8WVQ1,Q9Y4P3,P51798,Q9NR77,Q96HA7 13 |
| Abnormality of corneal size 0.4196125717815614 1.3431633373299778 0.179219090311187 1.0 0.8925388708786994 38 O75845,Q96L58,Q9Y4P3,Q15125,P07437,O43505,Q8NCH0,Q9Y5P6,Q9NWM8,Q9H2M9,Q96EK5,O95202,P18074 13 |
| Tissue ischemia 0.4654124201130494 1.341084845121654 0.1798929071109016 1.0 0.8925388708786994 20 O00443,P06280,O75844,Q9Y4P3,Q9NZ08 5 |
| Dilated cardiomyopathy 0.414230308586876 1.3410292685900318 0.1799109500180469 1.0 0.8925388708786994 41 Q96RR1,P23786,P16278,P49748,O43819,P53701,P13473,P42167,P12235,O75306,P00403,Q96RL7,Q9BTV4 13 |
| Sparse and thin eyebrow 0.5190585706552759 1.3410023238366393 0.1799196981095585 1.0 0.8925388708786994 12 P48449,Q96EK5,Q9UM00 3 |
| Abnormal ldl cholesterol concentration 0.5122717910387953 1.3397149140840978 0.1803380469469155 1.0 0.8925388708786994 13 Q15800,P50402,P38571,Q8N511,Q9UJS0,Q9BTV4 6 |
| Abnormal tongue physiology 0.4807189674114597 1.3384552757920989 0.1807480703107105 1.0 0.8930058440433628 17 O95831,Q9BQT8,Q13510,P10253 4 |
| Abnormality of the upper respiratory tract 0.3742885338227693 1.3381434629501758 0.1808496749495241 1.0 0.8930058440433628 96 P10644,Q9UHX1,P54802,Q96HA7,P07602,Q9BV10,P16278,P16435,Q03518,Q15165,Q9UBM7,Q14739,Q13510,P15586,Q9BUR4,Q13432,Q9UHD9,Q9NZJ7 18 |
| Intellectual disability progressive 0.4969009701487802 1.335162438729067 0.1818231873881362 1.0 0.895112437346866 15 O95831,Q9NX14,P53701,O95721,Q9H2M9,P18074,Q15067,Q96HA7 8 |
| Renal agenesis 0.3822704188456682 1.3276127742401178 0.1843060622977943 1.0 0.9042577518700092 53 P10644,Q7LGA3,Q9UHX1,O00443,P16435,Q86XL3,Q9UBM7,O75306,Q15392 9 |
| Furrowed tongue 0.6229367082513447 1.3255414689775118 0.1849916247521394 1.0 0.9066484290315668 6 Q15437,P21912,Q9H2M9 3 |
| Adult onset 0.347025954340335 1.3243593603001091 0.1853837247987271 1.0 0.9066484290315668 66 Q8IV08,Q9Y5L0,O14979,Q14203,Q06787,P41440,P42345,Q96RR1,Q9Y4G8,P31751,Q9NZJ7,P07602,O76024,P12235,Q07864,Q9BTV4,P21912,Q14566,P04062,Q9UHD9,P38435 21 |
| Skeletal dysplasia 0.4122576012230558 1.3221498031816292 0.1861182724223236 1.0 0.9089933167623224 41 O75381,P51648,Q96L58,O95831,O00443,P16278,P10619,Q9HC07,Q14739,Q8WVQ1,Q07864,Q96HA7 12 |
| Gingival bleeding 0.5092551998665126 1.3210452944732762 0.1864862619763736 1.0 0.9089933167623224 13 P04062,Q14108 2 |
| Restrictive ventilatory defect 0.5303413346653807 1.320937440980802 0.1865222243532758 1.0 0.9089933167623224 11 P16278 1 |
| Metaphyseal widening 0.449950436981046 1.3205340104432115 0.1866567885719015 1.0 0.9089933167623224 22 O95831,Q96L58,P16278,Q14739,Q8WVQ1 5 |
| Recurrent sinopulmonary infections 0.6194237301860708 1.3199559595676564 0.1868497223733274 1.0 0.9089933167623224 7 Q9Y487 1 |
| Abnormal pupillary function 0.6189745578823493 1.3177643968992077 0.1875825297106657 1.0 0.9090333141491784 7 P07602,Q9NR77 2 |
| Retinal detachment 0.4776129456468395 1.317118514670136 0.1877989018612766 1.0 0.9090333141491784 17 Q9BV10,P04439,Q8NCH0,O43505,Q9Y5P6,Q96RT7 6 |
| Short palpebral fissure 0.4262530253837975 1.3130572323738 0.1891636635841684 1.0 0.9090333141491784 27 O75844,Q03164,Q9UHX1 3 |
| Hallucinations 0.3979483698641153 1.311067086679671 0.1898350993404041 1.0 0.9090333141491784 47 Q9BQE5,P07602,O75503,Q6DKK2,O60313,P50897,P42858,P04062,P05067,Q9UJS0,Q9NZJ7 11 |
| Conical tooth 0.6175004938371773 1.3105710285901235 0.1900027325622899 1.0 0.9090333141491784 7 Q12959,Q9Y487 2 |
| Redundant skin 0.4260710754456439 1.3096865694400923 0.1903018888876293 1.0 0.9090333141491784 26 Q9BV10,Q9Y4P3,Q8NCH0,Q9Y487 4 |
| Abnormal caudate nucleus morphology 0.5424625873496114 1.3096103346027144 0.1903276905172943 1.0 0.9090333141491784 10 O75306,Q96RL7,Q9BVA1,P42858 4 |
| Cognitive impairment 0.4203425873505149 1.2953350903351069 0.195204659146122 1.0 0.9205914169848628 164 Q9BQE5,P16278,P04350,O43819,Q14108,P50897,Q9BVA1,Q06787,P61619,Q99720,Q96RL7,Q9NZ08,P42345,Q9UJS0,Q5XKP0,Q96RR1,P21964,P54802,P06865,P06280,O95470,Q9Y2R0,O60313,Q9Y5P6,P18074,Q03164,P05067,Q9NZJ7,O75381,O95831,Q9NPL8,Q9Y487,P07602,P61916,P13473,O76024,Q6PGP7,O75306,P12235,P42858,P00403,Q9NR50,Q8WVX9,P10644,P07196,P21912,Q9UBB4,O75503,Q9Y619,Q6DKK2,P17900,Q13510,Q10713,P04062,Q9UHD9 55 |
| Ketotic hypoglycemia 0.9473519272955188 1.2933213271795998 0.1958999473717819 1.0 0.9205914169848628 2 Q13423 1 |
| Radioulnar synostosis 0.4461559295442249 1.2912231458118115 0.1966263113501485 1.0 0.9205914169848628 22 Q96L58,O95202,P16435,Q9Y4P3 4 |
| Abnormal metacarpal morphology 0.4236835249153422 1.2911989461638234 0.1966347004544075 1.0 0.9205914169848628 27 P10644,Q96L58,P16278,P16435,Q9H1A4,Q32P28,Q14739,Q8WVQ1 8 |
| Recurrent fever 0.504353254917598 1.2906765616782754 0.1968158553408949 1.0 0.9205914169848628 13 Q13510,Q9NR77 2 |
| Hypoplastic labia majora 0.5106748075991117 1.2902851697017572 0.1969516641083486 1.0 0.9205914169848628 12 O75419,Q9Y619,P16435,Q9H2M9 4 |
| Diminished movement 0.4458082133512561 1.2885353729969478 0.197559663693374 1.0 0.9205914169848628 22 O95831,Q2TAA5,P13473,P12235,P42858,P04062 6 |
| Bradykinesia 0.4232977043257625 1.2879150685291123 0.1977755295073135 1.0 0.9205914169848628 27 Q15043,Q96IX5,Q96RR1,P04062,Q6DKK2,P12235,P42858,Q96RL7 8 |
| Steroid resistant nephrotic syndrome 0.6592623639886546 1.2879083273341831 0.197777876389164 1.0 0.9205914169848628 5 Q12769,Q8N1F7 2 |
| Cirrhosis 0.4149607630575167 1.2865270831543367 0.1982591730992451 1.0 0.9205914169848628 37 Q9Y5L0,P22830,P11717,Q15904,P38571,Q14108,Q14739,Q10713,Q9BUR4,P04062,Q9UJS0 11 |
| Postnatal growth retardation 0.3449485816354424 1.2860497008243528 0.1984257167497218 1.0 0.9205914169848628 67 P10644,Q96L58,Q9Y487,P17900,Q9UM00,P33991,O95202,Q03164 8 |
| Orthostatic hypotension 0.4885031154265455 1.2804794445597674 0.2003765694567147 1.0 0.9257008111112084 15 P07602,P04062,Q9NZJ7 3 |
| Abnormal sensory nerve conduction velocity 0.6135497750636537 1.2800392815927784 0.2005313211219013 1.0 0.9257008111112084 6 Q9NR77 1 |
| Inflammation of the large intestine 0.50245562856187 1.27891093218948 0.2009284224749135 1.0 0.9257008111112084 13 Q6PGP7,P08183,P49748,P50851 4 |
| Emg neuropathic changes 0.4302554557686117 1.278379825197398 0.2011155340589951 1.0 0.9257008111112084 24 O14773,P07602,Q13510,Q9NR77,Q9NZJ7 5 |
| Limb undergrowth 0.3836049404415033 1.2752356790107422 0.2022258362912232 1.0 0.9257008111112084 51 P10644,Q9UHX1,Q15125,Q9BV10,Q9UBM7,O15111,Q14739,O75874,P48735,P42345,Q03164,Q15392,Q96HA7 13 |
| Aplasia hypoplasia involving bones of the lower limbs 0.3683934926457307 1.2741000584637547 0.2026279577225871 1.0 0.9257008111112084 95 O75419,P55011,Q7LGA3,P13073,Q06787,O95202,Q96A33,Q96L58,Q9UHX1,O95155,Q08AM6,Q13509,Q9H2M9,Q8WVQ1,Q96HY6,Q03164,Q96HA7,O95831,Q9BV10,Q96AY3,P42858,O15111,P10644,O75648,O00443,Q9Y619,Q10471,Q9UBM7,Q9H1A4,Q13510 30 |
| Macular purpura 0.4712441762990439 1.273309655929197 0.2029081816389957 1.0 0.9257008111112084 17 P10644,Q8NCH0,P04062,P51798,P38435 5 |
| Hyperkeratosis 0.3601833006371477 1.2731634897014117 0.2029600333266674 1.0 0.9257008111112084 58 P51648,Q06136,P21912,P04062,P06280,P16615,P53634,O95721,P04066,O75844,O15269,Q9NWM8,Q9BUR4,P42167 14 |
| Generalized osteosclerosis 0.9413976809777532 1.2708376129497747 0.2037864246594101 1.0 0.9257008111112084 2 Q15392 1 |
| Opsoclonus 0.9413976809777518 1.2708376129497678 0.2037864246594125 1.0 0.9257008111112084 2 P04062 1 |
| Saccadic oscillation 0.9413976809777518 1.2708376129497678 0.2037864246594125 1.0 0.9257008111112084 2 P04062 1 |
| Diffuse cerebral atrophy 0.4869501289072449 1.2703545866497643 0.203958352100289 1.0 0.9257008111112084 15 P07602,P16278,Q06787,Q10713,Q9NZJ7 5 |
| Gastrointestinal hemorrhage 0.4209296632349841 1.270266055920669 0.2039898749983566 1.0 0.9257008111112084 28 P21912,Q9UHX1,O76024,Q14739,Q9NZ08,Q9UJS0 6 |
| Abnormality of neutrophil morphology 0.6553550427598239 1.2699559162172596 0.204100333571112 1.0 0.9257008111112084 5 Q14739 1 |
| Abnormal arachnoid mater morphology 0.5849708345258642 1.2698207856313697 0.2041484749487709 1.0 0.9257008111112084 8 Q9UHX1 1 |
| Abnormal cartilage morphology 0.5070812245117856 1.2685159489552518 0.2046137588120236 1.0 0.9259749471468416 12 O75874,Q7LGA3,Q9UHX1 3 |
| Anophthalmia 0.5845143780186561 1.2674842939825726 0.2049821760451649 1.0 0.9259749471468416 8 P41227,O43505,P53701,P52732 4 |
| Bilateral tonic clonic seizure with focal onset 0.940457536822316 1.2672898578311391 0.2050516656719905 1.0 0.9259749471468416 2 P07602 1 |
| Hyperesthesia 0.940457536822316 1.2672898578311391 0.2050516656719905 1.0 0.9259749471468416 2 P07602 1 |
| Abnormality of the musculature of the lower limbs 0.420822380300061 1.2668361127016152 0.2052138964699208 1.0 0.9259749471468416 27 P07196,O14979,Q9NW15,P50402,Q9BTV4,Q9NR77,Q9Y5P6,P50570,Q96RL7,Q12756,P53007 11 |
| Abnormality of the umbilical cord 0.6083341281051485 1.265800647814195 0.2055844631218026 1.0 0.9267393557750928 7 O75844 1 |
| Central scotoma 0.6103915778053732 1.2647162087278876 0.2059730774442512 1.0 0.9268791014614606 6 Q9H061,O75306 2 |
| Prominent sternum 0.9395173926668808 1.2637427660481342 0.2063223698866232 1.0 0.9268791014614606 2 P16278 1 |
| Metaphyseal cupping 0.939517392666877 1.2637427660481206 0.2063223698866281 1.0 0.9268791014614606 2 Q14739 1 |
| Head titubation 0.6078573417142251 1.2634702795568096 0.2064202209896806 1.0 0.9268791014614606 7 Q99720 1 |
| Abnormality of visual evoked potentials 0.4205866543234073 1.2627898452926576 0.2066647150705827 1.0 0.9270733615678428 25 P07602,O75503,Q13724,O60313,Q9H2M9,Q9GZY8,P51798,Q15067,Q9NZJ7 9 |
| Clonus 0.4156995598260133 1.2604756284202587 0.2074978343489817 1.0 0.9272040334481172 34 Q15043,Q9NW15,P07602,O75027,Q9Y619,Q9BQT8,Q99720,Q9NZJ7 8 |
| Poor motor coordination 0.4922387607258893 1.2574751430766269 0.208581634379861 1.0 0.9293380943791292 14 O75503,P42858,Q10713,Q9Y5P6,Q96RL7 5 |
| Aortic valve calcification 0.9281644182177322 1.2552082119778134 0.2094031852202187 1.0 0.93119736902466 3 O75844 1 |
| Mitral stenosis 0.9281644182177322 1.2552082119778134 0.2094031852202187 1.0 0.93119736902466 3 O75844 1 |
| Abnormal nasal mucosa morphology 0.9269621986657612 1.2508812051521043 0.2109778219690259 1.0 0.9363919323808308 3 Q13432 1 |
| Wormian bones 0.4757628010428703 1.2477743036631364 0.2121137215026782 1.0 0.9364441408299552 16 O75844,Q9Y487 2 |
| Orofacial dyskinesia 0.6503515643646745 1.2469613991068893 0.2124116516607035 1.0 0.9364441408299552 5 Q96RL7 1 |
| Chromosomal breakage induced by crosslinking agents 0.6948711189882445 1.2463121777241375 0.2126498088198147 1.0 0.9364441408299552 4 P13073 1 |
| Abnormal foot bone ossification 0.6948501400733552 1.246220769501137 0.2126833560407854 1.0 0.9364441408299552 4 Q15125,Q14739 2 |
| Nonketotic hypoglycemia 0.6059366291338851 1.243091649171202 0.2138340627138726 1.0 0.9380489819819908 6 P31751,P23786 2 |
| Macular atrophy 0.6035981042633805 1.2426464349418842 0.2139981506540205 1.0 0.9380489819819908 7 P04062 1 |
| Micropenis 0.3414907456375164 1.241735254536278 0.2143342579783884 1.0 0.9386292077057372 67 O75419,P48449,Q9BV10,Q9Y619,P42892,O95470,P16435,P53701,Q9NVI7,Q9UBM7,P46977,O43505,Q9Y5P6,Q9H2M9,Q10713,P18074,Q07864 17 |
| Episodic vomiting 0.5546396789974842 1.2388896785653312 0.2153863565603231 1.0 0.93881543362769 9 P00403,Q9Y619,Q2TAA5 3 |
| Memory impairment 0.4097445868070505 1.2383582983486778 0.2155832360403775 1.0 0.93881543362769 37 Q96RR1,P49770,P07602,Q8WVX9,Q9NZ08,O43681,Q06787,P42858,P00403,P05067,Q9NR50,Q9UJS0,Q9NZJ7 13 |
| Prenatal maternal abnormality 0.5020057789444274 1.2377441213148694 0.2158109536875478 1.0 0.93881543362769 12 Q14739,O43772 2 |
| Osteopetrosis 0.9231640964211102 1.2372156740526958 0.2160070240167899 1.0 0.93881543362769 3 Q15392 1 |
| Cardiac conduction abnormality 0.415388614362119 1.2353437739687696 0.2167025888520812 1.0 0.9408904225852608 31 P23786,O43772,P21912,P06280,P50402,P49748,Q9H490,O75306,P00403,Q9BTV4 10 |
| Movement abnormality of the tongue 0.647188775109707 1.2324239514522042 0.2177907584013902 1.0 0.9408904225852608 5 P10253 1 |
| Abnormal pupil morphology 0.4949030193833244 1.232038659707242 0.217934643129789 1.0 0.9408904225852608 13 O95202,Q9NR77 2 |
| Slow saccadic eye movements 0.5150206940447426 1.231333277664934 0.2181982405604228 1.0 0.9408904225852608 11 P04062,Q8IV08 2 |
| Abnormal sternum morphology 0.3739184239267367 1.2309689949571418 0.2183344607102808 1.0 0.9408904225852608 106 Q7LGA3,P50402,P16278,Q14739,O95202,Q96A33,Q96L58,Q9UHX1,Q03164,O95831,Q9Y487,Q8NCH0,P21912,O00443,Q9Y619,Q9H490,Q9NVI7,Q13510,Q9Y4P3,P04062 20 |
| Hepatosplenomegaly 0.4060494999661084 1.2307726035852908 0.2184079247954304 1.0 0.9408904225852608 39 P16278,Q14739,Q13510,P04062,P51798,P10619 6 |
| Ambiguous genitalia male 0.9301159511125086 1.2283111621824985 0.2193301823695483 1.0 0.9433018655711144 2 Q15392 1 |
| Hypoplasia of the iris 0.646197732089431 1.227868511774762 0.2194963316458074 1.0 0.9433018655711144 5 Q7LGA3 1 |
| Impaired temperature sensation 0.6026224366339942 1.2269980179301296 0.2198233358872641 1.0 0.9438267552960166 6 Q9NR77 1 |
| Bacterial endocarditis 0.9294891883422154 1.225951778333456 0.2202168220925504 1.0 0.9446358467228864 2 P04062 1 |
| Vertebral arch anomaly 0.689778585926392 1.2241254295808486 0.2209049143760535 1.0 0.9449640561270022 4 P10644,Q96HA7 2 |
| Narrow vertebral interpedicular distance 0.689778585926392 1.2241254295808486 0.2209049143760535 1.0 0.9449640561270022 4 P10644,Q96HA7 2 |
| Retinal thinning 0.9257286117204668 1.211803237704699 0.2255877086604614 1.0 0.9515147036831711 2 P51648 1 |
| Abnormal lung lobation 0.4915795194303413 1.21139346391694 0.2257446431790115 1.0 0.9515147036831711 13 Q9UBM7,O15111,Q14739,Q9UHX1 4 |
| Short femur 0.5992973227224679 1.2108469096454946 0.2259540829502164 1.0 0.9515269288406282 6 Q9UHX1 1 |
| Abnormality of circulating leptin level 0.686054412468559 1.207904031540208 0.2270841786844739 1.0 0.9548311340566144 4 O75844 1 |
| Abnormality of peripheral nerves 0.3921369439242885 1.2045182676851869 0.2283893257595513 1.0 0.9567250066890736 45 O95831,P07196,Q9UBB4,P07602,Q9Y619,Q8N2K0,Q96RL7,O95721,O15269,Q9GZY8,Q99720,Q9NR77,Q9NZJ7 13 |
| Abnormality of exocrine pancreas physiology 0.4407915537703444 1.201909277640483 0.2293986795083347 1.0 0.9590197064382014 21 P09601,Q9UHX1,Q15904 3 |
| Abnormal circulating bilirubin concentration 0.4126828805111631 1.1994297043555926 0.2303609031592355 1.0 0.9612977181653968 28 O75845,P23786,Q9UGP8,Q9Y5L0,P55263,O75648,P28288,P43034,Q14739,P41440,P00390,Q9UJS0 12 |
| Short upper lip 0.5967181007150837 1.198316367710739 0.2307938769355542 1.0 0.9614256506633332 6 O95202,Q08AM6 2 |
| Erythema 0.4275176316139902 1.198159446164488 0.2308549497958225 1.0 0.9614256506633332 23 P51648,Q06136,P22830,Q15125,P53701,Q9H1A4,P40818,P00403,P18074 9 |
| Pleural effusion 0.5090025812512254 1.1960729672623094 0.2316680857396273 1.0 0.9632625189552918 11 Q9NZ08,Q14739,P52732 3 |
| Gait ataxia 0.3421808428483965 1.192750740183117 0.2329670073249088 1.0 0.9633214774064736 72 Q8IV08,O14773,P04350,Q14108,Q06787,P56377,Q96RR1,Q9NW15,Q15907,P18074,Q9NR77,Q9NZJ7,P07602,P12235,P42858,Q9UID3,P07196,Q9UBB4,Q9NVI7,O43681,Q10713 21 |
| Abnormality of the odontoid process 0.5953146813163674 1.1914974627149306 0.2334583521200408 1.0 0.9633214774064736 6 P16278 1 |
| Contractures of the joints of the lower limbs 0.3728589611940502 1.1906797417883743 0.2337793337014277 1.0 0.9633214774064736 52 Q7LGA3,P23786,P21912,P50402,Q8N2K0,Q8IZA0,Q86XL3,O60313,Q9HC21,Q9Y5P6,Q99720 11 |
| Delayed epiphyseal ossification 0.6817048871505665 1.1889645394127666 0.2344536212777972 1.0 0.9633214774064736 4 Q96L58,Q96HA7 2 |
| Cardiorespiratory arrest 0.9094043887147348 1.1877759709861453 0.2349216836677867 1.0 0.9633214774064736 3 P13473,O43772 2 |
| Rhinitis 0.5687025927542133 1.186467527826236 0.2354377178121287 1.0 0.9633214774064736 8 P51798 1 |
| Cachexia 0.4538553301064742 1.1829057878180786 0.2368464875734222 1.0 0.9633214774064736 18 P07602,Q99720,P04062 3 |
| Pneumothorax 0.5912156933680349 1.1820592672016783 0.237182185172329 1.0 0.9633214774064736 7 Q8NCH0 1 |
| Decreased muscle mass 0.4578825295645068 1.1811967042668237 0.2375245902334586 1.0 0.9633214774064736 17 Q8NCH0,Q9Y487 2 |
| Polyphagia 0.5437326755264452 1.180190487077067 0.2379244617161842 1.0 0.9633214774064736 9 Q4J6C6,P42858 2 |
| Abnormal leukocyte physiology 0.3449192907660531 1.1798043035345518 0.2380780575164813 1.0 0.9633214774064736 60 P21964,Q9Y5L0,Q15904,Q9BV10,P02786,Q13724,Q9UJW0,Q14108,Q7Z5L9,Q6PGP7,P09601,P50851,P18074,P04062,P42345,P28070,Q9UJS0,Q96HA7 18 |
| Abnormality of the vertebral endplates 0.5905609718729465 1.1788543532294122 0.2384561767212765 1.0 0.9633214774064736 7 Q96L58,P51798,Q96HA7 3 |
| Progressive gait ataxia 0.4861700395549724 1.1777714078226114 0.2388877502422386 1.0 0.9633214774064736 13 Q9NW15,O14773,P07602,Q9NZJ7 4 |
| Enlarged thorax 0.4725475923760227 1.176315135077279 0.2394689699188588 1.0 0.9633214774064736 15 P04066,O75844,Q14739 3 |
| Abnormal acetabulum morphology 0.442769894474087 1.1743500222132202 0.240254854810449 1.0 0.9633214774064736 20 Q96AX1,Q96L58,P16278,Q96AY3,Q8WVQ1,Q9NUQ7,Q6NUQ1,Q96HA7 8 |
| Titubation 0.518384221287478 1.1733150579468203 0.2406694860011633 1.0 0.9633214774064736 10 Q99720 1 |
| Abnormal saccadic eye movements 0.4096313231596339 1.1705645132335027 0.2417738684447781 1.0 0.9646673387789434 25 Q8IV08,O14773,Q9NW15,O75306,P04062,P51798 6 |
| Telangiectasia 0.4057002393329066 1.170408703221615 0.2418365349181856 1.0 0.9646673387789434 34 P21912,P06280,Q8IZA0,Q9H1A4,O95155,O75306,Q14739,P40818,Q9BUR4,P18074,Q07864,P10619 12 |
| Abnormal blood transition element cation concentration 0.5044615682302606 1.1694519785774462 0.2422215782130081 1.0 0.9646673387789434 11 P28288,O43819,Q15904,Q9Y487 4 |
| Long fingers 0.3490568854966085 1.1682917219725155 0.2426891133183271 1.0 0.9646673387789434 82 Q06136,P23786,Q9UHX1,Q96L58,Q9BV10,Q15125,O95202,P16435,Q8NCH0,Q96EK5,P42892,Q03164 12 |
| Skin dimple 0.4093534625879142 1.1682222014741137 0.2427171473204015 1.0 0.9646673387789434 25 Q15125,P49366,P53701,Q9UM00,Q9Y4P3,O95202,Q03164 7 |
| Sepsis 0.4417522888935703 1.1668375822292878 0.2432759665949411 1.0 0.9646673387789434 20 Q9BV10,P02786,P42892 3 |
| Radioulnar dislocation 0.903448275862069 1.166414370629259 0.2434469510858679 1.0 0.9646673387789434 3 Q96L58,P16435 2 |
| Abnormality of the radioulnar joints 0.903448275862069 1.166414370629259 0.2434469510858679 1.0 0.9646673387789434 3 Q96L58,P16435 2 |
| Patchy changes of bone mineral density 0.9031888205804782 1.1654844491214995 0.2438229513438221 1.0 0.9646673387789434 3 Q13126 1 |
| Parkinsonism 0.4069304882818982 1.160957058987688 0.2456593627263203 1.0 0.9654013518072132 31 Q15043,Q96RR1,Q99720,P04062,P07602,Q14203,Q06787,Q96RL7,P05067,Q9NZJ7 10 |
| Dysesthesia 0.58689596740563 1.1609125581451396 0.2456774612786842 1.0 0.9654013518072132 7 Q9NR77 1 |
| Abnormal lower motor neuron morphology 0.5868409766346442 1.1606433417828643 0.2457869718734993 1.0 0.9654013518072132 7 Q99720 1 |
| Fibrous tissue neoplasm 0.4506199223741361 1.1600883246693396 0.2460128471937634 1.0 0.9654013518072132 18 Q13126,P10644,Q15392 3 |
| Short long bone 0.4021639404922597 1.1571374963174417 0.2472161892848756 1.0 0.9655385016703292 36 P10644,Q96L58,Q9UHX1,Q9BV10,P16278,Q8WVQ1 6 |
| Hyperthyroidism 0.5392100114541254 1.1558356764647209 0.2477483771251067 1.0 0.9655385016703292 9 Q96RR1,Q06787,P12235 3 |
| Adenoma sebaceum 0.6735653809971877 1.153545051581684 0.2486867371862589 1.0 0.9655385016703292 4 P43246,Q15437,P21912 3 |
| Angiofibromas 0.6735653809971877 1.153545051581684 0.2486867371862589 1.0 0.9655385016703292 4 P43246,Q15437,P21912 3 |
| Retinal dysplasia 0.584703026688745 1.150176503201353 0.2500711818307237 1.0 0.9655385016703292 7 P53701,P07437,O43505,Q10713,P52732 5 |
| Platyspondyly 0.4042697715852696 1.1497516889489618 0.2502461583796556 1.0 0.9655385016703292 33 O95831,Q96L58,P16278,P04066,Q14739,O75874,Q8WVQ1,P48735,Q96HA7 9 |
| Flaring of rib cage 0.9091193983077483 1.1494932251779413 0.2503526587310576 1.0 0.9655385016703292 2 P16278 1 |
| Atlantoaxial dislocation 0.9091193983077462 1.1494932251779348 0.2503526587310603 1.0 0.9655385016703292 2 Q8NCH0 1 |
| Ichthyosis 0.4013028884558625 1.1492345458779831 0.2504592795772553 1.0 0.9655385016703292 36 O75381,P51648,Q15800,P48449,Q15125,P50402,O95470,O95721,P04062 9 |
| Global brain atrophy 0.4443862007768052 1.1487512329702187 0.2506585734746502 1.0 0.9655385016703292 19 P07602,Q9UHX1,Q9NZJ7 3 |
| Spastic diplegia 0.4068857420323449 1.1471734994095433 0.2513099217759431 1.0 0.9672387716138428 26 P07602,P51648,Q99720 3 |
| Abnormal nipple morphology 0.3303846708749857 1.1460197319611765 0.2517869876939083 1.0 0.9680661194044878 63 Q7LGA3,P23786,Q2TAA5,Q9BV10,Q9UBM7,P07437,Q9UM00,Q96EK5,O95202,Q96A33 10 |
| Posteriorly rotated ears 0.370319408667569 1.1456375735850146 0.2519451437304061 1.0 0.9680661194044878 110 O75419,Q7LGA3,P23786,P07437,Q9HC07,O43505,O95202,Q96L58,Q9UHX1,P16435,O95155,Q9H2M9,Q8WVQ1,Q15392,O75381,Q8NCH0,Q9UM00,P42892,Q07864,Q9Y619,Q10471,Q4J6C6,Q9H490,Q9UBM7,Q10713,Q9Y4P3,P04062 27 |
| Abnormal bleeding 0.3638799779274141 1.1343573655414445 0.2566446751692752 1.0 0.9759241589087444 103 P23786,Q14108,Q14739,Q9NWM8,Q9NZ08,Q9UJS0,Q96L58,Q9UHX1,P05067,P51798,Q9Y487,Q13126,O75844,Q8NCH0,Q16625,P11117,P10644,P21912,P04062,P38435 20 |
| Hypercholesterolemia 0.478647048169979 1.13098760426648 0.2580603087707449 1.0 0.9759241589087444 13 Q8N511,P38571,Q9UJS0,Q15904 4 |
| Abnormal cranial nerve physiology 0.3355438355246309 1.1306385790311988 0.258207242806783 1.0 0.9759241589087444 70 Q15043,O75381,Q96RR1,P07196,P21912,Q9UHX1,P07602,O43819,Q9BUF5,P12235,Q13510,O75874,Q9Y5P6,P48735,Q9NZ08,P51798,Q9NR77,Q9NZJ7 18 |
| Abnormality of the fetal cardiovascular system 0.6249988081590836 1.1304498917657535 0.258286701275418 1.0 0.9759241589087444 5 P47985,P16435 2 |
| Asymmetric septal hypertrophy 0.9034785333751216 1.1284075836495735 0.259147826500443 1.0 0.9759241589087444 2 P54802 1 |
| Phalangeal dislocation 0.9031651519899724 1.1272374234457645 0.2596421117643719 1.0 0.9759241589087444 2 Q96L58 1 |
| Abnormal tarsal ossification 0.9031651519899724 1.1272374234457645 0.2596421117643719 1.0 0.9759241589087444 2 Q15125 1 |
| Advanced ossification of carpal bones 0.9031651519899724 1.1272374234457645 0.2596421117643719 1.0 0.9759241589087444 2 Q96L58 1 |
| Birth length less than 3rd percentile 0.6672795091504405 1.1262192166530924 0.2600727414910799 1.0 0.9759241589087444 4 Q9Y619 1 |
| Postural instability 0.4456534284082963 1.125048648323242 0.260568419950633 1.0 0.9759241589087444 18 O75503,Q9NR77 2 |
| Abnormality of the 5th toe 0.509753635185591 1.1243781200061 0.2608526501550532 1.0 0.9759241589087444 10 O75845,Q14739,Q9UBM7 3 |
| Abnormal activity of mitochondrial respiratory chain 0.3638290930737262 1.123939075232954 0.2610388729482866 1.0 0.9759241589087444 53 O43676,Q9P0J0,P13073,Q9Y2R0,Q70HW3,Q7KZN9,Q9UBX3,Q96CU9 8 |
| Generalized hyperpigmentation 0.4774976373237604 1.1238383597573065 0.2610816048259603 1.0 0.9759241589087444 13 P51648 1 |
| Abnormal lactate dehydrogenase level 0.4454694546105931 1.1237504520976618 0.26111890651676 1.0 0.9759241589087444 18 P23786,P10253,P38571,Q5JRX3,O43505,P41440,Q96RL7,Q9UJS0 8 |
| Abnormality of humoral immunity 0.3576434405459238 1.123654526797198 0.2611596145224648 1.0 0.9759241589087444 55 Q9Y5L0,Q15904,Q9BV10,P02786,Q13724,Q9UJW0,Q14108,Q7Z5L9,Q6PGP7,P09601,P50851,P18074,P04062,P42345,P28070,Q9UJS0,Q96HA7 17 |
| Hemangiomatosis 0.90191162644939 1.1225581591901574 0.2616251938755867 1.0 0.9759241589087444 2 O75874 1 |
| Visceral angiomatosis 0.90191162644939 1.1225581591901574 0.2616251938755867 1.0 0.9759241589087444 2 O75874 1 |
| Lymphangioma 0.90191162644939 1.1225581591901574 0.2616251938755867 1.0 0.9759241589087444 2 O75874 1 |
| Eeg with spike wave complexes 0.4771451822345353 1.1216460933592027 0.2620129452070907 1.0 0.9759241589087444 13 Q14108 1 |
| Papilloma 0.5326709293548996 1.1206167617263587 0.2624510270681162 1.0 0.9759241589087444 9 P18074,P16615,P21912,P20585 4 |
| Abnormality of dental morphology 0.331883190331974 1.118360336485867 0.2634131271526903 1.0 0.9770887896879584 67 Q96L58,Q7LGA3,Q9Y487,O00443,Q9Y619,Q9UM00,P42858,Q12959,Q9BUR4,Q9Y4P3,P51798,Q96A33,Q96HA7 13 |
| Aplasia hypoplasia involving bones of the thorax 0.3909897606803908 1.1178617206225276 0.2636260560937935 1.0 0.9770919070185896 41 Q96L58,Q9UHX1,Q9BV10,Q9Y619,O75844,Q14739,Q03164 7 |
| Shoulder pain 0.9003447195236673 1.1167122214666685 0.264117390605818 1.0 0.9776991005136192 2 Q9NR77 1 |
| Abnormal basal ganglia mri signal intensity 0.4032144994832161 1.1164856209937395 0.2642143217146637 1.0 0.9776991005136192 27 Q9BPX6,Q9P0J0,P16278,O75306,Q7KZN9,Q96CU9 6 |
| Decreased circulating progesterone 0.5793584684367951 1.1139599992299718 0.2652963475196994 1.0 0.9792980183423377 6 P16435,Q9NR50 2 |
| Abnormal circulating progesterone level 0.5793584684367951 1.1139599992299718 0.2652963475196994 1.0 0.9792980183423377 6 P16435,Q9NR50 2 |
| Aplasia hypoplasia of the 5th finger 0.4694754238826665 1.1124891789571485 0.2659278802114806 1.0 0.979320339036204 14 P13073,Q9UHX1 2 |
| Aplasia hypoplasia of the ribs 0.4026604429173198 1.111288609640988 0.2664441406470852 1.0 0.9804378242500972 26 Q9UHX1,Q9BV10,Q9Y619,Q14739,Q03164 5 |
| Hypoplastic female external genitalia 0.4621015724535089 1.108014078844397 0.2678557356720557 1.0 0.9817544798614546 15 O75419,Q9Y619,Q15042,P16435,Q08AM6,Q9H2M9 6 |
| Abnormal brain n acetyl aspartate level by mrs 0.8869762855141043 1.1074936433846878 0.2680805590765596 1.0 0.9817544798614546 3 P07602 1 |
| Abnormal brain choline level by mrs 0.8869762855141043 1.1074936433846878 0.2680805590765596 1.0 0.9817544798614546 3 P07602 1 |
| Reduced brain n acetyl aspartate level by mrs 0.8869762855141043 1.1074936433846878 0.2680805590765596 1.0 0.9817544798614546 3 P07602 1 |
| Abnormal paranasal sinus morphology 0.4333626345146441 1.1048706439170024 0.2692156443080564 1.0 0.9825189848769128 20 P10644,Q7Z5L9,P04066,Q03518,Q06787,Q13432,P28070 7 |
| Abnormality of the larynx 0.3800446283678313 1.104547640463282 0.2693556496417497 1.0 0.9825189848769128 46 Q9NZJ7,P21964,Q9UHX1,P07602,P16435,Q15165,Q9UBM7,Q14739,Q92804,Q13510,Q9UHD9,Q96HA7 12 |
| Pancreatic islet cell hyperplasia 0.8858580324414074 1.103503143754364 0.2698087270790843 1.0 0.983393042447264 3 Q14739 1 |
| Abnormal renal insterstitial morphology 0.5055601118417881 1.1005980514399674 0.2710716339831847 1.0 0.9848793515461608 10 P23786 1 |
| Biliary tract neoplasm 0.6606723353927404 1.0975301449026942 0.2724097105732497 1.0 0.9849909500465676 4 P07602 1 |
| Neoplasm of the gallbladder 0.6606723353927404 1.0975301449026942 0.2724097105732497 1.0 0.9849909500465676 4 P07602 1 |
| Progressive peripheral neuropathy 0.6606723353927404 1.0975301449026942 0.2724097105732497 1.0 0.9849909500465676 4 P07602 1 |
| Aplasia hypoplasia of the phalanges of the hand 0.3487716873306571 1.0970021998777753 0.2726404304412562 1.0 0.9849909500465676 57 P10644,Q9UHX1,P16435,Q03164,O75844,Q14739,Q8WVQ1,O15111,P42345,P51798,P38435 11 |
| Tongue fasciculations 0.5048888418215858 1.096791725545451 0.2727324481351338 1.0 0.9849909500465676 10 O95831,Q13510 2 |
| Scotoma 0.5282130003624202 1.0966080327202776 0.2728127745299371 1.0 0.9849909500465676 9 Q9H061,O75306,P04439 3 |
| Shuffling gait 0.4666646496622285 1.094572307806705 0.2737040531011585 1.0 0.986256989631421 14 O75844 1 |
| Vertebral fusion 0.5276350897566964 1.09349593459979 0.2741761129872464 1.0 0.9863956138319252 9 Q9UHX1 1 |
| Abnormality of the extraocular muscles 0.6594863134196609 1.0923845336722953 0.2746641181938392 1.0 0.9863956138319252 4 Q9BVA1 1 |
| Abnormality of the scrotum 0.3741802242714283 1.0912886693853676 0.2751458818764558 1.0 0.9863956138319252 48 Q7LGA3,Q8TCJ2,O75648,Q9BV10,Q9Y619,P16435,Q9UBM7,P07437,P46977,Q9UM00,Q9H2M9,P42858,Q96EK5,P18074 14 |
| Caudate atrophy 0.893450329050456 1.0910334632799972 0.2752581582987206 1.0 0.9863956138319252 2 Q96RL7 1 |
| Soft skin 0.5257331982411169 1.083254827631656 0.2786953296986472 1.0 0.989591786309001 9 Q13126,Q96L58 2 |
| Emphysema 0.5474934809678145 1.0777014700447018 0.28116700223796 1.0 0.9933561191029768 8 Q03518 1 |
| Neoplasm of the parathyroid gland 0.6131364792893879 1.0760172094149707 0.2819195598830928 1.0 0.9936681107134032 5 P10644,O75874 2 |
| Parathyroid adenoma 0.6131364792893879 1.0760172094149707 0.2819195598830928 1.0 0.9936681107134032 5 P10644,O75874 2 |
| Abnormality of the parathyroid morphology 0.6131364792893879 1.0760172094149707 0.2819195598830928 1.0 0.9936681107134032 5 P10644,O75874 2 |
| Loss of speech 0.434246167456649 1.0755734715612826 0.2821180570464796 1.0 0.9936681107134032 19 P07602,P50897,Q9NZJ7 3 |
| Cerebral dysmyelination 0.5691844901741485 1.0742181679103593 0.2827249114818921 1.0 0.9942852421351734 7 P07602 1 |
| Cataplexy 0.6550796984760604 1.073278915769978 0.2831459922446004 1.0 0.9945790526836276 4 Q9BTW9,P61916 2 |
| Chronic rhinitis 0.87691544970429 1.0716415533937562 0.2838810617836378 1.0 0.9945790526836276 3 P51798 1 |
| Talipes equinovarus 0.3378768789822245 1.0698737180586142 0.2846761545633063 1.0 0.9945790526836276 78 O75845,Q96L58,Q9Y487,Q9BV10,Q9Y619,Q15125,P16435,Q15907,Q8NCH0,Q9UM00,Q8WVQ1,Q9HC21,Q96A33,O95202,Q9NR77,Q15392 16 |
| Thin eyebrow 0.4626364665809966 1.0688982325824887 0.2851155284559434 1.0 0.9945790526836276 14 Q15125,P48449,Q96EK5,Q9UM00 4 |
| Purpura 0.4283262735394833 1.067659540406288 0.2856741153393933 1.0 0.9945790526836276 20 P10644,P21964,Q7Z5L9,Q8NCH0,Q16625,P04062,P51798,P38435 8 |
| Fasciculations 0.3933239642859029 1.066768191304861 0.2860765255905537 1.0 0.9945790526836276 35 Q9BTW9,O95831,P07196,Q9NW15,P07602,P06280,Q9BQT8,Q8NBU5,O43819,Q13510,Q9NZJ7 11 |
| Angiokeratoma 0.875235109717872 1.065665208032083 0.2865750105826872 1.0 0.9945790526836276 3 P06280,P16278 2 |
| Hypointensity of cerebral white matter on mri 0.5673821111854302 1.065401287936283 0.2866943742053087 1.0 0.9945790526836276 7 P07602 1 |
| Osteolysis 0.3966596514119731 1.0634753002150752 0.2875664605551251 1.0 0.9958476936991656 29 O75844,P04062,O75874,Q14108 4 |
| Cold induced muscle cramps 0.8745309653321798 1.063161876265151 0.2877085479300172 1.0 0.9958476936991656 3 P23786 1 |
| Fragile skin 0.5443982348026509 1.0618364765304331 0.2883099271915854 1.0 0.9960288729788233 8 Q8NCH0 1 |
| Decreased number of peripheral myelinated nerve fibers 0.4550061795675932 1.0616172285233234 0.2884094891586173 1.0 0.9960288729788233 15 Q96RL7,O15269,Q9NR77 3 |
| Facial capillary hemangioma 0.8849890316515217 1.0596227478868194 0.289316260443063 1.0 0.9976646795368198 2 P16435 1 |
| Vaginal atresia 0.8843622688812303 1.057300913687291 0.2903742764125243 1.0 0.9998163613097903 2 P16435 1 |
| Osteomyelitis 0.4601668360481928 1.053161241029826 0.2922670989697611 1.0 1.0 14 Q13126,P51798 2 |
| Hepatic encephalopathy 0.6504170277324673 1.0530870116860669 0.2923011150368717 1.0 1.0 4 Q9UJS0,Q6NUQ1 2 |
| Low alkaline phosphatase 0.6076890463610745 1.0510576661900073 0.2932321056240896 1.0 1.0 5 Q92643,P38571 2 |
| Rigidity 0.3572444281197879 1.051040659214803 0.2932399162104735 1.0 1.0 53 Q96RR1,Q96CU9,Q9BPX6,P07602,P16278,P04350,Q8NBU5,P12235,O43681,Q06787,P52732,P42858,P04062,Q15392,Q9NZJ7 15 |
| Congenital ichthyosiform erythroderma 0.5639413558027997 1.048574986249 0.294373773351634 1.0 1.0 7 P19447,Q15125,Q15738,P04062,P18074 5 |
| Stenosis of the external auditory canal 0.5639402299445839 1.0485694817127655 0.2943763079350856 1.0 1.0 7 O95202,P16435 2 |
| Mitochondrial respiratory chain defects 0.6490517959376033 1.0471798936228809 0.2950166167726866 1.0 1.0 4 O75306,Q4J6C6 2 |
| Wide nasal ridge 0.6484670540221857 1.0446505605892484 0.2961845024331371 1.0 1.0 4 Q15022,P27635 2 |
| Proximal muscle weakness 0.3408976403059728 1.044137935263368 0.2964215768756439 1.0 1.0 58 Q96RR1,P21912,Q9BPX6,P10253,Q13126,P50402,Q9BQT8,P13473,O60313,P12235,Q13510,Q9Y5P6,Q99720,Q9BTV4 14 |
| Facial asymmetry 0.3915879203357433 1.0430406059224036 0.2969294867422281 1.0 1.0 34 Q8NCH0,O95202,Q03164,Q9UHX1 4 |
| Abnormal sacrum morphology 0.3934974338370604 1.042622696678624 0.2971230731588532 1.0 1.0 31 Q15125,P49366,P53701,P04066,Q14739,Q9UM00,Q9Y4P3,O95202,Q03164 9 |
| Decreased activity of mitochondrial complex iv 0.444931053854132 1.0408105480057854 0.2979634836317073 1.0 1.0 16 Q70HW3,Q9Y2R0 2 |
| Abnormal temper tantrums 0.5177779590201337 1.04043683218742 0.2981369971445695 1.0 1.0 9 P04062,Q9BVA1 2 |
| Hypochromic anemia 0.4694443573534133 1.0400061625908454 0.298337037568348 1.0 1.0 12 O75027,Q10471 2 |
| Mesomelia 0.563929396500957 1.0390496988101785 0.2987816230795954 1.0 1.0 6 Q14739,Q96HA7 2 |
| Tachycardia 0.3940908106715083 1.0384704313795512 0.2990510943190849 1.0 1.0 26 P21912,P23786,O43772,P49748,P42892 5 |
| Vascular neoplasm 0.3909259739832558 1.037064616993849 0.2997057438233104 1.0 1.0 34 Q7LGA3,P21912,Q9UHX1,P16435,Q9UBM7,O75874,P48735,O95202,P10619 9 |
| Wide anterior fontanel 0.4133498613622624 1.036793565876597 0.2998320747801437 1.0 1.0 22 O75419,O75381,Q9Y487,Q15125,P16435,Q32P28,O15111,P42345 8 |
| Pelvic kidney 0.5393883075548656 1.0361698064687714 0.3001229301798112 1.0 1.0 8 Q9UHX1 1 |
| Bronchiectasis 0.4441370421189368 1.0354805496551989 0.3004445453426707 1.0 1.0 16 Q13432 1 |
| Thoracic scoliosis 0.4684228281613692 1.0338056771753534 0.3012270170613127 1.0 1.0 12 Q9UHX1 1 |
| Thickened skin 0.3522573378116411 1.027998893805276 0.3039503480388004 1.0 1.0 99 P51648,P50402,P16278,O95721,P04066,P07437,Q14739,Q9NWM8,Q15800,Q15125,P06280,O95470,P16615,O15269,Q9BUR4,P31751,O75381,O75844,P42167,Q9BTV4,P48449,Q06136,P21912,P53634,P04062 25 |
| Laryngeal dystonia 0.8762143528674426 1.027182898311709 0.3043343493458801 1.0 1.0 2 Q96RL7 1 |
| Hand polydactyly 0.3905475173590393 1.026911913566582 0.3044619439380311 1.0 1.0 33 O75845,Q9UHX1,Q15125,Q9UBM7,Q14739,Q9UM00,Q10713,O95202,Q15067 9 |
| Abnormal ureter morphology 0.3926029351964458 1.0268731378682556 0.3044802045837365 1.0 1.0 25 O75844,P23786 2 |
| Renal dysplasia 0.4799320927494428 1.0256289345982763 0.305066523411531 1.0 1.0 11 O75306,O43505 2 |
| Hypopigmentation of the fundus 0.863576173699134 1.024301006692361 0.305693122608152 1.0 1.0 3 Q9Y619 1 |
| Abnormal iliac wing morphology 0.4795815119406921 1.0235754214678363 0.3060358592865166 1.0 1.0 11 O95831,P16278 2 |
| Spinal muscular atrophy 0.4613043754410589 1.0231519337591493 0.3062360151799081 1.0 1.0 13 Q99720 1 |
| Acute hepatic failure 0.4611995930632666 1.0225009591762335 0.3065438589076277 1.0 1.0 13 O75648,P38571,P08574,Q16836,Q6NUQ1 5 |
| Abnormality of the peripheral nervous system 0.352620115914777 1.0223352255444855 0.3066222665295597 1.0 1.0 100 Q9Y5L0,Q13724,O95721,O15360,Q06787,P41440,Q96RL7,Q99720,Q15067,Q9NQZ5,Q96RR1,P21964,Q15125,P41227,P06280,O60313,O15269,Q9GZY8,Q96EK5,Q9NR77,Q9NZJ7,O95831,P07602,Q8N2K0,O76024,P42892,P07196,Q9UBB4,Q9Y619,Q9UBM7,O43681,Q15120,Q10713,P04062 34 |
| Variable expressivity 0.3374726513972228 1.0205008147285994 0.3074910030625508 1.0 1.0 82 P00374,P07602,Q15125,O95470,P04350,P17900,Q6P4A7,Q70HW3,Q15058,Q13510,Q9BVA1,Q8WVQ1,P00403,Q9H061,Q9BUF5,Q9NR77,Q9NZJ7 17 |
| Joint laxity 0.3313682631486161 1.020204151353448 0.3076316492083362 1.0 1.0 75 O75419,Q96L58,Q9UHX1,Q9Y487,Q9Y619,Q96HY6,P16278,Q32P28,Q9HC07,Q8NCH0,Q06787,Q9H2M9,Q8WVQ1,Q9Y5P6,Q9Y4P3,Q96A33,Q96HA7 17 |
| Abnormal autonomic nervous system physiology 0.3881253905590467 1.0194346025717358 0.3079966856587839 1.0 1.0 35 Q9Y5L0,P04062,P07602,P06280,O76024,O43681,Q06787,Q13509,P41440,Q96RL7,P42892,Q15067,Q9NZJ7 13 |
| Intestinal malrotation 0.3916638863754845 1.018413682467782 0.3084814025578639 1.0 1.0 28 Q8NCH0,Q14739,O95202,Q15392 4 |
| Premature ventricular contraction 0.5575014812460604 1.0171050855979336 0.3091034412634705 1.0 1.0 7 O43772,Q9BTV4 2 |
| Absent hypoplastic paranasal sinuses 0.8614904610753681 1.0169214392103918 0.3091908034692672 1.0 1.0 3 P10644 1 |
| Ulnar deviation of finger 0.5352524488990346 1.0149958154607155 0.3101078222073297 1.0 1.0 8 Q9UBM7,P11274,Q96L58,Q9H2M9 4 |
| Abnormal aortic valve physiology 0.3802890962895431 1.0148296486492787 0.3101870380959437 1.0 1.0 41 Q9UHX1,P16278,O75844,Q9Y4P3,P04062,Q9NZ08 6 |
| Atelectasis 0.4903130248917389 1.0141942117844074 0.3104900900202247 1.0 1.0 10 Q96L58,Q13510 2 |
| Acne 0.4779672330505672 1.0141214261943925 0.3105248153228221 1.0 1.0 11 Q92542,Q9NZ08,P21964 3 |
| Abnormality of the tarsal bones 0.3909153381234619 1.0126288126174527 0.3112374921247114 1.0 1.0 25 Q9UHX1,Q15125,P16435,O75844,Q14739,Q8WVQ1 6 |
| Exostoses 0.6408274177176336 1.0116490014958126 0.3117059077007171 1.0 1.0 4 O75874 1 |
| Abducens palsy 0.8596578166426909 1.0104426926398002 0.3122832424426436 1.0 1.0 3 P07602 1 |
| Abnormal circulating igg level 0.4403618068885061 1.0101463351904318 0.3124251857125375 1.0 1.0 16 Q15904,Q9BV10,Q13724,Q7Z5L9,P18074,Q96HA7 6 |
| Hyporeflexia of upper limbs 0.8708868693199723 1.0075602857720272 0.3136656026232469 1.0 1.0 2 Q9NR77 1 |
| Irregular menstruation 0.6397730019237277 1.0071010513814014 0.3138862160223279 1.0 1.0 4 P10644 1 |
| Frequent falls 0.3821152750375203 1.0049218639742228 0.3149344755347107 1.0 1.0 39 Q96RR1,P21912,P07602,P12235,Q13510,P04062,Q9NR77,Q9NZJ7 8 |
| Aplasia hypoplasia involving bones of the feet 0.3279089171314466 0.9984691042909982 0.3180519388431067 1.0 1.0 73 P55011,Q7LGA3,P13073,Q06787,O95202,Q96A33,Q9UHX1,O95155,Q08AM6,Q13509,Q9H2M9,Q8WVQ1,Q03164,Q96HA7,P42858,P10644,O75648,Q10471,Q9UBM7,Q13510 20 |
| Impaired social interactions 0.3603367652573573 0.9970452886498364 0.3187425276337796 1.0 1.0 50 Q06787,O75746,Q15067,Q5XKP0,O43676,Q96RR1,Q5KU26,Q9UHX1,Q15907,Q13509,Q9GZY8,Q2TAA5,Q9NPL8,Q9P0J0,Q9NX14,O75306,Q10471,Q9Y6M9,Q96CU9 19 |
| Abnormal midbrain morphology 0.5550040719306609 0.9957964401791488 0.3193490602833091 1.0 1.0 6 P04062 1 |
| Chordee 0.5527285819704266 0.9938056984245652 0.3203174713484089 1.0 1.0 7 P53701,P16435 2 |
| Abnormal spermatogenesis 0.4507281497265039 0.9930625134536172 0.3206794908024566 1.0 1.0 14 Q13423,P04062 2 |
| Elevated circulating alanine aminotransferase concentration 0.4742910018015053 0.9926025284672092 0.3209036920983272 1.0 1.0 11 P10253,Q15904 2 |
| Joint contracture of the hand 0.357332101226395 0.9921359055168296 0.32113123342113 1.0 1.0 51 O75419,P07196,P41227,P11274,Q15042,P16435,P42892,Q8IZA0,Q9Y619,O95155,P27635,O75844,Q13509,Q8WVQ1,Q15022,P18074,Q9NR77,Q15392 18 |
| Neuronal loss in basal ganglia 0.594656296159325 0.9914784180312066 0.3214520256509969 1.0 1.0 5 O75306,P42858 2 |
| Micrographia 0.8538783952662015 0.9900460016042216 0.3221516348372604 1.0 1.0 3 P04062 1 |
| Decreased circulating igg level 0.4606314574532024 0.986549727858973 0.3238634256097707 1.0 1.0 12 Q15904,Q13724,Q7Z5L9,P50851,P18074,Q96HA7 6 |
| Abnormal muscle fiber protein expression 0.5529169332828895 0.9856943548903498 0.3242831204602365 1.0 1.0 6 P50402,Q9Y5P6 2 |
| Kinetic tremor 0.3844064322565904 0.9855850837248544 0.3243367606378127 1.0 1.0 35 Q9NW15,P07602,O75027,Q14108,Q9NZJ7 5 |
| Aspiration pneumonia 0.387846660207156 0.985014512910982 0.3246169422725247 1.0 1.0 27 P16278,Q13510 2 |
| Anteriorly placed anus 0.4603578512750798 0.9848916665488568 0.3246772871967907 1.0 1.0 12 Q9NX14,P53701,P16435,P49748 4 |
| Chronic fatigue 0.5292116166060554 0.9840999786040138 0.3250663574548751 1.0 1.0 8 P07602,Q13423 2 |
| Centrocecal scotoma 0.8643058602319085 0.983403080256696 0.3254090948931112 1.0 1.0 2 O75306 1 |
| Abnormality of subcutaneous fat tissue 0.4491658501020407 0.9831250758723344 0.3255458841414784 1.0 1.0 14 Q9Y487 1 |
| Adducted thumb 0.4002079345429676 0.9804453181344313 0.3268663491373411 1.0 1.0 23 Q9Y4P3,Q8NCH0,P42892,Q86XL3 4 |
| Bilateral cryptorchidism 0.5065342535464592 0.9800070561111316 0.3270826356370397 1.0 1.0 9 P48449,P37268,P27635,Q07864,P78318 5 |
| Abnormality of the calf musculature 0.4357080473860568 0.9789402773491276 0.3276094894933066 1.0 1.0 16 Q96RL7,Q9NR77 2 |
| Premature graying of hair 0.5281486324817659 0.9786678060076336 0.3277441441511608 1.0 1.0 8 Q13126 1 |
| Impaired visuospatial constructive cognition 0.5494911998864394 0.9780165202083836 0.3280661534791884 1.0 1.0 7 P00403,P42858 2 |
| Delayed puberty 0.3560177065768124 0.9779682059438978 0.3280900492374421 1.0 1.0 51 Q15800,P06280,P16435,Q14108,Q9NVI7,O75844,P04062,Q9UJS0 8 |
| Abnormality of the spleen 0.3639072887268803 0.9774290365493492 0.3283567937042457 1.0 1.0 119 Q13724,P16278,P28288,Q14108,P04066,Q14739,P33991,Q96RL7,O95202,Q9NZ08,Q96A33,Q9UJS0,P21964,P54802,O95155,P15586,Q9BUR4,Q96HY6,P51798,P28070,Q15392,Q9NZJ7,Q9BT22,P07602,P38571,P61916,Q16625,O75845,P10253,Q15904,O00443,Q13510,Q10713,P04062,P10619 35 |
| Ecchymosis 0.4481891778443401 0.9769145581378288 0.3286114538464042 1.0 1.0 14 P10644,Q8NCH0,P04062 3 |
| Retinal degeneration 0.3318358729919639 0.9766314553714296 0.3287516406518382 1.0 1.0 59 P51648,Q7LGA3,P68371,O14773,Q9NW15,O75503,P04439,Q96S66,O60313,P50897,Q13510,P42858,P04062 13 |
| Abnormal bone structure 0.4008233955330837 0.9726208558052823 0.3307417732924342 1.0 1.0 174 Q15043,Q9Y5L0,P16278,Q14108,Q9HC07,Q14739,O75874,Q9HC21,Q9NWM8,O95202,Q96RR1,Q96L58,P54802,Q15125,P06280,Q8WVQ1,Q9BUR4,P48735,P51798,Q15392,Q9NZJ7,Q96HA7,O75381,O95831,Q9Y487,P07602,Q13126,Q9BV10,O75844,P12235,O75845,P10644,P21912,Q9Y619,Q9H490,Q86XL3,Q9UBM7,Q15058,Q13510,Q9Y4P3,P04062,P38435 42 |
| Axonal degeneration 0.5905203688871505 0.9726206168766862 0.3307418920848834 1.0 1.0 5 Q9BQT8 1 |
| Increased circulating acth level 0.6312422387142894 0.9703752400203106 0.3318594857883006 1.0 1.0 4 P16435 1 |
| Craniofacial osteosclerosis 0.8479800526342746 0.9692870423736316 0.3324019925203654 1.0 1.0 3 P51798 1 |
| Widened cerebral subarachnoid space 0.8478853338078317 0.96895418003343 0.3325680510441704 1.0 1.0 3 Q9BV10 1 |
| Abnormal pulmonary valve morphology 0.4521216908039984 0.9661554638571428 0.33396639446246 1.0 1.0 13 P10644,P51798 2 |
| Abnormality of the phalanges of the toes 0.4264386710809173 0.9641597052324316 0.3349658628993526 1.0 1.0 17 O75844,Q7LGA3 2 |
| Non midline cleft lip 0.5482267466688207 0.9630138355728516 0.3355405800840549 1.0 1.0 6 O15111,Q96L58 2 |
| Poor eye contact 0.3774093947337023 0.9605193626368264 0.336793890760334 1.0 1.0 39 Q96RR1,O43676,Q5KU26,Q9UHX1,Q9NPL8,Q9P0J0,Q10471,Q15907,O75306,Q06787,O75746,Q96CU9,Q5XKP0 13 |
| Aspiration 0.5028027032069922 0.9599855990026528 0.3370624628427534 1.0 1.0 9 P17900 1 |
| Limited elbow movement 0.3835731185853283 0.9593431408364752 0.3373859089470485 1.0 1.0 32 Q96L58,Q7LGA3,P23786,O00443,P50402,P37268,P16435,Q9BTV4,Q96HA7 9 |
| Pectus excavatum 0.3271009483729379 0.9544122143264084 0.3398750259253975 1.0 1.0 76 P78318,Q7LGA3,Q96L58,Q9UHX1,P21912,Q9Y487,P50402,Q9H490,P07437,Q8NCH0,Q06787,Q9Y4P3,P04062,Q03164,Q96A33,Q9BTV4 16 |
| Tics 0.544542264742544 0.9539061831259602 0.3401311333762971 1.0 1.0 7 Q9UHX1 1 |
| Elevated gamma glutamyltransferase level 0.6273649232722017 0.9537276586390482 0.3402215159121571 1.0 1.0 4 Q9UJS0,Q5XKP0 2 |
| Delayed menarche 0.5462407673543233 0.953419661116268 0.3403774836262068 1.0 1.0 6 O75844 1 |
| Muscle fiber atrophy 0.4025706587996106 0.9531441276031528 0.3405170506199551 1.0 1.0 22 P50402,Q99720,P23786 3 |
| Metaphyseal dysplasia 0.4549490680803286 0.9521391175920269 0.3410264327057564 1.0 1.0 12 O95831,Q9HC07,O00443 3 |
| Hyperlipoproteinemia 0.4671874958365288 0.9510756815593606 0.3415659586140505 1.0 1.0 11 Q8N511,P50402,Q9UJS0,Q9BTV4 4 |
| Joint stiffness 0.339264648987135 0.949004633233458 0.3426182556166428 1.0 1.0 56 P51648,P54802,P50402,P16278,P16435,O76024,O95155,O75844,Q96AY3,O75874,Q9H2M9,P15586,Q9Y4P3,P48735,P18074,Q9BTV4 16 |
| Abnormal hand bone ossification 0.5219262909358635 0.9469014937057888 0.3436889767360904 1.0 1.0 8 Q15125,Q96L58,Q8WVQ1 3 |
| Aganglionic megacolon 0.4306397247362662 0.9449945819200036 0.3446616421308057 1.0 1.0 16 P21964,Q9UBM7,O15360,Q10713,Q96EK5,P42892 6 |
| Positional foot deformity 0.3414804784641903 0.9431544970749056 0.3456018840706494 1.0 1.0 94 Q9HC21,Q9NWM8,O95202,Q96A33,Q96L58,P21964,Q9UHX1,Q6ZXV5,Q15125,P16435,Q15907,Q9H2M9,Q8WVQ1,P18074,Q9NR77,Q15392,Q9Y487,Q9BV10,Q8NCH0,Q96AY3,Q9UM00,O75845,P07196,Q9Y619,Q8NBU5,Q9NVI7,Q9UBM7 27 |
| Slowly progressive 0.344605034995639 0.9422162044031324 0.3460819592547488 1.0 1.0 54 O95831,P07196,Q8IV08,O14773,Q9P0J0,P50402,Q8N2K0,O00584,P12235,Q99720,Q9NR77,Q9BTV4 12 |
| Fever 0.3311305786048124 0.9396347339139796 0.3474049533736769 1.0 1.0 82 Q14C86,P23786,P51572,Q9HC07,Q14739,Q9NZ08,Q92621,P35610,P11274,P06280,P18074,P28070,Q9Y3Z3,Q9NR77,Q9NZJ7,Q8N1F7,P07602,P38571,Q13546,P00403,Q9NR50,P10644,P06400,P49770,P10253,Q7Z5L9,Q12769,Q13510,P52565 29 |
| Pituitary adenoma 0.4477094990196345 0.9388176418833316 0.3478243795210285 1.0 1.0 13 P10644,P48735,O75874,P40818 4 |
| Cutaneous finger syndactyly 0.85177060482608 0.9376656417720604 0.3484162660185557 1.0 1.0 2 Q9Y619 1 |
| Coarse facial features 0.3213838650507263 0.9347141107907048 0.3499356528798398 1.0 1.0 61 P56377,Q7LGA3,O95831,P54802,O00443,P06280,P16278,P04066,Q06787,P15586,Q9Y4P3,P18074,Q96A33,P10619 14 |
| Abnormal meningeal morphology 0.4146710138552399 0.9344556764756876 0.3500688893800867 1.0 1.0 19 O75845,Q9UHX1,Q15904,Q9Y5P6,Q10713 5 |
| Sclerosis of hand bone 0.837588576199815 0.9328689760011112 0.3508876223036514 1.0 1.0 3 Q15125 1 |
| Absent brainstem auditory responses 0.8369905956112857 0.9307796811677284 0.3519675422800667 1.0 1.0 3 O60313,P07196 2 |
| Hyperglycemia 0.5187538330764823 0.9307290113388768 0.3519937587401927 1.0 1.0 8 O75844 1 |
| Diastasis recti 0.6219580893946002 0.9305650261100028 0.3520786128194308 1.0 1.0 4 Q8NCH0 1 |
| Peripheral hypermyelination 0.8492635537449192 0.9285651191943296 0.3531145056052307 1.0 1.0 2 Q9NR77 1 |
| Color vision defect 0.434364394582807 0.9269013435484722 0.3539777595803353 1.0 1.0 15 Q13432,Q9H061,Q6P4Q7 3 |
| Hypoplasia of the radius 0.474820271757244 0.9266475617305796 0.3541095520014048 1.0 1.0 10 Q9BV10 1 |
| Microtia third degree 0.8354805415364541 0.9255069228400348 0.3547022843377538 1.0 1.0 3 Q9Y619 1 |
| Hypoplasia of the frontal lobes 0.4627357448032364 0.9250963758235292 0.3549157780822121 1.0 1.0 11 Q9UBM7,Q86XL3 2 |
| Premature loss of teeth 0.4449681755827274 0.9218528521992698 0.3566053347684437 1.0 1.0 13 O75844,P51798,P53634 3 |
| Chondrosarcoma 0.8338557993730431 0.9198389666377716 0.3576569170854371 1.0 1.0 3 P48735,O75874 2 |
| Abnormality of the maxilla 0.3776897653968659 0.9176796674731628 0.3587865954780986 1.0 1.0 34 P10644,Q9Y619,Q14739,Q9UM00,Q9BUR4,Q96EK5 6 |
| Impaired proprioception 0.3738814988606607 0.9161768748897487 0.3595741324229009 1.0 1.0 38 Q96RR1,P07196,Q8IV08,P54802,O14773,Q9Y619,O43819,O00165,Q15120,Q96RL7,Q9NR77 11 |
| Exercise induced muscle stiffness 0.8458163585083135 0.9160791433256676 0.3596253861306171 1.0 1.0 2 P53985 1 |
| Peripheral axonal degeneration 0.324012120149017 0.9149527559426466 0.360216432631478 1.0 1.0 76 Q96RR1,O95831,Q8IV08,Q9BPX6,P07602,Q9BQT8,Q6DKK2,O76024,Q9NVI7,O60313,P12235,O15269,Q9HC21,P00403,Q96RL7,Q9UHD9,Q15067,Q9NZJ7 18 |
| Premature loss of primary teeth 0.6182227295057701 0.9146011731441016 0.3604010426219803 1.0 1.0 4 P51798,P53634 2 |
| Hyperactive patellar reflex 0.5363428482186285 0.9140436144415828 0.3606939286993949 1.0 1.0 7 P13073 1 |
| Preaxial hand polydactyly 0.4722128626802901 0.9119549701258888 0.3617924224963342 1.0 1.0 10 Q9UHX1 1 |
| Abnormal nerve conduction velocity 0.3693319659021162 0.9094561171137604 0.3631094115890652 1.0 1.0 41 O95831,P07196,Q9UBB4,P07602,Q9Y619,Q8N2K0,O15269,Q9GZY8,Q99720,Q9NR77,Q9NZJ7 11 |
| Megalocornea 0.4599169963168005 0.90866872273078 0.3635250188151 1.0 1.0 11 Q9Y4P3,Q96EK5,O95202 3 |
| Melanocytic nevus 0.4425488508437728 0.9068955377469752 0.3644620410958166 1.0 1.0 13 P10644,P21912,Q96AY3,Q15437,Q15022,P18074 6 |
| Deep palmar crease 0.459274535172919 0.9049270677621372 0.365504026106124 1.0 1.0 11 Q9Y487 1 |
| Increased ldl cholesterol concentration 0.4709188746038495 0.9046690021852892 0.365640767653862 1.0 1.0 10 Q8N511,P50402,Q9UJS0,Q9BTV4 4 |
| Abnormal circulating fatty acid concentration 0.4143748564037584 0.904629060738798 0.3656619343340539 1.0 1.0 18 O75381,P23786,O43772 3 |
| Retinal coloboma 0.4924599916778936 0.9046159080149484 0.3656689046921606 1.0 1.0 9 Q15042,Q9UHX1,Q9H2M9,Q10713 4 |
| Abnormality of skeletal maturation 0.3367740326797474 0.9044070806255136 0.3657795850234582 1.0 1.0 92 P48449,O95831,Q15800,P10644,Q9Y619,P13073,P16435,Q14108,Q8WVQ1,Q9Y4P3,P04062,O95202,Q03164,Q96HA7 14 |
| Distal amyotrophy 0.3187904622153711 0.9024609049899016 0.3668120801884658 1.0 1.0 61 P07196,P21912,Q8N2K0,Q96RL7,Q9BQT8,Q9NVI7,O15269,Q13510,Q99720,Q9NR77 10 |
| Ovarian cyst 0.4238670826128261 0.8997221036795884 0.3682681574107993 1.0 1.0 16 P31751,P10644,P16435,Q9Y4P3 4 |
| Abnormal atrioventricular conduction 0.4301395489081399 0.899425941297367 0.3684258267149922 1.0 1.0 15 P21912,O43772,P50402,P06280,P49748 5 |
| Abnormal blood phosphate concentration 0.4914001705380822 0.8989543059735852 0.3686770000489203 1.0 1.0 9 P51798 1 |
| Abnormality of the gastric mucosa 0.4294942020528782 0.8952333025173157 0.3706623858751343 1.0 1.0 15 O76024,Q6PGP7,Q14739,P50851,Q9Y4P3,P04062 6 |
| Complete atrioventricular canal defect 0.839862112190549 0.8945898119896404 0.3710063999607826 1.0 1.0 2 Q9UHX1 1 |
| Weight loss 0.3232081774299682 0.8935943374845111 0.371538977144527 1.0 1.0 77 P35610,Q13423,P10644,Q06136,P04062,P07602,Q96RL7,Q9NZ08,O75844,P42858,Q99720,P42892,Q9NZJ7 13 |
| Pericardial effusion 0.5317245920835825 0.8916456652308932 0.3725828854200106 1.0 1.0 7 P04062,P49748,Q14108 3 |
| Mitochondrial myopathy 0.3766997305034222 0.8898131145805506 0.3735662434433462 1.0 1.0 27 Q96RR1,O43676,O75306,P12235,P00403,Q96CU9 6 |
| Abnormality of the ureter 0.3113561459255601 0.889309008328667 0.373837031454256 1.0 1.0 64 Q7LGA3,P23786,Q9UHX1,P21912,P16435,Q86XL3,Q9UBM7,O75844,Q9Y4P3 9 |
| Abnormal aortic valve morphology 0.370737814645285 0.8868629512135431 0.3751526903852764 1.0 1.0 38 Q96L58,P21964,Q9UHX1,P06280,P37268,Q6PGP7,O75844,O15360,Q9Y4P3,P04062 10 |
| Absence of subcutaneous fat 0.532365083713594 0.8865798650119375 0.3753051382503785 1.0 1.0 6 O75844 1 |
| Abnormal endocrine physiology 0.571495290192408 0.886289303466812 0.3754616515399371 1.0 1.0 5 Q13423,P16435 2 |
| Underdeveloped supraorbital ridges 0.4439845787367487 0.8859304316898186 0.375655016319592 1.0 1.0 12 Q6PGP7,O75381,P16435 3 |
| Short palm 0.3882192300441432 0.8850549095732014 0.3761270169960196 1.0 1.0 23 Q9Y619,P10644,Q9UHX1 3 |
| Abnormality of the parathyroid gland 0.4114522489324042 0.8841223719857826 0.3766301575521469 1.0 1.0 18 P00403,P10644,O75874 3 |
| Velopharyngeal insufficiency 0.5708974369937332 0.8835894127805344 0.3769178962901645 1.0 1.0 5 Q12959 1 |
| Anorexia 0.3753791229810584 0.879004655825484 0.3793987514320607 1.0 1.0 29 P35610,Q13423,P10644,Q14108,P04062,Q9NZ08 6 |
| Stillbirth 0.4547561156609708 0.87864195587849 0.3795954395555561 1.0 1.0 11 O75844,P04062,Q14739 3 |
| Emg chronic denervation signs 0.4322627165762193 0.8759195081200901 0.3810737934298149 1.0 1.0 14 P07602,O43819,O60313,Q13510,Q9NZJ7 5 |
| Pulmonary fibrosis 0.4060403960632157 0.8724692095738423 0.3829524584037211 1.0 1.0 19 P09601,P04062,Q8IZA0 3 |
| Fractures of the long bones 0.8200170630009322 0.8717976763025751 0.3833187624932428 1.0 1.0 3 Q13126 1 |
| Impaired vibratory sensation 0.3741494105008695 0.8699119002292508 0.3843485515959148 1.0 1.0 30 Q96RR1,P07196,O14773,Q9Y619,O43819,O00165,Q15120,Q06787,Q96RL7,Q9NR77 10 |
| Postaxial hand polydactyly 0.4359315144121301 0.8660662230711356 0.3864538467883158 1.0 1.0 13 O75845,Q14739,Q9UBM7,Q9UM00 4 |
| Abnormality of the nasal skeleton 0.5279404022925334 0.8653505900651715 0.3868463915579425 1.0 1.0 6 P10644 1 |
| Status epilepticus with prominent motor symptoms 0.8174028730315406 0.8627729648015227 0.388262306230859 1.0 1.0 3 Q13510 1 |
| Abnormal renal tubule morphology 0.395875294989976 0.8623563416724922 0.3884914573742937 1.0 1.0 21 Q9Y4P3,O75306,P23786 3 |
| Abnormal placental size 0.6058342297679521 0.8619090074947181 0.3887375918873432 1.0 1.0 4 O75844 1 |
| Atrial arrhythmia 0.4632543130366396 0.8615986143620161 0.3889084337749753 1.0 1.0 10 Q96RR1,P50402,P12235 3 |
| Abnormality of pancreas physiology 0.3613444269949041 0.8614473529475608 0.3889917053523501 1.0 1.0 43 Q9UHX1,Q15904,Q9UJW0,P53985,P09601,Q14739,P00403 7 |
| Skeletal muscle hypertrophy 0.3578580279876338 0.8606366995608615 0.3894381665653363 1.0 1.0 45 Q7LGA3,Q01433,P21912,P07686,P10253,O00443,O75648,Q9Y4P3,P16278,P04066,P53007,Q15437,Q9NR77,Q9Y5P6,Q10713,P50570,Q96A33,Q9NRZ9 18 |
| Centrally nucleated skeletal muscle fibers 0.525072193164888 0.8594636670724631 0.3900847569655585 1.0 1.0 7 Q15650,Q9BPX6,Q9Y5L0,P51114,P50570 5 |
| Polar cataract 0.816144275495285 0.8584341095465337 0.3906527995802995 1.0 1.0 3 Q7LGA3 1 |
| Opisthotonus 0.3788388449612502 0.8574562836572759 0.3911927650991271 1.0 1.0 24 P04062,P07602,Q99720,P11117,Q9NZJ7 5 |
| Postaxial polydactyly 0.3995627172252817 0.8556830660018293 0.3921731094302076 1.0 1.0 20 O75845,Q15125,Q9UBM7,Q14739,Q9UM00,Q10713 6 |
| Subsarcolemmal accumulations of abnormally shaped mitochondria 0.5642644097828549 0.8536977905633873 0.3932724586687688 1.0 1.0 5 P12235 1 |
| Postural tremor 0.4064478058568458 0.8490745103036232 0.3958398329080075 1.0 1.0 18 O14773,O75306,Q9NR77,Q14108 4 |
| Cough 0.3713434256338143 0.8455552332010902 0.3978009080325286 1.0 1.0 26 P35610,P10644,Q9NR77,P04062 4 |
| Prematurely aged appearance 0.3672226827432264 0.8448367049948492 0.3982020179467256 1.0 1.0 37 Q9BUR4,Q13126,O75844,Q9Y487 4 |
| Inflammatory abnormality of the eye 0.3661463640431276 0.8441213086967025 0.3986016214833017 1.0 1.0 38 P51648,Q15800,P02786,P04439,Q14739,Q9BUR4 6 |
| Vertebral compression fracture 0.4154075752673211 0.8433639099470543 0.3990249496600053 1.0 1.0 16 Q14108,Q32P28,Q96AY3,Q96HY6,P04062 5 |
| Ulnar claw 0.8113100638341426 0.8418065998640093 0.3998962170906299 1.0 1.0 3 Q9NR77 1 |
| Hydrocele testis 0.5230083090576816 0.8417444643883221 0.3999310037066959 1.0 1.0 6 Q9UBX3,Q9NVI7 2 |
| Angina pectoris 0.5610285872226173 0.8391602850071957 0.4013793703549537 1.0 1.0 5 O75844 1 |
| Sound sensitivity 0.5001394059660201 0.8362630412786919 0.4030069401424372 1.0 1.0 8 Q9Y4P3,P17900 2 |
| Muscle fibrillation 0.4259564513990639 0.836128261549203 0.4030827507993941 1.0 1.0 14 O95831,Q13510 2 |
| Aplasia hypoplasia involving the skeletal musculature 0.5000174790658657 0.8356471788747383 0.403353418978625 1.0 1.0 8 Q9NR77,Q9Y487 2 |
| Abdominal distention 0.3872424855119787 0.8346302512186454 0.40392592402873 1.0 1.0 22 Q9Y5L0,O75648,P07602,P38571,Q96HY6,P04062,P42345,Q9NZJ7 8 |
| Prominent antitragus 0.8229395173926681 0.8340984482377624 0.4042255095111091 1.0 1.0 2 Q92643 1 |
| Abnormal brainstem mri signal intensity 0.4005463675593704 0.8331398623517463 0.4047658542551324 1.0 1.0 19 O95831,O43676,Q96CU9 3 |
| Abnormality of blood circulation 0.311388565095173 0.8323797909236762 0.4051946053656963 1.0 1.0 69 P10644,P23786,Q9UHX1,P21912,Q9Y487,O75844,Q14739,P05067,P04062,Q9NZ08,Q9UJS0,P38435 12 |
| Abnormal left ventricle morphology 0.3695587467096984 0.8290245153472291 0.4070905351592691 1.0 1.0 27 Q96RR1,P21912,P10253,P06280,P12235,P00403 6 |
| Aplasia hypoplasia of the nails 0.31095850802148 0.826888719369031 0.4083001377982995 1.0 1.0 69 Q96L58,P23786,Q9Y487,Q9BV10,O75844,Q14739,Q9BUR4,Q9Y4P3 8 |
| Ankyloglossia 0.4978272120772669 0.8245915280801659 0.4096035327990586 1.0 1.0 8 O75844,P11274 2 |
| Abnormal lower limb bone morphology 0.3840890705479855 0.8242527779484312 0.409795944136655 1.0 1.0 166 O75419,P55011,Q7LGA3,P16278,P13073,P04066,O43505,O15360,Q14739,Q06787,O95202,Q96A33,Q96L58,Q9UHX1,P21964,Q15125,P11274,P06280,P16435,O95155,Q32P28,Q08AM6,Q13509,Q9H2M9,Q8WVQ1,Q96HY6,P18074,Q03164,P51798,Q15392,Q9NXE4,Q9NZJ7,Q96HA7,O95831,Q9Y487,P07602,Q9BV10,Q9Y4R8,O75844,Q96AY3,P42858,O15111,Q9NUQ7,Q6NUQ1,O75845,P10644,O75648,O00443,Q9Y619,Q10471,Q9UBM7,Q9H1A4,Q15058,Q13510,Q10713,P04062 56 |
| Abnormality of the clitoris 0.3747430396923142 0.8240897745532593 0.409888549821443 1.0 1.0 24 O75419,O75381,Q9Y619,Q15042,Q9NX14,P16435,P53701,Q9UBM7,Q08AM6,Q9H2M9 10 |
| Lower limb asymmetry 0.4975986873012221 0.8234388612337048 0.4102584714985078 1.0 1.0 8 P07437,Q96HA7 2 |
| Ventricular tachycardia 0.4123772198650284 0.8232395979061937 0.4103717548377368 1.0 1.0 16 P23786,O43772,P41227,P49748,Q9BTV4 5 |
| Abnormality of the musculature of the thigh 0.4974280785775368 0.8225784254772737 0.4107477715865986 1.0 1.0 8 P07196,P50402,O14979,Q9BTV4 4 |
| Optic disc pallor 0.3456815596288475 0.8177398426849094 0.4135057547970873 1.0 1.0 49 O43676,Q96L58,O95831,P04439,Q96S66,O60313,O75306,Q10713,Q96RT7,Q9H061,P51798,Q9GZY8,Q96CU9,Q6P4Q7 14 |
| Calvarial hyperostosis 0.5560798640684756 0.8169890281549088 0.4139346982018652 1.0 1.0 5 P10644 1 |
| Ectopia lentis 0.4759911599997515 0.8169702379921592 0.4139454364747192 1.0 1.0 9 Q03518 1 |
| Abnormality of circulating adrenocorticotropin level 0.4758424743689822 0.8161826363596631 0.414395686265498 1.0 1.0 9 Q13423,P10644 2 |
| Thick eyebrow 0.3532870609327345 0.8150128552974022 0.4150649516506444 1.0 1.0 45 O95831,P62266,Q9UHX1,P15586,Q9UM00,Q96EK5,Q03164 7 |
| Aplasia hypoplasia involving the metacarpal bones 0.3735875022521744 0.8146900285581206 0.4152497625206954 1.0 1.0 24 P10644,Q96L58,P16435,Q9H1A4,Q32P28,Q14739,Q8WVQ1 7 |
| Abnormal visual electrophysiology 0.3381850897210174 0.8124841735124299 0.4165138642858417 1.0 1.0 52 O14773,P07602,Q13724,O75503,Q96S66,O60313,P50897,P12235,Q9GZY8,P51798,Q15067,Q9NZJ7 12 |
| Periportal fibrosis 0.8166718896897578 0.811934443808128 0.4168292490519818 1.0 1.0 2 P49748 1 |
| Delayed closure of the anterior fontanelle 0.4310783802936245 0.8084521915170774 0.4188303173005943 1.0 1.0 12 Q9Y487 1 |
| Schistocytosis 0.592948958292904 0.8075839101075181 0.4193301522375905 1.0 1.0 4 O75845 1 |
| Azoospermia 0.4262607089626365 0.8066626739897814 0.4198608544216164 1.0 1.0 13 P04062 1 |
| Synostosis of joints 0.3657118965110479 0.805243965993891 0.4206789098664973 1.0 1.0 33 Q96L58,Q9UHX1,P16435,Q9Y4P3,O95202 5 |
| Poor gross motor coordination 0.7997506041350825 0.8023053103704965 0.4223763713521378 1.0 1.0 3 O75503 1 |
| Decreased circulating iga level 0.4522239370448269 0.7999281830659566 0.4237524078803629 1.0 1.0 10 Q13724,Q7Z5L9,P42345,Q15904 4 |
| Congenital malformation of the left heart 0.5909592287374429 0.7992448725172262 0.4241484374076032 1.0 1.0 4 O60826,Q8N3U4 2 |
| Proximal amyotrophy 0.4249278542104668 0.7985049451070846 0.4245775246095102 1.0 1.0 13 P07196,O14979,P50402,P35637,Q9BTV4 5 |
| Stroke 0.3659100597587817 0.7983446672096555 0.4246705038947507 1.0 1.0 30 Q96L58,O00443,P06280,O95721,O75844,P00403,Q9Y4P3,P05067 8 |
| Decreased plasma carnitine 0.4293827939560959 0.7983203700002313 0.4246846000593685 1.0 1.0 12 P23786,O43772 2 |
| Abnormality of the gallbladder 0.3621243709856808 0.7979360168245055 0.424907621117238 1.0 1.0 37 O75845,P22830,P07602,P04066,Q9UBM7,Q9Y4P3,P04062,O95202,Q96A33,Q9NZJ7 10 |
| Basal ganglia calcification 0.5138061763917157 0.797886470186503 0.4249363755482904 1.0 1.0 6 P00403,O60313,Q9Y3Z3 3 |
| Abnormal atrioventricular valve physiology 0.3437694166638436 0.7977826476667065 0.4249966327175052 1.0 1.0 49 P10644,Q96L58,Q15904,P06280,P53701,O75844,O75306,Q5T2R2,Q9Y4P3,P04062,Q9NZ08 11 |
| Recurrent otitis media 0.3654895192384575 0.7961806024518158 0.4259270704023086 1.0 1.0 26 P50851,Q9H1A4,Q9UBM7,Q14739,Q06787,Q12959,Q13432,Q8N5M9 8 |
| Vacuolated lymphocytes 0.7968541450581184 0.7924681190513269 0.4280877739242084 1.0 1.0 3 P16278 1 |
| Juvenile aseptic necrosis 0.5123453421517312 0.79094867468549 0.4289739427819801 1.0 1.0 6 Q9Y619 1 |
| Abnormal urine carbohydrate level 0.4231412060930182 0.7875823212589461 0.4309410588501927 1.0 1.0 13 P04066,P16278,P10253 3 |
| Nephrotic syndrome 0.3643543818972907 0.7866273152813144 0.4315000643071949 1.0 1.0 26 P06280,O95470,Q14108,Q8NCH0,Q9BT22 5 |
| Abnormal morphology of the abdominal musculature 0.4387492685522983 0.7860491495857858 0.4318386933476232 1.0 1.0 11 Q8NCH0,Q8WVQ1 2 |
| Breech presentation 0.4893946134330477 0.7821716686173044 0.4341136921980519 1.0 1.0 8 Q9UBM7,Q9Y619 2 |
| Posterior embryotoxon 0.4118724921992667 0.7813220643314711 0.4346130961289438 1.0 1.0 15 O75381,Q7LGA3,Q9Y4P3,P53701 4 |
| Hypoplasia of the brainstem 0.3637210305420231 0.7785823585905363 0.4362257744005169 1.0 1.0 28 Q13885,Q96EK5,Q6ZXV5,P43034,P07437,O43505,Q13509,Q9Y5P6,Q10713,Q9UPN3 10 |
| Abnormality of dental structure 0.3089039096883451 0.7781996904121543 0.4364512993041218 1.0 1.0 71 P51648,Q96L58,P21964,Q9Y487,O00443,P16278,P53701,Q9H1A4,O75844,Q9HC07,Q9UBM7,Q6P4Q7,Q9BUR4,Q9Y4P3,P18074,P51798 16 |
| Abnormal size of the clitoris 0.3845303470493101 0.7773023268468858 0.436980422564329 1.0 1.0 21 O75419,O75381,Q9Y619,P53701,P16435,Q9UBM7,Q08AM6 7 |
| Abnormality of the carpal bones 0.4053847613481131 0.7769610928383152 0.4371817253724104 1.0 1.0 16 Q15125,Q96L58,P16435,Q8WVQ1 4 |
| Multiple mitochondrial dna deletions 0.7914595896998857 0.7742156331797941 0.4388032849392833 1.0 1.0 3 P12235 1 |
| Nocturia 0.7914595896998857 0.7742156331797941 0.4388032849392833 1.0 1.0 3 P12235 1 |
| Heart block 0.3620212104160504 0.7697448279388227 0.4414512729448867 1.0 1.0 25 P23786,O43772,P06280,P50402,P49748,Q9H490 6 |
| Abnormality of the pubic bone 0.5072167940938246 0.766651207806255 0.4432889206923973 1.0 1.0 6 O95202 1 |
| Abnormality of the knee 0.3215758815380798 0.7648152789572541 0.4443815482813884 1.0 1.0 87 O75419,Q7LGA3,P23786,P16278,Q96L58,P21964,Q6ZXV5,Q15125,Q9Y5P6,Q8WVQ1,Q96HY6,P51798,Q9NR77,Q96HA7,O95831,P37268,P21912,Q9Y619,Q86XL3,Q9H1A4,Q13510,Q9Y4P3 22 |
| Accelerated skeletal maturation 0.4235892742130411 0.763800340480971 0.4449862339038304 1.0 1.0 12 P10644,Q03164 2 |
| Abnormal large intestine physiology 0.3940410565599627 0.7626506921925504 0.4456717440968742 1.0 1.0 18 Q9BTW9,P21964,P07602,P06280,O43681,Q06787,Q9NZJ7 7 |
| Calcific stippling 0.7871848992484478 0.7598184242461259 0.4473631283285786 1.0 1.0 3 Q15125 1 |
| Limb pain 0.484639992172979 0.7583665159446453 0.4482315973892636 1.0 1.0 8 O15269,Q96HA7 2 |
| Narrow forehead 0.345693420818013 0.7568330419792051 0.4491498944182419 1.0 1.0 46 Q9BTW9,O75845,P55011,Q7LGA3,Q9UHX1,P41227,Q9H490,Q9UBM7,Q9UM00,Q96A33,Q9NXE4 11 |
| Narrow mouth 0.3106764839777438 0.7563318010251634 0.4494502860595433 1.0 1.0 75 O75419,Q7LGA3,P21964,O75648,Q9Y487,Q9Y619,P16435,P43034,Q6PGP7,P07437,O95155,Q8NCH0,O75844,P42858,Q8WVQ1,Q9NVI7,P04062,Q15392 18 |
| Hypoplasia of teeth 0.389459574992248 0.7541975117006138 0.4507306315263393 1.0 1.0 19 O75844,P51648,P18074,O00443 4 |
| Protein losing enteropathy 0.5801470444240362 0.7541925194338455 0.450733628771705 1.0 1.0 4 Q9BT22 1 |
| Primitive reflex 0.5028472111491908 0.7528461448398835 0.4515423737979365 1.0 1.0 7 Q14203,P17900 2 |
| Retinal fold 0.7847157375990825 0.7515299234120494 0.4523337991418852 1.0 1.0 3 Q96RT7 1 |
| Abnormal lumbar spine morphology 0.4634068711905337 0.7506028489414048 0.4528917060800386 1.0 1.0 9 P04062 1 |
| Hamartomatous polyposis 0.7840125391849557 0.7491732105490522 0.4537528136221012 1.0 1.0 3 P21912,P20585 2 |
| Type ii lissencephaly 0.783385579937308 0.7470734395030175 0.4550192318523705 1.0 1.0 3 O43505,Q9Y5P6 2 |
| Acute coronary syndrome 0.3917779215525429 0.7469742693893394 0.4550790927215851 1.0 1.0 18 O75844,Q9NZ08,Q9Y4P3 3 |
| Erythroderma 0.5015077157674396 0.7464743542696227 0.4553809180197992 1.0 1.0 7 Q15125,P48449,P18074,P19447 4 |
| Heparan sulfate excretion in urine 0.7831123283245665 0.7461587075036723 0.4555715487529506 1.0 1.0 3 P54802 1 |
| Abnormality of the basal ganglia 0.3150204881666078 0.7460163683172034 0.4556575273321641 1.0 1.0 81 O95831,P23786,Q9BPX6,Q9P0J0,P16278,Q96RL7,O75306,Q9BVA1,P42858,Q7KZN9,Q9GZY8,P00403,Q9NZ01,P04062,Q96CU9 15 |
| Neck muscle weakness 0.3941940841961749 0.7436733348535831 0.4570741251031731 1.0 1.0 17 P07602,Q99720,Q9Y5P6,Q9NZJ7 4 |
| Cerebral hypomyelination 0.4002061604344187 0.7428519209272392 0.4575713369187273 1.0 1.0 16 P49770,P04350,P51572,O75746,Q9NR50 5 |
| Bile duct proliferation 0.5772969582941463 0.7423956867721093 0.4578476320918982 1.0 1.0 4 Q9NSD9,Q5XKP0,P54098 3 |
| Athetosis 0.3999124743523938 0.740922235326281 0.4587405926833978 1.0 1.0 16 O00584,Q96CU9,Q9UHD9,O14949 4 |
| Kyphoscoliosis 0.3211098044624755 0.7406840733799038 0.458885018338671 1.0 1.0 56 Q96L58,Q5KU26,Q9Y487,Q9Y4R8,P41227,P04350,Q8NBU5,O75844,Q9HC07,Q8NCH0,Q96AY3,Q13509,Q9NWM8,P18074,Q9NR77,Q96HA7 16 |
| Abnormal cerebral vascular morphology 0.3013091429804391 0.7379438203779577 0.4605485888486209 1.0 1.0 66 P10644,Q96L58,P23786,P21912,P10253,O00443,P38435,P06280,O95721,O75844,P00403,Q9Y4P3,P04062,P05067,Q96HA7 15 |
| Abnormality of thalamus morphology 0.3904260664193629 0.7376253152007913 0.4607421675859402 1.0 1.0 18 Q96RR1,O00443,O75306,Q9Y5P6,Q9GZY8 5 |
| Dyspnea 0.3307333831168408 0.7361051387170953 0.4616667157406695 1.0 1.0 101 O75419,P23786,Q13724,P49748,P04350,O43819,Q92804,Q96RR1,Q96L58,Q9UHX1,P06280,Q15165,Q9NZJ7,O95831,Q8TCJ2,P07602,P53701,O75844,O75306,P12235,Q16134,P10644,P10253,O75648,Q9Y619,Q13510,P04062,Q9UHD9 28 |
| Positive romberg sign 0.4604993986975672 0.7353633351785054 0.4621182452090457 1.0 1.0 9 Q96RR1,P07196,Q8IV08 3 |
| Arthralgia 0.3572954142451744 0.7349593503697731 0.4623642509368411 1.0 1.0 34 Q15800,Q9Y4P3,P06280,Q13510,Q96HY6,P18074,Q9NZ08 7 |
| Aplasia hypoplasia of the patella 0.479573144844424 0.7330989908231405 0.4634980556080856 1.0 1.0 8 O75419,Q9Y619,Q9H1A4 3 |
| Scanning speech 0.7786559231909272 0.7312774759158001 0.4646096854897719 1.0 1.0 3 O14773 1 |
| Lymphoproliferative disorder 0.5742425727556472 0.7297924829691879 0.4655170399944692 1.0 1.0 4 P33991,P50851 2 |
| Recurrent respiratory infections 0.3478476529832957 0.729291577126392 0.4658233234506466 1.0 1.0 124 P02786,P16278,P09601,P33991,Q13432,O95202,P54802,P15586,Q9BUR4,P51798,Q9NZJ7,Q9Y487,P07602,Q9BV10,P10253,Q9UJW0,Q03518,Q13510,Q9Y4P3,P04062 20 |
| Sea blue histiocytosis 0.778044622918578 0.729241681843484 0.465853838506802 1.0 1.0 3 P16278 1 |
| Abnormal proportion of class switched memory b cells 0.7925415230335329 0.7280002256105448 0.4666134481857951 1.0 1.0 2 Q7Z5L9 1 |
| Adenomatous colonic polyposis 0.5359594762783532 0.7277452471118546 0.4667695468872253 1.0 1.0 5 Q07864 1 |
| Protuberant abdomen 0.5736518407092508 0.727359780382912 0.4670055859230406 1.0 1.0 4 P04062,P42345 2 |
| Muscle spasm 0.3169630168208023 0.7259193116449354 0.4678882369801767 1.0 1.0 57 Q96RR1,P07196,P23786,P53985,P06280,P49748,P13473,Q15165,P12235,Q9Y5P6,P04062,Q9UHD9,Q9NR77 13 |
| Delayed ability to stand 0.5728011751239932 0.7238594341401805 0.4691520366313151 1.0 1.0 4 P10253 1 |
| Finger agnosia 0.7912879974929552 0.7237062996896186 0.4692460647737455 1.0 1.0 2 P05067 1 |
| Deposits immunoreactive to beta amyloid protein 0.7912879974929552 0.7237062996896186 0.4692460647737455 1.0 1.0 2 P05067 1 |
| Upper limb postural tremor 0.5724015574739392 0.7222162210601721 0.4701615518799962 1.0 1.0 4 Q9NR77 1 |
| Poikiloderma 0.534691431694674 0.7221761418993488 0.4701861896714987 1.0 1.0 5 Q9H1A4,P18074 2 |
| Vegetative state 0.5345882722863032 0.7217233971278014 0.4704645541856784 1.0 1.0 5 P07602 1 |
| Low set posteriorly rotated ears 0.307851465859925 0.7206020071508613 0.4711544185786782 1.0 1.0 75 O75381,Q96L58,Q10471,P16435,Q4J6C6,Q9UBM7,P07437,O95155,Q8NCH0,Q9UM00,Q9H2M9,Q8WVQ1,Q10713,Q9Y4P3,P04062,O95202,Q15392 17 |
| Abnormality of adrenal morphology 0.3562250616912114 0.7184565497496345 0.4724758296167539 1.0 1.0 26 P10644,P21912,P38571,P16435,O75844,O75874,P48735,Q07864 8 |
| Bilateral microphthalmos 0.4965011125840988 0.7162128670280598 0.4738599192120636 1.0 1.0 6 P18074,Q9UHX1 2 |
| Accessory spleen 0.4949829715849471 0.7155421491264449 0.4742741059660194 1.0 1.0 7 O95202 1 |
| Abnormal light and dark adapted electroretinogram 0.4949736610657397 0.7154981405529992 0.4743012894226037 1.0 1.0 7 P50897 1 |
| Abnormal full field electroretinogram 0.4949736610657397 0.7154981405529992 0.4743012894226037 1.0 1.0 7 P50897 1 |
| Esophageal varix 0.7738093692243637 0.7151746817269277 0.4745011115052926 1.0 1.0 3 P04062 1 |
| Broad nasal tip 0.3336380965366656 0.7144073560304055 0.4749753246453438 1.0 1.0 50 O95831,Q7LGA3,Q9UHX1,Q9Y487,P16278 5 |
| Distal arthrogryposis 0.5326868296817574 0.7133871091016697 0.47560624772999 1.0 1.0 5 Q8NCH0 1 |
| Small epiphyses 0.5702170646713642 0.7132468034822818 0.4756930489906983 1.0 1.0 4 O95831 1 |
| Abnormal cortical bone morphology 0.3955691366342497 0.7124480550163649 0.4761873669688936 1.0 1.0 16 P51798,Q86XL3 2 |
| Abnormal gallbladder morphology 0.3557801298622954 0.7109192836477917 0.4771342555592168 1.0 1.0 30 O75845,P22830,P07602,Q9Y4P3,P04062,Q9NZJ7 6 |
| Limited extraocular movements 0.4939928051225409 0.7108640407380153 0.4771684911295546 1.0 1.0 7 O75306,Q9BVA1 2 |
| Episodic pain 0.4253901127609356 0.7096159656454369 0.4779423162469784 1.0 1.0 11 Q13423,P23786 2 |
| Abnormality of female external genitalia 0.3506291492479523 0.7095211906393503 0.4780011061774203 1.0 1.0 39 O75419,O75381,P10644,Q9Y619,P53701,P16435,Q9UBM7,O95155,Q15392 9 |
| Paresthesia 0.3605418655442459 0.7091158078527188 0.4782526139892913 1.0 1.0 24 P54802,P06280,P05067,Q9NZ08,Q9NR77 5 |
| Capillary malformation 0.4139824255951769 0.7069454810893655 0.479600358673482 1.0 1.0 12 Q9Y4P3,Q9UHX1 2 |
| Otitis media 0.3233733415688531 0.7056990746664964 0.4803752965470829 1.0 1.0 54 Q9Y4P3,Q8N5M9,Q9H1A4,Q03518,Q9UBM7,Q14739,Q06787,Q12959,Q13432,O95202,P51798,Q96A33 12 |
| Delayed fine motor development 0.4241588453059611 0.7026199613410032 0.482292619291494 1.0 1.0 11 P51798,P16435 2 |
| Blindness 0.3098550980899442 0.7024392826875536 0.4824052545469077 1.0 1.0 79 O43676,P21912,P07602,P06865,P16278,P17900,O75306,P50897,O43505,Q9NR50,Q9NZ08,P51798,Q96CU9,Q9NZJ7 14 |
| Dyschromatopsia 0.4915186607772577 0.6991942897474052 0.4844306187033194 1.0 1.0 7 Q9H061 1 |
| Bone cyst 0.7837668442494607 0.6980930344843951 0.4851190139053301 1.0 1.0 2 P21912 1 |
| Conjunctival hamartoma 0.7837668442494607 0.6980930344843951 0.4851190139053301 1.0 1.0 2 P21912 1 |
| Abnormal talus morphology 0.3846736689388766 0.697981889142468 0.4851885203327799 1.0 1.0 18 Q9UHX1,P16435,O75844,Q15058,Q08AM6,P18074,Q9NXE4 7 |
| Absent sternal ossification 0.7834534628643186 0.6970315422704391 0.4857830543088766 1.0 1.0 2 Q9Y619 1 |
| Abnormality of the first metatarsal bone 0.7834534628643164 0.697031542270432 0.485783054308881 1.0 1.0 2 Q8WVQ1 1 |
| Abnormality of the distal phalanx of the hallux 0.7834534628643164 0.697031542270432 0.485783054308881 1.0 1.0 2 Q8WVQ1 1 |
| Abnormal pelvis bone morphology 0.7834534628643167 0.6970315422704313 0.4857830543088814 1.0 1.0 2 P16435 1 |
| Venous insufficiency 0.566138028831694 0.6965595666865837 0.486078467160604 1.0 1.0 4 P04062 1 |
| Varicose veins 0.566138028831694 0.6965595666865837 0.486078467160604 1.0 1.0 4 P04062 1 |
| Bilateral talipes equinovarus 0.492166576260735 0.6959521788115585 0.486458778453648 1.0 1.0 6 Q15392 1 |
| Oligohydramnios 0.3537472287258445 0.6945735461552397 0.487322595367142 1.0 1.0 31 Q96L58,Q7LGA3,P23786,Q9UHX1,P16435,Q15058 6 |
| Epistaxis 0.3924768079267191 0.6922532345272989 0.4887783129526792 1.0 1.0 16 P10644,P04062 2 |
| Decreased light and dark adapted electroretinogram amplitude 0.7666529501827367 0.6915595308847473 0.4892139834671767 1.0 1.0 3 P50897 1 |
| Scarring 0.353408985431397 0.6905725488519562 0.4898342035118457 1.0 1.0 30 Q96L58,Q15125,Q92542,P04439,Q8NCH0,Q9NWM8 6 |
| Weak voice 0.4706023373398811 0.6886498179984071 0.4910436626537029 1.0 1.0 8 P04062 1 |
| Brain imaging abnormality 0.3514754965959923 0.6880582583090409 0.4914160950701309 1.0 1.0 35 P35610,P07602,Q9BV10,O75306,P00403,Q9BT22,Q9NZJ7 7 |
| Large placenta 0.7650756214999475 0.6863815922455586 0.4924725092333193 1.0 1.0 3 O75844 1 |
| Abnormal circulating free fatty acid concentration 0.5634764210391024 0.6857154343744908 0.4928925719570554 1.0 1.0 4 P49748 1 |
| Abnormality of bladder morphology 0.4509607627664124 0.6856589038572519 0.4929282275429187 1.0 1.0 9 Q9Y4P3,P16435 2 |
| Diaphragmatic weakness 0.5262611066746234 0.6853431103222382 0.4931274339402258 1.0 1.0 5 Q9NR77 1 |
| Suicidal ideation 0.7643354847587205 0.6839553781607552 0.4940033431695907 1.0 1.0 3 P42858 1 |
| Aplasia hypoplasia of the clavicles 0.3965156321508561 0.683318263964521 0.4944057557566435 1.0 1.0 15 O75419,P41227,Q9Y619,O75844 4 |
| Recurrent pneumonia 0.3790454967037183 0.6807321078147566 0.4960410160336028 1.0 1.0 19 Q9BTW9,Q9BV10,Q13432,P78318,Q96HA7 5 |
| Abnormal mitochondria in muscle tissue 0.3754980121188911 0.6807112184361035 0.4960542363991802 1.0 1.0 20 O75306,O43676,Q96CU9 3 |
| Abnormal blood sodium concentration 0.4199104144941527 0.6785522306140894 0.4974216190152711 1.0 1.0 11 Q13423 1 |
| Abnormal ossification involving the femoral head and neck 0.5609369974497682 0.675403038771982 0.4994197353945813 1.0 1.0 4 Q14739 1 |
| Abnormal circulating citrulline concentration 0.7613919440360499 0.6743284081290757 0.5001025470373872 1.0 1.0 3 Q9Y619 1 |
| Ovotestis 0.7765590723911069 0.6737991622357543 0.5004390075511631 1.0 1.0 2 P53701 1 |
| Osteoporosis 0.3065561083662724 0.6737274826011225 0.500484586082943 1.0 1.0 59 O75845,P10644,Q96L58,Q9Y5L0,P16278,Q9HC07,P12235,Q13510,Q9HC21,Q8WVQ1,Q9BUR4,Q9Y4P3,O95202 13 |
| Abnormal blistering of the skin 0.3560051941861778 0.6726963089908398 0.5011405162658844 1.0 1.0 24 Q06136,Q9H1A4,Q9BUR4,Q9NZ08,P51798 5 |
| Bifid ribs 0.5598602796072751 0.671040819533621 0.5021945259210079 1.0 1.0 4 Q9UM00 1 |
| Abnormality of the pituitary gland 0.2932864451027753 0.6702158374402026 0.5027202093236554 1.0 1.0 63 P10644,Q9UHX1,P16435,O76024,Q4J6C6,Q06787,O75874,P33991,Q9UM00,P48735,Q07864,Q03164 12 |
| Abnormal mitral valve physiology 0.3463261022180366 0.6696828410997449 0.503059992310706 1.0 1.0 39 Q96L58,P06280,P53701,O75844,O75306,Q5T2R2,Q9Y4P3,P04062,Q9NZ08 9 |
| Abnormality of the intrahepatic bile duct 0.7589137907129395 0.6662513986415778 0.5052504248996987 1.0 1.0 3 Q9Y5L0 1 |
| Abnormality of globe size 0.3088815033950298 0.6659831188209753 0.505421890572338 1.0 1.0 58 Q02252,P21964,Q9UHX1,Q15125,P41227,Q9NX14,P53701,P07437,O43505,O15360,Q08AM6,Q9Y5P6,Q9H2M9,Q96RT7,P52732,Q15058,O15111,P18074 18 |
| Progressive spasticity 0.3880111018176799 0.663215224959602 0.5071927219330576 1.0 1.0 16 P07602,P17900,P43034,O60313,O43681,Q9NZJ7 6 |
| Pollakisuria 0.5576084356924157 0.6619378594450241 0.5080110471360499 1.0 1.0 4 Q06787 1 |
| Abnormal scapula morphology 0.3258522204559745 0.6554382327866671 0.5121856424293729 1.0 1.0 51 Q9Y5L0,Q9Y487,Q9Y619,P50402,P16435,O60313,Q14739,Q9Y5P6,Q9UM00,Q9BTV4 10 |
| Cavernous hemangioma 0.5192380861410474 0.6549337439897013 0.512510413304778 1.0 1.0 5 Q15437,P21912 2 |
| Ectopic anus 0.3809539037266255 0.6547440266226413 0.512632573967573 1.0 1.0 17 Q9NX14,P53701,P16435,P49748,O60826,Q15022 6 |
| Abnormal cardiac test 0.3752534678017352 0.6541896712363748 0.5129896151686846 1.0 1.0 19 Q96RR1,P10253,P49748,P12235,Q9Y5P6 5 |
| Limited hip movement 0.4047544312303937 0.6528781932214848 0.5138348084545301 1.0 1.0 12 O75844 1 |
| Choking episodes 0.7699780633030509 0.651845469371658 0.5145008657841896 1.0 1.0 2 P42858 1 |
| Nasal regurgitation 0.7699780633030497 0.6518454693716539 0.5145008657841923 1.0 1.0 2 Q9BUF5 1 |
| Spinal deformities 0.7699780633030482 0.6518454693716491 0.5145008657841954 1.0 1.0 2 Q9Y5P6 1 |
| Polyhydramnios 0.3296473305318163 0.6514644231965077 0.514746735582774 1.0 1.0 49 P21964,Q15125,Q9BV10,Q13724,P43034,Q9NVI7,O75844,Q70HW3,Q14739,Q9UBM7,Q9UM00,P04062,P51798 13 |
| Abnormality of the endometrium 0.4440268237518472 0.649844261771558 0.51579282498953 1.0 1.0 9 Q07864,Q15437,P21912,P20585 4 |
| Blurred vision 0.7531468464114615 0.6475569783249486 0.517271530602708 1.0 1.0 3 O75306 1 |
| Mitochondrial inheritance 0.7524967081231557 0.6454585909591902 0.5186300446789409 1.0 1.0 3 P00403 1 |
| Bilateral cleft palate 0.752262774074216 0.644704005733011 0.5191190199519518 1.0 1.0 3 Q12959 1 |
| Non midline cleft palate 0.752262774074216 0.644704005733011 0.5191190199519518 1.0 1.0 3 Q12959 1 |
| Peripheral demyelination 0.3793984631936029 0.6443881260332606 0.5193237823500993 1.0 1.0 17 P07602,Q9NR77 2 |
| Cerebral calcification 0.3477248591690473 0.6443041035204586 0.5193782552027928 1.0 1.0 32 O75845,P56377,P23786,P53634,O00584,O60313,Q16625,Q9BUR4,P05067,P00403 10 |
| Generalized myoclonic seizure 0.3424333643143071 0.6430197070773888 0.5202113125431904 1.0 1.0 40 P07602,P16278,Q13510,P04062,Q9NZJ7 5 |
| Spondyloepimetaphyseal dysplasia 0.4792559523502819 0.6418029125531954 0.5210011583193874 1.0 1.0 7 O95831,Q96L58,Q96HA7 3 |
| Myalgia 0.3432982187863917 0.64177389612071 0.5210200010044135 1.0 1.0 39 Q96RR1,P23786,P06280,P49748,P46020,O60313,Q14739,P12235,Q06787,Q9NZ08 10 |
| Abnormal exteroceptive sensation 0.3199893050412509 0.641699719323918 0.5210681715126557 1.0 1.0 53 O95831,P54802,P07602,P06280,Q8NCH0,Q9NZ08,Q9NR77,Q9NZJ7 8 |
| Dry skin 0.34764496324938 0.6415185279862167 0.5211858470436972 1.0 1.0 29 P51648,Q06136,Q2TAA5,P37268,P04066,Q6PGP7,P52732,P11802,P18074 9 |
| Impaired tactile sensation 0.479167645762574 0.6413925421729151 0.5212676771605875 1.0 1.0 7 Q9NR77 1 |
| Gastric ulcer 0.5522036436780989 0.6402043626735043 0.5220397468881794 1.0 1.0 4 P04062 1 |
| Bradycardia 0.4025147252041288 0.639848680649678 0.5222709805703343 1.0 1.0 12 P47985,Q96RR1,O43772,O75208,Q9BTV4 5 |
| Mixed demyelinating and axonal polyneuropathy 0.7498188393954016 0.6368354749728101 0.524232016050638 1.0 1.0 3 P00403 1 |
| Aplasia hypoplasia involving the sinuses 0.5511376497207292 0.6359376512755417 0.5248170608470284 1.0 1.0 4 P10644 1 |
| Abnormal muscle glycogen content 0.514764461744265 0.6357052911542516 0.5249685270609261 1.0 1.0 5 P46976,O75648 2 |
| Petechiae 0.4014735360820879 0.6338049665092396 0.5262081115798625 1.0 1.0 12 P10644,P51798,P04062 3 |
| Malabsorption 0.319176451345575 0.6329194478873433 0.5267862470807776 1.0 1.0 53 O75381,Q9Y4P3,Q9UJW0,Q14566,P06280,O76024,P09601,Q14739,P42345,Q9BUR4,P18074,Q9NZ08,Q96A33 13 |
| Abnormal circulating fatty acid anion concentration 0.3970205069029898 0.6299930836681021 0.5286991093617013 1.0 1.0 13 P23786,O43772 2 |
| Congenital nonbullous ichthyosiform erythroderma 0.5133610171212165 0.62969709911439 0.528892780875315 1.0 1.0 5 P04062,P18074,P19447 3 |
| Hypertriglyceridemia 0.3555653384399175 0.6286499354837058 0.5295782609599442 1.0 1.0 23 P22830,P50402,O95470,P31751,P28070,Q9UJS0,Q9BTV4 7 |
| Delayed ability to sit 0.3877671717345166 0.6282313270814153 0.5298524110448584 1.0 1.0 15 P10253,Q10471,P43034,Q9H2M9,Q10713,Q9UID3 6 |
| Abnormality of temperature regulation 0.323394022470007 0.6249904456502171 0.531977328845481 1.0 1.0 103 Q14C86,P23786,P49748,P51572,Q9HC07,Q14739,Q9HC21,Q9NZ08,Q5XKP0,P35610,O43772,P06280,P18074,P51798,P28070,Q9NR77,Q9NZJ7,P47985,Q2TAA5,Q8N1F7,P07602,P38571,P00403,Q9NR50,P10644,P49770,P10253,Q7Z5L9,Q13510 29 |
| Blue irides 0.4575725087915679 0.6248526086970825 0.532067798698276 1.0 1.0 8 P10644 1 |
| Supernumerary spleens 0.4387269188400878 0.6226738297821391 0.5334988836137815 1.0 1.0 9 O95202 1 |
| Large for gestational age 0.4386079011095435 0.6220658498588805 0.5338985692743647 1.0 1.0 9 P31751,Q9UM00 2 |
| Abnormality of the anterior fontanelle 0.3446510353820583 0.6200476283341718 0.535226430433577 1.0 1.0 33 O75381,Q9Y487,Q15125,Q9Y619,P16435,Q32P28,O15111,P42345 8 |
| Abnormal platelet volume 0.4374368982573383 0.6160892789454419 0.5378355975411881 1.0 1.0 9 Q14739 1 |
| Abnormality of earlobe 0.353920831598052 0.6159629368530166 0.537918981655165 1.0 1.0 23 Q7LGA3,P21964,P11274,P53701,P16435,Q15392 6 |
| Absent eyebrow 0.473424821295436 0.6148029947761776 0.5386848312999644 1.0 1.0 7 O75844 1 |
| Abnormal brain lactate level by mrs 0.4180099864397466 0.6122881639814242 0.5403471192173321 1.0 1.0 10 P00403,O75306,P21912 3 |
| Visual fixation instability 0.7420190831964572 0.6119076575094363 0.5405988549616716 1.0 1.0 3 Q13510 1 |
| Abnormal cervical spine morphology 0.5089757077582322 0.6110007324216283 0.5411990954344912 1.0 1.0 5 Q8NCH0 1 |
| Ankyloblepharon 0.5089414290870684 0.6108550607088385 0.541295538008846 1.0 1.0 5 P41227,O15111,P18074 3 |
| Abnormality of the hallux 0.3011825919019096 0.6103346100670496 0.5416401746572075 1.0 1.0 59 P10644,Q96L58,Q7LGA3,Q9UHX1,Q15125,Q8WVQ1,Q9Y4P3,P04062,O95202 9 |
| Decreased activity of mitochondrial complex i 0.3431750189935408 0.6103279717172805 0.5416445712061806 1.0 1.0 34 O43676,Q96CU9,Q70HW3,Q9UBX3 4 |
| Myotonia 0.4723922215393935 0.6100431714421192 0.5418332099117857 1.0 1.0 7 P50402 1 |
| Abnormality of hair texture 0.3120616080666774 0.608902853041838 0.542588833035186 1.0 1.0 55 P62266,P54802,Q9Y487,Q15125,Q9NVI7,O75844,P15586,Q9UM00,P51798,Q96A33 10 |
| Amelogenesis imperfecta 0.740810308828157 0.6080703140327803 0.5431408400457423 1.0 1.0 3 Q9HC07 1 |
| External ear malformation 0.379422578123875 0.6078412474559509 0.5432927694884131 1.0 1.0 16 O75381,P41227,P07437,Q8NCH0,O15360 5 |
| Scapular winging 0.3476694757640366 0.6062972608267994 0.5443173772181646 1.0 1.0 24 Q9Y5L0,Q9Y487,P50402,O60313,Q9Y5P6,Q9BTV4 6 |
| Polymicrogyria 0.2968163359670631 0.6038208308083564 0.5459627685955595 1.0 1.0 73 O75381,P23786,Q9Y487,Q6ZXV5,Q9NZ01,Q01105,O95721,P07437,O43505,Q9BVA1,Q9Y5P6,Q9H2M9,Q16625,Q10713,Q96EK5,P42345,Q15392 17 |
| Abnormality of the musculature of the upper arm 0.470710588253257 0.6023059636528179 0.5469704918723601 1.0 1.0 7 P50402,Q8WXH0,O14979,Q9BTV4 4 |
| Proximal upper limb amyotrophy 0.470710588253257 0.6023059636528179 0.5469704918723601 1.0 1.0 7 P50402,Q8WXH0,O14979,Q9BTV4 4 |
| Nail dysplasia 0.3423532839893525 0.5980157752923154 0.5498294070973315 1.0 1.0 32 P10321,Q9Y619,P16615,O95202,Q9H1A4,Q9BUR4,P42892 7 |
| Abnormality of tibia morphology 0.3911724545465861 0.5953992570080623 0.5515766220570038 1.0 1.0 13 Q9BV10,O95831,P16435 3 |
| Abnormal head movements 0.391000397792869 0.5943861431218921 0.5522538743590091 1.0 1.0 13 P41227,Q96RL7,P35637,Q06787,Q99720 5 |
| Abnormality of the foot musculature 0.7518019429645918 0.5924336810263614 0.553560217935694 1.0 1.0 2 O14979 1 |
| Atrophy degeneration involving the caudate nucleus 0.5400509122680749 0.5919747441726635 0.5538675006919658 1.0 1.0 4 Q96RL7 1 |
| Abnormal periventricular white matter morphology 0.3374359725713795 0.5880753096890154 0.5564817448284238 1.0 1.0 39 Q9UHX1,P07602,O75503,O95202,Q9NZJ7 5 |
| Abnormal c peptide level 0.5034298902436842 0.5875322091761305 0.5568463249789266 1.0 1.0 5 O00330,Q16836,A5YKK6 3 |
| Abnormal labia majora morphology 0.3897012409655498 0.586745405912761 0.5573747077017428 1.0 1.0 13 O75419,Q9Y619,P16435,Q9H2M9 4 |
| Meningocele 0.4495699410897186 0.5861966530577878 0.5577433706001236 1.0 1.0 8 O75845,Q9Y5P6,Q10713 3 |
| Gastritis 0.5029326796561616 0.5854381184325912 0.5582531642695989 1.0 1.0 5 Q6PGP7,P50851 2 |
| Dermal translucency 0.4493857072587449 0.585311966925066 0.5583379697613484 1.0 1.0 8 O75844 1 |
| Hip subluxation 0.4492889243768874 0.5848473164538255 0.5586503855623466 1.0 1.0 8 Q96L58,Q96HA7 2 |
| Telangiectasia of the skin 0.3651879919193567 0.5843945261429162 0.5589549086663275 1.0 1.0 19 P06280,Q8IZA0,Q14739,Q9BUR4,P18074,Q07864 6 |
| Profound global developmental delay 0.3805130975596386 0.5830665611415214 0.5598484931649022 1.0 1.0 15 O75381,P55011,Q9Y4R8,P37268,Q9H490,O60313,P08243,Q9GZY8,Q9H3S7 9 |
| Chorioretinal hypopigmentation 0.7486681291131465 0.5823840533252469 0.5603080204050104 1.0 1.0 2 Q9Y619 1 |
| Abnormal blood inorganic cation concentration 0.3393054707578821 0.5803070306027487 0.5617075871119348 1.0 1.0 35 Q15043,P10644,P21912,O00443,Q9BV10,Q4J6C6,Q9Y4P3,P51798 8 |
| Respiratory failure requiring assisted ventilation 0.4664187761410727 0.5776898700849893 0.5634735194947185 1.0 1.0 6 P10253,O75648 2 |
| Abnormality of the plantar skin of foot 0.3352320940164283 0.576464175007247 0.5643014779953286 1.0 1.0 40 Q06136,P21912,Q9Y487,P16615,P53634,O95721,Q9BUR4,P42167,P42345 9 |
| Abnormal ilium morphology 0.366621029995409 0.5753727753734648 0.5650392123364067 1.0 1.0 18 O95831,P16278 2 |
| Bilateral sensorineural hearing impairment 0.3383295884482968 0.5744307927983567 0.5656763204527626 1.0 1.0 25 Q96RR1,P55011,P07602,O43681,P00403,P18074,Q15067,Q9NZJ7 8 |
| Recurrent skin infections 0.3835185097735138 0.5740143464446958 0.5659580930952255 1.0 1.0 14 P02786,Q8NCH0,P53634 3 |
| Distal upper limb amyotrophy 0.3873051829549734 0.5726962724118928 0.5668503618014582 1.0 1.0 13 P07196,Q9BQT8,Q15120,Q9NR77 4 |
| Abnormal response to endocrine stimulation test 0.7290379956102601 0.5710803692221467 0.5679451648681964 1.0 1.0 3 Q13423 1 |
| Pneumonia 0.3133599704632566 0.5704244116746522 0.5683898762814856 1.0 1.0 53 Q9BV10,P16278,P49748,Q13510,Q13432,P04062,Q96HA7 7 |
| Abnormal nephron morphology 0.3004028974831265 0.5678478552340731 0.5701382818791578 1.0 1.0 58 P23786,P21912,P06280,O95470,Q14108,O75306,P00403,Q9Y4P3,Q9NZ08 9 |
| Dilatation of the ventricular cavity 0.7439674083359553 0.5674229924706223 0.5704268323065425 1.0 1.0 2 Q9Y5P6 1 |
| Dilation of virchow robin spaces 0.7439674083359512 0.5674229924706082 0.570426832306552 1.0 1.0 2 P43034 1 |
| Abnormal morphology of the radius 0.381776659446898 0.563562834728209 0.573051685992787 1.0 1.0 14 Q9BV10,P10644,Q96L58 3 |
| Muscle fiber inclusion bodies 0.4269603625606805 0.5630731667036092 0.573385062570904 1.0 1.0 9 O43676,Q9Y5P6 2 |
| Tracheal stenosis 0.5324175246096636 0.562174600510036 0.5739970649573154 1.0 1.0 4 Q15125,Q9UBM7 2 |
| Macrogyria 0.4973278329575021 0.5619511743847935 0.5741492857613371 1.0 1.0 5 Q15392 1 |
| Hip dysplasia 0.3167498701061432 0.5601224486431186 0.5753959193736549 1.0 1.0 51 Q96L58,Q7LGA3,Q9UHX1,Q15125,Q15907,P42858,O95202,Q96A33 8 |
| Bone marrow foam cells 0.7253918495297844 0.5597700741775724 0.5756362782606028 1.0 1.0 3 P61916,P38571 2 |
| Progressive microcephaly 0.3270902095588799 0.5573416234956752 0.5772940421417276 1.0 1.0 45 Q15043,O75419,Q01433,Q5KU26,Q9Y487,Q9BV10,O95721,P43034,P50897,Q9HC21,Q9BT22,Q8WVX9,Q9NXE4 13 |
| Transient ischemic attack 0.4607860567690114 0.5570277700249864 0.577508455873482 1.0 1.0 7 O75844 1 |
| Retrognathia 0.3007051285722177 0.5566276530773818 0.5777818561582762 1.0 1.0 82 O75419,Q7LGA3,Q9UHX1,Q2TAA5,O00443,Q15125,Q9Y619,Q13724,P53701,Q4J6C6,O75844,Q8NCH0,Q8WVQ1,Q16625,P04062,P18074,P78318,Q15392 18 |
| Recurrent viral infections 0.3845189760426585 0.5564320996452308 0.5779155001581069 1.0 1.0 13 Q13432 1 |
| Myoclonic seizure 0.3142319067981091 0.5560022268377613 0.5782093324720972 1.0 1.0 52 P07602,O75503,P16278,Q13510,P04062,Q9NZJ7 6 |
| Limitation of joint mobility 0.3096550834577332 0.5545991250381773 0.5791688876361061 1.0 1.0 93 P51648,Q7LGA3,P23786,P50402,P16278,O75874,Q9HC21,Q96L58,P54802,P16435,O95155,P15586,Q9H2M9,P48735,P18074,Q9BT22,Q96HA7,P37268,O76024,O75844,Q96AY3,Q9BTV4,O00443,Q8NBU5,Q9Y4P3 25 |
| Multiple enchondromatosis 0.4612408910152792 0.5544185317215169 0.5792924463253857 1.0 1.0 6 O75874 1 |
| Sleep wake cycle disturbance 0.4947086931823778 0.5510531357469258 0.5815972500004583 1.0 1.0 5 Q9Y4R8,Q9UBM7 2 |
| Abnormality of the antitragus 0.7213853307280716 0.5474254097875486 0.5840865022638353 1.0 1.0 3 Q92643 1 |
| Hallux valgus 0.3645692412330637 0.5468631759379228 0.584472736133288 1.0 1.0 17 Q9Y4P3,P04062 2 |
| Hemiparesis 0.3784856662886235 0.5439046778987763 0.5865070697366159 1.0 1.0 14 P00403,Q9NZ08,Q9BVA1,P42345 4 |
| Middle age onset 0.4050911657544562 0.5435362596112315 0.5867606325591326 1.0 1.0 10 P07602 1 |
| Abnormal systemic blood pressure 0.2987841275679541 0.54335530908015 0.586885189836726 1.0 1.0 81 Q9Y5L0,P28288,Q06787,P35610,Q13423,P21964,O43772,P06280,P16435,Q9NZJ7,P07602,P49366,P38571,O75844,P00403,P42892,P10644,P21912,O43681,Q10713,P40818,Q9Y4P3,P04062 23 |
| Agitation 0.3349982604885589 0.5426527229049812 0.5873689310184211 1.0 1.0 35 P35610,P48449,P10644,Q14203,P42892,Q15165,Q9UHD9,Q92804,P42858,P52732,P04062,P05067 12 |
| Progressive visual loss 0.3524902344719227 0.5421266554985911 0.5877312571438731 1.0 1.0 21 O75503,O75306,P50897 3 |
| Cupped ribs 0.4584575850000167 0.5419913125867664 0.587824490571339 1.0 1.0 6 O95831 1 |
| Hypermetric saccades 0.7195899791883326 0.5419226611721503 0.5878717849619917 1.0 1.0 3 Q9NW15 1 |
| Abnormal heart valve physiology 0.3026577274961576 0.5394463423140945 0.58957891176873 1.0 1.0 86 P10644,Q96L58,Q9UHX1,Q15904,Q15125,P16278,O75844,O75306,Q9Y4P3,P04062,Q9NZ08 11 |
| Waddling gait 0.3342362618766023 0.5371935502794353 0.5911339259511337 1.0 1.0 26 P50402,Q4J6C6,Q13510,Q9Y5P6,Q8WVQ1,Q9BTV4 6 |
| Knee flexion contracture 0.3341967568951736 0.5368733972637271 0.5913550679942157 1.0 1.0 26 Q7LGA3,P21912,P23786,P37268,Q86XL3,Q9Y5P6 6 |
| Abdominal pain 0.2999104723692517 0.5364967947826919 0.591615250518498 1.0 1.0 83 Q13423,P10644,P23786,P21912,P06280,Q14108,Q9NZ08,Q70HW3,Q9Y4P3,P04062,P42892 11 |
| Limb girdle muscular dystrophy 0.4390075048349265 0.5358929230818594 0.592032555753597 1.0 1.0 8 P50402,O14979,Q9BTV4 3 |
| Supernumerary nipple 0.377077451077152 0.5355297241142272 0.5922836092718717 1.0 1.0 14 Q7LGA3 1 |
| Rib fusion 0.3940074620329475 0.5347590474614421 0.5928164847496453 1.0 1.0 11 O95202 1 |
| Upper limb undergrowth 0.35489681271263 0.5346826475844956 0.5928693225336172 1.0 1.0 20 Q9BV10,Q14739 2 |
| Motor deterioration 0.4903626909598664 0.5330837297002408 0.5939756213229659 1.0 1.0 5 O75503 1 |
| Generalized hypopigmentation of hair 0.4029846901933301 0.5324687218511943 0.5944013994632258 1.0 1.0 10 Q9BUR4,P10644 2 |
| Secondary microcephaly 0.2952008631809906 0.5305802682411037 0.595709672133435 1.0 1.0 78 O75419,Q9BTW9,Q15043,O95721,Q9HC07,P50897,Q9HC21,Q5XKP0,Q5KU26,Q9UHX1,Q9H2M9,Q9GZY8,Q9BT22,Q9NXE4,Q01433,Q9Y487,Q9BV10,P43034,O75208,Q9NR50,Q8WVX9,P49770,P00374,Q96CU9 24 |
| Corpus callosum atrophy 0.3716563995118823 0.528665448536236 0.5970375496571434 1.0 1.0 15 O75503,O60313,P51572 3 |
| Stroke like episode 0.48925692360551 0.5285350932979209 0.5971279965491454 1.0 1.0 5 P00403 1 |
| Fat malabsorption 0.4192100770905943 0.5244337285757619 0.5999769023774051 1.0 1.0 9 Q14739,Q96A33 2 |
| Fatigue 0.2969011786368682 0.5202270481151586 0.6029053353004303 1.0 1.0 81 Q13423,P10644,Q96RR1,P21912,Q9Y5L0,P07602,P06280,Q4J6C6,Q15165,Q70HW3,Q14739,P12235,Q9UHD9,P04062,Q9NZ08,Q9NZJ7 16 |
| Optic neuropathy 0.3493901966145993 0.5199632409007736 0.6030891958805054 1.0 1.0 21 Q9P0J0,O43676,Q96CU9 3 |
| Thyroid adenoma 0.5212255159234118 0.5192463437923237 0.6035889650791053 1.0 1.0 4 P10644 1 |
| Brachydactyly 0.2890905315593476 0.5188297431318295 0.6038794746468121 1.0 1.0 72 P48449,O95831,P10644,P21912,Q9UHX1,Q06136,P16435,Q14739,Q8WVQ1,Q96HA7 10 |
| Nonprogressive 0.4532131979085774 0.5187403086408079 0.6039418484963086 1.0 1.0 6 Q9BUF5,Q10713 2 |
| Abnormality of primary teeth 0.3576292637505839 0.5156102340769679 0.6061266610656539 1.0 1.0 18 O75844,P51798 2 |
| Cerebral white matter atrophy 0.3447695315866035 0.5140614113080952 0.6072090556020011 1.0 1.0 22 O75503,Q2TAA5,P51572 3 |
| Abnormal thalamic size 0.7267314321529422 0.5137957514334602 0.607394798635025 1.0 1.0 2 Q9Y5P6 1 |
| Motor neuron atrophy 0.3446086734078303 0.5128847514618686 0.6080319405269781 1.0 1.0 22 Q99720,Q13510 2 |
| Early onset of sexual maturation 0.3238169184289305 0.5127928432443394 0.6080962365175702 1.0 1.0 44 Q13423,Q7LGA3,O75874,P42858,Q9Y4P3,P48735,O95202,Q96HA7 8 |
| Abnormality of adrenal physiology 0.3320755476475369 0.5105715791271513 0.6096510811238063 1.0 1.0 32 Q13423,P10644,O75381,O95470,P33991 5 |
| Abnormality of the posterior pituitary 0.4502451737807208 0.5097332976349892 0.610238321845648 1.0 1.0 7 Q9UHX1 1 |
| Nuclear cataract 0.5187094663943714 0.5097297239594871 0.6102408258474161 1.0 1.0 4 Q99797,O76024 2 |
| Joint hemorrhage 0.7239109996866359 0.5052142502404338 0.6134083625179301 1.0 1.0 2 P38435 1 |
| Abnormal motor nerve conduction velocity 0.3534141749170081 0.5042272048128398 0.6141017251736316 1.0 1.0 19 Q99720 1 |
| Abnormality of skin physiology 0.3030227908600378 0.5034941246083392 0.6146169101230805 1.0 1.0 90 P22830,Q9Y5L0,P02786,P49748,Q14739,Q9NZ08,Q96A33,Q15800,P21964,Q15125,P16615,P18074,P28070,Q92542,P10321,P38571,Q8NCH0,P52732,Q07864,P48449,Q06136,P21912,P53634,Q7Z5L9,Q9UBM7 25 |
| Sparse eyelashes 0.3503284661863141 0.5029911124229761 0.6149705207798095 1.0 1.0 20 O75844,P48449,Q9UM00 3 |
| Contractures involving the joints of the feet 0.3470025521769981 0.5029863867381379 0.6149738432957057 1.0 1.0 21 O60313,Q8N2K0,P50402,Q8IZA0 4 |
| Decreased circulating antibody level 0.3227330748631872 0.5025520861549346 0.6152792233471827 1.0 1.0 44 Q96HA7,Q15904,Q9UJW0,Q9BV10,P02786,Q13724,Q7Z5L9,Q6PGP7,P09601,P50851,P18074,P42345,Q9UJS0,Q9NRZ9 14 |
| Diaphragmatic eventration 0.7064663684748373 0.5022674033029076 0.6154794353120712 1.0 1.0 3 P08243 1 |
| Abnormal b cell morphology 0.3879198135302614 0.5018722639944726 0.6157573766191726 1.0 1.0 11 Q13432 1 |
| Abnormal iris pigmentation 0.3529157199838664 0.5008741132527921 0.6164597220767662 1.0 1.0 19 O75381,P10644 2 |
| Prominent forehead 0.2927257827679018 0.5002328259859935 0.6169111470817765 1.0 1.0 78 P56377,Q7LGA3,P23786,Q9UHX1,O75648,Q96L58,Q92643,Q6PGP7,P04066,Q14739,Q06787,P52732,P15586,P42858,Q10713,P42345,Q15392,Q96HA7 18 |
| Abnormal urine protein level 0.299620415325933 0.4994508174954571 0.6174618267649237 1.0 1.0 56 Q14C86,P21912,P06280,O95470,Q14108,P09601,P00403,Q9Y4P3,P04062 9 |
| Bruxism 0.4475588352053841 0.4978249014241951 0.6186074629470126 1.0 1.0 7 Q96RL7 1 |
| Abnormal shape of the frontal region 0.3168364750853077 0.4967842159011433 0.6193412270806276 1.0 1.0 108 P16278,P13073,P04066,Q14739,Q06787,O95202,P42345,Q15067,Q96L58,Q15125,P16435,O95155,P15586,P51798,Q15392,Q96HA7,Q9Y487,P43034,Q07864,Q02252,Q9Y619,Q4J6C6,Q9NVI7 23 |
| Short ribs 0.377037777840737 0.4948695244269311 0.6206922241491921 1.0 1.0 12 Q9BV10,Q14739 2 |
| Abnormality of the intrinsic pathway 0.3737699188451789 0.4944879478660503 0.6209616158968472 1.0 1.0 13 Q9BV10,Q9Y487 2 |
| B lymphocytopenia 0.4300131716119044 0.4937888828684881 0.6214552852510442 1.0 1.0 8 Q13432 1 |
| Aplasia involving bones of the extremities 0.5143443424134659 0.4933426038352239 0.6217705300451248 1.0 1.0 4 Q8NCM8,Q08AM6 2 |
| Abnormality of dental color 0.7033458657490395 0.4929913791478233 0.6220186786938016 1.0 1.0 3 P16278 1 |
| Insulin resistant diabetes mellitus 0.4120859822345099 0.4894084038919223 0.6245525875353592 1.0 1.0 9 O75844 1 |
| Abnormal skin morphology of the palm 0.3025099070333191 0.4872993741674163 0.626046191161872 1.0 1.0 91 O75381,Q06136,P21912,Q9UHX1,P62266,Q9Y487,P16615,Q15907,O95721,Q8NCH0,Q14739,Q9BUR4,P42167,O95202 14 |
| Abnormality of the phalanges of the hallux 0.5118583361081527 0.4840818442420458 0.628327785786069 1.0 1.0 4 Q8WVQ1 1 |
| Abnormal palmar dermatoglyphics 0.2872392018748362 0.481229845822864 0.630353150932019 1.0 1.0 60 O75381,P62266,Q9UHX1,Q9Y487,Q15907,Q8NCH0,O95202 7 |
| Congenital hip dislocation 0.3315225604867717 0.4801759748737533 0.6311022687340231 1.0 1.0 24 Q9UHX1 1 |
| Abnormality of circulating enzyme level 0.3059703887507013 0.480062857259683 0.631182698105794 1.0 1.0 96 Q9BTW9,P23786,P50402,P49748,Q9HC07,O43505,Q9NWM8,Q96RL7,Q96RR1,O43772,Q9BPX6,Q6ZXV5,P53985,Q9Y5P6,P47985,O95831,P13473,P12235,P42167,Q9BTV4,P07196,O75648,P10253,P46020,Q5JRX3,Q15120,Q9Y4P3 27 |
| Synostosis of metacarpals metatarsals 0.7151363209025553 0.4788857443291874 0.632019913058457 1.0 1.0 2 P16435 1 |
| Ventricular escape rhythm 0.4767364042460079 0.4777367846365758 0.6328375594581201 1.0 1.0 5 P50402 1 |
| Amyotrophic lateral sclerosis 0.3581496545414123 0.4740916983061674 0.6354345183054173 1.0 1.0 16 Q15165,Q99720,Q9UHD9,Q92804 4 |
| Astrocytoma 0.4083547907608397 0.4712690521727887 0.6374486129995574 1.0 1.0 9 P48735,O75874 2 |
| Neoplasm of the male external genitalia 0.39097359932899 0.4702396644967886 0.6381837987545524 1.0 1.0 10 Q13423 1 |
| Genu varum 0.3724481690785967 0.4695109472096514 0.6387044617945328 1.0 1.0 12 Q9H1A4,Q9Y619,Q8WVQ1,Q96HA7 4 |
| Recurrent hand flapping 0.6946297693651033 0.4674103204432888 0.6402063401797404 1.0 1.0 3 Q06787 1 |
| Agnosia 0.4411598392613932 0.4661875797861511 0.6410812388088933 1.0 1.0 6 P05067,O96008 2 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.4407327219237142 0.4643496235133235 0.6423972763172061 1.0 1.0 6 P50402 1 |
| Impaired glucose tolerance 0.4406728582791819 0.4640921596222229 0.6425817187889586 1.0 1.0 6 O76024 1 |
| Dysmetria 0.3053366222259988 0.4633161544406837 0.6431377681407007 1.0 1.0 52 Q8IV08,Q9NPL8,Q9UBB4,O14773,Q9NW15,O75027,Q8N2K0,O75503,Q6DKK2,Q6P4A7,Q5JRX3,O60313,Q06787,Q10713,Q9Y4P3 15 |
| Decreased specific antibody response to protein vaccine 0.6931034482758697 0.4629818359792459 0.6433773869015493 1.0 1.0 3 Q9BV10,Q13546 2 |
| Abnormal b cell subset distribution 0.693103448275867 0.4629818359792378 0.6433773869015551 1.0 1.0 3 Q7Z5L9,P50851 2 |
| Epiphyseal dysplasia 0.4401252987924043 0.4617387891849826 0.6442686510125677 1.0 1.0 6 Q9HC07,Q96L58 2 |
| Gowers sign 0.3803593160704024 0.46161875252885 0.6443547443620841 1.0 1.0 11 Q13510,Q9Y5P6 2 |
| Joint dislocation 0.2978974326743487 0.4612859370328827 0.6445934730668621 1.0 1.0 88 O75419,Q9BTW9,P55011,O95202,Q96A33,Q96L58,P21964,Q9UHX1,Q6ZXV5,Q15125,Q9Y5P6,Q8WVQ1,P18074,P51798,Q96HA7,Q9Y487,P43034,O75844,Q8NCH0,P10644,Q9Y619,Q8NBU5,Q9UBM7,Q9Y4P3 24 |
| Elevated hepatic transaminase 0.308291171939236 0.4598785598784241 0.6456033902963689 1.0 1.0 101 O75845,P23786,O43772,P10253,Q15904,Q9BV10,Q9Y619,Q2TAA5,P49748,Q8N511,Q9HC07,Q14739,Q13510,P12235,Q16625,Q96RL7,Q15067,Q9UJS0 18 |
| Focal t2 hyperintense brainstem lesion 0.3508635941340933 0.4591131323857832 0.6461529266357888 1.0 1.0 17 O43676,Q96CU9 2 |
| Abnormality of amino acid metabolism 0.7082419304293425 0.4586056131741716 0.6465174050183109 1.0 1.0 2 P18074 1 |
| Flat nasal alae 0.7082419304293425 0.4586056131741716 0.6465174050183109 1.0 1.0 2 P18074 1 |
| Abnormality of the humeroradial joint 0.4049797825749496 0.4549905094684434 0.6491160665704547 1.0 1.0 9 P10644,Q96L58 2 |
| Hepatic fibrosis 0.3252569157082478 0.4542979173111092 0.6496144148850838 1.0 1.0 30 Q9Y5L0,Q15904,P38571,P49748,P28288,Q13510,Q10713,P04062,Q9UJS0 9 |
| Vertebral wedging 0.6900454695693654 0.4541564825825869 0.6497162022317355 1.0 1.0 3 Q8WVQ1 1 |
| Congestive heart failure 0.2929868106834132 0.4541244995051346 0.6497392206292432 1.0 1.0 57 P10644,P21912,P10253,P06280,P16278,O95721,O75306,Q70HW3,P00403,Q9Y4P3 10 |
| Phenotypic variability 0.3092427651040808 0.4523318335215737 0.651029946232806 1.0 1.0 103 O14979,P04350,Q6P4A7,Q9BVA1,Q06787,Q15125,P41227,O95470,Q70HW3,O60313,Q13509,Q8WVQ1,Q9Y5P6,Q9H061,Q9NR77,Q9NZJ7,P07602,P43034,P52732,P00403,Q13885,P07196,P21912,P00374,Q9UBB4,P17900,Q15058,Q13510,Q9BUF5 29 |
| Atrophy degeneration affecting the brainstem 0.369263801921561 0.4520781383856157 0.6512126922426744 1.0 1.0 12 Q9BTW9,Q96RR1,Q13813,O60313,Q13217,Q12756 6 |
| Generalized onset motor seizure 0.3061913262525245 0.4516545000532611 0.6515179013555548 1.0 1.0 51 P07602,P16278,Q13510,P04062,Q9NZJ7 5 |
| Convex nasal ridge 0.3358754487901118 0.449620583772287 0.6529840434858947 1.0 1.0 22 O75844 1 |
| Abnormal astrocyte morphology 0.3581783881117713 0.4477530057057826 0.6543314626752781 1.0 1.0 15 O95831,P48735,O75874 3 |
| Abnormality of the mitochondrion 0.2983521907864284 0.4469494587344023 0.6549115523512246 1.0 1.0 90 O43676,P23786,O43772,P21912,Q9P0J0,P13073,Q9Y2R0,Q4J6C6,P49748,Q70HW3,O75306,P12235,Q9UBX3,Q7KZN9,P00403,Q9GZY8,Q96CU9 17 |
| Sporadic 0.3234446672727181 0.4468009022157935 0.655018819819154 1.0 1.0 27 P21912,P04062,O95202,P04350 4 |
| Abnormal blood ion concentration 0.2779571163492725 0.4466897317408015 0.6550990967900696 1.0 1.0 66 Q15043,Q13423,P10644,P21912,P21964,Q15904,Q9Y487,Q9BV10,O00443,P49748,P28288,O43819,Q4J6C6,Q6PGP7,Q9Y4P3,P51798 16 |
| Gastrointestinal inflammation 0.3385785388379891 0.4438037972758248 0.6571844427732478 1.0 1.0 21 P08183,Q9Y5L0,P49748,Q8NBU5,Q6PGP7,P50851 6 |
| Abnormality of the amniotic fluid 0.2956024911458834 0.4435715315698947 0.6573523919264832 1.0 1.0 87 Q7LGA3,P23786,Q9UHX1,Q96L58,Q9BV10,Q15125,P16435,Q9NVI7,Q9UBM7,O75844,Q70HW3,Q14739,Q9UM00,Q9BT22,P04062,P51798 16 |
| Hammertoe 0.3482988621323993 0.4430003835825409 0.6577654572565643 1.0 1.0 17 Q99720 1 |
| Arnold chiari malformation 0.338365185133702 0.4423204399587643 0.6582573419865101 1.0 1.0 21 Q15043,O75845,P16435,Q9Y4P3 4 |
| Generalized hirsutism 0.3221576659383903 0.4405316883054834 0.6595520666158734 1.0 1.0 26 Q06136,P53634,P07437,O95155,Q9H2M9,Q03164 6 |
| Aplasia hypoplasia of the eyebrow 0.3183567505983521 0.4404852628205752 0.6595856836646021 1.0 1.0 42 O75419,Q9BTW9,P48449,Q15125,Q92643,P41227,Q9NVI7,Q9H1A4,O75844,Q9UM00,Q96EK5 11 |
| Obsessive compulsive trait 0.4672277146400633 0.4400960414963807 0.6598675488390175 1.0 1.0 5 O75503 1 |
| Abnormality of retinal pigmentation 0.2843580165749966 0.4400667638576979 0.6598887529879438 1.0 1.0 74 O75381,P51648,P21912,Q96RT7,Q9P0J0,P53701,O76024,Q96S66,O75306,Q9Y5P6,Q7KZN9,Q9H2M9,P00403,Q13432,P18074,Q15067,Q96CU9,Q6P4Q7 18 |
| Cerebellar malformation 0.2777007111314012 0.4383803368982519 0.661110597917415 1.0 1.0 62 Q15043,O75419,P56377,O75845,P23786,Q9Y487,Q15125,P16435,Q9UBM7,P07437,O43505,Q9Y5P6,Q9Y4P3,Q9UID3,Q96HA7 15 |
| Inappropriate behavior 0.3563747255117669 0.437121568161628 0.6620231863332156 1.0 1.0 15 P07602,P17900,Q9NZJ7 3 |
| Hyperacusis 0.4332324784553328 0.4354255448216786 0.6632535718410777 1.0 1.0 7 P17900 1 |
| Abnormal lymphocyte morphology 0.3224516192982524 0.4348353777068512 0.6636819237687788 1.0 1.0 35 Q9BV10,P16278,O95470,Q7Z5L9,P04066,Q6PGP7,P33991,P50851,Q13432,P28070,Q9NRZ9 11 |
| Inappropriate crying 0.432786975930239 0.4335171441299963 0.6646391138520769 1.0 1.0 7 P07602 1 |
| Sparse eyebrow 0.321862498481739 0.4298518071746339 0.6673034441173695 1.0 1.0 35 Q9BTW9,P48449,Q15125,Q92643,P41227,Q9NVI7,O75844,Q9UM00,Q96EK5 9 |
| Adrenal hypoplasia 0.415916218472553 0.4293658302977715 0.6676570163553064 1.0 1.0 8 O75844 1 |
| Delayed ossification of carpal bones 0.6809789695045021 0.4283697616271441 0.6683819361509475 1.0 1.0 3 Q96HA7 1 |
| Hypoplastic nipples 0.3825334595884984 0.4275076945747565 0.6690095818910533 1.0 1.0 10 Q96A33 1 |
| Cerebral inclusion bodies 0.3583727859944922 0.4266805986741022 0.6696119836337524 1.0 1.0 14 P61916,P05067,P04062 3 |
| Premature birth 0.3133411848365027 0.426531994602413 0.6697202395168445 1.0 1.0 45 O75381,O43676,O75844,P04062,P51798 5 |
| Chorioretinal coloboma 0.4309620896098488 0.4257213034451825 0.6703109368908859 1.0 1.0 7 P41227,Q10713 2 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.6799238400461032 0.4254065699159315 0.6705403174957318 1.0 1.0 3 O75503 1 |
| Recurrent bacterial infections 0.3434294453974286 0.4235613156800058 0.6718857725517544 1.0 1.0 18 P53634,O00165,Q15904 3 |
| Aplasia hypoplasia of the proximal phalanges of the hand 0.6790668673686295 0.4230057917922092 0.6722910353591707 1.0 1.0 3 P42345 1 |
| Foot dorsiflexor weakness 0.3213802441051217 0.4215471400940185 0.6733555962257862 1.0 1.0 32 Q9BQT8,Q99720,Q14739,Q9NR77 4 |
| Abnormality of the biliary system 0.3143952018873407 0.4213394436225388 0.673507231657442 1.0 1.0 113 P22830,Q9Y5L0,P49748,P28288,Q14108,P04066,P09601,Q14739,O95202,Q96A33,Q9UJS0,Q5XKP0,P21964,Q9NZJ7,P47985,O75381,P07602,P38571,P61916,Q6PGP7,Q16625,Q16134,O75845,P10644,P00374,O75648,Q15904,Q9UJW0,Q9UBM7,Q13510,Q10713,Q9Y4P3,P04062 33 |
| Inability to walk 0.2909851574474774 0.4180378601287193 0.6759194364739844 1.0 1.0 84 Q15043,Q96RR1,P21912,O75503,Q96RL7,Q9NVI7,O14949,P12235,Q13510,O15269,P42858,Q9GZY8,Q99720,Q9NR77,Q96CU9 15 |
| Abnormality iris morphology 0.2867071671205589 0.4170676614689336 0.6766289178986509 1.0 1.0 79 O75381,P10644,Q7LGA3,P21912,Q9UHX1,Q9Y4P3,P53701,Q9UBM7,O43505,Q9Y5P6,Q10713,Q96EK5,O95202,Q9NR77,Q96HA7 15 |
| Echolalia 0.38032500574367 0.4164767511268868 0.6770611762304328 1.0 1.0 10 Q9UHX1,Q9UJS0 2 |
| Fasting hyperinsulinemia 0.4606176800954989 0.4144534030476773 0.6785420858330742 1.0 1.0 5 P00367,Q16836 2 |
| Reactive hypoglycemia 0.6922594797869049 0.4130507378962774 0.6795694405862869 1.0 1.0 2 P00367 1 |
| Migraine 0.3266028080092729 0.410669816671132 0.6813146620997317 1.0 1.0 23 Q96RR1,O60313,P12235,P00403,Q9NZ08 5 |
| Hypoproteinemia 0.491465141749121 0.4102485803023064 0.6816236074454849 1.0 1.0 4 P49748 1 |
| Abnormality of upper limb epiphysis morphology 0.3471059909415615 0.4071192638892958 0.6839203954237549 1.0 1.0 16 P10644,O95202,P16435 3 |
| Small hand 0.3193203600274552 0.4046782874075224 0.6857140042398875 1.0 1.0 32 Q9Y619,Q10471,P42858,Q06787,Q8WVQ1,Q13509,Q96EK5,O15111 8 |
| Abnormal urine cytology 0.3180299051236419 0.4042180187558746 0.6860524046467469 1.0 1.0 37 P10644,P06280,Q14108,P09601,P04062 5 |
| Bilateral cleft lip 0.6721003134796294 0.403689237155637 0.6864412551127113 1.0 1.0 3 O15111,Q9NXE4 2 |
| Lactose intolerance 0.67189762266224 0.4031326342931399 0.6868506541971686 1.0 1.0 3 P42345 1 |
| Bowing of the arm 0.4575611023938561 0.4027499419663302 0.6871321898643268 1.0 1.0 5 Q96L58,P16435 2 |
| Xerostomia 0.3502615250332276 0.4014743064035294 0.6880709512432195 1.0 1.0 15 P55011,Q15165,Q14739,Q92804,Q9UHD9 5 |
| Aplasia hypoplasia of fingers 0.2977757820445155 0.4011303409215285 0.6883241635198631 1.0 1.0 94 O95831,Q9UHX1,O00443,P13073,P16435,Q9UBM7,O75844,P51798,Q13510,Q8WVQ1,O95202,Q03164,P38435 13 |
| Hirsutism 0.2828107986176601 0.3987813596440357 0.6900543130672823 1.0 1.0 59 P10644,Q06136,P54802,Q13724,P16278,P16435,P53634,P07437,O95155,P15586,Q9H2M9,P40818,Q03164 13 |
| Abnormality of the tonsils 0.4251581602293348 0.3985907140534487 0.6901948049237225 1.0 1.0 6 P31751,P21964 2 |
| Mask like facies 0.3591760889557375 0.3978063397908873 0.6907729436637524 1.0 1.0 12 P04062,Q06787 2 |
| Cerebral palsy 0.376448860006474 0.3972764652018942 0.6911636004571049 1.0 1.0 10 P48735,O75874 2 |
| Arthropathy 0.4560471656726668 0.3969904759119805 0.6913744838857709 1.0 1.0 5 O15269 1 |
| Iris coloboma 0.3179166750556345 0.3966810202907561 0.6916026979420256 1.0 1.0 35 Q9UHX1,P53701,Q9UBM7,O43505,Q10713,Q96EK5,O95202 7 |
| Abnormality of malar bones 0.2719247860503923 0.395092616497142 0.692774537728456 1.0 1.0 64 O95831,Q96L58,P10644,Q9Y487,Q15125,P16435,Q9HC07,Q14739,Q8WVQ1,Q96HA7 10 |
| Spastic paraparesis 0.3342818435477191 0.3943022239709351 0.6933579215287458 1.0 1.0 20 P21912,Q9Y619,Q6DKK2,P04062,Q8WVX9,Q5XKP0 6 |
| Limb muscle weakness 0.2847864385717731 0.3941108053292846 0.6934992337996078 1.0 1.0 79 Q96RR1,P07196,Q13126,Q9BQT8,P50402,Q96RL7,P12235,Q14739,Q13510,O15269,Q9Y5P6,Q15120,Q99720,Q9NR77,Q15067,Q9BTV4 16 |
| Carcinoma 0.4238816278333626 0.3933167024147184 0.6940855835371709 1.0 1.0 6 Q07864 1 |
| Colorectal polyposis 0.3918345975235325 0.3928636256023963 0.6944202084951743 1.0 1.0 9 Q07864,P21912,P20585 3 |
| Eeg with irregular generalized spike and wave complexes 0.6680852571492618 0.3927217059348374 0.6945250371107088 1.0 1.0 3 Q9NQZ5 1 |
| Self mutilation 0.3670209468734151 0.3924193018577588 0.6947484266298867 1.0 1.0 11 Q9UBM7,Q96RL7,Q9UM00,Q10713 4 |
| Ulnar deviation of the hand or of fingers of the hand 0.3581272878685941 0.3922527327588516 0.6948714845454655 1.0 1.0 12 Q96L58,P11274,Q9UBM7,Q14739,Q9H2M9 5 |
| Psychosis 0.3168572179276994 0.3913000835050199 0.6955754371494614 1.0 1.0 28 Q96RR1,P10644,Q8WVX9,P61916,Q6DKK2,O76024,Q5JRX3,P00403,Q96RL7,Q9UJS0 10 |
| Extrapyramidal muscular rigidity 0.4858726260679002 0.3907199528175186 0.6960042487315081 1.0 1.0 4 Q9BPX6 1 |
| Abnormality of the hypothalamus pituitary axis 0.2750061303219355 0.3900253930133656 0.6965177700209653 1.0 1.0 68 P10644,Q9UHX1,P16435,O76024,Q4J6C6,Q06787,O75874,P33991,Q9UM00,Q10713,P48735,Q07864,Q03164 13 |
| Abnormality of the auditory canal 0.333376201985728 0.3883074352440728 0.6977885355987505 1.0 1.0 20 O75419,Q9Y619,O95202,P16435 4 |
| Abnormal adipose tissue morphology 0.2891180381567774 0.3855272009597487 0.6998468575561574 1.0 1.0 56 P21912,Q2TAA5,Q9Y487,Q9BV10,P41227,P50402,P04066,O75844,Q15437,P52732,P40818,P31751,P42167,P18074,P28070,Q9BTV4 16 |
| Punctate cataract 0.6816045126919583 0.3838794112237193 0.7010678268788737 1.0 1.0 2 P08670 1 |
| Attenuation of retinal blood vessels 0.419795785715946 0.3788069686660968 0.7048312121308236 1.0 1.0 7 P04439,P38435 2 |
| Lower limb pain 0.4821711443931404 0.3779784042784447 0.7054466368686481 1.0 1.0 4 Q96HA7 1 |
| Venous thrombosis 0.3460880959075754 0.3775023785433452 0.70580029710068 1.0 1.0 15 P10644,O75874,P52732,P48735,Q9NZ08 5 |
| Abnormal peripheral myelination 0.3153709227065482 0.3732499896900287 0.7089623936368861 1.0 1.0 31 P07602,Q96RL7,Q9NR77,Q9NZJ7 4 |
| Abnormality of the musculature of the upper limbs 0.2786537357993071 0.3717563300296675 0.7100742805809936 1.0 1.0 74 Q96RR1,P07196,Q9Y5L0,Q9Y487,P07602,P50402,Q9BTV4,Q9BQT8,O60313,P12235,Q9Y5P6,Q9NR77,Q9NZJ7 13 |
| Abnormal circulating sulfur amino acid concentration 0.4028603067567894 0.3716745935964112 0.710135143389889 1.0 1.0 8 Q6PGP7,Q99707,P41440,Q9UJS0 4 |
| Progressive cerebellar ataxia 0.3130221260586255 0.3710774386700017 0.7105798546197286 1.0 1.0 39 Q9Y487,O14773,Q9P0J0,Q9NW15,Q9Y619,O75306,Q7KZN9,Q96CU9 8 |
| Tinnitus 0.3481477907098024 0.3693870579239367 0.7118392432421019 1.0 1.0 14 Q15043,O95831,Q9NR77 3 |
| Broad femoral neck 0.658934169279004 0.3681920437955627 0.7127300424237719 1.0 1.0 3 Q9NUQ7,Q8WVQ1 2 |
| Colitis 0.3864687239990718 0.3681410565127915 0.7127680585934528 1.0 1.0 9 Q6PGP7,P49748 2 |
| Myositis 0.3860870213279804 0.3663975547217837 0.7140684441217604 1.0 1.0 9 Q9NZ08,P28070 2 |
| Speech articulation difficulties 0.4471724196675232 0.3637453410703066 0.7160481819852522 1.0 1.0 5 Q12959 1 |
| Cogwheel rigidity 0.4470145855869152 0.3631623263832826 0.7164836283664529 1.0 1.0 5 P12235 1 |
| Lymphedema 0.3435403358102182 0.3630228242773647 0.7165878344212255 1.0 1.0 15 Q14739 1 |
| Prolonged partial thromboplastin time 0.4155917708512101 0.3615166234266828 0.7177132803928177 1.0 1.0 7 Q9BV10,P38435 2 |
| Aplasia hypoplasia of the breasts 0.3690381187944922 0.3611704106464605 0.717972060225194 1.0 1.0 10 Q9Y619 1 |
| Abnormal bronchus morphology 0.3291342088440061 0.3604521168013797 0.718509058555366 1.0 1.0 20 Q03518,Q13432 2 |
| Abnormal dermatoglyphics 0.275929579615994 0.3598235272235963 0.7189791078407781 1.0 1.0 72 O75381,P62266,Q9UHX1,Q9Y487,Q15907,Q9UBM7,Q8NCH0,Q9Y4P3,O95202 9 |
| Hand muscle weakness 0.3519124639709577 0.3597155504536866 0.7190598618569672 1.0 1.0 12 P07196,Q15120,Q9NR77 3 |
| Bilateral cleft lip and palate 0.6718896897524445 0.3581668577477625 0.7202184478914466 1.0 1.0 2 O15111 1 |
| Concave nasal ridge 0.6548692731367431 0.3575104566235664 0.720709699506735 1.0 1.0 3 Q15125 1 |
| Death in infancy 0.2841006008657134 0.3572501129926501 0.7209045730255532 1.0 1.0 57 O75381,Q15904,P07602,P16278,P49748,Q9HC21,P04062,Q9BT22,Q9NZJ7 9 |
| Neoplasm of the adrenal gland 0.3458419115137383 0.3567174607842113 0.7213033325817411 1.0 1.0 14 P10644,P48735,O75874 3 |
| Immunodeficiency 0.2735680808928842 0.3559714275241452 0.721861963012812 1.0 1.0 61 P21912,P21964,Q9UJW0,Q07864,P02786,P11274,P40818,Q7Z5L9,Q6PGP7,P09601,P50851,Q9BUR4,Q13432,O95202,Q9BT22,Q96A33,Q9NRZ9 17 |
| Skin plaque 0.4449781702655359 0.3556667441455961 0.7220901529106021 1.0 1.0 5 Q06136 1 |
| Gangrene 0.3505341519164825 0.3525889390410708 0.7243966310648822 1.0 1.0 12 P10644,Q9NZ08,P52732 3 |
| Blepharitis 0.3448709517720346 0.3514119278162542 0.7252793352102351 1.0 1.0 14 Q15800 1 |
| Poor head control 0.2742763304395071 0.3504725328012204 0.7259841002410563 1.0 1.0 71 Q9NZJ7,O43676,Q5KU26,P21912,Q9NPL8,P00374,P07602,P06865,Q9P0J0,P13073,P17900,O95721,O75306,Q9Y5P6,Q9NWM8,Q10713,Q96CU9,Q5XKP0 18 |
| Hypertrophic cardiomyopathy 0.30444074512674 0.3492216337754927 0.7269229259905163 1.0 1.0 108 P50402,P16278,P49748,Q7KZN9,Q99797,Q13423,O43676,P54802,P06280,O60313,P15586,Q9H061,P47985,Q9P0J0,P53701,P13473,O75306,P12235,P00403,Q96IX5,P21912,P10253,Q9NVI7,Q9Y4P3,Q96CU9 25 |
| Decreased facial expression 0.3115372291161705 0.3467244850702513 0.7287983135885987 1.0 1.0 29 Q15043,Q96RR1,Q14203,P12235,Q06787,Q9Y5P6,P04062 7 |
| Aortic regurgitation 0.309912307498198 0.3455598798054353 0.7296735017216802 1.0 1.0 26 Q9UHX1,Q6ZXV5,Q6PGP7,O75844,Q5T2R2,Q9NZ08 6 |
| Broad alveolar ridges 0.6501271391228816 0.3452207694854449 0.7299284056919608 1.0 1.0 3 Q9UBM7 1 |
| Flared metaphysis 0.3486445105033856 0.3428734009749808 0.73169370307376 1.0 1.0 12 Q96HY6,Q96L58,Q14739,Q96HA7 4 |
| Synostosis involving digits 0.6490597846893648 0.3424804731866532 0.7319893366443784 1.0 1.0 3 Q9H1A4 1 |
| Optic disc coloboma 0.4110369572322031 0.3413280492108713 0.7328566342219822 1.0 1.0 6 P78318,Q10713 2 |
| Urinary urgency 0.3804304528142735 0.340806048617897 0.7332495966464445 1.0 1.0 9 P04062,Q9UBB4 2 |
| Abnormal forearm bone morphology 0.3233875658119209 0.3404153414558546 0.7335437670349338 1.0 1.0 21 P10644,Q96L58,Q9BV10,P16435,Q32P28,Q9H2M9 6 |
| Increased muscle glycogen content 0.647927075813184 0.3395828862718134 0.734170667832506 1.0 1.0 3 O75648 1 |
| Agenesis of lateral incisor 0.4700684337078614 0.3373935857470826 0.7358202193201311 1.0 1.0 4 Q12959 1 |
| Onychomycosis 0.6470476864677472 0.3373408052211419 0.7358600024373079 1.0 1.0 3 Q9Y5L0 1 |
| Abnormal renal vascular morphology 0.4699296785648808 0.3369382054733286 0.7361634837406592 1.0 1.0 4 P21912 1 |
| Multiple prenatal fractures 0.3947232901461562 0.3368132120001622 0.7362577126988827 1.0 1.0 8 Q14739 1 |
| Aplasia hypoplasia of the nipples 0.3306712973785565 0.3354360427379574 0.7372961830641982 1.0 1.0 17 O95202,Q96A33 2 |
| Abnormality on pulmonary function testing 0.3250687292995848 0.3341206669423542 0.7382885054000288 1.0 1.0 20 Q9BQT8,P16278 2 |
| Abnormal tracheobronchial morphology 0.2884811200396089 0.3327886657727744 0.7392938144680192 1.0 1.0 54 Q96L58,Q9Y4P3,Q15125,P16435,Q03518,Q14739,Q9BUR4,Q13432,Q96HA7 9 |
| Midface retrusion 0.2836252745772527 0.3310200086207355 0.7406293720570436 1.0 1.0 84 O95831,P10644,Q96L58,Q9Y487,Q9BV10,Q15125,P16435,Q9HC07,Q14739,Q9UM00,Q8WVQ1,Q96A33 12 |
| Abnormal macroscopic urine appearance 0.3267356083184671 0.3307207776244707 0.7408554063832 1.0 1.0 19 Q14C86,P23786,Q8N1F7,Q12769,P52565,Q92621 6 |
| Decreased number of large peripheral myelinated nerve fibers 0.4379792249354952 0.3302914150928845 0.7411797790706625 1.0 1.0 5 O15269 1 |
| Inverted nipples 0.3622207685178306 0.3287071882269464 0.7423770205768978 1.0 1.0 10 Q9BV10,Q2TAA5 2 |
| Degeneration of the striatum 0.4669968495691023 0.3273673586971112 0.7433900514923861 1.0 1.0 4 P42858 1 |
| Subependymal cysts 0.6593544343466073 0.3262963283093885 0.7442001659318453 1.0 1.0 2 Q9BSJ2 1 |
| Abnormal larynx physiology 0.3401614661045918 0.3259342582669302 0.7444740954200029 1.0 1.0 14 Q15165,Q13510,Q9UHD9,Q92804 4 |
| Chronic infection 0.3536329749584023 0.3256814234169222 0.7446654005665714 1.0 1.0 11 P51798 1 |
| Abnormal clavicle morphology 0.3146582713241404 0.325276830780301 0.7449715646062147 1.0 1.0 23 O75419,P41227,Q9Y619,O75844,Q96AY3,Q14739 6 |
| Abnormality of the synovia 0.282106465416419 0.3230185059582182 0.7466812269837766 1.0 1.0 83 Q9BTW9,P55011,P16278,O15360,O95202,Q96A33,Q96L58,Q9UHX1,P16435,Q08AM6,Q9Y5P6,Q8WVQ1,Q96HA7,Q9Y487,Q9Y4R8,P43034,O75844,Q96AY3,Q9NUQ7,Q6NUQ1,Q8NBU5,Q9UBM7 22 |
| Hepatomegaly 0.3453246433101857 0.3216466135498089 0.747720426316477 1.0 1.0 170 P23786,P16278,P49748,Q14108,P04066,P09601,Q9HC07,Q14739,Q9HC21,P33991,Q96RL7,Q96A33,Q15067,P35610,O43676,O43772,P54802,P15586,Q9BUR4,P31751,P51798,Q9BT22,Q9NZJ7,O75381,P07602,O75306,Q16625,O75845,P00374,P10253,Q15904,Q9UJW0,Q9Y619,O00443,Q9NVI7,Q13510,P04062,Q96CU9 38 |
| Ventricular septal hypertrophy 0.6407523510971866 0.3214837504616498 0.7478438245086383 1.0 1.0 3 P46976,P06280 2 |
| Abnormal vitreous humor morphology 0.3758586657674632 0.3204722513799253 0.7486103622374936 1.0 1.0 9 Q9NX14,P53701,P04439 3 |
| Upgaze palsy 0.4348947348214638 0.3193043820463015 0.7494957100833832 1.0 1.0 5 Q96RL7 1 |
| Generalized muscle weakness 0.3086701061220826 0.3192851748819458 0.7495102735691697 1.0 1.0 34 O95831,P21912,P10253,Q15165,P12235,P42858 6 |
| Anonychia 0.3353903885644909 0.3175489408704845 0.7508271100167943 1.0 1.0 15 Q14739 1 |
| Abnormality of mouth shape 0.2701875518048169 0.3175086625360019 0.7508576675149965 1.0 1.0 61 O75845,P56377,P62266,P10644,Q15125,P04350,O95202,Q9H490,Q86XL3,Q10713,P04062,P42345,Q96A33 13 |
| Brain neoplasm 0.4343212403242331 0.3172751681999956 0.7510348176602442 1.0 1.0 5 Q07864 1 |
| Polydactyly 0.2974633525380485 0.3169792125366435 0.751259375536302 1.0 1.0 48 O75419,O75845,Q9UHX1,P21964,Q15125,Q9UBM7,Q14739,Q9UM00,Q10713,O95202,Q15067 11 |
| Exercise induced myalgia 0.3595377409520163 0.3161417945665525 0.7518948847936802 1.0 1.0 10 P49748,P23786 2 |
| Lower extremity joint dislocation 0.2728242210145751 0.3133187826326509 0.7540384815545205 1.0 1.0 73 Q9BTW9,P55011,O15360,O95202,Q96A33,Q96L58,Q9UHX1,P21964,Q6ZXV5,Q15125,Q08AM6,Q9Y5P6,Q8WVQ1,Q96HA7,Q9Y487,Q9Y4R8,P43034,O75844,Q8NBU5,Q9UBM7,Q9Y4P3 21 |
| Functional abnormality of male internal genitalia 0.3067125672103811 0.3127589951072473 0.7544637706895863 1.0 1.0 28 Q13423,O76024,P16435,Q9Y4P3,P04062 5 |
| Lower limb hypertonia 0.3508907950985335 0.3123911047789227 0.7547433097221508 1.0 1.0 11 Q14739,P21912 2 |
| Reduced visual acuity 0.3063811401802999 0.309628413028529 0.756843546944499 1.0 1.0 115 Q15043,P16278,O43505,P50897,Q9NZ08,O43676,Q9UHX1,P06865,O60313,Q9Y5P6,Q9H061,P51798,Q9NZJ7,P68371,P07602,P53701,O75306,Q9NR50,P21912,P17900,Q15058,Q96CU9 22 |
| Pruritus 0.315714545200065 0.3092201635827761 0.7571540567002015 1.0 1.0 22 P16615,Q14739,Q96A33,P22830 4 |
| Peptic ulcer 0.3501918888706225 0.3090257646611467 0.7573019280277709 1.0 1.0 11 Q9Y4P3,P04062 2 |
| Abnormality of the palm 0.3070075575324054 0.3081470995349115 0.757970403482557 1.0 1.0 116 P62266,O95721,Q14739,O95202,Q9UHX1,P16615,P16435,Q15907,Q9BUR4,Q96HA7,O75381,O95831,Q9Y487,Q8NCH0,P42167,P10644,Q06136,P21912,Q9Y619 19 |
| Abnormality of the adrenal glands 0.2794794767658589 0.3080569597373799 0.7580389907552196 1.0 1.0 57 Q13423,O75381,P10644,O95470,P16435,O75844,O75874,P33991,P48735 9 |
| Difficulty running 0.3392799774988158 0.3068812798226437 0.7589337385414461 1.0 1.0 13 Q9BPX6,Q9Y5L0,Q9Y5P6 3 |
| Broad based gait 0.3119559467922336 0.3064364868632211 0.7592723311766363 1.0 1.0 23 O14773,P04062,Q03164 3 |
| Adrenal insufficiency 0.3058645072420974 0.3063193852867593 0.7593614808481826 1.0 1.0 28 Q13423,O95470,O75381,P33991 4 |
| Abnormality of the septum pellucidum 0.3052855176213818 0.305379149451239 0.7600774001541444 1.0 1.0 39 P55011,P51571,Q9BV10,Q9NX14,P53701,P43034,O43505,Q9BVA1,Q6P1N0,Q9NUQ7,Q9NZ01,O95202,Q15392 13 |
| Long eyelashes 0.3056534872860483 0.304101215207858 0.7610507810559568 1.0 1.0 38 P62266,Q9UHX1,Q9Y619,Q4J6C6,Q9UM00,Q03164 6 |
| Myopathy 0.288551854461384 0.3025847512735479 0.7622063367437955 1.0 1.0 93 P23786,Q9Y5L0,P50402,Q9NWM8,Q96RL7,O43676,Q96RR1,O60313,Q9Y5P6,Q13126,P13473,O76024,Q8NCH0,O75306,P12235,P00403,P42167,Q9BTV4,P10644,P21912,Q9Y4P3 21 |
| Central hypoventilation 0.4006794430150439 0.3020004693905406 0.7626517051265225 1.0 1.0 7 O75306,O43819 2 |
| Abnormality of the diencephalon 0.3057043009642688 0.3017668945368333 0.7628297693631161 1.0 1.0 29 Q96RR1,O00443,O75306,Q9Y5P6,Q9GZY8,Q9Y4P3 6 |
| Unusual fungal infection 0.3715088317706378 0.3014311881843296 0.7630857148498031 1.0 1.0 9 P02786,Q9Y5L0 2 |
| Abnormality of skin pigmentation 0.3188781398340854 0.3013099776933649 0.7631781331637293 1.0 1.0 133 P55011,Q7LGA3,P51648,Q9Y5L0,P07437,O15360,Q14739,P33991,P50851,P11802,P42345,Q13423,P21964,Q15125,P16615,Q8IZA0,Q15437,Q96RT7,Q9BUR4,P18074,P51798,Q9NZJ7,P07602,Q9NX14,P53701,Q6PGP7,O75844,Q96AY3,P42858,P00403,P10644,Q06136,P21912,O75648,P53634,Q9H1A4,P40818,P04062 38 |
| Skin rash 0.3196287054021131 0.2994877312989646 0.7645679317132226 1.0 1.0 20 Q06136,P18074,Q14739,P21912 4 |
| Abnormality of the pancreas 0.2730664574848294 0.2963263716440351 0.7669808481794869 1.0 1.0 75 P10644,Q9UHX1,Q15904,Q9UJW0,P53985,P09601,Q14739,Q9BUR4,P00403 9 |
| Cerebral hypoplasia 0.3239302658577952 0.2959880755019198 0.7672391879773739 1.0 1.0 17 Q9UBM7,Q86XL3 2 |
| Impaired antigen specific response 0.3700164762304047 0.294969616263599 0.7680170902847028 1.0 1.0 9 Q9BV10,Q7Z5L9,P50851 3 |
| Cranial hyperostosis 0.3369109295657326 0.2947727485704408 0.7681674854151348 1.0 1.0 13 Q15043,P10644 2 |
| Diarrhea 0.2694993965839921 0.2946716530010801 0.768244719769277 1.0 1.0 71 P35610,Q13423,P54802,Q15904,P02786,P06280,P38571,P42892,Q14566,Q6PGP7,Q9H1A4,Q13510,P15586,P00403,P18074,Q9BT22,Q96A33,Q9UJS0 18 |
| Arthrogryposis multiplex congenita 0.3054509895785475 0.2945880582441763 0.768308585701224 1.0 1.0 35 O75844,Q8NCH0,Q15392 3 |
| Advanced eruption of teeth 0.3470200685608327 0.2938680574889561 0.7688587273638836 1.0 1.0 11 O75844 1 |
| Abnormality of circulating glucocorticoid level 0.346662492305745 0.2921712636040783 0.7701556818295707 1.0 1.0 11 Q13423,P10644 2 |
| Depression 0.2907877465680337 0.2913150300361014 0.7708103933987529 1.0 1.0 97 P55011,P50897,Q92804,Q06787,Q96RL7,Q96RR1,P21964,P06280,Q15165,Q9NZJ7,P07602,O76024,P12235,P42858,P00403,Q9NZ01,P10644,Q9UBB4,Q6DKK2,O43681,P40818,Q9Y4P3,P04062,Q9UHD9 24 |
| Primary adrenal insufficiency 0.3335831003980847 0.291095320604824 0.7709784186586948 1.0 1.0 14 O75381,Q13423 2 |
| Anemic pallor 0.6439987464744725 0.2893597870224118 0.7723060646229629 1.0 1.0 2 O15360 1 |
| Aplasia of metacarpal bones 0.6439987464744719 0.2893597870224104 0.772306064622964 1.0 1.0 2 Q08AM6 1 |
| Partial absence of thumb 0.6439987464744719 0.2893597870224104 0.772306064622964 1.0 1.0 2 Q08AM6 1 |
| Aplasia of the proximal phalanges of the hand 0.6439987464744719 0.2893597870224104 0.772306064622964 1.0 1.0 2 Q08AM6 1 |
| Overlapping fingers 0.3685745234429661 0.2887616170769007 0.7727638065248865 1.0 1.0 9 Q9BV10,Q15125 2 |
| Eyelid myoclonus 0.3530290883881233 0.2861845376353267 0.7747367858868364 1.0 1.0 10 Q13510,P00374 2 |
| Abnormal upper limb bone morphology 0.2934220214903733 0.2850926253263887 0.7755731798517895 1.0 1.0 101 P55011,Q7LGA3,P16278,Q14739,O95202,Q96L58,Q9UHX1,P16435,Q32P28,Q9H2M9,Q8WVQ1,P51798,Q96HA7,Q9BV10,O15228,O75844,Q96AY3,P42858,P10644,O75648,P53634,Q9UBM7,Q9H1A4,Q9Y4P3 24 |
| Intracranial hemorrhage 0.3050438635713159 0.2840298107549485 0.7763875353371816 1.0 1.0 24 O75844,P23786 2 |
| Increased csf lactate 0.2923191358168369 0.2829050907918485 0.7772495920520601 1.0 1.0 49 O95831,O43676,Q9P0J0,P13073,O75306,Q7KZN9,Q96CU9 7 |
| Impaired vibration sensation in the lower limbs 0.3366737808620171 0.2828967641811289 0.7772559751188948 1.0 1.0 12 Q9NR77,Q15120,O43819 3 |
| Antinuclear antibody positivity 0.3958002881719547 0.2824514915600375 0.777597336960824 1.0 1.0 6 Q9Y5L0 1 |
| Webbed neck 0.3034141860316364 0.282378326771635 0.777653431800795 1.0 1.0 37 O75844,Q03164 2 |
| Delayed eruption of primary teeth 0.6405515512378674 0.2813978549530811 0.7784052631776557 1.0 1.0 2 Q13045 1 |
| Dysdiadochokinesis 0.3201727946546227 0.2808996669955814 0.7787873560710423 1.0 1.0 18 Q9UBB4,O75503,O75027,Q6DKK2,P04350 5 |
| Lipoma 0.3953826305738515 0.2808840080108254 0.7787993668367899 1.0 1.0 6 Q15437,P21912 2 |
| Abnormal circulating methionine concentration 0.3953277890436548 0.2806783778731934 0.7789570943135606 1.0 1.0 6 Q6PGP7,Q99707,Q9UJS0 3 |
| Cessation of head growth 0.3949848633184891 0.2800795212807418 0.7794164958403795 1.0 1.0 7 Q9NR50 1 |
| Abnormality of cranial sutures 0.2798798704076484 0.2781673321327129 0.7808839107674879 1.0 1.0 85 O75845,O75381,O95831,Q96L58,Q9Y487,Q9Y619,O75844,Q8NCH0,Q9UM00,P51798 10 |
| Aplasia hypoplasia of the hallux 0.3040141151159706 0.2767576146921651 0.7819662288854108 1.0 1.0 24 Q7LGA3,Q9UHX1 2 |
| Vitiligo 0.3939756076613756 0.2762439431022741 0.7823607080909287 1.0 1.0 7 P00403 1 |
| Aplasia hypoplasia of the retina 0.6219435736677184 0.2762026573731579 0.7823924163089153 1.0 1.0 3 Q16851,Q86YV9 2 |
| Alopecia 0.2988498061144832 0.2760506477414563 0.7825091656867664 1.0 1.0 43 P47985,P48449,Q06136,Q15125,Q13724,Q9H1A4,O75844,Q9BUR4 8 |
| Lumbar kyphosis 0.6374177373864093 0.2742670426659748 0.783879409882748 1.0 1.0 2 Q96AX1 1 |
| Limited elbow extension 0.3503411974069376 0.2740390619532091 0.7840546031466211 1.0 1.0 10 Q96L58,P16435 2 |
| Abnormality of the ankles 0.3002246146354271 0.2737584215319459 0.784270278135677 1.0 1.0 41 Q15043,P07602,Q9NW15,O75844,Q9Y4P3,Q9NZJ7 6 |
| Abnormality of the inner ear 0.3497113980579249 0.2712130125575156 0.7862272053568664 1.0 1.0 10 P10644 1 |
| Increased blood pressure 0.2603558879603096 0.2694683511020049 0.7875692939017949 1.0 1.0 63 P35610,P10644,P21912,P21964,Q9Y5L0,P06280,P28288,P16435,O75844,Q06787,Q10713,P00403,Q9Y4P3,P04062,P42892 15 |
| Thoracolumbar scoliosis 0.3919046124882415 0.2679322230366788 0.7887514898015815 1.0 1.0 6 P36776,P27635,Q99575,P21281,P78318 5 |
| Complex febrile seizure 0.6336571607646662 0.265846241097628 0.7903576289365304 1.0 1.0 2 Q8WVX9 1 |
| Sclerocornea 0.3484495407530038 0.265573693270893 0.7905675479614647 1.0 1.0 10 Q9UBM7,P53701,Q08AM6,O95202 4 |
| Recurrent paroxysmal headache 0.3771873377807172 0.2649419107871302 0.7910542114739265 1.0 1.0 8 P00403,P10644 2 |
| Relative macrocephaly 0.3014442127493293 0.2642201285581024 0.7916103016902891 1.0 1.0 36 O75844,Q7LGA3,Q15392,Q96HA7 4 |
| Kyphosis 0.3293954502604276 0.2641019310703135 0.7917013759279881 1.0 1.0 153 P51648,Q7LGA3,P50402,P16278,P04350,Q14108,P04066,Q9HC07,Q14739,Q9NWM8,O95202,Q96L58,Q5KU26,Q9UHX1,Q15125,Q8WVQ1,Q9BT22,Q9NR77,Q96HA7,O95831,Q9Y487,O75844,Q8NCH0,P42858,P10644,P21912,O00443,Q9UBM7,Q9Y4P3,P04062 30 |
| Abnormal aortic valve cusp morphology 0.3056485884353586 0.2632374668103632 0.7923675544766591 1.0 1.0 23 Q96L58,Q9UHX1,P37268,Q6PGP7,Q9Y4P3 5 |
| Infantile spasms 0.2988903865210178 0.2584771300990527 0.7960386969187139 1.0 1.0 27 Q9UBX3 1 |
| Abnormal phalangeal joint morphology of the hand 0.298347216699879 0.2580144780224107 0.7963957335940868 1.0 1.0 41 O75419,P41227,P11274,Q15042,P16435,O76024,Q9Y619,O95155,P27635,O75844,Q13509,Q8WVQ1,Q15022,P18074 14 |
| Abnormal neuron morphology 0.2993764155502003 0.2577714028230563 0.7965833360482777 1.0 1.0 28 Q99720,Q13510 2 |
| Enamel hypoplasia 0.3392519543168178 0.2575762514441465 0.7967339599939867 1.0 1.0 11 P51648,O00443 2 |
| Paralysis 0.2879288192915226 0.2563951913358945 0.7976457005518169 1.0 1.0 50 P21912,P10253,P50402,P17900,Q15165,P04062,Q9UHD9,P51798,Q9NR77 9 |
| Abnormal circulating albumin concentration 0.2999573143024529 0.2555114644998041 0.7983280900249705 1.0 1.0 30 Q14C86,Q9Y5L0,Q8N1F7,Q9BV10,O95470,Q6PGP7,Q12769,Q9BT22,P52565,O43707,Q92621,Q9UJS0,Q5XKP0 13 |
| Tube feeding 0.2608466006761468 0.2550456395914142 0.7986878492181466 1.0 1.0 65 Q9UHX1,O75648,P07602,Q9BV10,Q13724,P37268,Q01105,Q9H490,Q9H1A4,Q9GZY8,Q9NZ01,Q99720,Q9NZJ7 13 |
| Emg impaired neuromuscular transmission 0.3881724650438943 0.2542394263562011 0.799310593193332 1.0 1.0 6 O60313,Q9Y5P6 2 |
| Slender build 0.3382446047257442 0.2529601342598093 0.8002990197217317 1.0 1.0 11 P10644,P04350 2 |
| Optic nerve hypoplasia 0.3095766998788566 0.2510567507279588 0.8017702330991068 1.0 1.0 21 P07196,Q9UHX1,P37268,Q8N3U4,Q9NVI7,Q15058,Q9Y5P6,Q13509,Q9H3S7,P30153 10 |
| Protruding tongue 0.3296479802080495 0.2490650617995251 0.8033104546195564 1.0 1.0 12 O60826,O15111,Q10713,Q96RL7,Q9NRZ9 5 |
| Abnormal renal pelvis morphology 0.2663985475060682 0.2465105167821217 0.8052870643708263 1.0 1.0 60 O75381,P23786,Q15125,P16435,O76024,Q9UBM7,O95155,O43505,Q8NCH0,Q07864 10 |
| Abnormal epidermal morphology 0.3149930744486154 0.245369202640964 0.8061705729674855 1.0 1.0 17 O75844,Q06136 2 |
| Subcortical band heterotopia 0.607410537108324 0.2434729874168041 0.8076390085182357 1.0 1.0 3 P43034 1 |
| Subcortical heterotopia 0.607410537108324 0.2434729874168041 0.8076390085182357 1.0 1.0 3 P43034 1 |
| Abnormal salivary gland morphology 0.4122836135222466 0.2427318765963634 0.8082131118490528 1.0 1.0 5 P43246,P16615 2 |
| Dolichocephaly 0.2976677177139305 0.2415046318411613 0.8091640270241411 1.0 1.0 29 O75381,O95202,Q03164 3 |
| Hypoplasia of the fovea 0.6217486681291244 0.2401757062472498 0.810194046155462 1.0 1.0 2 Q16851 1 |
| Facial hypotonia 0.3235893000406536 0.2399911214715394 0.8103371395420398 1.0 1.0 14 P10253 1 |
| Thyroiditis 0.3838669177652167 0.2386875071277358 0.8113479046715892 1.0 1.0 7 P42224,P54098,Q96J02,P49327,Q15437,P50851 6 |
| Follicular thyroid carcinoma 0.6051626245009865 0.2385931447288089 0.8114210813465255 1.0 1.0 3 P21912 1 |
| Severe global developmental delay 0.261961867259089 0.2381015397551835 0.8118023405259998 1.0 1.0 68 Q13885,O75381,P55011,Q7LGA3,Q9UID3,P55263,O75648,Q9BV10,Q9H490,O00584,Q9HC21,Q13509,Q9H2M9,P42858,P18074,Q9BT22,Q96A33,Q15067 18 |
| Dental malocclusion 0.2984274214974884 0.2378652030777109 0.8119856448951244 1.0 1.0 24 Q9Y4P3,P10644,P51798 3 |
| Abnormal dentin morphology 0.4104799461224041 0.2369436946584648 0.8127004715634065 1.0 1.0 5 Q96L58 1 |
| Telecanthus 0.2968293883772548 0.2358248924634844 0.8135685514574256 1.0 1.0 39 Q15125,Q86XL3,O75844,Q8NCH0,Q96EK5,Q03164 6 |
| Hyperpigmentation of the skin 0.283455195482338 0.23543939658534 0.8138677112603183 1.0 1.0 94 P55011,Q7LGA3,P51648,Q9Y5L0,P07437,Q14739,P33991,P42345,Q13423,P16615,Q9BUR4,P18074,P53701,Q6PGP7,O75844,P42858,P10644,Q06136,P21912,O75648,Q9H1A4,P40818,P04062 23 |
| Glomerular sclerosis 0.297506408318352 0.2348339095035085 0.8143376476000612 1.0 1.0 31 Q14C86,P21912,Q8N1F7,O95470,Q14108,Q12769,P61619,P00403,P52565,O43707,Q92621 11 |
| Abnormality of the lymphatic system 0.3233744859153213 0.2339301827975169 0.8150391807412316 1.0 1.0 148 Q13724,P16278,P28288,Q14108,P04066,Q14739,O75874,P33991,Q96RL7,O95202,Q9NZ08,Q96A33,Q9UJS0,P21964,P54802,O95155,P15586,Q9BUR4,Q96HY6,P31751,P48735,P51798,P28070,Q15392,Q9NZJ7,Q9BT22,P07602,P38571,P61916,Q16625,O75845,P10644,P10253,Q15904,O00443,Q13510,Q10713,P04062,P10619 39 |
| Hypoplastic heart 0.6028213166144275 0.2335635371723187 0.8153238379350074 1.0 1.0 3 O60826,Q8N3U4 2 |
| Cutaneous cyst 0.6020406850412054 0.2318986549205904 0.8166167292733237 1.0 1.0 3 O60716 1 |
| Epidermoid cyst 0.6020406850412054 0.2318986549205904 0.8166167292733237 1.0 1.0 3 O60716 1 |
| Biconcave vertebral bodies 0.3817302575941671 0.2311215535511465 0.8172203710661812 1.0 1.0 6 Q96AY3,Q96HA7 2 |
| Abnormality of the cerebrospinal fluid 0.3153191620874471 0.2287733204886813 0.8190451040660385 1.0 1.0 137 P55011,P23786,P13073,O43819,O43505,O15360,Q9HC21,Q7KZN9,O95202,Q9NRZ9,P56377,O43676,Q96L58,P21964,Q15125,P16435,Q08AM6,Q13509,Q9Y5P6,P18074,P51798,Q9NR77,Q15392,Q9Y3Z3,Q9NZJ7,O95831,Q9NPL8,P07602,Q9P0J0,P53701,O75306,Q16625,P00403,P10644,Q9H490,Q9UBM7,O43681,Q10713,Q9Y6M9,P04062,Q96CU9 41 |
| Emotional lability 0.2717856685006911 0.2283187620516825 0.8193984397221485 1.0 1.0 57 P10644,P07602,Q9P0J0,Q15165,O75306,Q7KZN9,Q96RL7,Q9NR50,Q96CU9,Q9NZJ7 10 |
| Hyperostosis 0.321119942409953 0.2277281146769716 0.8198576142946465 1.0 1.0 14 Q15043,P10644 2 |
| Alkalosis 0.4064670977434239 0.2242457167911908 0.8225661122709864 1.0 1.0 5 Q9Y619 1 |
| Cutaneous syndactyly 0.3524815701964421 0.2219797253438125 0.8243296664438702 1.0 1.0 9 P98175,Q9Y619,Q8IYA6,P27635,O15111 5 |
| Headache 0.2578232044754155 0.2208572205827811 0.8252036078989737 1.0 1.0 65 Q14C86,P23786,Q9NZ08,Q92621,Q9NQZ5,Q96RR1,O60313,P05067,Q9Y3Z3,Q8N1F7,P12235,P00403,P10644,P21912,P04062,Q12769,P40818,P52565,O43707 19 |
| Osteolysis involving bones of the upper limbs 0.3772446924469985 0.2149723578504519 0.8297888699618599 1.0 1.0 7 O75844 1 |
| Congenital sensorineural hearing impairment 0.4026260504441282 0.2123279189554798 0.8318512157834363 1.0 1.0 5 Q16740 1 |
| Facial erythema 0.5921117597226491 0.2112553707937964 0.8326880059206652 1.0 1.0 3 Q9H1A4 1 |
| Lack of skin elasticity 0.3198012777064025 0.2110076216026145 0.832881324074882 1.0 1.0 13 O75844 1 |
| Oral pharyngeal dysphagia 0.3119189742238116 0.2097877125277832 0.8338333636506028 1.0 1.0 16 Q13510,P42858,Q12959 3 |
| Carious teeth 0.2924091405028918 0.2091129223892896 0.8343600871006409 1.0 1.0 41 Q96L58,P21964,Q9Y487,P16278,Q9H1A4,Q6P4Q7,Q9BUR4,Q9Y4P3,P51798 9 |
| Pain in head and neck region 0.3755550298143256 0.2090391625775877 0.834417666581996 1.0 1.0 7 Q15043 1 |
| Abnormal oral frenulum morphology 0.3209026139275487 0.2085151441173836 0.8348267592079102 1.0 1.0 12 O75844,P11274,O15111 3 |
| Neoplasm of the pituitary gland 0.3080510354564426 0.2075073215399835 0.8356136753501393 1.0 1.0 17 P10644,O75874 2 |
| Posterior pharyngeal cleft 0.6048260733312569 0.2063576454401212 0.8365115528078744 1.0 1.0 2 O15344 1 |
| Abnormal cornea morphology 0.3242519948746504 0.206183602048956 0.8366474963276453 1.0 1.0 153 P51648,Q7LGA3,P16278,P04066,P07437,O43505,Q14739,Q9NWM8,Q9NZ08,O95202,Q96L58,Q15125,P06280,Q9Y5P6,Q96EK5,O75381,Q2TAA5,P53701,O75844,Q8NCH0,P12235,P42858,Q16625,O15111,O75845,Q06136,Q9NVI7,Q9UBM7,Q13510,Q9Y4P3,P04062,P10619 32 |
| Hyperactive deep tendon reflexes 0.3344009092547868 0.2049624998841601 0.8376014237504905 1.0 1.0 10 Q9NR77 1 |
| Childhood onset 0.2928556638283828 0.204065859267687 0.8383020332863631 1.0 1.0 39 Q9NR77,O00165,P22830,Q15904 4 |
| Limb dystonia 0.3135979126848756 0.2032409818340965 0.8389466823441596 1.0 1.0 15 Q96RL7,Q99720 2 |
| Limb dysmetria 0.602632403635235 0.2022064054594861 0.8397553657324399 1.0 1.0 2 P54098 1 |
| Hydrops fetalis 0.2892253700656094 0.2020555392188174 0.8398733054708185 1.0 1.0 44 P04062,P16278,Q13510,P10619 4 |
| Round face 0.3033990903940224 0.2008201885619721 0.8408391763127543 1.0 1.0 20 P10644,Q03164,Q8WVQ1 3 |
| Occipital meningocele 0.4241315839398304 0.2004734272170802 0.8411103381554745 1.0 1.0 4 Q10713 1 |
| Aplasia involving bones of the lower limbs 0.5865992053406225 0.2002257169688636 0.8413040551646525 1.0 1.0 3 Q08AM6 1 |
| Increased serum pyruvate 0.2932365406754841 0.1999805606487598 0.8414957843839033 1.0 1.0 33 O95831,O43676,Q70HW3,Q96CU9 4 |
| Abnormal thyroid morphology 0.2911382985954254 0.1988342667802517 0.8423923901211792 1.0 1.0 41 Q96RR1,P10644,P21912,P20585,O14654,P12235,O75874,P50851,P48735,P42892 10 |
| Abnormal csf metabolite level 0.272867073465308 0.1975171298346515 0.8434228778100832 1.0 1.0 55 O95831,O43676,Q9P0J0,P13073,O75306,Q7KZN9,Q96CU9 7 |
| Subcapsular cataract 0.3717065446309153 0.1965198009771209 0.8442033358923917 1.0 1.0 6 Q8N2K0 1 |
| Irregular vertebral endplates 0.3968464307872122 0.1948419515287943 0.8455166790499657 1.0 1.0 5 Q96L58 1 |
| Broad distal phalanx of finger 0.3709305407935978 0.1939132533014364 0.8462438060382411 1.0 1.0 6 Q7LGA3 1 |
| Ridged nail 0.3709234125612086 0.1938893592314275 0.8462625157007182 1.0 1.0 6 P16615 1 |
| Biparietal narrowing 0.3245328375331102 0.1923415894615091 0.8474746428547468 1.0 1.0 11 O75845,Q9UBM7,Q10713 3 |
| Albinism 0.5818181818181901 0.1909126348082362 0.848594041095194 1.0 1.0 3 O14617,Q86YV9 2 |
| Hypoinsulinemia 0.5963647759323231 0.1906427263712351 0.8488055132559074 1.0 1.0 2 O00330 1 |
| Transient neonatal diabetes mellitus 0.5963647759323231 0.1906427263712351 0.8488055132559074 1.0 1.0 2 O00330 1 |
| Abnormal oral glucose tolerance 0.5963647759323231 0.1906427263712351 0.8488055132559074 1.0 1.0 2 O00330 1 |
| Abnormally folded helix 0.304792299085801 0.190208041776354 0.8491461097330826 1.0 1.0 17 P62266,P23786,P21964,O15111,Q9UID3 5 |
| Vascular dilatation 0.2593903063720614 0.1901450730451373 0.8491954511268529 1.0 1.0 70 P55011,Q96L58,Q7LGA3,P10644,O75648,P10253,Q6ZXV5,P38435,P11274,O95155,O75844,Q06787,Q9Y5P6,P61619,P42858,Q9Y4P3,Q96HA7 17 |
| Ketoacidosis 0.344125706581313 0.1892590311204999 0.8498898034139644 1.0 1.0 9 P53985 1 |
| Anhidrosis 0.3947896230328393 0.1887512419646975 0.8502877880811825 1.0 1.0 5 P04066,O15270,Q12756 3 |
| Exaggerated cupid s bow 0.3689990586758825 0.1874718084424946 0.8512907254145159 1.0 1.0 6 P61978,Q6DKJ4,Q96KP1,Q00839,Q969N2 5 |
| Hip dislocation 0.2579583725202556 0.1833290544937345 0.8545398385202019 1.0 1.0 61 Q9BTW9,P55011,Q96L58,Q9UHX1,Q9Y487,Q9Y4R8,Q8NBU5,P43034,Q9UBM7,O75844,O15360,Q08AM6,Q9Y5P6,O95202,Q96A33,Q96HA7 16 |
| Scaphocephaly 0.5771159874608235 0.1819842455129469 0.8555950897065014 1.0 1.0 3 P40855,P48444 2 |
| Symphalangism affecting the phalanges of the hand 0.5910372923848465 0.181160750856489 0.8562414010830919 1.0 1.0 2 Q15233 1 |
| Proximal symphalangism 0.5910372923848465 0.181160750856489 0.8562414010830919 1.0 1.0 2 Q15233 1 |
| Synostosis involving bones of the upper limbs 0.2896898397688386 0.1804442428610599 0.8568038235350799 1.0 1.0 30 Q96L58,O95202,P16435,Q9Y4P3 4 |
| Bladder diverticulum 0.3671917957889905 0.1804038451155023 0.8568355358855533 1.0 1.0 7 Q9Y4P3 1 |
| Abnormality of the hepatic vasculature 0.3277645373220614 0.1778114676048804 0.8588710410221261 1.0 1.0 10 P28288,Q9Y5L0,Q10713 3 |
| Primary amenorrhea 0.2892006247289229 0.1758910782502921 0.8603795146037598 1.0 1.0 24 Q16740,P16435,Q9NR50 3 |
| Lipodystrophy 0.2900639561988369 0.1755824663091451 0.8606219781976219 1.0 1.0 35 Q9Y487,P50402,P04066,O75844,P31751,P42167,P28070,Q9BTV4 8 |
| Sparse body hair 0.320388405629381 0.174879227934702 0.8611745324475779 1.0 1.0 11 P48449,P53634 2 |
| Mediastinal lymphadenopathy 0.3898996235884663 0.1745547455497716 0.861429510349256 1.0 1.0 5 O95999,Q01844,O15460,P01889 4 |
| Proximal muscle weakness in lower limbs 0.3000584769836334 0.1734991905283687 0.8622590640977168 1.0 1.0 19 Q96RR1,P50402,P12235,Q9BTV4 4 |
| Emg myopathic abnormalities 0.2887091426870605 0.1734823857226216 0.8622722721150962 1.0 1.0 30 Q96RR1,Q9Y5L0,P50402,P13473,P12235,Q9BTV4 6 |
| Ambiguous genitalia 0.2919078486825624 0.1733714585349424 0.8623594581543168 1.0 1.0 23 O75845,P16435,Q9UBM7,Q15392 4 |
| Paraparesis 0.2861575612634677 0.1733422718702195 0.8623823984330774 1.0 1.0 26 Q13510,Q9Y619,P04062,P21912 4 |
| Nyctalopia 0.2887140176027201 0.1706548823278059 0.8644951409872221 1.0 1.0 31 O75381,Q96S66,Q6P4Q7,Q13432,P38435 5 |
| Lower limb hyperreflexia 0.2994544371695267 0.1701800796732774 0.8648685173150723 1.0 1.0 19 P21912,P13073,P07384,Q14739,P40818,Q12756,Q8WVX9 7 |
| Enchondroma 0.3389907536326755 0.1698676351364966 0.865114234583219 1.0 1.0 9 O75874 1 |
| Amblyopia 0.3008424889055148 0.1696678329893675 0.8652713727900696 1.0 1.0 17 P53701,Q9UHX1,P52732,Q13509 4 |
| Abdominal wall muscle weakness 0.412041392285974 0.1695199469406808 0.8653876840227601 1.0 1.0 4 P46976,Q14331,A6NHR9 3 |
| Decreased corneal reflex 0.5698715527354343 0.1686809897610964 0.8660475724706518 1.0 1.0 3 Q2TAA5 1 |
| Abnormality of the helix 0.2885575385741178 0.1678144935884852 0.8667292199677152 1.0 1.0 38 O75844,P23786 2 |
| Squamous cell carcinoma of the skin 0.5692999699668866 0.1676548356413145 0.8668548290903824 1.0 1.0 3 P18074 1 |
| Abnormal carotid artery morphology 0.3058705919442989 0.1656558446486622 0.8684277967023104 1.0 1.0 15 O75844 1 |
| Cerebral hemorrhage 0.3111587659198121 0.1655506262186757 0.8685106055495215 1.0 1.0 12 P21912,P23786 2 |
| Abnormal natural killer cell physiology 0.5816358508304756 0.1652084279008447 0.8687799319138021 1.0 1.0 2 Q9Y6K9 1 |
| Bifid tongue 0.3865479622782752 0.1650587668778596 0.8688977270502656 1.0 1.0 5 Q8NCM8,Q9UBM7,Q6DKJ4 3 |
| Coloboma 0.2838386840527102 0.1650422869065761 0.8689106982771919 1.0 1.0 45 P06400,Q9UHX1,P41227,Q15042,Q9NX14,P53701,Q9UBM7,O43505,Q9Y5P6,Q9H2M9,Q10713,Q96EK5,O95202,P78318 14 |
| Periventricular heterotopia 0.3242990954795285 0.1640368947348718 0.869702099388264 1.0 1.0 10 Q9UBM7,Q06787 2 |
| Shallow acetabular fossae 0.5642275142983211 0.1586993754713503 0.8739057302442139 1.0 1.0 3 Q96HA7 1 |
| Areflexia 0.2666540308482058 0.1586403170380369 0.8739522626019596 1.0 1.0 82 O95831,Q96RR1,P07196,P10253,Q9BQT8,O95721,O43505,P12235,Q13510,O15269,O60313,Q9Y5P6,Q5T2R2,Q15120,Q96RL7,Q9BT22,Q9NR77,Q15067 18 |
| Abnormal uvea morphology 0.2819570544729708 0.1575652641955146 0.8747993767469142 1.0 1.0 101 Q7LGA3,O43505,O15360,P50851,O95202,Q5XKP0,Q9UHX1,P41227,O95155,Q9Y5P6,Q96RT7,Q96EK5,Q9NR77,Q96HA7,O75381,Q9NX14,P53701,Q86YV9,P52732,P10644,P21912,Q9Y619,P04439,Q9UBM7,Q10713,Q9Y4P3,P78318 27 |
| Absent toe 0.2852504629814001 0.1570545041487669 0.8752018929455101 1.0 1.0 28 Q7LGA3,Q9UHX1 2 |
| Perisylvian polymicrogyria 0.4066418132183841 0.1564384991334692 0.8756873928078857 1.0 1.0 4 Q9BVA1 1 |
| Disproportionate tall stature 0.2868167461229787 0.1548636021508832 0.8769288486833025 1.0 1.0 32 Q7LGA3,P16435,Q8NCH0,P42858,O95202 5 |
| Brisk reflexes 0.2888415356465384 0.1542059961056217 0.877447314534276 1.0 1.0 23 Q99720 1 |
| Nephrolithiasis 0.2950684344113739 0.1532777474966707 0.8781792482263164 1.0 1.0 20 Q8NCH0,Q4J6C6 2 |
| Annular pancreas 0.3818958203750618 0.1521999378486142 0.879029242982382 1.0 1.0 5 Q9Y4R8,O95155,Q86V48 3 |
| Type 1 muscle fiber atrophy 0.3584753610152795 0.1519070965927602 0.879260210984306 1.0 1.0 7 P50402 1 |
| Skin tags 0.2930060611418436 0.1511931448527802 0.8798233577482053 1.0 1.0 21 Q9UHX1 1 |
| Panniculitis 0.3575790513339739 0.1490575528558953 0.8815082195464266 1.0 1.0 7 P28070,P52732 2 |
| Chronic otitis media 0.2902853218151187 0.1475797816821844 0.882674412239032 1.0 1.0 22 Q03518,Q9Y4P3,O95202,Q06787 4 |
| Abnormal atrioventricular valve morphology 0.2861341646339658 0.1471503881752616 0.8830133187090845 1.0 1.0 34 Q96L58,P53701,O75844,Q06787,Q9Y4P3,P04062 6 |
| Spastic paraparetic gait 0.4026034378710517 0.14696047886726 0.8831632148450734 1.0 1.0 4 Q15043,Q01433 2 |
| Increased sulfur amino acid level in urine 0.4022560117549778 0.1461573868612782 0.8837971445963224 1.0 1.0 4 Q4J6C6 1 |
| Myoclonus 0.2753122394253059 0.1461128941273149 0.8838322676179307 1.0 1.0 94 O75845,P07602,O75503,P13073,Q14108,P50897,Q13510,Q9Y4G8,Q9UBX3,P00403,P04062,Q96CU9,Q9NZJ7 13 |
| Abnormality of the breast 0.2878523928913263 0.1456095880688691 0.8842295984792206 1.0 1.0 110 O75419,Q7LGA3,P23786,P07437,Q06787,O75874,O95202,Q96A33,Q15067,Q9H2M9,P31751,Q96EK5,P48735,Q2TAA5,Q9BV10,Q9UM00,Q07864,P10644,P21912,Q9Y619,Q9UBM7 21 |
| Abnormal circulating aspartate family amino acid concentration 0.3557661921004328 0.143341114215052 0.8860207866248584 1.0 1.0 7 Q6PGP7,Q99707,Q9UJS0 3 |
| Sloping forehead 0.2738369969523493 0.1424489724993808 0.8867253822889647 1.0 1.0 51 O75845,P23786,A5YKK6,Q15021,Q86XL3,Q15058,O15360,P08243,Q9HC21,Q96RT7,P52732,Q96EK5,Q16625,Q9NXE4 14 |
| Bilateral ptosis 0.302604698108297 0.1409008725056015 0.8879482528651224 1.0 1.0 14 O60313,O75306,O43819 3 |
| Easy fatigability 0.2909865249169041 0.1396545744123918 0.8889329189414887 1.0 1.0 21 Q96RR1,P10644,P21912,P12235,Q9NWM8 5 |
| Corneal neovascularization 0.3990982008050263 0.1389478686375805 0.8894913441144616 1.0 1.0 4 P21964 1 |
| Aplasia hypoplasia of the optic nerve 0.2825751895351301 0.1388502961287598 0.889568448329686 1.0 1.0 28 P07196,Q9UHX1,Q9NVI7,O95721,Q15058,Q9Y5P6 6 |
| Cutaneous abscess 0.5523125682953502 0.138735705417059 0.8896590020844397 1.0 1.0 3 P53634 1 |
| Hypoparathyroidism 0.317729621510161 0.1387159603386614 0.8896746055101072 1.0 1.0 10 P00403 1 |
| Abnormal waist to hip ratio 0.3541198347590135 0.1382046014577034 0.890078718560591 1.0 1.0 7 P18031,Q9Y6M1,O76024,P31751 4 |
| Craniofacial hyperostosis 0.3531636182691161 0.1372413584462092 0.8908400208672278 1.0 1.0 6 Q96L58 1 |
| Abnormal patella morphology 0.2817275753101168 0.1331455983733081 0.894078233862341 1.0 1.0 28 O75419,P21964,Q6ZXV5,Q15125,Q9Y619,Q9H1A4,Q8WVQ1,Q9Y4P3 8 |
| Abnormality of the zygomatic bone 0.256645246808474 0.1326020037264273 0.8945081476722192 1.0 1.0 73 O95831,Q96L58,P10644,Q9Y487,Q15125,P16435,Q9HC07,Q14739,Q8WVQ1,Q9Y4P3,Q96HA7 11 |
| Multiple joint contractures 0.2896245757250553 0.131957020489716 0.8950182870726393 1.0 1.0 21 Q15043,Q96L58,O75844,Q9Y5P6,P41440,P18074 6 |
| Severe postnatal growth retardation 0.3022852433732799 0.1286207398834291 0.897657754568896 1.0 1.0 12 O95202 1 |
| Hepatitis 0.2976122788783492 0.1274228562621619 0.8986057270068346 1.0 1.0 15 Q9Y619,Q9Y5L0 2 |
| Neonatal insulin dependent diabetes mellitus 0.3935402947632425 0.1266543935877812 0.8992139436925106 1.0 1.0 4 O00330,Q9UKG1,A5YKK6 3 |
| Intestinal polyp 0.2862197370709319 0.1237659818114749 0.9015005672542068 1.0 1.0 22 P21912,P20585,Q15437,P42345,P42892,Q07864 6 |
| Foot oligodactyly 0.5537449075525087 0.1237256810536277 0.9015324773488363 1.0 1.0 2 Q15427 1 |
| Keratoconjunctivitis 0.3135475252591535 0.1231545000360495 0.9019847549186824 1.0 1.0 10 Q14739 1 |
| Abnormality of chorioretinal pigmentation 0.3917515672068149 0.1228058513151171 0.9022608406575628 1.0 1.0 4 Q9Y619,Q5XKP0 2 |
| Pain 0.3294345976980926 0.1220005618832079 0.9028985732770508 1.0 1.0 173 Q15043,Q14C86,P23786,P50402,P49748,Q14108,Q14739,Q92804,Q06787,O75874,Q9NZ08,Q13423,Q96RR1,Q15800,P21964,P06280,Q15165,Q70HW3,O60313,O15269,Q96HY6,P48735,P18074,P51798,Q9NR77,P28070,Q9NZJ7,Q96HA7,Q8N1F7,P07602,O75844,P12235,P42892,Q07864,Q8WVX9,Q9BTV4,P10644,P21912,Q14566,P46020,Q7Z5L9,Q12769,Q13510,Q9Y4P3,P04062,Q9UHD9 46 |
| Ocular albinism 0.3477623398654151 0.1212035232124487 0.9035298335730276 1.0 1.0 6 O95155,Q86YV9 2 |
| Juvenile cataract 0.3482640987379034 0.1203650745798574 0.9041939566660652 1.0 1.0 7 Q9H1A4 1 |
| Motor axonal neuropathy 0.290871697714176 0.1200282527765296 0.9044607672653512 1.0 1.0 17 Q9BTW9,O95831,Q9Y6X9,P08397,O60313,O15269,Q9H0B6,P22626 8 |
| Plantar hyperkeratosis 0.2821068456249278 0.1199092029521861 0.9045550741784308 1.0 1.0 33 Q06136,P21912,P16615,P53634,O95721,Q9BUR4,P42167 7 |
| Anencephaly 0.3063566468933309 0.1189872233829644 0.9052854781295128 1.0 1.0 11 O43505,Q08AM6,P21964 3 |
| Irregular hyperpigmentation 0.2544790335244319 0.1186966678669565 0.9055156765426648 1.0 1.0 72 P55011,Q7LGA3,P10644,P21912,Q06136,O75648,P16615,Q6PGP7,P07437,O75844,O15360,Q14739,Q15437,P42858,Q9H1A4,Q9BUR4,P18074,P42345 18 |
| Abnormal circulating androgen level 0.2997061814606514 0.1183017480584476 0.9058285723770508 1.0 1.0 12 Q13423 1 |
| Abnormal pyramidal sign 0.2935260357879662 0.117529521494185 0.9064404513818464 1.0 1.0 121 Q15043,P51648,O14773,P51572,P04066,Q99720,Q9NZ08,Q15067,O75027,O60313,Q9Y5P6,Q9NR77,Q9NZJ7,O95831,P07602,Q9P0J0,Q8N2K0,O75306,P42858,P07196,P21912,Q9Y619,Q6DKK2,P17900 24 |
| Rimmed vacuoles 0.2969597427016459 0.1163787856409346 0.9073523477434596 1.0 1.0 14 P50402,Q9Y5L0,Q9BTV4 3 |
| Retinal atrophy 0.2807547950404997 0.1152673085894188 0.9082332495775972 1.0 1.0 31 P51648,Q7LGA3,P04439,P04062 4 |
| Abnormal ovarian physiology 0.2773829424235536 0.1148937930328849 0.9085293049570088 1.0 1.0 26 Q96RR1,P49770,Q9H1A4,O75844,Q06787,Q9NR50 6 |
| Irritability 0.2574320433166821 0.1140121003663733 0.9092282012885048 1.0 1.0 76 Q14C86,O95831,P21912,O43772,P07602,P50897,Q13510,Q9HC21,P42858,Q96RL7,Q9NZ08,Q15067,Q9UJS0,Q9NZJ7 14 |
| Vasculitis 0.3348332800213554 0.1136904683682168 0.9094831686683336 1.0 1.0 8 Q9NZ08 1 |
| Avascular necrosis of the capital femoral epiphysis 0.3873623577757732 0.1135860474258822 0.909565948302957 1.0 1.0 4 Q96HA7 1 |
| Cyanosis 0.2892696842257359 0.112362911526962 0.9105356613676436 1.0 1.0 17 O75844,O43772 2 |
| Agenesis of corpus callosum 0.2680425539007302 0.1120299880608961 0.9107996292011789 1.0 1.0 89 Q7LGA3,P23786,Q9UHX1,P53701,Q86XL3,O95155,O43505,Q15058,Q9BVA1,Q9HC21,Q9H2M9,Q9Y5P6,P00403,Q10713,O95202,P78318,Q15392 17 |
| Abnormal venous morphology 0.2791271487417048 0.1118607703651934 0.9109338020370052 1.0 1.0 24 Q9Y487 1 |
| Nail dystrophy 0.2782765695609149 0.1102424018443062 0.912217135381211 1.0 1.0 28 P16615,P53634,Q9H1A4,O75844,Q9BUR4 5 |
| Flattened femoral epiphysis 0.5331018154485724 0.1097235872095329 0.9126285934710632 1.0 1.0 3 Q96HA7 1 |
| Keratitis 0.2969124756637325 0.1073415947922573 0.914517987276307 1.0 1.0 12 Q14739 1 |
| Functional motor deficit 0.3069407919473277 0.1070684791398416 0.9147346533906444 1.0 1.0 141 P23786,Q9Y5L0,O14773,Q9HC21,Q9NWM8,Q96RL7,Q99720,Q15067,Q96RR1,Q9BPX6,Q9Y2R0,Q9H2D1,Q15907,Q9Y5P6,Q9GZY8,Q9NR77,Q9NZJ7,P07602,P53701,P13473,P12235,P42858,P00403,P10644,P07196,P21912,P46020,Q13510,P04062 29 |
| Hashimoto thyroiditis 0.3835058011915857 0.1057484167468112 0.915781964676206 1.0 1.0 4 Q96J02,Q15437,P54098 3 |
| Vocal cord paralysis 0.287599781097808 0.1048985177895199 0.9164563351132952 1.0 1.0 18 P50402,P21912,Q9NR77 3 |
| Gingival recession 0.5295038062075055 0.1047240396455886 0.9165947859687156 1.0 1.0 3 P53634 1 |
| Hypothermia 0.3318403410098894 0.1043818128761866 0.9168663550557152 1.0 1.0 8 P47985,P49748,O43772 3 |
| Aplasia hypoplasia affecting the anterior segment of the eye 0.2747165042413853 0.1038557915478393 0.917283790552472 1.0 1.0 25 Q9Y4P3,Q7LGA3,O95202,Q96HA7 4 |
| High narrow palate 0.2800120058325633 0.1032224543249913 0.9177864191253547 1.0 1.0 37 O75419,P23786,P41227,P11274,Q9Y619,P16435,P18074 7 |
| Abnormality of iron homeostasis 0.3626976421467346 0.1032170393332358 0.9177907167086796 1.0 1.0 5 P28288 1 |
| Abnormality of ocular smooth pursuit 0.2776463622194902 0.1027986717118547 0.9181227595012816 1.0 1.0 24 Q9BTW9,Q9UBB4,O14773,Q9NW15,P43034,P46977,Q06787,Q10713 8 |
| Late onset 0.3057684908082057 0.0954079479725801 0.923990803309486 1.0 1.0 10 P31751 1 |
| Hemianopia 0.3393904752083869 0.0946420826328073 0.9245991227283674 1.0 1.0 7 P00403 1 |
| Distal lower limb amyotrophy 0.2851627908405942 0.0931228334535253 0.9258059777809248 1.0 1.0 17 P07196,Q9NR77 2 |
| Physical urticaria 0.5202263889312828 0.0924582483401125 0.9263339620781824 1.0 1.0 3 Q9Y5L0 1 |
| Abnormal ureter physiology 0.2754779564344449 0.0916122401587016 0.9270061261094946 1.0 1.0 44 P21912,Q9UHX1,P16435,Q86XL3,Q9UBM7,Q9Y4P3 6 |
| Abnormal branching pattern of the aortic arch 0.526480727044829 0.0913926245607339 0.927180621972544 1.0 1.0 2 Q96DF8 1 |
| Multifactorial inheritance 0.2919454107876222 0.0908588653139431 0.9276047356699222 1.0 1.0 13 P42892,P10321,P11274,P35611 4 |
| Abnormal number of granulocyte precursors 0.5252272015042506 0.0900930556838026 0.928213267541072 1.0 1.0 2 Q07020 1 |
| Basal cell carcinoma 0.2923722767451237 0.0900225407523437 0.9282693026211616 1.0 1.0 12 P43246,Q9H1A4,P18074,P19447 4 |
| Allergy 0.3377275580665345 0.09000114561971 0.9282863044519298 1.0 1.0 7 Q01082,Q6P1M0,Q9Y5S9,P16885,O14646,P42345 6 |
| Frontotemporal dementia 0.3039829604862763 0.0892649822419626 0.9288713230607126 1.0 1.0 10 Q14203,Q9UHD9,O96008,P05067 4 |
| Gastrointestinal infarctions 0.5242870573488123 0.0891288263776629 0.9289795284196498 1.0 1.0 2 O15460 1 |
| Glossitis 0.5242870573488123 0.0891288263776629 0.9289795284196498 1.0 1.0 2 O15460 1 |
| Cerebellar vermis atrophy 0.2975329091583766 0.0865579350824035 0.9310229032929692 1.0 1.0 11 P07437,P42858,Q10713,Q8WVX9 4 |
| Abnormality of the pineal gland 0.3718053862547155 0.0834816439627349 0.933468572434582 1.0 1.0 4 Q10471 1 |
| Abnormal pineal morphology 0.3718053862547155 0.0834816439627349 0.933468572434582 1.0 1.0 4 Q10471 1 |
| Pineal cyst 0.3718053862547155 0.0834816439627349 0.933468572434582 1.0 1.0 4 Q10471 1 |
| Ectopic kidney 0.2873774971173048 0.0830276904802548 0.9338295218049883 1.0 1.0 15 Q9UHX1 1 |
| Gait imbalance 0.2804836137437921 0.0821236655114873 0.9345483743279384 1.0 1.0 21 Q9Y4P3,P42858,O15269,Q9NR77 4 |
| Abnormality of body mass index 0.5111352015158008 0.0813030694482694 0.9352009330070497 1.0 1.0 3 P42858 1 |
| Sensory neuropathy 0.2758620207059742 0.0797543962265294 0.93643259526722 1.0 1.0 32 Q96RR1,O95831,Q8IV08,O15269,P00403,Q96RL7,Q15067 7 |
| Chronic leukemia 0.369648607873511 0.0796253247255482 0.936535252944521 1.0 1.0 4 P11274 1 |
| Hyperlordosis 0.270240718868795 0.0794818426762654 0.936649373363238 1.0 1.0 48 Q96AX1,Q9Y4P3,O00443,P41227,P50402,P16278,P11274,Q15042,Q9BTV4,P04066,Q9Y5P6,Q9H2M9,Q8WVQ1,Q96HY6,P50570,Q12756,Q96HA7 17 |
| Agenesis of incisor 0.3520292777432595 0.0789249765093915 0.9370922968241328 1.0 1.0 5 Q12959 1 |
| Protrusio acetabuli 0.5084065335976884 0.0781195735560664 0.9377329373272176 1.0 1.0 3 Q96AY3 1 |
| Squamous cell carcinoma 0.2876237637325629 0.0780058856943462 0.937823371154221 1.0 1.0 14 Q9H1A4,P53634,Q9BUR4 3 |
| Quadriceps muscle weakness 0.3507526610920404 0.0761608386984522 0.9392911383522832 1.0 1.0 5 P12235 1 |
| Recurrent lower respiratory tract infections 0.2731404601940759 0.0758126401911724 0.9395681596500314 1.0 1.0 24 Q9BTW9,Q9BV10,Q13432,P78318,Q96HA7 5 |
| Lower limb spasticity 0.2570571704718276 0.0753205990260975 0.9399596323817292 1.0 1.0 80 O95831,P04062,P07602,Q9P0J0,O75306,Q7KZN9,Q99720,Q96CU9,Q9NZJ7 9 |
| Weakness of facial musculature 0.2559958229810433 0.0752515381328599 0.9400145790626488 1.0 1.0 57 Q15043,O75381,Q96RR1,P07196,Q9UHX1,Q9BQT8,O60313,P12235,Q13510,Q9Y5P6,Q9BUF5,P51798 12 |
| Cutaneous photosensitivity 0.2730259050011046 0.0751383930831338 0.9401046008863824 1.0 1.0 24 Q06136,P22830,Q14108 3 |
| Aplasia hypoplasia affecting the fundus 0.2744105152621469 0.0731789205685966 0.9416637403557302 1.0 1.0 31 P07196,Q9UHX1,P37268,O95721,Q9NVI7,Q15058,Q9Y5P6,Q13509 8 |
| Mixed hearing impairment 0.3311391381548451 0.0721819622582877 0.9424570997574986 1.0 1.0 7 Q96L58,Q9NWM8 2 |
| Shyness 0.5027690191253789 0.0717798686478585 0.9427770939790036 1.0 1.0 3 Q06787 1 |
| Focal tonic seizure 0.5051707928549262 0.0714097459782848 0.943071653244388 1.0 1.0 2 Q00577 1 |
| Truncal titubation 0.5048574114697791 0.0711483387195622 0.9432796968838972 1.0 1.0 2 Q6PJG6 1 |
| Exertional dyspnea 0.2794809570038115 0.0709391975137704 0.9434461468377336 1.0 1.0 20 O75844,P12235,P10644 3 |
| Abnormal systemic arterial morphology 0.3027158669778825 0.0702954649356052 0.9439584920369146 1.0 1.0 140 P55011,Q7LGA3,P38435,P16278,O15360,Q06787,Q9NWM8,Q96L58,Q9UHX1,P21964,P61313,Q6ZXV5,P06865,P11274,O95155,Q08AM6,P18074,P05067,Q9Y3Z3,Q9NZJ7,Q96HA7,P55263,P07602,P38571,P61916,P53701,O75844,P42858,O75845,P10644,P21912,P10253,O75648,P17900,Q9UBM7,Q13510,Q9Y4P3,P04062,P10619 39 |
| Iris hypopigmentation 0.3302732678584279 0.0699081611385079 0.9442667573750424 1.0 1.0 7 O95155,Q86YV9 2 |
| Increased endomysial connective tissue 0.5010968348480244 0.0680818525163916 0.9457204764279366 1.0 1.0 2 Q5JTV8 1 |
| Tonic seizure 0.2715334269522704 0.0664087936937192 0.9470523693045148 1.0 1.0 24 Q9BTW9,P07602,Q01105,P43034,P27635,Q12756,Q9NZJ7 7 |
| Upper limb amyotrophy 0.2790892032972079 0.0657861354223521 0.9475480946533024 1.0 1.0 17 P07196,Q9BQT8,Q9NR77 3 |
| Decreased lacrimation 0.3272670222780149 0.0657185449483457 0.9476019075964992 1.0 1.0 6 P55011,Q7Z392,Q96IJ6,O95163,Q10567 5 |
| Abnormality of the radial head 0.3186078848436506 0.0656345332666656 0.9476687948086376 1.0 1.0 8 P10644,Q96L58 2 |
| Photoreceptor layer loss on macular oct 0.4962008069527486 0.0647917418477311 0.9483398166866284 1.0 1.0 3 P04439 1 |
| Abnormal optical coherence tomography 0.4962008069527486 0.0647917418477311 0.9483398166866284 1.0 1.0 3 P04439 1 |
| Septo optic dysplasia 0.4967094954559902 0.0646660655678634 0.9484398820018194 1.0 1.0 2 Q8N3U4 1 |
| Partial agenesis of the corpus callosum 0.2826759474617456 0.0638071558873527 0.9491237802982904 1.0 1.0 15 P18074,Q9HC21,Q15392 3 |
| Heterophoria 0.4954559699154073 0.0637215691801587 0.9491919299250504 1.0 1.0 2 Q9ULH0 1 |
| Abnormal dental root morphology 0.3071860097157864 0.0631674209462419 0.9496331872699786 1.0 1.0 9 Q9BUR4 1 |
| Sparse or absent eyelashes 0.2699495997067361 0.0623812550276928 0.9502592222044473 1.0 1.0 27 O75844,P48449,Q9UM00 3 |
| Trichorrhexis nodosa 0.4934579686161944 0.0619984882455281 0.9505640358924856 1.0 1.0 3 P18074 1 |
| Menorrhagia 0.4932270737990253 0.0617666733399596 0.9507486436142004 1.0 1.0 3 P40818 1 |
| Abnormality of the ulna 0.2739788898666054 0.0611030764586815 0.9512771190714642 1.0 1.0 37 P10644,Q96L58,P16435,Q9Y4P3,O95202 5 |
| High hypermetropia 0.295306415637093 0.0606496933811428 0.9516381967407648 1.0 1.0 10 Q9Y4P3,P68371 2 |
| Abnormal growth hormone level 0.2718787228654185 0.0605153357697179 0.9517452020565248 1.0 1.0 30 P10644,Q03164,Q9UM00 3 |
| Status epilepticus 0.2666109801804198 0.059528718632177 0.9525309918701832 1.0 1.0 49 Q9Y487,P07602,Q13510,P42892,Q15392 5 |
| Fetal ultrasound soft marker 0.2795908015258009 0.058385371927613 0.953441666405806 1.0 1.0 16 Q15125,O75381 2 |
| Enthesitis 0.4869946725164732 0.0577016912063801 0.953986246554817 1.0 1.0 2 P01889 1 |
| Oligoarthritis 0.4869946725164732 0.0577016912063801 0.953986246554817 1.0 1.0 2 P01889 1 |
| Elevated hemoglobin a1c 0.4884012539185062 0.0570386759437481 0.954514386327994 1.0 1.0 3 O00330,Q9UKG1 2 |
| Eversion of lateral third of lower eyelids 0.4851143842055921 0.0564460246588077 0.9549864929996196 1.0 1.0 2 P61978 1 |
| Abnormal cellular phenotype 0.3311587235683808 0.0564417321724771 0.9549899124568058 1.0 1.0 186 P23786,Q9Y5L0,O14773,P02786,P13073,P49748,Q14108,P09601,Q14739,Q7KZN9,P33991,P42345,Q9UJS0,O43676,O43772,Q9Y2R0,Q70HW3,P15586,Q9UBX3,Q9GZY8,P51798,Q9NZJ7,Q96HA7,P07602,Q9BV10,Q9P0J0,O75844,O75306,P12235,P00403,P21912,Q15904,Q9UJW0,O75503,O00443,Q4J6C6,Q13510,P04062,Q96CU9 39 |
| Increased c peptide level 0.4844876214353083 0.0560339460715894 0.9553147645781636 1.0 1.0 2 Q16836 1 |
| Steppage gait 0.2769541942002833 0.0556913321912485 0.9555877046966816 1.0 1.0 19 P07196,Q15120,O15269,Q9NR77 4 |
| Tetraplegia tetraparesis 0.2660910738802272 0.0553967057076734 0.9558224202739054 1.0 1.0 49 Q13423,O95831,P07602,P51572,Q9UBX3,Q9NZJ7 6 |
| Central nervous system cyst 0.2496825155200766 0.0544894860509392 0.9565451850619489 1.0 1.0 59 P23786,Q9UHX1,Q9Y487,Q15125,Q9UBM7,P07437,O43505,O95202 8 |
| Upper extremity joint dislocation 0.2761256608557321 0.0544498575461177 0.9565767571630082 1.0 1.0 20 O75419,P10644,Q96L58,Q9Y619,Q8WVQ1 5 |
| Aplasia hypoplasia of the scapulae 0.3542205661633545 0.0542755161099576 0.9567156561071944 1.0 1.0 4 Q08AM6,P16435 2 |
| Fulminant hepatic failure 0.484639498432613 0.0535064384530721 0.9573284008561398 1.0 1.0 3 Q96RP9,Q16836 2 |
| Abnormal hand morphology 0.2812655801788642 0.0531653198798138 0.957600187245228 1.0 1.0 113 O95831,P21912,Q9UHX1,O00443,Q9BV10,Q15125,P13073,P16435,Q9UBM7,O75844,P51798,Q13510,Q8WVQ1,O95202,Q03164,P38435 16 |
| Recurrent bronchopulmonary infections 0.3531283367276242 0.0526281493074378 0.9580281881401876 1.0 1.0 4 P18074,Q96AX1 2 |
| Abnormal glial cell morphology 0.2450692506033266 0.0525521786511701 0.9580887201884682 1.0 1.0 61 O95831,P49770,P20585,P04062,O43819,O75306,Q9UHD9,O75874,Q7KZN9,P42858,Q10713,P48735,P42345,Q9NR50,Q16134 15 |
| Proximal muscle weakness in upper limbs 0.2797765560194453 0.0523363242669554 0.9582607103850986 1.0 1.0 15 P50402,Q9Y5P6,Q9BTV4 3 |
| Abdominal obesity 0.338770388958605 0.0517128801389005 0.9587574741060612 1.0 1.0 5 P54132,O75312,Q13620,P40818 4 |
| Palpebral edema 0.3387703889586031 0.0517128801388969 0.958757474106064 1.0 1.0 5 A6NHR9,Q14331,Q01082,Q12756 4 |
| Hypermethioninemia 0.3385192944137886 0.0512295063589099 0.9591426400334846 1.0 1.0 5 Q6PGP7,Q9UJS0 2 |
| Crumpled long bones 0.4750861798809239 0.0502309450037808 0.9599383521249548 1.0 1.0 2 O75718 1 |
| Micronodular cirrhosis 0.3220338983050794 0.049072653897456 0.9608613961717404 1.0 1.0 7 Q9NWH9,P37837,P54098,P25054,P35222,P11717 6 |
| Gonadal neoplasm 0.266656004684245 0.0480813797054286 0.9616513858828436 1.0 1.0 26 Q13423,P10644,O75874 3 |
| Weakness of muscles of respiration 0.2716132918179937 0.0476483449467928 0.9619965020634778 1.0 1.0 34 O95831,Q9Y5L0,P10253,P50402,P12235,Q13510,Q15067 7 |
| Distal joint laxity 0.4675650266374415 0.0460778972835246 0.9632481627055948 1.0 1.0 2 O75340 1 |
| Abnormality of dna repair 0.3356657058187482 0.0458195214350822 0.9634540992952904 1.0 1.0 5 P18074,O15360,P19447 3 |
| Abnormal morphology of the olfactory bulb 0.3483930412183653 0.0457079677295076 0.9635430131188432 1.0 1.0 4 Q13509 1 |
| Large intestinal polyposis 0.2797350096330838 0.0451481507915129 0.963989221744816 1.0 1.0 12 Q07864,P21912,P20585 3 |
| Prominent metopic ridge 0.2787574075879362 0.044213715901056 0.9647340490374066 1.0 1.0 14 O75845,O00330,P28482,P61978,P18074,P30153 6 |
| Sandal gap 0.2677861267942285 0.0440157529290359 0.9648918470153108 1.0 1.0 28 Q9BV10,Q96L58,Q14739 3 |
| Nevus 0.2684173550862347 0.0431587632807341 0.9655749765737354 1.0 1.0 29 P10644,P21912,Q9UHX1,Q96AY3,Q9Y4P3,P11802,P18074 7 |
| Increased circulating igm level 0.3177932066590194 0.0430444027004323 0.9656661383979556 1.0 1.0 6 Q9Y5L0 1 |
| Chromosome breakage 0.2788657055408818 0.0422465962522992 0.966302117257706 1.0 1.0 12 P13073,Q06787,P33991 3 |
| Pili torti 0.4578502036979117 0.0413141013917364 0.9670454913838162 1.0 1.0 2 Q9Y276 1 |
| Vertical supranuclear gaze palsy 0.278410403074241 0.0407365857247035 0.9675058946012484 1.0 1.0 12 P61916,Q96RR1,Q96RL7 3 |
| Developmental regression 0.2867983528554426 0.0406419426732402 0.9675813463453448 1.0 1.0 122 Q15043,O14773,P16278,P13073,Q9NZ08,P06280,O95470,Q9GZY8,Q9NZJ7,O75381,O95831,P07602,O75306,P42858,Q9NR50,Q96IX5,O75503,P17900,Q13510,Q9Y4P3 20 |
| Duplication of hand bones 0.2498252223167087 0.0370823013869258 0.9704193837694636 1.0 1.0 58 O75845,Q9UHX1,P21964,P61313,Q15125,Q9UBM7,Q14739,O15360,Q9UM00,Q8WVQ1,Q10713,O95202,Q15067 13 |
| 11 pairs of ribs 0.2874559085764835 0.0365680865197609 0.9708293897705992 1.0 1.0 10 Q14739 1 |
| Dysphagia 0.2998484188570603 0.0339860846240591 0.9728882471529628 1.0 1.0 141 P04350,O43819,Q14108,Q14739,O75874,Q12959,Q9UPN3,Q96RL7,Q99720,Q15067,Q96RR1,Q9UHX1,Q8IZA0,O60313,P15586,Q9GZY8,P48735,P05067,Q03164,Q9NR77,Q9NZJ7,P07602,P61916,O76024,O75306,P12235,P42858,P21912,Q9UBB4,Q01105,Q9BUF5,Q13510,P04062,Q9UHD9 34 |
| Abnormal thyroid stimulating hormone level 0.4605351644719079 0.0339146869226191 0.9729451814550945 1.0 1.0 3 P10644 1 |
| Morphological abnormality of the pyramidal tract 0.2720114438970927 0.0334886464798196 0.9732849195516564 1.0 1.0 18 O95831,Q9UBB4,Q9Y619,Q14203,Q13045,P35637,Q9Y4P3 7 |
| Conspicuously happy disposition 0.4374804136634423 0.0332956329135344 0.9734388362607986 1.0 1.0 2 P55795 1 |
| Paraplegia 0.2531220024640039 0.033007990656762 0.9736682154923056 1.0 1.0 56 O95831,Q9P0J0,Q9Y619,O75306,Q7KZN9,P04062,Q96CU9 7 |
| Carcinoid tumor 0.4579937304075354 0.0321407728608325 0.9743597881529856 1.0 1.0 3 P25054,Q9UER7 2 |
| Aplasia of the phalanges of the hand 0.4579937304075353 0.0321407728608325 0.9743597881529856 1.0 1.0 3 Q9BXW9,Q08AM6 2 |
| Unconjugated hyperbilirubinemia 0.4567398119122326 0.0312850098364259 0.9750422449747892 1.0 1.0 3 O14936,Q9NSD9 2 |
| Immunologic hypersensitivity 0.265662424542449 0.0312712389869558 0.97505322714961 1.0 1.0 28 P21964,Q9Y5L0,P42345,P18074,Q9NZ08,Q9UID3 6 |
| Open bite 0.2741952669639005 0.0310956990721515 0.9751932196557396 1.0 1.0 15 P10644 1 |
| Food allergy 0.3374098463468148 0.031022524771432 0.9752515761463968 1.0 1.0 4 Q9Y5S9,Q6P1M0,Q01082 3 |
| Alacrima 0.327164366373905 0.0306073186996591 0.9755827054074602 1.0 1.0 5 O95163,P55011,Q7Z392,Q96IJ6 4 |
| Narrow nose 0.3115782867900915 0.029213384909535 0.976694406176227 1.0 1.0 6 Q9Y4A5,O75431,P49589,Q07864,Q9Y4L1 5 |
| Hypoplastic hippocampus 0.4529482713353401 0.0287744536525468 0.9770444754732804 1.0 1.0 3 Q96RL7 1 |
| Abnormal trabecular bone morphology 0.310266738239796 0.0264006811273067 0.9789377508793646 1.0 1.0 6 Q9BUR4 1 |
| Ectodermal dysplasia 0.4105296145409075 0.0260729298556251 0.9791991685661257 1.0 1.0 2 Q9Y6K9 1 |
| Abnormal placental membrane morphology 0.4105296145409007 0.0260729298556237 0.9791991685661268 1.0 1.0 2 Q9Y244 1 |
| Staring gaze 0.4478414674330586 0.0255721693011477 0.9795985844887484 1.0 1.0 3 P42858 1 |
| Elevated circulating aspartate aminotransferase concentration 0.2735980741190638 0.025186607888815 0.9799061189255144 1.0 1.0 12 Q15904 1 |
| Cholangitis 0.4058288937637236 0.0251349932621801 0.979947288405654 1.0 1.0 2 Q9Y276 1 |
| Weak cry 0.2834691979963158 0.025011346765265 0.980045913030736 1.0 1.0 10 O75208,O60313,Q13510 3 |
| Neoplasm of the small intestine 0.3091407001833504 0.0240153337131864 0.9808403777002168 1.0 1.0 6 P21912 1 |
| Male reproductive system neoplasm 0.2721003236292377 0.0234133621648959 0.9813205464620836 1.0 1.0 15 Q13423 1 |
| Reduced pancreatic beta cells 0.3932936383578896 0.023016982762959 0.981636726251922 1.0 1.0 2 O00330 1 |
| Patellar subluxation 0.3914133500470124 0.022743092037918 0.9818552022389472 1.0 1.0 2 P25490 1 |
| Abnormal tracheal morphology 0.2679124725680117 0.0223631182894054 0.9821583003304764 1.0 1.0 35 Q92990,P55011,Q96L58,Q15125,Q9UBM7,Q14739,Q9H2M9,Q96HY6,Q9Y4P3,Q9BUR4,Q96HA7 11 |
| Tip toe gait 0.3860858664995341 0.0220231820967854 0.9824294633819264 1.0 1.0 2 Q9ULH0 1 |
| Subacute progressive viral hepatitis 0.3218318695106724 0.0217517293149125 0.9826459994917208 1.0 1.0 5 Q9NWH9,P25054,P35222,P11717 4 |
| Viral hepatitis 0.3218318695106724 0.0217517293149125 0.9826459994917208 1.0 1.0 5 Q9NWH9,P25054,P35222,P11717 4 |
| Reticular hyperpigmentation 0.3838921968035264 0.0217496946966488 0.982647622498258 1.0 1.0 2 Q9H488 1 |
| Neoplasm of the tracheobronchial system 0.3575681604512717 0.0193363551112825 0.984572782159478 1.0 1.0 2 P30154 1 |
| Abnormality of taste sensation 0.3534942024443798 0.0190808754876054 0.984776587803611 1.0 1.0 2 Q12756 1 |
| Skin pit 0.2714315454625043 0.0184322940008966 0.9852939899277222 1.0 1.0 12 O95202 1 |
| Glaucoma 0.2579684822384966 0.0184185869901065 0.9853049246836912 1.0 1.0 88 O75381,Q06136,Q96L58,O00443,Q15125,P53701,Q86XL3,Q9UBM7,Q8NCH0,O43505,P12235,Q9Y5P6,Q8WVQ1,Q9Y4P3 14 |
| Reduced antigen specific t cell proliferation 0.3371983704168023 0.0182913891284797 0.9854063967988808 1.0 1.0 2 P17812 1 |
| Abnormal t cell proliferation 0.3371983704168023 0.0182913891284797 0.9854063967988808 1.0 1.0 2 P17812 1 |
| Hypopigmented macule 0.4338557993730533 0.0178020624666545 0.9857967594109812 1.0 1.0 3 Q9H488,Q15233 2 |
| Prolonged bleeding following procedure 0.3187088686932018 0.0177381452483111 0.9858477499212176 1.0 1.0 2 P49257 1 |
| Abnormality of the proximal phalanx of the thumb 0.3118144782199968 0.017598828075944 0.9859588915928112 1.0 1.0 2 Q15233 1 |
| Abnormal dura mater morphology 0.3111877154497083 0.0175876023872508 0.9859678470104508 1.0 1.0 2 Q8N3U4 1 |
| Median cleft lip 0.3111877154497083 0.0175876023872508 0.9859678470104508 1.0 1.0 2 Q8N3U4 1 |
| Panhypopituitarism 0.3111877154497083 0.0175876023872508 0.9859678470104508 1.0 1.0 2 Q8N3U4 1 |
| Cyclopia 0.3111877154497083 0.0175876023872508 0.9859678470104508 1.0 1.0 2 Q8N3U4 1 |
| Yellow white lesions of the retina 0.3102475712942687 0.0175711812015147 0.985980947196655 1.0 1.0 2 P06400 1 |
| Absent septum pellucidum 0.2654894234337954 0.0174086390776665 0.9861106172132624 1.0 1.0 31 P55011,P51571,Q9NX14,P53701,O43505,Q6P1N0,Q9NUQ7,Q9NZ01,O95202,Q15392 10 |
| Stomatocytosis 0.2955186461924188 0.0173705758649584 0.986140982671434 1.0 1.0 2 P11166 1 |
| Aplasia hypoplasia of the gallbladder 0.2923848323409611 0.0173394327502021 0.9861658275400008 1.0 1.0 2 A5YKK6 1 |
| Moderate global developmental delay 0.2904976951858168 0.0172231215283417 0.9862586166117028 1.0 1.0 9 O95831 1 |
| Abnormal circulating dicarboxylic acid concentration 0.2660841559516964 0.0148730760002786 0.9881334397864556 1.0 1.0 42 O75845,P23786,P55263,Q9Y5L0,O75648,P37268,P28288,P43034,Q14739,P41440,P48735,P00390,Q9UJS0,Q16134 14 |
| Abnormal labia morphology 0.2676291387162924 0.0139894090749663 0.9888384305453408 1.0 1.0 19 O75419,Q9Y619,Q15042,P16435,Q08AM6,Q9H2M9 6 |
| Constipation 0.2607447393288692 0.0137170812292145 0.9890556958793152 1.0 1.0 92 Q9BTW9,Q7LGA3,Q13724,Q13423,Q96RR1,P21964,P16435,O95155,Q03164,P49366,P37268,O76024,Q8NCH0,P12235,P00403,P42892,Q9UID3,Q8WVX9,P21912,Q10471,Q9UBM7,Q9Y4P3,P04062,P78318 24 |
| Dilated third ventricle 0.4247648902821355 0.0134838829661523 0.9892417439648546 1.0 1.0 3 Q9ULH0,P26358 2 |
| Addictive behavior 0.2971512241969541 0.0114741970137289 0.9908451162399654 1.0 1.0 8 P10644,P42858 2 |
| Bell shaped thorax 0.3195684453167255 0.0110626491508864 0.991173463076473 1.0 1.0 4 Q8WVQ1 1 |
| Hypopituitarism 0.2661251696873608 0.0098996325803197 0.992101365021378 1.0 1.0 36 P10644,Q03164,Q9UM00 3 |
| Congenital hepatic fibrosis 0.3178631902783052 0.0093951536762252 0.9925038622148536 1.0 1.0 4 Q10713 1 |
| Widow s peak 0.4106583072100432 0.0078139393181338 0.9937654419036503 1.0 1.0 3 P29372,O15344 2 |
| Lumbar scoliosis 0.4106583072100386 0.0078139393181319 0.993765441903652 1.0 1.0 3 P27635,P36776 2 |
| Impaired distal vibration sensation 0.3010337787049738 0.007646083166299 0.993899367734178 1.0 1.0 6 Q96RR1 1 |
| Woolly hair 0.3007083101864496 0.0070183299056998 0.9944002288969374 1.0 1.0 6 Q96A33 1 |
| Abnormal eating behavior 0.2607518700963315 0.0064992122218636 0.994814415417127 1.0 1.0 24 P35610,Q4J6C6,O95155,P42858,Q9UJS0 5 |
| Neoplasm of the skin 0.2652056078978265 0.0064722695433286 0.994835912112224 1.0 1.0 41 P10644,Q06136,P21912,P20585,P16615,P53634,Q9H1A4,Q9BUR4,P11802,P18074 10 |
| Abnormality of the nail 0.2795423010070162 0.0060472160981972 0.995175049046557 1.0 1.0 117 P10644,Q06136,P23786,Q96L58,Q9Y487,Q9BV10,Q9Y619,Q15125,O95202,O75844,Q14739,Q9BUR4,Q9Y4P3,P42892 14 |
| Renal tubular atrophy 0.3142050799623652 0.005953132775721 0.9952501153256784 1.0 1.0 4 Q96AX1,P57740,Q8WUM0 3 |
| Ketosis 0.2652717515515563 0.0055922770868802 0.9955380317096 1.0 1.0 18 P35610,P53985,P12235 3 |
| Polygenic inheritance 0.3099121706399061 0.0038341374612751 0.996940808410985 1.0 1.0 5 P11274,P04637,P35658,P50454 4 |
| Torsion dystonia 0.3983303863865652 0.0037776375176604 0.9969858885171864 1.0 1.0 3 P04350 1 |
| Renal fanconi syndrome 0.3959247648902951 0.0030804766406742 0.9975421391357376 1.0 1.0 3 P16930,Q9Y276 2 |
| Abnormal renal resorption 0.3959247648902951 0.0030804766406742 0.9975421391357376 1.0 1.0 3 P16930,Q9Y276 2 |
| Maturity onset diabetes of the young 0.3946708463949895 0.0027281272541573 0.9978232720841168 1.0 1.0 3 O00330,Q9UKG1 2 |
| Abnormal foveal morphology 0.3104421448729909 0.0026008773355033 0.997924802469094 1.0 1.0 4 Q9Y6K9,Q16851,Q86YV9 3 |
| Moderate albuminuria 0.3934169278996942 0.0023832053915486 0.9980984790128626 1.0 1.0 3 O00330,Q5JRA6 2 |
| Paronychia 0.3934169278996917 0.0023832053915481 0.9980984790128632 1.0 1.0 3 P54132,Q12756 2 |
| Abnormality of the periungual region 0.3934169278996917 0.0023832053915481 0.9980984790128632 1.0 1.0 3 P54132,Q12756 2 |
| Porencephalic cyst 0.3101783533671391 0.0023729144647807 0.99810668996123 1.0 1.0 4 Q9Y3Z3 1 |
| Diplopia 0.2641968349237653 0.0019281695084651 0.998461544271873 1.0 1.0 21 Q9NW15,P04062 2 |
| Simple febrile seizure 0.3862068965517318 0.0005387360011814 0.9995701508831016 1.0 1.0 3 P11166,Q96CW1 2 |
| Abnormality of long bone morphology 0.3177185738677169 0.0001494816857617 0.999880730871252 1.0 1.0 173 Q7LGA3,P16278,Q9HC07,Q14739,O75874,O95202,Q96L58,Q9UHX1,Q15125,P16435,Q8WVQ1,Q9BUR4,P48735,P51798,Q9NR77,Q96HA7,O75381,O95831,Q9Y487,Q9BV10,Q13126,O75844,P42858,P10644,O00443,Q9Y619,Q9H490,Q9Y4P3,P38435 29 |
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