| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Muscle abnormality related to mitochondrial dysfunction 0.617031746845053 3.092272514622054 0.001986304098001 0.9998683452636896 0.9440306634020772 35 O60313,Q9Y6M9,Q86Y39,Q9Y2R0,Q96CU9,O43676,P03886,Q15526,Q9UBX3,P00846,O75306,Q53H12,P12235,Q9Y375,Q8IUX1,Q9NX14,O96000,Q9NPL8,P00403 19 |
| Impaired proprioception 0.5627485982441357 2.6620968823788766 0.0077655523682971 0.9999999999999994 0.9440306634020772 35 Q9NR77,O14773,O00165,P00846,Q9H6K4,P54802,P41440,Q15120,O00400,O75298,Q8IV08,O43819,P07196,Q9Y619 14 |
| Corneal opacity 0.5626814466333143 2.464819071369817 0.0137082451960013 1.0 0.9440306634020772 48 O75381,P16278,Q96J42,P53701,Q9Y5Y5,Q6NUK1,O95202,Q13510,P56589,P04062,P40855,P10619,O75844,Q9NVI7,Q9NX14,Q06136,Q9UBM7,P51648,Q9Y4P3 19 |
| Mitochondrial myopathy 0.620924521552493 2.4631929070475853 0.0137705803659948 1.0 0.9440306634020772 27 O96000,P00846,O60313,Q9Y6M9,O75306,Q86Y39,Q53H12,P12235,Q9NPL8,Q96CU9,O43676,P03886,Q8IUX1,Q9NX14,P00403 15 |
| Unexplained fevers 0.8748973329711984 2.457934810300197 0.0139738537157434 1.0 0.9440306634020772 6 Q9HC07,P07602 2 |
| Decreased activity of mitochondrial complex i 0.5388017289186922 2.418591121001899 0.015580742679115 1.0 0.9440306634020772 38 O96000,Q9Y6M9,O75306,Q86Y39,Q99757,Q9Y584,Q9NPL8,Q70HW3,Q96CU9,Q9UBX3,O43676,P03886,Q8IUX1,Q9NX14 14 |
| Generalized myoclonic seizure 0.5299997058356526 2.391908784159805 0.0167610073689505 1.0 0.9440306634020772 35 P04062,P07602,P00846,P21912,Q8NHS3,P03886,P16278,Q9NZJ7,Q01105,Q9Y619 10 |
| Abnormal choroid morphology 0.6691500436282254 2.371621197804892 0.0177102372576625 1.0 0.9440306634020772 23 P56589,P53701,O75381,Q9Y5Y5,Q5XKP0,P40855,Q10713,Q96J42,Q9NX14,Q9Y619 10 |
| Abnormal chorioretinal morphology 0.6691500436282254 2.371621197804892 0.0177102372576625 1.0 0.9440306634020772 23 P56589,P53701,O75381,Q9Y5Y5,Q5XKP0,P40855,Q10713,Q96J42,Q9NX14,Q9Y619 10 |
| Increased cerebral lipofuscin 0.8703703703703622 2.3664221159566226 0.017960952889992 1.0 0.9440306634020772 5 Q9NZJ7,O14773,P07602,P50897 4 |
| Abnormal circulating cholesterol concentration 0.5882901693751397 2.348508599587896 0.0188487639398113 1.0 0.9440306634020772 28 Q15904,P07602,Q9BV10,P50402,P57740,Q9UBM7,O75431,Q15392,Q14739,Q9UJS0,Q15800,Q9NZJ7,Q9NVI7,Q8N511,Q9BTV4 15 |
| Periventricular white matter hyperintensities 0.8378275957603348 2.3290144711713374 0.0198582990867981 1.0 0.9440306634020772 7 P17900,Q9NZJ7,P07602,O43681 4 |
| Sensorimotor neuropathy 0.6165045780148258 2.3219526064509672 0.020235487707376 1.0 0.9440306634020772 26 Q9NR77,P07602,P00846,O60313,Q9Y2R0,P05023,Q15120,P03886,Q9NZJ7,P00403 10 |
| Paraparesis 0.6000915236490532 2.317068092754802 0.0205000227899363 1.0 0.9440306634020772 27 P04062,Q9H6K4,P21912,Q9Y5Y5,Q5XKP0,Q9Y619 6 |
| Abnormality of lysosomal metabolism 0.8582555915285582 2.3141732753211044 0.0206582192881128 1.0 0.9440306634020772 5 Q9NZJ7,Q13510,P07602 3 |
| Optic disc pallor 0.5532237876281928 2.3133119832192963 0.0207054923213148 1.0 0.9440306634020772 53 Q9UG56,O60313,Q9Y6M9,Q86Y39,O95298,Q96S66,Q96CU9,O43676,P03886,Q10713,Q9H6K4,Q9H061,Q8NHS3,P51798,P00846,O75306,Q8IUX1,Q9NX14,O96000,Q9Y287,Q9NPL8 21 |
| Ventricular hypertrophy 0.5663692933134529 2.3087783225278793 0.0209558855276197 1.0 0.9440306634020772 29 O75880,P10253,Q9BV10,O43772,P21912,O75431,P12235,P23786,Q6NUK1,P03886,O75844,P00403 12 |
| Abnormal circulating long chain fatty acid concentration 0.8384477770579604 2.2994651437077147 0.0214785404764741 1.0 0.9440306634020772 6 O75381,P56589,P40855,Q9Y5Y5 4 |
| Poor eye contact 0.5239466317220868 2.2939891379484445 0.021791122667877 1.0 0.9440306634020772 38 O96000,Q9UHX1,Q9Y6M9,O75306,Q86Y39,Q9P0J0,Q9NPL8,Q96CU9,Q5XKP0,O43676,P03886,Q8IUX1,Q9NX14,Q15907 14 |
| Brushfield spots 0.849663133985096 2.276922242988565 0.0227908693659393 1.0 0.9440306634020772 5 O75381,P40855,Q9Y5Y5 3 |
| Progressive neurologic deterioration 0.6924007799621349 2.265030827853751 0.023510787808203 1.0 0.9440306634020772 20 Q9NZJ7,P04062,P07602,Q9Y287,P21912,P54802,Q5XKP0,P16278,Q10713,O43681 10 |
| Young adult onset 0.7897143166191785 2.218506792456598 0.0265202969719537 1.0 0.9440306634020772 10 Q9NZJ7,Q9H0U3,P38435,P07602 4 |
| Very long chain fatty acid accumulation 0.8125629778409784 2.215929872145325 0.0266963053244804 1.0 0.9440306634020772 7 O75381,P40855,Q5T8D3,Q9Y5Y5 4 |
| Spastic paraparesis 0.65724638034297 2.2112017137120747 0.0270218717744805 1.0 0.9440306634020772 22 P04062,Q9H6K4,Q9Y5Y5,Q5XKP0,Q9Y619 5 |
| Abnormality of the 5th toe 0.8069620421280066 2.1600932410144575 0.0307654521616134 1.0 0.9440306634020772 6 Q14739,Q10713,Q96J42,O43924 4 |
| Postaxial foot polydactyly 0.8069620421280066 2.1600932410144575 0.0307654521616134 1.0 0.9440306634020772 6 Q14739,Q10713,Q96J42,O43924 4 |
| Recurrent aspiration pneumonia 0.802188335541423 2.1387603283000662 0.0324550839275425 1.0 0.9440306634020772 6 Q6NUK1,P04062 2 |
| Capillary hemangioma 0.7999617074729041 2.1287916884662135 0.0332714988910949 1.0 0.9440306634020772 6 P16435,Q7LGA3,Q9UHX1 3 |
| Dysostosis multiplex 0.7933055131937491 2.128703885221325 0.0332787671991603 1.0 0.9440306634020772 7 P16278,P54802 2 |
| Abnormality of krebs cycle metabolism 0.8135034463235147 2.118399883036635 0.03414121577997 1.0 0.9440306634020772 5 P00846 1 |
| Respiratory distress 0.5209947480692554 2.1157964916683305 0.0343621196235124 1.0 0.9440306634020772 48 O43819,P03886,Q9Y619,P51970,P53701,Q15526,Q9UHX1,Q969X5,P53007,Q9NZJ7,Q13510,Q96L58,P10253,P04062,P00846,O75306,P51571,Q9NX14,P07602,P23786 20 |
| Posterior embryotoxon 0.6786836673698219 2.114005671833237 0.0345147828896563 1.0 0.9440306634020772 19 P53701,O75381,Q9Y5Y5,P21964,Q7LGA3,P40855,Q9NX14,P56589 8 |
| Abnormality of female external genitalia 0.4910329123764886 2.107548682443949 0.0350700464883426 1.0 0.9440306634020772 32 P56589,P53701,O75381,P16435,Q9UBM7,Q15392,Q9Y5Y5,Q6NUK1,P40855,Q9NX14,Q9Y619 11 |
| Slow pupillary light response 0.9348754448398584 2.0970544831685864 0.0359887526185578 1.0 0.9440306634020772 3 Q9NR77,P07602 2 |
| Abnormal pupillary light reflex 0.9348754448398584 2.0970544831685864 0.0359887526185578 1.0 0.9440306634020772 3 Q9NR77,P07602 2 |
| Schizophrenia 0.7082510906256583 2.0932007236540975 0.0363312401853304 1.0 0.9440306634020772 16 Q9BQE5,P04062,P07602,O76024,P21964,P16615,Q9NZJ7 7 |
| Bilateral tonic clonic seizure with focal onset 0.9339187770912554 2.093192282882355 0.0363319933635422 1.0 0.9440306634020772 3 P07602 1 |
| Abnormal epiphyseal ossification 0.7079222692267838 2.091418561424392 0.0364905597325111 1.0 0.9440306634020772 16 Q9UG56,Q96HY6,O75381,Q9UBM7,Q9Y5Y5,Q14739,P38435,P40855,P56589 9 |
| Bulbar signs 0.7586681953299177 2.069961747311415 0.0384559267802335 1.0 0.9440306634020772 10 Q99720,P04062,P07602,P00846,P03886,Q9NZJ7 6 |
| Undetectable electroretinogram 0.8019334226969538 2.0670795231764134 0.0387266612481134 1.0 0.9440306634020772 5 O14773,O43924,P50897 3 |
| Abnormal activity of mitochondrial respiratory chain 0.5358696383006265 2.0665034211093105 0.038780969709572 1.0 0.9440306634020772 60 Q9UMS0,P20674,Q9Y6M9,Q86Y39,Q99757,Q9Y2R0,O95298,Q70HW3,Q96CU9,O43676,P03886,Q15526,P21912,Q9Y584,Q3ZCQ8,Q9UBX3,O75306,Q9P0J0,Q9Y375,Q8IUX1,Q9NX14,P13073,Q7KZN9,O96000,Q9NPL8,O00483 26 |
| Segmental peripheral demyelination remyelination 0.7859897417840468 2.0659749512387022 0.0388308448301388 1.0 0.9440306634020772 6 Q9NR77,P00846 2 |
| Optic neuropathy 0.6073081016162489 2.064012206224221 0.0390165590836912 1.0 0.9440306634020772 24 O96000,P00846,Q9Y6M9,O75306,Q86Y39,Q99757,Q9P0J0,Q9NPL8,Q96CU9,O43676,P03886,Q8IUX1,Q9NX14 13 |
| Pigmentary retinopathy 0.5092113396651925 2.0450519028177943 0.0408497413720458 1.0 0.9440306634020772 46 Q9UG56,P53701,Q7KZN9,Q15555,P00846,O76024,O75306,P21912,Q9P0J0,Q96S66,Q96CU9,Q8NHS3,P03886,Q9NX14,P00403 15 |
| Hypocholesterolemia 0.7603250231188573 2.0413864298748607 0.0412124322127449 1.0 0.9440306634020772 9 P07602,Q9BV10,Q15800,Q9NZJ7,Q9NVI7 5 |
| Abnormal retinal artery morphology 0.6296041189652868 2.038716776657041 0.0414783024011862 1.0 0.9440306634020772 22 P17900,P07602,P00846,P21964,P03886,P16278,Q9NZJ7,Q13510,P10619 9 |
| Abnormality of fontanelles 0.5006813890232003 2.032842667889977 0.0420684208382633 1.0 0.9440306634020772 42 P56589,O75718,Q9Y487,P20674,O75381,P16435,Q32P28,Q9Y5Y5,Q6NUK1,P40855,Q9BT22,O75844,Q8NCH0,Q9Y619 14 |
| Reduced brain n acetyl aspartate level by mrs 0.9166621316119564 2.0232963125249097 0.0430426068505576 1.0 0.9440306634020772 3 P07602 1 |
| Abnormal brain choline level by mrs 0.9166621316119564 2.0232963125249097 0.0430426068505576 1.0 0.9440306634020772 3 P07602 1 |
| Abnormal brain n acetyl aspartate level by mrs 0.9166621316119564 2.0232963125249097 0.0430426068505576 1.0 0.9440306634020772 3 P07602 1 |
| Cortical cataract 0.9161333785996472 2.0211479011351994 0.043264456983336 1.0 0.9440306634020772 3 Q9H6K4 1 |
| Central scotoma 0.7222754473803917 2.0141739121585593 0.0439912776346762 1.0 0.9440306634020772 13 P00846,Q9H6K4,O75306,Q9Y287,Q9H061,Q8NHS3,P03886 7 |
| Abnormal tissue metabolite concentration 0.7035011873167241 2.0133570036342823 0.0440770854590757 1.0 0.9440306634020772 15 P17900,P07602,O75381,Q9Y5Y5,P40855,Q9NZJ7,Q5T8D3,P56589,O43681 9 |
| Nyctalopia 0.4787325119231297 2.0002022432271267 0.045478429698017 1.0 0.9440306634020772 32 Q15555,O75381,Q9Y287,Q9Y5Y5,P38435,P40855,Q10713,P56589 8 |
| Mitochondrial inheritance 0.7711138559489786 1.9985948767189412 0.0456522051706502 1.0 0.9440306634020772 6 P00403,P00846,P03886 3 |
| Visual field defect 0.5049600864937911 1.9931649626197665 0.0462433863762534 1.0 0.9440306634020772 47 Q15555,P00846,O75381,Q9H6K4,O75306,Q9Y287,Q9Y5Y5,P40855,Q9H061,Q8NHS3,P03886,P00403,P56589 13 |
| Progressive psychomotor deterioration 0.7566891528930323 1.990787383242847 0.0465042670176945 1.0 0.9440306634020772 8 Q9NZJ7,P07602,P21912,P16278,Q10713 5 |
| Abnormal midbrain morphology 0.7678658365885161 1.9838148136959035 0.047276488102091 1.0 0.9440306634020772 6 P04062,O43924 2 |
| Abnormal enchondral ossification 0.5818376469802882 1.983588909630946 0.0473016865533191 1.0 0.9440306634020772 25 P56589,Q9UG56,O75381,Q96HY6,Q9UBM7,Q9Y5Y5,Q14739,P38435,P40855,O95202,Q9Y619 11 |
| Polyneuropathy 0.6961837738472877 1.9741093726320464 0.0483693078414173 1.0 0.9440306634020772 15 Q9HC21,P07602,P00846,O60313,P03886,Q9NZJ7 6 |
| Clonic seizure 0.7808889701868735 1.9729992268048544 0.0484956504295313 1.0 0.9440306634020772 5 P07602 1 |
| Hypersplenism 0.7575708935359649 1.9644870572083624 0.0494736357753551 1.0 0.9440306634020772 7 Q14108,P04062,P07602 3 |
| Epiphyseal stippling 0.7105041247465863 1.9534908364745571 0.0507614620530181 1.0 0.9440306634020772 13 O75381,Q9UBM7,Q9Y5Y5,Q14739,P38435,P40855,P56589 7 |
| Abnormality of head blood vessel 0.5905697494283471 1.9521774884569727 0.050917135902619 1.0 0.9440306634020772 24 P17900,P07602,P00846,P21964,P03886,P16278,Q9NZJ7,Q13510,P10619 9 |
| Erlenmeyer flask deformity of the femurs 0.8853684585261742 1.9482603035590704 0.0513838244462314 1.0 0.9440306634020772 4 Q9NZJ7,P04062,P07602 3 |
| Progressive cerebellar ataxia 0.4782213479325043 1.947272396536757 0.0515020862059216 1.0 0.9440306634020772 35 Q9Y487,O14773,Q8NI60,Q15526,Q7KZN9,O76024,O75306,Q9P0J0,Q96CU9,Q9UBB4,P41440,O00483,Q9Y619 13 |
| Disproportionate short stature 0.6492551234609008 1.941972350890763 0.0521404475715241 1.0 0.9440306634020772 19 O75718,Q9BV10,Q9UHX1,Q96HY6,Q32P28,Q9UBM7,Q15392,Q14739,P10644,P16278,Q7LGA3 11 |
| Abnormal retinal vascular morphology 0.5004797413859552 1.9391609484342112 0.0524817431258128 1.0 0.9440306634020772 48 P17900,P07602,Q15555,P00846,O75306,P21912,P21964,P38435,Q9Y4P3,P03886,P16278,Q9NZJ7,Q13510,P10619 14 |
| Hyperintensity of cerebral white matter on mri 0.6698272952838464 1.9379632410907728 0.0526277073826859 1.0 0.9440306634020772 17 P17900,P07602,P21912,O75503,Q9NZJ7,O43681 6 |
| Horizontal nystagmus 0.6008629597427627 1.9352547078636144 0.0529590473205028 1.0 0.9440306634020772 23 O14773,P04062,P07602,P00846,O60313,Q9H061,Q9NZJ7 7 |
| Ventricular preexcitation 0.7448058492354263 1.9347383383046108 0.0530224132048238 1.0 0.9440306634020772 8 P00846,P13473,O75306,P03886,P00403 5 |
| Episodic vomiting 0.7232094220720044 1.934429369575278 0.0530603583430824 1.0 0.9440306634020772 11 P22695,Q9Y619,P00846,P03886 4 |
| Hypopigmentation of the fundus 0.894518716963953 1.9329891459302797 0.0532375349167897 1.0 0.9440306634020772 3 P38435 1 |
| Abnormality of fundus pigmentation 0.894518716963953 1.9329891459302797 0.0532375349167897 1.0 0.9440306634020772 3 P38435 1 |
| Biliary tract abnormality 0.5864326278633974 1.9243265455780985 0.0543136652233506 1.0 0.9440306634020772 24 Q9NZJ7,P04062,P07602,Q14108,P09601,Q14739,Q5XKP0,O95202,Q10713 9 |
| Abnormal biliary tract morphology 0.6224901836564583 1.9178785196352477 0.0551264165128022 1.0 0.9440306634020772 21 Q9NZJ7,P04062,P07602,Q14108,P09601,Q14739,Q5XKP0,Q10713 8 |
| Impaired vibratory sensation 0.5447925769599979 1.917090522950164 0.0552264324109683 1.0 0.9440306634020772 27 Q9NR77,O14773,O00165,P00846,Q15120,O00400,O75298,O43819,P07196,Q9Y619 10 |
| Decerebrate rigidity 0.8761124955500248 1.911358564285133 0.0559585177354022 1.0 0.9440306634020772 4 P16278,Q9NZJ7,P07602 3 |
| Oromandibular dystonia 0.7671012177848074 1.9108530853880936 0.0560234634804395 1.0 0.9440306634020772 5 Q99720,P35637,O60220 3 |
| Abnormal basal ganglia mri signal intensity 0.4995802124971691 1.908079919077364 0.0563808876950326 1.0 0.9440306634020772 30 Q7KZN9,Q8NI60,P00846,O75306,Q9P0J0,Q96CU9,P03886,P16278,Q9BPX6 9 |
| Thickened ribs 0.8737411151479244 1.90188369183256 0.0571863616678709 1.0 0.9440306634020772 4 P16278 1 |
| Aortic valve stenosis 0.7439492157278242 1.9010891599698392 0.0572903352128417 1.0 0.9440306634020772 7 O75844,P04062 2 |
| Progressive pes cavus 0.8829582425469034 1.885577159315032 0.0593519577133796 1.0 0.9440306634020772 3 O00400 1 |
| Respiratory arrest 0.7406017953053118 1.8854428504136669 0.0593700733785158 1.0 0.9440306634020772 7 O43772,P23786,P13473,P53007 4 |
| Abnormality of epiphysis morphology 0.4989738578750252 1.8808685738154045 0.0599897990990077 1.0 0.9440306634020772 51 P56589,Q9UG56,P51798,O75381,P16435,Q96HY6,Q9UBM7,Q9Y5Y5,Q14739,P38435,P40855,O95202,P16278,Q9HC07,Q7LGA3,Q9Y619 16 |
| Abnormal pupillary function 0.8682040077358922 1.879727700448768 0.0601451983474701 1.0 0.9440306634020772 4 Q9NR77,P07602 2 |
| Retinal telangiectasia 0.7584897019056741 1.8718377786672311 0.0612290499093515 1.0 0.9440306634020772 5 P00846,P03886 2 |
| Hepatic failure 0.4874718971593089 1.871385363153112 0.0612916861960004 1.0 0.9440306634020772 45 P56589,P04062,P00846,O75381,O43772,P08574,Q9Y5Y5,P40855,P03886,Q10713,Q13510,Q9Y619,O15118 13 |
| Increased csf lactate 0.4994934546038188 1.8704478632970547 0.0614216506336389 1.0 0.9440306634020772 52 Q9Y6M9,Q86Y39,Q99757,Q96CU9,O43819,O43676,P03886,Q8NI60,P00846,O75306,Q9P0J0,Q8IUX1,Q9NX14,P13073,Q7KZN9,O96000,Q9HC21,Q9NPL8,P00403 19 |
| Venous insufficiency 0.7562857947341355 1.8618283239600573 0.0626272927263889 1.0 0.9440306634020772 5 P04062 1 |
| Mandibular aplasia 0.8768683274021392 1.8605307655418035 0.0628104698931775 1.0 0.9440306634020772 3 P53701,Q9Y619 2 |
| Progressive peripheral neuropathy 0.8758007117437762 1.8561350161933756 0.0634343157738515 1.0 0.9440306634020772 3 Q9NZJ7,P07602 2 |
| Vegetative state 0.8758007117437762 1.8561350161933756 0.0634343157738515 1.0 0.9440306634020772 3 Q9NZJ7,P07602 2 |
| Neoplasm of the gallbladder 0.8758007117437762 1.8561350161933756 0.0634343157738515 1.0 0.9440306634020772 3 Q9NZJ7,P07602 2 |
| Biliary tract neoplasm 0.8758007117437762 1.8561350161933756 0.0634343157738515 1.0 0.9440306634020772 3 Q9NZJ7,P07602 2 |
| Juvenile onset 0.4766237855732142 1.8536973761143296 0.063782467323967 1.0 0.9440306634020772 40 Q9NR77,O14773,O75027,P51798,P50402,P57740,Q9H0U3,P54802,P06280,Q8NHS3,P16278,P41440,Q13510,O15118 14 |
| Centrocecal scotoma 0.8615165539337926 1.852908810913104 0.0638954300182836 1.0 0.9440306634020772 4 O75306,P00846,P03886 3 |
| Raynaud phenomenon 0.7391039823254203 1.851878888949853 0.0640432160626598 1.0 0.9440306634020772 6 O75844 1 |
| Hypoplastic vertebral bodies 0.7380381984022684 1.846953873355038 0.0647538257656299 1.0 0.9440306634020772 6 Q14739,P16278,Q8TAA9 3 |
| Generalized onset motor seizure 0.4828491550802404 1.8461811784388815 0.0648659028837563 1.0 0.9440306634020772 44 P04062,P07602,P00846,Q9Y320,P21912,Q8NHS3,P03886,P16278,Q9NZJ7,Q01105,Q13510,Q9Y619 12 |
| Cherry red spot of the macula 0.7195453732383371 1.8453220593829232 0.0649907034150041 1.0 0.9440306634020772 9 P17900,P07602,P16278,Q9NZJ7,Q13510 5 |
| Hypothermia 0.7171113690366783 1.833488258459781 0.066729993106531 1.0 0.9440306634020772 9 Q5XKP0,P00846,P03886 3 |
| Pedal edema 0.7490401741611711 1.8288515280238025 0.0674218533091024 1.0 0.9440306634020772 5 P04062,Q14108 2 |
| Blurred vision 0.748563478516347 1.8266782451520904 0.0677481610788972 1.0 0.9440306634020772 5 P00846,P03886 2 |
| Cardiac conduction abnormality 0.517624248262866 1.8183301812712311 0.0690136824980243 1.0 0.9440306634020772 28 Q15526,P00846,P50402,O75306,O43772,Q9H490,P21912,P23786,P0DP25,P04899,P06280,O43819,P03886,P00403,Q9BTV4 15 |
| Vitritis 0.866591460192421 1.8181578685221464 0.0690400073679653 1.0 0.9440306634020772 3 P53701 1 |
| Myoclonic seizure 0.4830438430855873 1.817078507452104 0.0692050931720968 1.0 0.9440306634020772 46 O43292,P04062,P00846,P07602,P21912,Q5XKP0,Q8NHS3,P03886,P16278,Q9NZJ7,Q01105,Q9Y619 12 |
| Proximal tubulopathy 0.5702787932557901 1.8147901351115177 0.069556166985027 1.0 0.9440306634020772 24 O96000,Q9Y6M9,O75306,Q86Y39,Q96CU9,O43676,P03886,Q8IUX1,Q9NX14,P00403 10 |
| Generalized hyperkeratosis 0.7450836620624702 1.8107997881652296 0.0701718491335747 1.0 0.9440306634020772 5 O75844 1 |
| Macrovesicular hepatic steatosis 0.7293486505820497 1.8067045574387863 0.0708083567356945 1.0 0.9440306634020772 6 Q5XKP0,O75431,P23786 3 |
| Oligosacchariduria 0.7439494799801106 1.8056192814904104 0.0709778287630165 1.0 0.9440306634020772 5 P16278 1 |
| Progressive gait ataxia 0.7044252796070993 1.8043615222545504 0.0711746509374562 1.0 0.9440306634020772 10 Q9NZJ7,O14773,P07602,P00846 4 |
| Elevated serum acid phosphatase 0.8492453198958713 1.803529659481705 0.071305071764806 1.0 0.9440306634020772 4 Q9NZJ7,P07602 2 |
| Abnormal mitochondria in muscle tissue 0.5925848375603181 1.8025165223295616 0.0714641775819648 1.0 0.9440306634020772 22 O96000,Q9Y6M9,O75306,Q86Y39,Q96CU9,O43676,P03886,Q8IUX1,Q9NX14,P00403 10 |
| Widened cerebral subarachnoid space 0.8466734417668533 1.7931534943025518 0.0729483839362059 1.0 0.9440306634020772 4 P00403,P03886 2 |
| Occipital encephalocele 0.8587188612099659 1.7856104494071687 0.0741623538135458 1.0 0.9440306634020772 3 Q10713,Q6ZXV5 2 |
| Constriction of peripheral visual field 0.5777313664004355 1.782601043440453 0.0746512698640802 1.0 0.9440306634020772 23 Q15555,P00846,O75381,Q9Y5Y5,P40855,Q9H061,P56589 7 |
| Furrowed tongue 0.7372143461077856 1.774803411544434 0.0759303528534971 1.0 0.9440306634020772 5 Q96J42 1 |
| Visual loss 0.4758109529403743 1.768545174974747 0.0769698069667952 1.0 0.9440306634020772 45 P53701,O14773,Q9NZJ7,P51798,P00846,P07602,O75306,P50897,O75503,Q8NHS3,P03886,Q10713,Q9NX14,P00403 14 |
| Congenital hepatic fibrosis 0.8541433405174579 1.7666602549600017 0.0772851433490928 1.0 0.9440306634020772 3 Q96J42 1 |
| Abnormality of the anterior fontanelle 0.4823496349572479 1.765609551240519 0.0774613765150016 1.0 0.9440306634020772 30 P56589,O75718,Q9Y487,O75381,P16435,Q32P28,Q9Y5Y5,Q6NUK1,P40855,Q9Y619 10 |
| Abnormal circulating citrulline concentration 0.7344722579913385 1.7622318268670176 0.0780301367990194 1.0 0.9440306634020772 5 P00846,P03886 2 |
| Bradycardia 0.7141040113489143 1.760674478887416 0.0782935147023069 1.0 0.9440306634020772 7 O75880,O43772,Q9H2U2,P0DP25,Q9BTV4 5 |
| Primary adrenal insufficiency 0.6813010507297391 1.7604263576942194 0.0783355435853785 1.0 0.9440306634020772 12 O75381,P16435,Q9Y5Y5,P40855,Q13423 5 |
| Urinary glycosaminoglycan excretion 0.7193782369137793 1.760316695621633 0.0783541249330161 1.0 0.9440306634020772 6 P16278 1 |
| Elevated pulmonary artery pressure 0.6080119641250507 1.7588129785509017 0.0786092796273907 1.0 0.9445724669665612 20 Q9UMS0,O96000,P04062,Q8IZA0,P51798,P20674,Q14108,Q6NUK1,P03886,O75844,P00403 11 |
| Fluctuations in consciousness 0.7072773588176949 1.7554954252667458 0.079174602479537 1.0 0.9488284361147714 8 Q15526,P04062,O75306,O43819,P03886,P00403 6 |
| Action tremor 0.4844780282741925 1.753749362285479 0.0794734632596296 1.0 0.9498769784275952 51 Q9NR77,O14773,Q9UBB4,P03886,Q9H6K4,P35637,Q96DA6,Q9NZJ7,Q99720,O75027,P00846,O75306,P41440,O43681,P07602,Q9Y287,Q14108,Q5JRX3,Q5T8D3 19 |
| Scotoma 0.6462399179329917 1.7508507778093667 0.0799716173211093 1.0 0.9527015030445396 16 P00846,O75306,Q9H6K4,Q9Y287,Q9H061,Q8NHS3,P03886 7 |
| Extrapyramidal muscular rigidity 0.7159082513782672 1.7441215227727385 0.0811379018087363 1.0 0.9531437327056184 6 Q9H6K4 1 |
| Limb ataxia 0.5835481169570474 1.7439658283424817 0.0811650486252553 1.0 0.9531437327056184 22 Q9NR77,O14773,P04062,P41440,Q14108,P07196,O75298,Q8IV08,Q9UBB4,Q10713 10 |
| Stroke like episode 0.7300261985729691 1.7418171529294997 0.0815404442651577 1.0 0.9531437327056184 5 P03886,P00403,O76024 3 |
| Cardiovascular calcification 0.7040625663891346 1.739986679283877 0.0818613569977884 1.0 0.9531437327056184 8 O75844,P04062 2 |
| Abnormality of alkaline phosphatase level 0.6344801594719081 1.7366505183507974 0.0824488767187727 1.0 0.9531437327056184 17 Q96AY3,P51798,Q96A33,Q14739,Q92643,Q9UJS0,Q8N511 7 |
| Fetal distress 0.5587924570525802 1.736146682896318 0.0825379018189205 1.0 0.9531437327056184 24 O96000,Q9Y6M9,O75306,Q86Y39,Q96CU9,O43676,P03886,Q8IUX1,Q9NVI7,Q9NX14 10 |
| Cns demyelination 0.6836577944538954 1.73504098007484 0.0827335469035819 1.0 0.9531437327056184 11 Q9NZJ7,P51648,P07602 3 |
| Generalized clonic seizure 0.830701033667501 1.7285100041600654 0.08389682900264 1.0 0.9531437327056184 4 P07602 1 |
| Progressive sensorineural hearing impairment 0.6950078437664065 1.7253648075436876 0.0844617493521364 1.0 0.9531437327056184 9 O60313,P03886,P00403,O76024 4 |
| Abnormal circulating ceruloplasmin concentration 0.8298835524479234 1.7251922720822166 0.0844928279191772 1.0 0.9531437327056184 4 Q8N511 1 |
| Aortic valve calcification 0.8435038154610368 1.722502767166498 0.0849784819577366 1.0 0.9531437327056184 3 P04062 1 |
| Mitral stenosis 0.8435038154610368 1.722502767166498 0.0849784819577366 1.0 0.9531437327056184 3 P04062 1 |
| Delusions 0.6307403969142434 1.7151092019011889 0.0863252075454226 1.0 0.9531437327056184 17 Q9BQE5,P04062,P07602,P21964,Q9UJS0,Q9NZJ7,O43681 7 |
| Postural tremor 0.6210788073959245 1.7144133404158082 0.0864528401938042 1.0 0.9531437327056184 18 Q9NR77,O14773,P00846,Q9H6K4,Q14108 5 |
| Profound global developmental delay 0.6723351298456086 1.7139099808209373 0.0865452597296749 1.0 0.9531437327056184 12 O75381,Q9H490,Q9Y5Y5,P40855,P56589 5 |
| Arthritis 0.4537888588052812 1.7137463511665507 0.0865753201939008 1.0 0.9531437327056184 36 P04062,P51798,Q8NBL1,Q96HY6,Q14108,P21964,Q14739,P06280,P14174,O75844,Q13510 11 |
| Abnormal size of the clitoris 0.6388885029569522 1.7094476042309663 0.0873680693706202 1.0 0.9531437327056184 16 P56589,P53701,O75381,P16435,Q9Y5Y5,P40855,Q9NX14,Q9Y619 8 |
| Psychomotor deterioration 0.6976692084895854 1.709073599265042 0.0874373172021834 1.0 0.9531437327056184 8 Q9NZJ7,P07602,P50897 3 |
| Dementia 0.488810504445877 1.702801232384148 0.0886052721618662 1.0 0.9531437327056184 57 O60313,Q9UBB4,P03886,Q9Y487,O60220,P35637,P21912,O96008,Q9NZJ7,Q13510,P17900,Q8N5K1,P05067,P04062,O76024,P00846,O15118,O43681,P49768,P07602,Q9Y287,Q9UQN3,Q14108,P00403 24 |
| Abnormal csf protein level 0.6693701643910781 1.6984808217455285 0.0894170493466093 1.0 0.9531437327056184 12 Q9NR77,P07602,Q99757,P03886,Q9NZJ7,P00403,O43681 7 |
| Abnormality of the clitoris 0.6183070890108359 1.698048321848827 0.0894986420200489 1.0 0.9531437327056184 18 P56589,P53701,O75381,P16435,Q9Y5Y5,P40855,Q9NX14,Q9Y619 8 |
| Osteoarthritis 0.6887391192377164 1.6944881172091033 0.090172567814631 1.0 0.9531437327056184 9 O75844,Q14108,P04062,P51798 4 |
| Peripheral demyelination 0.5970193103006539 1.6908397420925805 0.0908674145289449 1.0 0.9531437327056184 20 Q9NR77,P07602,P00846,P03886,Q9NZJ7,O43681 6 |
| Lipoma 0.7032745637025473 1.6849394147881318 0.0920002610830723 1.0 0.9531437327056184 6 P21912 1 |
| Proportionate short stature 0.4432567367913319 1.6835768450535762 0.0922634767630057 1.0 0.9531437327056184 32 P53701,Q96HY6,P21912,Q15392,Q14739,P10619,P16278,Q9NX14,Q9Y619 9 |
| Central apnea 0.6973956521676661 1.6811874735440524 0.0927265058437167 1.0 0.9531437327056184 7 Q9NZJ7,P07602,O76024 3 |
| Pericardial effusion 0.8172102040784983 1.67364691039289 0.0942000133157519 1.0 0.9531437327056184 4 P04062 1 |
| External ear malformation 0.6411327685332371 1.6735168773127316 0.0942255868846126 1.0 0.9531437327056184 15 Q15555,O75381,Q9Y5Y5,P40855,Q8NCH0 5 |
| Impaired vibration sensation in the lower limbs 0.649243074026824 1.6729825098731663 0.0943307392178618 1.0 0.9531437327056184 14 Q9NR77,P00846,O75298,O00400,O43819 5 |
| Polar cataract 0.8163489779801586 1.6701367028551637 0.0948923199044544 1.0 0.9531437327056184 4 Q9Y287 1 |
| Abnormal atrioventricular conduction 0.6708666561182335 1.6696930042676146 0.0949801185723056 1.0 0.9531437327056184 11 P50402,O43772,P21912,P0DP25,P06280,Q9BTV4 6 |
| Recurrent bronchitis 0.8300567726334029 1.666518484282682 0.0956101897055126 1.0 0.9531437327056184 3 Q9H0U3 1 |
| Basal ganglia calcification 0.6942721939920395 1.666260629028102 0.0956615148087187 1.0 0.9531437327056184 7 P00403,P03886 2 |
| Temperature instability 0.6988432042626866 1.664101179988333 0.0960922113077225 1.0 0.9531437327056184 6 Q9NZJ7,P07602 2 |
| Enlarged ovaries 0.8139093108973157 1.6601880468456185 0.0968766285389124 1.0 0.9531437327056184 4 P16435,P21912 2 |
| Epispadias 0.8127447490210168 1.6554365229787331 0.0978359825623227 1.0 0.9531437327056184 4 P53701,Q9NX14,Q9Y619 3 |
| Microcytic anemia 0.6857963276957426 1.6514218329437884 0.0986524697415043 1.0 0.9531437327056184 8 Q9BQT8,Q9UBX3,Q96DA6 3 |
| Focal t2 hyperintense brainstem lesion 0.6001031041244922 1.6474909326522782 0.0994571784315943 1.0 0.9531437327056184 19 O96000,Q9Y6M9,O75306,Q86Y39,Q96CU9,O43676,P03886,Q8IUX1,Q9NX14 9 |
| Skeletal dysplasia 0.444660478075993 1.6474198347177444 0.0994717812173153 1.0 0.9531437327056184 35 O75381,Q9Y5Y5,Q14739,P40855,P51648,P10619,P16278,Q9HC07,P56589 9 |
| Generalized osteosclerosis 0.8243099941942009 1.642537233938001 0.1004787163319012 1.0 0.9544932951712306 3 Q15392 1 |
| Abnormal full field electroretinogram 0.6834902851388516 1.6401881222509984 0.1009660581911358 1.0 0.9544932951712306 8 P00846,P50897 2 |
| Abnormal light and dark adapted electroretinogram 0.6834902851388516 1.6401881222509984 0.1009660581911358 1.0 0.9544932951712306 8 P00846,P50897 2 |
| Abnormality of skull ossification 0.6573309366876203 1.6355977682082414 0.101923797775367 1.0 0.9544932951712306 12 O75718,Q9HC21,P54802,Q14739,Q6NUK1,O75844 6 |
| Abnormality of the distal phalanges of the toes 0.7069088883700213 1.6350730074646582 0.1020337438685192 1.0 0.9544932951712306 5 O75844,Q7LGA3 2 |
| Cytochrome c oxidase negative muscle fibers 0.6924165933905286 1.6338084412790186 0.1022990793316638 1.0 0.9544932951712306 6 P12235,Q15526,Q9Y2R0 3 |
| Abnormality of the gallbladder 0.44467081399857 1.63135459703166 0.102815519277897 1.0 0.9544932951712306 36 P04062,P07602,Q96A33,Q9UBM7,P21964,P40855,O95202,Q9NZJ7,O43681 9 |
| Abnormal gallbladder morphology 0.4799159991763272 1.6292325955984837 0.1032637891068481 1.0 0.9544932951712306 29 P04062,P07602,Q96A33,P21964,P40855,Q9NZJ7,O43681 7 |
| Chronic fatigue 0.6903270008355018 1.6239407506200594 0.1043884543360906 1.0 0.9544932951712306 6 Q9NZJ7,P07602 2 |
| Prominent nasolabial fold 0.6903004358007574 1.6238152458145227 0.1044152452506443 1.0 0.9544932951712306 6 Q9Y487,Q8NCH0 2 |
| Abnormality of the nasolabial region 0.6903004358007574 1.6238152458145227 0.1044152452506443 1.0 0.9544932951712306 6 Q9Y487,Q8NCH0 2 |
| Multifocal cerebral white matter abnormalities 0.703571606499222 1.619583266941095 0.105321826454753 1.0 0.9544932951712306 5 Q9Y619 1 |
| Impaired tactile sensation 0.7035667247967498 1.619560594662273 0.1053267001138462 1.0 0.9544932951712306 5 Q9NR77 1 |
| Sclerocornea 0.672147228420611 1.612327998384543 0.1068905837597389 1.0 0.9544932951712306 9 P53701,Q6NUK1,O95202,Q96J42,Q9NX14 5 |
| Abnormal csf metabolite level 0.4798574693255769 1.6089177457846602 0.1076343286194514 1.0 0.9544932951712306 58 Q9Y6M9,Q86Y39,Q99757,Q96CU9,O43819,O43676,P03886,Q8NI60,P00846,O75306,Q9P0J0,Q8IUX1,Q9NX14,P13073,Q7KZN9,O96000,Q9HC21,Q9NPL8,P00403 19 |
| Abnormal circulating copper concentration 0.6995880032955538 1.6010684012924987 0.1093617699849891 1.0 0.9544932951712306 5 Q9Y487,O43819 2 |
| Angiokeratoma 0.8137836498955434 1.598531229086708 0.1099248010342512 1.0 0.9544932951712306 3 P16278 1 |
| Clumsiness 0.5820593527694018 1.5976187932269013 0.1101278413629758 1.0 0.9544932951712306 20 Q9NR77,O14773,P07602,O43819,Q9NZJ7,Q13510,O43681 7 |
| Abnormal sella turcica morphology 0.6843847505491378 1.5958318830314633 0.1105263328798353 1.0 0.9544932951712306 6 P16278 1 |
| Osteopetrosis 0.8124555160142374 1.5929719561005855 0.1111664824082374 1.0 0.9544932951712306 3 Q15392,P51798 2 |
| Craniofacial dysostosis 0.6974199444101383 1.5909803822253954 0.1116139908207856 1.0 0.9544932951712306 5 Q6NUK1 1 |
| Brain imaging abnormality 0.4348547479823106 1.5906944237397478 0.1116783624809316 1.0 0.9544932951712306 33 Q05086,Q15526,Q9NZJ7,P49768,Q9BV10,P11166,Q96CW1,P07602,O75306,P21912,Q9UQN3,Q969X5,O43819,P03886,O00429,Q9BT22,P00403 17 |
| Distal peripheral sensory neuropathy 0.6970549722787415 1.589281379552533 0.1119968806964326 1.0 0.9544932951712306 5 P03886 1 |
| Exercise intolerance 0.4328871006917152 1.589090719895035 0.1120399126282285 1.0 0.9544932951712306 32 Q15526,Q8NI60,P13473,Q53H12,Q9Y2R0,P23786,Q8IUX1,P03886,P00403,Q9H2D1 10 |
| Mitochondrial respiratory chain defects 0.6813125893220504 1.5812721786332211 0.1138158180412891 1.0 0.9544932951712306 6 P00846,P03886 2 |
| Airway obstruction 0.6534793735823321 1.5802202668591356 0.1140564320271468 1.0 0.9544932951712306 11 Q96HY6,P16435,P09601,P21964,O75844 5 |
| Abnormality of chorioretinal pigmentation 0.8092199924282999 1.5794226060937182 0.1142391555492992 1.0 0.9544932951712306 3 Q5XKP0 1 |
| Episodic respiratory distress 0.8090917820610692 1.5788855245838684 0.1143623168340659 1.0 0.9544932951712306 3 P00846 1 |
| Wide anterior fontanel 0.5787392270965066 1.576820943746474 0.1148367311376454 1.0 0.9544932951712306 20 O75718,Q9Y487,O75381,P16435,Q32P28,Q9Y5Y5,Q6NUK1,P40855,P56589 9 |
| Rod cone dystrophy 0.4490760957822459 1.5757585442858255 0.115081459607512 1.0 0.9544932951712306 42 Q15555,P00846,O75381,Q9Y5Y5,P38435,P40855,P03886,Q5T8D3 8 |
| Abnormality of corneal stroma 0.6586150984442445 1.5742929511017392 0.1154197386316859 1.0 0.9544932951712306 10 P16278,Q13510,P04062,P10619 4 |
| Foam cells 0.7913702975033512 1.5679424065851135 0.1168945738901015 1.0 0.9544932951712306 4 P16278,Q13510 2 |
| Abnormal macrophage morphology 0.7913702975033512 1.5679424065851135 0.1168945738901015 1.0 0.9544932951712306 4 P16278,Q13510 2 |
| Abnormality of the alveolar ridges 0.6781747219404091 1.5663821476494018 0.1172591797975037 1.0 0.9544932951712306 6 Q15392,O43924 2 |
| Impaired social interactions 0.4530685399774747 1.5650177152198137 0.1175787555813869 1.0 0.9544932951712306 45 O96000,Q9UHX1,Q9Y6M9,O75306,Q86Y39,Q9P0J0,Q9NPL8,Q96CU9,Q5XKP0,O43676,P03886,Q8IUX1,Q9NX14,Q15907 14 |
| Perimembranous ventricular septal defect 0.6728835562127049 1.5634960567308525 0.1179359624630735 1.0 0.9544932951712306 7 Q9UHX1,P0DP25 2 |
| Barrel shaped chest 0.8051601908188215 1.562409467185751 0.1181915582559791 1.0 0.9544932951712306 3 Q14739 1 |
| Ectopic calcification 0.4645016135006058 1.5609623412596287 0.1185326365627967 1.0 0.9544932951712306 52 P04062,O75381,Q9UBM7,O75431,P23786,Q9Y5Y5,Q14739,P38435,P40855,P10644,P03886,O75844,P00403,P56589 14 |
| Bilateral tonic clonic seizure with generalized onset 0.6670817922522404 1.5599269218249294 0.1187771516129714 1.0 0.9544932951712306 8 Q05086,P04062,Q96CW1,Q9Y320,Q13510 5 |
| Left ventricular hypertrophy 0.5758954010837063 1.5589759889330004 0.1190020632891288 1.0 0.9544932951712306 20 O75880,P10253,P21912,O75431,P12235,Q6NUK1,P03886,P00403 8 |
| Status epilepticus 0.4471623384700426 1.5584169602312938 0.1191344387297639 1.0 0.9544932951712306 42 Q9Y487,P53701,O43292,P07602,Q9H2C2,P42892,Q15392,P05023,Q9NZJ7,Q01105,Q13510 11 |
| Underdeveloped supraorbital ridges 0.6355636362175887 1.557976016980615 0.1192389334654859 1.0 0.9544932951712306 13 O75381,P16435,Q9Y5Y5,Q6NUK1,P40855,P56589 6 |
| Varicose veins 0.7876572892650837 1.5526913857109177 0.1204968812932216 1.0 0.9544932951712306 4 P04062 1 |
| Protrusio acetabuli 0.8026862009591182 1.5520356022032762 0.1206537051398699 1.0 0.9544932951712306 3 O75718 1 |
| Mucosal telangiectasiae 0.6600156066435144 1.5518676230155446 0.1206939013145647 1.0 0.9544932951712306 9 Q14739,P06280,P21912,P10619 4 |
| Increased serum pyruvate 0.4303741093480006 1.5496643357110935 0.12122210243629 1.0 0.9544932951712306 33 O96000,Q9Y6M9,O75306,Q86Y39,P21912,Q9NPL8,P22695,Q96CU9,Q70HW3,Q5JRX3,Q9Y375,O43676,P03886,Q8IUX1,Q9NX14 15 |
| Abnormal muscle fiber morphology 0.4761156881023887 1.5464349839043483 0.1219995506973614 1.0 0.9544932951712306 60 O60313,Q70HW3,Q06210,P03886,O43676,Q9BTV4,Q15526,Q8NI60,P03928,P35637,P53007,O96008,P07196,Q9H2D1,Q99720,P05067,P00846,P50402,P12235,P49768,P23786,Q9Y4W6,O00483,Q9BPX6,P00403 25 |
| Paroxysmal involuntary eye movements 0.5637654399849862 1.5458307981188797 0.1221454369100423 1.0 0.9544932951712306 21 O96000,Q9Y6M9,O75306,Q86Y39,Q96CU9,O43676,P03886,Q8IUX1,Q9NX14 9 |
| Abnormal speech prosody 0.6689272421486702 1.5443858662390912 0.1224948819676166 1.0 0.9544932951712306 7 P04062,P00846 2 |
| 3 methylglutaconic aciduria 0.6523489532696655 1.5424430549495505 0.1229659658100359 1.0 0.9544932951712306 10 Q9H6K4,Q96DA6,Q3ZCQ8,Q5XKP0,Q9NVI7 5 |
| Skin plaque 0.6867243409280628 1.5410995385113238 0.1232925621743554 1.0 0.9544932951712306 5 Q06136 1 |
| Absent brainstem auditory responses 0.784341247947449 1.539058637685243 0.1237899816360368 1.0 0.9544932951712306 4 O60313,O60220 2 |
| Arteriosclerosis 0.6379047919633184 1.5333700371378611 0.1251847069721219 1.0 0.9544932951712306 12 P16278,O75844,P38435,Q13510 4 |
| Mixed demyelinating and axonal polyneuropathy 0.7982206405694038 1.533299263866864 0.125202135919626 1.0 0.9544932951712306 3 P00403,P03886 2 |
| Undetectable light and dark adapted electroretinogram 0.684808282353569 1.5321441992614653 0.1254868548048797 1.0 0.9544932951712306 5 P00846 1 |
| Pathologic fracture 0.6439497430557551 1.530880709668286 0.1257988775942693 1.0 0.9544932951712306 11 Q13126,O15269,P04062,Q14108 4 |
| Disproportionate short limb short stature 0.6073219796704019 1.52981230238297 0.1260631955607873 1.0 0.9544932951712306 16 O75718,Q9BV10,Q32P28,Q9UBM7,Q15392,Q14739,P10644,Q7LGA3,O00116 9 |
| Abnormal left ventricle morphology 0.5401240354018161 1.529376144597888 0.1261712228079641 1.0 0.9544932951712306 23 O75880,P10253,P21912,O75431,P12235,Q6NUK1,P03886,P00403 8 |
| Cardiac valve calcification 0.7810301460691641 1.5254349645756615 0.1271506433385338 1.0 0.9544932951712306 4 O75844,P04062 2 |
| Mitral valve calcification 0.7810301460691641 1.5254349645756615 0.1271506433385338 1.0 0.9544932951712306 4 O75844,P04062 2 |
| Cystic renal dysplasia 0.7963380793194452 1.52539627811999 0.1271602865268741 1.0 0.9544932951712306 3 Q9BX67 1 |
| Acetabular dysplasia 0.6600270469773726 1.5252477228484302 0.1271973214795649 1.0 0.9544932951712306 8 P16278,Q9Y584,Q969X5,Q96L58 4 |
| Cardiorespiratory arrest 0.7960854092526768 1.5243353846417975 0.1274249522330894 1.0 0.9544932951712306 3 O43772,P13473 2 |
| Delayed epiphyseal ossification 0.7960854092526717 1.524335384641775 0.127424952233095 1.0 0.9544932951712306 3 Q96HY6,Q9UG56 2 |
| Gastric ulcer 0.7943060498220743 1.5168631170004183 0.1293012474042072 1.0 0.9597995593275142 3 P04062,O76024 2 |
| Deposits immunoreactive to beta amyloid protein 0.7939501779359486 1.5153684109451049 0.129679132477821 1.0 0.9597995593275142 3 P49768,O96008 2 |
| Finger agnosia 0.7939501779359486 1.5153684109451049 0.129679132477821 1.0 0.9597995593275142 3 P49768,O96008 2 |
| Frequent falls 0.4264990364471253 1.5140556221949937 0.1300117327762717 1.0 0.9597995593275142 33 Q9NR77,P04062,P07602,P00846,P21912,O43819,Q9NZJ7,Q13510 8 |
| Abnormal brainstem mri signal intensity 0.5478320483382241 1.509280234288027 0.1312271836695455 1.0 0.9620472486312196 22 O96000,Q9Y6M9,O75306,Q86Y39,Q96CU9,O43676,P03886,Q8IUX1,Q9NX14 9 |
| Vascular tortuosity 0.7761629699463681 1.5053890151118077 0.1322240915958046 1.0 0.9653955195348728 4 P00846 1 |
| Endocarditis 0.6787005903359202 1.503559939527478 0.132694712582096 1.0 0.9653955195348728 5 P04062,P10644 2 |
| Abnormality of pulmonary circulation 0.5363282015581703 1.5034881072613795 0.1327132214537654 1.0 0.9653955195348728 23 Q9UMS0,P51970,O96000,P04062,Q8IZA0,P51798,P20674,Q14108,Q6NUK1,P03886,O75844,P00403 12 |
| Generalized joint laxity 0.6498831445089935 1.5011324141989846 0.1333213164632769 1.0 0.9653955195348728 9 Q8NCH0,Q9UHX1 2 |
| Positive romberg sign 0.6598913849951179 1.5006267868391068 0.1334521189993958 1.0 0.9653955195348728 7 P41440,Q9H6K4,Q8IV08,P07196 4 |
| Congenital hypothyroidism 0.7902608794718706 1.4998680994462872 0.133648572802981 1.0 0.9653955195348728 3 Q13423 1 |
| Retinal dystrophy 0.4642689356833352 1.499160154437376 0.1338320891567035 1.0 0.9653955195348728 56 P53701,Q9H2C2,Q15555,P00846,O75381,Q9Y287,Q9Y5Y5,P38435,P40855,Q5T8D3,Q8NHS3,P03886,Q10713,Q9NX14,P56589 15 |
| Abnormal circulating lipid concentration 0.4865897516635722 1.4970995644789489 0.1343673530790097 1.0 0.9659670759589376 70 O75381,P57740,O43772,Q14739,Q9BTV4,Q15904,Q9Y5Y5,Q15800,Q9NZJ7,Q4G0N4,P56589,O75880,Q9BV10,P50402,O75431,P06280,P40855,O75844,Q9NVI7,Q8N511,P07602,Q9UBM7,P23786,Q15392,Q9Y4P3,Q9UJS0,O95470 27 |
| Adrenal hyperplasia 0.7890223949546521 1.4946627963740071 0.1350024684022033 1.0 0.9659670759589376 3 P16435 1 |
| Abnormality of glycolipid metabolism 0.6584552816091865 1.4936578416446706 0.1352650728616993 1.0 0.9659670759589376 7 P17900,Q9NZJ7,P07602,O43681 4 |
| Ragged red muscle fibers 0.6007581863094501 1.4921006665597634 0.1356727571833595 1.0 0.9659670759589376 16 P03928,P00846,P12235,O75340,Q70HW3,Q9H2D1,Q06210,P03886,P00403 9 |
| Subcutaneous hemorrhage 0.4221823078830996 1.4906700066097096 0.136048154419242 1.0 0.9659670759589376 32 Q13126,P04062,P51798,Q14108,P21964,Q6UN15,P38435,P10644,Q8NCH0 9 |
| Recurrent paroxysmal headache 0.6477172203949837 1.490260168071996 0.1361558414158046 1.0 0.9659670759589376 9 P21912,P00403,P10644,P03886 4 |
| Molar tooth sign on mri 0.7721436185859634 1.4888178305398152 0.1365353457055582 1.0 0.9659670759589376 4 O43924 1 |
| Orthostatic hypotension due to autonomic dysfunction 0.65258148834924 1.4885407422550625 0.1366083458788713 1.0 0.9659670759589376 8 Q9NZJ7,P04062,P07602 3 |
| Pneumothorax 0.6613366539470421 1.4861652929575109 0.137235405301684 1.0 0.9666707075638994 6 Q6NUK1,Q8NCH0,Q96L58 3 |
| Dysesthesia 0.6742405784998778 1.4826514864612987 0.1381670302646607 1.0 0.9701916156396644 5 Q9NR77 1 |
| Abnormal heart rate variability 0.7858062491386099 1.481141212919738 0.1385689475992664 1.0 0.9714958666319864 3 P07602 1 |
| Hyperactive patellar reflex 0.6557053098422383 1.480302549597945 0.1387925231470423 1.0 0.9715476620292968 7 P13073 1 |
| Chronic pulmonary obstruction 0.6731052893677539 1.4773246403861402 0.1395886360295795 1.0 0.9756008247541684 5 P09601,P21964 2 |
| Nasogastric tube feeding in infancy 0.6493236511203423 1.472446061590428 0.14090046242428 1.0 0.9786811099454626 8 P07602,Q9UHX1 2 |
| Hydrocele testis 0.766750473327371 1.466559510397747 0.1424959213019561 1.0 0.9860874279284562 4 Q9UBX3 1 |
| Poor head control 0.4702559759300515 1.4651066210992203 0.1428918305179844 1.0 0.9860874279284562 62 P17900,O96000,Q9NZJ7,P07602,Q9H2C2,Q9Y6M9,O75306,Q86Y39,P21912,Q9P0J0,Q96CU9,Q5XKP0,O43676,P03886,Q8IUX1,Q10713,Q9NX14,P13073 18 |
| Neuronal loss in central nervous system 0.6248274437733818 1.464052359126061 0.143179642782584 1.0 0.9860874279284562 12 O95292,P49768,P04062,P07602,P35637,O43819,Q9NZJ7,O15118 8 |
| Ascites 0.5605272323561001 1.4620647289323945 0.1437234729653573 1.0 0.9860874279284562 20 P04062,Q14108,Q14739,Q13510,O15118 5 |
| Mild short stature 0.7651489458103045 1.4599448425645465 0.1443052336299672 1.0 0.9860874279284562 4 Q14739,P10644 2 |
| Bone pain 0.5783917930211193 1.459614502052066 0.1443960513376494 1.0 0.9860874279284562 18 P04062,P07602,P51798,Q14108,Q6UN15,Q9NZJ7 6 |
| Corneal dystrophy 0.763989013637467 1.4551526971093105 0.1456269930316747 1.0 0.9870543213071608 4 Q53H12,P12235 2 |
| Recurrent pancreatitis 0.7789348235527122 1.4522328086315144 0.1464368830308353 1.0 0.9870543213071608 3 P03886 1 |
| Scrotal hypoplasia 0.5935208641516139 1.4503852553885102 0.1469511164693335 1.0 0.9870543213071608 16 P46977,Q9BV10,Q15555,P16435,Q6NUK1 5 |
| Stuttering 0.7766452252333789 1.4425951432861852 0.149134552313326 1.0 0.9901506787941527 3 P03886 1 |
| Lacticaciduria 0.65210235065187 1.4419582350928628 0.1493141560862816 1.0 0.9901506787941527 6 O96000,P00846,P03886 3 |
| Patchy changes of bone mineral density 0.7760469974393114 1.4400766130264495 0.1498457249121589 1.0 0.9901506787941527 3 Q14739 1 |
| Ambiguous genitalia 0.5909839360268904 1.4357303034557511 0.1510790988098982 1.0 0.9901506787941527 16 P53701,P16435,Q15392,Q8TAA9,Q96J42,Q9NX14 6 |
| Pulmonary infiltrates 0.6506133696224354 1.4348166345662898 0.151339356422782 1.0 0.9901506787941527 6 P04062 1 |
| Sensory ataxia 0.7590480891799773 1.4347272937007642 0.1513648233937656 1.0 0.9901506787941527 4 Q9NR77 1 |
| Elevated circulating long chain fatty acid concentration 0.7743069351807653 1.4327500876848267 0.1519292698496421 1.0 0.9923984574190288 3 P40855 1 |
| Abnormal vascular physiology 0.4393504598708173 1.4249371397949946 0.1541753726004173 1.0 1.0 46 Q9UMS0,P51970,O96000,P04062,Q8IZA0,P05067,P20674,Q9NWM8,P51798,Q14108,Q14739,Q6NUK1,P06280,Q9Y4P3,P03886,O75844,P00403 17 |
| Progressive spastic quadriplegia 0.6427583477423172 1.4172453162926284 0.156411216863826 1.0 1.0 7 P17900,Q9NZJ7,P07602,O43681 4 |
| Axonal degeneration 0.6466925610760662 1.4159939994357544 0.1567772613404272 1.0 1.0 6 Q9BQT8,Q8TB36,Q99757 3 |
| Aplasia hypoplasia of the tongue 0.659960969598148 1.4155210116645531 0.1569157922582258 1.0 1.0 5 Q9UBM7,Q96J42 2 |
| Laryngomalacia 0.6216896498001623 1.414857031100462 0.1571104186070988 1.0 1.0 11 Q9NZJ7,P07602,P21964 3 |
| Radioulnar dislocation 0.7693950177935908 1.4120618638119211 0.1579317464933671 1.0 1.0 3 P16435,Q96L58 2 |
| Abnormality of the radioulnar joints 0.7693950177935908 1.4120618638119211 0.1579317464933671 1.0 1.0 3 P16435,Q96L58 2 |
| Abnormal metabolic brain imaging by mrs 0.5781143783206285 1.40741460650938 0.1593044824653262 1.0 1.0 17 P07602,O75306,P21912,O43819,P03886,Q9NZJ7,P00403 7 |
| Abnormal placenta morphology 0.640222816005603 1.404862847331554 0.1600620662414198 1.0 1.0 7 P16278,O75844 2 |
| Temporal cortical atrophy 0.6567012772928716 1.4001592812520165 0.1614656262291016 1.0 1.0 5 P49768,O43924 2 |
| Upper airway obstruction 0.7506742338018568 1.400067141270124 0.1614932136280467 1.0 1.0 4 O75844,P16435 2 |
| Turricephaly 0.6387533616892044 1.3976818656324408 0.1622086222681007 1.0 1.0 7 Q6NUK1,P16435,P21964 3 |
| Abnormal lung lobation 0.6236514007681215 1.395531491492423 0.1628556252140813 1.0 1.0 10 Q14739,Q9UHX1,P21964 3 |
| Tritanomaly 0.7649860011538641 1.393484487402045 0.1634733327668422 1.0 1.0 3 Q9H6K4 1 |
| Anomalous trichromacy 0.7649860011538641 1.393484487402045 0.1634733327668422 1.0 1.0 3 Q9H6K4 1 |
| Cold induced muscle cramps 0.7614324410046754 1.3785074062789933 0.1680466827773437 1.0 1.0 3 Q9NR77 1 |
| Emg impaired neuromuscular transmission 0.7454610181559289 1.378464077739576 0.1680600513777475 1.0 1.0 4 O60313,P53007,Q06210 3 |
| Depletion of mitochondrial dna in muscle tissue 0.7613580482228892 1.3781938307766215 0.1681434514783446 1.0 1.0 3 Q9UBX3 1 |
| Diffuse white matter abnormalities 0.6297056850730165 1.3751247064769423 0.1690927859502853 1.0 1.0 8 P16278,O75306,Q15526,O43819 4 |
| Abnormal circulating non proteinogenic amino acid concentration 0.6330129853051418 1.3695968633308129 0.1708127792954565 1.0 1.0 7 Q9Y619,Q9UJS0,P00846,P03886 4 |
| Scanning speech 0.7562979381165542 1.3568620288125317 0.1748250538476776 1.0 1.0 3 O14773 1 |
| Duplication involving bones of the feet 0.5917924061481088 1.3567364425182664 0.1748649687478043 1.0 1.0 14 P21964,Q14739,O43924,O95202,Q10713,Q96J42 6 |
| Choreoathetosis 0.42099136167962 1.355181970767448 0.1753595874185536 1.0 1.0 31 Q9H6K4,Q9P0J0,P00846 3 |
| Neurofibrillary tangles 0.6337700112247799 1.353788200699955 0.1758039591408211 1.0 1.0 6 O15118,Q9Y287,P49768,O96008 4 |
| Aplasia hypoplasia of the nasal bone 0.7551767431334511 1.3521348034181768 0.1763321954494077 1.0 1.0 3 Q6NUK1 1 |
| Congenital ichthyosiform erythroderma 0.6310205609095414 1.3405216605092831 0.1800758070933079 1.0 1.0 6 P04062 1 |
| Abducens palsy 0.7516243338058954 1.3371559168705238 0.1811717480344454 1.0 1.0 3 P07602 1 |
| Delayed cranial suture closure 0.444473166830747 1.3368739790908677 0.1812637758221287 1.0 1.0 29 O75718,Q9Y487,O75381,P16435,Q32P28,O75431,P40855,O75844,Q8NCH0 9 |
| Gingival fibromatosis 0.7515555266938805 1.336865775630076 0.1812664540470328 1.0 1.0 3 Q15392 1 |
| Insidious onset 0.7343601704715642 1.3324079074262818 0.1827261851101687 1.0 1.0 4 Q9NR77,P04062 2 |
| Hypointensity of cerebral white matter on mri 0.6290927507960973 1.3312134887694635 0.1831187742785105 1.0 1.0 6 P07602 1 |
| Negativism 0.9608680184987564 1.3312127017802746 0.1831190331570535 1.0 1.0 2 Q9BQE5 1 |
| Social and occupational deterioration 0.9608680184987564 1.3312127017802746 0.1831190331570535 1.0 1.0 2 Q9BQE5 1 |
| Abnormalities of placenta or umbilical cord 0.5936727539446275 1.3306604060580618 0.1833007766354242 1.0 1.0 13 P16278,P16435,O75844,Q9Y244 4 |
| Corpus callosum atrophy 0.5727724410556195 1.330067316696827 0.1834960928264757 1.0 1.0 16 P51970,O60313,P51572,Q9Y5Y5,O75503,P51659,Q8N766 7 |
| Metaphyseal striations 0.7498618409197835 1.329723840277054 0.1836092769595381 1.0 1.0 3 Q9UG56 1 |
| Fair hair 0.7333639111480103 1.328271295402221 0.1840884988994435 1.0 1.0 4 O00203,P10644 2 |
| Genu valgum 0.4173692370344866 1.3226262398167663 0.1859597036571019 1.0 1.0 31 Q9NR77,P51798,O75431,P16278,Q7LGA3,Q9Y619 6 |
| High frequency sensorineural hearing impairment 0.7313970814378017 1.3201033470619008 0.1868005154348724 1.0 1.0 4 O75844,Q13510 2 |
| Rhizomelia 0.609010373461567 1.319985335746508 0.1868399140485239 1.0 1.0 10 O75718,Q9BV10,Q9UBM7,Q15392,Q14739 5 |
| Severe lactic acidosis 0.7313060646093243 1.3197253245238592 0.1869267416358337 1.0 1.0 4 Q70HW3 1 |
| Redundant skin 0.454258995552003 1.3173775334272064 0.1877121078216703 1.0 1.0 28 Q9Y487,O96000,Q9BV10,Q6NUK1,P38435,Q9NX14,Q8NCH0 7 |
| Cutis laxa 0.4052881405278567 1.3172058913789728 0.1877696196774394 1.0 1.0 33 Q15904,Q9Y487,O96000,Q9BV10,Q6NUK1,P48651,P38435,Q9Y4P3,Q9NX14,Q8NCH0 10 |
| Congenital nonbullous ichthyosiform erythroderma 0.6389779937656737 1.3164241034243938 0.1880317367755599 1.0 1.0 5 P04062 1 |
| Abnormal circulating fatty acid concentration 0.537227715516019 1.3137166023857756 0.1889415917481993 1.0 1.0 20 O75880,O75381,O43772,O75431,Q9Y5Y5,P40855,P56589 7 |
| Meningocele 0.625328442033592 1.3130238291325105 0.1891749187124221 1.0 1.0 6 Q8TAA9,P21964 2 |
| Increased susceptibility to fractures 0.4185968473077174 1.312321920668896 0.1894115389838102 1.0 1.0 41 Q13126,O75718,O15269,P04062,O60220,P51798,Q96AY3,Q9NVV0,P16435,Q32P28,Q14108,Q14739,P10644,P07237 14 |
| Abnormality of hepatobiliary system physiology 0.4687878905928351 1.3104387768710009 0.1900474428742453 1.0 1.0 72 O75381,O43772,P22695,O43819,P03886,Q10713,Q9Y619,Q15526,P08574,Q9Y5Y5,Q9BT22,Q13510,P56589,P04062,P00846,Q96A33,O75306,Q5XKP0,P40855,Q8N511,O15118,P23786 22 |
| Abnormal saccadic eye movements 0.5273024524728187 1.308435779606249 0.1907255435349835 1.0 1.0 21 Q15526,O14773,P04062,P51798,O75306,O43819,Q10713 7 |
| Retinal pigment epithelial mottling 0.9544646033440064 1.306537759851225 0.1913697468061779 1.0 1.0 2 P00846 1 |
| Neurogenic bladder 0.6233503945344231 1.3034583405656854 0.1924183300958248 1.0 1.0 6 Q8TAA9,P56589,O76024 3 |
| Ichthyosis 0.4035388401147169 1.3008333286639973 0.1933155111346982 1.0 1.0 33 P04062,O75381,Q9Y5Y5,P40855,P51648,Q15800,O95470,P56589,Q9Y244 9 |
| Leukodystrophy 0.447074577547119 1.2996196250266574 0.1937313700534841 1.0 1.0 59 Q7KZN9,O96000,P07602,Q9Y6M9,O75306,Q86Y39,P21912,Q9P0J0,Q9Y5Y5,Q96CU9,O43819,O43676,P03886,Q8IUX1,Q9NZJ7,Q9NX14,O43681 17 |
| Limb pain 0.614545438330822 1.299490280593952 0.1937757268514655 1.0 1.0 8 O15269,P00846,O95140,P36551,Q8WVX9,P08397 6 |
| Decreased ldl cholesterol concentration 0.7258810964756345 1.2971872631413222 0.1945667620722051 1.0 1.0 4 Q9Y6B6,P37268,Q15800 3 |
| Abnormal response to endocrine stimulation test 0.7407065115272992 1.29111686173722 0.1966631579784592 1.0 1.0 3 Q13423 1 |
| Increased intramyocellular lipid droplets 0.612776097007104 1.2906416548754471 0.1968279648366038 1.0 1.0 8 O00483,Q15526,Q8NI60 3 |
| Progressive hearing impairment 0.5980475732927313 1.2905801353382498 0.1968493078663022 1.0 1.0 11 O60313,P03886,P00403,O76024 4 |
| Premature rupture of membranes 0.6206457762846983 1.290371458008554 0.1969217171080408 1.0 1.0 6 O75844 1 |
| Palmar pits 0.7403724637836211 1.289708296896326 0.197151957784766 1.0 1.0 3 P16615 1 |
| Short palpebral fissure 0.5237161393931428 1.2848633809678378 0.1988400293089938 1.0 1.0 21 Q6NUK1,O75844,Q9UHX1,Q9Y619 4 |
| Polydactyly 0.401719753158081 1.2837868077580177 0.1992165607402365 1.0 1.0 33 Q9UHX1,P21964,Q14739,O43924,O95202,Q10713,Q96J42 7 |
| Low plasma citrulline 0.9466382070437576 1.276414982671082 0.2018088626658727 1.0 1.0 2 P00846 1 |
| Retinal arterial tortuosity 0.9466382070437576 1.276414982671082 0.2018088626658727 1.0 1.0 2 P00846 1 |
| Leber optic atrophy 0.9466382070437576 1.276414982671082 0.2018088626658727 1.0 1.0 2 P00846 1 |
| Multiple glomerular cysts 0.9466382070437576 1.276414982671082 0.2018088626658727 1.0 1.0 2 P00846 1 |
| Diaphyseal thickening 0.7370785670027451 1.2758198014158888 0.2020192261365267 1.0 1.0 3 Q14739 1 |
| Protruding tongue 0.6095487887688259 1.2744910681760375 0.2024894360963913 1.0 1.0 8 Q05086,O60826,Q6NUK1,P20700,Q10713 5 |
| Episodic ataxia 0.7194387205624329 1.2704082142831117 0.203939258777555 1.0 1.0 4 Q9H936 1 |
| Peripheral axonal neuropathy 0.4224634455566143 1.2698748855656214 0.204129200412604 1.0 1.0 46 O60313,P03886,Q15067,Q8IV08,Q9NZJ7,P07196,O15269,P00846,O76024,Q9NRG9,P12235,Q13057,Q9NVI7,P07602,Q9HC21,Q9Y4W6,Q96BR5,Q9BPX6,P00403 19 |
| Abnormal proportion of cd4 positive t cells 0.6288524462581329 1.2684487158379223 0.2046377539416424 1.0 1.0 5 Q9H0U3,Q13432 2 |
| Recurrent fever 0.5880635798851341 1.2673047449376091 0.2050463445566968 1.0 1.0 12 Q9NR77,P51572 2 |
| Saccadic smooth pursuit 0.6284222687698958 1.2664087050673498 0.2053667959470817 1.0 1.0 5 O14773 1 |
| Male pseudohermaphroditism 0.7181346099382325 1.2649858710441255 0.2058763927539555 1.0 1.0 4 P53701,Q96J42 2 |
| Abnormal lower motor neuron morphology 0.6031537970734393 1.2647020681791423 0.2059781483046781 1.0 1.0 9 Q99720,P49768,Q13510,P35637 4 |
| Aplastic clavicle 0.7340850753159402 1.2631994872121974 0.2065174970974186 1.0 1.0 3 Q9Y619 1 |
| Progressive spastic paraplegia 0.4473673779325385 1.2616122022970782 0.2070883632002786 1.0 1.0 28 Q7KZN9,Q15526,P00846,O75306,Q9P0J0,O00400,Q96CU9,O75298 8 |
| Retinal vascular tortuosity 0.5742743968060352 1.258823511074689 0.2080940862191718 1.0 1.0 14 P03886,O75306,P00846,P21964 4 |
| Zonular cataract 0.596984440972889 1.2576795668188387 0.2085076648497059 1.0 1.0 10 Q9H6K4,Q99797 2 |
| Limited wrist movement 0.7162896371340066 1.2573139409752216 0.208639977823912 1.0 1.0 4 Q9H6K4 1 |
| Abnormality of the larynx 0.4086893985569054 1.2520135123477734 0.2105649403034191 1.0 1.0 39 Q15165,P07602,Q9UHX1,Q96HY6,P16435,P21964,Q14739,Q9NZJ7,Q13510 9 |
| Distal sensory impairment of all modalities 0.7127724396638585 1.242686336521753 0.2139834408429179 1.0 1.0 4 O95140,O15269 2 |
| Abnormal fallopian tube morphology 0.6106352047004739 1.2418600717597217 0.214288194132679 1.0 1.0 6 P53701 1 |
| Ureteral duplication 0.606748527726516 1.240505391986829 0.2147885210788911 1.0 1.0 7 O75844,Q96J42,Q8TAA9 3 |
| Hypoketotic hypoglycemia 0.6066901283801062 1.2402174158871122 0.2148949883828173 1.0 1.0 7 O43772,P23786,Q16836 3 |
| Renal tubular dysfunction 0.4054041370847254 1.2373244104039918 0.2159666689795458 1.0 1.0 38 O96000,Q15526,Q9Y6M9,O75306,Q86Y39,Q9NPL8,Q96CU9,P40855,O43819,O43676,P03886,Q8IUX1,Q9NX14,P00403 14 |
| Cutaneous cyst 0.7113093511376425 1.236600856121168 0.2162353019302274 1.0 1.0 4 Q8TAA9 1 |
| Abnormal atrioventricular valve morphology 0.3966132796266695 1.2358246632424588 0.2165237452817185 1.0 1.0 33 P53701,P04062,O75431,P21964,O75844,Q9NX14 6 |
| Nonimmune hydrops fetalis 0.4665031582285704 1.2348279503739068 0.2168945426958946 1.0 1.0 26 Q14739,P04062,P10619,Q9BT22 4 |
| Hyperesthesia 0.9345428673070094 1.229954574725394 0.2187141157671726 1.0 1.0 2 P07602 1 |
| Generalized lipodystrophy 0.7084318011638627 1.22463127435195 0.2207141789385214 1.0 1.0 4 O75844 1 |
| Micropenis 0.4225185518716478 1.224283591169245 0.2208452647709649 1.0 1.0 49 O95470,P53701,P46977,Q9BV10,P42892,P16435,Q9UBM7,Q6NUK1,Q10713,Q9NVI7,Q9NX14,Q9Y619 12 |
| Decreased cd4 cd8 ratio 0.7082890452969102 1.2240374359958663 0.2209381055794992 1.0 1.0 4 Q9H0U3,Q13432 2 |
| Abnormality of subcutaneous fat tissue 0.5739643292209569 1.2225125551848572 0.2215138589353267 1.0 1.0 13 Q6NUK1,O75844,Q9Y487 3 |
| Flared metaphysis 0.6065194505615512 1.2218847896060996 0.2217511982139024 1.0 1.0 6 Q96HY6,P48651,Q14739 3 |
| Concentric hypertrophic cardiomyopathy 0.7239181577400953 1.2203545491890715 0.2223304992166896 1.0 1.0 3 P03886 1 |
| Abnormal endocrine physiology 0.6185774116856015 1.2196886122203794 0.2225829401647123 1.0 1.0 5 Q13423 1 |
| Abnormal brain lactate level by mrs 0.584577355979665 1.219373623494229 0.2227024163928477 1.0 1.0 11 O75306,P21912,O43819,P03886,P00403 5 |
| Hypoparathyroidism 0.5829802436031939 1.210914991254013 0.2259279864968113 1.0 1.0 11 P03886,P21964 2 |
| Mental deterioration 0.4930813319258919 1.2103269983805458 0.2261534417905568 1.0 1.0 96 Q9BQE5,O60313,O43819,Q9UBB4,P03886,P16278,Q10713,Q9Y487,Q15526,O60220,P35637,P21912,Q8NHS3,O96008,Q9NZJ7,Q13510,P17900,P04062,P05067,Q8N5K1,P00846,O76024,O75306,P50897,Q5XKP0,O15118,O43681,P49768,P07602,Q9H2C2,Q9Y287,P54802,Q14108,Q9NPL8,P21964,O75503,P10644,O95470,P00403 39 |
| Emg neuropathic changes 0.4838542469637729 1.2089699761488248 0.2266743802914232 1.0 1.0 24 O95292,Q9NR77,O14773,P07602,O60313,Q16637,Q969X5,O43819,Q9NZJ7,Q13510,O43681 11 |
| Diaphragmatic weakness 0.7210192215064157 1.2081450829019909 0.2269914612051047 1.0 1.0 3 Q9NR77 1 |
| Echolalia 0.5871844133316632 1.206762882643141 0.2275234742568963 1.0 1.0 10 P53701,P49768,Q9UHX1,Q9UJS0,Q9NX14 5 |
| Hand polydactyly 0.4831943735384736 1.204235208973096 0.2284986809622382 1.0 1.0 24 Q9UHX1,P21964,Q14739,O43924,O95202,Q10713,Q96J42 7 |
| Mania 0.5814642787288544 1.2028833171528182 0.2290214770353582 1.0 1.0 11 P12235,P21964,P16615,P03886,P00403 5 |
| Supernumerary tooth 0.5979127035810166 1.1968961108660645 0.2313470502402279 1.0 1.0 7 Q9UHX1 1 |
| Childhood onset sensorineural hearing impairment 0.7179196342764735 1.1950950510825016 0.2320498953429055 1.0 1.0 3 P23634 1 |
| Prelingual sensorineural hearing impairment 0.7179196342764735 1.1950950510825016 0.2320498953429055 1.0 1.0 3 P23634 1 |
| Slurred speech 0.5975335731604696 1.195023292730412 0.2320779296689239 1.0 1.0 7 P16278 1 |
| Chronic rhinitis 0.701254886012242 1.19477517219472 0.2321748831434802 1.0 1.0 4 P51798 1 |
| Progressive extrapyramidal movement disorder 0.7176502136257952 1.193960964098923 0.232493238138699 1.0 1.0 3 Q9BPX6 1 |
| Degeneration of the lateral corticospinal tracts 0.6003781114169077 1.1920501259311118 0.23324159118423 1.0 1.0 6 O00400,O75298 2 |
| Thoracic hypoplasia 0.4270593010373297 1.190751002978197 0.2337513489727958 1.0 1.0 29 P04062,P51798,Q9UHX1,Q96A33,P16435,Q96HY6,Q14739 7 |
| Loss of speech 0.5263359212796526 1.1906214861023507 0.2338022128489458 1.0 1.0 19 P17900,P07602,O43681,P50897,Q9NZJ7,O15118 6 |
| Blindness 0.4570019220650709 1.1905212016842972 0.233841601940528 1.0 1.0 73 Q15555,Q9Y6M9,Q86Y39,Q96CU9,O43676,P03886,P16278,P53701,Q9H6K4,P21912,Q8NHS3,Q9NZJ7,P17900,P51798,P00846,O75306,P50897,Q8IUX1,Q9NX14,O96000,P07602,Q9NPL8 22 |
| Skin rash 0.5552141978145273 1.187773516345976 0.2349226509977737 1.0 1.0 15 Q14739,P21912,Q06136 3 |
| Preaxial polydactyly 0.5829419584771023 1.1846868720035673 0.2361412749323419 1.0 1.0 10 Q96J42,O43924,O95202 3 |
| Loss of subcutaneous adipose tissue in limbs 0.6986650712129621 1.1840014936281524 0.236412471565717 1.0 1.0 4 O75844 1 |
| Purpura 0.5470974556755307 1.1799113889975412 0.2380354596736587 1.0 1.0 16 P04062,P51798,P21964,Q6UN15,P38435,Q8NCH0 6 |
| Titubation 0.5905556162224285 1.17920072977114 0.2383182555731164 1.0 1.0 8 Q99720,Q5T8D3,Q5JRX3 3 |
| Retinal coloboma 0.6100230165220158 1.1790516432031062 0.2383776123616954 1.0 1.0 5 Q9UHX1 1 |
| Rigidity 0.4192676391551527 1.1790360629068992 0.2383838160468541 1.0 1.0 50 P04062,P07602,P00846,Q9H6K4,Q9Y287,Q15392,Q96CU9,P16278,Q9NZJ7 9 |
| Sea blue histiocytosis 0.9210245464247606 1.178193533720969 0.2387194598678488 1.0 1.0 2 P16278 1 |
| Hydrops fetalis 0.398832922495188 1.1758011123470715 0.2396743618027561 1.0 1.0 38 P04062,Q14739,Q9BT22,P16278,Q13510,P10619 6 |
| Abnormality of dental color 0.7130598539815377 1.1746450822021752 0.2401367390591677 1.0 1.0 3 P16278 1 |
| Preaxial hand polydactyly 0.5920353312266733 1.167850082886732 0.2428672421094484 1.0 1.0 7 Q96J42,O95202 2 |
| Memory impairment 0.4001554360209554 1.1668762191577946 0.2432603608415993 1.0 1.0 31 P49768,P05067,P07602,P49327,Q9UQN3,Q9UJS0,O96008,P03886,Q9NZJ7,P00403,O43681 11 |
| Calcinosis 0.6939583308225961 1.1644228913852812 0.2442526752002467 1.0 1.0 4 O75844 1 |
| Chorioretinal dysplasia 0.6069181475751901 1.1642958257134135 0.2443041476312393 1.0 1.0 5 P53701,Q9NX14 2 |
| Fractures of the long bones 0.7097259607455351 1.160624903963323 0.2457944731771744 1.0 1.0 3 Q13126 1 |
| Bruising susceptibility 0.4556960793583304 1.152405945749708 0.2491542988731545 1.0 1.0 26 Q13126,P04062,P51798,Q14108,Q6UN15,P38435,P10644,Q8NCH0 8 |
| Distal sensory loss of all modalities 0.7077340479129577 1.1522520707273725 0.2492175060786541 1.0 1.0 3 O15269 1 |
| Hypoplasia of the musculature 0.6043573489661307 1.1521239876224971 0.2492701272918096 1.0 1.0 5 Q9NR77 1 |
| Parkinsonism with favorable response to dopaminergic medication 0.58480349278238 1.150275035193015 0.2500306097456115 1.0 1.0 8 P04062,P07602 2 |
| Multiple lipomas 0.6035841057065695 1.148448422377515 0.2507834937041977 1.0 1.0 5 O95140,Q8TAA9 2 |
| Eeg with irregular generalized spike and wave complexes 0.7064056939501833 1.146670166100577 0.2515179651107022 1.0 1.0 3 P11166,Q96CW1 2 |
| Hypoplasia of the uterus 0.5839433395369795 1.1459475031693884 0.2518168742325448 1.0 1.0 8 P53701,Q9NX14,Q16740 3 |
| Abnormality of retinal pigmentation 0.4474008237059797 1.145282933048262 0.2520919734810891 1.0 1.0 70 Q9UG56,Q15555,O75381,Q96S66,Q96CU9,P03886,P53701,Q15526,P21912,Q9Y5Y5,Q8NHS3,P56589,P00846,O76024,O75306,Q9P0J0,P40855,Q9NX14,Q7KZN9,Q13432,P51648,O00483,P00403 23 |
| Urinary urgency 0.5873146226227024 1.14450201283496 0.2524155036129487 1.0 1.0 7 O75298,P04062 2 |
| Amyotrophic lateral sclerosis 0.534029376716058 1.1441652014580874 0.2525551316498697 1.0 1.0 17 Q15165,Q99720,Q92804,P49768,O95292,P35637 6 |
| Abnormal pericardium morphology 0.5792342105913512 1.1424903945313012 0.2532502364504858 1.0 1.0 9 P04062,Q14108,P14174 3 |
| Cystic liver disease 0.6020290418091254 1.141056274205584 0.2538465057600108 1.0 1.0 5 Q96J42 1 |
| Muscle stiffness 0.5334331920080038 1.1405805806347025 0.2540445022288331 1.0 1.0 17 Q9NZJ7,Q15392,P07602,P00846 4 |
| Dyschromatopsia 0.589535574010373 1.139308265824856 0.2545746019960297 1.0 1.0 6 Q9H6K4,Q9H061 2 |
| Abnormal peripheral myelination 0.4208793392642863 1.138570491339422 0.2548823420366617 1.0 1.0 29 Q9NR77,Q15526,P07602,P00846,P03886,Q9NZJ7,O43681 7 |
| Death in infancy 0.4163921637374613 1.1372984886401305 0.2554135263576231 1.0 1.0 51 O75718,P04062,P07602,Q9HC21,O75381,Q9Y5Y5,Q6NUK1,P40855,O43819,Q9BT22,P16278,Q9NZJ7,P56589 13 |
| Hemivertebrae 0.5780973272776235 1.136668869104286 0.2556767380006191 1.0 1.0 9 Q9UHX1,O60826,P16435,Q9UM00,Q9Y619 5 |
| Urinary bladder sphincter dysfunction 0.5850321208454856 1.1332080480938769 0.2571268952318544 1.0 1.0 7 Q9NR77 1 |
| Vertebral hypoplasia 0.5730328330400919 1.1330577823628478 0.2571899887987114 1.0 1.0 10 Q96HY6,Q8TAA9,P16278,Q14739 4 |
| Occipital meningocele 0.6860678205318813 1.1316100789138084 0.2577984008439087 1.0 1.0 4 P21964 1 |
| Decreased activity of mitochondrial complex iv 0.5318458886670149 1.131034423911003 0.2580406028613509 1.0 1.0 17 Q9Y584,Q9Y2R0,Q70HW3,O00483,P13073 5 |
| Cogwheel rigidity 0.5995205220681199 1.129131311408305 0.2588424444190988 1.0 1.0 5 P00846 1 |
| Thickened nuchal skin fold 0.5557074369340173 1.1218399740612877 0.261930486474009 1.0 1.0 13 O75381,P56589,P40855,Q9Y5Y5 4 |
| Decreased proportion of cd4 positive helper t cells 0.6833162338490487 1.1201718151845172 0.2626405521005199 1.0 1.0 4 Q9H0U3,Q13432 2 |
| Goiter 0.5975360285624991 1.1196972939758283 0.2628427785811231 1.0 1.0 5 P21912 1 |
| Postaxial hand polydactyly 0.5746097410230694 1.1188050620004872 0.2632233117011071 1.0 1.0 9 Q14739,Q10713,Q96J42,O43924 4 |
| Atlantoaxial abnormality 0.6827075389589441 1.1176418660894207 0.2637199804959746 1.0 1.0 4 Q8NCH0,Q9NWM8 2 |
| Abnormality of the umbilical cord 0.5849468784795044 1.1169669603730203 0.2640084522220285 1.0 1.0 6 O75844 1 |
| Spastic paraplegia 0.4057981031753366 1.1152794323699298 0.2647306963425475 1.0 1.0 46 Q7KZN9,P04062,P00846,O60313,O75306,Q9P0J0,O00400,Q96CU9,O75298,Q9Y619,P56589 11 |
| Hyperventilation 0.596375410105365 1.1141798987726528 0.2652020171171514 1.0 1.0 5 P00846 1 |
| Fetal ultrasound soft marker 0.5358461080176189 1.113772743874053 0.2653766927497598 1.0 1.0 16 O75381,P16435,Q9Y5Y5,P40855,P56589 5 |
| Motor neuron atrophy 0.4888484623542857 1.111889019643845 0.2661858703849205 1.0 1.0 22 Q99720,Q92804,Q15165,O95292,P49768,Q16637,P35637,Q13510 8 |
| Abnormal labia minora morphology 0.5957912243632038 1.111402799366001 0.2663950079211101 1.0 1.0 5 Q9Y619 1 |
| Abnormality of somatosensory evoked potentials 0.6978647686832709 1.1108170093442682 0.2666471234528171 1.0 1.0 3 Q9NQZ5,O60220 2 |
| Severe short stature 0.4884129208628377 1.1089205389991643 0.2674644625484748 1.0 1.0 22 P53701,P21912,Q15392,P10619,P16278,Q9NX14,Q9Y619 7 |
| Ankylosis 0.5952204215619694 1.1086893442311216 0.2675642203192816 1.0 1.0 5 O75844,P16435 2 |
| Generalized neonatal hypotonia 0.5945912357466465 1.1056983853205695 0.2688570891465849 1.0 1.0 5 Q9Y5Y5 1 |
| Stillbirth 0.5624873834324655 1.1021490053202232 0.2703968974648623 1.0 1.0 11 Q14739,O75844,P04062 3 |
| Retinal dysplasia 0.5752038030997595 1.1019529482324055 0.2704821277091875 1.0 1.0 8 Q10713,P53701,Q9NX14,O43924 4 |
| Dysmetria 0.4125301970139073 1.1015382679359629 0.2706624588459965 1.0 1.0 51 O14773,O43292,O75027,O60313,P41440,Q9Y5Y5,Q9NPL8,O75503,Q5JRX3,O15121,Q9Y4P3,Q8IV08,Q10713,Q5T8D3,Q6P4A7 15 |
| Agenesis of cerebellar vermis 0.9003913198150141 1.0996241161786549 0.2714959299692006 1.0 1.0 2 O43924 1 |
| Paralysis 0.4023239506014508 1.0983333712775896 0.2720589449831696 1.0 1.0 45 P17900,Q02978,Q92804,Q9NR77,P10253,Q15165,P04062,P51798,O95292,P50402,Q9HC21,P35637,P21912,Q9UQN3,Q9BTV4 15 |
| Diffuse cerebral atrophy 0.5395681815816009 1.0977630478115747 0.2723079710056626 1.0 1.0 15 P16278,Q9NZJ7,P07602 3 |
| External ophthalmoplegia 0.5565581608706862 1.0970481848144358 0.2726203290226496 1.0 1.0 12 O60313,P21912,P12235,P03886,P00403 5 |
| Decreased absent ankle reflexes 0.5614458816763337 1.0966122289208338 0.2728109394074234 1.0 1.0 11 O60313,Q9H6K4,P12235,Q15120,P07196 5 |
| Hypopigmented skin patches 0.5025539859715706 1.0903993743344862 0.2755372573481254 1.0 1.0 20 P53701,P07602,P21912,P21964,Q9NZJ7 5 |
| Abnormal larynx morphology 0.4856018532749351 1.089753318291053 0.275821822344233 1.0 1.0 22 P07602,Q9UHX1,P16435,P21964,Q14739,Q9NZJ7,Q13510 7 |
| Bronchitis 0.6755058467351021 1.0877216505201208 0.2767180068568478 1.0 1.0 4 Q9H0U3 1 |
| Abnormal neuron morphology 0.4366215168091524 1.0861486654176602 0.2774132245885155 1.0 1.0 27 Q99720,Q92804,Q15165,O95292,P49768,Q16637,P35637,Q13510 8 |
| Slow decrease in visual acuity 0.5749030137255473 1.0830590791790289 0.2787822007268903 1.0 1.0 7 P00846,P03886 2 |
| Aplasia hypoplasia involving bones of the thorax 0.378542602436061 1.0812621242939235 0.2795805304246337 1.0 1.0 32 Q9UHX1,Q9BV10,Q96HY6,P16435,O75431,Q14739,Q8TAA9,O75844,Q9Y619 9 |
| Acne inversa 0.5894500378419558 1.0812609773854511 0.2795810404552181 1.0 1.0 5 Q8NBL1,Q92542 2 |
| Noncompaction cardiomyopathy 0.6735466702413619 1.0795866947663073 0.2803262689677339 1.0 1.0 4 P21912 1 |
| Bone fracture 0.5881967512397381 1.0753046935757753 0.2822383355292399 1.0 1.0 5 Q13126 1 |
| Abnormal circulating carbohydrate concentration 0.389479641644336 1.071944826981329 0.2837448142060714 1.0 1.0 39 O96000,Q9Y6M9,O75306,Q86Y39,P21912,Q9NPL8,P22695,Q96CU9,Q70HW3,Q5JRX3,Q9Y375,O43676,P03886,Q8IUX1,Q9UJS0,Q9NX14 16 |
| Abnormal mitral valve physiology 0.3805674120280134 1.0679115317186303 0.2855604202416288 1.0 1.0 34 P53701,Q15526,P04062,O75306,O75431,P06280,Q9Y4P3,O43819,O75844,Q9NX14,Q96L58 11 |
| Ecchymosis 0.5557314359065828 1.0662234047255637 0.2863226645188792 1.0 1.0 11 Q6UN15,P38435,P04062,Q8NCH0 4 |
| Abnormality of adrenal physiology 0.4005541824405438 1.063098291260158 0.2877373792856419 1.0 1.0 30 O75381,P16435,Q9Y5Y5,P40855,Q13423,O95470,P56589 7 |
| Neoplasm of fatty tissue 0.5637415709160972 1.0630980428460772 0.2877374919278872 1.0 1.0 9 P21912 1 |
| Macular purpura 0.5443477929011064 1.059042583787282 0.289580386583673 1.0 1.0 13 P04062,P51798,Q6UN15,P38435,Q8NCH0 5 |
| Global brain atrophy 0.4890069977128067 1.0551713940051568 0.291346944591079 1.0 1.0 21 Q15526,O60220,Q9UHX1,P07602,O75306,Q99757,O43819,Q9NZJ7 8 |
| Focal t2 hyperintense basal ganglia lesion 0.471691420098043 1.055123545806771 0.2913688246139236 1.0 1.0 23 Q7KZN9,Q15526,P00846,O75306,Q9P0J0,Q96CU9,P03886 7 |
| Morphological abnormality of the pyramidal tract 0.4804536566883317 1.0546172434541752 0.2916004142277617 1.0 1.0 22 P00846,P35637,O00400,O75298,Q9Y4P3,Q9UBB4,Q9Y619 7 |
| Neurodegeneration 0.3995775350775371 1.0545015225083616 0.2916533639356173 1.0 1.0 30 P17900,Q15165,Q92804,O95292,P35637,Q99757,Q13057,Q8NHS3 8 |
| Emg chronic denervation signs 0.5431785056997698 1.0525743235699436 0.292536130224605 1.0 1.0 13 P07602,O43819,Q9NZJ7,Q13510,O43681 5 |
| Ventricular arrhythmia 0.3990088332460982 1.0494941931600854 0.2939507264249046 1.0 1.0 30 P10253,P13473,P42892,P00846,P50402,O75306,P21912,O43772,P12235,P23786,P0DP25,P03886,Q9NX14,P00403 14 |
| Anteriorly placed anus 0.5525743396641861 1.0494286434047873 0.2939808809045359 1.0 1.0 11 Q6NUK1,P16435,P53701,Q9NX14 4 |
| Episodic tachypnea 0.5678501064788509 1.048123222773315 0.2945818381339644 1.0 1.0 7 P22695,O43924 2 |
| Aplasia hypoplasia of the patella 0.665563920154691 1.0464663452309002 0.2953457753345776 1.0 1.0 4 Q9Y619 1 |
| Saccadic oscillation 0.8847385272145178 1.0404639957471349 0.2981243830289508 1.0 1.0 2 P04062 1 |
| Opsoclonus 0.8847385272145178 1.0404639957471349 0.2981243830289508 1.0 1.0 2 P04062 1 |
| Infantile axial hypotonia 0.5622318560141262 1.03659992039878 0.2999223504179413 1.0 1.0 8 Q9NZJ7,P07602 2 |
| Biliary cirrhosis 0.5681512575240835 1.0351419430452304 0.3006026271947886 1.0 1.0 6 P09601 1 |
| Multiple prenatal fractures 0.5793979629489661 1.033505215130207 0.301367531225619 1.0 1.0 5 Q14739,O75718 2 |
| Abnormal circulating free fatty acid concentration 0.6621286143187597 1.0322282225799064 0.3019652168145708 1.0 1.0 4 O75431 1 |
| Abnormal sensory nerve conduction velocity 0.5785742125244233 1.0295939107661007 0.3032006749096139 1.0 1.0 5 O95140,Q9NR77,O15269 3 |
| Scaphocephaly 0.661449311013415 1.0294139570780885 0.3032851932875784 1.0 1.0 4 P40855,Q969X5 2 |
| Impaired visuospatial constructive cognition 0.5638416458747678 1.0282663122190925 0.3038245730072062 1.0 1.0 7 P00403,P03886 2 |
| Prominent superficial blood vessels 0.548380254546902 1.0271136181616307 0.3043669668899633 1.0 1.0 11 Q6NUK1,O75844,Q9Y487 3 |
| Progressive visual loss 0.5000494637922688 1.0247713178796722 0.3054711029229169 1.0 1.0 19 O14773,P00846,O75306,P50897,O75503,P03886 6 |
| Abnormal circulating ferritin concentration 0.6765124555160108 1.021549641298796 0.3069941026359097 1.0 1.0 3 Q9Y276,P41440 2 |
| Increased bone mineral density 0.4386100157590013 1.0214233858735118 0.3070538902393087 1.0 1.0 26 Q13126,P04062,P51798,P54802,Q15392,Q14108,Q14739 7 |
| Abnormal glycosylation 0.506334179159029 1.0187444164133168 0.3083243200382686 1.0 1.0 18 P46977,Q9H0U3,P51571,Q9BT22,Q8N511 5 |
| Demyelinating peripheral neuropathy 0.5196793822986785 1.018515661525307 0.3084329618284269 1.0 1.0 16 Q9NR77,P00846,P07196,O15121,P03886,P41440 6 |
| Abnormal auditory evoked potentials 0.5549206425903516 1.017862545069884 0.3087432835514216 1.0 1.0 9 O60313,Q9NZJ7,O60220,P07602 4 |
| Vitiligo 0.561089704713075 1.014634709339802 0.3102799875858688 1.0 1.0 7 Q8N766,P00403,P03886 3 |
| Tricuspid valve prolapse 0.6747134433858317 1.0140585154326196 0.3105548315053956 1.0 1.0 3 P53701 1 |
| Multicystic kidney dysplasia 0.4981095235043828 1.012500653914995 0.3112987341925719 1.0 1.0 19 O75381,Q9Y5Y5,P40855,Q10713,Q96J42,P56589 6 |
| Increased total bilirubin 0.6570688760793405 1.0112767600628978 0.3118839858909583 1.0 1.0 4 P23786 1 |
| Abnormal larynx physiology 0.5302249930611749 1.0107149527021864 0.3121528783054388 1.0 1.0 14 Q15165,Q92804,O95292,P35637,Q13510 5 |
| Abnormal liver physiology 0.5744670951305528 1.0100993296103618 0.3124477033952446 1.0 1.0 5 Q13510 1 |
| Ovotestis 0.8765563856278944 1.009723655977883 0.3126277055467394 1.0 1.0 2 P53701 1 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.6736176509928922 1.0094982771597574 0.3127357274611857 1.0 1.0 3 O14773 1 |
| Paraplegia 0.3960585216308512 1.009022876536887 0.3129636630438062 1.0 1.0 47 Q7KZN9,P04062,P00846,O60313,O75306,Q9P0J0,O00400,Q96CU9,O75298,Q9Y619,P56589 11 |
| Abnormal circulating acetylcarnitine concentration 0.5626067143553167 1.0081290868240669 0.3133924955522404 1.0 1.0 6 O43772,P23786 2 |
| Large placenta 0.6731890835876464 1.0077153156945131 0.3135911502358881 1.0 1.0 3 O75844 1 |
| Prominent ear helix 0.6559323909667696 1.006574249674167 0.3141394140323386 1.0 1.0 4 O75844 1 |
| Macular degeneration 0.5231646603419263 1.003167250402642 0.3157801714328379 1.0 1.0 15 P51648,P04062,P50897 3 |
| Bowing of the legs 0.3903859365213049 1.0020772189866791 0.3163062995604311 1.0 1.0 44 Q13126,Q9NR77,P51798,Q96HY6,P16435,O75431,Q9Y4P3,P16278,Q7LGA3,Q9Y619 10 |
| Progressive external ophthalmoplegia 0.555255342334138 1.001447282720481 0.3166106146042984 1.0 1.0 8 O60313,P00403,P12235,P03886 4 |
| Abnormal peristalsis 0.5725899594392816 1.0011936062390374 0.3167332170646193 1.0 1.0 5 Q9NRG9,O60216,P06280 3 |
| Aphasia 0.376468638791873 0.9967948943689822 0.3188640770152224 1.0 1.0 36 P53701,P21964,Q7LGA3,O96008,P03886,Q9Y296,Q9NX14,P00403 8 |
| Absent thumbnail 0.6697422805981865 0.993387446629292 0.3205211768242977 1.0 1.0 3 Q9H936 1 |
| Facial capillary hemangioma 0.8715759516186421 0.991081552891173 0.3216457598609279 1.0 1.0 2 P16435 1 |
| Nuclear cataract 0.6520591516487886 0.9905581323056568 0.3219013900910177 1.0 1.0 4 Q99797 1 |
| Abnormality of femur morphology 0.4132626051014983 0.9897749440255424 0.3222841342934199 1.0 1.0 59 O75718,P16435,Q14739,P16278,Q9Y619,Q9Y487,Q9UHX1,Q9NVV0,Q9NZJ7,O00116,P04062,P51798,Q9BV10,Q96A33,O75431,P06280,O75844,Q96AY3,P07602,Q96HY6,Q32P28,Q7LGA3 22 |
| Prenatal maternal abnormality 0.5265182421828609 0.9897748420788256 0.3222841841341126 1.0 1.0 14 Q14739,P16435,Q8TAA9 3 |
| Joint subluxation 0.5700580907068677 0.9891863443501578 0.3225719783774767 1.0 1.0 5 P16278 1 |
| Lower limb spasticity 0.4405941157960924 0.987353306900055 0.3234694663315653 1.0 1.0 77 O60313,Q96CU9,Q9Y619,Q15526,Q9H6K4,P21912,Q9Y5Y5,Q9NZJ7,P56589,Q99720,P04062,P00846,O75306,Q9P0J0,O00400,Q5XKP0,Q7KZN9,P07602,O75298 19 |
| Abnormality of circulating glucocorticoid level 0.5550197907890377 0.984574073356287 0.3248333300281896 1.0 1.0 7 P16435,P10644,Q13423 3 |
| Malrotation of small bowel 0.6505494645687968 0.9843200895883556 0.3249581548062472 1.0 1.0 4 O95202 1 |
| Adrenal insufficiency 0.4434155712955656 0.984265300381582 0.324985086015531 1.0 1.0 25 O75381,P16435,Q9Y5Y5,P40855,Q13423,O95470 6 |
| Abnormal spermatogenesis 0.5518254714761959 0.9841688010171252 0.3250325230607558 1.0 1.0 8 P04062,Q13423 2 |
| Abnormality of the gastric mucosa 0.5125716973114919 0.9765925513045862 0.328770908194177 1.0 1.0 16 P04062,Q8N5K1,O76024,Q14739,Q9Y4P3,Q6PGP7 6 |
| Bacterial endocarditis 0.8673070081821457 0.9751472750824646 0.32948721124942 1.0 1.0 2 P04062 1 |
| Congenital craniofacial dysostosis 0.8673070081821439 0.975147275082458 0.3294872112494234 1.0 1.0 2 Q6NUK1 1 |
| Narrow vertebral interpedicular distance 0.8673070081821417 0.9751472750824512 0.3294872112494267 1.0 1.0 2 Q96HY6 1 |
| Vertebral arch anomaly 0.8673070081821417 0.9751472750824512 0.3294872112494267 1.0 1.0 2 Q96HY6 1 |
| Atrioventricular canal defect 0.5664905168495091 0.97227759488926 0.3309124669963577 1.0 1.0 5 Q9UHX1 1 |
| Hydrocephalus 0.4144363098621343 0.9716431491151508 0.33122810846772 1.0 1.0 61 P53701,P04062,P51798,P16435,Q9UBM7,Q9H490,P23786,Q15392,P21964,Q6NUK1,P40855,Q8TAA9,O95202,P10644,Q10713,Q96J42,Q9NX14 17 |
| Dental crowding 0.4416320801374048 0.9709636959478174 0.3315663572902314 1.0 1.0 25 Q96A33,Q9UBM7,O75431,O75844,Q01105 5 |
| Papule 0.5113303512388362 0.9692700488038082 0.3324104689830345 1.0 1.0 16 O75844,P38435,P16615 3 |
| Abnormal diaphysis morphology 0.4122112615635021 0.9655768762785324 0.3342559507885625 1.0 1.0 60 O75718,Q9NR77,P16435,Q14739,P48651,P07237,Q9HC07,Q96J42,P16278,Q9Y619,Q9Y487,Q9NVV0,Q13126,P51798,O75431,Q96AY3,Q96HY6,Q32P28,Q9Y4P3,Q7LGA3 20 |
| Abnormality of earlobe 0.4589455577908636 0.965545406751938 0.3342717044712007 1.0 1.0 23 P53701,P16435,Q15392,P21964,Q7LGA3 5 |
| Short ribs 0.5465084699545967 0.9573930005894334 0.338368929988722 1.0 1.0 8 Q14739,Q9Y619,Q9BV10 3 |
| Ulnar deviation of the wrist 0.6425740074704889 0.9514132546523644 0.3413946344108627 1.0 1.0 4 P16278,P16435 2 |
| Abnormal electroretinogram 0.368300414817431 0.9512846861329924 0.3414598786793104 1.0 1.0 34 O14773,Q15555,P00846,Q53H12,P12235,P50897,Q96S66,O43924,Q8N766 9 |
| Cerebral white matter atrophy 0.4809412988843777 0.9502676489961632 0.3419762726040436 1.0 1.0 20 P51970,O60313,P51572,Q9Y5Y5,O75503,P51659,Q8N766 7 |
| Dilatation of the cerebral artery 0.5380132137362712 0.9502488053578698 0.3419858450490947 1.0 1.0 10 P38435,P10644 2 |
| Disproportionate short trunk short stature 0.65914936189545 0.9494973408586516 0.342367723812798 1.0 1.0 3 P16278 1 |
| Angina pectoris 0.6588984371835496 0.9484605103105028 0.3428950672033608 1.0 1.0 3 O75844 1 |
| Abnormal placental size 0.6412915753321302 0.946130061894447 0.3440822524269291 1.0 1.0 4 O75844 1 |
| Nephropathy 0.5011154899346113 0.945781656155765 0.3442599636906986 1.0 1.0 17 O76024,P57740,Q14108,P06280,P03886,Q10713,P00403 7 |
| Abnormal vitreous humor morphology 0.5467932191093768 0.943859216198176 0.3452415954740404 1.0 1.0 7 P53701 1 |
| Dilated cardiomyopathy 0.3721206104071907 0.9395823848003078 0.3474318153436668 1.0 1.0 37 P53701,Q15526,P49768,P13473,P00846,P57740,O75306,Q96DA6,P12235,P23786,P42167,O43819,P03886,P16278,Q9NX14,P00403 16 |
| Exercise induced muscle cramps 0.5483437476449458 0.9386962414125282 0.3478867237498146 1.0 1.0 6 P13473 1 |
| T lymphocytopenia 0.5452192078135941 0.9360741945336868 0.3492349884433299 1.0 1.0 7 Q9H0U3,Q13432 2 |
| Gaze evoked nystagmus 0.5451375743886191 0.9356704909873668 0.3494428684324708 1.0 1.0 7 P41440,Q9UBB4,Q10713 3 |
| Abnormal acetabulum morphology 0.505611041651131 0.9355350084676772 0.3495126503573695 1.0 1.0 16 Q96AY3,O75718,Q8WVQ1,Q9Y584,Q969X5,P16278,Q96L58 7 |
| Fat malabsorption 0.5418985962485512 0.9341915410430685 0.3502050983592695 1.0 1.0 8 Q96A33 1 |
| Abnormal social behavior 0.4165272441522675 0.9337517012147746 0.3504319889190728 1.0 1.0 65 Q9Y6M9,Q86Y39,O95298,Q96CU9,O43676,P03886,Q15907,Q9UHX1,O96008,Q9NZJ7,O75306,Q9P0J0,Q5XKP0,Q9Y375,Q8IUX1,Q9NX14,O43681,O96000,P07602,Q9NPL8,Q9Y4P3 21 |
| Fasciculations 0.3740224615493934 0.9278836047324042 0.353467949897281 1.0 1.0 31 O95292,Q9NZJ7,P49768,P07602,Q16637,P35637,Q969X5,P06280,Q9BQT8,O43819,P07196,Q13510 12 |
| Xerostomia 0.5094066382200124 0.9237827780194824 0.3555994235342092 1.0 1.0 15 Q15165,Q92804,O95292,P35637,Q14739 5 |
| Abnormally lax or hyperextensible skin 0.3819665875776174 0.9229857500257664 0.356014631366663 1.0 1.0 44 Q15904,Q9Y487,O96000,P04062,Q9UHX1,Q15555,Q9NWM8,Q9BV10,Q6NUK1,P48651,P38435,Q9Y4P3,Q9NX14,Q8NCH0 14 |
| Osteolytic defects of the distal phalanges of the hand 0.63565766139054 0.92294988552943 0.3560333219848584 1.0 1.0 4 O75844 1 |
| Decreased muscle mass 0.5032589689337549 0.9216641524920932 0.3567037845099443 1.0 1.0 16 Q8NCH0,Q8TAA9,O95202 3 |
| Abnormal cranial nerve physiology 0.4027174335981436 0.9214699805252252 0.3568051071530651 1.0 1.0 57 Q9NR77,P07602,Q9UHX1,O75381,P21912,Q9Y5Y5,P08247,P40855,O43819,Q9NZJ7,Q13510,P56589 12 |
| Abnormal circulating dicarboxylic acid concentration 0.371512822593793 0.9179643113787034 0.3586375503714238 1.0 1.0 38 Q16134,P37268,P11166,Q96DA6,P23786,Q14739,P22695,P40855,Q9UGP8,O75648,Q9UJS0,P28288,P41440,P22033 14 |
| Overriding aorta 0.5317212178156541 0.91742608294667 0.3589194100836854 1.0 1.0 10 P53701,Q9NX14 2 |
| Thin ribs 0.5273574089278348 0.915294284687009 0.3600371587027418 1.0 1.0 11 O75844,O75431,Q9Y619 3 |
| Tetraplegia tetraparesis 0.3827600582687093 0.915060746824834 0.3601597404238827 1.0 1.0 45 P17900,P51970,P49768,P07602,P00846,P35637,P51572,P21912,Q9UBX3,Q13423,Q9NZJ7,Q9Y296,O43681 13 |
| Abnormality of the nasal bone 0.6336417385037533 0.9146680423028636 0.3603659262215424 1.0 1.0 4 Q6NUK1 1 |
| Hyperlipidemia 0.4513191205994443 0.911887313343976 0.3618280406756533 1.0 1.0 23 O95470,P50402,O75431,P23786,P06280,Q9UJS0,O75844 7 |
| Abnormality of the anus 0.3673395211982145 0.91008742112506 0.3627764078068449 1.0 1.0 36 P53701,Q8NBL1,P16435,P21964,Q6NUK1,P48651,Q8TAA9,P16615,Q9NX14 9 |
| Pheochromocytoma 0.5398563353231267 0.9095656453685969 0.3630516232980985 1.0 1.0 7 P21912,P10644 2 |
| Hypertension associated with pheochromocytoma 0.5398563353231268 0.9095656453685969 0.3630516232980985 1.0 1.0 7 P21912,P10644 2 |
| Elevated calcitonin 0.5398563353231267 0.9095656453685969 0.3630516232980985 1.0 1.0 7 P21912,P10644 2 |
| Hypergranulosis 0.8495197438633975 0.9092447685991 0.3632209376208077 1.0 1.0 2 P16615 1 |
| Low frustration tolerance 0.5393645604843129 0.9071362132347176 0.3643347700221688 1.0 1.0 7 P04062 1 |
| Papilloma 0.539239669171044 0.906519274589108 0.3646610676537225 1.0 1.0 7 P16615 1 |
| Muscular ventricular septal defect 0.5525556173643623 0.9063800109591016 0.3647347491666384 1.0 1.0 5 Q9BV10 1 |
| Calcific stippling 0.648398576512465 0.9052065247284804 0.3653559858839772 1.0 1.0 3 P50542,P51659 2 |
| Neck muscle weakness 0.5253912209126371 0.9048481640021012 0.3655458315568449 1.0 1.0 11 Q99720,P07602,P35637,P53007,Q9NZJ7,Q9BTV4 6 |
| Anophthalmia 0.5325827506656042 0.9033993545316436 0.3663139824495003 1.0 1.0 9 P53701,Q9NX14,Q96J42 3 |
| Reduced subcutaneous adipose tissue 0.5325095681750581 0.9030249193806404 0.3665126695425607 1.0 1.0 9 O75844 1 |
| Hypoplasia of the iris 0.6301716649347182 0.900428777026754 0.3678921122379499 1.0 1.0 4 O95202 1 |
| Ectopic anus 0.5156767438848235 0.9004246128300096 0.3678943274495498 1.0 1.0 13 Q6NUK1,P16435,P53701,Q9NX14 4 |
| Supranuclear gaze palsy 0.4993267937288879 0.8984813914587556 0.3689289615751525 1.0 1.0 16 Q99720,Q9NZJ7,P04062,P07602 4 |
| Broad ribs 0.5503591218531455 0.8960192367474784 0.3702424892513538 1.0 1.0 5 P16278 1 |
| Hepatosplenomegaly 0.4026403696567845 0.8956453915463235 0.3704421845483399 1.0 1.0 28 P04062,P51798,Q14739,P10619,P16278,Q13510 6 |
| Abnormal tricuspid valve morphology 0.5272686605484909 0.8942186182341799 0.371204932571904 1.0 1.0 10 P53701,P21964 2 |
| Decreased calvarial ossification 0.6273584478214373 0.8889010637922997 0.3740562536895284 1.0 1.0 4 O75844 1 |
| Nephrotic syndrome 0.4393861319300917 0.8879052165806406 0.3745917384402486 1.0 1.0 24 P57740,Q14108,P06280,Q96D53,Q9BT22,O95470,Q8NCH0 7 |
| Tetraparesis 0.3606864349658023 0.8786929827097791 0.3795677644862016 1.0 1.0 34 P17900,P07602,P00846,P21912,Q9UBX3,Q9NZJ7 6 |
| Severe muscular hypotonia 0.4197545603658724 0.8763087800638628 0.3808621931901172 1.0 1.0 26 O75381,Q9Y5Y5,O43505,P40855,Q01105,P56589 6 |
| Abnormality of the nasal skeleton 0.5457621049050553 0.8743633654870738 0.3819204013840318 1.0 1.0 5 Q6NUK1 1 |
| Progeroid facial appearance 0.5321358720178092 0.8714581288498372 0.3835040585319955 1.0 1.0 7 O75844 1 |
| Proximal amyotrophy 0.5261744526346334 0.870634458864789 0.3839537752026121 1.0 1.0 9 P50402,Q16637,P35637,Q06210,P07196,Q9BTV4 6 |
| Abnormal pupil morphology 0.5260715927770047 0.8701089615020855 0.3842408607825605 1.0 1.0 9 Q9NR77 1 |
| Basal ganglia cysts 0.531732433029471 0.8694688977183407 0.3845907127397878 1.0 1.0 7 P00846 1 |
| Dermal atrophy 0.4448145227073711 0.8661201155650076 0.3864242950914334 1.0 1.0 23 P53701,Q15392,P10644,O75844,Q9NX14,Q8NCH0 6 |
| Poor wound healing 0.6217246985201543 0.8658624614182359 0.3865655910037313 1.0 1.0 4 P04062 1 |
| Increased muscle lipid content 0.5179946569967246 0.865586368915984 0.3867170333845084 1.0 1.0 11 Q15526,Q8NI60,P23786,Q9Y4W6,O00483 5 |
| Delayed ability to stand 0.6378786434133931 0.8621574584306588 0.3886008762150532 1.0 1.0 3 P21912 1 |
| Retinopathy 0.4080202220096665 0.8589517221926964 0.3903671519304561 1.0 1.0 27 Q15526,Q15555,P00846,O75306,Q99757,P49327,Q9Y6B6,P51648,O43819,O95202,Q8NHS3,Q9Y375 12 |
| Abnormality iris morphology 0.4121469174399624 0.8514945688180607 0.3944946790487071 1.0 1.0 68 P53701,Q9NR77,Q9UHX1,O75381,Q9UBM7,P21912,Q9Y5Y5,Q7LGA3,P40855,Q9Y4P3,O95202,P10644,Q10713,Q96J42,Q9NX14,P56589 16 |
| Abnormal protein o linked glycosylation 0.6352086804049464 0.8512828315448766 0.3946122595852457 1.0 1.0 3 Q8N511 1 |
| Abnormal visual electrophysiology 0.3840311492659913 0.8512004714140373 0.3946580009919946 1.0 1.0 50 O14773,Q15555,O60313,Q96S66,O43924,Q15067,Q8N766,O60220,O95140,Q9H936,Q9NZJ7,P51798,P00846,Q9NRG9,Q53H12,P12235,P50897,O43681,P07602,O75503 20 |
| Personality changes 0.4967997094729683 0.8511263818861645 0.3946991517873823 1.0 1.0 15 P49768,P04062,O60220,P03886,P00403 5 |
| Breech presentation 0.5253032437322502 0.8508377819582983 0.394859470660821 1.0 1.0 8 O60313,O75718,Q9Y619,Q9UBM7 4 |
| Abnormality of the posterior pituitary 0.6178223498489811 0.8499435468200087 0.3953564732600414 1.0 1.0 4 Q9UHX1 1 |
| Areflexia of lower limbs 0.4787423569848755 0.8483623100029628 0.3962362259956933 1.0 1.0 18 Q9NR77,O60313,Q16637,Q9H6K4,P12235,Q15120,P07196,Q15067 8 |
| Distal arthrogryposis 0.6171567408469107 0.847231717476408 0.3968659778616148 1.0 1.0 4 Q96A33 1 |
| Flat face 0.4499371656040379 0.8459082057741462 0.3976039544789325 1.0 1.0 22 Q9Y487,Q15555,O75381,Q9Y5Y5,P40855 5 |
| Severe global developmental delay 0.3990486337032505 0.8440956836698412 0.3986159394986135 1.0 1.0 60 Q9HC21,Q9BV10,P00846,O75381,Q96A33,Q9H490,Q9Y5Y5,O15121,P40855,Q9BT22,P03886,Q9Y296,Q7LGA3,P56589 14 |
| Gingival bleeding 0.5135902833359963 0.8422403039741346 0.3996534580313235 1.0 1.0 11 Q6UN15,P04062,Q14108,P10644 4 |
| Abnormal ldl cholesterol concentration 0.5135638367665486 0.8421002067472803 0.3997318655588184 1.0 1.0 11 P37268,P50402,Q9Y6B6,Q9UJS0,Q15800,Q8N511,Q9BTV4 7 |
| Central sleep apnea 0.5283176876261948 0.841523418927678 0.4000547710061839 1.0 1.0 6 Q96A33,P53007 2 |
| Decreased circulating level of specific antibody 0.5259066277882812 0.8407710867122683 0.4004761877743736 1.0 1.0 7 Q9H0U3,Q9BV10 2 |
| Abnormal protein glycosylation 0.4946548718348179 0.8387823595241325 0.4015914515606855 1.0 1.0 15 P51571,Q9H0U3,Q8N511,Q9BT22 4 |
| Vertebral compression fracture 0.4993965452164354 0.8367261380953933 0.4027465234047875 1.0 1.0 14 Q96AY3,O75718,P04062,Q96HY6,Q32P28,Q14108 6 |
| Microdontia 0.4322311891494263 0.8360898627797856 0.4031043508331633 1.0 1.0 24 Q9Y487,Q15555,Q96A33,Q9UM00,Q6NUK1,Q9Y4P3,P07237,Q7LGA3,Q9Y619 9 |
| Hallucinations 0.367734921144574 0.8352215376813461 0.4035929852495523 1.0 1.0 41 P49768,Q9BQE5,Q8N5K1,P04062,O76024,O60313,P07602,P35637,P50897,P21964,O75503,Q9UJS0,O96008,Q9NZJ7,O43681 15 |
| Neck flexor weakness 0.6310972258682083 0.8345809560712607 0.4039536883291077 1.0 1.0 3 Q99720 1 |
| Abdominal distention 0.4762649162275932 0.8330862162480535 0.404796106754993 1.0 1.0 18 P04062,P07602,Q96HY6,Q9NZJ7,O43681 5 |
| Narrow mouth 0.3930128177802617 0.8315806313950755 0.4056456984391237 1.0 1.0 57 Q9Y487,P04062,Q15555,P16435,O75431,Q15392,P21964,Q6NUK1,O75844,Q9NVI7,Q7LGA3,Q8NCH0,Q9Y619 13 |
| Abnormality of the vertebral endplates 0.5366050846886181 0.8313552258604032 0.4057729849255667 1.0 1.0 5 P51798 1 |
| Abnormality of the mitochondrion 0.4462935702910979 0.8300869178538075 0.4064896430334401 1.0 1.0 93 Q9UMS0,P20674,Q9Y6M9,Q86Y39,O43772,Q9Y2R0,Q99757,O95298,Q70HW3,Q96CU9,O43676,P03886,P51970,Q15526,P35637,Q9Y584,P21912,Q3ZCQ8,Q9UBX3,Q4G0N4,O75880,P00846,O75306,Q9P0J0,P12235,Q9Y375,Q8IUX1,Q9NX14,P13073,Q7KZN9,O96000,P23786,Q9NPL8,O00483,P00403 35 |
| Intestinal pseudo obstruction 0.5236696956892845 0.8297669018543947 0.406670587523755 1.0 1.0 7 P03886 1 |
| Decreased circulating cortisol level 0.536092192634787 0.82895198373091 0.4071315781652083 1.0 1.0 5 P16435,Q13423 2 |
| Hypocalcemia 0.4924304055762495 0.8259871138002494 0.4088114017318607 1.0 1.0 15 P51798,Q9BV10,P21964 3 |
| Thoracic scoliosis 0.50643939226815 0.8254783783916708 0.4091000530405591 1.0 1.0 12 O75844 1 |
| Chronic infection 0.5171457380815563 0.8245684270313778 0.4096166525735634 1.0 1.0 9 Q6UN15,Q9H0U3,P51798 3 |
| Talipes calcaneovalgus 0.6110691126693787 0.822478175923099 0.4108048025799766 1.0 1.0 4 Q9UBM7,Q9NR77 2 |
| Astrocytosis 0.5212558051999009 0.8179024929852478 0.4134128667089518 1.0 1.0 7 P49768,P00846 2 |
| Abnormality of the coagulation cascade 0.3542383926803729 0.8171616417674302 0.4138360600385671 1.0 1.0 34 Q9Y487,Q9BV10,P51571,Q6UN15,P38435,Q5XKP0,Q9Y619 7 |
| Abnormality of the shoulder girdle musculature 0.4209885884454342 0.816903983171301 0.41398330134421 1.0 1.0 25 Q9Y487,Q9NZJ7,P07602,P50402,O60313,Q8NBL1,P12235,O75340,Q06210,P07196,Q9BTV4,O14979 12 |
| Abnormal middle phalanx morphology of the hand 0.5325785323414524 0.8125059537273827 0.4165013716852062 1.0 1.0 5 Q9UHX1 1 |
| Abnormal delivery 0.4594352833270859 0.8107836830693375 0.4174899064376776 1.0 1.0 20 O75718,Q9Y487,Q9UBM7,O75844,Q9Y619 5 |
| Abnormal sternal ossification 0.6076438786878439 0.8085912225256213 0.4187503152743013 1.0 1.0 4 O95202 1 |
| Gait ataxia 0.3996606025382686 0.8069894176217177 0.4196725800401113 1.0 1.0 63 Q9NR77,O14773,Q9UBB4,P03886,Q10713,Q15907,O43292,Q8IV08,Q9NZJ7,P07196,P00846,Q96CW1,P12235,Q13620,P41440,Q9NVI7,O15118,O43681,P07602,Q14108,Q9Y4W6 21 |
| Axial dystonia 0.6232489537357595 0.8028566243108769 0.4220576092861186 1.0 1.0 3 Q99720 1 |
| Limited extraocular movements 0.5152545375698001 0.8005631450416799 0.4233845939463363 1.0 1.0 8 Q3ZAQ7,O75306,Q15526,O43819 4 |
| Abnormal blood transition element cation concentration 0.5057079452734928 0.8005380428064973 0.4233991313503318 1.0 1.0 11 P28288,Q9Y487,Q6PGP7,O43819 4 |
| Flat occiput 0.4926057331669177 0.7985328791781382 0.4245613209105132 1.0 1.0 14 O75381,P40855,Q9Y5Y5 3 |
| Renal agenesis 0.3766910539069945 0.7975613215609874 0.4251251040202544 1.0 1.0 49 Q9UHX1,P16435,O75306,Q9UBM7,Q15392,Q86XL3,O43819,O43924,Q8TAA9,P10644,Q7LGA3 11 |
| Cerebellar vermis atrophy 0.511726046162462 0.7969852589060545 0.4254595925951987 1.0 1.0 9 Q9Y5Y5 1 |
| Hammertoe 0.4701453093912114 0.7953910364301339 0.4263860723977846 1.0 1.0 18 Q99720,Q9NR77,O95140,Q9UBM7,Q8TB36,O14656,Q96BR5,P07196 8 |
| Macrogyria 0.6043182782769025 0.7951381936815405 0.4265331195782487 1.0 1.0 4 Q15392 1 |
| Torsion dystonia 0.6038036931666262 0.7930592820094606 0.4277432845617446 1.0 1.0 4 O14656 1 |
| Abnormality of the pulmonary veins 0.5151711341851478 0.788048390030529 0.4306684016502302 1.0 1.0 7 Q15392 1 |
| Aplasia hypoplasia involving the skeletal musculature 0.5122989597716028 0.7858144543034091 0.4319761972434273 1.0 1.0 8 Q9Y487,Q9NR77 2 |
| Atrophy degeneration involving the corticospinal tracts 0.4902427174865631 0.7852630002468681 0.4322993844122194 1.0 1.0 14 O00400,Q9Y4P3,O75298,P00846 4 |
| Abnormality of the supraorbital ridges 0.4482163881588061 0.7836806162424031 0.4332275391393219 1.0 1.0 21 O75381,P16435,Q9Y5Y5,Q6NUK1,P40855,P56589 6 |
| Abnormality of the parathyroid gland 0.4678323952583482 0.78116138777288 0.4347075803380522 1.0 1.0 18 P03886,P00403,P21964 3 |
| Wide cranial sutures 0.5129929500113918 0.7773812760368608 0.4369338559902276 1.0 1.0 7 O75844 1 |
| Abnormal caudate nucleus morphology 0.4974035856314094 0.7767800455246707 0.4372885515606433 1.0 1.0 12 Q15526,O60220,P00846,O75306,O43819 5 |
| Abnormal atrioventricular valve physiology 0.363147389235952 0.7764689544120322 0.4374721446200609 1.0 1.0 42 Q15904,P53701,Q15526,P04062,O75306,O75431,Q6NUK1,P06280,Q9Y4P3,O43819,P10644,O75844,Q9NX14,Q96L58 14 |
| Abnormal autonomic nervous system physiology 0.3881508040068304 0.7764188912701524 0.4375016939512668 1.0 1.0 28 P04062,Q8N5K1,P07602,P42892,O76024,Q99757,P41440,P0DP25,P06280,Q9NZJ7,O43681 11 |
| Humeroradial synostosis 0.812166488794027 0.7740125475141504 0.4389233711878297 1.0 1.0 2 P16435 1 |
| Elbow ankylosis 0.812166488794027 0.7740125475141504 0.4389233711878297 1.0 1.0 2 P16435 1 |
| Spastic tetraparesis 0.4231149082669406 0.7701443680954361 0.4412142598055177 1.0 1.0 24 P17900,P07602,P00846,P21912,Q9NZJ7 5 |
| Erythema 0.4657255235736383 0.7682090281009362 0.4423630107374832 1.0 1.0 18 P53701,P51648,P03886,P00403,Q06136 5 |
| Brisk reflexes 0.4381870459092914 0.7656529408658544 0.4438828348811805 1.0 1.0 22 Q99720,Q8NI60,P20674,O15382,Q5JRX3,Q10713,O00483 7 |
| Crumpled long bones 0.8096762717894013 0.7651793571211728 0.4441647501224852 1.0 1.0 2 O75718 1 |
| Unilateral renal agenesis 0.4651160957507392 0.7644643057708175 0.4445905999558892 1.0 1.0 18 Q9UHX1,P16435,Q9UBM7,Q86XL3,Q7LGA3 5 |
| Eeg with polyspike wave complexes 0.5117163291338561 0.7614828515218124 0.4463687176618587 1.0 1.0 6 P53007,Q14108,Q96CW1 3 |
| Meningitis 0.5116852798072291 0.7613337535171852 0.4464577447944895 1.0 1.0 6 Q8TAA9 1 |
| Retinal arteriolar tortuosity 0.4981701672328025 0.760777470999623 0.4467899929379388 1.0 1.0 11 P00846,P21964 2 |
| Recurrent sinusitis 0.5214400138902318 0.7605992981518728 0.4468964391036942 1.0 1.0 5 Q9H0U3 1 |
| Aplasia hypoplasia involving the vertebral column 0.4858165969764989 0.7604405610416876 0.446991285889061 1.0 1.0 14 Q96HY6,Q8TAA9,P16278,Q14739 4 |
| Myoclonic spasms 0.5090497863643093 0.7581003184198231 0.4483909291057766 1.0 1.0 7 Q10713,P00846 2 |
| Iris coloboma 0.3760293191628738 0.7570446054433153 0.4490231394960817 1.0 1.0 29 P53701,Q9UHX1,Q9UBM7,O95202,Q10713,Q9NX14 6 |
| Toe walking 0.4506983486597884 0.7542781076050746 0.450682245108772 1.0 1.0 20 Q99720,P07602,P50402,P35637,P53007,Q9NZJ7,Q9BTV4,O43681 8 |
| Osteolysis involving bones of the feet 0.5940863528799669 0.7539485376665087 0.4508801237227113 1.0 1.0 4 O75844 1 |
| Foot acroosteolysis 0.5940863528799669 0.7539485376665087 0.4508801237227113 1.0 1.0 4 O75844 1 |
| Postaxial polydactyly 0.484002143842287 0.750278500234411 0.4530869885814967 1.0 1.0 14 Q14739,Q10713,Q96J42,O43924 4 |
| Progressive spasticity 0.4838170954837776 0.7492425931624043 0.4537110013990104 1.0 1.0 14 P17900,P07602,O15121,Q9NZJ7,O43681 5 |
| Abnormal posturing 0.8050515830665269 0.7488435934519218 0.453951481310491 1.0 1.0 2 O14656 1 |
| Bull s eye maculopathy 0.8036286019210294 0.7438356194976187 0.4569759281546222 1.0 1.0 2 Q8NHS3 1 |
| Abnormality of prothrombin 0.4911977506617604 0.7434404547631546 0.4572150594147071 1.0 1.0 12 Q9BV10,P38435,Q5XKP0,P49257,Q9UJS0 5 |
| Abnormal odontoid tissue morphology 0.3579905497947442 0.743169226191324 0.4573792322106467 1.0 1.0 41 P53701,Q96AY3,Q9UBM7,Q96JJ3,P21964,P48651,Q9Y4P3,P51648,P07237,Q9HC07,Q6P4Q7,Q9NX14,P16278,Q96L58 14 |
| Abnormal nasal mucosa morphology 0.5913252516848346 0.7428897365466878 0.4575484400001071 1.0 1.0 4 Q03518 1 |
| B cell lymphoma 0.5911244378164968 0.7420864251497852 0.4580349740024139 1.0 1.0 4 Q9H0U3 1 |
| Retrocollis 0.8029171113482794 0.7413349441103307 0.4584903790536936 1.0 1.0 2 Q99720 1 |
| Paresthesia 0.4188666303965482 0.7394639040853728 0.4596253503570118 1.0 1.0 24 Q9NR77,P05067,O95140,Q9H6K4,P49327,P54802,P06280,P07196 8 |
| Hyperconvex nail 0.5001124326724012 0.7381033731861757 0.460451634116966 1.0 1.0 9 Q9Y619,O95202,P42892 3 |
| Nonprogressive cerebellar ataxia 0.5898644097222465 0.7370490878125856 0.4610924984103546 1.0 1.0 4 Q96DA6,O75027 2 |
| Abnormality of the phalanges of the toes 0.4935686722785815 0.7365746451410438 0.4613810585648106 1.0 1.0 11 O75844,Q7LGA3 2 |
| Psychosis 0.4100676839484582 0.735536187163232 0.4620130096644264 1.0 1.0 25 P49768,O76024,Q9Y287,Q5JRX3,P10644,P03886,P00403,O15118 8 |
| Myoclonus 0.4198016220365912 0.7325574003037377 0.4638284213257739 1.0 1.0 82 O14773,Q99757,Q96CU9,O14656,P03886,Q10713,Q8NI60,Q9UBX3,O96008,Q9NZJ7,Q8NBU5,Q01105,Q9H936,Q13510,Q05086,P04062,P05067,P00846,Q96CW1,O96007,P50897,O14653,P13073,P49768,Q9H078,P07602,Q9H2C2,Q9UQN3,Q14108,Q9NPL8,O75503,Q9Y4W6,P27544,O00483,P00403 35 |
| Abnormal visual fixation 0.5151825313276863 0.7316129894826066 0.4644048176731656 1.0 1.0 5 P04062 1 |
| Abnormality of the ribs 0.3821455906227091 0.7309568544953976 0.4648055069921541 1.0 1.0 57 O75718,P16435,Q14739,P48651,O14656,P07237,P16278,Q9Y619,Q9UHX1,Q9UM00,O95202,P51798,Q9BV10,O75431,Q8TAA9,O75844,Q96HY6,Q32P28,P54802,Q9UBM7 20 |
| Abnormal heart sound 0.514894445451086 0.7302818549243 0.4652179171460147 1.0 1.0 5 P10644 1 |
| Epistaxis 0.4846452588020902 0.729642972187345 0.4656084480103328 1.0 1.0 13 Q6UN15,P38435,P04062 3 |
| Middle age onset 0.4953265681057185 0.7286472916922893 0.4662174422045246 1.0 1.0 10 P07602 1 |
| Hypertrophic cardiomyopathy 0.4486975910771649 0.7286043511322507 0.466243716147541 1.0 1.0 103 P13473,O60313,Q9Y6M9,Q86Y39,Q96CU9,O43819,O43676,P03886,P16278,P53701,Q15526,P21912,Q9H061,P10253,P00846,P50402,O75306,Q53H12,Q9P0J0,P12235,P06280,Q5XKP0,Q8IUX1,Q9NVI7,Q9NX14,Q7KZN9,O96000,P54802,Q9NPL8,Q96IX5,Q9Y4P3,Q13423,P00403,Q99797 34 |
| Lower limb hypertonia 0.4950869690121915 0.7274142169295366 0.4669722479037674 1.0 1.0 10 Q14739,P21912 2 |
| Increased circulating antibody level 0.4950267594588623 0.7271043811556039 0.4671620150922473 1.0 1.0 10 P04062,Q14108 2 |
| Shoulder girdle muscle weakness 0.4975324087127767 0.7250716619059254 0.4684080682560008 1.0 1.0 9 Q9NZJ7,P07602 2 |
| Toxemia of pregnancy 0.5033981394582727 0.7216359655802255 0.4705183208708021 1.0 1.0 6 Q14739 1 |
| Abnormal aortic valve morphology 0.3491477123929471 0.7213924340745714 0.4706681002785575 1.0 1.0 37 P04062,Q9UHX1,P21964,Q6NUK1,Q6PGP7,Q9Y4P3,O75844 7 |
| Abnormal circulating bilirubin concentration 0.4162562318781472 0.7206340554930156 0.4711346951159405 1.0 1.0 24 P11166,P23786,Q14739,P40855,Q9UGP8,O75648,Q9UJS0,P28288,P41440 9 |
| Cerebral inclusion bodies 0.4781719531561365 0.7176867846512444 0.4729504335241785 1.0 1.0 14 P49768,P04062,Q9Y287,O96008,O15118 5 |
| Focal segmental glomerulosclerosis 0.4448855595476291 0.716782637707445 0.4735082264043506 1.0 1.0 20 Q14108,Q96D53,P03886,O95470,P00403 5 |
| Atlantoaxial dislocation 0.795802205620782 0.7164527684898301 0.4737118217541649 1.0 1.0 2 Q8NCH0 1 |
| Flaring of rib cage 0.795802205620781 0.7164527684898246 0.4737118217541682 1.0 1.0 2 P16278 1 |
| Cholecystitis 0.4980263350847863 0.7149040120424541 0.4746683577445552 1.0 1.0 8 Q9NZJ7,P07602 2 |
| Abnormal cerebral artery morphology 0.4775178306451482 0.714036411617501 0.4752046643694951 1.0 1.0 14 P10253,P38435,P10644 3 |
| Spondyloepimetaphyseal dysplasia 0.5112619034261293 0.7135241451602523 0.4755214775971605 1.0 1.0 5 Q96HY6 1 |
| Abnormal iris pigmentation 0.4443033243294061 0.7130322347037477 0.4758258105845625 1.0 1.0 20 O75381,Q9Y5Y5,P40855,Q9Y4P3,P56589 5 |
| Abnormal circulating pyruvate family amino acid concentration 0.4375342624244693 0.7128688062350182 0.4759269434163489 1.0 1.0 21 P00846,Q9P0J0,P22695,Q5XKP0,Q8IUX1,P03886,Q99797 7 |
| Abnormality of macular pigmentation 0.5834615011277029 0.711537850132806 0.4767510044996976 1.0 1.0 4 Q8NHS3 1 |
| Cerebral amyloid angiopathy 0.7936677339025321 0.7090335030008743 0.4783036864423531 1.0 1.0 2 Q9Y287 1 |
| Alzheimer disease 0.7936677339025286 0.7090335030008629 0.4783036864423602 1.0 1.0 2 P49768 1 |
| Abnormal blood inorganic cation concentration 0.3461616727282463 0.7086515460216664 0.4785407403952173 1.0 1.0 36 P51798,Q9BV10,P21912,P05023,P21964,Q9Y4P3 6 |
| Left ventricular systolic dysfunction 0.5097780998511217 0.7066938076066898 0.4797567785933538 1.0 1.0 5 O75844 1 |
| Decreased circulating aldosterone level 0.7926004980434053 0.7053319466676896 0.480603683907022 1.0 1.0 2 Q13423 1 |
| Abnormality of the vasculature of the eye 0.3976155751812145 0.70478028997125 0.4809469762863909 1.0 1.0 69 P17900,P07602,Q15555,P00846,O75306,P21912,P21964,Q14739,P38435,Q9Y4P3,P03886,P16278,Q9NZJ7,Q13510,P10619 15 |
| Abnormality of neutrophil morphology 0.5084627877611712 0.7006465058280263 0.4835236478438873 1.0 1.0 5 Q14739 1 |
| Decreased specific anti polysaccharide antibody level 0.7911775168979062 0.7004050176915442 0.4836744035704843 1.0 1.0 2 Q9H0U3 1 |
| Fibroadenoma of the breast 0.7911775168979039 0.700405017691536 0.4836744035704894 1.0 1.0 2 P10644 1 |
| Accessory spleen 0.4971484248312411 0.7001729310387976 0.4838193141888882 1.0 1.0 7 O95202 1 |
| Acquired abnormal hair pattern 0.5801452025597007 0.6983841225663341 0.4849370031104725 1.0 1.0 4 O75844,Q96CW1 2 |
| Abnormal renal tubule morphology 0.4048111253633477 0.6964698952143913 0.4861346041501073 1.0 1.0 25 Q15526,P00846,O75306,P23786,P06280,Q9Y4P3,O43819,P03886 8 |
| Vertebral wedging 0.59633378781572 0.6959099944710072 0.4864851978297402 1.0 1.0 3 Q96AY3 1 |
| Azoospermia 0.4961377168124833 0.6952743569409323 0.4868833813004793 1.0 1.0 7 P04062,Q13423 2 |
| Spastic gait 0.4478589265458392 0.6952535567009617 0.4868964142038225 1.0 1.0 19 O00400,Q9NVI7,Q9Y619 3 |
| Delayed menarche 0.49718620032968 0.6920191459285048 0.4889253055260589 1.0 1.0 6 O75844,Q9UJS0 2 |
| Abnormal urine cytology 0.3426069440464888 0.69051325441396 0.4898714776375485 1.0 1.0 35 P04062,P21912,Q14108,P09601,Q6UN15,P06280,P10644 7 |
| Macroglossia 0.3375780581284709 0.6898622603165374 0.4902808108984666 1.0 1.0 32 Q96A33,P21912,Q9Y4P3,P16278,Q10713,Q7LGA3 6 |
| Proximal muscle weakness 0.3726854349822373 0.6866578041315498 0.4922983931413918 1.0 1.0 54 P13473,O60313,Q16637,Q3ZAQ7,Q9BTV4,Q8NI60,Q8NBL1,P35637,P21912,P53007,P07196,Q13510,Q99720,Q13126,P10253,P00846,P50402,P12235,Q9BQT8,Q5T8D3,Q9BPX6 21 |
| Aplasia hypoplasia of toe 0.3677454490749803 0.6865798990809614 0.4923474989195133 1.0 1.0 29 Q9UHX1,Q9UBM7,Q7LGA3,O95202,Q9Y296,Q13510,P13073 7 |
| Coarse hair 0.4522377227429414 0.685566898779385 0.4929862610116768 1.0 1.0 18 Q96A33,P54802,Q6NUK1 3 |
| Hyperactive deep tendon reflexes 0.4864172916543835 0.6829208686771283 0.4946568463853107 1.0 1.0 10 Q9NR77 1 |
| Type i transferrin isoform profile 0.4913578282302085 0.6819859659135863 0.4952478249943182 1.0 1.0 8 Q9H0U3,Q9BT22 2 |
| Moderately reduced visual acuity 0.5927276226928728 0.681833388977503 0.4953443089961502 1.0 1.0 3 O60313 1 |
| Avascular necrosis 0.4387567732030913 0.6773608239994334 0.4981770481711314 1.0 1.0 20 O75844,P04062,Q14108,Q9Y619 4 |
| Morphological abnormality of the corticospinal tract 0.4614617328370746 0.67645273335849 0.4987532462184072 1.0 1.0 16 O00400,O75298,P00846 3 |
| Abnormal macular morphology 0.3848078913114356 0.6746202333396796 0.4999170746770676 1.0 1.0 27 P51648,P04062,Q8NHS3,P50897 4 |
| Unusual infection by anatomical site 0.4816278636259541 0.6740706148426011 0.5002664204415277 1.0 1.0 11 Q14739 1 |
| Abnormality of metacarpal epiphyses 0.5013927095722219 0.6682671943708897 0.5039630501212473 1.0 1.0 5 O95202 1 |
| Orthostatic hypotension 0.4731450601525088 0.6669572741283971 0.504799425132715 1.0 1.0 13 Q9NZJ7,P04062,P07602 3 |
| Eyelid myoclonus 0.4882133600902231 0.666519414757669 0.5050791583686882 1.0 1.0 8 Q01105 1 |
| Fatigable weakness of swallowing muscles 0.4725964732447008 0.6639788873305189 0.5067038239344557 1.0 1.0 13 Q15165,Q92804,P35637,O95292 4 |
| Intestinal malrotation 0.3832596858363361 0.662375632320214 0.5077305164572268 1.0 1.0 27 Q9BV10,Q15392,P21964,Q14739,O95202,Q8NCH0 6 |
| Abnormality of lipoprotein cholesterol concentration 0.4760069231102294 0.6623175319360141 0.5077677432756325 1.0 1.0 12 P50402,Q9UJS0,Q15800,Q8N511,Q9BTV4 5 |
| Ineffective esophageal peristalsis 0.5708459491299923 0.661734255266849 0.5081415471024029 1.0 1.0 4 P06280 1 |
| Anomic aphasia 0.7797936677339057 0.6613514837415922 0.5083869318632734 1.0 1.0 2 P49768 1 |
| Visual agnosia 0.7797936677339057 0.6613514837415922 0.5083869318632734 1.0 1.0 2 P49768 1 |
| Abnormality of the autonomic nervous system 0.3524463185041239 0.6605024403261301 0.5089314529824827 1.0 1.0 43 Q9NZJ7,O15269,P04062,P07602,P42892,O76024,Q9UBM7,Q99757,P0DP25,P21964,P06280,Q10713,O43681 13 |
| Abnormal thyroid stimulating hormone level 0.779082177161156 0.6589327594720266 0.5099389481865753 1.0 1.0 2 P10644 1 |
| Ovoid vertebral bodies 0.4885975731555083 0.6588476873892543 0.5099935812585743 1.0 1.0 7 P16278 1 |
| Red green dyschromatopsia 0.5861532456813929 0.6563457728164741 0.5116016727028858 1.0 1.0 3 Q9H6K4 1 |
| Anarthria 0.4896387533125169 0.6562217367409732 0.5116814649956867 1.0 1.0 6 Q99720 1 |
| Glomerular sclerosis 0.3543814692416038 0.6553283802973096 0.5122563521792158 1.0 1.0 30 P21912,Q14108,Q96D53,P03886,O95470,P00403 6 |
| Abnormal cranial nerve morphology 0.3660743917206283 0.6543759834223267 0.5128696034584515 1.0 1.0 52 Q02978,P51798,Q9UHX1,O75381,P21912,P12235,Q9Y5Y5,P08247,P48651,P40855,P53007,O43819,P10644,Q13510,P56589 15 |
| Oral pharyngeal dysphagia 0.4834312929754226 0.6542394984911691 0.5129575178529353 1.0 1.0 9 Q01105 1 |
| Spinal deformities 0.7776591960156563 0.6541033902635537 0.5130451974184773 1.0 1.0 2 P53007 1 |
| Basal ganglia gliosis 0.4807266562400316 0.6538627713148273 0.5132002208485991 1.0 1.0 10 O75306,O43819,P00846 3 |
| Mesomelia 0.4884535449130677 0.6506207178789004 0.5152913530753758 1.0 1.0 6 Q14739 1 |
| Easy fatigability 0.4463774772718158 0.6498497244861161 0.5157892960269956 1.0 1.0 18 Q15526,Q9NWM8,P21912,Q53H12,P12235,P53007,Q06210,Q8IUX1,P10644 9 |
| Hypercholesterolemia 0.4765791499713574 0.6477981610979985 0.517115504928924 1.0 1.0 11 P57740,O75431,Q9UJS0,Q8N511 4 |
| Abnormal morphology of the musculature of the neck 0.4645972100255976 0.6422406391821366 0.5207169500696973 1.0 1.0 14 Q99720,O14656,P35637 3 |
| Abnormal renal pelvis morphology 0.3552417353963245 0.6417484872535641 0.5210365012975582 1.0 1.0 46 O75718,O76024,O75381,P16435,Q9UBM7,P23786,Q9Y5Y5,P40855,Q8NCH0,P56589 10 |
| Congenital sensorineural hearing impairment 0.5656577268795846 0.6414482488934602 0.521231493799267 1.0 1.0 4 O76024 1 |
| Peripheral axonal degeneration 0.3799987686377737 0.6403535930844647 0.5219427458621702 1.0 1.0 62 O60313,Q99757,P03886,Q15067,Q15526,Q8IV08,Q9NZJ7,P07196,O15269,P00846,O76024,Q9NRG9,P12235,Q13057,P41440,Q9NVI7,P07602,Q9HC21,Q9Y4W6,Q8TB36,Q9BQT8,Q96BR5,Q9BPX6,P00403 24 |
| Abnormality of the metacarpal bones 0.3340286450186308 0.6402574013138592 0.5220052702628624 1.0 1.0 33 P51798,P16435,Q9UBM7,Q14739,Q6NUK1,O43924,O95202,P16278 8 |
| Premature birth 0.3485529733888075 0.6390440043355543 0.5227943056934539 1.0 1.0 42 P04062,P51798,Q9BV10,O75381,Q9Y5Y5,P40855,O43676,O75844,Q9NX14,P56589 10 |
| Retinal degeneration 0.3720775600803416 0.6379841962781222 0.5234839676671124 1.0 1.0 57 Q9UG56,O14773,P04062,Q9H2C2,O60313,P50897,O75503,Q7LGA3,P51648,Q10713,Q9Y296,Q13510 12 |
| Hypochromic microcytic anemia 0.5812038170557604 0.6373152749746651 0.5239195032347337 1.0 1.0 3 Q96DA6 1 |
| Arrhinencephaly 0.4798525118835133 0.6363842848216218 0.5245259812658181 1.0 1.0 9 P21964 1 |
| Increased ldl cholesterol concentration 0.483433953568489 0.6340329791793865 0.5260592996620193 1.0 1.0 7 Q9UJS0,Q8N511,P50402 3 |
| Hyperlipoproteinemia 0.483433953568489 0.6340329791793865 0.5260592996620193 1.0 1.0 7 Q9UJS0,Q8N511,P50402 3 |
| Sensory neuropathy 0.3880148390632255 0.6325977045309261 0.5269963864838993 1.0 1.0 26 O15269,O60220,P00846,O60313,Q8IV08,P03886,Q15067,P00403 8 |
| Ankle clonus 0.4622014705502495 0.6290017929525902 0.5293478824075006 1.0 1.0 14 Q9NZJ7,P07602 2 |
| Advanced ossification of carpal bones 0.7691213091426576 0.6253595157246432 0.5317351265532542 1.0 1.0 2 Q96L58 1 |
| Phalangeal dislocation 0.7691213091426576 0.6253595157246432 0.5317351265532542 1.0 1.0 2 Q96L58 1 |
| Prolonged partial thromboplastin time 0.4825473106217576 0.6227992436145673 0.5334164554494674 1.0 1.0 6 P28288,P38435,Q9BV10 3 |
| Petechiae 0.4770892745921299 0.6226363629612027 0.5335235099076634 1.0 1.0 9 Q6UN15,P04062,P51798 3 |
| Steppage gait 0.4521272897238523 0.622360705320117 0.5337047125720842 1.0 1.0 16 Q9NR77,O15269,P05023,Q15120,Q8TB36,O43819,Q96BR5,P07196 8 |
| Parkinsonism 0.3780724416496551 0.621426910197121 0.5343187707836621 1.0 1.0 27 Q99720,P49768,P04062,P05067,P07602,P35637,Q9UQN3,Q13057,O96008,Q9NZJ7 10 |
| Slender long bone 0.4681721270800834 0.6208188993314747 0.5347187867889065 1.0 1.0 12 Q9Y487,Q32P28,Q9H490,Q96J02,Q9Y619,Q96L58 6 |
| Cupped ear 0.47390613461658 0.6192122908870732 0.5357765159538228 1.0 1.0 10 Q15392 1 |
| Arm dystonia 0.5597487425516232 0.618496805676264 0.5362479028004294 1.0 1.0 4 Q99720 1 |
| Narrow nasal ridge 0.4799344630443432 0.6172822222569901 0.5370485907665832 1.0 1.0 7 O75844 1 |
| Inappropriate crying 0.4788689071430285 0.6121931208585386 0.5404099924210382 1.0 1.0 7 P07602 1 |
| Hypokinesia 0.471901262758047 0.6090672372514174 0.5424798727256452 1.0 1.0 10 P04062 1 |
| Malabsorption 0.3579923614655472 0.608503950310118 0.5428532867737643 1.0 1.0 50 Q8N5K1,O76024,O75381,Q96A33,P49327,Q9Y5Y5,P09601,Q14739,P06280,P40855,Q9Y4P3,P14174,P56589 13 |
| Abnormality of visual evoked potentials 0.4147278037055515 0.606520623512022 0.5441690917010618 1.0 1.0 22 O60220,P51798,O43681,O60313,Q9NRG9,O95140,P07602,O75503,Q9NZJ7,Q15067,Q8N766 11 |
| Delayed puberty 0.351379807349337 0.6057124497069355 0.544705715421917 1.0 1.0 46 Q8N5K1,P04062,O76024,P16435,P57740,Q14108,P51809,P06280,Q9UJS0,Q15800,O75844,Q9NVI7 12 |
| Color vision defect 0.4613628718473234 0.6032732887647568 0.5463268994755524 1.0 1.0 13 O60220,O60313,O95140,Q9H6K4,Q13432,Q9Y4W6,Q9H061,O00429,Q6P4Q7 9 |
| Abnormality of the wrist 0.3997528608620515 0.6021545008457356 0.5470712989045943 1.0 1.0 24 P16435,Q9H6K4,P16278,O75844,Q13510 5 |
| Hyperreflexia in upper limbs 0.4746256666358881 0.6001632020657007 0.5483974749386329 1.0 1.0 8 P21912 1 |
| Chordee 0.4762178781868755 0.5995556703845794 0.5488023980860941 1.0 1.0 7 P16435,P53701,Q9NX14 3 |
| Abnormal thoracic spine morphology 0.3915469193636265 0.5983600466079496 0.5495997185359158 1.0 1.0 25 O75844,P51648,P04062 3 |
| Abnormal dentin morphology 0.485431103003423 0.5960564397511336 0.5511375230445081 1.0 1.0 5 Q96AY3,Q96L58 2 |
| Submucous cleft of soft and hard palate 0.4192854018163617 0.5928036053801232 0.5533125946081614 1.0 1.0 21 Q7LGA3,O75844,Q15392 3 |
| Micromelia 0.4310410627088489 0.590434546437816 0.5548993554555353 1.0 1.0 19 Q9UHX1,Q96HY6,Q9UBM7,Q15392,Q14739,P10644 6 |
| Hemianopia 0.4754263512117605 0.5894719340096959 0.5555447340270088 1.0 1.0 6 P03886 1 |
| Impaired antigen specific response 0.472369141742346 0.5892274355414382 0.5557087151248896 1.0 1.0 8 Q9H0U3,Q9BV10 2 |
| Tinnitus 0.4644774179263139 0.5852831111105686 0.5583573689949024 1.0 1.0 11 Q9NR77 1 |
| Abnormality of the cerebrospinal fluid 0.460997908234208 0.5852629790832459 0.5583709035807609 1.0 1.0 125 Q9NR77,Q9Y6M9,P16435,Q86Y39,Q9H490,Q99757,O43505,Q96CU9,O43819,O43676,P03886,Q10713,Q96J42,P53701,Q8NI60,Q6NUK1,O95202,Q9NZJ7,P04062,P51798,P00846,O75306,Q9P0J0,P40855,Q8TAA9,Q8IUX1,Q9NX14,P13073,O43681,Q7KZN9,O96000,P07602,Q9HC21,Q9UBM7,Q15392,P23786,Q9NPL8,P21964,P10644,P00403 40 |
| Thyroid adenoma 0.5670418721645656 0.5836776753749627 0.5594371898124595 1.0 1.0 3 P10644 1 |
| Incoordination 0.373739621897687 0.5830958707346026 0.5598287633356358 1.0 1.0 62 Q9NR77,O14773,Q9NZJ7,P04062,P00846,P07602,P21912,O75503,O43819,Q10713,Q01105,Q13510,Q9Y619,O43681 14 |
| Dolichocephaly 0.4109759076911026 0.5812920115338687 0.5610436636594383 1.0 1.0 22 O75381,O95202,P40855,Q9Y5Y5 4 |
| Bilateral cryptorchidism 0.4635420542095955 0.580481569119251 0.5615899122614056 1.0 1.0 11 P48449,Q96DA6,O43924,P37268 4 |
| Microglossia 0.5496699608138133 0.5797559876611077 0.562079181573782 1.0 1.0 4 Q9UBM7 1 |
| Decreased number of large peripheral myelinated nerve fibers 0.4812586810551488 0.5774125400007697 0.5636608050310488 1.0 1.0 5 P07196,O15269 2 |
| Osteopenia 0.3788469199595853 0.5747365325962561 0.5654694961076725 1.0 1.0 66 O75718,P57740,Q9H490,P57678,P07237,Q9Y487,O43292,Q9NWM8,Q9NVV0,Q9NZJ7,Q13126,P04062,O75431,O75844,Q96AY3,P07602,Q32P28,Q14108,Q9Y4P3,P10644 20 |
| Abnormality of the adrenal glands 0.3510409730545484 0.5731853500774586 0.5665192025585069 1.0 1.0 48 O95470,O75381,P16435,P21912,Q9Y5Y5,P40855,Q13423,O75844,P56589 9 |
| Smooth muscle antibody positivity 0.7527570259694103 0.5714542219187647 0.5676917830934443 1.0 1.0 2 P49327 1 |
| Absent septum pellucidum 0.3715433190992658 0.5700881683692841 0.5686178995199964 1.0 1.0 27 Q9NZ01,P53701,Q96N66,Q15392,P51571,O95202,Q9NX14 7 |
| Proximal upper limb amyotrophy 0.5469533819311381 0.569407952657113 0.5690793211297156 1.0 1.0 4 Q9BTV4,P50402 2 |
| Abnormality of the musculature of the upper arm 0.5469533819311381 0.569407952657113 0.5690793211297156 1.0 1.0 4 Q9BTV4,P50402 2 |
| Redundant neck skin 0.4696746156184707 0.5685183071048976 0.5696830783904372 1.0 1.0 7 Q9Y487 1 |
| Amyloidosis 0.5629506991922167 0.5684248766014768 0.5697465026577087 1.0 1.0 3 Q9Y287 1 |
| Increased hepatocellular lipid droplets 0.5626475404193589 0.5672992116656806 0.57051091255118 1.0 1.0 3 Q15526 1 |
| Biparietal narrowing 0.4675068690259318 0.5657550006585808 0.5715603404986509 1.0 1.0 8 Q10713,O43924 2 |
| Congenital contracture 0.3325396346850549 0.5643556072192626 0.5725121443810133 1.0 1.0 37 Q96A33,O75844,P04062,Q8NCH0 4 |
| Abnormal nerve conduction velocity 0.3340624623702605 0.5634765052347318 0.5731104543009544 1.0 1.0 38 Q99720,Q9NR77,O15269,P07602,Q15120,O15121,Q9UBB4,Q9NZJ7,Q9Y619,O43681 10 |
| Abnormality of peripheral nerves 0.3340624623702605 0.5634765052347318 0.5731104543009544 1.0 1.0 38 Q99720,Q9NR77,O15269,P07602,Q15120,O15121,Q9UBB4,Q9NZJ7,Q9Y619,O43681 10 |
| Vocal cord paralysis 0.4414748326069833 0.5611416503067803 0.5747009766797406 1.0 1.0 16 Q02978,Q9NR77,P50402,P21912,Q8TB36,Q9BTV4 6 |
| Abnormality of coagulation 0.3543215897808065 0.5600693849001718 0.5754321117615393 1.0 1.0 51 P56589,Q9Y487,Q9BV10,O75381,Q9Y5Y5,P51571,Q6UN15,P38435,Q5XKP0,P40855,Q9Y619 11 |
| Secondary microcephaly 0.3692286847175322 0.5557683558067077 0.5783692205778124 1.0 1.0 61 Q9Y487,Q9BX67,Q9UHX1,Q9BV10,Q86Y39,P50897,O15121,Q96CU9,Q5XKP0,Q9BT22,Q9HC07,Q5T8D3 12 |
| Abnormal thalamic size 0.7474208466737862 0.5542383677556934 0.5794157235883297 1.0 1.0 2 Q9UPT5 1 |
| Frontal balding 0.7474208466737862 0.5542383677556934 0.5794157235883297 1.0 1.0 2 Q96CW1 1 |
| Eeg with focal spike waves 0.7474208466737862 0.5542383677556934 0.5794157235883297 1.0 1.0 2 Q96CW1 1 |
| Generalized myoclonic atonic seizure 0.7474208466737862 0.5542383677556934 0.5794157235883297 1.0 1.0 2 Q96CW1 1 |
| Hypopigmentation of the skin 0.3392667013718948 0.552098731153367 0.5808807112136263 1.0 1.0 42 P53701,P51798,P07602,Q8NBL1,P21912,P21964,Q9NZJ7,Q9NX14 8 |
| Abnormal morphology of the conjunctival vasculature 0.4656176020544217 0.5493927163935823 0.582735971482462 1.0 1.0 7 P10619 1 |
| Single fiber emg abnormality 0.7449306296691616 0.5462686014795954 0.5848813160195796 1.0 1.0 2 Q06210 1 |
| Muscle fiber tubular inclusions 0.7449306296691616 0.5462686014795954 0.5848813160195796 1.0 1.0 2 Q06210 1 |
| Response to drugs acting on neuromuscular transmission 0.7449306296691616 0.5462686014795954 0.5848813160195796 1.0 1.0 2 Q06210 1 |
| Emg decremental response of compound muscle action potential to repetitive nerve stimulation 0.7449306296691616 0.5462686014795954 0.5848813160195796 1.0 1.0 2 Q06210 1 |
| Splenomegaly 0.3888911042718302 0.5454098292297503 0.5854716817069769 1.0 1.0 75 Q9NZJ7,P04062,P51798,P07602,Q96A33,Q9H0U3,P54802,Q15392,Q14108,P21964,Q14739,Q9BT22,P16278,Q10713,Q13510,O15118 16 |
| Supernumerary spleens 0.4614096821397466 0.5453504968372794 0.585512480165133 1.0 1.0 9 O95202 1 |
| Insulin resistant diabetes mellitus 0.4734092945663686 0.5426352510379212 0.5873809630138807 1.0 1.0 5 O75844 1 |
| Abnormal lung development 0.338244338301476 0.5425634587731616 0.5874304039305651 1.0 1.0 42 O96000,Q9UHX1,P21964,Q14739,Q6NUK1,Q8TAA9,O95202,O75844 8 |
| Hyperorality 0.4730145273621184 0.5408970115341574 0.5885785708646178 1.0 1.0 5 P49768,Q9UQN3 2 |
| Disproportionate tall stature 0.375904245862339 0.5406108487392058 0.5887758386456787 1.0 1.0 26 P16435,O95202,Q9Y296,Q7LGA3,Q8NCH0 5 |
| Cranial nerve compression 0.4582410950141602 0.5405045169645826 0.5888491467743062 1.0 1.0 10 P21912,P51798 2 |
| Distal amyotrophy 0.35057276098532 0.5398738133709085 0.589284058238638 1.0 1.0 50 Q99720,Q9NR77,O15269,P35637,P21912,Q15120,Q13057,Q9Y4W6,Q8TB36,Q13620,P53007,Q9BQT8,P07196,Q9NVI7,Q13510 15 |
| Perseveration 0.4635086533718431 0.5394889630369067 0.589549510537291 1.0 1.0 7 P35637,P49768,Q9UQN3,Q15233 4 |
| Frontotemporal dementia 0.4524930686706702 0.5386848125411641 0.5901043549446663 1.0 1.0 12 P35637,P49768,P05067,O96008 4 |
| Temporal optic disc pallor 0.7413731768054121 0.5349559793750264 0.5926802975483938 1.0 1.0 2 O60313 1 |
| Morning glory anomaly 0.7413731768054121 0.5349559793750264 0.5926802975483938 1.0 1.0 2 O60313 1 |
| Paraplegia paraparesis 0.3845971089987928 0.5330581397589009 0.5939933347987647 1.0 1.0 73 P56589,Q7KZN9,P04062,P00846,O60313,Q9H6K4,P21912,O75306,Q9P0J0,Q9Y5Y5,O00400,Q96CU9,Q5XKP0,O75298,Q13510,Q9Y619 16 |
| Ventricular escape rhythm 0.5530580867723092 0.5320325517501312 0.5947034503730679 1.0 1.0 3 P50402 1 |
| Abnormal muscle fiber protein expression 0.5530580867723092 0.5320325517501312 0.5947034503730679 1.0 1.0 3 P50402 1 |
| Metaphyseal widening 0.4440628354170821 0.5297228291850418 0.5963041172527781 1.0 1.0 14 Q96HY6,Q14739,P48651,P16278,Q96L58 5 |
| Aplasia hypoplasia affecting the anterior segment of the eye 0.4030320336471835 0.5281602488233372 0.5973881168495523 1.0 1.0 22 Q96J42,Q7LGA3,O95202 3 |
| Atelectasis 0.4555975924175984 0.5273617959235046 0.5979423684632166 1.0 1.0 10 P21964 1 |
| Retinal hamartoma 0.461396299033945 0.5246089959348623 0.5998550317694886 1.0 1.0 6 P21912 1 |
| Hemangioblastoma 0.4613962990339448 0.5246089959348613 0.5998550317694893 1.0 1.0 6 P21912 1 |
| Arachnoid hemangiomatosis 0.4613962990339448 0.5246089959348613 0.5998550317694893 1.0 1.0 6 P21912 1 |
| Pseudobulbar paralysis 0.4600855310049827 0.5234722544021996 0.6006456541540452 1.0 1.0 7 P54136,Q15233,P20700,O94979,P54886,P08397 6 |
| Abnormality of hand joint mobility 0.5506096476635931 0.5231376597467322 0.6008784599053438 1.0 1.0 3 P48651 1 |
| Hyperextensibility of the finger joints 0.5506096476635931 0.5231376597467322 0.6008784599053438 1.0 1.0 3 P48651 1 |
| Adducted thumb 0.3811158958319693 0.5218895407913928 0.6017472410360127 1.0 1.0 25 P42892,P57740,O14656,Q86XL3,Q9Y4P3,Q9NXE4,Q8NBU5,Q8NCH0,Q96L58 9 |
| Abnormal femoral neck morphology 0.3213979122586808 0.5205830470938956 0.6026572616204215 1.0 1.0 33 Q9Y487,Q96A33,Q96HY6,O75431,P16278,O75844,Q9Y619 7 |
| Abnormal tongue morphology 0.365301037501452 0.5200163240213925 0.6030521975437553 1.0 1.0 61 O75844,Q96A33,Q9UBM7,P21912,O75431,Q9Y5Y5,Q6NUK1,O43924,P16278,Q10713,Q96J42,Q7LGA3 12 |
| Abnormal elasticity of skin 0.3622462534300064 0.5198120140421344 0.6031946048949546 1.0 1.0 59 Q13126,Q9Y487,O96000,P04062,Q9UHX1,Q15555,Q9BV10,Q6NUK1,P38435,Q9Y4P3,P10644,O75844,Q9NX14,Q8NCH0 14 |
| Kinetic tremor 0.3388980452129139 0.5197154916387531 0.6032618878279432 1.0 1.0 30 P07602,O75027,Q9Y287,P41440,Q14108,Q9NZJ7,O43681 7 |
| Bilateral single transverse palmar creases 0.438264229882119 0.5190644734493302 0.6037157816234331 1.0 1.0 15 O75381,P40855,Q9Y5Y5 3 |
| Tetraplegia 0.4483614745691773 0.5172824598467718 0.6049589964691897 1.0 1.0 12 P51970,P51572,Q13423,O43681 4 |
| Convex nasal ridge 0.4185392693239261 0.5134936426695668 0.6076060566708732 1.0 1.0 19 O75844,O95202 2 |
| Weakness of facial musculature 0.349197064666986 0.5128858299936531 0.6080311860393179 1.0 1.0 51 Q15526,P51798,Q9UHX1,O75381,O60313,P12235,Q9Y5Y5,P08247,P48651,P40855,P53007,O43819,Q9BQT8,P07196,Q13510,P56589 16 |
| Atrophic scars 0.4588165012496287 0.5128123724627225 0.6080825742599507 1.0 1.0 6 Q8NCH0,Q9NWM8 2 |
| Head titubation 0.4586992978912619 0.5122774772046997 0.6084568259117484 1.0 1.0 6 Q99720 1 |
| Arthrogryposis multiplex congenita 0.3186901887269324 0.5104165721359056 0.609759649130529 1.0 1.0 32 O75844,P04062,Q8NCH0 3 |
| Abnormal circulating proline concentration 0.531219567675761 0.510341891512324 0.6098119590404696 1.0 1.0 4 O95298,O96000 2 |
| Aplasia hypoplasia involving the carpal bones 0.5469750889679676 0.5100197559007025 0.6100376212016247 1.0 1.0 3 Q9NR45,Q9Y5S9 2 |
| Carpal bone hypoplasia 0.5469750889679676 0.5100197559007025 0.6100376212016247 1.0 1.0 3 Q9NR45,Q9Y5S9 2 |
| Tremor by anatomical site 0.3794739890521231 0.5099240669125029 0.6101046603127935 1.0 1.0 25 Q99720,Q9NR77,O95140,P35637,Q16637,Q15120,Q9Y4W6,O14656,P07196 9 |
| Exaggerated startle response 0.456661229803746 0.5075257291539546 0.6117859881416696 1.0 1.0 7 P16278 1 |
| Generalized edema 0.5304378782484894 0.5074485173908007 0.6118401506464275 1.0 1.0 4 Q13724,Q86YH6,O43175 3 |
| Short nail 0.465307010448386 0.507181289880349 0.6120276217715228 1.0 1.0 5 O75844,Q9Y487 2 |
| Abnormality of the scrotum 0.3310074951151792 0.5048661832840721 0.6136528271630999 1.0 1.0 40 P46977,Q15555,Q9BV10,Q8NBL1,P16435,Q9UBM7,P51809,Q6NUK1,Q9Y296,Q7LGA3,Q9Y619 11 |
| Peptic ulcer 0.4459208926110701 0.5046934720572442 0.6137741467526903 1.0 1.0 12 Q9Y4P3,P04062,O76024 3 |
| Distal upper limb amyotrophy 0.4455781832177898 0.502929026541967 0.6150141725063469 1.0 1.0 12 P07196,Q9NR77,Q9BQT8,Q15120 4 |
| Diastasis recti 0.5282001663311438 0.4991886553210303 0.6176464859428021 1.0 1.0 4 Q8NCH0 1 |
| Abnormality of the septum pellucidum 0.3237875881068771 0.4973787944845573 0.6189219564884074 1.0 1.0 36 Q9NZ01,P53701,Q96N66,Q9BV10,Q15392,P51571,O95202,Q9NX14 8 |
| Elbow flexion contracture 0.3918572881905423 0.4973200339632737 0.6189633862975776 1.0 1.0 23 Q96AY3,P50402,P16435,P23786,Q969X5,P48651,O14656,Q7LGA3,Q9BTV4 9 |
| Abnormal cardiac ventricular function 0.434225661259573 0.4967689516342985 0.6193519923995559 1.0 1.0 15 P10253,P21912,P03886,O75844,P00403 5 |
| Dysplasia of the femoral head 0.5432034830768617 0.4965189671909688 0.6195283087316907 1.0 1.0 3 O75431 1 |
| Genu varum 0.454097055706219 0.49563658800668 0.6201508338137325 1.0 1.0 7 Q9Y619 1 |
| Abnormal periventricular white matter morphology 0.3267549758652435 0.4950598664062696 0.6205578623753369 1.0 1.0 38 P17900,P07602,Q9UHX1,O60313,P51571,O75503,O15121,O95202,Q9NZJ7,O43681 10 |
| Myotonia 0.4545813918439075 0.4935433125831925 0.6216287438135732 1.0 1.0 6 Q3ZAQ7,P50402 2 |
| Microscopic hematuria 0.5423487544483998 0.493475578223612 0.621676591675739 1.0 1.0 3 O60488,Q9BW27 2 |
| Emotional lability 0.3423566980453225 0.4929566518398072 0.622043216702953 1.0 1.0 48 Q15165,Q92804,Q15526,O95292,Q7KZN9,P07602,O75306,P35637,Q9UQN3,Q9P0J0,Q9Y4W2,Q96CU9,P10644,Q9NZJ7,O00483,O43681 16 |
| Abnormal rectum morphology 0.3446587830847569 0.4919185179858718 0.6227769467920268 1.0 1.0 29 P53701,P21912,Q9NX14,Q8TAA9 4 |
| Delayed fine motor development 0.4542173993209996 0.4918930098003494 0.6227949801345825 1.0 1.0 6 P16435 1 |
| Polyhydramnios 0.3326692216386946 0.4907287860072445 0.6236182839406554 1.0 1.0 42 P04062,P51798,Q9BV10,Q9UBM7,P21964,Q14739,Q70HW3,O14656,O75844,Q9NVI7 10 |
| Psychotic mentation 0.5255023571615451 0.4892764128081938 0.624646017771783 1.0 1.0 4 P03886 1 |
| Abnormal uvea morphology 0.3912344639997554 0.4890998963645685 0.6247709748317627 1.0 1.0 81 P56589,P53701,Q9NR77,Q9UHX1,O75381,Q9UBM7,P21912,Q9Y5Y5,Q5XKP0,P40855,Q9Y4P3,O95202,Q9NX14,P10644,Q10713,Q96J42,Q7LGA3,Q9Y619 18 |
| Abnormal anterior horn cell morphology 0.4609949505090198 0.488512710539755 0.6251867248541743 1.0 1.0 5 Q13510 1 |
| Abnormal aortic arch morphology 0.4484082186121159 0.4823816616189083 0.6295348459203909 1.0 1.0 9 P21964 1 |
| Shuffling gait 0.4462036904279438 0.481036540183369 0.6304905289844362 1.0 1.0 10 P04062 1 |
| Slow saccadic eye movements 0.4495822194701426 0.4804615532488375 0.6308992350092171 1.0 1.0 8 Q8IV08,P04062 2 |
| Sclerosis of skull base 0.5379908985024343 0.4780540731169652 0.6326117191797664 1.0 1.0 3 Q14739 1 |
| Bifid scrotum 0.4583275245953557 0.4770383654364988 0.633334802377925 1.0 1.0 5 P16435,Q9UBM7 2 |
| Abnormal peripheral nervous system physiology 0.3340154781768087 0.4739335703162453 0.6355472791803773 1.0 1.0 44 Q99720,Q9NR77,O15269,O60220,P07602,O60313,Q15120,O15121,Q9UBB4,Q9NZJ7,Q9Y619,O43681 12 |
| Stenosis of the external auditory canal 0.4493003770862698 0.4735216879150128 0.635841031682499 1.0 1.0 7 O95202 1 |
| Abnormality of salivation 0.3308060771434449 0.4734749208073199 0.6358743893766163 1.0 1.0 42 Q15165,Q9NR77,P08247 3 |
| Abnormality of extrapyramidal motor function 0.369063240305926 0.4728719366173867 0.6363045475844202 1.0 1.0 67 O14949,Q9UBB4,P16278,P06865,O75251,Q9H6K4,P35637,O96008,Q9NZJ7,P11802,P17900,Q99720,P04062,P05067,P12235,Q13057,P49768,Q9H078,P07602,Q9UQN3,Q9Y4W6,Q9Y4P3,Q9BPX6,Q96IX5 24 |
| Gastrointestinal hemorrhage 0.358873381806196 0.471336497319525 0.6374004563070712 1.0 1.0 27 Q8N5K1,Q9UHX1,O76024,P21912,P21964,Q14739,Q9UGP8,Q9UJS0 8 |
| Fibrous tissue neoplasm 0.4282656269993047 0.4640889588404305 0.6425840119098258 1.0 1.0 15 Q13126,P21912,Q15392,P10644,Q96JJ3 5 |
| Limb girdle muscular dystrophy 0.4479459934487477 0.4636107278843118 0.6429266669025635 1.0 1.0 6 Q9BTV4,P50402 2 |
| Abnormal cd4 cd8 ratio 0.4477924677719643 0.4629220739301774 0.6434202245442957 1.0 1.0 6 Q9H0U3,Q13432 2 |
| Medullary nephrocalcinosis 0.717538242618291 0.4615126864626034 0.6444308216185732 1.0 1.0 2 O14656 1 |
| Senile plaques 0.5331713871371611 0.4611894802592502 0.6446626684056271 1.0 1.0 3 P49768 1 |
| Eeg with continuous slow activity 0.5331713871371611 0.4611894802592502 0.6446626684056271 1.0 1.0 3 P49768 1 |
| Expressive aphasia 0.5331713871371611 0.4611894802592502 0.6446626684056271 1.0 1.0 3 P49768 1 |
| Alexia 0.5331713871371611 0.4611894802592502 0.6446626684056271 1.0 1.0 3 P49768 1 |
| Grammar specific speech disorder 0.5331713871371611 0.4611894802592502 0.6446626684056271 1.0 1.0 3 P49768 1 |
| Collectionism 0.5331713871371611 0.4611894802592502 0.6446626684056271 1.0 1.0 3 P49768 1 |
| Lack of insight 0.5331713871371611 0.4611894802592502 0.6446626684056271 1.0 1.0 3 P49768 1 |
| Abnormal circulating albumin concentration 0.3401623191633768 0.4544943057548496 0.6494730894492093 1.0 1.0 29 Q9BV10,P57740,Q96D53,Q6PGP7,Q5XKP0,Q9UJS0,Q9BT22,O95470 8 |
| Dysmetric saccades 0.4458476036217103 0.4542140974421793 0.6496747373426968 1.0 1.0 6 Q9Y4W6,O14773 2 |
| Fatigable weakness of respiratory muscles 0.4291393918848647 0.4496388219467113 0.6529708905880107 1.0 1.0 14 Q15165,Q92804,P35637,O95292 4 |
| Developmental cataract 0.3482602483048301 0.4481084342794795 0.6540749413015852 1.0 1.0 55 O76024,P21912,O00400,Q15800,P03886,Q9NVI7,Q99797 7 |
| Rhinitis 0.4437352581404777 0.4480815815756759 0.6540943201192282 1.0 1.0 7 P51798 1 |
| Attenuation of retinal blood vessels 0.4436731666041519 0.4477991212967356 0.6542981776355996 1.0 1.0 7 P38435 1 |
| Abnormal lymphocyte morphology 0.3213336314779248 0.4464431774495061 0.655277149577342 1.0 1.0 31 Q9BV10,Q9H0U3,Q13432,Q6PGP7,P16278,O95470 6 |
| Contractures of the large joints 0.7122020633226672 0.4456683741876517 0.6558368126189438 1.0 1.0 2 O75431 1 |
| Optic nerve dysplasia 0.7122020633226668 0.4456683741876515 0.655836812618944 1.0 1.0 2 O43505 1 |
| Cranial asymmetry 0.4439159275293166 0.4455948497244998 0.6558899315330791 1.0 1.0 6 O95202 1 |
| Bulbous nose 0.3163512563319524 0.4429981206014675 0.6577670940964464 1.0 1.0 35 P42892,Q96A33,P16435,O75431,P21964 5 |
| Urticaria 0.4399052672948329 0.4418621635833434 0.6585889517023349 1.0 1.0 9 P51648 1 |
| Synostosis involving digits 0.7097118463180423 0.4383538200478767 0.6611298170485018 1.0 1.0 2 P48651 1 |
| Symphalangism affecting the phalanges of the hand 0.7097118463180423 0.4383538200478767 0.6611298170485018 1.0 1.0 2 P48651 1 |
| Proximal symphalangism 0.7097118463180423 0.4383538200478767 0.6611298170485018 1.0 1.0 2 P48651 1 |
| Abnormality of globe size 0.3316607451750074 0.4378278001789797 0.6615111168112628 1.0 1.0 45 P53701,Q9UHX1,Q15555,O75431,P21964,Q6NUK1,O43924,Q96J42,Q9NX14 9 |
| Mild postnatal growth retardation 0.7086446104589175 0.4352347383328517 0.663392049948919 1.0 1.0 2 P10644 1 |
| Abnormal large intestine physiology 0.4102020838083388 0.4335922216904894 0.6645845841505853 1.0 1.0 18 P07602,P21964,O75298,Q8TAA9,Q9NZJ7,O43681 6 |
| Acne 0.4314373618173835 0.4309054494654706 0.6665371209143562 1.0 1.0 12 Q8NBL1,P49768,Q92542,P21964 4 |
| Joint swelling 0.4471315928331587 0.4295397614679069 0.6675304643362596 1.0 1.0 5 Q13510 1 |
| Communicating hydrocephalus 0.4466836787750125 0.4276629900278569 0.6688964987301076 1.0 1.0 5 P07237 1 |
| Abnormal femoral neck head morphology 0.3241479510714823 0.4266422238350589 0.6696399384829212 1.0 1.0 41 Q9Y487,Q96A33,Q96HY6,O75431,Q14739,P16278,O75844,Q7LGA3,Q9Y619 9 |
| Abnormal sacrum morphology 0.3279677983038618 0.4252043035444884 0.6706877472452588 1.0 1.0 30 P53701,Q14739,Q8TAA9,O95202,Q9NX14 5 |
| Calvarial skull defect 0.4386749018040388 0.4251663479485011 0.6707154140778535 1.0 1.0 7 O95202 1 |
| Focal myoclonic seizure 0.4386267462976081 0.4249493231581737 0.6708736177318073 1.0 1.0 7 P21912 1 |
| Vertebral fusion 0.4344916718493903 0.4242146657041757 0.6714092661638607 1.0 1.0 10 O95202,Q9UHX1 2 |
| Gingival overgrowth 0.3601962475422781 0.4229927464782504 0.6723005532516129 1.0 1.0 26 Q9UBM7,Q14739,Q6UN15,Q9Y4P3,P10644,P16278,Q8N766 7 |
| Neoplasm of the adrenal gland 0.4342071766325945 0.4228487244628908 0.6724056355507795 1.0 1.0 10 P21912,P10644 2 |
| Metatarsus adductus 0.4296686852433307 0.422013747571622 0.6730149829811434 1.0 1.0 12 Q15392,O95202 2 |
| Spina bifida 0.3524318098903488 0.4217073700599453 0.6732386243011379 1.0 1.0 27 Q9HC21,Q9UHX1,P21964,Q8TAA9,Q10713 5 |
| Contractures of the joints of the upper limbs 0.3508427141743 0.4166293531771496 0.6769495357202868 1.0 1.0 59 Q9NR77,Q8IZA0,P16435,P57740,P48651,O14656,Q9BTV4,Q9Y619,P42892,P35637,Q969X5,P07196,Q96L58,Q99720,P50402,O75844,Q96AY3,P23786,Q15392,Q7LGA3 20 |
| Foot dorsiflexor weakness 0.3665009769469646 0.4162459078386689 0.6772300698997875 1.0 1.0 25 Q99720,Q9NR77,O15269,P05023,Q14739,Q8TB36,Q9BQT8,O43819,Q96BR5,P07196 10 |
| Wormian bones 0.4156351730828249 0.4157897217371186 0.6775638806021007 1.0 1.0 16 Q9Y487,Q96AY3,O75718,Q32P28,O75844 5 |
| Abnormal vitamin b12 level 0.4435553548589688 0.4146084450817572 0.6784285649319559 1.0 1.0 5 P41440 1 |
| Progressive muscle weakness 0.4255068989942257 0.4145345513989898 0.678482668558861 1.0 1.0 13 O75381,P40855,Q9Y5Y5 3 |
| Hyperkinetic movements 0.4335738140448013 0.4120787101098623 0.6802817327573383 1.0 1.0 9 P07602 1 |
| Increased intracranial pressure 0.4143479027937246 0.4086956495970056 0.682763026784081 1.0 1.0 16 P07602,P21912,P10644,Q9NZJ7,Q96JJ3 5 |
| Photophobia 0.3203930633577794 0.4066608454991506 0.6842571017666672 1.0 1.0 40 O60220,P48449,Q15555,P07602,Q9Y287,P49327,Q13432,Q96S66,Q9Y4W6,P51648,Q9NZJ7,Q6P4Q7 12 |
| Abnormal calcium phosphate regulating hormone level 0.4306217694403446 0.4056967157898671 0.6849654556845786 1.0 1.0 10 P21912,P10644 2 |
| Abnormal urine carbohydrate level 0.4286228813463256 0.4053750898286232 0.6852018185569255 1.0 1.0 11 P16278,P10253,Q6PGP7 3 |
| Hypoplastic labia majora 0.4301447408951607 0.4034235968377314 0.6866366305368177 1.0 1.0 10 Q6NUK1,Q9Y619 2 |
| Abnormal labia majora morphology 0.4301447408951607 0.4034235968377314 0.6866366305368177 1.0 1.0 10 Q6NUK1,Q9Y619 2 |
| Athetosis 0.4168798609308939 0.4024967482506906 0.687318481007595 1.0 1.0 15 O14949 1 |
| Coxa valga 0.39971893809985 0.3999363361262408 0.6892034083838208 1.0 1.0 19 P16278,O75844,Q96A33 3 |
| Bone spicule pigmentation of the retina 0.4309502389975439 0.3998423291920398 0.6892726513421765 1.0 1.0 9 Q9UG56,Q15555 2 |
| Anencephaly 0.419063748198017 0.3966149014860791 0.6916514621714005 1.0 1.0 14 Q96J42,Q8TAA9,P21964 3 |
| Aplasia hypoplasia of the lungs 0.3157131301603375 0.3962427051667723 0.691925989880452 1.0 1.0 31 O96000,Q14739,Q6NUK1,Q8TAA9,O95202,O75844 6 |
| Cachexia 0.407254929442248 0.3914801869843061 0.6954423309771443 1.0 1.0 17 Q9NZJ7,P04062,P07602 3 |
| Abnormality of renal excretion 0.4307742258508803 0.3898375542613826 0.6966566721061278 1.0 1.0 7 O43772 1 |
| Vertebral segmentation defect 0.3482375192633004 0.3896516476277373 0.6967941554531474 1.0 1.0 27 Q9UHX1,P16435,Q8TAA9,O95202,Q9Y619 5 |
| Neuronal loss in basal ganglia 0.4309779156900751 0.3886838247832533 0.6975100493086148 1.0 1.0 6 O75306,O43819 2 |
| Hypertriglyceridemia 0.4067336019548837 0.3885532123077375 0.6976066833628276 1.0 1.0 17 O95470,O75431,Q9UJS0,P50402 4 |
| Abnormality of the calf 0.336814831120031 0.3861335820929038 0.6993977399377616 1.0 1.0 52 Q13126,Q9NR77,P51798,Q9BV10,Q96HY6,P16435,O75431,Q9Y4P3,P16278,Q7LGA3,Q9Y619 11 |
| Falls 0.4276987342453113 0.3847673676468677 0.7004097781041629 1.0 1.0 9 P21912,Q5T8D3 2 |
| Abnormal iliac wing morphology 0.4261793083864363 0.3846116139017919 0.7005251882013053 1.0 1.0 10 P16278,Q8TAA9,Q96L58 3 |
| Aplasia hypoplasia of the uterus 0.4165076351436698 0.383317938711042 0.7014840400185465 1.0 1.0 14 P53701,Q9NX14,Q16740,O95202 4 |
| Neoplasm of the male external genitalia 0.4293010520378786 0.3833142977050687 0.7014867393470343 1.0 1.0 7 P10644,Q13423 2 |
| Hypomimic face 0.4292981558685955 0.3833014940273159 0.7014962316250719 1.0 1.0 7 P04062 1 |
| Talipes equinovarus 0.3604857853970318 0.3832320986324373 0.7015476801832272 1.0 1.0 68 Q9Y487,Q9NR77,Q8NI60,Q9HC21,Q9BV10,Q96A33,P16435,Q15392,P21964,O14656,Q6ZXV5,Q8TAA9,O95202,Q8NCH0,Q9Y619,Q15907 16 |
| Acute phase response 0.3866070315939223 0.3831381876582297 0.7016173063510178 1.0 1.0 21 Q02978,P21912,P10644,P41440,Q9Y244 5 |
| Type ii transferrin isoform profile 0.6901458555674204 0.3827280547931572 0.7019214107080052 1.0 1.0 2 Q15904 1 |
| Motor deterioration 0.4350514740257201 0.3796129568916679 0.7042327413757072 1.0 1.0 5 P21912 1 |
| Neonatal death 0.4156820208560261 0.3790373892572767 0.7046600991691694 1.0 1.0 14 P04062,Q14739,Q6NUK1,Q9NVI7,Q9NX14 5 |
| Delayed closure of the anterior fontanelle 0.4185058635220712 0.3788976762064784 0.704763849892744 1.0 1.0 13 O75381,P40855 2 |
| Increased serum lactate 0.4154711157396675 0.3786700304300906 0.7049329111046974 1.0 1.0 108 Q9BWD1,Q9Y6M9,Q86Y39,Q99757,O14949,O95298,P22695,Q96CU9,Q70HW3,P14927,O43819,P03886,Q15526,Q8NI60,P21912,Q9Y584,P08574,Q96DA6,Q3ZCQ8,Q9UBX3,O75880,P00846,O75306,Q53H12,Q9P0J0,P12235,Q5XKP0,Q9Y375,Q8IUX1,Q9NVI7,P13073,Q7KZN9,Q5JRX3,O00483,P00403,Q6P4A7,Q99797 37 |
| Abnormal metatarsal morphology 0.3911120877882523 0.3782199452002359 0.7052672099369239 1.0 1.0 20 P16435,Q9UBM7,Q15392,P10644,O95202 5 |
| Abnormality of the phalanges of the hallux 0.687655638562796 0.3758930149061499 0.7069964336513987 1.0 1.0 2 Q8WVQ1 1 |
| Quadriceps muscle weakness 0.5075678319139847 0.375267329970767 0.7074616605993675 1.0 1.0 3 P12235 1 |
| Coloboma 0.3120607393433684 0.3738332519320778 0.7085283787374674 1.0 1.0 37 P53701,Q9UHX1,Q9UBM7,O43924,O95202,Q10713,Q9NX14 7 |
| Heart block 0.3952140113886589 0.3732662283996395 0.7089503088701326 1.0 1.0 19 P50402,O43772,Q9H490,P23786,P0DP25,P04899,P06280,Q9BTV4 8 |
| Abnormality of the musculature of the thigh 0.4269562397791303 0.3713071486189369 0.7104087741194622 1.0 1.0 6 P07196,Q9BTV4,P50402 3 |
| Abnormal meningeal morphology 0.4035994526948353 0.3710183352802241 0.7106238752616914 1.0 1.0 17 Q9UHX1,Q96DA6,P21964,Q8TAA9,Q10713 5 |
| Ovarian cyst 0.4136927836030755 0.3687533009855131 0.7123116156797564 1.0 1.0 14 Q9Y4P3,P16435,P21912 3 |
| Lissencephaly 0.3209411217823638 0.3685674185875752 0.7124501845721927 1.0 1.0 43 Q9Y487,Q9HC21,Q9BV10,Q9Y320,P23786,Q15392,Q86XL3,Q6ZXV5 8 |
| Abnormality of iron homeostasis 0.432185432320057 0.3679887449026815 0.71288162653364 1.0 1.0 5 Q6PGP7 1 |
| Hand muscle weakness 0.4239047072412514 0.367308497110272 0.713388916623245 1.0 1.0 9 P07196,Q9NR77,Q15120 3 |
| Dyslexia 0.424713490419161 0.3662084841663636 0.7142095118263516 1.0 1.0 8 Q9H6K4,P49768,Q9UQN3 3 |
| Clonus 0.3288377392814782 0.3613153418658974 0.7178637261523444 1.0 1.0 29 Q99720,O60220,O75027,P07602,Q3ZCQ8,O00400,O75298,Q9BQT8,Q9NZJ7,Q9Y619 10 |
| Dysdiadochokinesis 0.4149248429632879 0.3608624544768014 0.7182022720075658 1.0 1.0 13 O75503,P41440,O75027,Q9UBB4 4 |
| Retinal atrophy 0.3443849184797348 0.3604111775387089 0.7185396690444648 1.0 1.0 27 Q7LGA3,Q10713,P51648,P04062 4 |
| Cholangitis 0.6816079686944219 0.3595337815754342 0.7191958108380576 1.0 1.0 2 Q96J02 1 |
| Long toe 0.4218877887957308 0.3580871325305348 0.7202781082096332 1.0 1.0 9 P23786,Q9UHX1 2 |
| Abnormality of the tongue 0.3733472289963624 0.3566201045268931 0.7213762246144979 1.0 1.0 79 Q10713,Q96A33,O75381,Q9UBM7,P21912,O75431,Q9Y5Y5,Q6NUK1,Q13510,P40855,Q9Y4P3,O43924,P16278,O75844,Q96J42,Q7LGA3,P56589 17 |
| Muscle fiber atrophy 0.4046803798809531 0.3559649317836488 0.7218668276815805 1.0 1.0 16 Q99720,P50402,P35637,P23786,P53007,Q9BTV4 6 |
| Abnormal upper motor neuron morphology 0.4211167854339299 0.3545733744323538 0.7229092258688825 1.0 1.0 9 Q99720,O94905,P35637,P43243,Q13148 5 |
| Osteolysis 0.3704022681747136 0.3531342551646197 0.7239877932025358 1.0 1.0 23 O75844,P04062 2 |
| Hypolipoproteinemia 0.421684557487762 0.3526889409570957 0.7243216511045665 1.0 1.0 8 Q9Y6B6,Q9UJS0,P37268,Q15800 4 |
| Short femur 0.4218478384458572 0.3494686773194857 0.7267374821223387 1.0 1.0 6 Q9BV10,Q9UHX1 2 |
| Postural instability 0.4032660483826695 0.3483368737729156 0.7275872045371652 1.0 1.0 16 O75503,P41440,Q9NR77,P04062 4 |
| Chronic diarrhea 0.3994558097167836 0.3480049463892131 0.7278364687359391 1.0 1.0 17 Q96A33,Q9BT22 2 |
| Infantile spasms 0.3633848676229254 0.3477096481296044 0.7280582501309625 1.0 1.0 24 Q9UBX3,P00846,P03886 3 |
| Recurrent fractures 0.3422931415028915 0.3446237770220748 0.730377228169286 1.0 1.0 27 Q13126,O75718,Q96AY3,P51798,Q9NVV0,P16435,Q32P28,P07237 8 |
| Telangiectasia 0.3421674524112968 0.343677242873242 0.7310890273889279 1.0 1.0 27 P00846,O75306,P21912,Q14739,P06280,P03886,Q96JJ3,P10619 8 |
| Spastic diplegia 0.3746628063890746 0.3428542810470676 0.7317080877282507 1.0 1.0 22 Q9NZJ7,P51648,P07602 3 |
| Femoral bowing 0.4200392473145196 0.3428009390286781 0.7317482194713745 1.0 1.0 7 P16435,Q32P28 2 |
| Pulmonary hypoplasia 0.3560632817415988 0.3422487471626545 0.7321637028338563 1.0 1.0 25 O96000,Q14739,Q6NUK1,Q8TAA9,O75844 5 |
| Back pain 0.3939909811585261 0.340249194922371 0.7336688735819994 1.0 1.0 18 Q8TAA9,Q9UGP8,P51798,P50402 4 |
| Abnormal anatomic location of the heart 0.4150665335621242 0.3402054347774121 0.7337018256758456 1.0 1.0 11 O75844,Q96J42 2 |
| Apnea 0.3598812088946055 0.3393841938272333 0.7343203242674741 1.0 1.0 71 O60313,Q86Y39,O43772,Q96CU9,O43819,O43924,P03886,Q10713,Q9NZJ7,O75880,P04062,P51798,P00846,O76024,Q96A33,O75306,Q9P0J0,Q7KZN9,P07602,P23786 20 |
| Abnormal drinking behavior 0.4806845437651953 0.3331639580976924 0.739010522718005 1.0 1.0 4 O76024 1 |
| Dark urine 0.6712913553895484 0.3324335648994613 0.7395618971546021 1.0 1.0 2 P36551 1 |
| Large fleshy ears 0.6705798648167987 0.330602960352873 0.7409444098115241 1.0 1.0 2 P21281 1 |
| Single transverse palmar crease 0.311974171511599 0.3299010391698316 0.7414747382767248 1.0 1.0 40 Q9UHX1,O75381,Q9Y5Y5,P40855,O95202,Q15907 6 |
| Hypokalemia 0.4169464674303437 0.329474353394132 0.741797175837049 1.0 1.0 7 P05023 1 |
| Lower limb hyperreflexia 0.3920706282424863 0.3293918857306113 0.7418595001631163 1.0 1.0 18 Q14739,P21912,P13073 3 |
| Abnormal endocardium morphology 0.4029681940825749 0.3290101801833281 0.7421479933513329 1.0 1.0 15 P06280,Q9Y4P3,P04062,P10644 4 |
| Slowly progressive 0.3299744461461616 0.3248887404700556 0.745265278840932 1.0 1.0 52 Q9NR77,O14773,Q16637,Q3ZAQ7,Q9BTV4,O14979,Q15526,Q8NBL1,O95140,Q15120,Q8IV08,P07196,Q99720,P50402,Q9P0J0,P12235,P05023,O75340,P41440,Q9Y4W6,Q96BR5 21 |
| Rapidly progressive 0.4128994101620979 0.3227913896227258 0.746853234335785 1.0 1.0 10 P49768,Q14108,Q8NHS3 3 |
| Resting tremor 0.3947080170365127 0.3218887719888383 0.7475369595320573 1.0 1.0 17 P04062,P07602,Q9H6K4,Q9NZJ7,Q9BPX6 5 |
| Fever 0.3592969400608239 0.3216436010283222 0.747722708786708 1.0 1.0 72 Q9NR77,Q9NZJ7,P07602,P00846,P51572,P23786,Q14739,Q6UN15,Q96D53,P03886,Q9HC07,Q13510,P00403,Q9Y244 14 |
| Abnormal venous morphology 0.3594993422874876 0.3213902214636621 0.7479146925309217 1.0 1.0 24 Q6NUK1,P04062,P21964 3 |
| Muscle spasm 0.3325151637908837 0.3204694596722511 0.7486124782032717 1.0 1.0 54 Q15165,Q92804,Q9NR77,P04062,P13473,P00846,Q16637,Q9H6K4,P35637,P12235,P05023,P23786,P06280,O75298,P07196 15 |
| Chorioretinal coloboma 0.4201793618143464 0.3203024759784685 0.7487390463949724 1.0 1.0 5 O60826,Q10713 2 |
| Supernumerary bones of the axial skeleton 0.4201284843985657 0.3201040321357636 0.7488894691558581 1.0 1.0 5 Q9UHX1 1 |
| Mandibular prognathia 0.3153708583892765 0.318230419600572 0.7503101597129618 1.0 1.0 30 P51812,Q9UHX1,Q6NUK1,P48651,Q13620,Q06210,Q9NXE4,P16278,P10644,Q9NVI7 10 |
| Abnormality of adrenal morphology 0.3856492618760571 0.3174366272260122 0.750912318684942 1.0 1.0 19 O75844,P16435,P21912 3 |
| Aplasia hypoplasia of the nipples 0.4006372885626302 0.3169159580341119 0.751307372947335 1.0 1.0 15 Q96A33,O95202 2 |
| Thoracic kyphosis 0.4033810421884389 0.3161544783697099 0.7518852579090876 1.0 1.0 14 P51648,P04062 2 |
| Lower limb muscle weakness 0.3041400178943447 0.316054406486371 0.7519612125550772 1.0 1.0 36 Q9NR77,P00846,O00400,O75298,Q13510 5 |
| Deformed tarsal bones 0.6645321949484246 0.3152471840120058 0.7525739828982603 1.0 1.0 2 O75787 1 |
| Abnormality of the metaphysis 0.3116864492874994 0.3131722903548551 0.7541497693924297 1.0 1.0 41 Q9UG56,Q13126,P51798,Q96HY6,Q14739,P48651,P07237,Q9HC07,P16278 9 |
| Spinal cord lesion 0.4182057310550942 0.3126279315194931 0.754563354803583 1.0 1.0 5 O00400 1 |
| Dry hair 0.6634649590892998 0.3125756687663338 0.7546030659790184 1.0 1.0 2 Q9Y276 1 |
| Weakness of muscles of respiration 0.3146059443821788 0.3118193455761244 0.755177820925087 1.0 1.0 30 P10253,Q15526,P50402,Q969X5,P12235,P53007,Q06210,Q15067,Q13510,Q9BTV4 10 |
| Hypoplastic nipples 0.4104535415302252 0.3116204877910319 0.7553289620366521 1.0 1.0 10 Q96A33 1 |
| Loss of ability to walk 0.4086832947230976 0.3102148811226655 0.7563975548676711 1.0 1.0 11 P00846 1 |
| Aplasia hypoplasia of the distal phalanges of the hand 0.3140322864477663 0.3070184502819345 0.7588293287020982 1.0 1.0 30 P16435,P08247,Q6NUK1,P38435,O75844 5 |
| Tracheal stenosis 0.4854334029478626 0.3066136447183836 0.7591374666173358 1.0 1.0 3 Q96HY6 1 |
| Emg abnormality 0.3458054135676726 0.3058645074046382 0.7597078106452235 1.0 1.0 64 Q9NR77,O14773,P13473,O60313,Q16637,O43819,Q9BTV4,Q8NI60,P03928,Q969X5,Q15120,P53007,Q9NZJ7,P07196,Q13510,O95292,O15269,P50402,P12235,O43681,P49768,P07602,P42167 23 |
| Generalized muscle weakness 0.3217561097339892 0.3040185377974399 0.7611137680874971 1.0 1.0 29 P10253,Q92804,Q15165,O95292,P35637,P21912,P12235,P53007 8 |
| Retinal detachment 0.4072068775430676 0.3033475106143849 0.7616250425671329 1.0 1.0 11 Q8NCH0,Q9BV10,O43505 3 |
| Cerebral dysmyelination 0.410405428781282 0.3032296020508646 0.7617148911742948 1.0 1.0 8 P07602 1 |
| Oculomotor apraxia 0.3683447575555207 0.3028620152359119 0.7619950200543251 1.0 1.0 22 O14773,O43292,P04062,P05067,P49768,O43924,O96008,Q10713 8 |
| Brittle hair 0.3946757944052558 0.3025286893696186 0.7622490664712038 1.0 1.0 16 Q6NUK1,O75844,Q9Y487,Q9NVI7 4 |
| Abnormal urine protein level 0.330381074818769 0.3015922469652266 0.7629629189795182 1.0 1.0 54 Q15526,P04062,P57740,P21912,O75431,Q14108,P09601,P06280,Q96D53,Q9Y4P3,P03886,O95470,P00403 13 |
| Aplasia hypoplasia of the ribs 0.3783069831053412 0.3014602716947501 0.7630635402995867 1.0 1.0 20 Q9BV10,Q9UHX1,Q96HY6,Q14739,Q8TAA9,Q9Y619 6 |
| Skeletal muscle hypertrophy 0.3084973866203498 0.298569491791301 0.7652685462210655 1.0 1.0 40 Q9NR77,Q96A33,P21912,Q9Y4P3,P16278,Q10713,Q7LGA3 7 |
| Arthralgia 0.3045398029046235 0.2979179915647516 0.7657657558425659 1.0 1.0 31 P14174,Q96HY6,P06280,Q9Y4P3,Q15800,Q13510,Q9Y244 7 |
| Overlapping toe 0.3902078232734856 0.2974011537462265 0.766160262949303 1.0 1.0 17 Q96A33,Q9UHX1,Q15907 3 |
| Hypoplastic female external genitalia 0.4040817505590062 0.2969342644762339 0.7665166960034213 1.0 1.0 12 Q6NUK1,Q9Y619 2 |
| Limited elbow movement 0.2972306470593351 0.2965688036591077 0.7667957309347146 1.0 1.0 33 Q96AY3,P50402,P16435,Q9H6K4,P23786,Q969X5,P48651,O14656,Q7LGA3,Q9BTV4 10 |
| Aplasia hypoplasia of the breasts 0.4136031766135565 0.2949215826160228 0.76805378431026 1.0 1.0 5 Q9Y619 1 |
| Fatigable weakness of bulbar muscles 0.3987547393043247 0.2929755931450809 0.7695408073926933 1.0 1.0 14 Q15165,Q92804,P35637,O95292 4 |
| Low set posteriorly rotated ears 0.3538293743567108 0.2867561337718018 0.7742990530795826 1.0 1.0 71 P04062,Q15555,O75381,P16435,Q9UBM7,Q15392,Q9Y5Y5,Q6NUK1,P40855,O43924,O95202,Q10713,Q96J42,Q8NCH0,P56589 15 |
| Elevated circulating follicle stimulating hormone level 0.4781651469043763 0.2853424326206094 0.7753818069436829 1.0 1.0 3 P16435 1 |
| Myocardial fibrosis 0.4777500203603863 0.284147563065791 0.7762972984029657 1.0 1.0 3 P13473 1 |
| Specific learning disability 0.3312217483997473 0.2824701397132933 0.7775830397608625 1.0 1.0 56 P53701,P49768,Q9H6K4,P35637,Q9UQN3,O43505,P21964,P48651,P10644,P03886,Q9BPX6,Q10713,Q96EK5,Q9NX14,P00403,Q9Y619 16 |
| Enlarged cisterna magna 0.3964897636634534 0.281729701665269 0.7781507779691399 1.0 1.0 14 Q10713,Q9H490,Q9NPL8 3 |
| Hyperthyroidism 0.4052189086757651 0.2799455976878503 0.7795192433447744 1.0 1.0 7 P21964 1 |
| Truncus arteriosus 0.4047698575495745 0.2790807530144369 0.7801828534151207 1.0 1.0 8 P21964 1 |
| Agnosia 0.403930973137895 0.2780048733195965 0.7810086177964375 1.0 1.0 9 P49768,P05067,O96008 3 |
| Dysphasia 0.3865136577858863 0.277506143467053 0.7813914891908831 1.0 1.0 17 P53701,Q9NX14,P21964 3 |
| Broad palm 0.4044723154637409 0.2773478996387328 0.781512982942077 1.0 1.0 6 Q14739 1 |
| Exostoses 0.4081196581196555 0.2741874570303895 0.7839405667387684 1.0 1.0 5 O75874,Q06124,O60216,Q04656 4 |
| Abnormality of the dorsal column of the spinal cord 0.4740213523131668 0.2735141495652599 0.7844580170903239 1.0 1.0 3 P54886,Q8WVX9 2 |
| Abnormality of t cell physiology 0.3990044731195933 0.2730274542591768 0.7848321115924779 1.0 1.0 12 P21964 1 |
| Fulminant hepatic failure 0.4733096085409197 0.2715047884945687 0.7860028172917506 1.0 1.0 3 P40939,Q16836 2 |
| Pericarditis 0.4070083817170923 0.2700349624463139 0.7871333562355911 1.0 1.0 5 P14174 1 |
| Facial hemangioma 0.4606192804629287 0.2695497876370921 0.7875066344156896 1.0 1.0 4 P16435 1 |
| Widened subarachnoid space 0.338957038587375 0.2687107851162555 0.78815225162678 1.0 1.0 26 P03886,Q01105,P00403,P08247 4 |
| Lower limb amyotrophy 0.3881135910759543 0.2681901248556735 0.7885529758834386 1.0 1.0 16 Q9NR77,Q15120,O00400,O75298,P07196,Q9NVI7 6 |
| Abnormality of facial musculature 0.3443127018824147 0.2673659695521787 0.7891873983395317 1.0 1.0 66 O75381,O60313,P08247,P48651,O43819,Q15907,Q15526,Q9UHX1,Q9Y5Y5,P53007,P07196,Q13510,P56589,P10253,P04062,P51798,P12235,P40855,Q9BQT8 19 |
| Heterogeneous 0.3048533913225289 0.2659986466190777 0.7902402513297864 1.0 1.0 40 Q9NR77,Q9BQE5,Q15526,Q15555,P51798,P00846,P35232,P12235,P21964,P03886,O75844,Q9Y619 12 |
| Neonatal alloimmune thrombocytopenia 0.4711743772241911 0.2655163291035756 0.7906117323451503 1.0 1.0 3 Q9Y3Z3,O75792 2 |
| Porencephalic cyst 0.4711743772241911 0.2655163291035756 0.7906117323451503 1.0 1.0 3 Q9Y3Z3,O75792 2 |
| Moyamoya phenomenon 0.4711743772241911 0.2655163291035756 0.7906117323451503 1.0 1.0 3 Q9Y3Z3,O75792 2 |
| Csf pleocytosis 0.4711743772241911 0.2655163291035756 0.7906117323451503 1.0 1.0 3 Q9Y3Z3,O75792 2 |
| Chilblains 0.4711743772241911 0.2655163291035756 0.7906117323451503 1.0 1.0 3 Q9Y3Z3,O75792 2 |
| Chronic lymphatic leukemia 0.4711743772241911 0.2655163291035756 0.7906117323451503 1.0 1.0 3 Q9Y3Z3,O75792 2 |
| Csf lymphocytic pleiocytosis 0.4711743772241911 0.2655163291035756 0.7906117323451503 1.0 1.0 3 Q9Y3Z3,O75792 2 |
| Chronic leukemia 0.4711743772241911 0.2655163291035756 0.7906117323451503 1.0 1.0 3 Q9Y3Z3,O75792 2 |
| Abnormal morphology of the abdominal musculature 0.3989011060305768 0.2652320110911253 0.7908307364105231 1.0 1.0 11 Q8NCH0 1 |
| Elevated hemoglobin a1c 0.4707939596993495 0.2644556807741303 0.791428811066234 1.0 1.0 3 O75431 1 |
| Abnormality of the common coagulation pathway 0.3961879522580304 0.2599149852558673 0.794929351867059 1.0 1.0 12 Q6UN15,P38435,Q9BV10 3 |
| Anal atresia 0.3755017699212459 0.259557646207769 0.7952050102100496 1.0 1.0 19 P53701,Q8TAA9,P21964 3 |
| Progressive microcephaly 0.3000348336081813 0.2589535786931454 0.7956710578533519 1.0 1.0 31 Q9Y487,Q9BV10,P50897,Q9BT22,Q5T8D3 5 |
| Emg myopathic abnormalities 0.3663051919533338 0.2587033984147834 0.7958640972552753 1.0 1.0 21 P13473,P50402,P12235,P53007,P07196,Q9BTV4 6 |
| Abnormality of the skull base 0.3131417594261126 0.2571417413078137 0.7970693557133961 1.0 1.0 46 Q9Y487,Q9UHX1,Q9UBM7,Q9H490,P23786,Q9NPL8,O43505,Q14739,Q10713,Q96J42 10 |
| Gastrostomy tube feeding in infancy 0.3233570232594967 0.256997035111838 0.7971810618634845 1.0 1.0 28 Q99720,Q9BV10,Q9H490,O15121,Q01105 5 |
| Prenatal movement abnormality 0.3237360506284548 0.2565279384604619 0.7975432102293758 1.0 1.0 53 Q7KZN9,P04062,Q9HC21,Q9H2C2,Q9UM00,Q16637,Q9UBM7,Q969X5,Q70HW3,O14656,P40855,O95202,O75844,P56589 14 |
| Abnormal gastrointestinal motility 0.3435981463756456 0.2559729685832105 0.797971710052368 1.0 1.0 25 O76024,Q9UBM7,P35637,Q99757,P06280,P03886,P00403 7 |
| Ectrodactyly 0.3886078491323098 0.255637257478277 0.7982309467405599 1.0 1.0 15 Q99720,Q9NR77,P48449,Q9UBM7,Q8TB36,O95202,P07196 7 |
| Limb muscle weakness 0.3468705796274627 0.2517763765119456 0.8012139180241391 1.0 1.0 69 Q9NR77,Q16637,Q14739,Q3ZAQ7,O43819,Q15067,Q9BTV4,Q8NBL1,Q969X5,Q15120,P53007,P07196,Q13510,Q99720,Q13126,O15269,P00846,P50402,P12235,P05023,O00400,Q9Y4W6,Q8TB36,O75298,Q9BQT8,Q96BR5 26 |
| Bilateral sensorineural hearing impairment 0.364604543571906 0.2485589430694634 0.8037019705546307 1.0 1.0 21 P07602,P03886,Q9NZJ7,P00403,O43681 5 |
| Reduced visual acuity 0.3961114990701075 0.2477411325838539 0.8043347045024216 1.0 1.0 105 Q15555,O60313,Q9Y6M9,Q86Y39,O43505,Q96CU9,O43676,P03886,P16278,Q10713,P53701,Q9UHX1,Q9H6K4,P21912,Q9H061,Q8NHS3,Q9NZJ7,P17900,P51798,P00846,O75306,P50897,Q8IUX1,Q9NX14,O43681,O96000,P07602,Q9NPL8 28 |
| Hypoplasia of the ear cartilage 0.4636511166560906 0.2448976898771486 0.8065356504484889 1.0 1.0 3 P57740 1 |
| Increased c peptide level 0.6321593738883049 0.2395453606254928 0.8106827273724653 1.0 1.0 2 Q16836 1 |
| Mutism 0.385265600641444 0.2389775152651532 0.8111230178765356 1.0 1.0 15 P53701,P49768,P35637,Q9NX14,Q13510 5 |
| Bilateral cleft lip 0.6310921380291801 0.2372433080273211 0.8124680402273468 1.0 1.0 2 Q9NXE4 1 |
| Abnormal heart valve morphology 0.3478859511211399 0.2357464808997058 0.8136293996804072 1.0 1.0 71 P53701,P04062,P51798,Q9UHX1,O75431,P21964,Q6NUK1,Q6ZXV5,Q6PGP7,Q9Y4P3,O95202,P10644,P16278,O75844,Q9NX14,Q8NCH0 16 |
| Expressive language delay 0.3936515487491614 0.2328013419526009 0.8159156708258983 1.0 1.0 7 Q9UHX1 1 |
| Axonal regeneration 0.4463950186551658 0.2272715179175644 0.8202126190528432 1.0 1.0 4 P07196 1 |
| Increased circulating lactate dehydrogenase concentration 0.3887661726038144 0.2259041292637133 0.821275986151029 1.0 1.0 12 P23786,P10253,P41440,Q5JRX3 4 |
| Abnormal subarachnoid space morphology 0.3192420877633093 0.225864767374451 0.8213066012961736 1.0 1.0 28 P03886,Q01105,P00403,P08247 4 |
| Joint contracture of the hand 0.2971611636673179 0.2255116690290159 0.8215812485809468 1.0 1.0 38 Q9NR77,P16435,Q15392,O75844,Q9Y619 5 |
| Abnormal corneal epithelium morphology 0.3796262293257941 0.2247149167972222 0.8222010594486051 1.0 1.0 16 O75844,P51648 2 |
| Aplasia hypoplasia of the femur 0.3794735535395187 0.2239431975600797 0.8228015024162683 1.0 1.0 16 Q9BV10,Q9UHX1,Q96HY6,O75431,O00116,Q96L58 6 |
| Abnormal ureter morphology 0.3502903696892228 0.2235078046103771 0.8231403095593097 1.0 1.0 23 O75844,Q96J42,Q7LGA3,O76024 4 |
| Aganglionic megacolon 0.3845021800799105 0.2234218658279138 0.8232071879289928 1.0 1.0 14 Q10713,P21964,P42892 3 |
| Open mouth 0.3386884058419737 0.22274395029363 0.823734793160626 1.0 1.0 25 Q10713,Q86XL3,P04062 3 |
| Thickened calvaria 0.3904125363298342 0.2194534359611647 0.8262968484577742 1.0 1.0 8 P16278,P48651,P51812 3 |
| Motor seizure 0.3684953064624232 0.2193006009397405 0.8264158938129691 1.0 1.0 87 Q9NZ01,P04062,P07602,P00846,O43292,Q9Y619,P21912,Q9UBX3,Q5XKP0,Q8NHS3,P03886,P16278,Q9NZJ7,Q01105,P13073 15 |
| Bulbar palsy 0.3893380584770407 0.2159677365918782 0.8290128965575914 1.0 1.0 9 P35637,P53007,P43243,Q13148,O43681 5 |
| Cervical spinal canal stenosis 0.6207755247243066 0.2156489452581491 0.8292614005187837 1.0 1.0 2 Q9NSE4 1 |
| Vascular neoplasm 0.2896297518618501 0.2143674952175877 0.8302604875314588 1.0 1.0 34 Q9UHX1,P16435,P21912,O95202,P10619,Q7LGA3 6 |
| Hypotension 0.3488023230877836 0.214193020156821 0.8303965388892016 1.0 1.0 23 P04062,P07602,O43772,Q13423,Q9NZJ7 5 |
| Glomerulopathy 0.3874871388685302 0.210522383969999 0.8332599832134528 1.0 1.0 10 P06280,Q14108 2 |
| Aspiration pneumonia 0.3579888419119997 0.2095739841155937 0.834000186375923 1.0 1.0 21 P16278,P04062,Q6NUK1 3 |
| Jaundice 0.3091710382565531 0.209088178661954 0.8343794028181486 1.0 1.0 47 O75381,Q9Y5Y5,Q14739,Q6PGP7,P40855,Q9UJS0,P10644,P28288,P56589,O15118 10 |
| Cns hypomyelination 0.2882658649312501 0.2023500731491243 0.8396430568083231 1.0 1.0 34 Q99720,P51572,O00400 3 |
| Narrow iliac wing 0.4375222499109986 0.2021860267512616 0.8397712965848743 1.0 1.0 4 P50542,P51812,Q9NR45 3 |
| Dermal translucency 0.3856578259298284 0.2008103400031035 0.8408468774683802 1.0 1.0 9 O75844 1 |
| Abnormality of temperature regulation 0.3716978285039896 0.2002863909421693 0.8412566053682675 1.0 1.0 91 Q9NR77,O43772,Q14739,P03886,Q9HC07,Q8NBL1,P51572,Q96D53,Q9NZJ7,Q13510,Q9Y244,P10253,P51798,P00846,Q6UN15,Q5XKP0,P07602,Q9HC21,P23786,P10644,P00403 21 |
| Abnormal t cell subset distribution 0.3850612998718482 0.1983731516942586 0.8427531218606954 1.0 1.0 9 Q9H0U3,P49327,Q13432 3 |
| Abnormality of the gingiva 0.3001489475822368 0.1973689033436692 0.8435388625027385 1.0 1.0 42 P04062,Q5JRA6,Q9UM00,Q9UBM7,Q15392,Q14108,Q14739,Q6UN15,Q9Y4P3,P49257,P10644,P16278,Q96JJ3,Q8N766 14 |
| Abnormal circulating glutamine family amino acid concentration 0.3844882364250045 0.1967925891065682 0.8439898507528734 1.0 1.0 7 O95298,O96000,Q9UJS0 3 |
| Antineutrophil antibody positivity 0.4448543533973567 0.1967862972878927 0.8439947746276235 1.0 1.0 3 P49327 1 |
| Hand tremor 0.383333705814506 0.1964008915782289 0.8442963984716625 1.0 1.0 11 P07196,Q16637,O14656,Q15120 4 |
| Encephalocele 0.3826882042381511 0.1936269310396753 0.8464680093283921 1.0 1.0 11 Q10713,Q96J42,Q6ZXV5 3 |
| Decreased circulating copper concentration 0.4434163701067461 0.1933126063906467 0.8467141540675769 1.0 1.0 3 Q15904,Q10567 2 |
| Hamartoma 0.3730763755063753 0.1919575038653458 0.8477754933210799 1.0 1.0 16 O43924 1 |
| Retrognathia 0.3337614289732271 0.1897194106134569 0.8495290095827619 1.0 1.0 65 P53701,P04062,Q9UHX1,Q15392,O75844,Q7LGA3,Q8NCH0,Q9Y619 8 |
| Metrorrhagia 0.3840787261527957 0.188378207177241 0.8505801820184673 1.0 1.0 5 Q6UN15 1 |
| Diffuse alveolar hemorrhage 0.3840787261527957 0.188378207177241 0.8505801820184673 1.0 1.0 5 Q6UN15 1 |
| Abnormal palmar dermatoglyphics 0.3200085866267397 0.1856195980636054 0.8527430836214509 1.0 1.0 56 Q9Y487,Q9UHX1,O75381,Q9Y5Y5,Q6NUK1,P40855,O95202,Q8NCH0,P56589,Q15907 10 |
| Skin dimple 0.3331053932216968 0.1855536477395175 0.8527948059328319 1.0 1.0 25 P53701,Q9UM00,Q9Y4P3,Q8TAA9,O95202,Q9NX14 6 |
| Renal cyst 0.3243973030947171 0.1850592449866852 0.8531825672049216 1.0 1.0 59 Q9BX67,Q9UHX1,O75381,Q9UBM7,P23786,Q9Y5Y5,O43505,P21964,P40855,Q9UGP8,Q9Y4P3,Q10713,Q96J42,P56589 14 |
| Microretrognathia 0.3793467039606888 0.183954721604737 0.854048975592991 1.0 1.0 12 Q8NCH0 1 |
| Abnormality of the small intestine 0.3015367435094719 0.1827839633450749 0.854967532020646 1.0 1.0 44 Q96A33,P08247,Q14739,O95202,Q8NCH0 5 |
| Aplasia hypoplasia of the cerebral white matter 0.3806708995736434 0.1806088822466474 0.8566745835188425 1.0 1.0 9 P00403,P03886 2 |
| Abnormal neural tube morphology 0.2824799598052678 0.1791998403060976 0.8577807891137743 1.0 1.0 32 Q9HC21,Q9UHX1,P21964,Q8TAA9,Q10713 5 |
| Duplication of hand bones 0.3101949496207248 0.1787260914806314 0.8581527810003999 1.0 1.0 50 Q9UHX1,P21964,Q14739,O43924,O95202,Q10713,Q96J42 7 |
| Immunodeficiency 0.310134303726563 0.1782085546863441 0.8585591915954942 1.0 1.0 50 Q96A33,P21912,P09601,P21964,O95202,Q9BT22 6 |
| Abnormal ossification involving the femoral head and neck 0.4366762345543059 0.1774333398717567 0.8591680213318222 1.0 1.0 3 Q14739 1 |
| Abnormal pharynx morphology 0.2979978552343172 0.1757108281306297 0.8605211280446798 1.0 1.0 30 Q03518,Q9BV10,Q9H0U3,P54802,P16278,Q13510 6 |
| Diabetes insipidus 0.3792176482348078 0.1747973285725311 0.8612388875123924 1.0 1.0 9 P06280,O76024 2 |
| Abnormal corpus striatum morphology 0.3635642759741412 0.1745774896145603 0.8614116376171457 1.0 1.0 18 Q15526,O60220,P00846,O75306,O43819 5 |
| Undetectable visual evoked potentials 0.4352313167259796 0.1741163159062388 0.8617740508170828 1.0 1.0 3 Q86YH6,Q8TC12 2 |
| Abnormality of circulating adrenocorticotropin level 0.3774102491988164 0.1728852975282988 0.8627415885034844 1.0 1.0 6 P16435,Q13423 2 |
| Spinal muscular atrophy 0.377683958145541 0.1723541069141436 0.8631591495630366 1.0 1.0 11 Q99720,Q16637,Q13510 3 |
| Flared iliac wing 0.4260520606702878 0.1713092474311061 0.8639806095507645 1.0 1.0 4 P16278 1 |
| Platyspondyly 0.2814172144955096 0.1699267546866174 0.8650677399084095 1.0 1.0 32 Q96AY3,Q5JRA6,Q96HY6,Q32P28,Q14739,Q6NUK1,P16278,Q96L58 8 |
| Abnormality of the ureter 0.3225080023949195 0.1691005253991073 0.8657175716728385 1.0 1.0 59 Q9UHX1,O76024,P16435,Q9UBM7,P21912,P23786,P21964,Q86XL3,Q8TAA9,O75844,Q96J42,Q7LGA3 12 |
| Talipes valgus 0.3782051282051302 0.1687896585601359 0.865962092887179 1.0 1.0 5 O00754,Q9HD42,Q9H2M9,Q15233 4 |
| Dyskinesia 0.3234901280079797 0.1649509080953478 0.8689826223008839 1.0 1.0 60 Q9NZ01,Q96N66,Q15526,P04062,Q9H2C2,P00846,O75306,Q9P0J0,Q9UBX3,O43819,P03886,Q01105,Q9BPX6 13 |
| Insulin resistance 0.3715483770819258 0.1629702109646951 0.8705418892784751 1.0 1.0 14 O75844,O75431,O76024 3 |
| Triangular face 0.2886461564091562 0.1626493397435198 0.8707945367172392 1.0 1.0 31 O75381,P40855,P04062,Q6NUK1 4 |
| Glucose intolerance 0.3723448790045881 0.1610046642728788 0.8720897270128587 1.0 1.0 95 Q15555,O60313,Q9Y6M9,Q86Y39,Q96CU9,O43676,P03886,P00846,O76024,O75306,O75431,P12235,Q8TAA9,Q9Y375,Q8IUX1,O75844,Q9NX14,Q06136,Q969M3,O96000,Q9NPL8,P18031,Q9Y4P3,P10644,P00403 25 |
| Autism 0.2863650599423336 0.1585658323788089 0.8740109499617135 1.0 1.0 36 Q9H2C2,O76024,Q9UBM7,P21912,P21964,Q9Y4P3 6 |
| Soft skin 0.3750181200287404 0.1582007167342398 0.8742986389943352 1.0 1.0 9 Q13126,Q9NWM8 2 |
| Atrophy degeneration affecting the brainstem 0.375012946235585 0.1581804535657001 0.8743146056319655 1.0 1.0 9 O60313,O15121 2 |
| Dysuria 0.3746498526011229 0.1575094960895488 0.8748433245116005 1.0 1.0 8 O76024 1 |
| Chorea 0.3482907655421642 0.1555765610829464 0.8763668014958634 1.0 1.0 78 Q9NZ01,Q99720,P17900,Q96N66,P07602,P00846,Q9H6K4,O75306,Q9P0J0,Q5XKP0,O43819,P03886,Q9NZJ7,Q01105,Q9BPX6,Q96IX5,O43681 17 |
| Difficulty walking 0.3367842265708243 0.1544818794865633 0.8772297977835715 1.0 1.0 70 Q99720,Q9NR77,O14773,O43292,Q15526,P00846,O43681,P07602,Q9HC21,Q9H2C2,O75298,Q9BPX6,Q9NZJ7,Q13510,Q15907 15 |
| Leukoencephalopathy 0.3601472844742043 0.1501784538672606 0.8806238244203111 1.0 1.0 87 O60313,Q9Y6M9,Q86Y39,O95298,Q96CU9,O43676,P03886,Q9UHX1,O95202,Q9NZJ7,Q01105,P17900,O75306,P51571,Q8IUX1,Q9NX14,O43681,O96000,P07602,Q9NPL8,O15121,O75503 22 |
| Abnormal exteroceptive sensation 0.3038061024028764 0.1501472606811377 0.8806484339531815 1.0 1.0 48 Q9NR77,P07602,Q9H6K4,Q9NZJ7,Q8NCH0 5 |
| Agitation 0.2806249925292963 0.1494635027105559 0.881187906454622 1.0 1.0 33 Q15165,Q92804,O95292,P04062,P05067,P49768,P42892,P35637,Q9UQN3,P10644,O96008 11 |
| Tall stature 0.297560730706516 0.148780630449668 0.8817267351755889 1.0 1.0 44 Q9NWM8,P16435,O95202,P10644,Q13423,Q9Y296,Q7LGA3,Q8NCH0 8 |
| Oval face 0.3703561146523284 0.1474875713508547 0.8827471890760619 1.0 1.0 6 Q9UHX1 1 |
| Abnormality of the musculature of the lower limbs 0.3548089475994868 0.1468240903733643 0.8832708693812594 1.0 1.0 19 Q9NR77,P00846,P50402,P53007,P07196,Q9BTV4 6 |
| Cerebral hemorrhage 0.3715195090811197 0.1449105039412251 0.8847815330324258 1.0 1.0 10 Q02978,P21912,P23786 3 |
| Abnormality of the tarsal bones 0.3266254907759879 0.1432654677037161 0.8860805272366621 1.0 1.0 25 Q9UHX1,P16435,Q8WVQ1,Q969X5,Q14739,Q9UPT5,O14656,O75844 8 |
| Primitive reflex 0.3700762037585872 0.1428115206700231 0.8864390381706688 1.0 1.0 7 P17900 1 |
| Abnormal arterial physiology 0.3079407028732142 0.1423995631968501 0.886764407388932 1.0 1.0 28 P05067,Q9NWM8,Q14739,P06280,Q9Y4P3,O75844 6 |
| Hyperextensible skin 0.3627166400149191 0.1417091117518321 0.8873097774428638 1.0 1.0 16 P04062,Q8NCH0 2 |
| Elevated gamma glutamyltransferase level 0.4142538957550278 0.1414620426024423 0.8875049440640863 1.0 1.0 4 Q5XKP0 1 |
| Motor polyneuropathy 0.3694796215489889 0.1367751530708778 0.8912085240188004 1.0 1.0 9 P53007,O43819 2 |
| Premature skin wrinkling 0.3485948738130177 0.1333148004065617 0.8939444230482629 1.0 1.0 20 Q6NUK1,O75844,Q9Y487 3 |
| Central nervous system cyst 0.2986326462754938 0.1320934914489712 0.8949103438738357 1.0 1.0 46 Q9Y487,Q9UHX1,P00846,Q9UBM7,Q99757,P23786,O95202,Q96J42 8 |
| Decreased activity of mitochondrial complex iii 0.3679483226968887 0.1309471216589322 0.8958171378921822 1.0 1.0 9 Q9Y584 1 |
| Progressive inability to walk 0.3620569834521187 0.1284345188104285 0.8978051152954007 1.0 1.0 15 P00846 1 |
| Decreased number of peripheral myelinated nerve fibers 0.3652071798494227 0.1281832541950304 0.8980039519562657 1.0 1.0 13 P07196,Q8TB36,Q9NR77,O15269 4 |
| Proximal muscle weakness in lower limbs 0.3593224679744119 0.1256958667106908 0.8999726738047578 1.0 1.0 16 P50402,Q8NBL1,Q16637,P12235,Q3ZAQ7,P07196,Q9BTV4 7 |
| Abnormal pleura morphology 0.3537171544019642 0.1244310577096417 0.9009739839326452 1.0 1.0 18 P49327,Q14739,Q6NUK1,P14174,Q8NCH0,Q96L58 6 |
| Pelvic kidney 0.3658932119368824 0.1231922716078036 0.9019548453169955 1.0 1.0 9 Q9UHX1 1 |
| Limb girdle muscle weakness 0.350160408570892 0.122645888182787 0.9023875152067444 1.0 1.0 19 Q13126,P07602,O60313,P12235,P53007,Q06210,Q9NZJ7,O14979 8 |
| Abnormality of the hypothenar eminence 0.4106761565836325 0.1225471063010196 0.9024657416626698 1.0 1.0 3 Q9NRG9,Q7Z392 2 |
| Tapered finger 0.2912423982633385 0.122385874037391 0.9025934252950394 1.0 1.0 30 Q15907,Q15555,P42892,Q8NCH0,Q06136 5 |
| Perisylvian polymicrogyria 0.4096085409252633 0.1205130519142197 0.9040767410655696 1.0 1.0 3 P42345,Q9BVA1 2 |
| Skin nodule 0.3461719941315497 0.120365153987465 0.9041938937652612 1.0 1.0 20 P35637,P21912,P06280,P16615,Q13510 5 |
| Enlarged posterior fossa 0.2876971685803194 0.117214170785909 0.9066903376650624 1.0 1.0 40 Q9Y487,Q9UBM7,Q9H490,P23786,Q9NPL8,O43505,Q10713,Q96J42 8 |
| Chondrosarcoma 0.4078291814946602 0.1171617496354401 0.9067318774766612 1.0 1.0 3 O75874,Q92804 2 |
| Shallow orbits 0.3642222081935303 0.1169440018745991 0.9069044288985684 1.0 1.0 9 O75844,O75431 2 |
| Aplasia hypoplasia involving the femoral head and neck 0.3634772563782845 0.1135448941788407 0.9095985727827562 1.0 1.0 10 Q96HY6,O75431,Q96L58 3 |
| Hodgkin lymphoma 0.3603428261421023 0.1128917687512219 0.9101163621975216 1.0 1.0 6 Q9H0U3 1 |
| Abnormality of the extraocular muscles 0.556741373176817 0.1089519258497534 0.9132406208699864 1.0 1.0 2 P43243 1 |
| Limited hip movement 0.3602888970068323 0.1074052655334773 0.9144674773813926 1.0 1.0 13 O75844 1 |
| Finger swelling 0.5531839203130675 0.104398512521827 0.9168531030688356 1.0 1.0 2 Q01968 1 |
| Abnormal tricuspid valve physiology 0.3544423235148566 0.1030875155004664 0.9178935134189792 1.0 1.0 16 Q6NUK1,P53701,O75431,Q9NX14 4 |
| Abnormal clavicle morphology 0.3461480108068852 0.1021578281484476 0.918631400830713 1.0 1.0 19 Q96AY3,O75431,Q14739,O75844,Q9Y619 5 |
| Abnormal arachnoid mater morphology 0.360110369380428 0.1017915129633251 0.9189221623324456 1.0 1.0 9 Q96DA6,Q9UHX1 2 |
| Vascular skin abnormality 0.3740478509217502 0.0996642703337318 0.9206108674077896 1.0 1.0 102 Q14739,P03886,P16278,P53701,Q9Y487,P21912,Q6NUK1,P38435,Q13126,P04062,P51798,P00846,O75306,Q6UN15,P10619,O75844,Q9NX14,Q8NCH0,Q06136,Q9UBM7,Q14108,P21964,P51648,P00403 24 |
| Oral cavity bleeding 0.3560288584444055 0.0985396035093697 0.9215038259128256 1.0 1.0 6 Q6UN15 1 |
| Proximal muscle weakness in upper limbs 0.359420100713214 0.098183014169614 0.921786970019649 1.0 1.0 10 P07196,Q9BTV4,P50402 3 |
| Osteolysis involving bones of the upper limbs 0.3572859779544998 0.0978941371333793 0.9220163555164008 1.0 1.0 7 O75844 1 |
| Abnormal cartilage morphology 0.3586764121616085 0.0973165367179268 0.9224750239304602 1.0 1.0 12 Q7LGA3 1 |
| Periventricular heterotopia 0.3580024618663362 0.0966631776360286 0.9229938828357334 1.0 1.0 8 Q6NUK1,Q6ZXV5 2 |
| Low back pain 0.546780505158317 0.0965541165140136 0.9230804958867692 1.0 1.0 2 Q8WVX9 1 |
| Plagiocephaly 0.3136893334515034 0.0963775274563826 0.9232207395194504 1.0 1.0 26 Q96A33,Q10713,Q01105 3 |
| Decreased activity of the pyruvate dehydrogenase complex 0.3378617389860434 0.0963574414159792 0.9232366916176284 1.0 1.0 21 Q7KZN9,Q15526,O75306,Q9P0J0,Q96CU9 5 |
| Type i diabetes mellitus 0.358687845337991 0.0954444855135009 0.9239617830027772 1.0 1.0 10 P03886 1 |
| Aplasia hypoplasia of the skin 0.2954507209886391 0.0929875111203216 0.9259134829144272 1.0 1.0 47 Q13126,P53701,O75431,Q15392,Q6ZXV5,O95202,P10644,O75844,Q9NX14,Q8NCH0,Q9Y619 11 |
| Confusion 0.3442450683876051 0.0925697075614925 0.9262454102486296 1.0 1.0 19 P49768,P05067,P49327,Q16836,Q9UJS0,O96008,Q9Y619 7 |
| Extra axial cerebrospinal fluid accumulation 0.5421558164354445 0.0911663169363706 0.9273604386579996 1.0 1.0 2 P20700 1 |
| Babinski sign 0.3480055562301044 0.0854890165163154 0.9318726270554728 1.0 1.0 84 Q9NR77,O14773,O60313,P08247,Q9UBB4,Q15067,P51812,O60220,Q9H6K4,P35637,P21912,Q9NZJ7,P07196,Q99720,O75027,P00846,Q9NRG9,O00400,P41440,O43681,P49768,P07602,Q9UQN3,O15121,Q9Y4W6,O75298,O00483 27 |
| Eeg with generalized slow activity 0.3554774087160173 0.0851075110339416 0.932175919033577 1.0 1.0 9 O75503,P49768,Q9UQN3,Q96CW1 4 |
| Abnormality of the intrinsic pathway 0.3553371484858874 0.0840929705347072 0.9329825135493796 1.0 1.0 12 Q9Y487,P38435 2 |
| Abnormal talus morphology 0.3453717486252553 0.0835489004714371 0.9334150963228612 1.0 1.0 18 Q9UHX1,P16435,Q969X5,Q9UPT5,O14656,O75844 6 |
| Thin skin 0.3311292876738899 0.0817912016744185 0.9348127526791784 1.0 1.0 22 Q13126,O75431,P48651,Q6ZXV5,P10644,O75844,Q9Y619 7 |
| Subcutaneous nodule 0.3474081000264569 0.0810978758698519 0.9353641149358124 1.0 1.0 17 P35637,P49327,P21912,P06280,Q13510 5 |
| Gastritis 0.349077953282344 0.0806626967303036 0.9357102038053766 1.0 1.0 5 Q6PGP7 1 |
| Abnormal rib cage morphology 0.3233609180704486 0.0800874364803435 0.9361677148862988 1.0 1.0 67 O75718,P16435,Q14739,P48651,O14656,P07237,P16278,Q9Y619,Q9UHX1,Q9UM00,O95202,P51798,Q9BV10,O75431,Q8TAA9,O75844,Q96HY6,Q32P28,P54802,Q9UBM7 20 |
| Epileptic spasm 0.2998508532087605 0.0798057327734084 0.9363917647761996 1.0 1.0 51 Q9NZ01,P00846,Q9UBX3,P03886,Q01105,P13073 6 |
| Coronal craniosynostosis 0.3483152856848378 0.0785688108120673 0.9373755961904268 1.0 1.0 5 Q6NUK1,P16435 2 |
| Atrophy degeneration involving the spinal cord 0.3498306121928089 0.0785261405739728 0.9374095372497648 1.0 1.0 6 P07196,P20700,P48643 3 |
| Unconjugated hyperbilirubinemia 0.5300604766986965 0.0781495602972214 0.9377090842921794 1.0 1.0 2 P11413 1 |
| Beaking of vertebral bodies 0.352383427584534 0.0772911946941603 0.9383918955700146 1.0 1.0 8 P16278,Q9UM00 2 |
| Ophthalmoparesis 0.3258766686559976 0.0772295684079828 0.9384409196971332 1.0 1.0 69 Q15555,O60313,Q96CU9,O43819,P03886,Q10713,Q15526,P03928,P21912,P53007,P04062,P00846,O76024,O75306,Q9P0J0,P12235,Q7KZN9,P00403,O00483,Q9BPX6,Q96IX5 21 |
| Increased muscle glycogen content 0.3839857651245624 0.0769188691647556 0.9386880865945396 1.0 1.0 3 O75648,Q9BUK6 2 |
| Hamartoma of the eye 0.3522248708160237 0.0767535249882772 0.9388196233030824 1.0 1.0 8 P21912 1 |
| Sound sensitivity 0.3528945811536339 0.0759899113508911 0.9394271245662842 1.0 1.0 9 P17900 1 |
| Hyperacusis 0.3528945811536339 0.0759899113508911 0.9394271245662842 1.0 1.0 9 P17900 1 |
| Abnormal muscle glycogen content 0.3841224635101497 0.0745622059084808 0.9405630456964552 1.0 1.0 4 O75648,P13807,Q9BUK6 3 |
| Slender build 0.3528136878995029 0.0738626613078898 0.9411196666183744 1.0 1.0 10 P10644 1 |
| Delayed eruption of primary teeth 0.5254357879758222 0.0735729076825311 0.9413502292352254 1.0 1.0 2 Q8NC56 1 |
| Abnormal circulating phenylalanine concentration 0.5243685521166944 0.0725474641826972 0.9421662339959334 1.0 1.0 2 P61457 1 |
| Abnormal blood sodium concentration 0.3524312348790283 0.0724817488103854 0.9422185296012182 1.0 1.0 10 Q13423 1 |
| Cognitive impairment 0.4360570827097768 0.0717936704184643 0.9427661100976584 1.0 1.0 156 Q9BQE5,P13473,O75381,P57740,O60313,Q9Y2R0,O43819,Q9UBB4,P03886,P16278,Q10713,Q9Y619,Q9Y487,Q15526,O60220,Q9H6K4,P35637,P21912,Q9Y5Y5,Q6PGP7,Q8NHS3,O96008,P07196,Q9NZJ7,Q13510,P56589,P17900,Q99720,P04062,P05067,Q8N5K1,P00846,O76024,O75306,P49327,P12235,P50897,P06280,Q5XKP0,P40855,O15118,O43681,P49768,P07602,Q9H2C2,Q9Y287,P54802,Q14108,Q9NPL8,P21964,O75503,Q9UJS0,P10644,O95470,P00403 55 |
| Abnormality of the biliary system 0.3702768862283719 0.0698834397194725 0.9442864340903216 1.0 1.0 102 O75381,P09601,Q14739,Q10713,Q9Y5Y5,O95202,Q9NZJ7,Q13510,P56589,P04062,Q96A33,Q5XKP0,P40855,O43681,O15118,P07602,Q9UBM7,Q14108,P21964,Q9Y4P3 20 |
| Congenital nystagmus 0.3469761025500167 0.0694982563476454 0.9445930205324546 1.0 1.0 16 Q7LGA3,P00846 2 |
| Increased circulating iga level 0.3768683274021358 0.0665694617962491 0.9469244577548924 1.0 1.0 3 Q9Y5L0,P49327 2 |
| Rheumatoid factor positive 0.3768683274021353 0.0665694617962483 0.946924457754893 1.0 1.0 3 Q13546,P49327 2 |
| Abnormal facial expression 0.3030260620179109 0.0645919798146779 0.9484988705567554 1.0 1.0 27 Q9NR77 1 |
| Acanthocytosis 0.3779842160834809 0.062635216082515 0.9500569860830184 1.0 1.0 4 O14656 1 |
| Abnormal natural killer cell morphology 0.3770024919900429 0.060781903301276 0.9515329027440798 1.0 1.0 4 O00203,P33991,Q13546 3 |
| Reduced natural killer cell count 0.3770024919900429 0.060781903301276 0.9515329027440798 1.0 1.0 4 O00203,P33991,Q13546 3 |
| Laryngeal dystonia 0.5108502312344495 0.0605264732765244 0.9517363318714502 1.0 1.0 2 P04350 1 |
| Transient ischemic attack 0.3458059867321122 0.0601918047126379 0.9520028727734964 1.0 1.0 7 O75844 1 |
| Abnormality of the pharynx 0.2776631449362091 0.0594315670747889 0.952608370598101 1.0 1.0 38 Q03518,Q9BV10,Q9H0U3,P54802,P21964,P16278,Q13510 7 |
| Elevated circulating aspartate aminotransferase concentration 0.348719575652441 0.0582087075315669 0.953582384877375 1.0 1.0 11 Q9Y5Y5 1 |
| Severe hearing impairment 0.5072927783706975 0.0576523911179316 0.9540255169606062 1.0 1.0 2 P21281 1 |
| Morphological abnormality of the vestibule of the inner ear 0.5072927783706959 0.0576523911179302 0.9540255169606072 1.0 1.0 2 P62070 1 |
| Aplasia of the semicircular canal 0.5072927783706959 0.0576523911179302 0.9540255169606072 1.0 1.0 2 P62070 1 |
| Abnormality of the epiphyses of the distal phalanx of finger 0.5062255425115746 0.0568129206376814 0.9546942213827264 1.0 1.0 2 Q9Y2Q9 1 |
| Aplasia hypoplasia of the clavicles 0.347478585381171 0.0556259603218524 0.9556397831729057 1.0 1.0 13 O75844,Q9Y619 2 |
| Lipodystrophy 0.2679325929172573 0.0556010339217065 0.9556596408304934 1.0 1.0 32 Q9Y487,P50402,Q6NUK1,P42167,O75844 5 |
| Ectodermal dysplasia 0.5040910707933228 0.0551650796259591 0.9560069489747074 1.0 1.0 2 P21281 1 |
| Spoken word recognition deficit 0.373458864488313 0.0542167977529883 0.956762437696171 1.0 1.0 4 P49768 1 |
| Frontotemporal cerebral atrophy 0.373458864488313 0.0542167977529883 0.956762437696171 1.0 1.0 4 P49768 1 |
| Joint stiffness 0.2965474160620852 0.0530809240022744 0.9576674304635168 1.0 1.0 51 P50402,O76024,P16435,P54802,O75431,P51648,Q8TAA9,P16278,O75844 9 |
| Non hodgkin lymphoma 0.3430024755757787 0.0513806628623169 0.9590221932183848 1.0 1.0 7 Q9H0U3 1 |
| Spondyloepiphyseal dysplasia 0.4976876556385723 0.0504656320630526 0.9597513361325636 1.0 1.0 2 Q9NSE4 1 |
| Hyperpigmentation of the skin 0.3324204742230657 0.0503431686583079 0.9598489237479192 1.0 1.0 76 P53701,P04062,Q15555,Q8NBL1,P21912,Q14739,Q7LGA3,P51648,P16615,Q13423,P10644,O75844,Q9Y296,Q9NX14,Q06136 15 |
| Enterocolitis 0.4973319103522005 0.0502150908546396 0.9599509859622382 1.0 1.0 2 P49748 1 |
| Abnormality of the achilles tendon 0.3451575615268136 0.0494894172820626 0.9605292706524398 1.0 1.0 9 O60313,P50402 2 |
| Achilles tendon contracture 0.3451575615268136 0.0494894172820626 0.9605292706524398 1.0 1.0 9 O60313,P50402 2 |
| Intellectual disability progressive 0.345593203754997 0.0468993806478679 0.9625934217240176 1.0 1.0 11 P53701 1 |
| Abnormal stool composition 0.4891497687655728 0.0447490434781424 0.9643073417826704 1.0 1.0 2 P36551 1 |
| Increased fecal porphyrin 0.4891497687655728 0.0447490434781424 0.9643073417826704 1.0 1.0 2 P36551 1 |
| Facial asymmetry 0.2999443945042352 0.0443480206367774 0.9646269943700224 1.0 1.0 27 Q01105,Q8NCH0,O95202 3 |
| Colpocephaly 0.3405117546890072 0.0436868550973305 0.965154017326435 1.0 1.0 7 P53701 1 |
| Abnormal motor nerve conduction velocity 0.3342075714765068 0.0434472387639176 0.9653450221409472 1.0 1.0 19 Q99720,Q9NR77 2 |
| Primitive neuroectodermal tumor 0.3438222015003069 0.0403061082581476 0.9678490840522164 1.0 1.0 12 P21912 1 |
| Abnormality of bladder morphology 0.3436486861406179 0.039668573245771 0.9683573568635612 1.0 1.0 12 P16435,Q9Y4P3 2 |
| Choanal stenosis 0.3651000255751198 0.0395038046783335 0.9684887201916168 1.0 1.0 4 P16435 1 |
| Duplication of the distal phalanx of hand 0.4795446460334547 0.0390272975497956 0.9688686248906864 1.0 1.0 2 Q8WVQ1 1 |
| Respiratory failure 0.3093818074762543 0.0379575039437947 0.969721564532028 1.0 1.0 61 Q9UMS0,Q92804,Q16637,Q70HW3,O43819,Q9Y619,P53701,Q15526,P35637,Q9BT22,Q9NZJ7,Q13510,P10253,Q15165,O95292,O75306,Q5XKP0,Q9NX14,Q9H078,P07602,P23786 21 |
| Primary gonadal insufficiency 0.3357906141139736 0.0359613848521629 0.9713131494484768 1.0 1.0 6 O76024 1 |
| Abnormality of the spleen 0.3631809464320693 0.0351861075700777 0.9719313399255718 1.0 1.0 100 Q14739,P16278,Q10713,Q96J42,O95202,Q9BT22,Q9NZJ7,Q13510,P04062,P51798,Q96A33,Q9H0U3,P10619,O15118,P07602,P54802,Q15392,Q14108,P21964 19 |
| Ovarian carcinoma 0.4692280327285768 0.0336603234114694 0.9731480183610264 1.0 1.0 2 Q8WX93 1 |
| Functional intestinal obstruction 0.4692280327285768 0.0336603234114694 0.9731480183610264 1.0 1.0 2 Q8WX93 1 |
| Peritoneal abscess 0.4692280327285768 0.0336603234114694 0.9731480183610264 1.0 1.0 2 Q8WX93 1 |
| Extrahepatic cholestasis 0.4692280327285768 0.0336603234114694 0.9731480183610264 1.0 1.0 2 Q8WX93 1 |
| Hyperaldosteronism 0.4692280327285735 0.0336603234114677 0.9731480183610276 1.0 1.0 2 Q01968 1 |
| Irregular hyperpigmentation 0.2999072334789712 0.0325893185363692 0.9740020878805616 1.0 1.0 55 Q15555,Q8NBL1,P21912,Q14739,Q7LGA3,P16615,P10644,O75844,Q9Y296,Q9NX14,Q06136 11 |
| Hemoglobinuria 0.3470583499527848 0.0311280547628697 0.9751674160409752 1.0 1.0 3 Q9H0P0 1 |
| Dyspnea 0.3478695569541336 0.030724046692754 0.9754896137252698 1.0 1.0 89 Q92804,O43819,P03886,Q9Y619,P51970,P53701,Q15526,Q9UHX1,P35637,Q969X5,P53007,Q9NZJ7,Q13510,Q96L58,Q00325,Q15165,P10253,P04062,P00846,O75306,P12235,P51571,Q6UN15,P06280,O75844,Q9NX14,P07602,P23786,P10644 29 |
| Hashimoto thyroiditis 0.4589114194237071 0.0290343214412042 0.9768372175737468 1.0 1.0 2 Q96J02 1 |
| Abnormal platelet aggregation 0.3435817929459338 0.0277818296532888 0.9778361582053408 1.0 1.0 3 Q8N5K1 1 |
| Abnormal circulating iga level 0.3400173459812656 0.0272627136271397 0.9782501960217864 1.0 1.0 11 Q15904,P49327,Q9BV10 3 |
| Abnormality of the pylorus 0.2674727409192666 0.0266723669594852 0.9787210532604153 1.0 1.0 34 O75381,Q9Y5Y5,P08247,Q6ZXV5,P40855,P56589 6 |
| Prolonged bleeding following procedure 0.4493062966915841 0.0253340383456959 0.9797885239639964 1.0 1.0 2 P49257 1 |
| Recurrent abscess formation 0.340860768256214 0.0252705622355399 0.9798391543627144 1.0 1.0 3 P49768 1 |
| Inverted nipples 0.3318663477045527 0.0247776333409467 0.9802323315891652 1.0 1.0 6 P56589 1 |
| Severe demyelination of the white matter 0.446104589114209 0.0242209049487613 0.9806764032830522 1.0 1.0 2 Q9H9P8 1 |
| Increased laxity of ankles 0.4461045891142084 0.024220904948761 0.9806764032830524 1.0 1.0 2 O95140 1 |
| Inability to walk 0.3248090439981363 0.023947279463496 0.9808946615236902 1.0 1.0 73 Q99720,Q96N66,Q9NR77,O43292,O60220,O15269,P00846,P35637,P21912,P12235,O14949,P57678,O75503,Q96CU9,Q9NVI7,Q13510 16 |
| Broad femoral neck 0.4389896833867099 0.0219478045907815 0.982489591396632 1.0 1.0 2 Q8WVQ1 1 |
| Abnormal globus pallidus morphology 0.3376103772955366 0.0213555543121179 0.9829620279922168 1.0 1.0 10 O75306,Q15526,O43819,Q13057 4 |
| Variable expressivity 0.3230141963913407 0.0210091028916055 0.9832383942218486 1.0 1.0 72 O95470,Q9NR77,Q8NI60,P07602,O15121,Q70HW3,Q9H061,P03886,Q9NZJ7,Q13510,P00403,Q6P4A7 12 |
| Stomatocytosis 0.429028815368209 0.0191958608299174 0.984684859574827 1.0 1.0 2 P11166 1 |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles 0.3523585042641364 0.0191554834402043 0.9847170701481208 1.0 1.0 4 P50402 1 |
| Melanocytic nevus 0.3371712812547602 0.0175092658088398 0.9860303409337292 1.0 1.0 11 P21912,P10644 2 |
| Choroid plexus cyst 0.4219139096407089 0.0175091028569158 0.9860304709306252 1.0 1.0 2 O43175 1 |
| Barrett esophagus 0.4219139096407075 0.0175091028569152 0.9860304709306258 1.0 1.0 2 O60216 1 |
| Progressive distal muscle weakness 0.4208466737815892 0.017274640682525 0.9862175163886028 1.0 1.0 2 P40939 1 |
| Equinus calcaneus 0.4208466737815892 0.017274640682525 0.9862175163886028 1.0 1.0 2 P40939 1 |
| Focal white matter lesions 0.3237179487179484 0.0172679041495161 0.9862228905626746 1.0 1.0 5 Q9H2P0,P42345,O00584,P12235 4 |
| Erythrocyte inclusion bodies 0.4162219850587089 0.0163114702278801 0.9869859068408172 1.0 1.0 2 P11413 1 |
| Flushing 0.3332622356522871 0.0161697385203996 0.9870989774693162 1.0 1.0 8 P21912 1 |
| Posteriorly rotated ears 0.36064904428003 0.015777816347556 0.9874116462249942 1.0 1.0 100 Q15555,O75381,P16435,Q9H490,O43924,Q10713,Q9HC07,Q96J42,Q9Y619,Q9UHX1,P42892,Q9Y5Y5,Q6NUK1,O95202,P56589,P04062,P40855,Q8NCH0,Q9UBM7,Q15392,P23786,Q9Y4P3,Q7LGA3 23 |
| Megalencephaly 0.4101743151903409 0.0151747220624557 0.9878927882127032 1.0 1.0 2 P42345 1 |
| Spastic paraparetic gait 0.4094628246175822 0.0150496567755656 0.9879925644801242 1.0 1.0 2 O75787 1 |
| Cutaneous melanoma 0.4087513340448357 0.0149263519064166 0.9880909364816504 1.0 1.0 2 P11802 1 |
| Abnormal aortic valve physiology 0.2674562214217439 0.0142072320307807 0.9886646502436258 1.0 1.0 35 P04062,Q9UHX1,Q6ZXV5,Q9Y4P3,P16278,O75844 6 |
| Aplasia hypoplasia of the hallux 0.3301930441454405 0.013471577323831 0.9892515615551544 1.0 1.0 18 O95202,Q7LGA3,Q9UHX1 3 |
| Spontaneous hemolytic crises 0.3945215225898363 0.0128025490622692 0.9897853228049476 1.0 1.0 2 P11166 1 |
| Increased blood pressure 0.3104936559888513 0.0126648924343227 0.9898951479986824 1.0 1.0 64 O75844,Q9UMS0,P04062,P42892,P16435,P21912,P21964,P06280,Q9Y4P3,Q8TAA9,P10644,P03886,P28288,Q10713,P00403 15 |
| Abnormal t cell proliferation 0.3767342582710925 0.0109215604535216 0.9912860287690536 1.0 1.0 2 P17812 1 |
| Reduced antigen specific t cell proliferation 0.3767342582710925 0.0109215604535216 0.9912860287690536 1.0 1.0 2 P17812 1 |
| Abnormal length of corpus callosum 0.375667022411965 0.0108313180462548 0.9913580275337746 1.0 1.0 2 P48449 1 |
| Focal tonic seizure 0.3358235503379683 0.008740082957464 0.9930265115312428 1.0 1.0 2 Q9H936 1 |
| Thick corpus callosum 0.3191035218783475 0.0083595418608547 0.9933301282978584 1.0 1.0 2 Q15233 1 |
| Eeg with spike wave complexes 0.3348606073954477 0.0082014957314255 0.9934562265411306 1.0 1.0 13 Q96CW1,Q14108,O75503,P53007,Q9H936 5 |
| Flattened epiphysis 0.3002490217004742 0.0081168196748997 0.9935237860104652 1.0 1.0 2 Q8WVQ1 1 |
| Paroxysmal bursts of laughter 0.294557097118475 0.0080697811763175 0.9935613160730856 1.0 1.0 2 Q05086 1 |
| Reduced forced expiratory volume in one second 0.2892209178228508 0.0080337930727097 0.9935900294945464 1.0 1.0 2 Q96J02 1 |
| Anti thyroid peroxidase antibody positivity 0.2767698327997279 0.0079736654465327 0.9936380028625396 1.0 1.0 2 Q96J02 1 |
| Type 2 muscle fiber atrophy 0.3177935943060564 0.0075419178330344 0.993982477248874 1.0 1.0 3 Q9NP81,Q06210 2 |
| Renal tubular atrophy 0.3163701067615727 0.0066425081333652 0.9947000842900302 1.0 1.0 3 Q8WUM0,P57740 2 |
| Functional abnormality of male internal genitalia 0.3089026814260495 0.0062939159207508 0.9949782148148424 1.0 1.0 24 P04062,O76024,P16435,P51809,Q9Y4P3,Q13423 6 |
| Simple febrile seizure 0.3148738605767265 0.0057197534106035 0.9954363219459884 1.0 1.0 3 Q96CW1 1 |
| Hepatic encephalopathy 0.3145907473309655 0.0055477368976424 0.9955735690876476 1.0 1.0 3 Q9UJS0,P09622 2 |
| Hemiparesis 0.3340195306450015 0.0051743852428778 0.9958714563261886 1.0 1.0 13 P11166,O60313,P49327,P03886,P00403 5 |
| Productive cough 0.327242039737907 0.0048860384279809 0.9961015208864707 1.0 1.0 7 Q6UN15 1 |
| Decreased plasma carnitine 0.3330641759421793 0.0020909352745042 0.99833167624249 1.0 1.0 12 O75880,O43772,P23786,Q16836,Q4G0N4 5 |
| Megaloblastic anemia 0.3280758997106774 0.0009366284245427 0.9992526787501156 1.0 1.0 8 O76024 1 |
|
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