| Term es nes pval sidak fdr geneset_size leading_edge leading_edge_size |
| Cognitive impairment 0.5845864587319242 3.350865150912036 0.0008055952136021 0.9731360064987956 0.2778848579002752 147 Q5T440,P05067,P07602,P06280,Q99720,O75503,Q9Y487,P06865,P17900,P13473,P11166,P50897,P04080,Q9Y619,P54802,Q9NR50,Q14108,Q06787,O75306,O95831,Q969Y2,P10644,Q10713,O15118,P01889,P16278,Q13501,Q13510,P07686,P43897,P49770,P04062,P42858,Q8N0X7 34 |
| Abnormal vascular morphology 0.5162788334819725 3.257008264529774 0.0011259315468179 0.993629183808635 0.2778848579002752 182 O75844,P05067,P07602,P10619,Q15392,P48651,P42892,P06865,P34913,P17900,P10253,Q96L58,Q06787,Q7LGA3,P08236,P01130,P10644,O15118,P01889,P16278,P38571,Q9UBM7,P07686,P43897,P04062 25 |
| Abnormality of head blood vessel 0.8534022035016011 3.1314943669411752 0.0017391912246857 0.9995952681126782 0.2778848579002752 20 P17900,P01130,P07686,P07602,P10619,P48651,P16278,P06865 8 |
| Abnormal retinal artery morphology 0.8675672415157399 2.9123116833440292 0.0035876445362752 0.9999999012131072 0.2778848579002752 17 P17900,P07602,P10619,P16278,P06865 5 |
| Abnormal arterial physiology 0.7628643130106013 2.813975495194179 0.0048932958336658 0.9999999997252114 0.2778848579002752 24 O75844,P05067,P06280,Q14739 4 |
| Abnormal abdomen morphology 0.4846197320810361 2.7866192621797854 0.0053261015523655 0.9999999999609988 0.2778848579002752 190 P07602,P10619,Q15392,P15586,P10253,Q96EY8,P35610,Q9Y619,P54802,Q14108,P04066,P23786,O14936,P08236,O43772,Q15904,Q14739,P10644,Q10713,O15118,P40939,P01889,P16278,P38571,Q13510,P07686,Q16625,P43897,P04062 29 |
| Oculomotor apraxia 0.7578533023852159 2.7693949033951877 0.0056160519526577 0.9999999999894604 0.2778848579002752 23 P05067,Q10713,O43924,O14773 4 |
| Unusual infection 0.4693580266362203 2.7616327015276747 0.0057513139150171 0.9999999999942764 0.2778848579002752 163 P07602,Q13432,P02786,P15586,Q13363,P10253,P54802,Q06787,P13051,P04066,P08236,P53634,Q15904,Q14739,P10644,Q8TAA9,P01889,P16278,Q13510,Q9UBM7,P04062 21 |
| Abnormal tissue metabolite concentration 0.8576115948421643 2.725966730473457 0.0064113460375074 0.9999999999997092 0.2778848579002752 14 P07602,P06280,P17900,P06865 4 |
| Progressive neurologic deterioration 0.7847090265695291 2.683162947860457 0.0072929446707412 0.9999999999999946 0.2778848579002752 19 P07686,P07602,Q10713,P54802,P16278 5 |
| Postaxial polydactyly 0.8174186851368785 2.6713651533020313 0.0075543418236776 0.9999999999999984 0.2778848579002752 17 Q10713,O43924,Q15125,Q14739 4 |
| Abnormality of corneal stroma 0.8451303633922584 2.6690440616825977 0.0076067470633502 0.9999999999999988 0.2778848579002752 14 P34913,P01130,Q16625,O43505,P10619,P04062,P16278 7 |
| Abnormal circulating cholesterol concentration 0.7160066439106688 2.665053945155528 0.007697597374852 0.9999999999999992 0.2778848579002752 30 Q9UBM7,P34913,P01130,Q15904,Q14739,P07602,Q10471,Q15392,P38571,Q15125,P37268 11 |
| Loss of speech 0.8117245214729748 2.643555941074673 0.0082040207689386 1.0 0.2778848579002752 17 P07602,P17900,P50897 3 |
| Abnormal retinal morphology 0.4660580734119772 2.639617696862375 0.0082999597447832 1.0 0.2778848579002752 174 O43924,P07602,P04439,O14773,P10619,O75503,Q13432,Q9Y487,Q13363,P06865,Q8N2K0,P17900,P50897,Q9Y619,Q9NX14,O75306,Q7LGA3,O14936,Q10713,O43505,P40939,P01889,P16278,Q13510,P51648,Q8NCH0,P07686,P04062,P42858 29 |
| Cerebral calcification 0.7118280669982401 2.6188728725272017 0.008822081782708 1.0 0.2778848579002752 29 P53634,P05067,P23786,O00584 4 |
| Increased bone mineral density 0.7323360214315372 2.612981145788308 0.0089756253630914 1.0 0.2778848579002752 22 Q14739,P54802,Q14108,Q15392,P48651,P04062,Q15125 7 |
| Arteriosclerosis 0.8303567180297525 2.6011460540149884 0.009291288760421 1.0 0.2778848579002752 14 O75844,P34913,P01130,O15118,P38571,P16278 6 |
| Clumsiness 0.7684463421932138 2.599072115642367 0.0093476133233978 1.0 0.2778848579002752 19 P07602,O14773,O75503,Q13501,P42858,Q05086,Q13510 7 |
| Abnormal enzyme coenzyme activity 0.4809530550896341 2.578625830445139 0.0099194165694671 1.0 0.2778848579002752 154 P07602,P10619,P10253,Q96EY8,P05091,Q9Y619,P23786,O43772,Q15904,Q14739,Q10713,O15118,O43505,P40939,P01889,P16278,P38571,Q13501,Q13510,P07686,Q16625,P04062,Q5JRX3 23 |
| Disproportionate short stature 0.7641740126404978 2.576840052152334 0.0099708076926401 1.0 0.2778848579002752 19 Q9UBM7,P10644,Q14739,Q15392,P16278,Q15125,Q7LGA3 7 |
| Ventricular hypertrophy 0.7003008059777265 2.5705254080741384 0.0101544377664093 1.0 0.2778848579002752 33 O75844,Q969Y2,P10253,O43772,Q13642,O75431,P06280,O00170,Q07021,O75208,P40939,P23786 12 |
| Abnormal cellular phenotype 0.4534752909303554 2.5520719649732087 0.0107084397718979 1.0 0.2843257923198204 162 Q5T440,O75844,P07602,O14773,O75503,P02786,P15586,P11166,Q9NX14,Q14108,Q06787,O75306,P13051,P23786,O43772,Q969Y2,Q15904,Q9HA77,Q14739,Q70HW3,P40939,Q13501,P35637,Q13510,O95453,P13073,Q4J6C6,Q92643,P43897,P04062 30 |
| Tissue ischemia 0.790867460639204 2.540892458708474 0.0110569923065761 1.0 0.2843257923198204 17 O75844,P05067,P06280 3 |
| Cardiomegaly 0.690113906722465 2.5084656728138897 0.0121256749166256 1.0 0.2894682394990206 33 P10253,P13473,P07686,Q14739,P54802,P04066,P23786 7 |
| Abnormality of the wrist 0.7052632589366968 2.5062368992806583 0.0122023833176887 1.0 0.2897581816390852 25 O75844,Q96L58,P16278,Q15125,O95831 5 |
| Cherry red spot of the macula 0.9165111069807408 2.4984492113641843 0.0124738015309584 1.0 0.2914740979495578 9 P17900,P07602,P10619,P16278,P06865 5 |
| Abnormal conjunctiva morphology 0.700669390567847 2.4797076347219233 0.0131490148500135 1.0 0.3010856053411259 25 Q14739,P06280,P10619,P02786,P04066 5 |
| Hypopigmented skin patches 0.7066241876591008 2.469039085859859 0.0135476419966904 1.0 0.3072125204465504 22 P07602,Q8IZA0,Q15125 3 |
| Aplasia hypoplasia involving the vertebral column 0.8011613100375243 2.4652858738495476 0.013690397524356 1.0 0.3072125204465504 14 Q14739,O95831,Q8TAA9,P16278,P04066,P08236 6 |
| Mucosal telangiectasiae 0.905177310639683 2.453785549938966 0.0141361255657843 1.0 0.3107671702317623 9 P06280,Q8IZA0,P10619 3 |
| Disproportionate short limb short stature 0.7903746966769003 2.450669306291792 0.0142590887004798 1.0 0.3107671702317623 15 Q9UBM7,P10644,Q14739,Q15392,Q15125,Q7LGA3 6 |
| Submucous cleft of soft and hard palate 0.7052047753567247 2.447935122558966 0.0143677523963476 1.0 0.3107671702317623 21 O75844,P36507,Q9Y619,O43505,Q15392,P48651,Q7LGA3 7 |
| Abnormal vascular physiology 0.6904174385869916 2.430486581135665 0.0150785644000088 1.0 0.3107671702317623 41 O75844,P05067,Q14739,P06280,Q14108,P01889,Q8IZA0 7 |
| Ectopic calcification 0.7006033603943586 2.4230671297992665 0.0153900824550257 1.0 0.3139576820825245 52 P53634,O75844,P05067,Q9UBM7,P01130,Q16625,O00584,Q14739,P10644,P04062,P38571,Q15125,P23786,P08236 14 |
| Limb ataxia 0.696924943585137 2.4141049506734684 0.0157739180575946 1.0 0.3203318744003836 22 P04080,Q10713,O14773,Q14108,P04062,Q13501,Q9BUK6,Q8IV08 8 |
| Paresthesia 0.6901553959413552 2.4033568164554335 0.0162453274825256 1.0 0.3284190528899771 24 P54802,P05067,P06280 3 |
| Left ventricular hypertrophy 0.7138387566773355 2.399845916954839 0.0164019743602037 1.0 0.3300989279309165 20 Q969Y2,P10253,O75431,O00170,P06280,Q07021,O75208,P40939 8 |
| Periventricular white matter hyperintensities 0.889928687836596 2.393303303314424 0.0166974316173997 1.0 0.3329412190132385 9 P07602,O75503 2 |
| Abnormal liver morphology 0.461700915729501 2.389590723932434 0.0168671574037473 1.0 0.3334793058502997 203 P07602,P10619,P15586,P11717,P10253,P35610,Q9Y619,P54802,Q14108,P04066,P23786,P08236,P53634,O43772,P01130,Q15904,Q14739,Q10713,O15118,P16278,P07686,Q16625,P43897 23 |
| Abnormal visual electrophysiology 0.6879105712724162 2.382902562069109 0.0171767400946718 1.0 0.3362116669941091 45 P07602,O43924,O14773,O75503 4 |
| Abnormal large intestine physiology 0.7417814633183394 2.37373220142308 0.0176093169766424 1.0 0.3362116669941091 18 P07602,P06280,Q8TAA9 3 |
| Abnormal pattern of respiration 0.4388402251267111 2.3638133442941704 0.0180879232626978 1.0 0.3362116669941091 160 O75844,O43924,P07602,P06280,P51114,P10253,Q96EY8,P35610,Q96L58,Q9Y619,O95831,P23786,O14936,O43772,P01130,Q969Y2,P10644,Q15165,Q10713,P01889,Q13501,Q13510,P04062 23 |
| Muscle stiffness 0.7626651495772505 2.3557402896282196 0.0184858368846589 1.0 0.3362116669941091 16 P07602,Q15392 2 |
| Dysostosis multiplex 0.9624997729187504 2.353925385931851 0.0185763394421305 1.0 0.3362116669941091 7 P10619,P54802,P15586,P04066,P08236 5 |
| Arthritis 0.664807801492977 2.3523850390620895 0.0186534547864378 1.0 0.3362116669941091 33 O75844,Q14739,P06280,Q14108,P10321,P01889 6 |
| Atrophy degeneration affecting the cerebrum 0.4564107232073605 2.346827569085716 0.0189340148454948 1.0 0.3395634631111237 198 Q5T440,P05067,O43924,P07602,O14773,Q96N66,O75503,P17900,P50897,Q5KU26,Q9Y619,Q06787,Q7LGA3,Q05086,P04066,O95831,O14936,O00400,Q10713,P16278,Q13501,O95453,P36507,P13073,Q16625,P04062,P42858,Q5JRX3 28 |
| Hyperintensity of cerebral white matter on mri 0.7181333791703297 2.333483865608293 0.0196227641623567 1.0 0.3494720855581631 19 P07602,P17900,O75503 3 |
| Metaphyseal widening 0.772677133840113 2.330553622289832 0.0197769094010804 1.0 0.3508251754626446 14 Q96L58,P48651,P16278,Q14739 4 |
| Aganglionic megacolon 0.8261501564783216 2.3153686277634864 0.0205927668999845 1.0 0.3638595978233494 12 Q10713,P42892 2 |
| Severe short stature 0.6811797041491245 2.312005044710335 0.020777405311658 1.0 0.3656823334851818 21 Q9Y619,P10619,Q15392,P48651,P16278 5 |
| Delayed ability to sit 0.7954100231523052 2.3014013930237116 0.0213689532583039 1.0 0.3688864935655253 13 Q10713,O60701,P10253,O14936 4 |
| Abnormal left ventricle morphology 0.6726288573557173 2.3013752496633684 0.0213704296628869 1.0 0.3688864935655253 24 Q969Y2,P10253,O75431,O00170,P06280,Q07021,O75208,P40939 8 |
| Abnormality of glycolipid metabolism 0.9473030713000438 2.2986151224886147 0.021526804060501 1.0 0.369956033553156 7 P07602,P06280,P17900,P06865 4 |
| Avascular necrosis 0.7509003773962465 2.2972742981954166 0.021603127025054 1.0 0.369956033553156 16 Q8IWS0,O75844,Q9Y619,Q14108,P04062,P01889 6 |
| Abnormal biliary tract morphology 0.6758845925998844 2.2937293308168667 0.021806050883973 1.0 0.369956033553156 22 P07602,Q14108,Q10713,Q14739 4 |
| Urinary glycosaminoglycan excretion 0.9597199507267972 2.293059982067785 0.0218445518920646 1.0 0.369956033553156 6 P54802,P04066,P08236,P15586 4 |
| Enlarged thorax 0.7931206595512948 2.290944278102644 0.0219666366375372 1.0 0.3704415382968697 13 O75844,P04066,P08236,Q14739 4 |
| Proportionate short stature 0.6507631157388519 2.289462043601364 0.0220525208311839 1.0 0.3704415382968697 31 Q14739,P10644,Q96L58,Q9Y619,P10619,Q15392,P48651,P16278 8 |
| Abnormal morphology of the conjunctival vasculature 0.9580267561823218 2.2869559285700647 0.0221983956152898 1.0 0.3704415382968697 6 P06280,P10619 2 |
| Progressive visual loss 0.7389638853257645 2.279855337281271 0.022616269717911 1.0 0.3739471917605926 17 O75503,O14773 2 |
| Abnormality of urine homeostasis 0.434388655013137 2.278975082863949 0.022668546529994 1.0 0.3739471917605926 163 P06280,P15586,P10253,Q96EY8,P35610,Q9Y619,P54802,Q14108,P04066,P23786,O14936,P00367,P08236,O43772,P10644,P01889,P16278,Q4J6C6,P04062 19 |
| Osteolysis 0.6651416372306649 2.2717618555911585 0.0231008978977202 1.0 0.3759720163300822 25 P53634,O75844,Q14108,P04062,Q13501 5 |
| Elevated pulmonary artery pressure 0.7217310488444211 2.2690538355406615 0.0232650522343733 1.0 0.3759720163300822 18 O75844,Q14108,P01889,Q8IZA0 4 |
| Progressive psychomotor deterioration 0.8991685272946681 2.268663132777355 0.0232888191933517 1.0 0.3759720163300822 8 P07602,Q10713,P16278 3 |
| Abnormal autonomic nervous system physiology 0.6501998756654794 2.266134451112548 0.0234431524818026 1.0 0.3771070549760937 30 P07686,P07602,P06280,P04062,P42892 5 |
| Abnormal cerebral artery morphology 0.7576639528670863 2.2586646910698125 0.0239042504198672 1.0 0.3830503547685014 14 P05067,P01130,P10253 3 |
| Increased cerebral lipofuscin 0.9788156142043086 2.257256150691056 0.0239920736117174 1.0 0.3830503547685014 5 P07602,O14773,O75503 3 |
| Psychomotor deterioration 0.8958847987969217 2.256031283279574 0.024068672024224 1.0 0.3830503547685014 8 P07602,P06865 2 |
| Ascites 0.6645481032917693 2.2539560279198736 0.0241989343980884 1.0 0.3837626062848789 24 P10644,Q14739,O15118,Q14108,P04062,P38571,Q13510,P08236 8 |
| Abnormal bone structure 0.4971595505297632 2.2388461889650855 0.0251659257627663 1.0 0.3945728456587079 145 O75844,P07602,P06280,Q15392,P48651,Q15125,Q13363,Q96L58,Q86XL3,Q9Y619,P54802,Q14108,O95831,P08236,P53634,Q14739,P10644,Q32P28,P16278,Q13501,Q13510,O95453,Q9UBM7,P04062 24 |
| Mental deterioration 0.6660355599928237 2.238639682733933 0.0251793700500035 1.0 0.3945728456587079 85 P05067,P07602,O75503,Q9Y487,P06865,P17900,P04080,P50897,P54802,Q14108,Q06787,O75306,Q9BQE5,P10644,Q10713,O15118,P16278,Q13501,P35637,Q13510,Q13057,P07686,P04062,P42858 24 |
| Diminished motivation 0.6659948801005194 2.23657443611812 0.0253141672744443 1.0 0.3945728456587079 22 P17900,P35610,Q06787,P04062,Q13501,P06865 6 |
| Abnormality of the alveolar ridges 0.9440715130821866 2.2364824963996153 0.0253201826091149 1.0 0.3945728456587079 6 P53634,Q15392,O43924 3 |
| Visual loss 0.6556026462210189 2.2190655553959666 0.0264822649701155 1.0 0.4112539971829704 40 P50897,P07602,Q10713,P04439,O14773,Q9NX14,O75503,P40939,P01889,O75306 10 |
| Rhizomelia 0.8461711602139661 2.217235571709024 0.0266069979840632 1.0 0.4117506886362834 9 Q15392,Q15125,Q14739 3 |
| Postaxial hand polydactyly 0.8285522243707 2.2152178944538616 0.0267451122145303 1.0 0.4117506886362834 10 Q10713,O43924,Q14739 3 |
| Agitation 0.6408539405330691 2.2145715976548233 0.0267894833069952 1.0 0.4117506886362834 32 P42858,P05067,Q6PJG6,P10644,P35610,Q15165,P04062,Q92804,Q13501,P35637,P42892 11 |
| Abnormality of visual evoked potentials 0.7111253085337574 2.2131731693606604 0.0268857091286427 1.0 0.4118193261752512 18 P07602 1 |
| Abnormal systemic arterial morphology 0.6114447447878973 2.2101868446784003 0.027092197598276 1.0 0.4120991891323963 112 O75844,P05067,P07602,P10619,P06865,P34913,P17900,P10253,P62140,Q96L58,Q14839,Q06787,Q7LGA3,P01130,P10644,O15118,P01889,P16278,P38571,Q13510,Q9UBM7,P07686,P04062,P42858 24 |
| Generalized abnormality of skin 0.4391697507339684 2.2100192631160103 0.0271038254248709 1.0 0.4120991891323963 182 O75844,Q06136,P06280,P10619,O15269,P48651,Q9Y487,Q15125,P37268,P11166,P04080,Q96L58,P05091,Q9NX14,Q14108,Q8IZA0,P04066,O14936,O43772,Q969Y2,Q15904,Q14739,P10644,O15118,P01889,P16278,P38571,O95453,Q9UBM7,P51648,P36507,Q8NCH0,Q16625,P04062 34 |
| Abnormal auditory evoked potentials 0.8836836253766736 2.208930901976871 0.027179447411584 1.0 0.4120991891323963 8 P07602 1 |
| Undetectable electroretinogram 0.9640684194351 2.2047578921443827 0.0274710882955244 1.0 0.4146039684547622 5 O43924,O14773 2 |
| Hypotension 0.6582834472240409 2.203928002072 0.0275294078875933 1.0 0.4146039684547622 23 O43772,P07686,P07602,P35610,P04062 5 |
| Rhabdomyolysis 0.799955431173476 2.2003900902630775 0.0277792303137938 1.0 0.4169671760812931 12 P43897,O43772,P23786 3 |
| Abnormality of skull ossification 0.8117894752132726 2.1955382321924497 0.0281250115106312 1.0 0.4197355103797238 11 P54802,O75844,Q14739 3 |
| Horizontal nystagmus 0.6588716353528237 2.195179691335409 0.0281507104777845 1.0 0.4197355103797238 22 P07602,P04062,O14773,Q9H061 4 |
| Abnormal oral frenulum morphology 0.7712553518365148 2.190421713551933 0.0284936666979054 1.0 0.4234423050999985 13 O75844 1 |
| Supranuclear gaze palsy 0.736126191014148 2.186429033127899 0.0287842314431694 1.0 0.4263486162275394 15 P07602,P04062,O15118,Q99720 4 |
| Aspiration 0.8363711400354481 2.1772922295097805 0.0294587705886462 1.0 0.4302200291252342 9 P06865 1 |
| Stroke 0.6468001156969034 2.176974848588314 0.0294824440852849 1.0 0.4302200291252342 26 O75844,P05067 2 |
| Nephropathy 0.7034732198280744 2.1726354731046063 0.0298077638365961 1.0 0.4302200291252342 18 P06280,Q14108 2 |
| Corneal opacity 0.6582250239971019 2.1700029259305933 0.0300066242921952 1.0 0.4302200291252342 48 O75844,P34913,Q9UBM7,P01130,P51648,Q16625,P06280,P10619,O43505,P04062,P16278,P04066,P08236 13 |
| Abnormal location of ears 0.4436828382991465 2.1668671377392448 0.0302449863475364 1.0 0.4302200291252342 198 O75844,O43924,P62266,Q15392,Q9Y487,Q15125,P15586,P42892,Q13363,Q15022,P37268,P62140,Q96L58,P11233,Q9Y619,Q7LGA3,O95831,P23786,Q14739,Q10713,O43505,P16278,Q9UBM7,P36507,Q8NCH0,Q16625,Q4J6C6,Q10471,P04062,Q8N0X7 30 |
| Platyspondyly 0.6394782059360679 2.1639844819840666 0.0304655403868425 1.0 0.4302200291252342 28 Q14739,Q32P28,Q96L58,P04066,P16278,O95831,P08236 7 |
| Exaggerated startle response 0.8326076611522478 2.1619032746103475 0.0306256325506666 1.0 0.4302200291252342 9 P17900,P06865,P16278 3 |
| Abnormal electroretinogram 0.6300327659844935 2.159081142167175 0.0308438723896655 1.0 0.4302200291252342 31 O43924,O14773 2 |
| Neuronal loss in central nervous system 0.790182135648654 2.157095418059324 0.030998230555207 1.0 0.4302200291252342 12 P42858,P07602,O15118,P04062,P35637 5 |
| Abnormal cardiac ventricular function 0.7302043578847675 2.1570894667204787 0.0309986941710265 1.0 0.4302200291252342 15 O75844,P10253,P01130 3 |
| Hallucinations 0.6437103960666137 2.1527166544907614 0.0313409537876283 1.0 0.4302200291252342 39 P42858,P05067,P50897,P07602,O75503,P04062,Q13501,P35637,Q9BQE5,Q8N0X7 10 |
| Abnormal retinal vascular morphology 0.6476592462891586 2.1491428732779485 0.0316230760778395 1.0 0.4302200291252342 42 P17900,P07686,P07602,P10619,P16278,P06865 6 |
| Bulbar signs 0.8123362592824184 2.14700607049582 0.0317927983368331 1.0 0.4302200291252342 10 P07602,P04062 2 |
| Thoracic kyphosis 0.7343105668905133 2.145634664652819 0.031902137542136 1.0 0.4302200291252342 14 P51648,P04062,Q9UPP1,P08236 4 |
| Hepatomegaly 0.4890129479817766 2.142263823423353 0.0321722582120509 1.0 0.4302200291252342 145 P07602,P15586,P10253,Q96EY8,P35610,Q9Y619,P54802,Q14108,P04066,P23786,P08236,O43772,Q15904,Q14739,Q10713,O15118,P40939,P38571,P16278,Q13510,P07686,Q16625,P43897,P04062 24 |
| Ambiguous genitalia 0.6668056559820347 2.1383753693829575 0.0324862898864486 1.0 0.4302200291252342 20 Q9UBM7,P51809,Q8TAA9,Q14839,Q15392 5 |
| Telangiectasia of the skin 0.7313393129129432 2.13114878280138 0.0330768868995614 1.0 0.4366149070742112 14 P06280,Q8IZA0,Q14739 3 |
| Sepsis 0.7170329941696085 2.1267440047599835 0.0334413590991131 1.0 0.4373687863253805 16 P42892,P02786 2 |
| Dementia 0.6553264562937654 2.1261835656601775 0.0334879779582522 1.0 0.4373687863253805 52 P05067,P17900,P07602,O15118,Q14108,Q06787,P04062,Q9Y487,Q13501,P42858,Q13510,P06865 12 |
| Abnormal aortic valve physiology 0.6285776181950828 2.124123718753414 0.0336597996407586 1.0 0.4373687863253805 33 O75844,P01130,P01889,P16278,Q15125 5 |
| Abnormal saccadic eye movements 0.6791870980356457 2.1221681917192066 0.0338236166244287 1.0 0.4373687863253805 19 Q10713,O14773,Q8IV08 3 |
| Splenomegaly 0.6554017655519909 2.11835062760958 0.0341453839260095 1.0 0.4373687863253805 79 P07602,Q15392,P15586,P10253,P54802,Q14108,P04066,O14936,P08236,Q15904,Q14739,Q10713,O15118,P01889,P16278,P38571,Q13510,Q16625,P04062 19 |
| Hepatitis 0.6778685439787323 2.1149261051315165 0.0344362458537383 1.0 0.4373687863253805 19 P11717,Q9Y619 2 |
| Postaxial foot polydactyly 0.897187345305073 2.113642290887209 0.0345458308922137 1.0 0.4373687863253805 7 Q10713,O43924,Q14739 3 |
| Abnormality of the 5th toe 0.897187345305073 2.113642290887209 0.0345458308922137 1.0 0.4373687863253805 7 Q10713,O43924,Q14739 3 |
| Abnormality of the vasculature of the eye 0.6590396534544485 2.11360406818444 0.0345490981035785 1.0 0.4373687863253805 63 P17900,P07686,Q14739,P07602,P06280,P10619,P01889,P02786,P16278,P04066,P06865 11 |
| Airway obstruction 0.7267108896205555 2.1085365197502046 0.0349846072895478 1.0 0.4373687863253805 14 O75844 1 |
| Osteoarthritis 0.8562749198881225 2.102180161288538 0.0355374969642352 1.0 0.4373687863253805 8 O75844,Q14108,P01889 3 |
| Macular degeneration 0.752236266239551 2.102030812532118 0.0355505767652044 1.0 0.4373687863253805 13 P04062,P51648,P04439,P50897 4 |
| Unusual infection by anatomical site 0.8012592825460569 2.1001022257441253 0.0357198495791524 1.0 0.4373687863253805 10 P02786,Q8TAA9,Q14739 3 |
| Localized skin lesion 0.431886270586591 2.099463887209499 0.035776028017515 1.0 0.4373687863253805 183 O75844,Q06136,P07602,P06280,Q15392,P48651,O15269,Q15125,Q13363,Q15022,P34913,P62140,Q96L58,Q9Y619,Q06787,Q7LGA3,Q8IZA0,P53634,P01130,Q14739,P10644,Q8TAA9,Q92542,P01889,Q13510,O95453,P36507,Q8NCH0,O75874,P04062,P42858 31 |
| Pain 0.4630347173591632 2.098480947358728 0.0358626812316711 1.0 0.4373687863253805 150 O75844,Q01844,P07602,P06280,O15269,P42892,Q14108,Q06787,Q92804,Q9BUK6,P23786,O14936,Q9NR77,P01130,Q9HA77,Q14739,Q15165,P10644,Q8TAA9,Q70HW3,P52565,P40939,P01889,Q27J81,Q13501,P35637,Q13510,P07686,O75874,P04062 30 |
| Abnormal urine carbohydrate level 0.7994929478254508 2.0925998436734066 0.0363848905418731 1.0 0.4415224396172952 10 P04066,P10253 2 |
| Hand polydactyly 0.632656314112432 2.091181022112922 0.0365118398753652 1.0 0.4415224396172952 26 Q9UBM7,O43924,Q14739,Q10713,Q15125,Q13363 6 |
| Fasciculations 0.6218222248538654 2.0809345371074204 0.0374398983839365 1.0 0.4415224396172952 33 P07686,P07602,P06280,Q13501,P51114,O95831 6 |
| Abnormal sacrum morphology 0.6258771646572555 2.079882918992587 0.0375362730995956 1.0 0.4415224396172952 28 Q14739,Q8TAA9,P01889,Q15125,P04066 5 |
| Abnormality of pulmonary circulation 0.6390543284741033 2.0790143059592645 0.0376160355789898 1.0 0.4415224396172952 22 O75844,Q14108,Q8IZA0,P01889 4 |
| Diffuse cerebral atrophy 0.7139260083898967 2.075938231084974 0.0378996642264941 1.0 0.4415224396172952 15 Q9HA77,P07602,Q10713,Q06787,P16278,O14936 6 |
| Parkinsonism 0.6268408859680659 2.070276021392494 0.0384265037403173 1.0 0.4415224396172952 27 P05067,Q13057,P07602,Q99720,Q06787,P04062,Q13501,P35637 8 |
| Spastic tetraparesis 0.6372626979109617 2.068439614763665 0.0385987033354764 1.0 0.4415224396172952 22 P07602 1 |
| Macroglossia 0.6232664198688841 2.063652452852269 0.0390506805071682 1.0 0.443694820547268 28 P10253,P07686,Q10713,P16278,Q7LGA3,P04066 6 |
| Heterogeneous 0.6253141918307924 2.0555541808305735 0.0398255081297389 1.0 0.4513557588037081 37 P53634,O75844,P05067,Q14126,Q9Y619,P01889,P11717,P00367 8 |
| Beaking of vertebral bodies 0.8440953035460694 2.0543266864727054 0.0399440835267534 1.0 0.451559312010251 8 P04066,P16278,P08236 3 |
| Cerebral inclusion bodies 0.7667487403802882 2.052415608157189 0.040129288935619 1.0 0.4525131877966291 12 P05067,O15118 2 |
| Abnormal lower limb bone morphology 0.5391488700038856 2.046419227621029 0.0407151419254787 1.0 0.4569912254032122 130 O75844,O43924,P07602,P06280,Q15392,Q15125,Q13363,Q96L58,Q9Y619,Q06787,Q7LGA3,P04066,O95831,O14936,P08236,Q8IWS0,Q14739,Q32P28,P10644,Q10713,O43505,P40939,P16278,Q13510,Q9UBM7,P13073,Q10471,P04062,P42858 29 |
| Lower limb hyperreflexia 0.7012732331028811 2.046267537478502 0.0407300557400367 1.0 0.4569912254032122 16 Q05086,P13073,O00400,Q14739 4 |
| Inappropriate behavior 0.7008581989766638 2.044138616887362 0.040939855132569 1.0 0.4581996753989272 16 P07602,Q05086,P17900 3 |
| Opisthotonus 0.6307670115895411 2.0410433305038542 0.0412465203582919 1.0 0.4593741435565587 23 P07602,P04062,Q99720,P11117 4 |
| Eeg with spike wave complexes 0.7642126762171879 2.0410132981622575 0.0412495053149049 1.0 0.4593741435565587 12 O75503,Q14108,P11166,O14936 4 |
| Ovoid vertebral bodies 0.8763271846453475 2.035497182097534 0.0418008717997657 1.0 0.4630033810950895 7 P54802,P16278,P15586 3 |
| Hypokinesia 0.7819062373108111 2.0175570993402316 0.0436374086527115 1.0 0.4685279665870087 10 O95831,P04062,P13473 3 |
| Abnormality of the tarsal bones 0.6297712917889873 2.0139707773292788 0.0440126016707338 1.0 0.4714285353180274 21 O75844,Q15125 2 |
| Progressive gait ataxia 0.7964750932907823 2.0127641313062425 0.044139449032476 1.0 0.4716615410898866 9 P07602,O14773 2 |
| Ventricular arrhythmia 0.6124143622682642 2.0077827137401583 0.044666386538148 1.0 0.4749199676679022 34 Q969Y2,P10253,P13473,O43772,Q13642,P09493,P50402,P21912,Q9NX14,O75306,Q14126,P42892,P36551,P23786 14 |
| Memory impairment 0.6082039353519212 2.0063587883216596 0.0448179819365688 1.0 0.4749199676679022 32 P42858,P05067,P07602,Q9NR50,Q06787,P49770,P01889,Q13501,Q13144,Q9NZ08,P31483 11 |
| Abnormal fingertip morphology 0.6431942544736631 2.004201252317674 0.0450485064864922 1.0 0.4749199676679022 20 P42858,O75844,O95453,P62266,Q7LGA3 5 |
| Abnormality of the gingiva 0.6199880591378578 1.998956205279283 0.0456130925765116 1.0 0.4783365306324373 39 P53634,Q9UBM7,Q14739,P10644,Q14108,Q15392,P04062,P16278,P08236 9 |
| Biparietal narrowing 0.7931519929200319 1.998922280510569 0.0456167636164623 1.0 0.4783365306324373 9 Q9UBM7,Q10713,O43924 3 |
| Xerostomia 0.703928515274558 1.9964007418266936 0.0458903201394895 1.0 0.4800833491515832 14 Q15165,Q92804,Q13501,Q14739 4 |
| Acute coronary syndrome 0.6910390607113936 1.9936289364786848 0.0461926206631961 1.0 0.4803616066767301 16 O75844,P06280,P01130 3 |
| Bilateral talipes equinovarus 0.9641129429475456 1.993616389325345 0.0461939928927117 1.0 0.4803616066767301 4 Q15392 1 |
| Exercise induced muscle cramps 0.8777152932179781 1.9925265398753076 0.0463133162038591 1.0 0.4803616066767301 6 P13473 1 |
| Motor neuron atrophy 0.6241408119192766 1.990626779181344 0.0465219339277178 1.0 0.4803616066767301 22 Q16637,Q15165,Q99720,Q13501,Q92804,P35637,Q13510 7 |
| Abnormal metabolic brain imaging by mrs 0.7023857099529829 1.9887573283834452 0.0467279948407743 1.0 0.4803616066767301 14 P07602 1 |
| Heparan sulfate excretion in urine 0.961647126162201 1.984876003751295 0.0471582687652609 1.0 0.4803616066767301 4 P54802,P15586 2 |
| Macrogyria 0.903096037714581 1.9845444908071497 0.0471951734364692 1.0 0.4803616066767301 5 Q15392,O43505 2 |
| Transient ischemic attack 0.8626803974753963 1.9840145360863113 0.0472542194870928 1.0 0.4803616066767301 7 O75844 1 |
| Tachypnea 0.6683056935233268 1.9839776417347164 0.0472583324631712 1.0 0.4803616066767301 18 P35610,O43924,Q9Y619 3 |
| Thin skin 0.620687460962707 1.9806598039120848 0.0476294373821624 1.0 0.4803616066767301 23 O75844,Q96L58,Q9Y619,Q06787,P48651 5 |
| Ureteral duplication 0.8727303057410252 1.9739405704561763 0.0483885009028299 1.0 0.486922852134307 6 O75844,P23786 2 |
| Multifocal cerebral white matter abnormalities 0.8983146119577905 1.9670659341192032 0.0491756099625559 1.0 0.4894343170835104 5 P10253 1 |
| Micromelia 0.6511135525765815 1.966743690035178 0.0492127672781865 1.0 0.4894343170835104 19 Q9UBM7,P10644,Q15392,Q14739 4 |
| Episodic tachypnea 0.8576986290549156 1.9651507719641863 0.0493967896931533 1.0 0.4894343170835104 7 O43924 1 |
| Aortic valve stenosis 0.8573523165163891 1.9638380576524352 0.0495488750567816 1.0 0.4894343170835104 7 O75844,P16278,Q15125 3 |
| Respiratory arrest 0.8570012338836303 1.9625070792453632 0.0497034772289715 1.0 0.4894343170835104 7 P23786,O43772,P13473 3 |
| Brittle hair 0.6849733185370013 1.962290948245834 0.0497286204523352 1.0 0.4894343170835104 16 P36507,O75844,P62266 3 |
| Delusions 0.6846375856907025 1.960553409827399 0.0499311417818277 1.0 0.4903522195116916 16 P42858,P07602,P49770,Q9NR50,P04062,Q13144,Q9BQE5 7 |
| Thin ribs 0.756690930583423 1.955018753004032 0.0505808568660863 1.0 0.4956482218668027 11 O75844,O95831,Q9Y619 3 |
| Abnormal aortic valve morphology 0.5995392512068018 1.95033260638466 0.0511364887376968 1.0 0.4990567077519099 32 O75844,Q96L58,P06280,P04062,P01889,P37268 6 |
| Genu valgum 0.6117256924062029 1.9498027970671392 0.0511996280646214 1.0 0.4990567077519099 25 P36507,Q96L58,Q9Y619,P16278,Q7LGA3,Q8N0X7,P08236 7 |
| Retinal dysplasia 0.8171003968165422 1.947364385715891 0.0514910646262189 1.0 0.4991185702861141 8 Q10713,O43924 2 |
| Abnormal tracheal morphology 0.6016747000240401 1.943773307594647 0.0519227939489519 1.0 0.5009071743815637 29 Q96L58,Q9UBM7,Q15125,Q14739 4 |
| Retinal degeneration 0.6190592639150406 1.943452280622422 0.0519615357232774 1.0 0.5009071743815637 44 P51648,P50897,Q10713,P04439,O14773,O75503,P04062,Q7LGA3,Q13510 9 |
| Arterial stenosis 0.7539861955462147 1.9430475351787888 0.0520104151652871 1.0 0.5009071743815637 11 P34913,P01130 2 |
| Pedal edema 0.8641332797907522 1.9418049903102483 0.0521607125357672 1.0 0.5012789675814208 6 Q14108,P04062 2 |
| Abnormal metacarpal morphology 0.6118262869884955 1.938386118877964 0.0525761326775908 1.0 0.5026013315930865 24 O43924,P10644,Q14739,Q96L58,P16278,P08236 6 |
| Emg neuropathic changes 0.6153112134311658 1.937909416569552 0.0526342749217358 1.0 0.5026013315930865 22 Q5T440,P07602,Q13510,O14773 4 |
| Entropion 0.7782752641411476 1.9367002442886552 0.0527819958909638 1.0 0.5029418207189934 9 O75844 1 |
| Intracranial hemorrhage 0.6154230840232694 1.9290559264356404 0.0537239196622594 1.0 0.5097525400512057 21 O75844,P05067,P23786 3 |
| Abnormal chorioretinal morphology 0.6141274256389003 1.921351475854732 0.0546874116133033 1.0 0.5156241666397174 21 Q10713,P04439,Q9Y619,O43505,P40939,O14936 6 |
| Abnormal choroid morphology 0.6141274256389003 1.921351475854732 0.0546874116133033 1.0 0.5156241666397174 21 Q10713,P04439,Q9Y619,O43505,P40939,O14936 6 |
| Apraxia 0.6244003269807447 1.918303476320992 0.0550725418991566 1.0 0.5181668093153358 52 P42858,P05067,O43924,Q10713,O14773,Q9Y619,P04062,Q13501,Q7LGA3,Q05086,Q8N0X7,O14646 12 |
| Abnormal circulating non proteinogenic amino acid concentration 0.8569777813325812 1.914979003628188 0.0554951813311972 1.0 0.5193745131775431 6 P05067 1 |
| Coxa valga 0.6869063522718903 1.911724831621243 0.0559114975811354 1.0 0.5193745131775431 14 O75844,P04066,P16278,Q9Y619 4 |
| Abnormal tongue morphology 0.6271684486738196 1.9109099294184428 0.0560161568238979 1.0 0.5193745131775431 57 O75844,Q9UBM7,O43924,P10253,P07686,Q10713,P48651,P01889,P16278,Q7LGA3,P04066 11 |
| Abnormal epiphyseal ossification 0.6748249687699631 1.909630974506691 0.0561807440659281 1.0 0.5193745131775431 16 Q9UBM7,Q14739,Q96L58,Q15125,P08236 5 |
| Abnormal tongue physiology 0.6745764165002375 1.9083376519407689 0.0563475895428489 1.0 0.5193745131775431 16 P51114,O95831,P10253 3 |
| Frontotemporal dementia 0.7457983072301658 1.9067160782595227 0.0565573637882999 1.0 0.5193745131775431 11 P35637,P05067,P31483,Q13501 4 |
| Abnormal enchondral ossification 0.60437252882201 1.9046148036362949 0.0568301608481145 1.0 0.5193745131775431 25 Q9UBM7,Q14739,Q96L58,Q9Y619,Q15125,Q13363,P08236 7 |
| Abnormal coronary artery morphology 0.8538765437602154 1.9033304480086388 0.0569974402303847 1.0 0.5193745131775431 6 P34913,P01130 2 |
| Abnormal thoracic spine morphology 0.6019074386787132 1.901932032157254 0.0571800408539679 1.0 0.5193745131775431 26 O75844,P51648,Q9UPP1,P04062,P08236 5 |
| Hypoplastic vertebral bodies 0.8533503664770308 1.9013527622002244 0.0572558224446759 1.0 0.5193745131775431 6 P16278,Q8TAA9,Q14739 3 |
| Abnormal lactate dehydrogenase level 0.6787875875419103 1.8982915453132096 0.0576576870983915 1.0 0.5193745131775431 15 Q5JRX3,P10253,P23786,O43505 4 |
| Cardiovascular calcification 0.7690319092096536 1.8978318244138257 0.0577182395013886 1.0 0.5193745131775431 9 O75844,P01130 2 |
| Ventricular preexcitation 0.8791539021385492 1.8967304400837832 0.0578635240292446 1.0 0.5193745131775431 5 Q969Y2,P10253,P13473 3 |
| Clonus 0.6030055784830378 1.8961916926961149 0.0579347012748483 1.0 0.5193745131775431 25 O00400,P07602,Q99720,Q9Y619,P42858 5 |
| Poor motor coordination 0.742935376868576 1.8939803206900097 0.0582276220287998 1.0 0.5193745131775431 11 Q06787,O75503,Q10713 3 |
| Abnormality of the autonomic nervous system 0.6142011035726037 1.8935372869370952 0.0582864544699979 1.0 0.5193745131775431 46 Q9UBM7,P07686,P07602,P06280,Q10713,P04062,P42892 7 |
| Abnormal exteroceptive sensation 0.6166148366153179 1.8935350950485048 0.0582867456634457 1.0 0.5193745131775431 48 Q9NR77,P05067,Q8NCH0,P07686,P11166,P07602,P06280,P54802,Q06787,O15269,P01889,O95831,Q9NZ08 13 |
| Abnormal femoral neck head morphology 0.5964915726694747 1.8916191456655664 0.0585417431029879 1.0 0.5193745131775431 35 O75844,Q14739,Q96L58,P04066,Q9Y619,Q9Y487,P16278,Q7LGA3,O95831 9 |
| Saccadic smooth pursuit 0.934723661822829 1.889003768085651 0.058891323802483 1.0 0.5193745131775431 4 Q10713,O14773 2 |
| Breech presentation 0.8367815320654874 1.8855453216614644 0.0593562515803363 1.0 0.5213128318836582 7 Q9Y619 1 |
| Hepatosplenomegaly 0.5892178467508375 1.8831782824659664 0.0596762111717013 1.0 0.5230992885519442 32 P07686,P11166,Q14739,P10619,P04062,P38571,P16278,Q13510 8 |
| Abnormal cerebral ventricle morphology 0.4181704404236243 1.8809909741735849 0.0599731466459232 1.0 0.5237079194376116 186 O00584,P07602,Q15392,P48651,O60701,Q15125,Q9Y487,Q13363,P11166,P62140,Q96L58,Q5KU26,Q86XL3,Q14839,Q9NX14,P23786,O14936,P08236,P53634,P10644,Q10713,Q8TAA9,O43505,P16278,O95453,Q9UBM7,P36507,Q8NCH0,Q16625,P43897,P04062,P42858 32 |
| Impaired proprioception 0.592198765642661 1.8761770828693205 0.0606309678395773 1.0 0.5267450449507031 34 P54802,O14773,Q8IV08,Q9Y619 4 |
| Abnormal joint morphology 0.4350759148938846 1.875711941547824 0.0606948452663438 1.0 0.5267450449507031 225 O75844,P07602,P06280,Q15392,P48651,O15269,Q15125,Q9Y487,P42892,Q13363,Q15022,P37268,P62140,Q96L58,Q86XL3,Q9Y619,Q14108,Q7LGA3,Q8IZA0,Q05086,O95831,P23786,P08236,Q8IWS0,Q14739,P10644,Q8TAA9,P01889,P16278,Q13510,Q9UBM7,P36507,Q8NCH0,P10321,P04062,P42858,Q8N0X7 37 |
| Infantile axial hypotonia 0.8340773444300167 1.8752071737565985 0.060764227643379 1.0 0.5267450449507031 7 P07602 1 |
| Confusion 0.6681757428379974 1.8749737787335323 0.0607963309457362 1.0 0.5267450449507031 16 P05067,P11166,Q9Y619,P40939,P01889,P36551,Q9NZ08 7 |
| Abnormality of the metacarpal bones 0.5853910704052407 1.8720039808748 0.0612060527678626 1.0 0.529046515274511 31 Q9UBM7,O43924,Q14739,P10644,Q96L58,P48651,P16278,Q13363,P08236 9 |
| Acetabular dysplasia 0.7972857671776444 1.868080144608446 0.0617509006741374 1.0 0.529046515274511 8 P16278,P08236 2 |
| Abnormal atrioventricular valve physiology 0.601704038217641 1.8679170927450313 0.0617736279904106 1.0 0.529046515274511 40 O75844,P01130,Q15904,P62140,Q13642,O75431,P06280,Q96L58,P10644,Q9NX14,P40939,P01889,O75306,P04062,P09493,Q9NZ08 16 |
| Abnormal carotid artery morphology 0.7369190214032018 1.8671624787838457 0.0618789015813587 1.0 0.529046515274511 11 O75844 1 |
| Diminished movement 0.6662198959438217 1.864756474926857 0.0622155467154386 1.0 0.529046515274511 16 P51114,O95831,P04062,P13473 4 |
| Cupped ear 0.7605724152221152 1.8621219570243073 0.0625859017104337 1.0 0.529046515274511 9 Q15392 1 |
| Abnormal myocardium morphology 0.4444971099428407 1.8615508028004983 0.0626664333862574 1.0 0.529046515274511 150 O43772,P10253,P13473,P06280,P43897,Q9H061,P54802,Q14108,P01889,P16278,P15586,Q14126,P23786,P08236 14 |
| Abnormal femoral neck morphology 0.5911025978639083 1.8614233563035405 0.062684414792189 1.0 0.529046515274511 28 O75844,Q96L58,P04066,Q9Y619,Q9Y487,P16278,O95831 7 |
| Generalized muscle weakness 0.5880709034970623 1.8569017450404668 0.0633251342696672 1.0 0.5317064730687189 29 P10253,Q15165,P40939,Q92804,Q13501,P42858,O95831 7 |
| Abnormal esophagus physiology 0.414048096796753 1.8564951536422092 0.0633830131666142 1.0 0.5317064730687189 181 P05067,P07602,P06280,Q99720,O15269,P15586,Q13363,Q9Y619,Q14108,Q06787,O75306,Q05086,Q8IZA0,Q9NR77,Q9HA77,Q14739,P27635,O15118,P01889,Q13501,P35637,Q13510,Q96J02,O95453,Q9UBM7,P36507,O75874,O76024,P04062,P42858,O95352,Q8N0X7 32 |
| Decerebrate rigidity 0.9231326495185256 1.8474897432362172 0.0646761932896682 1.0 0.5394597227172876 4 P07602 1 |
| Abnormal mitral valve physiology 0.5851739562510107 1.8432313710383097 0.0652952364059071 1.0 0.5416728668941061 33 O75844,P01130,P62140,Q13642,O75431,P06280,Q96L58,Q9NX14,P40939,P01889,O75306,P04062,P09493,Q9NZ08 14 |
| Abnormal macrophage morphology 0.9208791208791208 1.839402478485325 0.0658560098542477 1.0 0.5443126560328988 4 P38571,P16278,O15118 3 |
| Coarse facial features 0.6135627068709774 1.8382490829359928 0.0660257101942662 1.0 0.5447121091026969 53 Q8IWS0,P07686,P06280,O95831,P10619,P54802,Q06787,P16278,P15586,Q7LGA3,P04066,P08236 12 |
| Bilateral cryptorchidism 0.7400312160126661 1.836404451927518 0.0662978616408049 1.0 0.5459537670530876 10 P27635,O43924,P37268 3 |
| Vertebral compression fracture 0.6654716315885589 1.8301076089363917 0.0672338493875928 1.0 0.5526474652958178 15 Q32P28,Q14108,P04062,Q14696 4 |
| Abnormal anatomic location of the heart 0.7868384841565709 1.826021604957435 0.0678470075534618 1.0 0.5566679522850764 8 O75844 1 |
| Lymphedema 0.7262939270696335 1.819624402783926 0.0688162228481765 1.0 0.5573081223369343 11 P06280,P08236,Q14739 3 |
| Hypoplasia of the odontoid process 0.8582038346818841 1.8193060962897023 0.0688647438386165 1.0 0.5573081223369343 5 P16278,P08236 2 |
| Progressive spastic quadriplegia 0.7850451750248169 1.8187847217473383 0.0689442801964408 1.0 0.5573081223369343 8 P07602 1 |
| Short palpebral fissure 0.5954109635524345 1.818058232017658 0.0690552329770057 1.0 0.5573081223369343 22 O75844,Q9Y619 2 |
| Abnormal pharynx morphology 0.5795110192300931 1.8171918083266043 0.0691877488457011 1.0 0.5573081223369343 30 P54802,Q13432,P01889,P16278,P13051,P15586,P08236 7 |
| Diabetes insipidus 0.724984649416857 1.8137510818314064 0.0697160568285317 1.0 0.5573081223369343 11 P06280 1 |
| Corneal erosion 0.9136124738040884 1.8132897170613205 0.0697871484534222 1.0 0.5573081223369343 4 P01889 1 |
| Large earlobe 0.8293180550993702 1.8106271927562752 0.0701985799522395 1.0 0.5573081223369343 6 Q15392,O60701 2 |
| Neurodegeneration 0.5830276991264312 1.810003759787228 0.0702952041181095 1.0 0.5573081223369343 28 P42858,P17900,Q15165,Q13501,Q92804,P35637,P08236 7 |
| Angina pectoris 0.9126897461276522 1.8099701263111645 0.0703004199790435 1.0 0.5573081223369343 4 O75844,P06280 2 |
| Lower limb hypertonia 0.7339440614463397 1.8097900250191017 0.0703283553910787 1.0 0.5573081223369343 10 O00400 1 |
| Abnormal heart sound 0.8548081231410745 1.8067073483089715 0.0708079213535373 1.0 0.5573081223369343 5 P10253,P01130 2 |
| Brain imaging abnormality 0.5802140565035143 1.806389819713496 0.0708574706292037 1.0 0.5573081223369343 29 P11166,P07602,P35610,Q13501,Q05086 5 |
| Abnormal ureter morphology 0.6358276205459732 1.806380846579395 0.0708588712697635 1.0 0.5573081223369343 18 Q7LGA3,O75844,P23786,Q8TAA9 4 |
| Ascending tubular aorta aneurysm 0.8546843824687004 1.8062479926674109 0.0708796114496495 1.0 0.5573081223369343 5 O75844,Q96L58,P01889 3 |
| Ankle clonus 0.7326083032200612 1.8039405265292563 0.0712406308859083 1.0 0.5573081223369343 10 P42858,P07602 2 |
| Recurrent aspiration pneumonia 0.8273242774321408 1.8030661157188204 0.0713778318722733 1.0 0.5573081223369343 6 P04062 1 |
| Abnormality of the lymphatic system 0.5245641878377117 1.7955650429189138 0.072563719641415 1.0 0.5573081223369343 127 P07602,P10619,Q15392,P15586,Q13363,P10253,P54802,Q14108,P13051,P04066,O14936,P08236,Q15904,Q14739,P10644,Q10713,O15118,P01889,P16278,P38571,Q13510,O95453,P36507,P07686,Q16625,P04062 26 |
| Sparse eyelashes 0.6526403022508578 1.793532631724167 0.0728877977013806 1.0 0.5573081223369343 16 O75844 1 |
| Abnormal metatarsal morphology 0.6062061999893487 1.7901894361051018 0.0734234627707739 1.0 0.5573081223369343 20 Q9UBM7,Q96L58,O43505,Q15392,Q13363,P08236 6 |
| Abnormality of carpal bone ossification 0.8500900879858087 1.7891803282362906 0.0735857787092315 1.0 0.5573081223369343 5 Q15125 1 |
| Biliary tract abnormality 0.5854968550267602 1.787684201365922 0.0738269720440008 1.0 0.5573081223369343 25 Q14739,P07602,Q10713,Q14108,P04062 5 |
| Abnormal thorax morphology 0.411726431032619 1.7871458531051854 0.0739139181199308 1.0 0.5573081223369343 186 O75844,P48651,Q9Y487,Q15125,P15586,Q13363,P11166,P62140,Q96L58,Q9UPP1,Q9Y619,Q14839,P54802,Q06787,Q7LGA3,P04066,O95831,P08236,Q14739,Q32P28,Q8TAA9,P16278,Q13501,Q13510,Q9UBM7,P51648,P36507,Q8NCH0,P04062,P42858 30 |
| Aplasia hypoplasia affecting bones of the axial skeleton 0.4090371201818036 1.7834701223240046 0.0745098073636605 1.0 0.5573081223369343 181 O75844,O43924,Q15392,P48651,Q15125,Q13363,P37268,Q96L58,Q86XL3,Q9Y619,Q7LGA3,P04066,O95831,O14936,P08236,Q14739,Q8TAA9,P16278,Q9UBM7,Q16625,P04062 21 |
| Abnormal larynx physiology 0.6603865886028196 1.778326154534998 0.0753503031637219 1.0 0.5573081223369343 14 Q15165,Q92804,Q13510,Q13501 4 |
| Abnormal lower motor neuron morphology 0.7406786081929206 1.7776380282503668 0.0754633238544424 1.0 0.5573081223369343 9 Q13510,Q99720,Q13501 3 |
| Impairment in personality functioning 0.4009824243205146 1.7770480362881391 0.0755603367064794 1.0 0.5573081223369343 166 P05067,P07602,P06280,Q96N66,O75503,P17900,P11166,P50897,P62140,Q9NR50,Q06787,O75306,Q92804,Q7LGA3,Q9BUK6,Q05086,P10644,Q15165,Q8TAA9,P01889,Q13501,P35637,Q13057,P31930,P49770,P04062,P42858,Q8N0X7 28 |
| Barrel shaped chest 0.9027096848296764 1.7740131062767106 0.0760609824295757 1.0 0.5573081223369343 4 P04066,Q14739 2 |
| Calcinosis 0.8452598315741362 1.771210063446949 0.0765257764145148 1.0 0.5573081223369343 5 O75844 1 |
| Duplication involving bones of the feet 0.6420480147284782 1.7710835838802153 0.0765468034471998 1.0 0.5573081223369343 17 Q9UBM7,O43924,Q14739,Q10713,Q15125 5 |
| Limb undergrowth 0.5819275447182339 1.7708762091633314 0.0765812893676385 1.0 0.5573081223369343 37 Q9UBM7,P10644,Q14739,Q15392,Q15125 5 |
| Ventricular tachycardia 0.6823675542377303 1.769869135980201 0.0767489434129518 1.0 0.5573081223369343 13 Q9NX14,Q14126,O43772,P23786 4 |
| Abnormal macular morphology 0.5843653134795195 1.7698505852472608 0.0767520344788557 1.0 0.5573081223369343 24 P04062,P51648,P04439,P50897 4 |
| Cerebellar cyst 0.5718574260659628 1.7692251795533724 0.0768563037890117 1.0 0.5573081223369343 32 P23786,Q15125,O43505 3 |
| Prenatal maternal abnormality 0.6822253979988179 1.7691818212951762 0.0768635368717018 1.0 0.5573081223369343 13 O43772,Q8TAA9,Q14739 3 |
| Abnormal endocardium morphology 0.704303573264203 1.7676052057522438 0.0771269271355956 1.0 0.5573081223369343 12 P06280,P04062,P01889 3 |
| Abnormal csf protein level 0.7720143404757582 1.7660487102983025 0.0773876771582884 1.0 0.5573081223369343 8 P07602 1 |
| Abscess 0.8171203986529401 1.764289997823453 0.0776831670910329 1.0 0.5573081223369343 6 P53634 1 |
| Abnormal sella turcica morphology 0.8169952474971353 1.7638135904249266 0.0777633686271752 1.0 0.5573081223369343 6 P08236 1 |
| Aplasia hypoplasia involving the femoral head and neck 0.7706243181520863 1.7604078952596072 0.0783386716438767 1.0 0.5573081223369343 8 P50542,O75431,Q96L58,Q14839,O95831 5 |
| Abnormal respiratory system morphology 0.4391094354487879 1.7595458137471391 0.0784848458753304 1.0 0.5573081223369343 257 O75844,P07602,P06280,Q13432,Q15392,P02786,Q15125,P15586,Q13363,P10253,Q96L58,P54802,Q14108,Q06787,P13051,Q7LGA3,Q8IZA0,P04066,P08236,P53634,Q14739,Q15165,P10644,Q8TAA9,P01889,P16278,Q13501,Q13510,O95453,Q9UBM7,P04062 31 |
| Raynaud phenomenon 0.8158020903451773 1.7592706707724506 0.0785315457202093 1.0 0.5573081223369343 6 O75844 1 |
| Foam cells 0.841692974150141 1.7579232416941826 0.0787605706468845 1.0 0.5575353959987666 5 P38571,O15118,P16278 3 |
| Paraparesis 0.5802949368074689 1.7552286389567666 0.0792202070856396 1.0 0.5599059675596071 25 Q13057,Q9Y619,P04062,Q13501,P35637,Q13510,Q8N0X7 7 |
| Epiphyseal stippling 0.7009928237023321 1.7522770297107435 0.0797261838290408 1.0 0.5625960896615334 12 Q9UBM7,P08236,Q15125,Q14739 4 |
| Vertebral hypoplasia 0.7201261951958873 1.7491209146568134 0.0802701207008835 1.0 0.565027377471536 10 P16278,Q8TAA9,Q14739 3 |
| Multifactorial inheritance 0.7200534910036022 1.7488007800379688 0.0803254619322251 1.0 0.565027377471536 10 P42892,P01889 2 |
| Abnormal circulating acetylcarnitine concentration 0.812867603355847 1.7480901593938305 0.0804484167121906 1.0 0.565027377471536 6 O43772,P23786 2 |
| Premature skin wrinkling 0.6248766041619526 1.745797781665475 0.0808460965865032 1.0 0.5669332523128537 18 O95453,P36507,Q9Y487,O75844 4 |
| Schizophrenia 0.6364577475096729 1.7409180371764084 0.0816979465474736 1.0 0.5683777538118401 17 P07602,O76024,P04062,Q9BUK6,Q9BQE5 5 |
| Meningitis 0.8109710748660257 1.7408586646542543 0.0817083557893325 1.0 0.5683777538118401 6 P02786,Q8TAA9 2 |
| Dysesthesia 0.836916437039362 1.7401082234071494 0.0818400165669801 1.0 0.5683777538118401 5 Q9NR77,Q06787,Q8NCH0 3 |
| Nonimmune hydrops fetalis 0.575626238015145 1.7372927337404505 0.0823355134746899 1.0 0.5693710084351439 26 P08708,Q9HA77,Q14739,Q07020,P61313,P10619,P62857,P04062,P46777,P18077,P62899 11 |
| Abnormality of the phalanges of the toes 0.7172431862404086 1.7364190653747775 0.0824897635826853 1.0 0.5694497829253548 10 Q7LGA3,O75844 2 |
| Hydrocephalus 0.6051838978606849 1.7357917104169238 0.0826006703842259 1.0 0.5694497829253548 63 P36507,Q9UBM7,P11166,P62140,P10644,Q96L58,Q10713,Q8TAA9,O43505,Q15392,P48651,P04062,Q15125,Q13363,P23786,P08236 16 |
| Abnormal visual fixation 0.8910447230599369 1.731866674207918 0.0832973035421615 1.0 0.5709894981236279 4 Q5KU26,P04062 2 |
| Hyperreflexia 0.414405622350697 1.7302889945385642 0.0835786548524522 1.0 0.5709894981236279 200 P07602,O14773,Q99720,Q96N66,O75503,O60701,P17900,Q5KU26,Q86XL3,Q9Y619,Q05086,O95831,O14936,O00400,Q14739,Q10713,P01889,Q13501,P07686,P13073,Q16625,P04062,P42858,Q96IX5,Q8N0X7,Q5JRX3 26 |
| Chorioretinal degeneration 0.8342836915088779 1.7302782581321845 0.0835805721340823 1.0 0.5709894981236279 5 Q9Y619 1 |
| Alkalosis 0.8895702620310544 1.726530527174294 0.08425201222561 1.0 0.5743532419813141 4 Q9Y619 1 |
| Abnormal circulating lipid concentration 0.6048453381208131 1.7256906926565427 0.0844030733657494 1.0 0.5743532419813141 67 O75844,P34913,O43772,P01130,Q15904,Q9UBM7,Q14739,P07602,P06280,Q10471,Q15392,P40939,P38571,Q15125,P23786,P37268 16 |
| Anorexia 0.5787397936347792 1.7253539098966884 0.0844637120560756 1.0 0.5743532419813141 23 P35610,P06280,Q14108,P04062,P01889 5 |
| Hypersplenism 0.7947453398243752 1.7236831993285062 0.0847650496043241 1.0 0.5744470049658873 7 P07602,Q14108,P04062 3 |
| Broad ribs 0.8886363129950421 1.7231495217194486 0.0848614893699606 1.0 0.5744470049658873 4 P16278 1 |
| Orthostatic hypotension 0.6492626999579736 1.7218546469442046 0.0850958524039204 1.0 0.574664298600994 14 P07602,P07686 2 |
| Glomerulopathy 0.7275618816435789 1.721557658912303 0.085149678825682 1.0 0.574664298600994 9 P06280,Q14108 2 |
| Dilated fourth ventricle 0.5682235010944583 1.717902484256466 0.0858144036346975 1.0 0.5774138583396138 34 Q9UBM7,Q10713,O43505,Q9Y487,Q15125,P23786,O14936 7 |
| Congenital ichthyosiform erythroderma 0.8045507485565632 1.7163453922336367 0.0860988449067945 1.0 0.5784035686943684 6 Q15125 1 |
| Abnormal tendon morphology 0.4044077507494053 1.7156875288479565 0.0862192485420081 1.0 0.5784035686943684 181 O75844,Q99720,Q15392,P48651,P15586,P42892,P37268,P34913,P50897,Q96L58,Q86XL3,Q9Y619,Q7LGA3,Q8IZA0,P04066,O95831,P23786,P08236,Q8IWS0,P01130,Q13510,Q8NCH0,P04062,Q8N0X7 24 |
| Chorioretinal atrophy 0.8855260439442887 1.711884456000221 0.0869179637726542 1.0 0.5808899235367203 4 Q9Y619 1 |
| Cns demyelination 0.6703393209455952 1.7115579109326948 0.0869781703691345 1.0 0.5808899235367203 13 P07602,P51648,P49770 3 |
| Bone pain 0.6182646340248728 1.7090548867202957 0.0874407830334063 1.0 0.5810300419483976 18 P10644,P07602,Q14108,P04062,Q13501 5 |
| Spastic diplegia 0.5758458321033308 1.707510579526686 0.0877271930934191 1.0 0.5815652032544536 23 P07602,P51648 2 |
| Renal agenesis 0.5791708431303975 1.7065191988569757 0.0879114548611286 1.0 0.5819271525320726 41 Q9UBM7,O43924,Q86XL3,Q8TAA9,Q15392,Q7LGA3 6 |
| Abnormal vertebral morphology 0.5894221428688826 1.705621149812942 0.088078638973299 1.0 0.5821751571607747 92 P10619,Q15125,P15586,Q13363,Q96L58,Q9Y619,P54802,Q14108,O95831,P04066,P08236,Q8IWS0,Q14739,Q32P28,P10644,Q10713,Q8TAA9,P16278,Q9UBM7,Q8NCH0,P04062 21 |
| Hemivertebrae 0.7000137287067376 1.7011041631649668 0.0889234293095344 1.0 0.5855640719673356 11 Q15125 1 |
| Abnormal midbrain morphology 0.7889281170132096 1.7010965334144752 0.0889248617686 1.0 0.5855640719673356 7 Q10713,O43924 2 |
| Mesomelia 0.8002854834463544 1.7000330367267962 0.0891247115442352 1.0 0.5856393929875958 6 Q14739 1 |
| Calcification of the aorta 0.8258527953679771 1.698749867412489 0.089366323136613 1.0 0.5863685061946191 5 P01130 1 |
| Hypoketotic hypoglycemia 0.7551495833620117 1.6974158710704157 0.08961806407992 1.0 0.5865278773115683 8 O43772,P23786 2 |
| Postural tremor 0.6282624097805272 1.696545207241137 0.0897826764066505 1.0 0.5865278773115683 17 Q9NR77,Q9HA77,O14773,Q06787,Q14108,O75306 6 |
| Flared metaphysis 0.7875135524595593 1.6955976435759252 0.0899621043513509 1.0 0.5866418336225155 7 P48651,Q14739 2 |
| Broad foot 0.7872322347518598 1.6945037651817605 0.0901695968349245 1.0 0.5866418336225155 7 Q8IWS0,Q15022,P27635,O95831 4 |
| Dysgraphia 0.6664876783964597 1.692820190586247 0.0904896982820306 1.0 0.5868753842337482 13 P05067 1 |
| Abnormal femoral head morphology 0.6385833137770565 1.6910458228887766 0.0908280512564945 1.0 0.5882197605182502 15 P50542,O75431,Q96L58,P16278,Q7LGA3,O95831 6 |
| Abnormal delivery 0.5890526664390637 1.6894236429544844 0.0911382732926884 1.0 0.5883334462935398 20 O75844,Q9Y619 2 |
| Abnormality of femur morphology 0.5909465194548302 1.6889567313969975 0.0912277221267463 1.0 0.5883334462935398 52 O75844,Q14739,Q96L58,P06280,P07602,O95831,Q9Y619,P04062,P16278,Q7LGA3,P04066 11 |
| Skin nodule 0.5883202818094568 1.6851010195157277 0.0919690829968356 1.0 0.5910346538855814 20 P34913,P01130,O75874,P06280,P11802,P01889,P35637,Q13510,Q9NZ08 9 |
| Retinal atrophy 0.5731281599906254 1.682213186900807 0.0925275079312655 1.0 0.5910346538855814 22 P51648,Q10713,P04439,P04062,Q7LGA3 5 |
| Sparse or absent eyelashes 0.5715720950050601 1.6811082265909425 0.0927418947759732 1.0 0.5910346538855814 23 O75844 1 |
| Tracheal stenosis 0.8769577421326852 1.680808047817015 0.0928002049584675 1.0 0.5910346538855814 4 Q15125 1 |
| Abnormality of the calvaria 0.4145445333546502 1.679696119469961 0.093016455196301 1.0 0.5910346538855814 208 O75844,O43924,P62266,Q15392,P48651,O60701,Q15125,P15586,Q9Y487,Q13363,O14646,P62140,Q96L58,Q9Y619,P54802,Q06787,Q05086,P04066,O95831,O14936,Q8IWS0,Q14739,Q32P28,P10644,Q10713,P16278,Q9UBM7,P36507,Q8NCH0,P13073,Q4J6C6,Q10471,P04062 33 |
| Constitutional symptom 0.412273325869219 1.6789765370656444 0.0931566165779296 1.0 0.5910346538855814 203 O75844,Q01844,P07602,P06280,Q99720,O15269,P42892,P11166,P35610,Q14108,Q06787,Q92804,Q9BUK6,P23786,O14936,Q9NR77,P01130,Q9HA77,Q14739,Q15165,P10644,Q07021,Q8TAA9,Q70HW3,P52565,P40939,P01889,Q27J81,Q13501,P35637,Q14126,Q13510,P07686,Q4J6C6,O75874,Q10471,P04062 37 |
| Abnormal emotion affect behavior 0.4071929201519806 1.6787147049130766 0.0932076586891594 1.0 0.5910346538855814 192 Q5T440,P07602,O75503,Q15125,P06865,P37268,P17900,P11166,P50897,P35610,Q5KU26,P54802,Q9NR50,Q06787,O75306,Q92804,Q05086,O95831,O14936,O43772,P10644,Q15165,Q10713,P27635,P52565,P01889,Q27J81,Q13501,P35637,Q13510,Q9UBM7,P49770,P04062,P42858,Q8N0X7 35 |
| Amyotrophic lateral sclerosis 0.6309105130522281 1.6785586701235014 0.0932380871102922 1.0 0.5910346538855814 16 Q15165,Q99720,Q92804,Q13501,P35637 5 |
| Abnormal acetabulum morphology 0.6353172435467559 1.6740334059773017 0.0941240341882521 1.0 0.5949699513195429 15 Q96L58,P16278,P08236 3 |
| Abnormal cornea morphology 0.5126052336212822 1.6727997660563685 0.0943667209559335 1.0 0.595665040295682 127 O75844,P06280,P10619,Q15125,Q13363,P34913,Q96L58,Q7LGA3,P04066,P08236,P01130,Q14739,O43505,P01889,P16278,Q13510,Q9UBM7,P51648,Q8NCH0,Q16625,Q10471,P04062,P42858 23 |
| Elevated circulating alanine aminotransferase concentration 0.7814537428172603 1.6720127116931898 0.094521815470475 1.0 0.5957665425649723 7 P10253,Q15904 2 |
| Hypohidrosis 0.7021256586669955 1.6695762321446468 0.0950032361470083 1.0 0.5957665425649723 10 P06280,P07686,O14936 3 |
| Tachycardia 0.5659465333377758 1.6652077708648727 0.095871311163727 1.0 0.5975978395872319 25 P42892,O43772,P23786 3 |
| Limb hypertonia 0.5595737711594029 1.6592386513498725 0.0970677119374789 1.0 0.6042162152224767 28 O00400,Q15125 2 |
| Dysuria 0.7455285362235672 1.6580775747794756 0.0973018095812356 1.0 0.6048345171753265 8 O76024,P01889,Q8N0X7 3 |
| Chronic diarrhea 0.5962590477788494 1.6558417023207563 0.0977538800996109 1.0 0.6064634359759864 19 P07686,Q15904,P02786 3 |
| Hyperlipidemia 0.5609060577549843 1.6554457149976551 0.0978341193508498 1.0 0.6064634359759864 27 O75844,P06280,P23786 3 |
| Generalized clonic seizure 0.8690705515852686 1.6521484704518077 0.0985042880255051 1.0 0.6097755098737477 4 P07602 1 |
| Bilateral tonic clonic seizure with generalized onset 0.7434115713480336 1.6494044384742774 0.0990648060386685 1.0 0.6124006191481326 8 Q05086,P04062,Q13510 3 |
| Myalgia 0.5578336547165514 1.64860512230511 0.0992285586602157 1.0 0.6124387536083062 34 Q14739,P06280,Q06787,P01889,P23786 5 |
| Speech apraxia 0.6193408579049803 1.648042756400873 0.0993438976441281 1.0 0.6124387536083062 17 P42858,Q8N0X7,Q9Y619,Q7LGA3 4 |
| Abnormal periventricular white matter morphology 0.55553328509189 1.6469249814652986 0.0995734663854217 1.0 0.6126242852668017 33 P07602,P17900,O75503 3 |
| Abnormality of the odontoid process 0.7863439185077817 1.6465673879228333 0.0996469982720065 1.0 0.6126242852668017 6 P16278,P08236 2 |
| Abnormality of the spleen 0.5625719608957191 1.6439012844271 0.1001965948216705 1.0 0.61434760047999 105 P07602,P10619,Q15392,P15586,Q13363,P10253,P54802,Q14108,P04066,O14936,P08236,Q15904,Q14739,Q10713,O15118,P01889,P16278,P38571,Q13510,P07686,Q16625,P04062 22 |
| Parkinsonism with favorable response to dopaminergic medication 0.7095027173611321 1.6438795785261096 0.1002010792226721 1.0 0.61434760047999 9 P07602 1 |
| Generalized hyperkeratosis 0.8108176302359975 1.642343832548923 0.1005187680256223 1.0 0.6154546124133601 5 O75844 1 |
| Osteolysis involving bones of the upper limbs 0.7736012313264348 1.6413834802729448 0.1007178368767978 1.0 0.6154940752363984 7 O75844 1 |
| Abnormal rib cage morphology 0.5908942219471732 1.6403296698952043 0.1009366397892133 1.0 0.6154940752363984 61 O75844,Q9UBM7,Q14739,Q96L58,P04066,O95831,Q9Y619,Q8TAA9,P54802,P48651,P16278,P15586,Q13363,P08236 14 |
| Scrotal hypoplasia 0.6327736515944179 1.637613211358327 0.1015024053431057 1.0 0.6177102423310101 14 Q9UBM7 1 |
| Abnormal patella morphology 0.5801976474179855 1.6370521852207407 0.1016195661000198 1.0 0.6177102423310101 20 Q15125 1 |
| Cerebral hemorrhage 0.693797749495027 1.632588235411564 0.1025556271855101 1.0 0.6184005648585531 10 P05067 1 |
| Dermal translucency 0.7067099891954117 1.6318209082259614 0.1027172194206114 1.0 0.6184005648585531 9 O75844,Q96L58,O14646 3 |
| Abnormal meningeal morphology 0.6044273536796367 1.631774581563616 0.1027269818800791 1.0 0.6184005648585531 18 Q10713,Q15904 2 |
| Abnormality of the inner ear 0.7819882622471486 1.629819110511815 0.1031397335488493 1.0 0.6188384012930959 6 Q9Y619 1 |
| Pediatric onset 0.4064895535141782 1.6271732383100084 0.1037003098025255 1.0 0.620116612641428 198 O00584,P07602,P06280,O14773,P06865,O14646,P11166,P04080,P54802,Q9NR50,O75306,O95831,P23786,Q9NR77,Q15904,O00400,Q10713,O15118,P40939,P38571,P16278,Q13510,O95453,P07686,Q92643,P49770,Q8N0X7,Q5JRX3 28 |
| Intracellular accumulation of autofluorescent lipopigment storage material 0.9941434846266471 1.62685788081575 0.1037672852258717 1.0 0.620116612641428 2 O14773 1 |
| Hypopigmentation of the skin 0.5631128825915737 1.6207980609837036 0.1050609545024774 1.0 0.6220379632527833 39 P53634,Q8IZA0,P07602,Q15125,Q05086 5 |
| Prolonged neonatal jaundice 0.6290295605689787 1.618399666704358 0.1055764938032148 1.0 0.6220379632527833 14 O15118,Q15904 2 |
| Blepharophimosis 0.5532395434671573 1.6178331705101487 0.1056985557479102 1.0 0.6220379632527833 34 Q8IWS0,O75844,Q9Y619,O60701,Q7LGA3 5 |
| Clonic seizure 0.8036657301723875 1.6154361606952057 0.1062162747052999 1.0 0.6220379632527833 5 P07602 1 |
| Relative macrocephaly 0.5545394578761523 1.6145293642489909 0.1064126528363127 1.0 0.6220379632527833 27 P42858,O75844,P62140,Q15392,P48651,Q7LGA3 6 |
| Prominent nasal bridge 0.5638623711854185 1.6142350212893637 0.1064764583327571 1.0 0.6220379632527833 40 O43924,P13073,Q10713,Q15125,P42892,O14936 6 |
| Cachexia 0.6130494542862783 1.6137192474841275 0.1065883371030993 1.0 0.6220379632527833 17 Q01844,P07602,Q99720,P04062,P38571 5 |
| Shuffling gait 0.6892205531746547 1.6122106384952428 0.1069161110391521 1.0 0.6220379632527833 10 O75844 1 |
| Central apnea 0.7341897857825544 1.6115523322228356 0.1070593906436507 1.0 0.6220379632527833 8 P07602,Q10713,P11166 3 |
| Abnormality of the ribs 0.5775469101679445 1.6110028848919735 0.1071790936612056 1.0 0.6220379632527833 50 O75844,Q9UBM7,Q14739,Q96L58,O95831,Q9Y619,Q8TAA9,P54802,P48651,P16278,P15586,Q13363 12 |
| Abnormal intraocular pressure 0.8571040517934201 1.6085742767689155 0.1077094626578243 1.0 0.6220379632527833 4 P04439 1 |
| Hypocholesterolemia 0.7651564110102783 1.608362294567722 0.1077558546031405 1.0 0.6220379632527833 7 Q9UBM7,P07602 2 |
| Thoracolumbar kyphosis 0.8015672727259531 1.607532217533246 0.1079376678443195 1.0 0.6220379632527833 5 P08236 1 |
| Telangiectasia 0.5551800370511868 1.607469455713992 0.1079514245458947 1.0 0.6220379632527833 26 P06280,Q8IZA0,P10619 3 |
| Abnormal corneal epithelium morphology 0.6175361279446223 1.607211275037031 0.1080080295144374 1.0 0.6220379632527833 16 O75844,P01889,Q14739 3 |
| Gingival overgrowth 0.5575223698586799 1.6025241472207252 0.1090397521773685 1.0 0.6242675218614355 24 Q9UBM7,P16278,Q14739,P08236 4 |
| Sensory ataxia 0.8554295084259832 1.6024683521726193 0.109052080467773 1.0 0.6242675218614355 4 P54802 1 |
| Polyhydramnios 0.565311524379024 1.6018217634803382 0.1091950290010985 1.0 0.6242895416011852 42 Q5T440,O75844,Q9UBM7,Q14739,P62140,P27635,P04062,Q15125 8 |
| Stillbirth 0.6780025182823342 1.6008668086178732 0.1094064224366082 1.0 0.6247023204777326 11 O75844,Q14739 2 |
| Orthostatic hypotension due to autonomic dysfunction 0.730907540339992 1.598052783998611 0.110031230390025 1.0 0.6274716162521378 8 P07602 1 |
| Fatigable weakness of respiratory muscles 0.6247193291119526 1.5962432294767417 0.1104344994390724 1.0 0.628174947379667 14 Q15165,Q92804,Q13501 3 |
| Thickened nuchal skin fold 0.6851281988047171 1.5939633817124432 0.1109442368199995 1.0 0.6287847660499546 10 Q15125 1 |
| Diarrhea 0.5830564835852898 1.592942805792311 0.1111730222798021 1.0 0.6287847660499546 59 P07686,Q15904,P35610,P06280,P54802,P40939,P38571,P02786,P01889,P15586,P42892 11 |
| Abnormal cardiac test 0.6196985921884256 1.5923365402172036 0.1113091068101992 1.0 0.6287847660499546 15 Q969Y2,P10253 2 |
| Primitive reflex 0.7718623880288937 1.5908056968021 0.1116533104982686 1.0 0.6287847660499546 6 P17900 1 |
| Abnormal renal tubule morphology 0.6087878597344838 1.5904149179229583 0.1117413098946955 1.0 0.6287847660499546 17 P06280 1 |
| Coronary artery atherosclerosis 0.8516338697118317 1.5886210389294544 0.1121459753703888 1.0 0.6287847660499546 4 P34913 1 |
| Abdominal distention 0.6140317278949684 1.588447083221306 0.1121852779098302 1.0 0.6287847660499546 16 P07602,P04062,P38571 3 |
| Generalized hypopigmentation of hair 0.6966428737691871 1.588253990214449 0.1122289169387922 1.0 0.6287847660499546 9 O95453,P06748,P10644,Q05086,Q9NPE3,Q9NX24 6 |
| Abnormal hand bone ossification 0.7711376361840713 1.5880093056500029 0.1122842348902051 1.0 0.6287847660499546 6 Q15125 1 |
| Obsessive compulsive trait 0.7959654704135802 1.5864136789482677 0.1126454994354881 1.0 0.6287972655055609 5 O75503 1 |
| Asymmetric septal hypertrophy 0.9827964860907764 1.5833885940270684 0.1133329210864557 1.0 0.6302433968920949 2 P15586 1 |
| Atrophy degeneration affecting the central nervous system 0.425488246503726 1.582684592136421 0.1134933718766924 1.0 0.6302433968920949 252 Q5T440,P05067,O43924,P07602,O14773,Q99720,Q96N66,O75503,P17900,P50897,Q5KU26,Q9Y619,Q06787,Q7LGA3,Q05086,P04066,O95831,O14936,P08236,O00400,Q15165,Q10713,O15118,P16278,Q13501,Q13510,O95453,P36507,P13073,Q16625,P04062,P42858,Q5JRX3 33 |
| Abnormality of the carpal bones 0.6219071212957115 1.5817659691540158 0.1137030064884798 1.0 0.6302433968920949 14 Q15125 1 |
| Abnormal circulating copper concentration 0.7935179666022684 1.5771782138403403 0.114754524431609 1.0 0.6302433968920949 5 Q15904 1 |
| Juvenile onset 0.5529417471059103 1.5764811947257154 0.1149149492728167 1.0 0.6302433968920949 37 P04080,P06280,O14773,O15118,P54802,Q9NR50,P49770,P38571,P16278,Q13510 10 |
| Anencephaly 0.6425459868880558 1.5756698017487791 0.115101920398204 1.0 0.6302433968920949 13 Q8TAA9 1 |
| Flared iliac wing 0.7918128500509557 1.570741118380424 0.1162427940357364 1.0 0.6302433968920949 5 Q96L58,P16278 2 |
| Thoracic aortic aneurysm 0.5521109938277301 1.5685039655780852 0.1167635652183376 1.0 0.6302433968920949 24 P42858,O75844,Q96L58,Q06787,P01889,Q7LGA3 6 |
| Abnormality of the ankles 0.547903037279102 1.5684638072109427 0.1167729301179114 1.0 0.6302433968920949 35 P42858,O75844,Q05086,P07602 4 |
| Impaired visuospatial constructive cognition 0.7547849995852218 1.5676972747443476 0.1169517980002687 1.0 0.6302433968920949 7 P42858,Q10713 2 |
| Ulnar deviation of the hand or of fingers of the hand 0.6791840578455283 1.5674131173444297 0.1170181598484412 1.0 0.6302433968920949 10 Q9UBM7,Q14739 2 |
| Coma 0.5434780205898193 1.5661171726533478 0.1173211885236642 1.0 0.6302433968920949 33 P05067,O43772,Q96EY8,P35610,Q9Y619,P40939,P23786,P00367 8 |
| Abnormalities of placenta or umbilical cord 0.6405954815252203 1.5660765975040591 0.1173306860816691 1.0 0.6302433968920949 13 O75844 1 |
| Abnormal cerebral cortex morphology 0.3952268818143191 1.5658469178124037 0.1173844593369937 1.0 0.6302433968920949 183 Q5T440,P05067,O43924,Q96N66,O75503,Q15392,Q9Y487,P37268,Q5KU26,Q86XL3,Q9Y619,Q06787,Q7LGA3,Q05086,P23786,O14936,Q10713,O43505,Q13501,O95453,Q9UBM7,P36507,Q16625,P04062,P42858 25 |
| Premature loss of teeth 0.6784757539168544 1.5642458177292882 0.1177598510164568 1.0 0.6302433968920949 10 O75844 1 |
| Talipes calcaneovalgus 0.7647503588118584 1.563342128495469 0.1179721442369876 1.0 0.6302433968920949 6 Q9UBM7 1 |
| Exercise intolerance 0.5465801322137638 1.5631827144779318 0.1180096246565474 1.0 0.6302433968920949 27 Q9H2D1,P23786,P13473 3 |
| Hypocalcemia 0.677946462577568 1.5618785138070372 0.1183166110448481 1.0 0.6302433968920949 10 P10644,Q4J6C6 2 |
| Increased circulating lactate dehydrogenase concentration 0.6602008975303575 1.5617060882232614 0.1183572438926385 1.0 0.6302433968920949 12 P10253,P23786,Q5JRX3 3 |
| Abnormality of hair texture 0.5624964402625894 1.5616041138003118 0.1183812797638226 1.0 0.6302433968920949 44 O75844,P36507,P04080,P62266,P54802,Q9Y487,Q15125,P15586,Q15022 9 |
| Cholestatic liver disease 0.7884413215640236 1.558006015639053 0.1192318221069048 1.0 0.631773810644379 5 Q9UBM7 1 |
| Xanthelasma 0.9754758418740856 1.5553333230132045 0.1198667049981092 1.0 0.6332484148275259 2 P34913 1 |
| Tendon xanthomatosis 0.9754758418740856 1.5553333230132045 0.1198667049981092 1.0 0.6332484148275259 2 P34913 1 |
| Ankylosis 0.786354533307232 1.5501191190798929 0.1211129279199574 1.0 0.6387248184544876 5 O75844 1 |
| Microcornea 0.5473872148348039 1.5477338871295825 0.1216863797702592 1.0 0.639034311745656 25 Q96L58,Q15125,O43505 3 |
| Vascular calcification 0.7606592768824711 1.5475220861782897 0.1217374029167257 1.0 0.639034311745656 6 P01130 1 |
| Agenesis of cerebellar vermis 0.9732796486090788 1.5469158038651287 0.1218835496555885 1.0 0.639034311745656 2 O43924 1 |
| Abnormality of the tongue 0.5803978775074576 1.5444502873654056 0.1224792856212853 1.0 0.6408645360613954 74 O75844,Q9UBM7,O43924,P10253,P07686,Q10713,O95831,P48651,P01889,P16278,Q7LGA3,P51114,Q05086,P04066 14 |
| Dyscalculia 0.6740167285922893 1.544289479306272 0.1225182201293844 1.0 0.6408645360613954 10 Q06787,Q13501 2 |
| Multiple prenatal fractures 0.7586711509469037 1.539828464505862 0.1236021715936952 1.0 0.6423484897071002 6 Q32P28,Q14739 2 |
| Triangular mouth 0.7833592626806001 1.538792708608307 0.1238549104943373 1.0 0.6423484897071002 5 Q10713,P62140 2 |
| Restlessness 0.5449815853306692 1.5354930615147333 0.1246627601257324 1.0 0.6423484897071002 36 P42858,P05067,Q6PJG6,P10644,P35610,Q15165,P04062,Q92804,Q13501,P35637,P42892 11 |
| Personality changes 0.6128974032493032 1.5352740329071428 0.1247165298025905 1.0 0.6423484897071002 14 Q13144,Q9NR50,P49770,P04062,Q13501,P42858 6 |
| Abnormal form of the vertebral bodies 0.5789686835168899 1.5328454589692464 0.1253139369292175 1.0 0.6423484897071002 71 Q9UBM7,Q14739,P10644,P04066,Q32P28,Q10713,Q96L58,O95831,Q9Y619,Q8TAA9,P54802,P16278,Q15125,P15586,Q13363,P08236 16 |
| Joint contracture of the hand 0.5500578066798447 1.5322411003553442 0.1254629496935941 1.0 0.6423484897071002 39 O75844,P42892,Q15392,Q9Y619 4 |
| Vacuolated lymphocytes 0.969253294289898 1.5314831146865289 0.1256500364412036 1.0 0.6423484897071002 2 P04066 1 |
| Sea blue histiocytosis 0.9692532942898976 1.531483114686528 0.1256500364412038 1.0 0.6423484897071002 2 O15118 1 |
| Restrictive ventilatory defect 0.6832410423492034 1.5300276384510003 0.1260098878490148 1.0 0.6423484897071002 9 P01889,P16278 2 |
| Fair hair 0.8354513209547382 1.5294795091286193 0.1261456150389461 1.0 0.6423484897071002 4 Q05086 1 |
| Abnormal involuntary eye movements 0.4186295314542376 1.5291444239161294 0.1262286445395215 1.0 0.6423484897071002 243 Q5T440,O43924,O00584,P07602,O14773,Q99720,O75503,Q15392,Q15125,Q13363,Q8IV08,Q8N2K0,P17900,P11166,P62140,Q5KU26,Q9H061,Q9NX14,Q06787,Q7LGA3,Q05086,O95831,O14936,Q8IWS0,O43772,O00400,Q10713,P01889,Q13501,Q13510,Q9UBM7,P36507,Q16625,Q10471,P04062,P42858 36 |
| Poor wound healing 0.7797066846720742 1.524971505706215 0.1272662049530795 1.0 0.6429808504045754 5 O15269,P04062,O15270 3 |
| Meningocele 0.7126478693450449 1.522707289547698 0.1278319534264145 1.0 0.6429808504045754 8 Q10713 1 |
| Abnormal oral mucosa morphology 0.5645258326545952 1.5205023151299493 0.1283847773299957 1.0 0.6429808504045754 50 P53634,Q9UBM7,Q14739,P10644,Q14108,Q15392,P01889,P16278,P04062,P08236 10 |
| Adducted thumb 0.5601312592382475 1.5175404613871095 0.129130285991132 1.0 0.6429808504045754 20 Q86XL3,Q96L58,P42892 3 |
| Hyperglycemia 0.7417936634955897 1.5165990837353875 0.1293679368785714 1.0 0.6429808504045754 7 O75844 1 |
| Eeg with polyspike wave complexes 0.7526587086737629 1.5165399730045563 0.1293828707152902 1.0 0.6429808504045754 6 Q14108,P11166 2 |
| Short ribs 0.740968513635931 1.5133478643281222 0.1301913205771616 1.0 0.6429808504045754 7 Q9Y619 1 |
| Scotoma 0.6588391435952908 1.5129452808582098 0.1302935587209481 1.0 0.6429808504045754 11 P04439,Q9H061 2 |
| Gastrointestinal obstruction 0.6294717393548704 1.5112347947691411 0.1307286402926513 1.0 0.6429808504045754 13 P42892,Q01844 2 |
| Fatigable weakness of swallowing muscles 0.6294325004242253 1.5110409556195128 0.1307780164913299 1.0 0.6429808504045754 13 Q15165,Q92804,Q13501 3 |
| Myoclonic seizure 0.5549540111837374 1.5097862310421024 0.1310979795307143 1.0 0.6430248438621267 44 P07686,P07602,Q9Y619,O75503,P04062,P16278 6 |
| Recurrent bacterial infections 0.6038584033365227 1.5089359696953666 0.131315146605933 1.0 0.643386875510292 15 P53634,Q15904 2 |
| Abnormal systemic blood pressure 0.5745142839530314 1.506399088940726 0.131964754444311 1.0 0.6458645779128329 78 O75844,O43772,P01130,P07686,P10644,P07602,P06280,P35610,Q10713,Q8TAA9,Q06787,P04062,P01889,P42892 14 |
| Abnormal atrioventricular conduction 0.6471457157352059 1.5001015613016946 0.1335880965903455 1.0 0.6509700081405764 12 P06280 1 |
| Left ventricular systolic dysfunction 0.7727745016466687 1.498713852765513 0.1339478814145582 1.0 0.6517744281874552 5 O75844 1 |
| Fatigable weakness of bulbar muscles 0.6017480479750421 1.497786024924656 0.1341888528621231 1.0 0.6517744281874552 15 Q15165,Q92804,Q13501 3 |
| Pulmonary hypoplasia 0.5387298974912272 1.4925648443150998 0.1355511315553288 1.0 0.6553111533784794 25 O75844,Q8TAA9,Q9UBM7,Q14739 4 |
| Abnormality of the external nose 0.3917193386319565 1.4921207046647058 0.1356675049824673 1.0 0.6553111533784794 186 O75844,O43924,Q15392,Q15125,P15586,P42892,Q13363,Q96L58,Q5KU26,Q9UPP1,Q06787,Q7LGA3,O95831,P23786,O14936,Q10713,P16278,Q9UBM7,Q16625,P04062 20 |
| Abnormality of the humeroradial joint 0.7454829768621708 1.4887050066781569 0.136565066032587 1.0 0.6569235882098263 6 Q96L58,P48651 2 |
| Elbow flexion contracture 0.5417467136905495 1.4881923146301614 0.1367001834719632 1.0 0.6569235882098263 22 Q96L58,P48651,P23786,P37268 4 |
| Metatarsus adductus 0.6445696434429571 1.4879143145497875 0.1367734921300583 1.0 0.6569235882098263 12 Q9UBM7,Q15392,Q13363,P08236 4 |
| Joint stiffness 0.5609297966711547 1.48731993553708 0.136930331709232 1.0 0.6569235882098263 51 O75844,Q8TAA9,P54802,P01889,P16278,P15586,P08236 7 |
| Broad based gait 0.5541778166975304 1.4818756616404454 0.138373382125549 1.0 0.6598076270265035 20 Q05086,P04062,O14773 3 |
| Occipital encephalocele 0.8222551582744108 1.4811430391618992 0.1385684610523569 1.0 0.6598076270265035 4 Q10713 1 |
| Slender long bone 0.6516003071484192 1.4795901543286 0.1389826556058961 1.0 0.660756523685659 11 Q32P28,Q96L58,Q9Y619,Q9Y487,P37268 5 |
| Heart block 0.5535628659608471 1.478186670929858 0.1393578205737611 1.0 0.6615104832107879 20 P06280,P23786 2 |
| Abnormal placenta morphology 0.7016705470948714 1.4772252222115478 0.1396152749408457 1.0 0.6616614085897735 8 O75844 1 |
| Diplopia 0.5762730525574696 1.4730391677576626 0.140740474765914 1.0 0.6627945967989738 18 O14773,P01889 2 |
| Abnormal immune system morphology 0.4720569967012371 1.4705430637492585 0.1414147314022718 1.0 0.6641047767566037 134 Q13432,P02786,Q96EY8,P35610,Q14108,P04066,O14936,P53634,Q15904,Q14739,P10644,O15118,Q8TAA9,P01889,P16278,P38571,Q14126,Q13510,P04062 19 |
| Gait ataxia 0.5677389234505712 1.470040366733084 0.1415508215382452 1.0 0.6641047767566037 62 P07602,Q10713,O14773,O15118,Q14108,Q06787,Q13501,Q05086,Q13363,Q8IV08 10 |
| Neck flexor weakness 0.8189274649606341 1.4689408641141863 0.1418488296072206 1.0 0.6641047767566037 4 Q99720 1 |
| Abnormality of the pharynx 0.5403154729076891 1.4657784807553609 0.1427086454014003 1.0 0.6651287821741824 39 P54802,Q13432,P01889,P16278,P13051,P15586,Q13510,P08236 8 |
| Esophageal stenosis 0.7393980537970325 1.4650689224567075 0.1429021145422002 1.0 0.6651287821741824 6 O95453,P01889 2 |
| Abnormality of earlobe 0.5512724813074208 1.4644389052846114 0.1430740645407613 1.0 0.6651287821741824 20 Q15392,O60701,Q7LGA3,Q8IWS0 4 |
| Progressive spasticity 0.5954323653898248 1.4643663984913091 0.143093863934983 1.0 0.6651287821741824 15 P07602 1 |
| Increased intracranial pressure 0.5897949834489167 1.4579421008616074 0.1448565027887853 1.0 0.6656148064955467 16 P07602,P01889 2 |
| Hyperorality 0.7620052373012929 1.4578588853355643 0.1448794433291114 1.0 0.6656148064955467 5 Q05086 1 |
| Oral cleft 0.4677052326475125 1.4577370062511978 0.1449130475158384 1.0 0.6656148064955467 135 Q8IWS0,O75844,Q9UBM7,P36507,O43924,Q14739,Q96L58,Q10713,Q8TAA9,Q9Y619,O43505,Q9UPP1,Q15392,P48651,Q15125,Q7LGA3,Q13363,O14936 18 |
| Retinal thinning 0.9494875549048324 1.455733157501126 0.1454664000381982 1.0 0.6656148064955467 2 P51648 1 |
| Abnormality of ocular smooth pursuit 0.5724913255362893 1.451578857268199 0.1466187410692307 1.0 0.6656148064955467 18 Q10713,O14773 2 |
| Abnormal pleura morphology 0.5606147694263091 1.449228289760935 0.1472738396365964 1.0 0.6656148064955467 19 Q96L58,P01889,Q14739,P08236 4 |
| Infection related seizure 0.5720569783448377 1.4491121264687723 0.1473062720518752 1.0 0.6656148064955467 18 Q96N66,P05067,P11166,O14936 4 |
| Microdontia 0.5335782949910742 1.4438652062615636 0.1487768955314914 1.0 0.6683790862315651 23 P28482,Q96L58,P61586,Q9Y619,Q9NPE3,Q9Y487,Q9UM00,Q15056,Q9H1A4,Q9NX24,Q7LGA3 11 |
| Osteopetrosis 0.9461932650073231 1.4431136387424706 0.148988461925174 1.0 0.668660217120181 2 Q15392 1 |
| Cyanosis 0.5706803396204303 1.4412913915389691 0.1495023782679974 1.0 0.6687959931869547 18 O75844,O43772,P04066 3 |
| Incoordination 0.5636637916199321 1.440516641192445 0.1497212853432865 1.0 0.6687959931869547 62 Q9NR77,Q13642,P07602,Q10713,P21912,O14773,P37198,Q9Y619,P27635,O75503,P40939,P04062,Q69YN2,Q13501,P42858,Q05086,Q13510 17 |
| Premature ventricular contraction 0.7324191436071337 1.4379264439575632 0.1504549256966951 1.0 0.6687959931869547 6 O43772 1 |
| Mitral valve calcification 0.8102801430384378 1.4372114486061656 0.1506579209251362 1.0 0.6687959931869547 4 O75844 1 |
| Cardiac valve calcification 0.8102801430384378 1.4372114486061656 0.1506579209251362 1.0 0.6687959931869547 4 O75844 1 |
| Spastic paraparesis 0.5584213530941203 1.4364138157508723 0.1508846241575745 1.0 0.6691405071335914 19 Q13057,P04062,Q9Y619,Q8N0X7 4 |
| Migraine 0.5686459911150195 1.4297271186590046 0.1527953537837905 1.0 0.673805628532542 18 P05067 1 |
| Flat face 0.5332883626112813 1.4295938413918348 0.1528336241465304 1.0 0.673805628532542 21 Q96L58,Q15125,P08236 3 |
| Thick lower lip vermilion 0.5274119011015614 1.4295807874417412 0.1528373729603671 1.0 0.673805628532542 35 P11166,P06280,Q9Y619,P62266,O60701,P15586,P04066 7 |
| Thoracolumbar scoliosis 0.7190862542697278 1.4269047905986805 0.1536073398142046 1.0 0.6758722951825002 7 P27635,O95352 2 |
| Bifid uvula 0.5204845997933489 1.4252070761728708 0.1540973514703936 1.0 0.6773642638581062 32 Q9Y619,O43505,P62266,Q15392,P48651 5 |
| Diffuse white matter abnormalities 0.7175550188273996 1.420841044804182 0.1553629753245715 1.0 0.6802624714699289 7 P16278,O14936 2 |
| Red eye 0.5663779990340543 1.4168249622111229 0.1565341095825339 1.0 0.6808931742540876 18 P02786,Q14739 2 |
| Abnormality of extrapyramidal motor function 0.5628748735041564 1.4166731731047226 0.1565785039138181 1.0 0.6808931742540876 68 P42858,P05067,P17900,Q13057,P11166,P07686,P07602,P35610,Q99720,Q06787,P04062,P16278,Q13501,P35637,Q96IX5,P06865 16 |
| Flaring of rib cage 0.9385065885797969 1.413679254164163 0.1574560993026792 1.0 0.6816974541462052 2 P16278 1 |
| Abnormal epidermal morphology 0.5813235053682139 1.4120519610668183 0.157934662071957 1.0 0.6816974541462052 16 O75844 1 |
| Chronic hepatic failure 0.8033334785029644 1.411703488147921 0.158037285866075 1.0 0.6816974541462052 4 Q10713 1 |
| Muscle spasm 0.5477177273390414 1.4115570789429663 0.1580804178192092 1.0 0.6816974541462052 49 Q9NR77,P13473,Q15165,P06280,P40939,P04062,Q92804,Q13501,P23786 9 |
| Abnormal clavicle morphology 0.5761304482463049 1.4104873522885168 0.1583958284184938 1.0 0.6816974541462052 17 O75844,Q9Y619,Q14739 3 |
| Short nail 0.7492910947141911 1.4095405210672354 0.1586754004251611 1.0 0.6821218363104629 5 O75844,Q96L58 2 |
| Skeletal dysplasia 0.5200205646980125 1.4074411378910825 0.1592966199207837 1.0 0.6822585039339132 33 P51648,Q14739,Q96L58,P10619,P16278 5 |
| Fat malabsorption 0.7133340803045225 1.4041170674336505 0.1602839920573044 1.0 0.6822585039339132 7 Q14739 1 |
| Infantile muscular hypotonia 0.5478073993550346 1.4034946828192068 0.1604693764463927 1.0 0.6822585039339132 50 P17900,P10253,Q969Y2,P07602,P27635,O75306,Q9Y487,P16278,Q05086,Q13510,O14936 11 |
| Abnormal umbilicus morphology 0.5363567990444678 1.4032679408812512 0.1605369543885124 1.0 0.6822585039339132 42 O75844,Q8NCH0,Q14739,Q9Y487,O14936,P08236 6 |
| Abnormality of lipoprotein cholesterol concentration 0.587306482198317 1.4023838680036225 0.160800648014018 1.0 0.6822585039339132 14 P34913,P01130,Q13642,Q10471,P38571,P37268 6 |
| Fetal ultrasound soft marker 0.6068691334034823 1.3991696910811635 0.1617621031088492 1.0 0.6822585039339132 13 Q15125 1 |
| Tonic seizure 0.540388377976547 1.398941194630071 0.1618306180103821 1.0 0.6822585039339132 20 P07602,O14936 2 |
| Aplasia hypoplasia involving the skeletal musculature 0.6827698727618473 1.398629900744583 0.1619239950589537 1.0 0.6822585039339132 8 Q9Y487,O43505 2 |
| Impaired vibratory sensation 0.5239962619422741 1.398183715237772 0.1620579056913522 1.0 0.6822585039339132 25 O00400,O14773,Q9Y619,Q06787,Q8N0X7 5 |
| Slow saccadic eye movements 0.640350631238616 1.39275540868161 0.163693766866773 1.0 0.6866183287792611 10 Q8IV08 1 |
| Neck muscle weakness 0.6050902070338171 1.3903176058238205 0.1644324539497414 1.0 0.6866183287792611 13 P07602 1 |
| Abnormality of the liver 0.4137598894735771 1.390274248750954 0.164445614412797 1.0 0.6866183287792611 255 P07602,P10619,P15586,P11717,Q13363,P10253,Q96EY8,P35610,Q9Y619,P54802,Q14108,P04066,P23786,O14936,P08236,P53634,O43772,P01130,Q15904,Q14739,P10644,Q10713,O15118,P40939,P38571,P16278,Q13510,Q9UBM7,P07686,Q16625,P43897,P04062 32 |
| Dermal atrophy 0.5199158072632546 1.3897237361283723 0.1646127841931564 1.0 0.6866183287792611 27 P53634,O75844,O95453,P10644,Q96L58,Q15392 6 |
| Thickened ribs 0.9696082021237642 1.3893960650995116 0.1647123461803554 1.0 0.6866183287792611 3 P54802,P15586 2 |
| Angiokeratoma 0.9696082021237644 1.3893960650995116 0.1647123461803554 1.0 0.6866183287792611 3 P06280,P04066 2 |
| Oligosacchariduria 0.9696082021237642 1.3893960650995116 0.1647123461803554 1.0 0.6866183287792611 3 P04066,P10253 2 |
| Prominent sternum 0.9319180087847754 1.388465675800776 0.1649952896995117 1.0 0.6866183287792611 2 P16278 1 |
| Elevated circulating aspartate aminotransferase concentration 0.6803030172262525 1.3883483836894783 0.1650309857163283 1.0 0.6866183287792611 8 P40939,Q15904 2 |
| Morphological abnormality of the pyramidal tract 0.5386097534536806 1.388213039210242 0.1650721829128152 1.0 0.6866183287792611 20 P11166,O00400,Q9Y619,Q13501,O95831 5 |
| Cough 0.5236441426567303 1.388127373267113 0.1650982625737789 1.0 0.6866183287792611 24 O95453,Q9NR77,P10644,P35610,O15269,P01889,P04062 7 |
| Abnormality of the helix 0.5164018966741305 1.3876980515559332 0.1652290095992874 1.0 0.6866183287792611 29 O75844,P36507,P62266,Q7LGA3,P23786 5 |
| Polyneuropathy 0.5839192931539979 1.3847120479301411 0.1661405336340378 1.0 0.6884216774676177 14 P07602,Q8N2K0,O95831,P04066 4 |
| Toe walking 0.5259637946985422 1.384101064192957 0.1663275111263187 1.0 0.6884216774676177 21 Q13057,Q13642,P07602,Q99720,P40939,P35637,O95831 7 |
| Dystrophic fingernails 0.6491181309223599 1.3807481998313695 0.1673563955755739 1.0 0.6903893171379561 9 O75844 1 |
| Increased blood pressure 0.5558065602053205 1.3793476953305668 0.1677875776127075 1.0 0.6903893171379561 63 O75844,P01130,P10644,P35610,P06280,Q10713,Q8TAA9,Q06787,P04062,P01889,P42892 11 |
| Hyperactive patellar reflex 0.7063822319151551 1.37654608175672 0.1686526307487632 1.0 0.6903893171379561 7 Q5T440,P13073 2 |
| Abnormal facial shape 0.4092212222780615 1.3765054373025618 0.1686652051042572 1.0 0.6903893171379561 245 O75844,O43924,O00584,P06280,P10619,Q96N66,Q9Y487,Q15125,P15586,Q13363,Q15022,P11166,Q96L58,Q9UPP1,Q14839,P54802,Q9NX14,Q06787,Q7LGA3,Q05086,P04066,O95831,O14936,P08236,Q8IWS0,P10644,Q32P28,Q10713,P16278,Q13510,P36507,Q8NCH0,P07686,Q92643,Q10471,P04062,P42858 37 |
| Upper limb undergrowth 0.6366312015859792 1.3759323482514636 0.1688425791145729 1.0 0.6903893171379561 10 Q14739 1 |
| Bacterial endocarditis 0.92752562225476 1.3716667360048604 0.1701672081554788 1.0 0.6917666940233594 2 P04062 1 |
| 2 3 toe syndactyly 0.5214839036472901 1.367503009642784 0.1714676945595545 1.0 0.6946765109087584 23 Q9UBM7,O43924,Q15125 3 |
| Aplasia hypoplasia of the sacrum 0.9629866674286542 1.3667827382581914 0.1716934149248108 1.0 0.6946765109087584 3 P04066 1 |
| Intrinsic hand muscle atrophy 0.7376623539252243 1.365283060116259 0.1721641011011645 1.0 0.6954747846462884 5 Q9NR77,Q13501 2 |
| Lumbar scoliosis 0.7898788589555322 1.3622642088025698 0.173114518627226 1.0 0.6980574659469816 4 P27635 1 |
| Knee flexion contracture 0.5192677801997874 1.3602091834645589 0.173763737290139 1.0 0.7000463671078492 24 Q86XL3,P48651,P23786,P37268 4 |
| Broad phalanx of the toes 0.7890456786228721 1.3592016273374767 0.1740827057704344 1.0 0.7007024067244032 4 Q7LGA3 1 |
| Photophobia 0.5189041164532667 1.3578523159638252 0.1745105506045987 1.0 0.7011668317935893 36 P51648,P04080,P07602,P04439,Q13432,P40939,P01889 7 |
| Abnormal vitreous humor morphology 0.7116840229696668 1.357102557716579 0.1747486258995292 1.0 0.7011782823515382 6 P04439 1 |
| Abnormal trabecular bone morphology 0.7114751922618854 1.3562874000026142 0.1750077428863754 1.0 0.7011782823515382 6 O95453,Q9H1A4,P06748,Q9NPE3 4 |
| Generalized hyperpigmentation 0.6247829970996405 1.3554347477373203 0.1752790851122951 1.0 0.7011782823515382 11 O95453,P36507,P51648 3 |
| Encephalocele 0.6247725269438655 1.355386116668719 0.1752945705878845 1.0 0.7011782823515382 11 Q10713 1 |
| Hammertoe 0.5706809898996261 1.354226896369744 0.1756640005819307 1.0 0.7016716551463603 16 Q9NR77,Q9UBM7,Q99720,Q8N0X7 4 |
| Bone marrow foam cells 0.922767203513912 1.353478571170018 0.1759027913442243 1.0 0.7016716551463603 2 O15118 1 |
| Pulmonary infiltrates 0.7106832982758532 1.3531961157872194 0.1759929858279001 1.0 0.7016716551463603 6 P04062,P01889,Q13510 3 |
| Tongue fasciculations 0.6314663850805586 1.352549379144908 0.1761996335449973 1.0 0.7016716551463603 10 P51114,Q13510,O95831,Q16637 4 |
| Frequent falls 0.5139831055441758 1.351936884455181 0.1763955068778002 1.0 0.701828931620184 34 Q9NR77,Q13642,P07602,P27635,P21912,P37198,P40939,P04062,Q13510 9 |
| Toxemia of pregnancy 0.7096018782506222 1.3489741814749328 0.1773452591409916 1.0 0.7037360946284442 6 O43772 1 |
| Hypercholesterolemia 0.6231397230363105 1.3478008753136326 0.1777224363217735 1.0 0.7044633329880899 11 P01130,Q15904 2 |
| Visual fixation instability 0.9202049780380708 1.343690063235156 0.1790486319047652 1.0 0.7060208084290156 2 Q5KU26 1 |
| Cardiac conduction abnormality 0.5154461254130435 1.34315829029681 0.1792207242094641 1.0 0.7060208084290156 25 P06280,P23786 2 |
| Molar tooth sign on mri 0.7845853224403159 1.3428051230230431 0.1793350841133929 1.0 0.7060208084290156 4 O43924 1 |
| Hydrops fetalis 0.5237055910135584 1.339458499954727 0.1804214559460637 1.0 0.7060208084290156 40 Q14739,P10619,P40939,P04062,P16278,P08236 6 |
| Abnormality on pulmonary function testing 0.5716953272060538 1.3381448347751628 0.1808492278456244 1.0 0.7060208084290156 15 O95453,Q96L58,P01889,P16278 4 |
| Postural instability 0.5716644235534429 1.337979943686217 0.1809029748728732 1.0 0.7060208084290156 15 O75503 1 |
| Arthrogryposis multiplex congenita 0.5054227764448054 1.3378305274256723 0.1809516880486918 1.0 0.7060208084290156 31 P04062,O75844,Q15392,Q8NCH0 4 |
| Atlantoaxial dislocation 0.917276720351392 1.332507982051543 0.1826933202922729 1.0 0.7060208084290156 2 Q96L58 1 |
| Global brain atrophy 0.5619633950072866 1.3317953472716164 0.1829274472901203 1.0 0.7060208084290156 17 P07602,O75306,Q13501 3 |
| Hallux valgus 0.573735986454473 1.3314840351435944 0.1830297946536934 1.0 0.7060208084290156 14 Q13642,Q96L58,P04062,Q96J02 4 |
| Pericardial effusion 0.7813609202977972 1.3309511485923196 0.1832050855871023 1.0 0.7060208084290156 4 Q14108 1 |
| Cirrhosis 0.5187944452353576 1.3306857452480805 0.1832924353657818 1.0 0.7060208084290156 38 Q15904,Q14739,Q10713,Q14108,P04062,P38571,P11717 7 |
| Aplasia hypoplasia involving the nose 0.5165632284265722 1.330547676633368 0.1833378888283527 1.0 0.7060208084290156 22 O75844 1 |
| Hypoplasia of teeth 0.5663220037952416 1.3304923094903336 0.1833561185487902 1.0 0.7060208084290156 16 O75844 1 |
| Vertebral segmentation defect 0.511615943278918 1.3264591226602829 0.1846876665043231 1.0 0.7060291714407173 26 Q9Y619,Q8TAA9,Q15125 3 |
| Anteriorly placed anus 0.6252409230052721 1.3243327320117737 0.1853925643538008 1.0 0.7069174416481376 10 Q15022,P48651,Q14839 3 |
| Abnormal lung lobation 0.6177014401696316 1.3225192562239612 0.1859953014911708 1.0 0.707396113474665 11 Q14739 1 |
| Dyspnea 0.5466026170648616 1.3219355615755402 0.1861896093847621 1.0 0.707396113474665 87 O75844,Q969Y2,P10253,P01130,Q96EY8,P10644,Q15165,P07602,P06280,Q96L58,Q9Y619,Q13510,P04062,P01889,Q13501,O95831,P23786 17 |
| Abnormal blood transition element cation concentration 0.6175007018064657 1.3215855562378935 0.1863061956611083 1.0 0.707396113474665 11 Q15904,Q14746,Q6PGP7,Q9Y487,Q15477,Q9Y276,P28288 7 |
| Peripheral opacification of the cornea 0.947738317249742 1.31474759280107 0.1885947457528998 1.0 0.7112716125537936 3 P34913 1 |
| Endocarditis 0.7236199656366256 1.3117840925635498 0.1895929936976927 1.0 0.7139460966103794 5 P04062,P01889,P10644 3 |
| Diaphyseal thickening 0.9465397290369828 1.310660511775023 0.1899724853952511 1.0 0.7139460966103794 3 Q14739,P08236 2 |
| Increased ldl cholesterol concentration 0.6220406149294965 1.3098151915977474 0.1902583626439424 1.0 0.7139460966103794 10 Q13642,P34913,P38571,P01130 4 |
| Hyperlipoproteinemia 0.6220406149294965 1.3098151915977474 0.1902583626439424 1.0 0.7139460966103794 10 Q13642,P34913,P38571,P01130 4 |
| Mild microcephaly 0.6892605308826846 1.3085221548734 0.1906962650946981 1.0 0.7149915102297455 7 Q05086,Q9Y2V7,P21912,Q69YN2 4 |
| Abnormality of the skull base 0.525390413468263 1.305005858348168 0.1918908529556366 1.0 0.7181289763831047 44 Q9UBM7,Q14739,Q10713,O43505,P48651,Q15125,P23786 7 |
| Contractures of the joints of the upper limbs 0.542889910191919 1.3046469443730162 0.1920130952896002 1.0 0.7181289763831047 59 O75844,Q8IZA0,Q96L58,Q99720,Q9Y619,Q15392,P48651,P42892,P23786,P37268 10 |
| Inflammation of the large intestine 0.6059509600315109 1.3041701647083166 0.1921755699869001 1.0 0.7181381832649524 12 P08183 1 |
| Generalized myoclonic seizure 0.5047119419343904 1.3029964461142278 0.1925759748703073 1.0 0.7185745457236865 33 P11166,P07602,Q9Y619,Q96N66,P04062,P16278,Q13510 7 |
| Somatic sensory dysfunction 0.5401197709575933 1.301428249224223 0.1931119093852913 1.0 0.7186453145283478 92 Q5T440,P05067,P07602,P06280,O14773,O15269,Q8IV08,Q8N2K0,P11166,Q9Y619,P54802,Q06787,Q9BUK6,O95831,Q9NR77,O00400,P01889,Q27J81,Q8NCH0,P07686,Q8N0X7 21 |
| Abnormal ilium morphology 0.5605670219050828 1.2991164979300112 0.193903952106051 1.0 0.718785104659216 16 Q96L58,P16278,P01889,Q8TAA9 4 |
| Disinhibition 0.517711313669659 1.2980436247680829 0.194272344669913 1.0 0.718785104659216 40 P05067,Q8TAA9,Q96N66,Q06787,P04062,Q13501 6 |
| High frequency sensorineural hearing impairment 0.7717625899724079 1.295664286070401 0.195091170653713 1.0 0.7190494153799167 4 O75844 1 |
| Episodic ataxia 0.7717352228419844 1.295563681398608 0.1951258484479336 1.0 0.7190494153799167 4 P11166,O14936 2 |
| Abnormality of the distal phalanges of the toes 0.7717216174182221 1.295513666344955 0.1951430900028383 1.0 0.7190494153799167 4 O75844 1 |
| Abnormal urine metabolite level 0.4592673240591543 1.2940983455146051 0.1956314529760465 1.0 0.7196671811118828 133 P00367,P10253,Q96EY8,Q4J6C6,P35610,P06280,Q9Y619,P54802,Q14108,P04062,P16278,P15586,P04066,P23786,O14936,P08236 16 |
| Dilatation of the cerebral artery 0.6289058489697531 1.2917773115859843 0.1964342747251795 1.0 0.7214378273049146 9 P10253 1 |
| Young adult onset 0.6109557536813276 1.2911249087071597 0.1966603680730472 1.0 0.7214506472667385 11 P07602 1 |
| Emg chronic denervation signs 0.6031522796829756 1.290792235149968 0.1967757310332347 1.0 0.7214506472667385 12 P07602 1 |
| Abnormality of the upper respiratory tract 0.5453898639847845 1.2879344490505142 0.1977687824796252 1.0 0.7214506472667385 81 Q9UBM7,Q14739,Q15165,P07602,P10644,Q13510,P54802,Q13432,Q06787,P01889,P16278,P13051,P15586,Q13501,P04066,P08236 16 |
| Hyperammonemia 0.5043873905666265 1.2862514609642404 0.1983553165179303 1.0 0.7214506472667385 34 O43772,Q96EY8,P35610,Q9Y619,P40939,P23786,P00367 7 |
| Esophageal stricture 0.7690650542023467 1.2857482093349668 0.198530950321913 1.0 0.7214506472667385 4 P01889 1 |
| Cardiorespiratory arrest 0.9388502380080556 1.2844537211018248 0.1989832464684329 1.0 0.7214506472667385 3 O43772,P13473 2 |
| Hypertonia 0.4266753156750436 1.2813720474624557 0.2000630174962754 1.0 0.7214506472667385 324 Q5T440,P05166,P05067,O00584,P07602,Q99720,Q96N66,O75503,Q15392,O60701,Q9Y487,Q15125,Q15022,P06865,P11117,Q8N2K0,P17900,P11166,P50897,P35610,Q5KU26,Q86XL3,Q9Y619,Q9NR50,Q06787,O75306,Q7LGA3,P04066,O95831,O14936,O00400,Q14739,Q15165,Q10713,O15118,O43505,P16278,Q13501,Q13510,O95453,Q9UBM7,P51648,P07686,Q16625,P49770,P04062,P42858,Q8N0X7 48 |
| Erlenmeyer flask deformity of the femurs 0.9372730067508404 1.2790815223352543 0.2008683496938597 1.0 0.7214506472667385 3 P07602 1 |
| Resting tremor 0.5605000208468596 1.2783317884104644 0.2011324639198093 1.0 0.7214506472667385 15 P07602,P04062 2 |
| Wide intermamillary distance 0.5562671101476333 1.2756466118457397 0.2020804690299327 1.0 0.7214506472667385 16 Q5T440,Q9UBM7,P23786 3 |
| Enlarged posterior fossa 0.5105912644200732 1.2741540357572905 0.2026088312715244 1.0 0.7214506472667385 38 Q10713,P23786,Q15125,O43505 4 |
| Primary gonadal insufficiency 0.6529413348575708 1.2740282814635893 0.2026533934044425 1.0 0.7214506472667385 8 P51809,O76024,P49770,Q9NR50,Q13144 5 |
| Obsessive compulsive behavior 0.4978503960277586 1.2709212025824663 0.2037566826378096 1.0 0.7214506472667385 32 O75503,Q06787,Q13501,Q05086,Q5JRX3 5 |
| Abnormal pericardium morphology 0.6240954923066788 1.270560396076642 0.2038850837920773 1.0 0.7214506472667385 9 Q14108,P01889 2 |
| High narrow palate 0.5052221772022049 1.2703310555621716 0.2039667304053081 1.0 0.7214506472667385 24 P23786,Q9Y619 2 |
| Aplasia hypoplasia involving bones of the thorax 0.5016039244187884 1.2695061709190811 0.204260591025104 1.0 0.7214506472667385 27 O75844,Q14739,Q8TAA9,Q9Y619,P48651 5 |
| Recurrent skin infections 0.597346773858122 1.2630220813958168 0.2065812442219463 1.0 0.7248754552185563 12 P53634,P02786 2 |
| Spasticity 0.409286412780646 1.2546686534051357 0.2095990696353693 1.0 0.7263437552548198 268 Q5T440,O00584,P07602,Q99720,Q96N66,O75503,Q15392,O60701,Q9Y487,Q15022,P11117,Q8N2K0,P17900,P11166,P50897,P35610,Q5KU26,Q86XL3,Q9Y619,Q9NR50,O75306,P04066,O95831,O14936,O00400,Q15165,Q10713,O15118,O43505,P16278,Q13501,Q13510,P51648,P07686,Q16625,P49770,P04062,P42858,Q8N0X7 39 |
| Deviation of the hallux 0.5044721531394876 1.2543835513150208 0.2097026282839946 1.0 0.7263437552548198 22 P42858,Q96L58,P04062,Q7LGA3,Q96J02 5 |
| Abnormal nervous system electrophysiology 0.3905830949511347 1.2542146325401475 0.2097640027275256 1.0 0.7263437552548198 152 P07602,O14773,Q99720,Q96N66,O75503,O60701,O15269,Q15125,Q13363,Q8N2K0,P11166,P04080,P50897,Q9Y619,Q14108,Q05086,O95831,Q9BQE5,O14936,P00367,Q8IWS0,Q9NR77,Q9HA77,Q13501,P36507,P13073 26 |
| Abnormal cerebral vascular morphology 0.534921522297821 1.25292846385262 0.2102317419585575 1.0 0.7263437552548198 58 O75844,P05067,P10253,P01130,Q96L58,P06280,P04062,P23786 8 |
| Anarthria 0.6849961322904242 1.2528113212081025 0.2102743805412328 1.0 0.7263437552548198 6 Q99720 1 |
| Central scotoma 0.6477951521325718 1.252483628309525 0.2103936902476082 1.0 0.7263437552548198 8 Q9H061 1 |
| Sparse eyebrow 0.4923534220213795 1.248576331921703 0.2118200735257043 1.0 0.7290249156314118 31 O75844,Q14696,P62140,O75431,Q92643,P62857,P48449,Q15125 8 |
| Neurofibrillary tangles 0.9278911287582624 1.247152196963537 0.2123416969638389 1.0 0.7302601808227658 3 P05067 1 |
| Abnormal metaphyseal trabeculation 0.7060445025290581 1.2447904256991391 0.2132087964117639 1.0 0.730443571218318 5 O95453,P06748,Q9NPE3 3 |
| White hair 0.7060445025290581 1.2447904256991391 0.2132087964117639 1.0 0.730443571218318 5 O95453,P06748,Q9NPE3 3 |
| Oral leukoplakia 0.7060445025290581 1.2447904256991391 0.2132087964117639 1.0 0.730443571218318 5 O95453,P06748,Q9NPE3 3 |
| Aphasia 0.4931545790170547 1.2426014179013392 0.2140147471673517 1.0 0.7317860698095008 30 Q7LGA3,P42858,P05067,Q13501 4 |
| Morning myoclonic jerks 0.892752562225481 1.2391102299241474 0.2153046790418185 1.0 0.7324905596172377 2 Q14108 1 |
| Premature loss of primary teeth 0.8927525622254806 1.2391102299241457 0.2153046790418191 1.0 0.7324905596172377 2 P53634 1 |
| Neuronal loss in basal ganglia 0.7561550321789372 1.2383087224866325 0.2156016107964284 1.0 0.7324905596172377 4 P42858 1 |
| Psychomotor retardation 0.4905871944342028 1.2364852047993415 0.2162782619165881 1.0 0.7336786390639816 31 O00400,Q9Y619,P04062,P16278,O95831 5 |
| Limitation of movement at ankles 0.7555157936793439 1.2359608386032286 0.2164731207297974 1.0 0.7337850195130897 4 O75844 1 |
| Renal hypoplasia 0.5005199822224232 1.2344043924256742 0.2170522530963023 1.0 0.7338631617151452 23 O43924 1 |
| Visual impairment 0.3931831747269858 1.2341413425475394 0.2171502403649092 1.0 0.7338631617151452 228 Q5T440,P07602,P04439,O14773,Q96N66,O75503,Q13432,P06865,P37268,P17900,P13473,P50897,Q5KU26,Q9H061,Q9NX14,Q9NR50,O75306,Q7LGA3,O95831,O14936,Q8IWS0,Q969Y2,Q9HA77,Q07021,Q10713,O43505,P61960,P40939,P01889,P16278,P07686,P43897,P49770,P42858 34 |
| Polydactyly 0.5065419767378254 1.233272691735741 0.2174740427407497 1.0 0.734404442302848 39 Q9UBM7,O43924,Q14739,Q10713,Q15125,Q13363 6 |
| Abnormality of the larynx 0.5115133364029655 1.2310103990290615 0.2183189749631353 1.0 0.736149932107101 42 Q9UBM7,Q14739,Q15165,P07602,P27635,Q92804,Q13501,Q13510 8 |
| Recurrent otitis media 0.5005992784382248 1.229937336632711 0.218720571359265 1.0 0.7362615825831006 22 Q13432,Q9UBM7,Q14739 3 |
| Hyperkeratosis 0.5284799344867956 1.226734702788664 0.2199223200323923 1.0 0.7362615825831006 55 P53634,O75844,O95453,P36507,P51648,Q06136,O75431,P09493,P06280,Q9NPE3,O15269,P04062,Q14126,P04066,O15270 15 |
| Color vision defect 0.5968688543663816 1.2254654911865477 0.2203998844984087 1.0 0.7362615825831006 11 Q9H061 1 |
| Abnormality of skin adnexa physiology 0.5089579800389104 1.2251635124408582 0.2205136190765055 1.0 0.7362615825831006 41 O95453,P36507,P07686,P04080,O00170,P06280,P21912,Q9Y2V7,Q9NPE3,O15269,P01889,P04066,O15270,O14936 14 |
| Abnormal ldl cholesterol concentration 0.5719007498757427 1.2245135948629244 0.220758540996677 1.0 0.7362615825831006 13 P34913,P01130,P37268 3 |
| Plagiocephaly 0.4958655518581126 1.2237072341607602 0.2210626896798104 1.0 0.7362615825831006 26 Q96L58,Q10713,O60701 3 |
| Abnormality of the cerebrospinal fluid 0.4932913353620866 1.223217835895633 0.2212474307032628 1.0 0.7362615825831006 117 P07602,Q15392,P48651,Q15125,Q13363,P11166,P62140,Q96L58,Q9NX14,O75306,O95831,P23786,P08236,P10644,Q10713,Q8TAA9,O43505,Q9UBM7,P36507,P13073,Q16625,P04062 22 |
| Hypertelorism 0.3764671054621543 1.2230157009754994 0.2213237660987379 1.0 0.7362615825831006 155 O75844,O43924,P48651,Q9Y487,Q15125,Q13363,Q15022,P62140,Q96L58,Q7LGA3,O95831,P04066,O14936,Q14739,P10644,P16278,Q9UBM7,P36507,Q8NCH0,Q10471,P04062,P42858,Q8N0X7 23 |
| Abnormality of the gallbladder 0.4951439308868287 1.2227808185026097 0.2214124921764699 1.0 0.7362615825831006 34 P04062,P07602,P04066,Q9UBM7 4 |
| Sensory axonal neuropathy 0.5888646915812078 1.2224094316561027 0.221552834339513 1.0 0.7362615825831006 12 Q8IV08 1 |
| Infectious encephalitis 0.6675496243499777 1.2221056238953394 0.2216676866507185 1.0 0.7362615825831006 7 Q14739 1 |
| Absent septum pellucidum 0.4943447822281326 1.2216590650514738 0.2218365823905359 1.0 0.7362615825831006 27 Q96N66,Q15392,P48651,O43505 4 |
| Abnormal uvula morphology 0.4970142437609147 1.2213297005618482 0.2219612123963759 1.0 0.7362615825831006 35 Q9Y619,O43505,P62266,Q15392,P48651 5 |
| Acne 0.5956813131133816 1.219925613609136 0.2224930750381117 1.0 0.7363650931035195 11 Q92542 1 |
| Azoospermia 0.6761573890541649 1.2182454556224127 0.2231307106901305 1.0 0.7364115590235725 6 P04062,P51809 2 |
| Skin ulcer 0.4937591867258249 1.2177953616619397 0.2233017473905008 1.0 0.7364115590235725 27 O95453,Q14739,O75874,Q9NPE3,O15269,P01889,P04062,Q8IZA0 8 |
| Generalized onset motor seizure 0.5110177018390301 1.215959500492226 0.2240003501807608 1.0 0.7378439009137249 43 P11166,Q9HA77,P07602,Q9Y619,Q96N66,P04062,P16278,Q05086,Q13510,O14936 10 |
| Scarring 0.4872531625175467 1.2136448117083172 0.2248833872115643 1.0 0.7394313813728808 31 P53634,Q96L58,P04439,Q92542,Q15125 5 |
| Urinary incontinence 0.5016283500855132 1.212223681790012 0.2254267686264304 1.0 0.7400990033616823 38 P07686,P11166,P07602,Q10471,Q8TAA9,Q99720,Q06787,Q13501 8 |
| Abnormal ovarian physiology 0.5200762155622684 1.2109715160807446 0.2259063215236056 1.0 0.7402076916665717 19 O75844,O00170,Q9NR50,Q06787,P49770,Q13144 6 |
| Abnormal neuron morphology 0.4927060287596303 1.2108453906136591 0.2259546652368991 1.0 0.7402076916665717 27 Q16637,Q15165,Q99720,Q13501,Q92804,P35637,Q13510 7 |
| Abnormal tricuspid valve physiology 0.5396588811643271 1.2073381485265229 0.2273019448108586 1.0 0.7418614653633526 17 Q15904,P10644,P62140,Q9NX14,P40939 5 |
| Abnormally folded helix 0.550035943215531 1.207144984204802 0.2273763134088571 1.0 0.7418614653633526 14 P23786,P62266 2 |
| Myoglobinuria 0.6096884880397665 1.206950293897039 0.2274512870632739 1.0 0.7418614653633526 9 P23786 1 |
| Abnormality of prenatal development or birth 0.3791382679738166 1.204793537384311 0.228283015471038 1.0 0.743328440482464 200 Q5T440,O75844,P10619,Q9Y487,Q15125,P51114,Q13363,P62140,Q96L58,Q9Y619,Q9NX14,O75306,Q7LGA3,P23786,P08236,O43772,Q9HA77,Q14739,Q07021,P27635,O15118,Q8TAA9,P40939,P16278,Q13501,Q13510,Q9UBM7,P36507,Q4J6C6,P43897,P04062 31 |
| Degeneration of the lateral corticospinal tracts 0.6630980271672485 1.204377125584955 0.2284438490908187 1.0 0.743328440482464 7 Q13501,O00400 2 |
| Cardiac arrest 0.48884936522217 1.2031519451030062 0.2289175270081807 1.0 0.743328440482464 29 Q14126,O43772,P01130,P01889 4 |
| Abnormal larynx morphology 0.4947453354433087 1.2030617571170252 0.2289524229947643 1.0 0.743328440482464 24 P07602,Q14739 2 |
| Abnormality of the optic nerve 0.3806780086313227 1.2005855864480015 0.2299119948996706 1.0 0.7448324977689932 204 Q5T440,P07602,P06280,P04439,Q15125,Q13363,P37268,Q8N2K0,P50897,P62140,Q96L58,Q5KU26,Q9H061,Q9NX14,Q9NR50,O75306,Q7LGA3,O95831,O14936,P01130,P10644,Q10713,O43505,P01889,P16278,Q9UBM7,P36507,P43897,P49770,P04062,P42858 31 |
| Distal peripheral sensory neuropathy 0.7454436666406752 1.198986211413185 0.2305333071792734 1.0 0.7448324977689932 4 P40939 1 |
| Overlapping toe 0.4948589447358354 1.1897560430511795 0.2341422910473194 1.0 0.7489883123452384 21 Q15125 1 |
| Ulnar deviation of finger 0.6591376213280442 1.1886047806864923 0.234595225750489 1.0 0.7499026874417344 7 Q9UBM7 1 |
| Abnormality of coordination 0.4068438168813043 1.187287649002963 0.2351141781984991 1.0 0.7505510113108332 274 P05067,O43924,O00584,P07602,O14773,Q99720,O75503,Q9Y487,Q13363,Q8IV08,Q8N2K0,P11166,P04080,P50897,P35610,Q9Y619,Q9NX14,Q14108,Q06787,O75306,Q9BUK6,Q05086,O95831,O14936,Q9NR77,Q10713,O15118,P40939,P01889,P16278,Q13501,Q13510,O95453,P07686,Q92643,P43897,P04062,P42858,Q96IX5,Q8N0X7,Q5JRX3 41 |
| Decreased activity of mitochondrial complex iv 0.5359736589745387 1.186727371980472 0.2353351746361487 1.0 0.7505510113108332 17 P43897,P13073,Q969Y2,Q9HA77 4 |
| Erythema 0.5399457144167022 1.1863933822216777 0.2354669839406535 1.0 0.7505510113108332 16 P51648,P01889,Q15125,Q06136 4 |
| Abnormality of the scrotum 0.4913821527469829 1.1825246512454146 0.2369975901277237 1.0 0.7534825959198052 35 P42858,Q9UBM7,Q8IWS0,Q9Y619,Q7LGA3 5 |
| Skin dimple 0.4923930305616575 1.1780747763688095 0.2387667968075955 1.0 0.7554484569611093 22 Q9NX14,Q13363,Q8TAA9,Q15125 4 |
| Abnormality of lower limb joint 0.4273325873632441 1.1770421306350984 0.2391786908633908 1.0 0.7554484569611093 140 O75844,P07602,P48651,Q9Y487,Q15125,Q13363,P37268,Q96L58,Q86XL3,Q14839,Q9Y619,Q7LGA3,Q05086,O95831,P23786,P08236,Q8IWS0,Q9NR77,P16278,Q13510,Q9UBM7,P36507,P42858,Q8N0X7 24 |
| Abnormality of bone mineral density 0.5019188730224322 1.1767666819525435 0.2392886444128341 1.0 0.7554484569611093 110 O75844,Q14739,P10644,P07602,P06280,Q96L58,Q32P28,O95831,Q13510,P54802,Q14108,Q15392,P04062,P16278,Q15125,P48651,Q13501,Q13363 18 |
| Absent eyebrow 0.6649769682098704 1.1745309754609183 0.2401824123858349 1.0 0.7554484569611093 6 O75844 1 |
| Abnormal cardiac ventricle morphology 0.3588551975709212 1.1739237810235834 0.2404255561158754 1.0 0.7554484569611093 163 O75844,Q13642,P06280,O75208,P62857,P42892,Q13363,P10253,P50542,P62140,O75431,Q96L58,O00170,P21912,Q14839,Q9NX14,O75306,Q16637,P23786,O14936,O43772,P01130,Q969Y2,Q14739,Q07021,P27635,Q9Y2V7,P40939,P46777,P18077,Q9UBM7,P36507 32 |
| Sleep wake cycle disturbance 0.6870000816061808 1.1722405568472278 0.2411004896310538 1.0 0.7554484569611093 5 Q9UBM7 1 |
| Absent hair 0.5853798595896107 1.1718502906270505 0.2412571675982011 1.0 0.7554484569611093 11 O75844 1 |
| Developmental regression 0.5063359120192091 1.1715446501067368 0.2413799214086966 1.0 0.7554484569611093 107 Q5T440,P07602,P06280,O14773,O75503,P17900,Q9NR50,O75306,O95831,O14936,Q9HA77,P01889,P16278,Q13510,Q9NZ08,Q13057,P07686,P13073,P49770,P42858,Q96IX5 21 |
| Decreased muscle mass 0.536933254754744 1.1698981833860842 0.2420419450457618 1.0 0.75674166824602 16 P04066,Q8NCH0,Q13363,Q8TAA9 4 |
| Esodeviation 0.4844870421287276 1.1641884306078374 0.2443476577440793 1.0 0.7610217126685828 33 Q5KU26,O43924 2 |
| Reduced forced expiratory volume in one second 0.872254758418743 1.1615160828912794 0.2454320865988912 1.0 0.763869073963817 2 O95453 1 |
| Nephrotic syndrome 0.4879674852886573 1.1594657816683875 0.2462663766337067 1.0 0.7654040847175041 24 Q8NCH0,Q07021,P06280,P51809,Q14108 5 |
| Deep plantar creases 0.6816814785616654 1.1520022329423023 0.2493201557568762 1.0 0.7706259359757993 5 O00170,Q9Y487 2 |
| Ragged red muscle fibers 0.5365534439172126 1.1499989773918229 0.2501442924587729 1.0 0.7707174243534923 15 Q9H2D1,O95831,Q9HA77 3 |
| Coarse hair 0.5332424300824212 1.149682620072403 0.2502746152066786 1.0 0.7707174243534923 16 P54802,Q9Y487,P15586 3 |
| Equinovarus deformity 0.7316670683138401 1.1484936919752184 0.2507648156093709 1.0 0.7707404253280985 4 P40939 1 |
| Abnormal foot bone ossification 0.8986613344828929 1.1480558485731822 0.2509455091576156 1.0 0.7707404253280985 3 Q15125 1 |
| Gastrointestinal inflammation 0.5193919621382712 1.1477433432894837 0.2510745324932442 1.0 0.7707404253280985 18 P08183 1 |
| Respiratory distress 0.5039400962229564 1.14404460752632 0.2526051379798644 1.0 0.7729472275815935 45 P10253,Q96EY8,P07602,Q96L58,Q9Y619,Q13510,Q9NX14,P04062,O95831,P23786 10 |
| Respiratory insufficiency 0.3669546426537135 1.143925483322776 0.252654541635962 1.0 0.7729472275815935 156 Q5T440,Q13642,P07602,P06280,P50402,P10253,P13473,Q96L58,Q9Y619,Q9NX14,O75306,Q92804,O95831,P23786,Q9NR77,O43772,Q969Y2,Q14739,Q15165,Q70HW3,P61960,P40939,Q13501,P35637,Q13510,P43897,O76024 27 |
| Abnormality of lysosomal metabolism 0.896171373084019 1.1396480971645997 0.2544329387377599 1.0 0.7741661213932656 3 P07602 1 |
| Wormian bones 0.5305018343418766 1.134668565104889 0.2565142130117892 1.0 0.7751080903150981 16 Q32P28,O75844,O95831,Q9Y487 4 |
| Juvenile aseptic necrosis 0.8945236733146489 1.134087834156423 0.2567577062730259 1.0 0.7751080903150981 3 Q9Y619 1 |
| Excessive wrinkled skin 0.5930522127057118 1.1334390647893842 0.2570299169079111 1.0 0.7751080903150981 9 O95453,P36507 2 |
| Recurrent hand flapping 0.8941006971775611 1.1326609296177994 0.257356670961405 1.0 0.7751080903150981 3 Q06787 1 |
| Abnormal atrioventricular valve morphology 0.4806957664745429 1.1314844539080295 0.2578512430571393 1.0 0.7751080903150981 27 P04062,O75844,Q96L58 3 |
| Abnormal cervical spine morphology 0.6760989925182388 1.13077607366693 0.2581493528435989 1.0 0.7754714825326497 5 P04066 1 |
| Abnormality of primary teeth 0.5685616447919845 1.1250905796047066 0.2605506528236359 1.0 0.7800663502175947 12 O75844 1 |
| Abnormal fingernail morphology 0.4979042676170607 1.124332217203028 0.2608721157307982 1.0 0.7800663502175947 43 P53634,O75844,O95453,P36507,P04080,Q14739,P48651,Q15125,Q15022 9 |
| Macular purpura 0.5518341924065839 1.1239005105888176 0.2610552347049126 1.0 0.7800663502175947 13 P04062,Q16625,P10644 3 |
| Penetrating foot ulcers 0.8609077598828712 1.1188092137918764 0.2632215400997792 1.0 0.7800663502175947 2 O15269 1 |
| Impaired distal tactile sensation 0.8609077598828712 1.1188092137918764 0.2632215400997792 1.0 0.7800663502175947 2 O15269 1 |
| Trophic changes related to pain 0.8609077598828712 1.1188092137918764 0.2632215400997792 1.0 0.7800663502175947 2 O15269 1 |
| Emg slow motor conduction 0.8609077598828712 1.1188092137918764 0.2632215400997792 1.0 0.7800663502175947 2 O15269 1 |
| Prominent forehead 0.5208679967119191 1.1183559158782377 0.2634150144076244 1.0 0.7800663502175947 64 P42858,P11166,P62140,Q14739,Q96L58,P04066,Q10713,Q92643,Q06787,Q15392,P48651,P15586,Q7LGA3,Q15022,P23786,O14936 16 |
| Hepatic failure 0.496828929139408 1.1168095388361363 0.2640757694453279 1.0 0.7800663502175947 43 O43772,Q10713,O15118,Q9Y619,P40939,P38571,P01889,P04062,Q13510,P23786 10 |
| Pectus carinatum 0.4784376523972277 1.1165466612434944 0.2641882085918092 1.0 0.7800663502175947 27 P16278,Q9Y619,P08236 3 |
| Coloboma 0.4877113561710464 1.1158068604515767 0.2645048165621984 1.0 0.7800663502175947 38 Q9UBM7,O43924,Q10713,O43505,Q13363 5 |
| Duplication of hand bones 0.5029193582715272 1.1156010851573557 0.2645929274173206 1.0 0.7800663502175947 47 Q9UBM7,O43924,Q14739,Q10713,Q15125,Q13363 6 |
| Episodic pain 0.579133840468616 1.114713307573597 0.2649732965229663 1.0 0.7802618768165467 10 P23786 1 |
| Failure to thrive 0.3941582841339526 1.114170653427183 0.2652059826316506 1.0 0.7802618768165467 251 O75844,O43924,P07602,Q15392,P48651,P02786,Q15125,P42892,Q13363,P37268,P10253,Q96EY8,Q96L58,Q9Y619,Q06787,P04066,O14936,Q969Y2,Q15904,Q14739,P40939,P38571,Q13510,O95453,Q9UBM7,P13073,Q16625,Q4J6C6,P04062 29 |
| Excessive daytime somnolence 0.5655948203512284 1.1108670159121876 0.2666255949447367 1.0 0.7819415948057207 12 Q9UBM7,P35610 2 |
| Abnormality of the peripheral nervous system 0.5210056002457231 1.1103957853876305 0.2668285135635606 1.0 0.7819415948057207 86 Q9UBM7,P07686,P07602,P06280,Q10713,Q99720,Q9Y619,Q06787,P04062,Q15125,P42892 11 |
| Abnormal protein o linked glycosylation 0.8874304961357522 1.1101846706348475 0.2669194570504376 1.0 0.7819415948057207 3 Q15904 1 |
| Brisk reflexes 0.4819775837978125 1.108918347785198 0.267465407910995 1.0 0.7827930674341431 21 Q10713,Q5JRX3 2 |
| Optic atrophy 0.3523491655545868 1.1077275275159963 0.2679795072145046 1.0 0.7827930674341431 159 Q5T440,P07602,P06280,Q15125,Q13363,Q8N2K0,P50897,Q5KU26,Q9H061,Q9NR50,O14936,P10644,O43505,P01889,P16278,Q9UBM7,P36507,P43897,P49770 19 |
| Aplasia hypoplasia of the lungs 0.4715948309300773 1.106140663523404 0.2686656406635797 1.0 0.783986602924672 31 O75844,Q9UBM7,Q14739,Q8TAA9,Q13363 5 |
| Myoclonus 0.5227473188539202 1.1050248396707991 0.2691488260200723 1.0 0.784886245079977 77 P05067,P13073,P11166,P50897,P07602,Q10713,O14773,O75503,Q14108,P04062,P42858,Q05086,Q13510,O14936 14 |
| Abnormal upper limb bone morphology 0.521325588851266 1.1038336011472705 0.2696653261446993 1.0 0.7853673502899603 69 P53634,O75844,P36507,Q9UBM7,O43924,Q14739,P10644,Q96L58,Q32P28,P48651,P16278,Q7LGA3,Q13363,P08236 14 |
| Recurrent respiratory infections 0.5059187628132787 1.1035274685549563 0.2697981696260179 1.0 0.7853673502899603 102 P53634,P10253,P07602,Q13363,Q13510,P54802,Q13432,P04062,P01889,P02786,P16278,P15586,P13051,P04066,P08236 15 |
| Aplasia hypoplasia of the ribs 0.5246425896872503 1.1025644796461953 0.2702163426749813 1.0 0.7853673502899603 16 Q8TAA9,Q9Y619,Q14739 3 |
| Acute encephalopathy 0.7189471424442236 1.1019921880178023 0.2704650678541875 1.0 0.7853673502899603 4 Q9Y619 1 |
| Abnormality of the knee 0.5208444084537134 1.1002143861694411 0.2712387239192153 1.0 0.7853673502899603 69 Q9NR77,P36507,Q96L58,Q86XL3,Q9Y619,Q13510,P48651,P16278,Q15125,Q8N0X7,Q7LGA3,O95831,P23786,P37268,P08236 15 |
| Chorioretinal coloboma 0.667879215739613 1.0995596765786 0.2715240191879948 1.0 0.7855301956135671 5 Q10713 1 |
| Aplasia hypoplasia of the cerebellar vermis 0.5107416963327871 1.0992821331994 0.2716450230820535 1.0 0.7855301956135671 55 O43924,Q10713,O43505,Q15125,P23786 5 |
| Mild short stature 0.8834683390126763 1.096857553685252 0.2727036663160547 1.0 0.7870701314639572 3 Q14739 1 |
| Prominent nasolabial fold 0.6659095699426062 1.0920872268272688 0.2747947632032033 1.0 0.7899024535162124 5 Q8NCH0 1 |
| Abnormality of the nasolabial region 0.6659095699426062 1.0920872268272688 0.2747947632032033 1.0 0.7899024535162124 5 Q8NCH0 1 |
| Capillary hemangioma 0.6435690747169969 1.0909440692107382 0.2752974940868522 1.0 0.7902432574849566 6 Q9UBM7 1 |
| Ventriculomegaly 0.4001636532035098 1.089172017861433 0.276078036056868 1.0 0.7917177161809735 146 O00584,P07602,Q15392,O60701,Q9Y487,Q15125,Q13363,P62140,Q5KU26,Q86XL3,Q14839,Q9NX14,P23786,O14936,Q10713,O43505,P16278,O95453,Q9UBM7,Q8NCH0,Q16625,P43897,P04062,P42858 24 |
| Abnormality of the diencephalon 0.4787484646456765 1.088641166105707 0.2763121557911234 1.0 0.791883113148507 21 O75306,O43924,P11166,Q969Y2 4 |
| Abnormal spermatogenesis 0.6334115487500743 1.086231331230807 0.2773766588965141 1.0 0.7937626962719087 7 P04062,P51809 2 |
| Abnormality of lower limb epiphysis morphology 0.5602814128468306 1.085398095992437 0.2777453753233678 1.0 0.7937626962719087 12 Q7LGA3,Q96L58 2 |
| Abnormal odontoid tissue morphology 0.479086677004984 1.083448247898193 0.2786095099853556 1.0 0.7937626962719087 36 Q9UBM7,P51648,P48651,P16278 4 |
| Cutaneous photosensitivity 0.4883088660830469 1.0828098794341663 0.2788928195059936 1.0 0.7937626962719087 20 Q9UBM7,Q14108,P37268,Q06136 4 |
| Dysarthria 0.4253023848237054 1.0785569027745103 0.2807853022841844 1.0 0.7937626962719087 138 P07602,O14773,O75503,P15586,Q8IV08,Q8N2K0,P11166,P04080,Q9NR50,Q14108,Q06787,Q10713,O15118,Q13501,P36507,P51648,P07686,P49770,P04062,Q8N0X7 20 |
| Astrocytosis 0.6401367939949546 1.077567250039295 0.2812269240767118 1.0 0.7937626962719087 6 P37198,Q13501 2 |
| Petechiae 0.5799639734627506 1.075628807576543 0.2820932984265409 1.0 0.7937626962719087 9 P04062,Q16625 2 |
| Blindness 0.5175218647719056 1.075219725052962 0.2822763662816379 1.0 0.7937626962719087 69 P17900,P50897,P07602,O43505,P01889,P16278,P06865 7 |
| Abnormality of epiphysis morphology 0.4907083548537544 1.0739756244874998 0.2828336066492061 1.0 0.7937626962719087 43 Q9UBM7,Q14739,Q96L58,O95831,Q9Y619,P16278,Q15125,Q7LGA3,Q13363,P08236 10 |
| Gingival bleeding 0.570102634699943 1.0736380387207274 0.2829849419173043 1.0 0.7937626962719087 10 Q14108,P04062 2 |
| Atrophy degeneration involving the corticospinal tracts 0.5642502636896062 1.0732299110161847 0.2831679734643058 1.0 0.7937626962719087 11 Q13501,O00400 2 |
| Abnormal sclera morphology 0.4751976729817274 1.0728511946449415 0.2833378867458496 1.0 0.7937626962719087 23 Q8NCH0,P10644,Q96L58,P62266,P40939 5 |
| Feeding difficulties in infancy 0.4499870062460819 1.0703586204964848 0.2844579174706976 1.0 0.7937626962719087 129 P05166,O43924,P07602,Q99720,O60701,Q9Y487,Q15022,P37268,P10253,Q96EY8,P62140,Q9Y619,O75306,Q05086,O95831,P23786,O14936,Q8IWS0,Q969Y2,Q10713,P27635,P40939,P35637,Q9UBM7,P36507,P43897 26 |
| Infantile onset 0.3578082220515229 1.0685739167837938 0.2852617068828629 1.0 0.7937626962719087 157 O95453,Q9NR77,P07686,Q15904,O00400,O00584,Q92643,P07602,Q10713,O14646,P11166,P40939,P38571,O75306,O95831,P06865,P23786,Q5JRX3 18 |
| Sensorimotor neuropathy 0.4711320104351877 1.0681972633492736 0.2854315389751427 1.0 0.7937626962719087 27 Q9NR77,Q8N2K0,P07602,Q5KU26,P40939,O95831 6 |
| Limited hip movement 0.5406973622379215 1.068049019043939 0.2854984007047445 1.0 0.7937626962719087 13 O75844 1 |
| Aortic regurgitation 0.4744369317250925 1.0679923227237431 0.2855239749008811 1.0 0.7937626962719087 23 O75844 1 |
| Intestinal malrotation 0.4747380244310516 1.0663182995184484 0.2862797800076566 1.0 0.7937626962719087 22 Q9UBM7,Q15392,Q13363,Q14739 4 |
| Optic nerve dysplasia 0.8466325036603292 1.0653900240028122 0.2866994693119067 1.0 0.7937626962719087 2 O43505 1 |
| Status epilepticus with prominent motor symptoms 0.8466325036603262 1.0653900240028014 0.2866994693119116 1.0 0.7937626962719087 2 Q13510 1 |
| Multiple enchondromatosis 0.6588510978405987 1.0653371804532163 0.286723373280584 1.0 0.7937626962719087 5 O75874,P48735,Q9H9Y6 3 |
| Retrognathia 0.516106728759763 1.0645723199395265 0.2870695113786541 1.0 0.7937626962719087 69 Q5T440,O75844,Q8NCH0,Q14696,Q16625,Q4J6C6,P27635,Q9Y619,Q15022,Q9NX14,Q15392,P04062,Q15125,Q7LGA3,O95352,Q13363,P37268 17 |
| Pathologic fracture 0.5400036720552449 1.0645713770251366 0.2870699382691499 1.0 0.7937626962719087 13 O15269,Q96L58,Q14108,P04062 4 |
| Aplasia hypoplasia of the tongue 0.7086543873590727 1.0644740067917808 0.2871140235041083 1.0 0.7937626962719087 4 Q9UBM7 1 |
| Microglossia 0.7086543873590727 1.0644740067917808 0.2871140235041083 1.0 0.7937626962719087 4 Q9UBM7 1 |
| Congenital contracture 0.4761726715816313 1.0632830509579234 0.2876536090722337 1.0 0.7937626962719087 36 P04062,O75844,Q15392,Q8NCH0 4 |
| Increased susceptibility to fractures 0.4904950709153948 1.0608817312057257 0.288743652631809 1.0 0.7937626962719087 44 O95453,P10644,Q14739,Q96L58,Q32P28,O75874,Q9NPE3,Q14108,O15269,P04062,Q13501,O15270 12 |
| Dyspareunia 0.8448023426061564 1.0585693381851458 0.2897959571077972 1.0 0.7937626962719087 2 P01889 1 |
| Pituitary prolactin cell adenoma 0.8448023426061539 1.0585693381851369 0.2897959571078012 1.0 0.7937626962719087 2 P10644 1 |
| Elevated circulating growth hormone concentration 0.8448023426061539 1.0585693381851369 0.2897959571078012 1.0 0.7937626962719087 2 P10644 1 |
| Abnormal libido 0.8448023426061524 1.058569338185131 0.2897959571078039 1.0 0.7937626962719087 2 P42858 1 |
| Mutism 0.5217654522215088 1.058428645544744 0.2898600655619503 1.0 0.7937626962719087 14 P42858,Q9NX14,Q13510,Q13501 4 |
| Periodontitis 0.5756298007920287 1.0565007851384498 0.2907394823287474 1.0 0.7937626962719087 9 P53634,O95453 2 |
| Oromandibular dystonia 0.8711094837056025 1.0554144814444373 0.2912358026351507 1.0 0.7937626962719087 3 P35637,Q99720 2 |
| Fine hair 0.5602099682974168 1.0543879078647156 0.2917053561623781 1.0 0.7937626962719087 11 P36507,P04080,Q6PGP7,Q08J23,P41227,Q15022 6 |
| Acute hepatic failure 0.5538012846369017 1.0543510011782915 0.2917222467059368 1.0 0.7937626962719087 12 P40939,P38571,P01889 3 |
| Abnormal urine cytology 0.4706746146416222 1.0541275580561609 0.2918245206882017 1.0 0.7937626962719087 34 P06280,P04062,Q14108,P01889 4 |
| Decreased plasma carnitine 0.5593955689317526 1.0505910966736154 0.2934464319485221 1.0 0.7962440063996176 11 O43772,P23786 2 |
| Muscle weakness 0.388456033784917 1.049672883523083 0.293868535052511 1.0 0.796426319635066 247 Q5T440,P07602,Q99720,O15269,P48651,P51114,P06865,P17900,P10253,P13473,Q5KU26,Q9NX14,Q06787,O75306,Q92804,Q9BUK6,O95831,P23786,O14936,Q9NR77,O43772,O00400,Q14739,Q15165,P10644,Q10713,Q70HW3,O43505,P40939,P01889,Q27J81,Q13501,Q13510,P36507,Q8NCH0,P07686,P13073,Q4J6C6,P43897,P42858,Q8N0X7 41 |
| Lipoma 0.6237874920568791 1.0480156703428312 0.2946313871458641 1.0 0.7977809816807683 7 Q9BUK6,P27635,Q8TAA9 3 |
| Cervical spine instability 0.8418740849194785 1.0476704892589488 0.294790448539 1.0 0.7977809816807683 2 Q96L58 1 |
| Epispadias 0.6540243633479628 1.0470734723259176 0.2950656931212099 1.0 0.7977809816807683 5 P48651,Q9Y619 2 |
| Retinal coloboma 0.6230999398452193 1.0452881724614131 0.2958898024278129 1.0 0.7977809816807683 7 Q10713 1 |
| Low set posteriorly rotated ears 0.5094980611675413 1.04444623581327 0.2962789815416786 1.0 0.7977809816807683 62 P36507,Q9UBM7,Q8NCH0,O43924,Q4J6C6,Q96L58,Q10713,Q10471,Q13363,Q15392,P04062,Q15022,P37268 13 |
| Kyphosis 0.4643700377093494 1.0439538156597232 0.2965067578683544 1.0 0.7977809816807683 122 O75844,P48651,Q15125,Q13363,Q96L58,Q5KU26,Q9UPP1,Q14108,Q7LGA3,O95831,P04066,P08236,Q8IWS0,Q14739,Q32P28,P10644,P01889,P16278,Q9UBM7,P51648,Q8NCH0,P04062,P42858 23 |
| Spastic gait 0.4819157929286371 1.0438643616819892 0.2965481487179626 1.0 0.7977809816807683 20 Q9Y619 1 |
| Protruding tongue 0.5977172672981351 1.0428001790403976 0.2970408484122899 1.0 0.7977809816807683 8 Q10713 1 |
| Abnormality of the calcaneus 0.631186648567592 1.0427309883756295 0.2970729015336006 1.0 0.7977809816807683 6 Q14739 1 |
| Aortic root aneurysm 0.5135701327157637 1.041904271382037 0.2974560636028647 1.0 0.7977809816807683 16 P42858,Q96L58,Q06787,Q7LGA3 4 |
| Protuberant abdomen 0.7023802994061534 1.0416628037198064 0.2975680399584683 1.0 0.7977809816807683 4 P04062 1 |
| Abnormality of the radial head 0.6522835319231889 1.0404926920066409 0.2981110575509913 1.0 0.7982976470798152 5 Q96L58 1 |
| Decreased circulating iga level 0.5971620824644901 1.040480969491408 0.2981165010039595 1.0 0.7982976470798152 8 Q15904,P13051 2 |
| Prominent superficial blood vessels 0.5503613713642821 1.0378793561805866 0.2993262255928666 1.0 0.7984439894620077 12 O75844,P48651 2 |
| Increased muscle lipid content 0.5962847725906073 1.0368166393800993 0.2998213193456451 1.0 0.7984439894620077 8 P23786 1 |
| Skeletal muscle hypertrophy 0.4742495618820539 1.0360223631329404 0.3001917096317785 1.0 0.7984439894620077 37 P10253,P07686,Q10713,P16278,Q7LGA3,P04066 6 |
| Retinal detachment 0.5618231837827611 1.036018631885346 0.300193450322612 1.0 0.7984439894620077 10 P04439,O43505 2 |
| Diaphragmatic weakness 0.8646836659890205 1.0339505067976655 0.3011593015869829 1.0 0.8000140075341619 3 P10253 1 |
| Joint subluxation 0.6284960649848453 1.032273322943615 0.3019440945404461 1.0 0.80014944620054 6 P16278 1 |
| Reduced visual acuity 0.5023517099950661 1.0318345850157369 0.302149614514285 1.0 0.80014944620054 98 P17900,P50897,P07602,Q10713,Q9H061,O43505,P01889,P16278,P06865 9 |
| Facial hemangioma 0.6996644344520646 1.0318039335733096 0.3021639761846559 1.0 0.80014944620054 4 Q9UBM7 1 |
| Weakness of long finger extensor muscles 0.8374816983894627 1.0313562999226875 0.3023737657656229 1.0 0.80014944620054 2 Q13501 1 |
| Long toe 0.5944415825037531 1.0291201654187396 0.3034232112970896 1.0 0.8012008346120847 8 P23786,Q9UPP1 2 |
| Abnormal iliac wing morphology 0.5598684796427537 1.027144224593728 0.3043525568969822 1.0 0.8012837536268742 10 Q96L58,P16278,Q8TAA9 3 |
| Inflammatory abnormality of the eye 0.4666880889146625 1.0266065169742913 0.3046057840916969 1.0 0.801331042792225 34 O95453,P51648,P04080,Q14739,P04439,P01889,P02786,Q9NZ08 8 |
| Posteriorly rotated ears 0.5076740302896195 1.0255698456134814 0.3050943871491749 1.0 0.8014469904902916 91 O43924,Q15392,P42892,Q15022,Q13363,P37268,P62140,Q96L58,Q9Y619,Q7LGA3,P23786,Q10713,O43505,Q9UBM7,P36507,Q8NCH0,Q4J6C6,Q10471,P04062 19 |
| Microretrognathia 0.532081951857173 1.02487675348508 0.3054213446426839 1.0 0.8014469904902916 13 Q8NCH0,Q16625,Q15125 3 |
| Blue irides 0.6175869636524085 1.0234334473887896 0.3061029518011766 1.0 0.8017460800011496 7 Q15056,Q05086,P10644 3 |
| Sparse body hair 0.5930337449304319 1.0232435906187014 0.3061926874157687 1.0 0.8017460800011496 8 P53634,Q06787,P04080 3 |
| Telecanthus 0.4615871867442335 1.0216879279194526 0.3069286265700337 1.0 0.8025191243855754 32 O75844,Q86XL3,P36507,Q15125 4 |
| Aplasia hypoplasia of the clavicles 0.5527130996396405 1.0194547729539165 0.307987114156119 1.0 0.8030477449084205 11 O75844,Q9Y619 2 |
| Overgrowth 0.6957849358654042 1.017738329663923 0.3088023266100854 1.0 0.8032309339075302 4 Q15022 1 |
| Delayed puberty 0.4841637970368055 1.0164688989776285 0.3094061504918768 1.0 0.8032309339075302 44 O75844,P06280,P04062,Q14108 4 |
| Abnormality of the pulmonary vasculature 0.4641712517808555 1.0160127136377108 0.3096233323663162 1.0 0.8032309339075302 26 Q7LGA3,P42858,Q15392,P62140 4 |
| Abnormal circulating fatty acid anion concentration 0.5453831136261216 1.0140568918306492 0.3105556061888754 1.0 0.8037107611086173 12 O43772,P23786 2 |
| Abnormality of salivation 0.4728073522765432 1.0123682147042528 0.3113620300990702 1.0 0.8037107611086173 38 Q9NR77,Q14739,Q15165,P01889,Q92804,P15586,Q13501,Q05086,Q8N0X7 9 |
| Abnormality of adrenal morphology 0.4660828969243795 1.0115173564112228 0.3117688782995138 1.0 0.8037107611086173 22 O75844,P38571,P10644 3 |
| Dermatological manifestations of systemic disorders 0.5041682512371815 1.010985583137397 0.3120233300166779 1.0 0.8037107611086173 61 O75844,O43772,Q969Y2,Q15904,Q16625,Q14739,P10644,O15118,P04066,O14936 10 |
| Increased circulating antibody level 0.5445035195723871 1.00984996495199 0.3125671776097545 1.0 0.8037107611086173 12 Q14108,P04062 2 |
| Abnormal anterior eye segment morphology 0.3873971854643843 1.005216902842493 0.3147924178054364 1.0 0.8051419480903983 252 O75844,Q06136,P06280,P04439,P10619,Q15125,Q13363,P34913,Q8N2K0,P11166,Q96L58,Q14839,Q7LGA3,Q05086,P04066,P23786,O14936,P08236,Q8IWS0,P01130,O00400,Q14739,P10644,Q10713,O43505,P01889,P16278,Q13510,O95453,Q9UBM7,P51648,P36507,Q8NCH0,Q16625,Q10471,P04062,P42858 37 |
| Poor head control 0.5041047986413791 1.004821404967879 0.3149828549729498 1.0 0.8051419480903983 62 P17900,P07602,Q5KU26,Q10713,P06865 5 |
| Dilated cardiomyopathy 0.4673613593747424 1.002295174119031 0.3162010526320837 1.0 0.8051419480903983 36 P13473,P43897,Q9NX14,P40939,O75306,P16278,Q14126,P23786 8 |
| Respiratory failure 0.5020486608640357 1.001535069579286 0.3165681942552745 1.0 0.8051419480903983 60 Q5T440,Q969Y2,P10253,Q15165,P07602,P43897,Q9Y619,Q70HW3,Q9NX14,P40939,O75306,Q92804,Q13501,Q13510,P23786 15 |
| Heat intolerance 0.6203413163285034 1.0006267624261609 0.3170072865998241 1.0 0.8051419480903983 6 Q05086 1 |
| Subcutaneous nodule 0.5056924395039836 0.9987817523989012 0.3179004274875265 1.0 0.8051419480903983 16 O75874,P06280,P11802,P01889,P35637,Q13510,Q9NZ08 7 |
| Abnormal testis morphology 0.3539486476262273 0.9984622682230304 0.3180552521756443 1.0 0.8051419480903983 176 O43924,Q01844,Q06136,P48651,Q9Y487,Q15125,P51114,Q13363,Q15022,P37268,P62140,Q5KU26,Q86XL3,P51809,Q9UPP1,Q9Y619,Q14839,Q06787,Q7LGA3,Q8IWS0,P10644,Q8TAA9,O43505,P01889,O95453,Q9UBM7,P36507,Q8NCH0,P42858 29 |
| Abnormal pulmonary thoracic imaging finding 0.5021960943671888 0.9976640596678894 0.3184422865525271 1.0 0.8051419480903983 17 Q96L58,P04062,P01889,Q13510 4 |
| Impaired tactile sensation 0.6195315656694607 0.9974887129290962 0.318527349768912 1.0 0.8051419480903983 6 Q9NR77,O15269 2 |
| Abnormal circulating ferritin concentration 0.6901196590499796 0.9972374255978628 0.3186492787961783 1.0 0.8051419480903983 4 P41440,P36551 2 |
| Xanthomatosis 0.8533985284971419 0.9964114788087138 0.3190502579756531 1.0 0.8051419480903983 3 P34913 1 |
| Decreased fertility in females 0.6405173377338413 0.9961127441725772 0.3191953684326334 1.0 0.8051419480903983 5 O00170,P51809 2 |
| Functional abnormality of the gastrointestinal tract 0.377402086381669 0.9945266198362844 0.3199665522866959 1.0 0.8051419480903983 228 P05067,Q01844,P07602,P06280,Q99720,O15269,P15586,P42892,Q13363,P08183,Q9Y619,Q14108,Q06787,O75306,Q8IZA0,Q05086,Q9NR77,Q9HA77,Q14739,P27635,O15118,P01889,Q13501,P35637,Q13510,Q9NZ08,O95453,Q9UBM7,P36507,O75874,P04062,P42858,Q8N0X7 33 |
| Aplasia hypoplasia involving the sinuses 0.6892404972596626 0.9940604203852524 0.3201934529679557 1.0 0.8051419480903983 4 P04066 1 |
| Ectopic anus 0.5411750063080291 0.993937152900457 0.3202534652067155 1.0 0.8051419480903983 12 Q15022,P48651,Q14839 3 |
| Respiratory tract infection 0.4322873910092966 0.9930559490961904 0.3206826896159356 1.0 0.8051419480903983 133 P53634,P10253,P07602,Q13363,Q13510,P54802,Q13432,P04062,P01889,P02786,P16278,P15586,P13051,P04066,P08236 15 |
| Thin lower lip vermilion 0.8265007320644276 0.9907627961835545 0.321801419746909 1.0 0.8051419480903983 2 Q7LGA3 1 |
| Ovarian gonadoblastoma 0.8261346998535899 0.989414685969086 0.3224602921131856 1.0 0.8051419480903983 2 P51809 1 |
| Female external genitalia in individual with 46 xy karyotype 0.8261346998535899 0.989414685969086 0.3224602921131856 1.0 0.8051419480903983 2 P51809 1 |
| Hypoplasia of the vagina 0.8261346998535899 0.989414685969086 0.3224602921131856 1.0 0.8051419480903983 2 P51809 1 |
| Gonadoblastoma 0.8261346998535899 0.989414685969086 0.3224602921131856 1.0 0.8051419480903983 2 P51809 1 |
| Abnormal sex determination 0.8261346998535899 0.989414685969086 0.3224602921131856 1.0 0.8051419480903983 2 P51809 1 |
| Supernumerary tooth 0.6083125602749991 0.9867372157449112 0.3237714806428808 1.0 0.8051419480903983 7 Q9UBM7 1 |
| Mitral stenosis 0.8503354529914431 0.9862596293846778 0.3240057248241399 1.0 0.8051419480903983 3 O75844 1 |
| Aortic valve calcification 0.8503354529914431 0.9862596293846778 0.3240057248241399 1.0 0.8051419480903983 3 O75844 1 |
| Short palm 0.5079961745916265 0.9860706175650712 0.3240984608821873 1.0 0.8051419480903983 14 P48651,Q9Y619 2 |
| Gait imbalance 0.4910627228127483 0.9848259406463612 0.3247095762517724 1.0 0.8051419480903983 18 Q9NR77,Q14839,O15269,P42858,Q05086 5 |
| Abnormality of lower lip 0.4927782131882789 0.978177653081296 0.3279864669132233 1.0 0.8075971014791713 54 P11166,P62140,P06280,Q9Y619,P62266,O60701,P04062,P15586,Q7LGA3,P04066 10 |
| Arthralgia 0.4554587095672118 0.97806670048248 0.3280413360063567 1.0 0.8075971014791713 29 P06280,P01130 2 |
| Bowing of the legs 0.4695586651513101 0.9764349221142976 0.3288489827712448 1.0 0.8086982107821079 39 P36507,Q32P28,Q96L58,Q9Y619,P16278,Q7LGA3,P08236 7 |
| Metaphyseal cupping 0.8469425119004029 0.9750343010428412 0.3295432456433385 1.0 0.8095183833865917 3 O95831,Q14739 2 |
| Patchy changes of bone mineral density 0.6832054456788148 0.9722858208685689 0.3309083757889259 1.0 0.811096007941398 4 Q14739 1 |
| Lacrimal duct stenosis 0.8451236222938681 0.9690254403779208 0.332532496142931 1.0 0.8134134331588977 3 P48651 1 |
| Weight loss 0.4975823625349059 0.9689326396118566 0.3325787989854227 1.0 0.8134134331588977 60 O75844,Q01844,P10644,P07602,P35610,Q99720,P04062,P38571,P01889,P42858,P42892 11 |
| Limitation of joint mobility 0.503363271005946 0.967744354602678 0.3331720604968082 1.0 0.8144205923255312 86 O75844,P51648,Q96L58,Q8TAA9,P54802,P01889,P16278,P48651,P15586,Q7LGA3,P23786,P37268,P08236 13 |
| Diffuse cerebellar atrophy 0.6114023978803691 0.9660351150250835 0.3340266101586764 1.0 0.8151775021164436 6 Q06787 1 |
| Vascular skin abnormality 0.4962592854694393 0.9630255375381735 0.3355347076923698 1.0 0.8171405478225074 96 O75844,Q06136,P06280,P10619,P48651,Q9Y487,Q15125,Q96L58,Q9NX14,Q14108,Q8IZA0,P04066,Q14739,P10644,P01889,P16278,O95453,Q9UBM7,P51648,Q8NCH0,Q16625,P04062 22 |
| Abnormal circulating metabolite concentration 0.4004367888266765 0.9629765814055457 0.3355592757657935 1.0 0.8171405478225074 301 O75844,P05067,P07602,P06280,Q15392,Q15125,P37268,P34913,P10253,P13473,Q96EY8,P35610,Q9Y619,O95831,P23786,O14936,P00367,O43772,P01130,Q15904,O00400,Q14739,P10644,O43505,P40939,P38571,Q14126,Q9UBM7,Q4J6C6,P43897,Q5JRX3 31 |
| Hypertrophic nerve changes 0.8184480234260642 0.9611842756318744 0.3364595212384531 1.0 0.8175583818723213 2 Q9NR77 1 |
| Abnormality of upper limb joint 0.4988860566673812 0.9582817482492012 0.3379207047932147 1.0 0.8181470778702953 92 O75844,Q8IZA0,P10644,Q96L58,O95831,Q9Y619,Q13510,Q15392,P48651,P16278,Q15125,Q7LGA3,P42892,Q13363,P23786,P37268 16 |
| Nail dysplasia 0.4549480134364145 0.9555501739685068 0.339299544902756 1.0 0.818767106505777 26 P42892,P48651,Q9Y619,P10321 4 |
| Abnormal toenail morphology 0.4676849539948949 0.9503166049424796 0.341951404104525 1.0 0.8226547501380631 40 O95453,O75844,P04080,Q14739,Q15022,P23786 6 |
| Rigidity 0.480901871852028 0.9497132480204904 0.3422579763373938 1.0 0.8226547501380631 48 P07602,Q06787,Q15392,P04062,P16278,O14936 6 |
| Abnormal peripheral nervous system physiology 0.4762197913680527 0.9492708848493058 0.3424828575352903 1.0 0.8226547501380631 45 Q9NR77,Q8N2K0,P31930,P07602,Q99720,Q9Y619,O15269,Q15125,O95831 9 |
| Abnormality of the clitoris 0.4661296717789429 0.9478010705961428 0.3432307354142387 1.0 0.8226547501380631 20 Q9UBM7,P50542,P51809,Q9Y619,Q9NX14,Q96GM8 6 |
| Status epilepticus 0.4633595085444259 0.9468035303661676 0.3437389024975235 1.0 0.8226547501380631 38 P11166,P07602,Q9NX14,Q15392,Q9Y487,P42892,Q13510 7 |
| Pneumothorax 0.6062841631436742 0.9462822895046494 0.3440046240983068 1.0 0.8226547501380631 6 Q96L58 1 |
| Abnormal social behavior 0.492595474800879 0.946060822408958 0.3441175647378327 1.0 0.8226547501380631 58 P05067,P11166,P07602,Q5KU26,Q10471,Q9NX14,Q06787,Q15125 8 |
| Aplasia hypoplasia of the skin 0.4871008291361061 0.946032071961866 0.3441322282174877 1.0 0.8226547501380631 53 P53634,O75844,O95453,P10644,Q96L58,Q9Y619,Q06787,Q15392,P48651,Q15125,Q13363 11 |
| Abnormal heart valve morphology 0.4955782136297544 0.9422023153896728 0.3460890687242761 1.0 0.8250306132365883 62 O75844,P36507,P10644,Q96L58,P06280,Q06787,P04062,P01889,P16278,Q13363,P37268,P08236 12 |
| Long eyelashes 0.4500682617876798 0.9417255965154968 0.3463331466529133 1.0 0.8250306132365883 29 Q5KU26,Q9Y619 2 |
| High pitched voice 0.573254236837577 0.9409145554367618 0.3467486478960939 1.0 0.8250306132365883 8 O75844 1 |
| Mitochondrial respiratory chain defects 0.8360977755618926 0.939303513908131 0.3475749350005932 1.0 0.8250306132365883 3 Q4J6C6 1 |
| Abnormality of iron homeostasis 0.625297925851794 0.9390152619713708 0.3477229085218196 1.0 0.8250306132365883 5 P28288,Q6PGP7,Q15477 3 |
| Periventricular heterotopia 0.5725545289751102 0.9380118051255824 0.3482383434060052 1.0 0.8250306132365883 8 Q9UBM7 1 |
| Nasolacrimal duct obstruction 0.6037954858228863 0.9366933638443684 0.348916310786223 1.0 0.8254804442849598 6 P48651,P62140 2 |
| Increased head circumference 0.4939381096004671 0.935975340008485 0.3492858845683746 1.0 0.8255135807685879 95 O75844,P07602,Q15392,P48651,Q15022,O14646,P11166,P62140,Q14839,Q06787,Q7LGA3,Q05086,P08236,Q8IWS0,Q14739,Q10713,O43505,P36507,P07686,P49770,P42858 21 |
| Cutis laxa 0.4506027431442048 0.932356461908754 0.3511523372603746 1.0 0.8263259386141033 27 P36507,Q8NCH0,Q15904,Q96L58,P48651,Q9Y487,Q15022 7 |
| Abnormal ossification involving the femoral head and neck 0.8334109911234562 0.9304882360322568 0.3521183522607072 1.0 0.8276716495353458 3 Q14739 1 |
| Abnormal pulmonary interstitial morphology 0.4483008281174312 0.9298165079714922 0.3524660976299554 1.0 0.8276716495353458 29 Q13432,Q14108,P04062,Q8IZA0,Q13510 5 |
| Chorioretinal dysplasia 0.6713743476062137 0.929788446452034 0.3524806294618678 1.0 0.8276716495353458 4 O43505 1 |
| Spina bifida 0.4521955059589457 0.929132652113355 0.3528203445941726 1.0 0.8276716495353458 24 Q10713 1 |
| Male infertility 0.6711064138647916 0.9288291883136216 0.3529776152430151 1.0 0.8276716495353458 4 Q8IY37,P51809 2 |
| Abnormality of the spinal cord 0.4868198174425798 0.9271620833849936 0.3538423860480624 1.0 0.8283702599758371 55 P05067,O00400,Q10713,Q8TAA9,P16278,Q13363 6 |
| Unilateral renal agenesis 0.4895562016158762 0.9270776296654872 0.3538862299972012 1.0 0.8283702599758371 17 Q7LGA3,Q9UBM7,Q86XL3 3 |
| Abnormal external genitalia 0.3757449283363684 0.9262515907924656 0.3543152471183615 1.0 0.8283702599758371 235 O75844,O43924,Q01844,Q06136,Q15392,P48651,Q9Y487,Q15125,P51114,P42892,Q13363,Q15022,P37268,P62140,Q5KU26,Q86XL3,P51809,Q9UPP1,Q9Y619,Q14839,Q06787,Q7LGA3,O14936,Q8IWS0,P10644,Q10713,Q8TAA9,O43505,P01889,O95453,Q9UBM7,P36507,Q8NCH0,P42858 34 |
| Abnormal size of the clitoris 0.4893017763660949 0.9256591394705268 0.3546231488530134 1.0 0.8283702599758371 17 Q9UBM7,P50542,P51809,Q9Y619,Q9NX14,Q96GM8 6 |
| Osteopenia 0.4906576023734423 0.9250561085261952 0.3549367223559569 1.0 0.8283702599758371 59 O75844,P10644,Q96L58,P07602,Q14108,P04062 6 |
| Neonatal hypoglycemia 0.5451737423224055 0.922574388457388 0.3562290477142558 1.0 0.8308999467150331 9 O43772 1 |
| Multicystic kidney dysplasia 0.4885109448057992 0.9212507439952028 0.3569195307564812 1.0 0.8308999467150331 17 Q10713 1 |
| Abnormal heart valve physiology 0.498374520695075 0.9206470111264112 0.3572347495742991 1.0 0.8311402571744191 73 O95453,O75844,P36507,P01130,Q15904,P62140,P10644,Q96L58,P06280,Q9NX14,P40939,P01889,O75306,Q15125,P16278,P04062,P09493 17 |
| Advanced eruption of teeth 0.5362469278604594 0.9202411773065808 0.3574467405584265 1.0 0.8312025759721338 10 O75844 1 |
| Impotence 0.6198185886887911 0.9185607039860156 0.3583253938242241 1.0 0.8319525956974225 5 P07686 1 |
| Erectile dysfunction 0.6198185886887911 0.9185607039860156 0.3583253938242241 1.0 0.8319525956974225 5 P07686 1 |
| Vertical supranuclear gaze palsy 0.5905470982179392 0.9167608253022536 0.3592679848844327 1.0 0.8332789230807927 7 O15118 1 |
| Abnormal nerve conduction velocity 0.454103648561348 0.9105935958169892 0.3625095460991483 1.0 0.835761179728622 36 Q9NR77,Q8N2K0,P07602,Q99720,Q9Y619,O15269,O95831 7 |
| Titubation 0.542382026110722 0.91036113587246 0.3626320866568786 1.0 0.835761179728622 9 P35637,Q99720,Q5JRX3 3 |
| Papule 0.4894821349214108 0.9102591905053028 0.3626858350302862 1.0 0.835761179728622 16 O75844 1 |
| Exertional dyspnea 0.4893538185366083 0.9095601059840306 0.3630545457990513 1.0 0.835761179728622 16 O75844,P10644 2 |
| Abnormality of hair growth 0.5966398444265129 0.9091847436859668 0.3632526159430451 1.0 0.835761179728622 6 P36507,P04080 2 |
| Macular atrophy 0.5885196371427772 0.9088071175334196 0.3634519488920451 1.0 0.835761179728622 7 P04062 1 |
| Gray matter heterotopia 0.4487055062284621 0.9016906054831026 0.3672212448693468 1.0 0.8377210310217326 22 Q9UBM7,Q86XL3,O43505 3 |
| Insidious onset 0.6632471446072288 0.9007594574653586 0.3677162279663131 1.0 0.8377210310217326 4 P04062 1 |
| Short sternum 0.8008784773060011 0.897284269533558 0.3695672481800698 1.0 0.8390242731242689 2 O60566 1 |
| Mask like facies 0.5390158271174988 0.8956535677603 0.3704378163796527 1.0 0.8393131462779857 9 Q06787,P04062 2 |
| Abnormal gastrointestinal motility 0.4472533259038387 0.8946053039349254 0.3709981155421129 1.0 0.8396568545400922 23 Q9UBM7,Q01844,P06280,P11802,O76024,P35637 6 |
| Missing ribs 0.5383233917477698 0.8926308879933651 0.3720548723394441 1.0 0.8408203884038021 9 Q8TAA9,Q14739 2 |
| Abnormality of the septum pellucidum 0.4472220552912352 0.8923191071945779 0.3722219156642539 1.0 0.8408203884038021 34 Q96N66,Q15392,P48651,O43505 4 |
| Abnormally large globe 0.6607690044024186 0.8919372513580219 0.3724265665330377 1.0 0.8408203884038021 4 O14936 1 |
| Abnormality of skin pigmentation 0.4795546886684281 0.891909212908148 0.372441596137687 1.0 0.8408203884038021 104 P53634,O75844,P51648,O95453,P36507,P42858,Q14739,Q05086,P07602,P10644,Q06136,P62140,P04062,Q15125,Q7LGA3,Q8IZA0,Q15022 17 |
| Lipodystrophy 0.4425337860563873 0.8905539045048828 0.3731685377036027 1.0 0.8408203884038021 32 O75844,P04066 2 |
| Dysmetria 0.4707984634124882 0.889017222373508 0.373993824009418 1.0 0.8408203884038021 47 Q8N2K0,Q10713,O14773,O75503,Q06787,Q13501,Q8IV08,Q8N0X7,Q5JRX3 9 |
| Abnormal gallbladder morphology 0.4439929440900427 0.8887089675033591 0.3741595103998076 1.0 0.8408203884038021 27 P07602 1 |
| Sclerosis of skull base 0.8204354629321966 0.8881419768876253 0.3744643852873182 1.0 0.8408203884038021 3 Q14739 1 |
| Poikiloderma 0.6593630688808126 0.8869385062009039 0.3751120089075317 1.0 0.8408203884038021 4 O75431 1 |
| Vitritis 0.8198597033397539 0.8862721075005973 0.3754709155474964 1.0 0.8408203884038021 3 P04439 1 |
| Abnormality of the choanae 0.4418035108198119 0.8860762932764088 0.3755764167830517 1.0 0.8408203884038021 29 O75844,Q9UBM7 2 |
| Papilledema 0.5039726159158011 0.8845798471394832 0.376383279924964 1.0 0.8408203884038021 13 Q7LGA3,P04062 2 |
| Cessation of head growth 0.5821053389238652 0.8836950194247725 0.3768608696715292 1.0 0.8408534461699195 7 P49770,Q05086,Q9NR50 3 |
| Morphological abnormality of the corticospinal tract 0.5035194851709878 0.8823291577410936 0.3775988330749322 1.0 0.8418596934129636 13 Q13501,O00400 2 |
| Tetraparesis 0.4453786340661438 0.8796254582984655 0.3790622426956531 1.0 0.8434463783927076 34 P07602 1 |
| Impaired tandem gait 0.5265353930072907 0.8765477712893353 0.3807323182194775 1.0 0.8448370767156975 10 Q7LGA3,Q06787 2 |
| Abnormal shape of the frontal region 0.4902697752153362 0.8722783841726109 0.3830565269214527 1.0 0.8459472890689146 89 O43924,P13073,Q14739,Q4J6C6,Q96L58,Q13363,Q9Y619,Q15392,P48651,P16278,Q15125,P15586,P04066 13 |
| Cold induced muscle cramps 0.8153548021250175 0.8716701423165529 0.3833883532343893 1.0 0.8459472890689146 3 P23786 1 |
| Broad toe 0.4535770669629819 0.8716661176855646 0.3833905494577032 1.0 0.8459472890689146 20 Q7LGA3,Q15125 2 |
| Abnormality of hair pigmentation 0.452840236869747 0.8672077530344819 0.3858281890272537 1.0 0.8486399169375357 20 Q9UBM7,Q05086,P37268,P10644 4 |
| Gait disturbance 0.3840149675672838 0.8666686293867811 0.3861235985709554 1.0 0.8486399169375357 268 Q5T440,O75844,P05067,O43924,P07602,O14773,Q99720,Q96N66,O75503,O15269,Q13363,Q8IV08,P13473,P11166,Q14839,Q9Y619,Q9NR50,Q14108,Q06787,Q7LGA3,Q9BUK6,Q05086,O95831,O14936,Q9NR77,O00400,Q10713,P27635,O15118,P40939,P01889,P16278,Q13501,Q27J81,P35637,Q13510,Q9NZ08,Q4J6C6,P49770,P04062,P42858,Q8N0X7,Q5JRX3 43 |
| Abnormal thyroid stimulating hormone level 0.7917276720351467 0.8643901303734578 0.3873736128044647 1.0 0.8494362520506814 2 P10644 1 |
| Vertigo 0.4424353186727942 0.8639896637088937 0.3875935687074063 1.0 0.8494362520506814 23 P10644,O00170,P06280,P21912,P01889,Q9NZ08 6 |
| Pleural effusion 0.5545435397372689 0.8635953025785246 0.3878102455378331 1.0 0.8494362520506814 8 Q14739 1 |
| Renal dysplasia 0.5310623555853448 0.8609946443417761 0.3892409927666413 1.0 0.8495512370402482 9 O14936,O43505 2 |
| Abnormal sputum 0.6040202732326991 0.8599486538861847 0.3898173469803052 1.0 0.8495512370402482 5 P01889 1 |
| Atlantoaxial abnormality 0.6515891829244078 0.8593865451974267 0.3901272903742507 1.0 0.8495512370402482 4 Q96L58 1 |
| Gastrostomy tube feeding in infancy 0.4417088479005826 0.8593783525687598 0.3901318088483922 1.0 0.8495512370402482 23 P35637,O60701,Q99720,P37268 4 |
| Increased urine alpha ketoglutarate concentration 0.6508991014205421 0.8569482547869272 0.391473482664006 1.0 0.8495512370402482 4 P00367 1 |
| Fluctuations in consciousness 0.6030217667681533 0.8562643283710356 0.3918515876151116 1.0 0.8495739291240058 5 P04062 1 |
| Abnormality of the crus of the helix 0.7891654465593053 0.855231876478463 0.3924227924975434 1.0 0.8495868271726844 2 Q7LGA3 1 |
| Abnormality of cartilage of external ear 0.7891654465593053 0.855231876478463 0.3924227924975434 1.0 0.8495868271726844 2 Q7LGA3 1 |
| Dysphagia 0.4640534867819604 0.8538591614991321 0.393183029628229 1.0 0.8496529149126958 112 P05067,P07602,Q99720,P15586,Q14108,Q06787,O75306,Q05086,Q8IZA0,Q9NR77,Q9HA77,Q14739,O15118,P01889,Q13501,P35637,Q13510,P36507,O75874,O76024,P04062,P42858,Q8N0X7 23 |
| Dicarboxylic aciduria 0.4412477201689522 0.8536791430361358 0.3932827936068137 1.0 0.8496529149126958 21 O43772,P23786,Q96EY8 3 |
| Slurred speech 0.5519316508733465 0.8528592637331224 0.3937373543763336 1.0 0.8496529149126958 8 Q9Y487,P16278,Q8N0X7 3 |
| Ketosis 0.497371115972234 0.8518374816878205 0.3943042999144062 1.0 0.8496529149126958 13 P35610 1 |
| Cerebral cortical atrophy 0.490075375675117 0.8510153438256165 0.3947608293906377 1.0 0.8496529149126958 80 O95453,P36507,P05067,O43924,Q16625,Q5KU26,Q9Y619,O75503,Q06787,P04062,Q13501,Q7LGA3,Q05086,O14936 14 |
| Multiple joint contractures 0.45907225281278 0.850738855073594 0.3949144341595105 1.0 0.8496529149126958 19 O75844 1 |
| Cerebral venous thrombosis 0.7877013177159669 0.8500092457339515 0.395319945916984 1.0 0.8501178329062886 2 P10644 1 |
| Dry skin 0.4372371748971954 0.8493817932231039 0.3956688808243989 1.0 0.8504042936938846 28 P36507,P51648,Q06136,P04066,P37268 5 |
| Abnormal morphology of the radius 0.5159150621153895 0.8490384929730515 0.3958598735117622 1.0 0.8504042936938846 11 Q96L58,P10644 2 |
| Limited elbow movement 0.4348756527695471 0.8461991981084969 0.3974416292128717 1.0 0.8504042936938846 30 Q96J02,Q13642,Q96L58,P48651,Q7LGA3,P23786,P37268 7 |
| Pallor 0.4596314349607801 0.8446515326300218 0.3983054277148494 1.0 0.8508304424484742 44 P11166,O00170,P35610,P21912,Q9H061,Q02978,P62857,P46777,Q9BUK6,P06865,O14936 11 |
| Granulocytopenia 0.6471427630380485 0.8436982736386914 0.3988380324872529 1.0 0.8511393870205473 4 P62857,Q9Y4L1 2 |
| Abnormal temper tantrums 0.5714001337411474 0.8419771693534694 0.3998007329228985 1.0 0.8518444957433983 7 P04062 1 |
| Hypoplasia of the frontal lobes 0.5789829449815247 0.8417659524587924 0.3999189733804233 1.0 0.8518444957433983 6 Q9UBM7 1 |
| Large face 0.4708825583042175 0.8393816525640815 0.4012551763075844 1.0 0.8526119278177583 52 P42858,P36507,O43924,Q6PJG6,Q92643,Q10713,P27635,Q10471,Q9UPP1,Q06787,Q9BUK6,O95352,Q7LGA3 13 |
| Paralysis 0.4605423696006113 0.839354706561703 0.4012702926150928 1.0 0.8526119278177583 45 Q9NR77,P17900,P10253,P11166,Q13642,Q15165,P50402,P21912,P04062,Q92804,Q13501,P35637,P36551 13 |
| Aggressive behavior 0.4786229931074964 0.8376989875230668 0.4021997822303766 1.0 0.8526119278177583 59 Q9UBM7,Q10713,P54802,O75503,Q06787,Q15125,Q13501,P42858 8 |
| Abnormal forearm bone morphology 0.4943160500519067 0.8367218223222904 0.4027489498604384 1.0 0.8526119278177583 13 Q96L58,P10644 2 |
| Hyperconvex nail 0.5473393406056538 0.8340224857406756 0.4042683130153959 1.0 0.854216661399763 8 P42892,P48651,Q9Y619 3 |
| High palate 0.341471120471411 0.8323762402935561 0.4051966088887411 1.0 0.8545687879194878 173 Q5T440,O75844,O43924,P62266,P48651,Q9Y487,Q15125,Q13363,P62140,Q96L58,Q5KU26,Q9Y619,Q7LGA3,O95831,P23786,O14936,P36507,Q8NCH0,Q16625,P04062,P42858 21 |
| Decreased fertility in males 0.5758764442686517 0.8299826151936397 0.4065486129047104 1.0 0.855375990981328 6 O00170,P51809 2 |
| Psychosis 0.4370520892621477 0.8298547094690507 0.4066209342718547 1.0 0.855375990981328 23 P10644,O00170,O15118,O76024,Q13501,Q8N0X7,Q5JRX3 7 |
| Hepatocellular adenoma 0.7818448023426142 0.829198588597258 0.4069920435014933 1.0 0.855375990981328 2 P10644 1 |
| Elevated hemoglobin a1c 0.7818448023426081 0.8291985885972376 0.4069920435015048 1.0 0.855375990981328 2 O75431 1 |
| Hyperactive deep tendon reflexes 0.5458992477822359 0.8281264482775516 0.4075988925501828 1.0 0.8560148946023493 8 Q9NR77,P11166 2 |
| Poor fine motor coordination 0.5751291441439446 0.8271518786169633 0.408150982696926 1.0 0.8566267477945897 6 Q06787 1 |
| Abnormal head movements 0.5153304535868318 0.8263992577018393 0.4085776443800926 1.0 0.8568675084008671 10 Q06787,P11166,Q99720 3 |
| Pain insensitivity 0.8011284622017261 0.8259086265993639 0.4088559266624643 1.0 0.8570506300145445 3 O15269 1 |
| Action tremor 0.4656598152300266 0.8216336782711715 0.4112854156988994 1.0 0.8593337735831753 50 Q9NR77,Q8N2K0,Q9HA77,P04080,P07602,O14773,Q99720,Q14108,Q06787,O75306,Q5JRX3 11 |
| Cerebellar malformation 0.4626180284092678 0.820753596719266 0.4117866349927097 1.0 0.8595540719312361 48 Q8TAA9,P23786,Q15125,O43505 4 |
| Hepatic fibrosis 0.433119506992076 0.8171132961077988 0.4138636852350923 1.0 0.8604563692745215 27 Q10713,P04062,P38571,Q15904 4 |
| Sudden death 0.4347612289327988 0.8153553676726426 0.4148689243640135 1.0 0.8604563692745215 23 Q14126,P01130,P01889 3 |
| Nail dystrophy 0.4320760805401981 0.8151077711571925 0.4150106237563096 1.0 0.8604563692745215 28 P53634,O75844,O95453 3 |
| X linked dominant inheritance 0.4346187436914088 0.8144541288267266 0.415384840421992 1.0 0.8606865945585873 23 Q06787,P13473,Q15125 3 |
| Progressive cerebellar ataxia 0.4418463291922483 0.811862892229173 0.4168703091786825 1.0 0.8629676880045789 37 P42858,P35637,O14773,Q9Y619,O75306,Q9Y487,Q13501,Q9BUK6 8 |
| Abnormality of the dentition 0.342043062489374 0.8104412742054402 0.4176866041080762 1.0 0.863381188501356 177 O75844,P62266,P48651,Q9Y487,Q15125,Q13363,P04080,P62140,Q96L58,Q9Y619,Q7LGA3,Q05086,P04066,P08236,P53634,Q14739,P10644,P16278,O95453,Q9UBM7,P51648,Q92643,P42858,Q8N0X7 24 |
| Chromosome breakage 0.570666598047865 0.8102803960674715 0.4177790398274061 1.0 0.863381188501356 6 P13073 1 |
| Impairment of activities of daily living 0.4595078199038461 0.8096743572701155 0.4181273596098134 1.0 0.863381188501356 47 P07686,P11166,P07602,Q10471,Q99720,Q8TAA9,Q06787,O15269,Q13501,P35637 10 |
| Abnormal anterior horn cell morphology 0.5704613339094231 0.809505726762319 0.4182243101162985 1.0 0.863381188501356 6 Q13510 1 |
| Abnormal hair quantity 0.3443485394374909 0.8077196088496784 0.4192520127710741 1.0 0.8642274187191246 182 O75844,Q06136,P62266,O60701,P48651,Q9Y487,Q15125,P15586,Q15022,P04080,P62140,Q96L58,P51809,Q9UPP1,P54802,Q06787,O75306,P08236,P53634,Q8IWS0,P10644,P01889,P16278,O95453,P36507 25 |
| Onset 0.3994432587976579 0.8064521724250331 0.4199821747385051 1.0 0.8642274187191246 337 Q5T440,O43924,O00584,Q6PJG6,P07602,P06280,Q13642,O14773,P50402,Q96N66,P62857,Q15125,P06865,Q8IV08,O14646,Q8N2K0,P50542,P11166,Q96EY8,P50897,P04080,P62140,Q5KU26,P11233,O75431,P21912,P54802,Q9NX14,Q06787,Q9NR50,Q96GM8,O75306,Q69YN2,Q16637,Q7LGA3,Q13144,O95831,P36551,P23786,Q9NR77,Q15904,O00400,P10644,Q07021,Q10713,P27635,O15118,Q70HW3,O43505,P17096,P52565,P40939,P38571,P16278,Q27J81,Q13510,O95453,Q13057,P07686,P31930,Q4J6C6,Q92643,P49770,O76024,P04062,O95352,Q8N0X7,Q5JRX3 68 |
| Abnormality of the palpebral fissures 0.3391897478695538 0.8055349380243302 0.4205110533227025 1.0 0.8645229534183643 172 O75844,Q15392,O60701,Q9Y487,Q15125,Q13363,Q15022,O14646,P62140,Q5KU26,Q86XL3,Q9UPP1,Q9Y619,Q7LGA3,Q05086,O14936,Q8IWS0,Q9UBM7,P36507,Q8NCH0,Q10471,P42858,Q8N0X7 23 |
| Extrapyramidal dyskinesia 0.7942809738626724 0.8040876281016268 0.4213463691608123 1.0 0.864536309704767 3 P35610 1 |
| Bilateral sensorineural hearing impairment 0.4328425569073381 0.8019805338010918 0.4225642186672536 1.0 0.8651771046435375 22 P35637,P07602,Q13501 3 |
| Abnormality of fontanelles 0.4460568852021154 0.8002076472411875 0.4235904998562438 1.0 0.8665022725510034 40 O75844,Q8NCH0,Q32P28,Q9Y619,P48651,Q15125 6 |
| Abnormality of the nail 0.4732245171563063 0.7971760025436828 0.4253488210204326 1.0 0.8683996996977108 100 O75844,Q06136,P48651,Q9Y487,Q15125,P42892,Q13363,Q15022,P04080,P62140,Q96L58,Q9Y619,P04066,P23786,O14936,P53634,Q14739,P10644,O95453,P36507,P10321 21 |
| Late onset 0.5159197245073002 0.7954325306131185 0.4263619432166614 1.0 0.8691653341306053 9 P17096,O76024,P31930 3 |
| Alopecia 0.443280814128135 0.7943001919646644 0.4270206923175412 1.0 0.8695412282763726 39 O95453,O75844,P04080,Q06136,Q9NPE3,P01889,P48449,Q15125 8 |
| Abnormality of fluid regulation 0.4037990940319336 0.7933332132398573 0.4275837109081748 1.0 0.8697011223158223 137 Q5T440,P06280,P04439,P10619,Q15125,Q96EY8,P35610,Q14108,P23786,P08236,Q14739,P10644,P40939,P01889,P16278,Q13510,Q9UBM7,P36507,P04062 19 |
| Fever 0.4821452319353031 0.7914510332945384 0.4286808397288761 1.0 0.8713062286651944 76 Q5T440,Q9NR77,P10253,Q14739,P10644,P07602,P06280,P35610,Q9NR50,P52565,P49770,P38571,Q27J81,P01889,Q13510,P23786,O14936 17 |
| Olivopontocerebellar hypoplasia 0.6318681318681332 0.7902402598739873 0.4293874680613654 1.0 0.8713948736817129 4 Q9UNW1,Q96GM8,Q9Y5P6 3 |
| Abnormality of temperature regulation 0.4786033338308884 0.7895930360752204 0.4297654765387744 1.0 0.8715713776348936 92 Q5T440,P07602,P06280,P10253,P35610,Q9NR50,Q05086,P23786,O14936,Q9NR77,O43772,Q14739,P10644,P52565,P01889,P38571,Q27J81,Q13510,P36507,P49770 20 |
| Perseveration 0.5571499343633355 0.7868880314089767 0.4313474144154612 1.0 0.87304044382614 7 Q13501 1 |
| Abnormal sensory nerve conduction velocity 0.5836882453623458 0.7854812588958777 0.432171454215315 1.0 0.8740808862182666 5 O15269 1 |
| Hyperextensible skin 0.4691830618986987 0.7837412929390889 0.433191927699418 1.0 0.8757501673490938 14 P04062,P36507,Q96L58 3 |
| Fatigue 0.4782579858133392 0.7803889714906007 0.435161957373313 1.0 0.8785455981517898 69 Q14739,Q15165,Q07021,P07602,P06280,P10644,Q4J6C6,Q70HW3,P04062,P01889,Q92804,Q13501,P35637 13 |
| Reduced tendon reflexes 0.396797284048976 0.7767543923072979 0.4373036893464368 1.0 0.8805688495185947 139 Q5T440,P07602,Q99720,O60701,O15269,P51114,Q8N2K0,P10253,P35610,P54802,Q06787,Q9BUK6,O95831,Q9NR77,Q9HA77,Q10713,Q8TAA9,O43505,P40939,Q27J81,Q13501,P35637,Q13510,O95453,P04062 25 |
| Abnormality of the foot musculature 0.7664714494875522 0.7752211117882336 0.4382090152215172 1.0 0.8805688495185947 2 P50570 1 |
| Coxa vara 0.4997534849369481 0.775138399460566 0.4382578833530095 1.0 0.8805688495185947 11 P50542,P26373,Q96AY3,Q99575,Q9Y487,O95831 6 |
| Prematurely aged appearance 0.4343748618995177 0.7747040160208564 0.4385145773881183 1.0 0.8805688495185947 36 O95453,O75844,P36507,P48651,Q9Y487 5 |
| Abnormal circulating nitrogen compound concentration 0.4539026592880304 0.7704247579573678 0.4410479719275848 1.0 0.8805688495185947 47 O43772,Q96EY8,P35610,Q10471,Q9Y619,P40939,P23786,P00367 8 |
| Abnormal male reproductive system physiology 0.4266801973687052 0.7681862137505697 0.4423765627436771 1.0 0.8805688495185947 25 P07686,O00170,P51809,O76024,Q06787,P04062,Q8IY37 7 |
| Abnormality of the urinary system physiology 0.3637529078480393 0.7678900015313159 0.4425525380240651 1.0 0.8805688495185947 231 P06280,P15586,P10253,Q96EY8,P35610,Q9Y619,P54802,Q14108,P04066,P23786,O14936,P08236,P00367,O43772,P10644,Q10713,Q8TAA9,P40939,P01889,P16278,Q16625,Q4J6C6,P04062 23 |
| Venous thrombosis 0.4801100980134377 0.766803956353037 0.4431980837426206 1.0 0.8809419800236199 13 O75874,P01889,P10644 3 |
| Broad distal phalanx of finger 0.5587625513842509 0.7655686517361628 0.4439330030937465 1.0 0.8810767687677028 6 Q96L58 1 |
| Hyperhidrosis 0.4225882274017072 0.7631065178976485 0.4453998732104041 1.0 0.882304901177709 30 O95453,P36507,P07686,O00170,P21912,Q9NPE3,P01889,P04066 8 |
| Micropenis 0.4572946169103646 0.7626467988810895 0.4456740666153891 1.0 0.882304901177709 50 Q8IWS0,Q9UBM7,Q10713,P51809,Q14839,Q9Y619,O43505,P42892,O14936 9 |
| Abnormal peripheral action potential amplitude 0.5503994487369377 0.7609980800394371 0.44665821402356 1.0 0.8828177985959635 7 O15269,O15270,O60231,P31930 4 |
| Abnormality of the nasal alae 0.4212266323922138 0.7604463064522887 0.4469878527572151 1.0 0.8829583992844988 129 O43924,Q15392,Q9Y487,P15586,P11166,P62140,Q96L58,Q5KU26,Q9UPP1,Q7LGA3,O95831,O14936,P10644,Q10713,P16278,Q9UBM7,P36507,Q16625,P04062 19 |
| Cupped ribs 0.5572754495834855 0.7600155209805636 0.4472453073443159 1.0 0.8830782839248965 6 Q96L58 1 |
| Sparse hair 0.4736418138956891 0.7593500330255207 0.4476431952084887 1.0 0.8834752243164896 66 P53634,O75844,Q8IWS0,O95453,P36507,Q14696,P04080,P62140,O75431,Q96L58,P51809,Q9NPE3,Q06787,P48651,Q9Y487,P48449,Q15125 17 |
| Absent hypoplastic paranasal sinuses 0.7790608357683246 0.7561150395387702 0.449580225607141 1.0 0.8865184765047668 3 P04066 1 |
| Intellectual disability progressive 0.4906752050557157 0.7549799413252477 0.4502610177778621 1.0 0.8868092678681709 12 Q05086,O95831 2 |
| Abnormal inflammatory response 0.3535188887151076 0.7548087241517245 0.4503637585141307 1.0 0.8868092678681709 209 P04439,Q13432,P02786,Q15125,P11717,Q13363,P08183,Q9Y619,Q06787,P13051,P08236,P53634,Q14739,P10644,Q92542,P01889,P16278,Q13510,O95453,Q9UBM7,P51648,P10321,P04062 23 |
| Purpura 0.4580951365442706 0.7528733245092051 0.4515260393050544 1.0 0.8872501167556307 17 P04062,Q16625,P10644 3 |
| Back pain 0.442287106754789 0.7527433825096915 0.45160413513267 1.0 0.8872501167556307 19 Q8TAA9 1 |
| Abnormally lax or hyperextensible skin 0.4331366282131397 0.7520123453161593 0.4520436347082517 1.0 0.8872501167556307 37 O95453,P36507,Q8NCH0,Q15904,Q96L58,P04062,P48651,Q9Y487,Q15022 9 |
| Akinesia 0.5269130399379376 0.7509537629105693 0.452680482814594 1.0 0.8872501167556307 8 P04062 1 |
| Muscle fiber atrophy 0.4499432489004644 0.7503389774599328 0.453050573103571 1.0 0.8872501167556307 18 P35637,P23786,Q13642,Q99720 4 |
| Eeg with generalized slow activity 0.505273524151958 0.7497483946993538 0.4534062545990232 1.0 0.8872501167556307 9 O75503,Q13501 2 |
| Abnormal lacrimal duct morphology 0.5265070364678575 0.7493161568148549 0.4536666719194955 1.0 0.8872501167556307 8 Q9NX14,P48651,P62140 3 |
| Accelerated skeletal maturation 0.5262816547061224 0.7484073359931936 0.454214498968698 1.0 0.8874682940232985 8 Q15022,P10644 2 |
| Impaired temperature sensation 0.5539113289914154 0.7474817493060306 0.4547728154123946 1.0 0.8877023849338518 6 Q9NR77,O15269,P07686 3 |
| Abnormality of peripheral nerves 0.4361132836118614 0.7449440198550652 0.4563055622710661 1.0 0.8884654065445351 39 Q9NR77,Q8N2K0,P31930,P07602,Q99720,Q9Y619,O15269,O95831 8 |
| Emg myopathic abnormalities 0.4225740388973934 0.7445919541054441 0.4565184333916054 1.0 0.8884654065445351 26 P13473,Q13642,P50402,Q13501,Q9BUK6,P51114 6 |
| Abnormality of finger 0.3584511403887542 0.7440156916127809 0.4568669820434892 1.0 0.8884654065445351 222 O75844,O43924,Q06136,P62266,P48651,Q15125,P42892,Q13363,Q15022,Q96L58,Q86XL3,Q9UPP1,Q9Y619,Q7LGA3,Q05086,O95831,P23786,O14936,P53634,Q8IWS0,Q14739,P10644,Q10713,Q13510,O95453,Q9UBM7,Q8NCH0,P13073,P42858,Q8N0X7 30 |
| Abnormality of the parathyroid morphology 0.6183946987229831 0.7437185327554819 0.4570467750767786 1.0 0.8884654065445351 4 P10644 1 |
| Neoplasm of the parathyroid gland 0.6183946987229831 0.7437185327554819 0.4570467750767786 1.0 0.8884654065445351 4 P10644 1 |
| Parathyroid adenoma 0.6183946987229831 0.7437185327554819 0.4570467750767786 1.0 0.8884654065445351 4 P10644 1 |
| Thin nail 0.7569546120058637 0.7423220008913782 0.4578922650038932 1.0 0.8884654065445351 2 Q15022 1 |
| Facial erythema 0.7569546120058597 0.7423220008913647 0.4578922650039014 1.0 0.8884654065445351 2 O00170 1 |
| Skeletal myopathy 0.5706706158465908 0.7385038182324374 0.4602083477805361 1.0 0.8903775138614841 5 P21912,P40939 2 |
| Bowing of the arm 0.5704617610583904 0.7377551822715444 0.4606632324390298 1.0 0.8903775138614841 5 Q96L58 1 |
| Abnormality of corneal size 0.4266333718940093 0.7362390344725326 0.4615852407973397 1.0 0.891008413203639 35 Q96L58,Q13363,Q15125,O43505 4 |
| Abnormality of the abdominal organs 0.3858581931572278 0.7356658920097428 0.4619340516964441 1.0 0.8912983766180743 301 P07602,P10619,Q15392,P15586,P11717,Q13363,P10253,Q96EY8,P35610,Q9Y619,P54802,Q14108,P04066,P23786,O14936,P08236,P53634,O43772,P01130,Q15904,Q14739,P10644,Q10713,O15118,P40939,P01889,P16278,P38571,Q13510,O95453,Q9UBM7,P07686,Q16625,P43897,P04062 35 |
| Polar cataract 0.6158494848724885 0.7350044580988606 0.4623367790535453 1.0 0.8916920775214058 4 Q7LGA3 1 |
| Contractures of the joints of the lower limbs 0.4487151903056213 0.7342085768824003 0.4628216269453453 1.0 0.8922437550389648 47 Q8IWS0,Q8N2K0,P35637,Q13642,Q86XL3,P50402,P27635,Q99720,P48651,Q7LGA3,Q8IZA0,P23786,P37268 13 |
| Abnormal dental pulp morphology 0.5501357787129445 0.7334639046462867 0.4632755351533602 1.0 0.8923380523757349 6 O95453,P06748,Q9NPE3 3 |
| Abnormal dental root morphology 0.5501357787129445 0.7334639046462867 0.4632755351533602 1.0 0.8923380523757349 6 O95453,P06748,Q9NPE3 3 |
| Hemoptysis 0.6153068562748599 0.7331498753757716 0.4634670231924773 1.0 0.8923380523757349 4 P01889 1 |
| Elevated hepatic transaminase 0.4747388606527102 0.7324117866151039 0.4639172668300069 1.0 0.8927162182586235 83 O43772,P10253,Q15904,Q16625,Q14739,Q10713,Q9Y619,P40939,P01889,P38571,P23786 11 |
| Abnormal intestine morphology 0.3312251888799647 0.7312329584469028 0.4646368720630682 1.0 0.8927162182586235 158 O95453,O75844,Q9UBM7,Q14739,P10644,P06280,P08183,Q10713,Q8TAA9,Q15392,P01889,P38571,P42892,Q13363 14 |
| Lack of skin elasticity 0.4588582689541905 0.7306661024211455 0.4649831252916065 1.0 0.8927162182586235 14 O75844 1 |
| Deep palmar crease 0.4726449815326665 0.7303522728869979 0.4651748837905736 1.0 0.8927162182586235 13 P36507,O75431,O00170,Q9Y487,P42345 5 |
| Self mutilation 0.4997298211249755 0.7261189147828235 0.4677658744918938 1.0 0.8946062276259745 9 Q10713 1 |
| Aplasia hypoplasia of the vagina 0.7685982055208818 0.7236008854781888 0.4693107976267097 1.0 0.8946062276259745 3 P51809 1 |
| Abnormality of the amniotic fluid 0.4715404665511263 0.7229142338524871 0.4697325780934744 1.0 0.8946062276259745 71 Q5T440,O75844,Q9UBM7,P62140,Q14739,Q96L58,Q07021,P27635,P40939,P04062,Q15125,Q7LGA3,P51114,P23786 14 |
| Hypertrophic cardiomyopathy 0.4663704411140099 0.7225824805374961 0.4699364348792616 1.0 0.8946062276259745 98 P36507,Q969Y2,P10253,P13473,P62140,P06280,P43897,Q9H061,P54802,Q9NX14,P40939,P01889,P16278,P15586,Q96IX5 15 |
| Aplasia hypoplasia of toe 0.4190404013970779 0.7217865260851395 0.4704257346696301 1.0 0.8946062276259745 26 Q8IWS0,Q9UBM7,P13073,P10644,Q13510,Q7LGA3,Q13363 7 |
| Hemangiomatosis 0.750000000000009 0.7185522936486586 0.4724168164105138 1.0 0.8963803504280996 2 O75874 1 |
| Visceral angiomatosis 0.750000000000009 0.7185522936486586 0.4724168164105138 1.0 0.8963803504280996 2 O75874 1 |
| Lymphangioma 0.750000000000009 0.7185522936486586 0.4724168164105138 1.0 0.8963803504280996 2 O75874 1 |
| Neonatal onset 0.4538144085690866 0.7176870167495342 0.472950290382865 1.0 0.8963803504280996 16 P40939,Q15904,Q96EY8 3 |
| Irregular menstruation 0.5457691936984164 0.7173190809679169 0.4731772363022548 1.0 0.8963803504280996 6 Q06787,P10644 2 |
| Lissencephaly 0.4411208763603023 0.7159638488849525 0.4740136715535255 1.0 0.8963803504280996 44 Q16625,Q86XL3,O43505,Q15392,P23786 5 |
| Functional abnormality of male internal genitalia 0.4358394286019095 0.7154049044731022 0.4743588828225449 1.0 0.8963803504280996 19 O00170,P51809,O76024,P04062,Q8IY37 5 |
| Abnormality of dental structure 0.4653431621683243 0.7150936444032522 0.474551180905455 1.0 0.8963803504280996 63 O95453,O75844,Q9UBM7,P51648,P04080,P62140,Q96L58,P48651,Q9Y487,P16278 10 |
| Eeg with abnormally slow frequencies 0.4531868554523292 0.7143412756319325 0.4750161749988513 1.0 0.8968753022275324 16 O75503,Q05086,Q13501 3 |
| Aplasia hypoplasia of the radius 0.4812077969089202 0.7110224144612123 0.4770703461187464 1.0 0.8987551697073707 12 Q9UBM7 1 |
| Aplasia hypoplasia involving forearm bones 0.4812077969089202 0.7110224144612123 0.4770703461187464 1.0 0.8987551697073707 12 Q9UBM7 1 |
| Symptomatic seizures 0.5169118744700564 0.7107916395985032 0.4772133621685972 1.0 0.8987551697073707 8 P00367 1 |
| Tremor 0.3766824313681298 0.7100487743623459 0.4776738907183224 1.0 0.8988681012762395 144 O43924,P07602,O14773,Q99720,O75503,Q8N2K0,P11166,P04080,Q14108,Q06787,O75306,Q9BUK6,Q05086,O95831,O14936,Q9NR77,Q9HA77,Q10713,P27635,Q13501,P35637,Q13510,P31930,P43897,O76024,P04062,P42858,O95352,Q5JRX3 29 |
| Chest pain 0.4538179552933085 0.7096180179676814 0.4779410432136961 1.0 0.8989938817867009 15 P21912,P01889,P10644 3 |
| Abnormal circulating fatty acid concentration 0.4500790996307329 0.7090414499872456 0.4782987549859552 1.0 0.8992898250427176 17 O43772,P23786 2 |
| Absent thumbnail 0.7637466780691409 0.7086627609933183 0.4785337791330275 1.0 0.8993549416871974 3 O14936 1 |
| Abnormality of the gastric mucosa 0.454219242394431 0.7069686011867835 0.4795859904829014 1.0 0.9005473062018731 14 Q14739 1 |
| Dyslexia 0.5145574124385093 0.7013935323084611 0.4830574571636412 1.0 0.9005473062018731 8 Q13501 1 |
| Abnormal thrombocyte morphology 0.4546006442007196 0.7012983784369786 0.4831168254897537 1.0 0.9005473062018731 107 Q15904,Q16625,Q14739,Q96EY8,P07602,P35610,P10644,Q14108,P04062,P01889,P02786,P38571,Q13510 13 |
| Radial bowing 0.6053949877039009 0.6994811633131442 0.4842513808704951 1.0 0.9005473062018731 4 Q96L58 1 |
| Dilatation of the ventricular cavity 0.7441434846266536 0.6987246213466441 0.4847241438745306 1.0 0.9005473062018731 2 P27635 1 |
| Limb joint contracture 0.4703243357801882 0.6986246944045649 0.4847866069036821 1.0 0.9005473062018731 84 O75844,Q8IZA0,Q96L58,Q86XL3,Q99720,Q9Y619,Q15392,P48651,Q7LGA3,P42892,P23786,P37268 12 |
| Chordee 0.5334502853539191 0.6966880382789127 0.4859980462604607 1.0 0.9012210925430106 7 P48651 1 |
| Neoplasm 0.3412768033447944 0.6952023719614286 0.4869284860672727 1.0 0.902285320177506 191 O43924,Q01844,Q06136,P07602,P10619,Q15392,P11717,P42892,Q13363,P62140,Q96L58,P51809,Q92804,Q7LGA3,P53634,P10644,Q10713,Q8TAA9,Q13501,O95453,Q9UBM7,P36507,O75874,P04062 24 |
| Sparse lateral eyebrow 0.5126520775320508 0.69380505709976 0.4878044707615632 1.0 0.9023251384909184 8 P62140,Q14696,Q92643 3 |
| Epistaxis 0.4648171826916571 0.6923876898927263 0.4886938944060568 1.0 0.9023251384909184 13 P04062,P01889 2 |
| Multiple lentigines 0.5576293819217838 0.6920958254239559 0.4888771531153462 1.0 0.9023251384909184 5 P10644 1 |
| Abnormal paranasal sinus morphology 0.4469404487160328 0.6919630991100184 0.4889605028542587 1.0 0.9023251384909184 17 Q13432,Q06787,P04066 3 |
| Cryptorchidism 0.3868012464162436 0.6914795292656568 0.4892642407712002 1.0 0.9025145551093904 140 O43924,P48651,Q9Y487,Q15125,P51114,Q13363,Q15022,P37268,P62140,Q5KU26,Q86XL3,P51809,Q9UPP1,Q9Y619,Q06787,Q7LGA3,Q8IWS0,P10644,Q8TAA9,O43505,Q9UBM7,P36507,Q8NCH0,P42858 24 |
| Temporal pattern 0.5573178515198198 0.6909960320608303 0.4895680346196625 1.0 0.9027039192165346 5 P04062 1 |
| Thickened skin 0.4658131410081622 0.6884346991066934 0.4911790790279324 1.0 0.9032695478117004 93 O75844,Q06136,Q13642,P06280,P50402,O15269,P48449,Q15125,P50542,O75431,O00170,P04066,P53634,Q14739,P16278,P09493,Q14126,O95453,P36507,P51648,Q9NPE3,P04062,O15270 23 |
| Atrophic scars 0.5312443299311453 0.6883995160579536 0.4912012285072042 1.0 0.9032695478117004 7 P53634,Q96L58 2 |
| Irregular femoral epiphysis 0.7401171303074715 0.6851977213390557 0.4932191615726276 1.0 0.9032695478117004 2 P50542 1 |
| Abnormality of upper limb metaphysis 0.7401171303074645 0.6851977213390328 0.493219161572642 1.0 0.9032695478117004 2 Q9H1A4 1 |
| Chondrosarcoma 0.7560218954958247 0.6850699955520402 0.4932997528257843 1.0 0.9032695478117004 3 O75874 1 |
| Mandibular aplasia 0.6008829319207318 0.6842915150776034 0.4937911037941069 1.0 0.9032695478117004 4 Q9Y619 1 |
| Psoriasiform dermatitis 0.7545619852656306 0.6806386636526238 0.4961001559683726 1.0 0.9041964245058726 3 P01889 1 |
| Nausea and vomiting 0.4323104283516671 0.6805299465199321 0.496168966757069 1.0 0.9041964245058726 120 P05166,Q01844,P07602,P06280,P42892,P11117,Q96EY8,P35610,Q9Y619,Q9NX14,O75306,Q8IZA0,P23786,Q15165,P40939,P01889,P38571,Q13501,Q9UBM7 19 |
| Abnormality of the biliary system 0.4604577887804734 0.6792168087796572 0.4970004985035756 1.0 0.9041964245058726 99 Q9UBM7,Q15904,Q16625,Q14739,P10644,P07602,Q10713,O15118,Q13363,Q14108,P04062,P40939,P38571,P04066,O14936 15 |
| Heterotropia 0.4319422374003468 0.6772905078601265 0.4982216522347977 1.0 0.9041964245058726 42 O43924,Q5KU26,P04062,P40939,Q05086 5 |
| Renal insufficiency 0.4631173985736908 0.6769652593993158 0.4984279967023044 1.0 0.9041964245058726 67 P06280,Q10713,Q8TAA9,Q14108,P01889,P23786 6 |
| Motor seizure 0.4677472973025954 0.6768317989357551 0.4985126799771269 1.0 0.9041964245058726 82 P07686,P13073,P07602,Q9Y619,Q96N66,O75503,P04062,O60701,P16278,Q05086,O14936 11 |
| Aortic aneurysm 0.4278788910228126 0.6752143424553493 0.499539595666687 1.0 0.9041964245058726 40 P42858,O75844,Q96L58,Q06787,P01889,Q7LGA3 6 |
| Abnormal cerebellar vermis morphology 0.459784905351591 0.6747549328895034 0.4998314773787546 1.0 0.9041964245058726 63 O43924,Q10713,O43505,Q15125,P23786 5 |
| Irregular hyperpigmentation 0.4488741843931031 0.6744141917316064 0.5000480226433992 1.0 0.9041964245058726 53 P42858,O75844,P36507,O95453,P62140,Q14739,Q06136,P10644,Q7LGA3 9 |
| Decreased circulating igg level 0.4767783006223979 0.6717088652502196 0.5017690564670472 1.0 0.9060031905610424 11 Q15904 1 |
| Pituitary growth hormone cell adenoma 0.7506722454386558 0.6688759753471727 0.5035745967209178 1.0 0.908718160022109 3 P10644 1 |
| Nephrolithiasis 0.4444570999357342 0.6680069343657569 0.5041291661028049 1.0 0.908718160022109 16 O00170,Q8NCH0,Q4J6C6 3 |
| Decreased testicular size 0.4274358399769584 0.6670647778245998 0.5047307572202289 1.0 0.908718160022109 19 Q8IWS0,P51809,Q9UPP1,O43505,Q06787 5 |
| Abnormality of the calf 0.4390349297421367 0.6669743200213574 0.5047885367517657 1.0 0.908718160022109 47 P36507,Q32P28,Q96L58,Q9Y619,P16278,Q7LGA3,O95831,P08236 8 |
| Abnormal lung development 0.4284487158828335 0.6660935917042088 0.5053512803312437 1.0 0.909024667786221 41 O75844,Q9UBM7,Q14739,Q8TAA9,Q13363 5 |
| Abnormality of cardiovascular system electrophysiology 0.4595973917678719 0.6648835328200566 0.5061249889971609 1.0 0.9100516629083564 98 O43772,P10253,P13473,P01130,P07602,P06280,P01889,Q14126,P42892,P23786 10 |
| Preaxial polydactyly 0.4749769468088904 0.6637002762902415 0.506882162507369 1.0 0.9102498050275492 11 Q13363,O43924 2 |
| Webbed neck 0.40845141498522 0.6635417397660064 0.5069836562582799 1.0 0.9102498050275492 29 O75844,P36507,P08708,P28482,P62140,Q07020,P62899,P61313,P62857,P46777,P18077,P41227,Q13363 13 |
| Abnormality of toe 0.3870754585103146 0.6619051167705698 0.5080320323454521 1.0 0.9106731424758296 139 O75844,O43924,Q99720,Q15125,Q13363,Q15022,P37268,Q96L58,P11233,Q9UPP1,Q7LGA3,P23786,O14936,Q8IWS0,Q9NR77,Q14739,P10644,Q10713,P27635,Q27J81,Q13510,Q9UBM7,P13073,Q10471,P04062,P42858,Q8N0X7 27 |
| Abnormal pyramidal sign 0.4389810257342153 0.661808546765591 0.5080939279767107 1.0 0.9106731424758296 115 Q5T440,P07602,O14773,Q99720,O60701,Q8N2K0,P17900,P11166,Q9Y619,O75306,O95831,P04066,Q9NR77,O00400,P40939,P01889,Q13501,P35637,P51648,P42858,Q8N0X7 21 |
| Small hand 0.4097616127420559 0.6603428360211279 0.5090338468962119 1.0 0.9113782822386778 25 Q06787,Q10471,Q9Y619 3 |
| Abnormality of the ureter 0.4455069054613684 0.6602450943054161 0.5090965582826126 1.0 0.9113782822386778 52 O75844,Q9UBM7,Q86XL3,Q8TAA9,Q7LGA3,P23786 6 |
| Blurred vision 0.7463367772492366 0.6558425955000389 0.5119254064720327 1.0 0.9121779739197634 3 P04439 1 |
| Hypoglycemic seizures 0.522484387340448 0.6556926426275294 0.5120219036846541 1.0 0.9121779739197634 7 P00367 1 |
| Abnormal urine alpha ketoglutarate concentration 0.5283416008700118 0.653678986333975 0.5133186443219566 1.0 0.9121779739197634 6 P00367 1 |
| Foot dorsiflexor weakness 0.4061988584899952 0.6532810286465026 0.5135751206238925 1.0 0.9121779739197634 30 Q9NR77,Q14739,Q13642,Q99720,O15270,O15269,Q27J81,Q13501,P31483 9 |
| Truncal obesity 0.4435117098256392 0.6526884946030477 0.5139571213151477 1.0 0.9121779739197634 14 Q8IWS0,Q06787,Q10713 3 |
| Aplasia hypoplasia involving the skeleton 0.3601076917847775 0.6516393990425983 0.5146338249503581 1.0 0.9121779739197634 241 O75844,O43924,Q15392,P48651,Q15125,Q13363,P37268,Q96L58,Q86XL3,Q9Y619,Q06787,Q7LGA3,P04066,O95831,O14936,P08236,Q8IWS0,Q14739,Q32P28,P10644,Q8TAA9,P16278,Q13510,Q9UBM7,Q8NCH0,P13073,Q16625,O75874,Q10471,P04062,P42858 31 |
| Neurogenic bladder 0.521314670011775 0.6513515433537407 0.5148195829491988 1.0 0.9121779739197634 7 Q8TAA9 1 |
| Intrauterine growth retardation 0.3247324726038468 0.6495830288278244 0.5159615984338273 1.0 0.9123859943936236 164 O75844,Q9UBM7,Q969Y2,O43924,P10644,Q96L58,P43897,Q9Y619,Q06787,Q15392,P04062,P16278,P48651,P40939,Q13363,P37268 16 |
| Hirsutism 0.4410688425400776 0.6491166533226517 0.516262978500674 1.0 0.9125593727889032 50 P54802,P53634,P08236,P15586 4 |
| Abnormality of the parathyroid gland 0.4550619134469745 0.6455029176309136 0.5186013281605293 1.0 0.9136389455266416 13 P40939,P10644 2 |
| Vestibular dysfunction 0.4071060623190988 0.6452738672808521 0.5187497246101669 1.0 0.9136389455266416 26 P06280,P01889 2 |
| Finger syndactyly 0.4061814120229791 0.6447853220666273 0.5190663150900103 1.0 0.9136389455266416 28 Q9UBM7,Q9Y619,P48651,Q05086,Q15022 5 |
| Abnormality of globe size 0.4387958828578225 0.6437095891383807 0.5197637706016667 1.0 0.9136389455266416 49 O43924,P11166,O43505,Q9NX14,Q15125,O14936 6 |
| Renal cortical microcysts 0.7269399707174209 0.6415593486889147 0.5211593346604975 1.0 0.9136389455266416 2 Q8TD19 1 |
| Uncombable hair 0.7269399707174203 0.6415593486889141 0.5211593346604979 1.0 0.9136389455266416 2 Q15477 1 |
| Broad nasal tip 0.4285350508672232 0.6415335578824194 0.5211760852895428 1.0 0.9136389455266416 43 O43924,Q9UPP1,P16278,Q7LGA3,O95831,O14936 6 |
| Specific learning disability 0.4451912607960682 0.6394010818894174 0.5225620453505258 1.0 0.9136389455266416 54 P36507,P11166,P10644,Q10713,Q9Y619,P62266,Q9NX14,O43505,Q06787,P48651,Q13501,P42858,Q8N0X7,P00367 14 |
| Segmental peripheral demyelination remyelination 0.7407271813130966 0.6391036982658181 0.5227554742118894 1.0 0.9136389455266416 3 Q9NR77 1 |
| Abnormal renal morphology 0.3452341635706318 0.6361473619845076 0.5246803780876321 1.0 0.9143399886576232 208 Q9UBM7,P36507,O43924,P01130,Q4J6C6,P10644,P06280,Q10713,Q86XL3,Q8TAA9,O43505,Q14108,Q15392,P01889,Q15125,Q7LGA3,P23786,O14936 18 |
| Abnormal circulating igm level 0.4677449887787032 0.6317206245218558 0.5275694486723115 1.0 0.9143399886576232 11 Q15904 1 |
| Mediastinal lymphadenopathy 0.5849910585766037 0.631541596786022 0.5276864599662128 1.0 0.9143399886576232 4 P01889 1 |
| Gastric ulcer 0.7381256902944626 0.6313901068997283 0.5277854830459221 1.0 0.9143399886576232 3 P04062 1 |
| Increased circulating acth level 0.7229136163982481 0.6284285327349364 0.5297232504557836 1.0 0.9143399886576232 2 O00170 1 |
| Oligohydramnios 0.40469977782198 0.6275350664488024 0.5303085575509088 1.0 0.9143399886576232 24 P51114,Q96L58,P23786 3 |
| Abnormal sarcomere morphology 0.7366078716647557 0.6269043978560837 0.5307219043120497 1.0 0.9143399886576232 3 P51114 1 |
| Abnormal z disc morphology 0.7366078716647557 0.6269043978560837 0.5307219043120497 1.0 0.9143399886576232 3 P51114 1 |
| Renal hypoplasia aplasia 0.4531113219220534 0.6265676035179388 0.5309427097866983 1.0 0.9143399886576232 63 Q9UBM7,O43924,Q86XL3,Q8TAA9,Q15392,Q7LGA3 6 |
| Unsteady gait 0.426276342883592 0.6261079539540177 0.5312441354763764 1.0 0.9143399886576232 43 P11166,Q10713,O75503,Q9NR50,P49770,P42858,O95831,Q5JRX3 8 |
| Keratoconjunctivitis 0.469311521454279 0.6250085063357357 0.531965475217494 1.0 0.9143399886576232 10 Q14739 1 |
| Abnormality of the forehead 0.3579267058721388 0.6244355803024262 0.5323415644534772 1.0 0.9143399886576232 240 O43924,Q15392,P48651,Q9Y487,Q15125,P15586,Q13363,Q15022,O14646,P11166,P62140,Q96L58,Q86XL3,Q9UPP1,Q9Y619,Q06787,Q7LGA3,P04066,O95831,P23786,O14936,Q15904,Q14739,Q10713,P16278,Q9UBM7,P36507,Q8NCH0,P13073,Q16625,Q4J6C6,Q92643,Q10471,P42858 34 |
| Malabsorption 0.4258096711665517 0.6229253256097492 0.5333335946251538 1.0 0.9143399886576232 43 O95453,Q14739,P06280,Q9NPE3,P38571,P01889,Q9NZ08 7 |
| Abnormal circulating igg level 0.4619141595032465 0.6227443637743527 0.533452524398565 1.0 0.9143399886576232 12 Q15904 1 |
| Kinetic tremor 0.4007948547546575 0.6223702128497856 0.5336984623103123 1.0 0.9143399886576232 31 Q06787,P07602,Q8N2K0,Q14108 4 |
| Aplastic hypoplastic toenail 0.4010220090048501 0.6189227220971052 0.5359672689241086 1.0 0.915253085418676 30 O95453,Q14739,P62140,Q15022,P23786 5 |
| Subcutaneous hemorrhage 0.4020082098775167 0.6148918440543782 0.5386261493957636 1.0 0.9173952018745116 32 Q16625,P10644,Q96L58,Q14108,P04062 5 |
| Abnormal diaphysis morphology 0.4389400464028985 0.6144431281720106 0.5389225436451357 1.0 0.9173952018745116 52 P36507,Q14739,Q32P28,Q96L58,Q9Y619,P48651,Q9Y487,P16278,Q7LGA3,Q8N0X7,P08236 11 |
| Arterial thrombosis 0.5168268590663243 0.6124206834720156 0.540259460644847 1.0 0.9173952018745116 6 P01889 1 |
| Abnormality of the elbow 0.4356007002203663 0.6112095854342778 0.5410608383885438 1.0 0.9173952018745116 50 Q96J02,P36507,P50542,P62140,Q13642,Q96L58,P10644,P50402,Q9Y619,P48651,Q7LGA3,Q13510,P23786,P37268 14 |
| Leukopenia 0.4163802243400025 0.6103941229689404 0.5416007603276376 1.0 0.9173952018745116 39 Q14108,P04062,Q15904,P10644 4 |
| Lipoatrophy 0.4091626890180203 0.6068989675641037 0.5439179633347613 1.0 0.9173952018745116 20 P04066 1 |
| Ichthyosis 0.4030438380893704 0.6065219470460106 0.5441682130961563 1.0 0.9173952018745116 33 P36507,P51648,Q13642,P50402,P04062,P48449,Q15125 7 |
| Abnormal circulating progesterone level 0.5149152699622608 0.6056389923724773 0.5447545037868924 1.0 0.9173952018745116 6 P49770,Q9NR50 2 |
| Decreased circulating progesterone 0.5149152699622608 0.6056389923724773 0.5447545037868924 1.0 0.9173952018745116 6 P49770,Q9NR50 2 |
| Abnormal serum iron concentration 0.5769154697768505 0.6052229350881692 0.5450308786849465 1.0 0.9175163479137434 4 Q6PGP7,Q15477 2 |
| Vascular dilatation 0.4388229525226054 0.6041100075760308 0.5457705064686338 1.0 0.9184169602666772 53 P42858,O75844,P10253,P62140,P10644,Q96L58,Q06787,P01889,Q7LGA3 9 |
| Involuntary movements 0.368674259383064 0.599410714066181 0.5488990340570958 1.0 0.9205116691491626 274 P05067,O43924,O00584,P07602,P06280,O14773,Q99720,Q96N66,O75503,O60701,P51114,Q13363,O14646,Q8N2K0,P17900,P11166,P04080,P50897,Q9Y619,Q14108,Q06787,O75306,Q9BUK6,Q05086,O95831,O14936,Q9NR77,Q9HA77,O00400,Q10713,Q13501,Q13510,P07686,P13073,P43897,P04062,P42858,Q96IX5,Q8N0X7,Q5JRX3 40 |
| Depression 0.4577598555914829 0.5992520081415087 0.5490048459122714 1.0 0.9205116691491626 83 Q9BUK6,P35637,Q13057,P11166,P31930,P50897,Q15165,P07602,P06280,P10644,Q96N66,Q06787,P04062,P01889,Q13501,Q92804,P42858 17 |
| Limb myoclonus 0.5295460935379463 0.5948543693330792 0.5519408210309329 1.0 0.9205116691491626 5 Q13510 1 |
| Optic disc pallor 0.4196712128427519 0.5936418698888747 0.5527516704456275 1.0 0.9205116691491626 42 Q96L58,Q10713,P04439,Q9H061,Q9NX14,O75306,O95831,O14936 8 |
| Abnormal circulating iga level 0.4618518566513653 0.5933300238134109 0.5529603094649462 1.0 0.9205116691491626 10 Q15904,P13051 2 |
| Patent ductus arteriosus 0.4521651083779829 0.5919543336016695 0.5538811685998173 1.0 0.9205116691491626 68 O75844,P42892,Q15392,Q9UBM7 4 |
| Basal ganglia gliosis 0.5050749944166892 0.591787382080257 0.55399297363194 1.0 0.9205116691491626 7 O75306 1 |
| Abnormality of muscle size 0.3233598043598435 0.5898444500835943 0.555294939062311 1.0 0.9205116691491626 169 Q5T440,Q13642,P50402,Q99720,O15269,Q9Y487,Q8N2K0,P10253,P13473,P50542,O00170,P21912,Q99575,Q96GM8,Q92804,Q16637,Q7LGA3,Q9BUK6,Q05086,O95831,P04066,Q8IWS0,Q9NR77,O00400,P10644,Q15165,Q10713,O43505,P16278,Q13501,Q27J81,P35637,Q13510,Q13057,P07686,O15270,Q8N0X7 37 |
| Dysdiadochokinesis 0.4293365446819552 0.5888227154460606 0.5559802061490826 1.0 0.9205116691491626 16 O75503,Q06787,Q13501 3 |
| Pulmonary interstitial high resolution computed tomography abnormality 0.5716104207876749 0.5881274019313787 0.5564467817331789 1.0 0.9205116691491626 4 Q13510 1 |
| Elevated circulating follicle stimulating hormone level 0.7231783229586233 0.587706882796815 0.5567290549178785 1.0 0.9205116691491626 3 Q8IY37,P51809 2 |
| Iris coloboma 0.397665077600316 0.5871866865547003 0.5570783328270321 1.0 0.9205116691491626 27 Q9UBM7,Q10713,O43505 3 |
| Nasal speech 0.3979668484605957 0.5862328559949187 0.557719045103845 1.0 0.9205116691491626 25 P42858,Q4J6C6,Q9UPP1,Q9Y487,Q7LGA3 5 |
| Bradykinesia 0.405548801625869 0.5858751741555163 0.5579594015139995 1.0 0.9205116691491626 20 Q13057,Q06787,P04062,P42858,Q96IX5 5 |
| Neuropathic arthropathy 0.722497361117558 0.5857436818130475 0.5580477749053641 1.0 0.9205116691491626 3 O15269 1 |
| Upper extremity joint dislocation 0.4287300913995966 0.5856794219097423 0.5580909651860231 1.0 0.9205116691491626 16 Q96L58,Q9Y619 2 |
| Aplasia hypoplasia of the extremities 0.3695209840393796 0.585332134262478 0.5583244118257109 1.0 0.9205583983371752 143 O75844,Q15392,P48651,Q15125,Q13363,Q96L58,Q9Y619,Q06787,Q7LGA3,O95831,O14936,Q8IWS0,Q14739,Q32P28,P10644,Q13510,Q9UBM7,P13073,O75874,Q10471,P42858 21 |
| Broad palm 0.5088077826792068 0.584109513408043 0.5591466346715837 1.0 0.9212633758990356 6 O95831,Q14739 2 |
| Cholangitis 0.709004392386538 0.5838541116214808 0.5593184687250425 1.0 0.9212633758990356 2 Q96J02 1 |
| Abnormal upper motor neuron morphology 0.4594655738675081 0.5832691757404698 0.5597121095091941 1.0 0.9212698249509848 10 Q99720,Q13501 2 |
| Abnormal eyelash morphology 0.4495391204252061 0.5831649457659466 0.5597822666313137 1.0 0.9212698249509848 66 O95453,O75844,P36507,Q9UBM7,P04080,Q4J6C6,Q5KU26,Q9Y619,P62266,Q15125 10 |
| Slowly progressive 0.4351127639029433 0.5783449058926744 0.5630312822515169 1.0 0.924582654498649 53 Q5T440,Q9NR77,Q8N2K0,O00584,P50402,O14773,Q99720,Q69YN2,Q16637,O95831,Q8IV08 11 |
| Arm dystonia 0.7194299010279329 0.5769304860235144 0.5639864153276086 1.0 0.925440237902074 3 Q99720 1 |
| Optic nerve hypoplasia 0.4279243499106576 0.5766556117791897 0.5641721236408366 1.0 0.925440237902074 15 P36507,O14936,P37268 3 |
| Abnormality of the forearm 0.4007516764347998 0.57622591949963 0.5644624878380871 1.0 0.9255782409270495 34 Q9UBM7,P10644,Q32P28,Q96L58,P48651,Q13363 6 |
| Esophageal varix 0.5238146557504243 0.5755345830811531 0.5649298087339374 1.0 0.925827346669036 5 P04062 1 |
| Male sexual dysfunction 0.5005352121659362 0.5753908608593741 0.565026983628897 1.0 0.925827346669036 7 P07686 1 |
| Abnormality of long bone morphology 0.3970649411239738 0.5745927527876845 0.5655667545649641 1.0 0.9263636446475428 132 O75844,P48651,Q9Y487,Q15125,Q13363,P37268,Q96L58,Q9Y619,Q7LGA3,O95831,O14936,P08236,Q14739,Q32P28,P10644,P16278,Q13501,O95453,Q9UBM7,P36507,O75874,P42858,Q8N0X7 23 |
| Eeg with focal epileptiform discharges 0.395037862609021 0.5727469883081379 0.5668160172629304 1.0 0.9266931028388372 28 P11166,Q96N66,O75503,Q05086,O14936 5 |
| Thrombocytosis 0.3953794242808498 0.5726488823165082 0.5668824550266804 1.0 0.9266931028388372 27 P18077,P08708,Q07020,P35610,P61313,P62857,P60866,P46777,Q15477,P62899 10 |
| Hypoplasia of the musculature 0.5229395021050531 0.5726019886873807 0.5669142128954321 1.0 0.9266931028388372 5 Q9Y487 1 |
| Retinal telangiectasia 0.7172215316509998 0.570616591728484 0.568259569107789 1.0 0.9268276438398236 3 O75306 1 |
| Anteverted ears 0.7046120058565241 0.570044411300429 0.5686475765704015 1.0 0.9270215487279194 2 P27635 1 |
| Abnormality of the outer ear 0.3686850186055477 0.5691174624868302 0.5692764284529419 1.0 0.927709735256646 280 O75844,O43924,Q06136,P62266,Q15392,P48651,O60701,Q15125,P15586,Q9Y487,P42892,Q13363,Q15022,P37268,P11166,P62140,Q96L58,P11233,Q14839,Q9Y619,Q06787,Q7LGA3,O95831,P23786,O14936,Q8IWS0,Q14739,Q10713,O43505,P16278,Q9UBM7,P36507,Q8NCH0,Q16625,Q4J6C6,Q92643,Q10471,P04062,P42858,Q8N0X7 40 |
| Death in childhood 0.3943202372164659 0.5647763374192488 0.5722259036862716 1.0 0.9286687681383738 22 P07686,P50542,P43897,O95352,Q96IX5 5 |
| Jaundice 0.423872675824638 0.5628748934401702 0.5735200774468492 1.0 0.9291347306814502 47 Q15904,Q16625,P10644,Q14739,O15118,O14936 6 |
| Abnormal muscle fiber morphology 0.4420818140168085 0.561192813928898 0.5746661012315961 1.0 0.9300762576009388 61 P05067,P35637,Q9HA77,Q13642,P50402,Q99720,Q70HW3,P23786,Q9H2D1,Q13501,Q9BUK6,P51114,O95831,P31483 14 |
| Abnormal oral physiology 0.4264415064695722 0.5586688087195869 0.5763877703139084 1.0 0.9301408976586192 49 Q9NR77,Q14739,Q15165,P10644,P01889,Q92804,P15586,Q13501,Q05086,Q8N0X7 10 |
| Abnormal nasal bridge morphology 0.342712130927184 0.5579926959730317 0.5768493717686547 1.0 0.9301408976586192 214 O43924,P62266,Q15392,Q9Y487,Q15125,P15586,P42892,Q13363,P37268,P11166,Q96L58,Q5KU26,P11233,Q7LGA3,O95831,O14936,Q14739,P10644,Q10713,P16278,Q9UBM7,P36507,P13073,Q4J6C6,Q10471,P04062,P42858 27 |
| Autoamputation 0.5181326275244786 0.5565794462192629 0.5778148000606573 1.0 0.9301408976586192 5 O15269 1 |
| Sandal gap 0.4077074059490492 0.5554242791317157 0.5786044895765325 1.0 0.93045451060379 19 Q96L58,Q10471,Q14739 3 |
| Abdominal pain 0.4493902247300043 0.5547382284284471 0.5790737240425667 1.0 0.93045451060379 72 P07686,Q01844,P10644,P06280,Q70HW3,Q14108,P52565,P01889,Q27J81,P04062,P35637,P42892,P23786,O14936 14 |
| Failure to thrive in infancy 0.392190239627633 0.554503460072368 0.5792343383386918 1.0 0.93045451060379 28 P42892,P40939,P37268 3 |
| Bruising susceptibility 0.3924284494925312 0.55173710630521 0.5811284832939054 1.0 0.9311216003015366 24 Q96L58,Q14108,P04062,P10644 4 |
| Abnormal bleeding 0.4508892373829388 0.5509699473159319 0.5816542761584846 1.0 0.9311216003015366 88 O75844,P05067,P11117,P36507,Q8NCH0,Q16625,Q14739,P10644,Q96L58,P05166,Q14108,P04062,P01889,P23786 14 |
| Pancytopenia 0.3899298125401282 0.5500945326264076 0.5822545364956886 1.0 0.9311216003015366 31 P05166,Q96EY8,P10644,Q14108,P04062,Q96J02 6 |
| Ovotestis 0.6980234260615035 0.5495828248526757 0.5826055417037339 1.0 0.9311216003015366 2 Q9NX14 1 |
| Abnormality of the testis size 0.3917678655352584 0.5494443674730484 0.5827005333164554 1.0 0.9311216003015366 22 Q8IWS0,P51809,Q9UPP1,O43505,Q06787 5 |
| Neoplasm of the male external genitalia 0.4569758054218428 0.5488102638497183 0.5831356658311027 1.0 0.9311216003015366 9 Q9UPY3,P51809,Q01844,P10644 4 |
| Freckling 0.4568036701288963 0.5481181517399687 0.5836107776053647 1.0 0.931121638781684 9 P10644,P62140 2 |
| Pulmonary artery stenosis 0.450438298462483 0.5455548133945609 0.5853719924723413 1.0 0.932654957767908 10 P62140,P27635,Q15477,Q15056,P41227 5 |
| Reduced consciousness confusion 0.439086621333826 0.5430641873542604 0.5870856091446148 1.0 0.933821318709992 105 P05166,P05067,P07602,P11166,Q96EY8,P35610,Q9Y619,Q9NX14,Q9NR50,P23786,P00367,O43772,P40939,P01889,Q9UBM7,P49770,P04062,P42858,Q96IX5 19 |
| Abnormal shoulder morphology 0.3981256616080759 0.5430418843386803 0.5871009646987977 1.0 0.933821318709992 20 Q7LGA3,Q9Y619 2 |
| Ecchymosis 0.4472387999211992 0.5427705541497494 0.5872877895498028 1.0 0.933821318709992 11 P04062,P10644 2 |
| Broad long bones 0.3908359935658868 0.5426314264034389 0.587383596862368 1.0 0.933821318709992 23 Q7LGA3,Q96L58,O14936,P42858 4 |
| Abnormal lumbar spine morphology 0.4496581917240549 0.5423226376482025 0.5875962633988474 1.0 0.9338286225687064 10 P08236 1 |
| Aplastic clavicle 0.7057859101297416 0.5383514463288912 0.5903344400764137 1.0 0.9344887804829112 3 Q9Y619 1 |
| Abnormal eyebrow morphology 0.3982187598797491 0.5382714591361034 0.590389652366158 1.0 0.9344887804829112 130 O75844,O43924,P62266,O60701,Q15125,P15586,Q13363,O14646,P62140,Q5KU26,Q9UPP1,P54802,Q7LGA3,O95831,P04066,P08236,Q8IWS0,Q10713,O95453,P36507,Q92643,P42858 22 |
| Abnormality of the thenar eminence 0.4194680279182097 0.5380315889761683 0.5905552403852588 1.0 0.9344887804829112 16 P08708,Q07020,P61313,P62857,P46777,P18077,P62899 7 |
| Pituitary adenoma 0.4485588530267682 0.537775410000787 0.5907321103642775 1.0 0.9344887804829112 10 O00170,P60866,O75874,P10644 4 |
| Abnormal phalangeal joint morphology of the hand 0.3895143910157823 0.5374293347738075 0.5909710848181966 1.0 0.9344887804829112 28 O75844 1 |
| Hyperpituitarism 0.4192959252561253 0.5371529277937763 0.5911619833634343 1.0 0.9344887804829112 16 P10644,O00170,P51809,Q06787,Q9BUK6 5 |
| Abnormal palate morphology 0.3485140817925458 0.5366636387609782 0.591499976899728 1.0 0.9344887804829112 231 Q5T440,O75844,O43924,P62266,Q15392,P48651,Q15125,Q13363,Q96L58,Q5KU26,Q9UPP1,Q9Y619,Q7LGA3,O95831,P23786,O14936,Q14739,Q10713,O43505,Q9UBM7,P36507,Q8NCH0,Q16625,P04062,P42858 25 |
| Generalized joint laxity 0.4482827298472663 0.5366346832695247 0.5915199817020307 1.0 0.9344887804829112 10 Q8NCH0,Q9Y487 2 |
| Abnormal synaptic transmission at the neuromuscular junction 0.3896462554359424 0.5351920078100842 0.5925170922607652 1.0 0.9344887804829112 26 Q15165,P35637,Q13501,Q92804 4 |
| Optic neuropathy 0.4040029695911094 0.5348130031960627 0.5927791705261103 1.0 0.9344887804829112 19 Q9NX14,P43897,P01130 3 |
| Thoracic hypoplasia 0.3894244777717991 0.5341084216000438 0.593266523499469 1.0 0.9344887804829112 23 Q14739 1 |
| Myoclonic spasms 0.70411620778318 0.533702672534265 0.5935472598514693 1.0 0.9344887804829112 3 Q10713 1 |
| Abnormal renal pelvis morphology 0.4143641958771028 0.5332770660915594 0.5938418007881601 1.0 0.9344887804829112 44 P36507,Q9UBM7,Q8NCH0,O43505,Q15125,P23786 6 |
| Dental crowding 0.388535829841681 0.5320638580254872 0.5946817682181282 1.0 0.9349013115838128 21 O75844 1 |
| Hyperthyroidism 0.4882891735954994 0.5317822337816391 0.5948768290162858 1.0 0.9349013115838128 7 Q06787 1 |
| Oral pharyngeal dysphagia 0.4526283238310876 0.531394388008942 0.5951455096245439 1.0 0.9349013115838128 9 Q13510 1 |
| Dehydration 0.4306436746206455 0.530757277069839 0.5955869891589947 1.0 0.9352674623322492 13 P35610,Q96EY8 2 |
| Myositis 0.4701897166729777 0.5294790307559025 0.5964731870864983 1.0 0.9356751106193416 8 P01889 1 |
| Metaphyseal dysplasia 0.4694937267163737 0.5268764084660471 0.5982794176315045 1.0 0.9356751106193416 8 Q99575,O95831 2 |
| Pulmonary cyst 0.5089139693128852 0.526271455433459 0.5986996128487947 1.0 0.9356751106193416 5 P10644 1 |
| Rapidly progressive 0.4691471803314315 0.5255817850202934 0.5991788152460855 1.0 0.9356751106193416 8 Q13642,P52565,Q14108 3 |
| Upper limb postural tremor 0.5517066326707358 0.5254864834703156 0.5992450471089086 1.0 0.9356751106193416 4 Q9NR77 1 |
| Crumpled long bones 0.6899707174231335 0.5250030410433174 0.5995810769075531 1.0 0.9356751106193416 2 P07237 1 |
| Abnormal stool composition 0.6896046852123051 0.5238973289836945 0.6003499526832574 1.0 0.9359442598182786 2 P36551 1 |
| Increased fecal porphyrin 0.6896046852123051 0.5238973289836945 0.6003499526832574 1.0 0.9359442598182786 2 P36551 1 |
| Increased circulating gonadotropin level 0.4505184597462124 0.522991713591758 0.6009800197335848 1.0 0.9365045744516912 9 Q06787,P51809 2 |
| Cerebellar vermis atrophy 0.4448735834196781 0.5225982517240211 0.6012538574084991 1.0 0.9365045744516912 10 Q10713 1 |
| Abnormal hair morphology 0.3651696195041274 0.5202172818825682 0.6029121414318044 1.0 0.9374636044807528 279 O75844,O43924,Q06136,P62266,O60701,P48651,Q9Y487,Q15125,P15586,Q13363,Q15022,P37268,O14646,P11166,P04080,P62140,Q96L58,Q5KU26,P11233,P51809,Q9UPP1,Q9Y619,P54802,Q9NX14,Q06787,O75306,Q7LGA3,Q05086,P04066,O95831,P08236,P53634,Q8IWS0,P10644,Q10713,P01889,P16278,O95453,Q9UBM7,P36507,Q4J6C6,Q92643,P42858 43 |
| Abnormality of the shoulder girdle musculature 0.3865006113026237 0.5182836851689859 0.6042603542162865 1.0 0.9374636044807528 28 Q13642,P07602,Q9Y487,Q13501 4 |
| Male pseudohermaphroditism 0.6982790186744783 0.5175801465827261 0.6047512366328052 1.0 0.9374636044807528 3 Q9NX14,Q8IY37 2 |
| Abnormality of the pinna 0.3294551829860728 0.5173978012340564 0.6048784942656258 1.0 0.9374636044807528 191 O75844,Q06136,P62266,Q15392,P48651,O60701,Q15125,P42892,Q13363,Q15022,P37268,P11166,P62140,Q14839,Q9Y619,Q06787,Q7LGA3,P23786,O14936,Q8IWS0,O43505,P16278,P36507,Q8NCH0,Q92643,P04062,P42858 27 |
| Abnormal tracheobronchial morphology 0.4184716013323689 0.5152401514567588 0.6063852147521447 1.0 0.9374636044807528 48 Q9UBM7,Q14739,Q96L58,Q13432,Q15125 5 |
| Aphthous ulcer 0.488356258187767 0.5136925849656893 0.6074669369983257 1.0 0.9382077715779634 6 P01889 1 |
| Abnormal peripheral myelination 0.3860821388540646 0.512759247095511 0.6081197400435894 1.0 0.9382077715779634 25 Q9NR77,P07602,O15269 3 |
| Thickened calvaria 0.4828592218881882 0.512757650107095 0.6081208572906185 1.0 0.9382077715779634 7 P48651,P16278 2 |
| Coarctation of aorta 0.3840471949647164 0.51140890507397 0.6090647606466602 1.0 0.9389832325055244 31 Q9UBM7,O60566,P08708,P62140,Q07020,P61313,Q14839,P62857,P46777,P18077,P62899 11 |
| Recurrent fever 0.425979389521007 0.5093506262326715 0.6105064778188771 1.0 0.9389832325055244 13 Q5T440,Q9NR77,Q13510 3 |
| Abnormality of alkaline phosphatase level 0.3991448554628748 0.5079806264172299 0.6114669299214568 1.0 0.9393648376956042 19 P38571,Q13501,Q14739 3 |
| Abnormality of the cervical spine 0.4447320600952786 0.5064792350857232 0.6125202632230571 1.0 0.9393648376956042 90 Q9UBM7,P36507,Q8NCH0,P11166,Q96L58,O95831,P16278,Q15125,P15586,Q7LGA3,P04066,P08236 12 |
| Short nose 0.4452881172071598 0.5061781268963618 0.6127316086546069 1.0 0.9393648376956042 79 O75844,P36507,Q8NCH0,P10644,Q96L58,Q5KU26,P04062,Q15392,Q9Y487,P42892,O14936 11 |
| Abnormal insulin level 0.3843481613156091 0.5025924377549345 0.6152508471616724 1.0 0.9393648376956042 24 O75844,P00367 2 |
| Wide nasal ridge 0.5442056084287874 0.5025471024009727 0.61528272807904 1.0 0.9393648376956042 4 Q15022 1 |
| Abnormal neural tube morphology 0.3824178311577384 0.5007569534376217 0.6165421842343441 1.0 0.9393648376956042 31 Q10713 1 |
| Peripheral pulmonary artery stenosis 0.4790158196111756 0.499415563898881 0.6174866569349202 1.0 0.9393648376956042 7 Q15056,Q15477,P62140 3 |
| Anonychia 0.4237566886170176 0.4992158767753878 0.6176273108416652 1.0 0.9393648376956042 13 Q14739 1 |
| Congenital malformation of the great arteries 0.4445890833645239 0.4985430612553547 0.6181013260693535 1.0 0.9393648376956042 81 O75844,Q9UBM7,Q15392,P01889,P42892 5 |
| Retinopathy 0.3831749852757824 0.4983096660664646 0.6182657959294533 1.0 0.9393648376956042 22 P51648,P40939,P01889,O75306,O95352,Q13363,Q9NZ08 7 |
| Abnormal renal echogenicity 0.680819912152276 0.4976718416262741 0.6187153581709033 1.0 0.9393648376956042 2 Q9Y2V7 1 |
| Oral ulcer 0.4784567927492693 0.4974837523683969 0.6188479576885801 1.0 0.9393648376956042 7 P01889 1 |
| Abnormal reflex 0.3701138103675478 0.4957224087169414 0.6200902747032826 1.0 0.9393648376956042 300 Q5T440,P07602,O14773,Q99720,Q96N66,O75503,O60701,O15269,P51114,Q8N2K0,P17900,P10253,P11166,P35610,Q5KU26,Q86XL3,Q9Y619,P54802,Q06787,O75306,Q9BUK6,Q05086,O95831,O14936,Q9NR77,Q9HA77,O00400,Q14739,Q10713,Q8TAA9,O43505,P40939,P01889,Q27J81,Q13501,P35637,Q13510,Q9NZ08,O95453,P07686,P13073,Q16625,P04062,P42858,Q96IX5,Q8N0X7,Q5JRX3 47 |
| Proptosis 0.3992075204052594 0.495664317238349 0.6201312664881424 1.0 0.9393648376956042 39 O75844,Q9UBM7,Q96L58,Q5KU26,Q13363 5 |
| Erythroid hypoplasia 0.4099375224137442 0.4955028487931896 0.6202452115980295 1.0 0.9393648376956042 17 P08708,Q07020,P61313,P62857,P46777,P18077,P62899 7 |
| Reticulocytopenia 0.4099375224137442 0.4955028487931896 0.6202452115980295 1.0 0.9393648376956042 17 P08708,Q07020,P61313,P62857,P46777,P18077,P62899 7 |
| Open mouth 0.382839539470784 0.4946226776066751 0.6208664913532043 1.0 0.9393648376956042 23 Q86XL3,P04062,Q10713,P10644 4 |
| Congestive heart failure 0.4255514864065 0.4941221951906451 0.6212198837523515 1.0 0.9393648376956042 55 Q969Y2,P10253,P10644,P06280,Q70HW3,Q9NX14,P40939,O75306,P16278 9 |
| Bulbous nose 0.3900486671144761 0.490894549133719 0.6235010325321233 1.0 0.9418622127243924 35 P42892,P23786 2 |
| Goiter 0.4761522877908286 0.4895442476486683 0.6244564364761804 1.0 0.9421471717591444 7 Q9UPY3,O75874 2 |
| Spinal muscular atrophy 0.4367489445468813 0.4895176594446637 0.624475255269761 1.0 0.9421471717591444 10 Q13510,Q99720,Q16637 3 |
| Testicular atrophy 0.5398761957904801 0.4894866615260728 0.6244971955126364 1.0 0.9421471717591444 4 O76024 1 |
| Multiple lipomas 0.4804167466882038 0.4871287778342681 0.6261670737839702 1.0 0.943032827900154 6 Q8TAA9 1 |
| Cutaneous syndactyly of toes 0.6867860262882008 0.4864456868464819 0.6266512049122765 1.0 0.943097366061468 3 P27635 1 |
| Functional abnormality of the inner ear 0.3361454100563595 0.4860492214160673 0.6269322680123244 1.0 0.943097366061468 210 O75844,O00584,P07602,P06280,O15269,P48651,Q15125,P42892,Q13363,Q8N2K0,Q96L58,Q9H061,Q9NX14,O75306,Q7LGA3,O95831,O14936,Q9NR77,Q15904,P10644,Q07021,P27635,P52565,P01889,Q13501,P35637,Q14126,P09493,Q13510,Q9UBM7,P04062 31 |
| Abnormality of the maxilla 0.3799069024860891 0.4843992245594207 0.6281025686489543 1.0 0.943097366061468 31 Q05086,P10644,Q9Y619,Q14739 4 |
| Keratitis 0.432985655077891 0.482749462366495 0.6292736383899968 1.0 0.943097366061468 11 Q14739 1 |
| Abnormal hemoglobin 0.3801099408107531 0.4826893878528058 0.6293162993967436 1.0 0.943097366061468 21 P08708,Q07020,O75431,P61313,P62857,P46777,Q9UKG1,P18077,P62899 9 |
| Central nervous system cyst 0.4084663601063934 0.4819958943097189 0.6298088628785479 1.0 0.943097366061468 45 Q9UBM7,P23786,Q15125,O43505 4 |
| Abnormal sternal ossification 0.5373328616836301 0.4818776267004092 0.6298928805422217 1.0 0.943097366061468 4 Q9Y619 1 |
| Muscular hypotonia of the trunk 0.4359491120914379 0.4802173038800826 0.6310728838960258 1.0 0.943097366061468 67 P05166,P17900,Q16625,P07602,Q96N66,Q9NX14,O60701,P42858,O14936 9 |
| Abnormality of the abdominal wall 0.4410362848676673 0.479640920824576 0.6314827436865351 1.0 0.943097366061468 91 O75844,Q9UBM7,Q8NCH0,Q14739,Q32P28,Q10713,P48651,P16278,Q9Y487,P04066,O14936,P08236 12 |
| Abnormality of the nasal tip 0.4418764333890879 0.4791267483097859 0.6318484618711726 1.0 0.943097366061468 80 O75844,O43924,Q9UPP1,Q06787,P16278,Q7LGA3,P42892,O95831,P23786,O14936 10 |
| Cavernous hemangioma 0.4940412876915276 0.4786358267995511 0.6321977262800422 1.0 0.943097366061468 5 P50570,P36507,P21912 3 |
| X linked recessive inheritance 0.409315152433298 0.4761028275765507 0.63400112266577 1.0 0.9433764739017944 46 Q15904,P06280,Q9UPP1,Q15125,O95831,O14936 6 |
| Motor axonal neuropathy 0.4074329890653748 0.4755670664667197 0.6343828427441212 1.0 0.9433764739017944 14 O15270,Q13057,O15269,O95831 4 |
| Tibial torsion 0.6727672035139097 0.4741746865786112 0.6353753428526321 1.0 0.9439141141087762 2 Q9Y5S9 1 |
| Abnormality of circulating adrenocorticotropin level 0.4918370124855115 0.4717176807616994 0.6371283152621026 1.0 0.9462051220702568 5 P10644 1 |
| Distal sensory impairment of all modalities 0.4916027515144955 0.4709846991262101 0.637651661519735 1.0 0.9463560373348447 5 O15269 1 |
| Irritability 0.4372007762274578 0.4698316998545416 0.6384752644687044 1.0 0.9467105124324882 71 Q5T440,O43772,P11166,P50897,P07602,Q5KU26,Q13510,Q06787,P52565,P01889,Q27J81,Q13501,P42858,O95831,P37268 15 |
| Neuronal loss in the cerebral cortex 0.4902804695349394 0.4668555771684017 0.6406032096674674 1.0 0.9479380206948576 5 Q13501 1 |
| Abnormality of chromosome stability 0.4531551098931413 0.4668123008974404 0.6406341743150763 1.0 0.9479380206948576 8 P13073 1 |
| Abnormality of blood circulation 0.4264315515688938 0.4667218842245718 0.6406988704571959 1.0 0.9479380206948576 59 O75844,P05067,Q14739,P01889,P23786 5 |
| Fibrous tissue neoplasm 0.4054705146737029 0.4654420780609413 0.6416149070369848 1.0 0.948077749565577 15 Q15392 1 |
| Neoplasm of the tracheobronchial system 0.6787680270197171 0.4652265780376765 0.6417692074822243 1.0 0.948077749565577 3 Q9UPY3 1 |
| Emotional lability 0.4141430943352213 0.4649179648326936 0.6419902049546344 1.0 0.9480921486793022 50 P10644,Q15165,P07602,Q9NR50,P49770,O75306,Q92804,Q13501,Q8N0X7 9 |
| Upper motor neuron dysfunction 0.3743416487282585 0.4632733973829525 0.6431684116814373 1.0 0.9486922122746356 323 Q5T440,O00584,P07602,O14773,Q99720,Q96N66,O75503,Q15392,O60701,Q9Y487,Q15022,P11117,Q8N2K0,P17900,P11166,P50897,P35610,Q5KU26,Q96L58,Q86XL3,Q9Y619,Q9NR50,O75306,Q92804,P04066,O95831,O14936,Q9NR77,Q9HA77,O00400,Q15165,Q10713,O15118,O43505,P61960,P40939,P01889,P16278,Q13501,P35637,Q13510,Q9NZ08,P51648,P07686,Q16625,P49770,P04062,P42858,Q8N0X7 49 |
| Prominent digit pad 0.4150918361240533 0.4601437043898124 0.6454130756896661 1.0 0.9502768906905854 13 P42858,Q7LGA3 2 |
| Pace of progression 0.3507632503343983 0.4597044290645992 0.645728389998895 1.0 0.9502768906905854 146 O00400,O00584,Q10713,O14773,Q99720,P54802,Q14108,P04062,Q13501,P15586,O95831,Q8IV08 12 |
| Atrophy degeneration involving the caudate nucleus 0.6765036363699665 0.4593115895532308 0.6460104263585063 1.0 0.9502768906905854 3 P42858 1 |
| Mortality aging 0.4376217550398943 0.4583542214843378 0.6466979751002548 1.0 0.9506650875368304 93 O75844,P05067,P07686,Q15904,Q14739,P07602,P43897,P04062,P16278 9 |
| Abnormality of female external genitalia 0.3825287501856315 0.4564122683299408 0.6480935452677143 1.0 0.9507600232401496 34 Q9UBM7,P10644,P51809,Q9Y619,Q15392 5 |
| Ketonuria 0.4278285638607015 0.4538464052825416 0.6499393806670821 1.0 0.9510687774482768 10 P35610 1 |
| Headache 0.4220298874725253 0.45274061246312 0.6507355317293877 1.0 0.9519234245115684 57 P05067,P11166,P10644,Q8TAA9,P52565,P04062,P01889,Q27J81,P23786 9 |
| Aplasia hypoplasia of the eyebrow 0.3943820699402454 0.4508452473832288 0.6521010875996951 1.0 0.952368916741761 40 O75844,P36507,Q14696,P62140,O75431,Q92643,P62857,P48449,Q15125 9 |
| Tube feeding 0.4101636465598823 0.4487723237513168 0.6535959056980833 1.0 0.9536210743735364 49 Q9HA77,P07602,Q99720,Q96N66,O60701,P35637,P37268 7 |
| Vascular neoplasm 0.3764462852113782 0.4467644659449484 0.6550451302637748 1.0 0.954203263765624 32 P36507,Q9UBM7,O75874,P10619,Q7LGA3,Q13363 6 |
| Aplasia hypoplasia of the femur 0.4115579987055084 0.4444203701474378 0.6567386887061191 1.0 0.954203263765624 13 P50542,O75431,Q96L58,Q14839,O95831 5 |
| Nemaline bodies 0.5241758241758256 0.4432986187893465 0.6575497547090141 1.0 0.954203263765624 4 Q9Y281,P06753,P07196 3 |
| Tracheoesophageal fistula 0.4008145067293164 0.4429947088429334 0.6577695618631996 1.0 0.954203263765624 15 O95453,P06748,Q9NPE3,Q9H9Y6,Q15056,Q9NX24 6 |
| Pulmonary artery dilatation 0.4462380797213109 0.4420294252582216 0.6584679130294273 1.0 0.9543995403168212 8 Q7LGA3 1 |
| Cellular immunodeficiency 0.4240708405358985 0.43903888705211 0.6606333594713001 1.0 0.9560490216161078 10 O95453,P06748,P21912,Q9NPE3,Q9NX24 5 |
| Abnormal eating behavior 0.3793072286517742 0.4369809558169861 0.6621251593787747 1.0 0.9560490216161078 20 P35610,Q05086,Q4J6C6 3 |
| Abnormal erythrocyte morphology 0.3125295633270191 0.4360219960691285 0.6628207706236391 1.0 0.9560490216161078 168 O95453,P05166,Q15904,Q96EY8,P10644,P07602,P06280,O75874,Q10471,Q14108,P04062,P01889,P02786,P38571,Q13510,O14936 16 |
| Kyphoscoliosis 0.4049539748421713 0.4359252742025432 0.6628909469937843 1.0 0.9560490216161078 47 Q9NR77,O75844,Q8NCH0,Q96L58,Q5KU26,Q9Y487,O95352,Q8N0X7 8 |
| Biconcave vertebral bodies 0.4801428018495153 0.4356735087615634 0.6630736288144528 1.0 0.9560490216161078 5 O00170,Q96AY3 2 |
| Cone shaped epiphysis 0.4799965104097561 0.4352298604053863 0.6633955902631892 1.0 0.9560490216161078 5 O95831 1 |
| Hyperkalemia 0.4792261249927072 0.4328966091441701 0.6650898835320678 1.0 0.9560490216161078 5 P11166 1 |
| Polyphagia 0.4436443969111456 0.4328437629342281 0.6651282777296879 1.0 0.9560490216161078 8 Q05086,Q4J6C6 2 |
| Abnormal circulating bilirubin concentration 0.3727177451353567 0.4320263514355048 0.665722261041187 1.0 0.9560490216161078 28 P23786,O14936,Q14739 3 |
| Abnormality of the pubic bone 0.4626083105235375 0.4293375132225688 0.6676776207050283 1.0 0.9560490216161078 6 Q8IZA0 1 |
| Abnormal lip morphology 0.3408089513614477 0.4271709716030026 0.6692548028655361 1.0 0.9560490216161078 230 O75844,P06280,P62266,O60701,P48651,Q9Y487,P15586,Q13363,Q15022,P11166,P62140,Q96L58,Q5KU26,Q86XL3,Q9UPP1,Q9Y619,Q06787,Q7LGA3,P04066,O14936,Q14739,P16278,Q9UBM7,P36507,Q8NCH0,Q16625,Q4J6C6,Q92643,Q10471,P04062,P42858 31 |
| Abnormality of hindbrain morphology 0.3428574604049613 0.4271707028828465 0.6692549985770508 1.0 0.9560490216161078 235 Q5T440,O43924,O14773,Q99720,O75503,Q9Y487,Q15125,Q13363,Q8IV08,Q8N2K0,P62140,Q14839,Q14108,Q06787,Q9BUK6,P23786,O14936,Q9HA77,O00400,Q10713,P27635,Q8TAA9,O43505,P61960,Q13501,P35637,O95453,Q9UBM7,P36507,P13073,Q16625,Q92643,P42858,Q8N0X7,Q5JRX3 35 |
| Enlarged ovaries 0.518387999776925 0.426763330732479 0.6695517175188967 1.0 0.9560490216161078 4 P10644 1 |
| Conical tooth 0.4615652564914055 0.4260351060565536 0.6700822653434302 1.0 0.9560490216161078 6 Q9Y487,P61586 2 |
| Melanocytic nevus 0.4254122852658014 0.4257855811583023 0.6702640944984695 1.0 0.9560490216161078 9 Q15022,P10644 2 |
| Decreased activity of mitochondrial complex iii 0.4415652831516717 0.4255241689474626 0.6704546066770405 1.0 0.9560490216161078 8 P43897 1 |
| Polymicrogyria 0.4272275334037214 0.4243656208337131 0.6712991891528413 1.0 0.9560490216161078 66 Q5T440,Q16625,Q10713,O43505,Q96N66,Q15392,Q9Y487,P23786,P37268 9 |
| Irregular epiphyses 0.5171274558481549 0.4231988883105232 0.6721501578181246 1.0 0.9560490216161078 4 P50542 1 |
| Blue sclerae 0.3831653565108884 0.4215315619286005 0.6733669691017194 1.0 0.9560490216161078 19 Q96L58,Q8NCH0,P62266 3 |
| Mitochondrial inheritance 0.6537335285505144 0.4208360490482344 0.6738748059659205 1.0 0.9562699559811292 2 Q9Y276 1 |
| Cleft soft palate 0.410503360373518 0.4205047916560204 0.6741167297017967 1.0 0.9562699559811292 52 Q9Y619,O43505,P62266,Q15392,P48651 5 |
| Chronic hemolytic anemia 0.6519033674963459 0.4158782523003783 0.6774990940835492 1.0 0.9570589720926646 2 Q8NBF2 1 |
| Excessive salivation 0.3696248964594915 0.4149879534479376 0.6781507218471485 1.0 0.9570589720926646 24 Q05086,P01889,Q8N0X7,P15586 4 |
| Abnormal morphology of the great vessels 0.3778105838414245 0.4148119718305124 0.6782795548739315 1.0 0.9570589720926646 134 O75844,Q9UBM7,P01130,Q96L58,P43897,Q06787,Q15392,P01889,P04062,P42892 10 |
| Neonatal death 0.394877453696237 0.414724945525271 0.6783432687671047 1.0 0.9570589720926646 15 Q14739 1 |
| Distal upper limb muscle weakness 0.4536409352669276 0.414185856142121 0.678737999319498 1.0 0.9571072475581708 7 Q9Y5P6,P31483,Q13501 3 |
| Multifocal epileptiform discharges 0.3681212330156152 0.4139220208092556 0.6789312162369434 1.0 0.9571072475581708 21 Q96N66,O75503 2 |
| Abnormal elasticity of skin 0.4119015973632243 0.4108215291597492 0.6812034054324301 1.0 0.9575823108381852 54 O95453,O75844,P36507,Q8NCH0,Q15904,P10644,Q96L58,P04062,P48651,Q9Y487,Q15022 11 |
| Sensory neuropathy 0.3688648253746535 0.4083472725837683 0.6830187380692614 1.0 0.958548067520371 28 Q5T440,O95831,Q8IV08,P40939 4 |
| Abnormal circulating free fatty acid concentration 0.5111884421772636 0.4065869678543978 0.684311370455184 1.0 0.959385564362236 4 P40939 1 |
| Decreased facial expression 0.3666077019436129 0.4053797025727459 0.6851984284340575 1.0 0.9597384361439468 21 Q05086,Q06787,P04062 3 |
| Progressive microcephaly 0.3830942621140556 0.4041883946372757 0.6860741871572706 1.0 0.959819498741219 38 Q5KU26,Q9Y487,O14936,P50897 4 |
| Abnormality of the lower urinary tract 0.3179009928798181 0.4034551940907465 0.686613390020202 1.0 0.9602745074511272 183 O75844,P07602,Q99720,P62857,P48651,P48449,Q13363,P37268,P50542,P11166,O00170,Q86XL3,P51809,Q14839,Q9Y619,Q9NX14,Q06787,Q9NR77,P10644,P27635,Q8TAA9,P01889,Q13501,P35637,O95453,Q9UBM7,Q8NCH0,P07686,Q10471,Q9NPE3,O76024,P04062,Q8N0X7 33 |
| Abnormality of the curvature of the vertebral column 0.3496785616481713 0.4016896357891911 0.6879124530033889 1.0 0.9610216054969132 257 O75844,Q14696,Q13642,P50402,Q99720,P48651,Q9Y487,Q15125,P48449,Q13363,Q15022,P50542,P62140,Q96L58,Q5KU26,O00170,P21912,Q9UPP1,Q14108,Q06787,Q7LGA3,Q9BUK6,Q05086,P04066,O95831,O14936,P08236,Q8IWS0,Q9NR77,Q14739,Q32P28,P10644,Q10713,P27635,Q8TAA9,P01889,P16278,P35637,Q13510,Q96J02,O95453,Q9UBM7,P51648,P36507,Q8NCH0,O75874,Q9NPE3,P04062,P42858,O95352,Q8N0X7 51 |
| Emg abnormality 0.4250711446160796 0.3980879037046246 0.6905653905747513 1.0 0.961940540995526 68 Q5T440,Q9NR77,Q14126,P13473,Q13642,P07602,P09493,P50402,O14773,O15269,Q13501,Q16637,Q9BUK6,P51114,Q13510,O15270 16 |
| Variable expressivity 0.4257290902180019 0.3975001436572105 0.6909986806288262 1.0 0.961940540995526 69 Q5T440,Q9NR77,O95453,P17900,Q969Y2,P11166,P07602,Q9H061,Q15125,Q13510 10 |
| Partial duplication of the phalanx of hand 0.3902156970956003 0.3959222670686216 0.6921623737600635 1.0 0.961940540995526 17 P08708,Q07020,P61313,P62857,P46777,P18077,P62899 7 |
| Generalized hypotonia 0.3653478264226849 0.3955025132822499 0.6924720671705762 1.0 0.961940540995526 306 O43924,P07602,P62266,Q96N66,O60701,P48651,Q9Y487,Q15125,Q13363,P06865,Q15022,O14646,P11117,P17900,P10253,Q96EY8,P50897,P62140,Q96L58,Q5KU26,Q14839,Q9Y619,Q9NR50,Q9BUK6,Q05086,O95831,P23786,Q8IWS0,Q9NR77,O43772,Q969Y2,O00400,Q10713,P27635,O15118,Q70HW3,P40939,Q9UBM7,Q8NCH0,P13073,Q4J6C6,Q92643,P43897,Q10471,P49770,Q8N0X7 46 |
| Prenatal movement abnormality 0.3985625155378595 0.3940077364601544 0.6935753274397971 1.0 0.9625126993042082 47 O75844,Q9UBM7,Q4J6C6,P43897,P04062,P51114 6 |
| Generalized onset seizure 0.4305698206410984 0.3914224127542148 0.6954850282229552 1.0 0.9633686441273596 83 P11166,P04080,Q9HA77,P07602,Q9Y619,Q96N66,O75503,Q14108,P04062,P16278,Q05086,Q13510,O14936,P00367 14 |
| Diastasis recti 0.6486846181824806 0.3896130005849594 0.6968227373126241 1.0 0.9634465649928112 3 Q8NCH0 1 |
| Underdeveloped nasal alae 0.3888431697199253 0.3891659203988556 0.6971534118199811 1.0 0.9634465649928112 17 P63241,P28482,O75431,P62140,Q5KU26,P41227 6 |
| Head titubation 0.4495774482587227 0.3887881872087489 0.6974328399629599 1.0 0.9634465649928112 6 Q99720 1 |
| Aplasia hypoplasia of the spleen 0.6481142438667156 0.388244198957274 0.6978353273946722 1.0 0.9634465649928112 3 P08865,Q8TD19 2 |
| Arachnodactyly 0.3649915534897493 0.3868212929804659 0.6988885124977131 1.0 0.9634465649928112 30 P53634,Q96L58,Q13363,Q9UPP1 4 |
| Neoplasm of the adrenal cortex 0.4488982658651095 0.3867181861378013 0.6989648511191751 1.0 0.9634465649928112 6 P10644 1 |
| Abnormal jaw morphology 0.3342874587888806 0.3866188468823684 0.6990384031597481 1.0 0.9634465649928112 221 O75844,O43924,Q15392,P48651,Q15125,Q13363,P37268,Q96L58,Q86XL3,Q9Y619,Q06787,Q7LGA3,Q05086,O14936,Q14739,P10644,P16278,O95453,Q9UBM7,Q8NCH0,Q16625,Q4J6C6,P04062,P42858 24 |
| Trichorrhexis nodosa 0.6472862556638384 0.3862616595815357 0.6993028924882523 1.0 0.9634465649928112 3 Q15477 1 |
| Thick vermilion border 0.4199269141035818 0.3862108952889097 0.6993404852912573 1.0 0.9634465649928112 64 P11166,P06280,Q10471,Q9Y619,P62266,O60701,P48651,P15586,P04066 9 |
| Abnormality of hepatobiliary system physiology 0.4239849592141425 0.3852823506979665 0.7000282362491186 1.0 0.9634465649928112 69 O43772,Q16625,Q10713,O15118,Q9Y619,P40939,P38571,P01889,P04062,Q13510,P23786 11 |
| Wide mouth 0.4020333287670635 0.3846431856621061 0.7005017936630065 1.0 0.9634465649928112 50 Q9UBM7,P48651,P16278,P15586,Q7LGA3 5 |
| 11 pairs of ribs 0.4444106893769488 0.3845531863074631 0.7005684835461499 1.0 0.9634465649928112 7 Q14739 1 |
| Overriding aorta 0.4439408824252338 0.3830663183853761 0.701670592359567 1.0 0.9640754168064531 7 Q9NX14,Q15056,Q8TD19 3 |
| Synostosis involving bones of the hand 0.4061121783458233 0.3823648909716379 0.7021907284210682 1.0 0.9640754168064531 12 P48651 1 |
| Neoplasm of fatty tissue 0.4089730766524165 0.3809834557146447 0.7032155248553082 1.0 0.9640754168064531 10 Q9BUK6,P27635,Q8TAA9 3 |
| Pure red cell aplasia 0.3814305919637765 0.3806192628112481 0.7034857856736727 1.0 0.9640754168064531 18 P08708,Q07020,P61313,P62857,P46777,P18077,P62899 7 |
| Hypoplasia of the corpus callosum 0.3040434607756509 0.3805884033645914 0.7035086876205736 1.0 0.9640754168064531 159 Q9UBM7,O43924,P07602,Q5KU26,Q96N66,P04062,Q15125,Q7LGA3,Q05086,O95831,P37268 11 |
| Weakness of muscles of respiration 0.3629793865369855 0.3762121086643112 0.7067592141564796 1.0 0.9658977536952325 31 P10253,Q13642,P50402,Q13510,O95831 5 |
| Abnormality of pelvic girdle bone morphology 0.4026011311156635 0.3759135376104657 0.706981175882464 1.0 0.9658977536952325 119 O75844,Q9UBM7,Q14739,Q96L58,Q8TAA9,Q9Y619,O95831,P01889,P16278,Q15125,Q7LGA3,Q8IZA0,Q13363,P08236 14 |
| Abnormal lymphocyte morphology 0.3633390278538999 0.3753414723070734 0.7074065264850211 1.0 0.9658977536952325 29 P04066,P16278 2 |
| Turricephaly 0.4269799318223505 0.375331658286861 0.7074138243502861 1.0 0.9658977536952325 8 Q13642,P50542,P07237 3 |
| Abnormal incisor morphology 0.406363348936943 0.3711983630879357 0.7104897922271203 1.0 0.9671767821817142 10 Q7LGA3 1 |
| Incisor macrodontia 0.406363348936943 0.3711983630879357 0.7104897922271203 1.0 0.9671767821817142 10 Q7LGA3 1 |
| Abnormal number of granulocyte precursors 0.6339677891654515 0.3689742608542141 0.712146910103016 1.0 0.967208854999984 2 Q07020 1 |
| Abnormal nasolacrimal system morphology 0.3940609004530584 0.3686004791323018 0.712425538386428 1.0 0.967208854999984 13 Q9NX14,P48651,P62140 3 |
| Tapered finger 0.3613804976947196 0.3662071153345964 0.7142105331630137 1.0 0.968977289248974 31 Q8IWS0,Q8NCH0,Q06136,Q14839,P42892,P23786 6 |
| Thick eyebrow 0.3726485910711866 0.3649996819968134 0.7151116436249609 1.0 0.969253209430216 36 Q8IWS0,O95831,P62266,P15586,P04066,P08236 6 |
| Enchondroma 0.4238939591154414 0.3649857717433396 0.7151220271978782 1.0 0.969253209430216 8 O75874,O15160,P48735,Q9H9Y6 4 |
| Spondyloepimetaphyseal dysplasia 0.4416345208462037 0.3648624950728103 0.7152140517137571 1.0 0.969253209430216 6 Q96L58 1 |
| Sleep disturbance 0.4057294702783107 0.3639710811796166 0.7158796043098197 1.0 0.969253209430216 116 P42858,Q9UBM7,P50897,P35610,Q10471,P54802,O75503,Q96N66,P04062,Q06787,P15586,Q7LGA3,P51114,Q05086,O95831,O14936 16 |
| Distal sensory loss of all modalities 0.4940364580488678 0.3603758332761133 0.7185660964876361 1.0 0.9701626690637 4 O15269 1 |
| Highly arched eyebrow 0.387990259912123 0.3600894692338477 0.7187802276508157 1.0 0.9701626690637 44 P42858,O43924,Q5KU26,Q10713,P62266,Q7LGA3,Q13363 7 |
| Epiphora 0.6356661569147484 0.3590095380082724 0.7195879539967118 1.0 0.9703101398031574 3 Q9NPE3 1 |
| Abnormality of circulating enzyme level 0.4260492958299533 0.3588154318879676 0.719733167425292 1.0 0.9703101398031574 82 O43772,P10253,P13473,P43897,O43505,P40939,Q14126,O95831,P23786,Q5JRX3 10 |
| Aplasia hypoplasia of the nails 0.4066641074723007 0.3580875938680647 0.7202777629746446 1.0 0.9703194149564928 56 O95453,O75844,Q14739,Q96L58,P48651,Q9Y487,Q15022,P23786,O14936 9 |
| Increased hepatic glycogen content 0.4926739926739946 0.3568224895086502 0.7212246989008118 1.0 0.9705631354568088 4 P06737,P36871,P31040 3 |
| Fasting hyperinsulinemia 0.4924819416945633 0.3563230505497945 0.7215986488468173 1.0 0.9705631354568088 4 P00367 1 |
| Abnormal cartilage morphology 0.4010363438246515 0.3551708906030578 0.7224615708599049 1.0 0.9710714375619208 11 P08754,P50542,O75874,P48735,Q9H9Y6,Q7LGA3 6 |
| Postnatal growth retardation 0.4002740582991454 0.3531341459187145 0.7239878750991884 1.0 0.9711985578742348 52 P17900,P11166,P10644,Q96L58,P27635,Q9Y487,Q15125,Q13363,P08236,O14936,O14646 11 |
| Muscle fiber inclusion bodies 0.4055045871559664 0.3529844458392406 0.7241001013618367 1.0 0.9711985578742348 9 Q9Y5P6,P09651,Q06210,P07196,Q9Y281,O43676,P06753,Q14315 8 |
| Abnormal myelination 0.3132601388149011 0.3497978083999657 0.7264904439092641 1.0 0.9711985578742348 181 Q5T440,O00584,P07602,Q99720,O60701,O15269,P10253,P11166,Q5KU26,Q9NX14,Q9NR50,O75306,Q7LGA3,Q05086,O95831,O14936,Q9NR77,Q969Y2,O00400,Q27J81,P51648,P07686,P49770 23 |
| Abnormality of the thoracic cavity 0.4005719320315371 0.3497664615228856 0.7265139709286974 1.0 0.9711985578742348 10 P01889 1 |
| Hypoplastic toenails 0.3693718565633576 0.3495616092419692 0.72666772668041 1.0 0.9711985578742348 19 Q15022,P23786 2 |
| Cholestasis 0.4151759751189296 0.3473703349945887 0.7283131166627581 1.0 0.9728182343995412 65 Q9UBM7,Q15904,Q16625,P10644,Q14739,O15118,P40939,P38571,O14936 9 |
| Neoplasm of the liver 0.3651658056013679 0.3461033655225163 0.7292650342397233 1.0 0.9730709363925056 34 P11717,Q10713 2 |
| Frontal cortical atrophy 0.3988564999379901 0.3434953891210027 0.7312258090134907 1.0 0.9730709363925056 10 Q7LGA3 1 |
| Portal fibrosis 0.4870677900888452 0.3423907967857901 0.732056813537143 1.0 0.9730709363925056 4 P28288 1 |
| Hyperpigmentation of the skin 0.4198051059963475 0.3419707461680655 0.7323729076589598 1.0 0.9730709363925056 72 P42858,O75844,P36507,P51648,O95453,P62140,Q14739,Q06136,P10644,P04062,Q7LGA3 11 |
| Muscle fibrillation 0.3781883745064837 0.341460096055743 0.7327572403526204 1.0 0.9730709363925056 14 P51114,O95831 2 |
| Abnormal myeloid leukocyte morphology 0.4236066570581249 0.3390106579448828 0.734601701227716 1.0 0.973971177285078 84 O95453,Q96EY8,Q14739,P10644,O15118,P01889,P16278,P02786,P38571,Q14126,Q13510 11 |
| Hyporeflexia 0.4207455168480747 0.3381156650861365 0.7352760259979649 1.0 0.9742324638584332 97 Q5T440,P07602,Q99720,O15269,Q8N2K0,P35610,P54802,Q06787,Q9BUK6,O95831,Q9NR77,Q10713,O43505,P40939,Q27J81,Q13501,P35637,O95453,P04062 19 |
| Pericarditis 0.4454900552638408 0.336139033719086 0.7367660245441383 1.0 0.9743779890030289 5 P01889 1 |
| Aplasia hypoplasia involving the metacarpal bones 0.3724067690818782 0.3356996909426687 0.7370973389037219 1.0 0.974385509100138 18 Q96L58,P10644,Q14739 3 |
| Abnormality of the metaphysis 0.3721690280234042 0.3350958242444123 0.737552802722333 1.0 0.974385509100138 38 O95453,P50542,Q14739,Q96L58,O75874,O95831,Q9NPE3,P48651,P16278,Q15022 10 |
| Dysplasia of the femoral head 0.6244330866928682 0.3337097555611122 0.738598587323176 1.0 0.9745038098061224 3 Q96L58 1 |
| Receptive language delay 0.3961243266931269 0.3335823578236324 0.7386947328343201 1.0 0.9745038098061224 10 Q7LGA3 1 |
| Congenital onset 0.4208612589878048 0.331790092115647 0.740047766247206 1.0 0.9746477581190072 95 Q5T440,O43924,Q4J6C6,P62140,P07602,Q5KU26,P11233,P27635,O43505,Q96N66,Q9NX14,Q15125,Q7LGA3 13 |
| Renal salt wasting 0.6178623718887302 0.3295855552719209 0.7417131385226066 1.0 0.9746477581190072 2 Q9NP81 1 |
| Decreased circulating aldosterone level 0.6178623718887299 0.3295855552719207 0.7417131385226068 1.0 0.9746477581190072 2 Q9NRG9 1 |
| Abnormal thalamic size 0.6207541315268582 0.3256541966692509 0.7446860023726662 1.0 0.9746477581190072 3 P11166 1 |
| Premature birth 0.372393462072639 0.3234814658042679 0.7463306418086137 1.0 0.9746477581190072 39 O75844,P36507,Q9UBM7,Q9NX14,P04062 5 |
| Neonatal hyperbilirubinemia 0.6195759619619966 0.3230989027367452 0.7466203412256174 1.0 0.9746477581190072 3 P36551 1 |
| Abnormal mean corpuscular volume 0.3522833330678231 0.3223372238776349 0.7471972361675887 1.0 0.9746477581190072 22 P08708,Q07020,P61313,P62857,Q8NBF2,P46777,P18077,P62899 8 |
| Congenital nystagmus 0.3919717371947432 0.3210881865129107 0.7481435625116348 1.0 0.9746477581190072 11 P42858,Q7LGA3 2 |
| Abnormal middle phalanx morphology of the hand 0.4263842263932835 0.3207449746414551 0.7484036616538674 1.0 0.9746477581190072 6 P48651 1 |
| Orchitis 0.6182932563190001 0.3203304660569875 0.7487178303563318 1.0 0.9746477581190072 3 P01889 1 |
| Pulmonary embolism 0.6182932563190001 0.3203304660569875 0.7487178303563318 1.0 0.9746477581190072 3 P01889 1 |
| Neuroinflammation 0.6182932563190001 0.3203304660569875 0.7487178303563318 1.0 0.9746477581190072 3 P01889 1 |
| Pleuritis 0.6182932563190001 0.3203304660569875 0.7487178303563318 1.0 0.9746477581190072 3 P01889 1 |
| Shoulder girdle muscle atrophy 0.612371888726212 0.3167759447523838 0.7514136182137856 1.0 0.9746477581190072 2 P06753 1 |
| Expressive aphasia 0.6123718887262116 0.3167759447523829 0.7514136182137863 1.0 0.9746477581190072 2 Q9UQN3 1 |
| Alexia 0.6123718887262116 0.3167759447523829 0.7514136182137863 1.0 0.9746477581190072 2 Q9UQN3 1 |
| Grammar specific speech disorder 0.6123718887262116 0.3167759447523829 0.7514136182137863 1.0 0.9746477581190072 2 Q9UQN3 1 |
| Senile plaques 0.6123718887262116 0.3167759447523829 0.7514136182137863 1.0 0.9746477581190072 2 Q9UQN3 1 |
| Hypoplasia of the brainstem 0.3535038414275345 0.316035249443864 0.7519757530408893 1.0 0.9746477581190072 29 Q10713,O43505 2 |
| Abnormality of pain sensation 0.3521436268058843 0.315054254422142 0.7527204607099627 1.0 0.9746477581190072 24 Q9NR77,Q8NCH0,Q06787,O15269,O95831 5 |
| Narrow palate 0.3530236705278616 0.314613929396892 0.753054801745098 1.0 0.9746477581190072 31 P23786,Q9Y619 2 |
| Abnormality of the anterior fontanelle 0.3532557820492552 0.3145614126318911 0.7530946810851993 1.0 0.9746477581190072 29 Q15125 1 |
| Tetraplegia tetraparesis 0.3826076726551209 0.3144101164218318 0.7532095736611639 1.0 0.9746477581190072 45 P17900,Q9HA77,P07602,P21912,Q13501,P35637,O95831 7 |
| Generalized tonic seizure 0.3718139163379879 0.3137283038473273 0.7537274019497824 1.0 0.9746477581190072 14 Q9H936,P27635,Q14746,Q05639,P67870,Q01105,O14936 7 |
| Elliptocytosis 0.614793116074698 0.3128486599951987 0.754395644290927 1.0 0.9747250896454288 3 Q8NBF2,O60488 2 |
| Abnormal pons morphology 0.3614546883579848 0.3095689114969452 0.7568888006716399 1.0 0.9747250896454288 19 Q10713 1 |
| Acute kidney injury 0.4732600732600749 0.30818903975302 0.7579384918661669 1.0 0.9753043002511088 4 P00492,P07741,P04075 3 |
| Widely spaced teeth 0.3517144801609801 0.3081206773980586 0.7579905078600417 1.0 0.9753043002511088 26 Q05086,P16278,P08236 3 |
| Axonal degeneration 0.4347333958679517 0.3077257979034176 0.7582909877779533 1.0 0.9754112792053466 5 P50570,Q8TB36 2 |
| Myopathic facies 0.4342603208429298 0.3065054945065275 0.7592197970135128 1.0 0.9763262031509014 5 Q9BUK6 1 |
| Macule 0.3896798902428377 0.3050095335166165 0.7603588913865611 1.0 0.9766716383923544 50 P42858,O75844,P36507,O95453,P10644,Q06136,P01889,Q7LGA3 8 |
| Paraplegia 0.3808352914058703 0.303310177841483 0.7616534905149326 1.0 0.9778132831470412 45 Q5T440,P11166,O00400,Q96L58,Q9Y619,P04062,O95831,Q8N0X7 8 |
| Cerebellar atrophy 0.4016589164683758 0.3032598883262675 0.7616918121396916 1.0 0.9778132831470412 114 P13073,O00400,Q92643,Q10713,O14773,O75503,Q14108,Q06787,Q13501,Q8N0X7,P42858,Q13363,Q8IV08,O14936,Q5JRX3 15 |
| Poor suck 0.3499085903817571 0.3026566269884144 0.7621515549750513 1.0 0.9778132831470412 24 Q9UBM7,Q05086,P40939,O75306 4 |
| Abnormality of the hallux 0.3730123561762959 0.3021274307585451 0.7625549222403396 1.0 0.9778132831470412 41 P10644,Q96L58,P04062,Q15125,Q7LGA3,Q13363 6 |
| Nephrogenic diabetes insipidus 0.605417276720356 0.3010150104597912 0.7634030483761904 1.0 0.9786212171129228 2 Q9H267 1 |
| Wide anterior fontanel 0.3531350747501263 0.297435492431134 0.7661340500304203 1.0 0.9808692816820602 20 Q32P28,Q15125 2 |
| Abnormality of the neck 0.3530418802833354 0.296947810501016 0.7665063539877659 1.0 0.9809183110057296 140 O75844,Q9UBM7,P36507,P11166,Q14739,Q96L58,Q99720,Q9UPP1,O95831,P16278,Q15125,P15586,Q7LGA3,Q13501,Q9Y487,Q13363,P08236 17 |
| Erythroid hyperplasia 0.6067374588062981 0.2960372112735208 0.767201663846345 1.0 0.981164483146471 3 P06132,O75533 2 |
| Megaloblastic anemia 0.4023752629999376 0.2957851246104472 0.767394183811754 1.0 0.981164483146471 8 O76024,P41440 2 |
| Hypolipoproteinemia 0.4147013754544167 0.295001252443026 0.7679929229521112 1.0 0.981164483146471 7 P38571,P37268 2 |
| Calvarial skull defect 0.4143920609288573 0.2941198896885568 0.7686662929462995 1.0 0.981164483146471 7 Q14739 1 |
| Incomitant strabismus 0.3846204577155678 0.2928985284529012 0.7695997136790118 1.0 0.9820766320703456 10 Q7LGA3 1 |
| Decreased number of large peripheral myelinated nerve fibers 0.4252246778570996 0.2836871950720889 0.7766501086103259 1.0 0.9877316278231272 5 O15269 1 |
| Abnormal nipple morphology 0.3657700791061182 0.2827158283635443 0.7773946817749311 1.0 0.9877316278231272 39 Q5T440,Q9UBM7,Q7LGA3,Q13363,P23786 5 |
| Peptic ulcer 0.3849451003100285 0.2826267297543793 0.7774629879959105 1.0 0.9877316278231272 9 O76024,P04062 2 |
| High myopia 0.3979832570352323 0.2823383377219762 0.7776840915652676 1.0 0.9877316278231272 8 Q9Y487 1 |
| Onion bulb formation 0.4099494118097301 0.2815851952309814 0.778261593531828 1.0 0.9877316278231272 7 Q9NR77,Q27J81,Q8TB36 3 |
| Abnormal blood sodium concentration 0.3845871559633026 0.2814501281537882 0.778365174548147 1.0 0.9877316278231272 9 P50336,Q9NP81,P35658,Q9UNF1,P08397,Q13423,O95551,P36551 8 |
| Hip subluxation 0.4092374279745321 0.2795981868296801 0.7797857983432863 1.0 0.988287394391328 7 Q9UBM7 1 |
| Abnormal waist to hip ratio 0.410733829418328 0.2781579228414895 0.7808911333967679 1.0 0.9886207860953212 6 P17096 1 |
| Increased proteinogenic amino acid level in urine 0.3803206318776094 0.2781517458088794 0.7808958749349184 1.0 0.9886207860953212 10 Q4J6C6 1 |
| Death in infancy 0.3897960359229425 0.2763348306047508 0.7822909060506553 1.0 0.9890873530242208 53 Q15904,P07602,P04062,P16278,P51114 5 |
| Aplasia hypoplasia involving the pelvis 0.371236904328008 0.2756508519437726 0.7828162479696423 1.0 0.9890873530242208 13 P50542,O75431,Q96L58,Q14839,O95831,Q13363 6 |
| Abnormal caudate nucleus morphology 0.3956702733687514 0.2753549517909137 0.7830435500300472 1.0 0.9890873530242208 8 P42858,Q13057,O75306 3 |
| Mixed hearing impairment 0.4094930433185375 0.2749049759461405 0.7833892441349315 1.0 0.9890873530242208 6 P62857,Q96L58 2 |
| Persistence of hemoglobin f 0.3595996002748848 0.2741710475434654 0.7839531766253387 1.0 0.9893393791506218 18 P08708,Q07020,P61313,P62857,P46777,P18077,P62899 7 |
| Abnormal number of erythroid precursors 0.3421229481689643 0.2679138261196691 0.7887656509242631 1.0 0.9940972314934268 22 P08708,Q07020,P61313,P62857,P46777,P18077,P62899 7 |
| Thick hair 0.4053960081972446 0.2642971295474046 0.791550971955779 1.0 0.9962088508518048 6 Q9Y487 1 |
| Abnormality of dental morphology 0.378059944415954 0.2639053457760103 0.7918528563047349 1.0 0.9963093969990608 47 P06748,P28482,P61586,Q9Y487,Q15056,Q9H1A4,Q9NX24,P04080,Q96L58,Q9Y619,Q7LGA3,P41227,Q8IY37,O95453,Q9UBM7,Q9NPE3,Q9H9Y6,Q9UM00,P42858 19 |
| Vomiting 0.412619631781233 0.2615446752070618 0.7936725022264941 1.0 0.9972233592304856 82 P11117,Q9UBM7,Q96EY8,P07602,P06280,P35610,Q9Y619,P40939,P23786 9 |
| Contractures of the large joints 0.589179380545179 0.2614179553351888 0.7937702119740724 1.0 0.9972233592304856 3 P50542 1 |
| Mandibular prognathia 0.3439016783178344 0.2607727826152496 0.794267734731509 1.0 0.9972233592304856 28 Q14696,P10644,P27635,Q06787,P48651,P16278,Q9BUK6,Q05086,Q15022 9 |
| Delayed cranial suture closure 0.344045413755313 0.2606810863142292 0.7943384528222457 1.0 0.9972233592304856 29 Q32P28,O75844,Q8NCH0,P48651 4 |
| Broad neck 0.3749556287579463 0.2601040873775923 0.7947834851420805 1.0 0.9972233592304856 11 P62857,P11166,P62140 3 |
| Moderate global developmental delay 0.3904917087437642 0.2599713636146802 0.7948858628338513 1.0 0.9972233592304856 8 O95831 1 |
| Abnormal fear anxiety related behavior 0.4128865988830086 0.2599625498671858 0.7948926615239142 1.0 0.9972233592304856 85 P42858,Q9BUK6,P17900,P35637,P11166,P31930,P10644,Q15165,P62140,P06280,O75503,Q06787,Q13501,Q92804,Q7LGA3,Q8N0X7 16 |
| Focal segmental glomerulosclerosis 0.3456033178911871 0.2594575491014857 0.7952822316646684 1.0 0.9972233592304856 20 Q14108,Q27J81,P52565 3 |
| Easy fatigability 0.3511989390749951 0.2593923065050558 0.7953325651503886 1.0 0.9972233592304856 19 Q969Y2,P10644,P50570,O00170,P21912,Q9NWM8 6 |
| Thickened helices 0.4518546908576729 0.2591640069386652 0.7955087008499677 1.0 0.9972233592304856 4 P36507 1 |
| Abnormal finger phalanx morphology 0.3732855532340728 0.2585430669341719 0.7959878157874987 1.0 0.9972233592304856 129 P53634,O75844,Q9UBM7,Q8IWS0,O43924,Q14739,Q96L58,Q10713,Q9UPP1,Q9Y619,P48651,Q15125,Q7LGA3,Q13363 14 |
| Abnormal leukocyte count 0.4125451301818726 0.2580025590659802 0.7964049322240834 1.0 0.9972233592304856 90 Q15904,Q96EY8,Q14739,P10644,P35610,Q13432,Q14108,P04062,P02786,O14936 10 |
| Abnormal corpus striatum morphology 0.3582775427070048 0.2569537847479207 0.7972144498488023 1.0 0.9972233592304856 14 P42858,Q13057,O95831,O75306 4 |
| Abnormality of globe location 0.3250218237619784 0.256913676092686 0.7972454128607358 1.0 0.9972233592304856 220 O75844,O43924,O60701,P48651,Q9Y487,Q15125,Q13363,Q15022,P62140,Q96L58,Q5KU26,Q14839,Q06787,Q7LGA3,Q05086,O95831,P04066,O14936,Q8IWS0,Q15904,Q14739,Q32P28,P10644,P16278,Q9UBM7,P36507,Q8NCH0,Q10471,P04062,P42858,Q8N0X7 31 |
| Bloody diarrhea 0.4494505494505513 0.2539753240036703 0.7995146217754736 1.0 0.9984858008805176 4 Q6PGP7,Q02241,Q15477 3 |
| Abnormality of bone marrow cell morphology 0.3727968788070973 0.2537197488376412 0.7997120758290601 1.0 0.9984858008805176 45 O95453,P05166,Q96EY8,P10644,Q14739,Q14108,P04062,Q96J02 8 |
| Plantar hyperkeratosis 0.3498284562669266 0.2528740719764152 0.8003655260015248 1.0 0.9984858008805176 34 P53634,O95453,P36507,Q06136,O75431,P09493,P21912,Q9NPE3,Q14126 9 |
| Dystonia 0.3256718799423284 0.2527266129097759 0.8004794811871885 1.0 0.9984858008805176 149 P05166,O00584,P07602,Q99720,Q96N66,O60701,P17900,P11166,Q96L58,O75306,O14936,Q9HA77,O15118,P61960,P16278,Q13501,P35637,P43897,P04062,P42858 20 |
| Slender finger 0.3518677837416606 0.2514260015989993 0.8014847668492808 1.0 0.9992316993770204 35 P53634,Q96L58,Q13363,Q9UPP1 4 |
| Hypoplasia of the radius 0.3982812590274632 0.2498038098316018 0.8027390733199098 1.0 1.0 7 P10644 1 |
| Weak cry 0.3980084942764404 0.2490811744360264 0.8032979912516007 1.0 1.0 7 Q13510 1 |
| Epicanthus 0.3622668080696132 0.2484841280467642 0.8037598490481261 1.0 1.0 134 O43924,P62266,Q15392,O60701,Q9Y487,Q15125,Q13363,P37268,P62140,P11233,Q7LGA3,Q05086,O14936,P10644,Q10713,Q9UBM7,P36507,Q4J6C6,Q8N0X7 19 |
| Abnormality of humoral immunity 0.377217887180602 0.2480642857318744 0.8040846679492155 1.0 1.0 48 Q14108,P04062,Q15904,P02786 4 |
| Multifocal seizures 0.4100119202255037 0.2474452009901633 0.8045636962076137 1.0 1.0 5 Q10471,Q9HA77 2 |
| Exostoses 0.5807760421133754 0.2458558430649278 0.8057938269059703 1.0 1.0 3 O75874 1 |
| Abnormal consumption behavior 0.3392986023766938 0.245150835946813 0.8063396421744713 1.0 1.0 24 P35610,Q05086,Q4J6C6 3 |
| Streak ovary 0.3970130755888157 0.243243338938053 0.8078168952188163 1.0 1.0 6 P51809 1 |
| Aspiration pneumonia 0.3380931949933362 0.2426137228372477 0.8083046495044977 1.0 1.0 23 P04062,P16278 2 |
| Abnormal nephron morphology 0.3822176130957734 0.2385324877426696 0.8114681208315118 1.0 1.0 52 P06280,Q14108,P23786 3 |
| Redundant skin 0.3369410779095742 0.2366089230875987 0.8129601971283085 1.0 1.0 23 P36507,Q8NCH0,P48651,Q9Y487,Q15022 5 |
| Decreased methylcobalamin 0.5739385065885863 0.2363966492249616 0.8131248960528821 1.0 1.0 2 Q99707 1 |
| Toe syndactyly 0.3751482392304602 0.235436744634982 0.8138697693710846 1.0 1.0 48 Q9UBM7,O43924,Q15125 3 |
| Gonosomal inheritance 0.393955977947808 0.2352198570526507 0.8140380946188617 1.0 1.0 61 P13473,Q15904,P06280,Q9UPP1,Q06787,Q15125,O95831,O14936 8 |
| Acute phase response 0.3507587101101028 0.2334080593156162 0.8154445555621348 1.0 1.0 18 P36551,P21912,P01889,P10644 4 |
| Localized hirsutism 0.4388642486737546 0.2319172900259697 0.8166022551105645 1.0 1.0 4 P27635 1 |
| Spastic tetraplegia 0.3484669571338485 0.2313748826339411 0.8170235765455975 1.0 1.0 35 Q86XL3,P04066,P16278 3 |
| Triphalangeal thumb 0.3451714666202329 0.2308437078763148 0.817436224145845 1.0 1.0 19 P08708,Q07020,P61313,P62857,P46777,P18077,P62899 7 |
| Abnormal breath sound 0.3684261860519461 0.2302070884472405 0.8179308539865213 1.0 1.0 9 Q969Y2 1 |
| Gonadal dysgenesis 0.365771899703476 0.2289715639039421 0.8188910177415414 1.0 1.0 11 Q96GM8,P51809 2 |
| Posterior subcapsular cataract 0.4016123122022662 0.2286533137224125 0.8191383837078663 1.0 1.0 5 P36405,P20839,Q9H6K4,P04181 4 |
| Leukoencephalopathy 0.4071599490489502 0.2249923928622251 0.8219851921763552 1.0 1.0 81 P17900,O00584,P07602,O95831,Q9NX14,O75503,P49770,Q9NR50,O75306,Q13363 10 |
| Embryonal renal neoplasm 0.3636310544673223 0.2234772837900853 0.8231640610019624 1.0 1.0 10 Q9UPY3,Q8IY37,P51809 3 |
| Atelectasis 0.3655737596121235 0.2215605761091666 0.824655975404855 1.0 1.0 9 Q96L58 1 |
| Abnormality of skin physiology 0.407112526970072 0.2210475919222758 0.8250553763981905 1.0 1.0 83 P53634,Q9UBM7,P05166,Q8NCH0,Q14739,Q92542,P10321,P01889,P02786,Q15125,P38571 11 |
| Abnormal size of the palpebral fissures 0.3968665867052172 0.2196923380839517 0.8261107722221479 1.0 1.0 66 Q8IWS0,O75844,P42858,P36507,Q5KU26,Q14839,Q9Y619,O60701,Q7LGA3 9 |
| Aplasia hypoplasia involving the carpal bones 0.4322344322344344 0.2187690986646091 0.8268299194850641 1.0 1.0 4 Q9Y5S9,P54886,Q14807 3 |
| Carpal bone hypoplasia 0.4322344322344344 0.2187690986646091 0.8268299194850641 1.0 1.0 4 Q9Y5S9,P54886,Q14807 3 |
| Abnormal circulating gonadotropin concentration 0.3620838034504192 0.2186256966233641 0.8269416339877131 1.0 1.0 10 Q06787,P51809 2 |
| Ridged nail 0.3964822279223099 0.2176159902912055 0.8277283246116454 1.0 1.0 5 P18074,O60832,P16615,P19447 4 |
| Panhypogammaglobulinemia 0.3964822279223092 0.2176159902912038 0.8277283246116467 1.0 1.0 5 P18074,Q6PGP7,P19447,Q15477 4 |
| Zonular cataract 0.3642330750641708 0.217539529340313 0.8277879045415624 1.0 1.0 9 P11166 1 |
| External ophthalmoplegia 0.3620422763843249 0.2173701182138965 0.8279199166709164 1.0 1.0 12 Q07021,O95352,P21912 3 |
| Mitral valve prolapse 0.3512032631276774 0.2151392517934277 0.8296587518376926 1.0 1.0 17 Q9NX14,Q96L58,Q06787,P46777 4 |
| Decreased circulating acth level 0.5622795681985189 0.2139568535539994 0.8305807038912381 1.0 1.0 3 P10644 1 |
| Abnormal leukocyte physiology 0.3781039430589661 0.2133372845597637 0.8310638939935289 1.0 1.0 52 Q14108,P04062,Q15904,P02786 4 |
| Carious teeth 0.3512244024373929 0.208724526873419 0.8346632921526145 1.0 1.0 38 O95453,P06748,P62140,Q96L58,Q9Y2V7,Q9NPE3,Q9Y487,P16278,Q15056,Q9H1A4,Q86W42 11 |
| Cerebral hypoplasia 0.3592794479608175 0.2080133480364816 0.8352185450867262 1.0 1.0 12 Q9UBM7 1 |
| Tented upper lip vermilion 0.3490426371223796 0.2059145324991562 0.8368576734113324 1.0 1.0 17 Q10471,Q14696,Q4J6C6 3 |
| Babinski sign 0.404380381327977 0.2057374774960404 0.8369959819407824 1.0 1.0 81 Q5T440,Q9NR77,Q8N2K0,P35637,P11166,O00400,Q6PJG6,P07602,P21912,O14773,Q99720,P37198,O60701,P40939,Q13501,P42858,O95831,Q8N0X7 18 |
| Abnormal soft palate morphology 0.3854642047769291 0.2053495410732753 0.837299040496972 1.0 1.0 58 Q15392,Q9Y619,O43505 3 |
| Flat nasal alae 0.5523426061493439 0.1986274432896502 0.8425541846834552 1.0 1.0 2 P19447 1 |
| Abnormality of amino acid metabolism 0.5523426061493439 0.1986274432896502 0.8425541846834552 1.0 1.0 2 P19447 1 |
| Neoplasm of the pituitary gland 0.356464341134568 0.1986144082167482 0.8425643820259991 1.0 1.0 12 O00170,P60866,O75874,P10644 4 |
| Abnormal eyelid morphology 0.3417148110406782 0.1979168429011613 0.8431101261073932 1.0 1.0 273 O75844,O43924,P62266,Q15392,O60701,Q9Y487,Q15125,Q13363,Q15022,P37268,O14646,P34913,P04080,P62140,P11233,Q5KU26,Q86XL3,Q9UPP1,Q9Y619,Q14839,Q7LGA3,Q05086,O14936,Q8IWS0,P01130,P10644,Q10713,P01889,O95453,Q9UBM7,P36507,Q8NCH0,Q4J6C6,Q10471,P04062,P42858,Q8N0X7 37 |
| Narrow face 0.3292752340075744 0.1974262536455333 0.8434939864703539 1.0 1.0 23 Q7LGA3,P36507,Q06787 3 |
| Profound global developmental delay 0.3679953220777325 0.197413919683544 0.8435036376282445 1.0 1.0 8 P37268 1 |
| Flared nostrils 0.5514463566459172 0.1967981165077182 0.8439855251038506 1.0 1.0 3 Q93008,P60953 2 |
| Abnormal hdl cholesterol concentration 0.4203629484817854 0.1965322437804326 0.8441935978528614 1.0 1.0 4 P38571 1 |
| Macroscopic hematuria 0.5508784773060096 0.1962625354604179 0.84440468345656 1.0 1.0 2 P00492 1 |
| Uric acid nephrolithiasis 0.5508784773060096 0.1962625354604179 0.84440468345656 1.0 1.0 2 P00492 1 |
| Abnormal connection of the cardiac segments 0.3490520402804389 0.1961588175578043 0.8444858606282633 1.0 1.0 38 O75844 1 |
| Mixed demyelinating and axonal polyneuropathy 0.5501464128843416 0.19508939495527 0.8453229646684464 1.0 1.0 2 P00403 1 |
| Abnormal motor evoked potentials 0.55014641288434 0.1950893949552674 0.8453229646684484 1.0 1.0 2 Q9UNE7 1 |
| Abnormal morphology of the abdominal musculature 0.3758461508004477 0.1941522922173861 0.8460566372812819 1.0 1.0 6 Q8NCH0 1 |
| Abnormality of urinary uric acid concentration 0.5494143484626715 0.1939224606811643 0.8462365964496661 1.0 1.0 2 P00492 1 |
| Fatiguable weakness of proximal limb muscles 0.4164835164835183 0.1896331626775511 0.8495965986487546 1.0 1.0 4 Q9Y281,P06753,Q92734 3 |
| Tracheomalacia 0.3545463002792111 0.1893234614730149 0.8498393082335873 1.0 1.0 9 Q96L58 1 |
| Abnormality of the pubic hair 0.3823296871068815 0.1889377766293455 0.8501415852937748 1.0 1.0 5 P51809 1 |
| Abnormal megakaryocyte morphology 0.3814584096738663 0.1872583938226174 0.8514580428217746 1.0 1.0 5 O75533,P62263,P04637,P22314 4 |
| Vitreous hemorrhage 0.5442898975109864 0.1859274786116807 0.8525016330892288 1.0 1.0 2 O75533 1 |
| Duplication of thumb phalanx 0.3352527832233539 0.1855280618793952 0.8528148721126709 1.0 1.0 19 P08708,Q07020,P61313,P62857,P46777,P18077,P41227,P62899 8 |
| Gangrene 0.351035736781169 0.1851188527882626 0.8531358147795658 1.0 1.0 10 P01889,P10644 2 |
| Abnormality of facial skeleton 0.3335298675272217 0.1851161089329245 0.8531379668672687 1.0 1.0 253 Q5T440,O75844,O43924,Q13432,Q15392,P48651,Q9Y487,Q15125,Q13363,P37268,Q96L58,Q86XL3,Q9Y619,Q06787,Q7LGA3,Q05086,P04066,O95831,O14936,Q14739,P10644,P16278,O95453,Q9UBM7,P36507,Q8NCH0,Q16625,Q4J6C6,P04062,P42858 30 |
| Short long bone 0.3257489987725125 0.1848228353831631 0.853367996371849 1.0 1.0 22 Q96L58,P16278 2 |
| Low alkaline phosphatase 0.5434210458243278 0.1848177594991539 0.8533719777581479 1.0 1.0 3 P38571 1 |
| Abnormal blood potassium concentration 0.3519338958870717 0.1846474001892838 0.8535056051644687 1.0 1.0 11 O00170,P11166,Q9UNF1 3 |
| Insomnia 0.3519314963943501 0.1837726188542749 0.8541918372619524 1.0 1.0 12 P42858,Q10471,P36551 3 |
| Synostosis of joints 0.3295414052314741 0.1815681676648704 0.85592163208065 1.0 1.0 28 Q13363,P48651,Q8TAA9 3 |
| Peripheral axonal neuropathy 0.3623549839233831 0.180485525130382 0.856771417069635 1.0 1.0 46 Q5T440,Q13057,P07602,O76024,O15269,O95831,Q8IV08 7 |
| External genital hypoplasia 0.3982952861446517 0.1784378508973234 0.8583791255454378 1.0 1.0 101 Q8IWS0,O75844,Q9UBM7,Q10713,P51809,Q9UPP1,Q9Y619,O43505,Q14839,Q9NX14,Q06787,P48651,P51114,P42892,Q15022,O14936 16 |
| Absence of secondary sex characteristics 0.5380539339519406 0.1771528241133998 0.8593883503857609 1.0 1.0 3 P51809 1 |
| Neonatal hypotonia 0.3576171205943007 0.1748509870261541 0.8611967235480507 1.0 1.0 44 Q96L58,P43897,P51114,P23786,O14936 5 |
| Normochromic anemia 0.3275313762859829 0.1732072532748514 0.8624885225249415 1.0 1.0 20 P08708,Q07020,P61313,P62857,P60866,P46777,P18077,P62899 8 |
| Abnormal vena cava morphology 0.4065934065934086 0.1728712181518545 0.862752655598187 1.0 1.0 4 P98175,Q86Y56,Q7LBC6 3 |
| Abnormal circulating follicle stimulating hormone concentration 0.4063339961272199 0.1724475856336724 0.8630856645535487 1.0 1.0 4 P51809 1 |
| Stomatitis 0.3483670840710277 0.1723605958226694 0.8631540484974431 1.0 1.0 12 P01889,P10644 2 |
| Abnormal distal phalanx morphology of finger 0.3511532725485852 0.1719928138226178 0.8634431785525387 1.0 1.0 41 Q7LGA3,O75844,Q96L58,P53634 4 |
| Thick corpus callosum 0.5344070278184543 0.1713626261985874 0.8639386400282771 1.0 1.0 2 Q7LBC6 1 |
| Spastic paraplegia 0.3567523946706515 0.1698739186347542 0.8651092928927162 1.0 1.0 44 Q5T440,P11166,O00400,Q9Y619,P04062,O95831,Q8N0X7 7 |
| Talipes equinovarus 0.3857093958524012 0.1690702098156087 0.8657414166979231 1.0 1.0 63 Q8NCH0,Q96L58,Q8TAA9,Q9Y619,Q15392,Q9Y487,Q15125,Q13363,P08236 9 |
| Aplasia hypoplasia of the phalanges of the hand 0.3526114103102057 0.1687248684108168 0.8660130570509876 1.0 1.0 42 Q8IWS0,O75844,P48651,Q14739 4 |
| Abnormality of the plantar skin of foot 0.3503443671835666 0.1673891149105794 0.8670638893870604 1.0 1.0 41 P53634,O95453,P36507,Q06136,O75431,O00170,P09493,P21912,Q9NPE3,Q9Y487,Q14126 11 |
| Recurrent fractures 0.3255228633105395 0.1663537535296727 0.867878566106437 1.0 1.0 26 Q32P28,Q96L58,Q13501,O95453 4 |
| Short face 0.5283044898572936 0.1639389857392468 0.86977917609026 1.0 1.0 3 Q9H9Y6 1 |
| Narrow internal auditory canal 0.5283044898572936 0.1639389857392468 0.86977917609026 1.0 1.0 3 Q9H9Y6 1 |
| Abnormality of the internal auditory canal 0.5283044898572936 0.1639389857392468 0.86977917609026 1.0 1.0 3 Q9H9Y6 1 |
| Simplified gyral pattern 0.3249270089180966 0.1633173461354565 0.8702685770211083 1.0 1.0 26 Q86XL3,Q5KU26 2 |
| Hypoplastic facial bones 0.3398529574267538 0.1615756786793377 0.8716400112190263 1.0 1.0 13 P36507,Q9H9Y6,P16435,Q15056,O15160 5 |
| Increased mean corpuscular volume 0.3249192240401734 0.1613683643395921 0.8718032817019044 1.0 1.0 20 P08708,Q07020,P61313,P62857,P46777,P18077,P62899 7 |
| Bulbar palsy 0.3438694572514569 0.1603421233246831 0.8726115784918262 1.0 1.0 11 P35637,Q13501 2 |
| Round face 0.3442530981098129 0.1594789711926839 0.8732915248321889 1.0 1.0 12 Q32P28,P10644 2 |
| Albinism 0.5241581259150881 0.1574342715228436 0.8749026054501028 1.0 1.0 2 O00203 1 |
| Fragile skin 0.3428379380804102 0.1572570452358342 0.8750422719157114 1.0 1.0 9 Q96L58,Q8NCH0 2 |
| Split nail 0.3963369963369982 0.1567466453770566 0.8754445237324864 1.0 1.0 4 P18074,P19447,O60832 3 |
| Recurrent bronchopulmonary infections 0.3963369963369982 0.1567466453770566 0.8754445237324864 1.0 1.0 4 P18074,Q96AX1,P19447 3 |
| Decreased activity of mitochondrial complex ii 0.3955111503957447 0.1555040289893781 0.8764239779052081 1.0 1.0 4 Q5T440 1 |
| Early onset of sexual maturation 0.3246454226794988 0.1533416841844733 0.8781288301356058 1.0 1.0 29 Q9UBM7,O75874,Q7LGA3,Q13363,O14936 5 |
| Facial hypertrichosis 0.3630025657668863 0.1531832832067353 0.878253740151326 1.0 1.0 49 P54802,O60701,P15586 3 |
| Increased serum iron 0.5193746493659852 0.1526338095614585 0.8786870612127997 1.0 1.0 3 Q6PGP7 1 |
| Gliosis 0.3410341884453322 0.1507928524422366 0.8801391247180697 1.0 1.0 38 P42858,Q6PJG6,Q10713,P37198,Q9NR50,P49770,P04062,O75306,Q13501,P35637 10 |
| Anisocytosis 0.355871348156916 0.1494953970520475 0.881162741176158 1.0 1.0 7 Q8NBF2,O14936 2 |
| Chorea 0.3902702302070782 0.1493888682362936 0.8812467950283036 1.0 1.0 71 P42858,P17900,P11166,Q9HA77,P07602,Q99720,Q96N66,O60701,O75306,P35637,Q96IX5,O14936 12 |
| Inappropriate antidiuretic hormone secretion 0.5175695461200682 0.1491029132238359 0.881472427168621 1.0 1.0 2 Q13724 1 |
| Eeg with focal sharp waves 0.5159282314170632 0.1484728497558791 0.8819696112146262 1.0 1.0 3 Q9Y617,P08559 2 |
| Abnormal macroscopic urine appearance 0.3267060356006857 0.1482764223154397 0.8821246219279486 1.0 1.0 19 P52565,Q27J81,P23786 3 |
| Abnormality of neuronal migration 0.371961743647991 0.1482061169173197 0.8821801045298818 1.0 1.0 123 Q9UBM7,O43924,Q16625,Q10713,Q5KU26,Q86XL3,O43505,Q96N66,Q06787,Q15392,P23786,P37268 12 |
| Malignant hyperthermia 0.515023788854627 0.1473994193042951 0.8828167638445743 1.0 1.0 3 P36871 1 |
| Abnormality of central nervous system electrophysiology 0.3760347136486188 0.14584829589789 0.8840411488948581 1.0 1.0 120 P07602,Q96N66,O75503,O60701,Q15125,Q13363,P11166,P04080,P50897,Q14108,Q9BQE5,Q05086,O14936,P00367,Q8IWS0,Q9HA77,Q13501,P36507,P13073 19 |
| Speech articulation difficulties 0.5128747004323498 0.1448795742041879 0.8848059536912192 1.0 1.0 3 P42858 1 |
| Lower eyelid coloboma 0.38791208791209 0.1444587397170512 0.88513823558019 1.0 1.0 4 Q9H9Y6,O15160,Q13428 3 |
| Low hanging columella 0.3375428918306362 0.143516910430492 0.8858819569025689 1.0 1.0 9 Q96J02 1 |
| Abnormal corpus callosum morphology 0.3240238750696323 0.1395038212693969 0.88905203653127 1.0 1.0 237 O43924,P07602,Q96N66,O75503,Q15392,P48651,Q15125,Q13363,P37268,Q5KU26,Q86XL3,Q7LGA3,Q05086,O95831,P23786,Q10713,O43505,Q9UBM7,P04062 19 |
| Malignant genitourinary tract tumor 0.3288153518233665 0.1392319931375861 0.8892668278477609 1.0 1.0 18 P08708,Q07020,P61313,P62857,P46777,P18077,P62899 7 |
| Abnormal vagina morphology 0.3313027393499623 0.1386869690032873 0.8896975158104099 1.0 1.0 16 Q9UBM7,Q8IY37,P51809 3 |
| Abnormality of tibia morphology 0.3337074428036801 0.1367893945724078 0.8911972667470565 1.0 1.0 10 O95831 1 |
| Urogenital sinus anomaly 0.5031767492138083 0.1340430056940338 0.8933685676423242 1.0 1.0 3 P51809 1 |
| Hypoplastic ilia 0.3448445589655585 0.1334157522718472 0.8938645882625726 1.0 1.0 6 Q96L58 1 |
| Abnormal aortic morphology 0.3941516565845452 0.1321169401421537 0.8948917970691732 1.0 1.0 83 P42858,O75844,Q9UBM7,P01130,P62140,Q96L58,Q14839,Q06787,P04062,P01889,Q7LGA3 11 |
| Generalized amyotrophy 0.3143833843603422 0.1310064084136135 0.8957702379186745 1.0 1.0 22 P13473 1 |
| Abnormal endocrine physiology 0.3481128618541527 0.1306366643155012 0.8960627373271017 1.0 1.0 5 Q13724,Q13423,P16435,P50336 4 |
| Cerebral white matter hypoplasia 0.342030995029087 0.1285822462536484 0.897688215113988 1.0 1.0 6 P11166 1 |
| Facial cleft 0.375824175824178 0.1283236105469238 0.8978928810564597 1.0 1.0 4 Q9H9Y6,O15160,Q13428 3 |
| Large fleshy ears 0.4974377745241646 0.1265733727024229 0.8992780729102312 1.0 1.0 2 P21281 1 |
| Widened cerebral subarachnoid space 0.4974377745241578 0.1265733727024162 0.8992780729102365 1.0 1.0 2 P00403 1 |
| Encephalopathy 0.3942436458784176 0.126180607741884 0.8995889614445463 1.0 1.0 89 Q5T440,P05166,O43772,P11166,P07602,Q5KU26,P43897,Q9Y619,Q9NX14,P04062,O60701,P40939,O75306,P23786 14 |
| Abnormal 5th finger morphology 0.3924125024861646 0.1250519556136977 0.9004824184934574 1.0 1.0 81 Q9UBM7,O43924,P13073,Q14739,Q96L58,Q10713,Q9Y619,Q15125 8 |
| Leukocytosis 0.3165726075208739 0.1247030428992659 0.9007586483234208 1.0 1.0 20 P35610,O14936 2 |
| Male hypogonadism 0.3393345398933504 0.1240568368036812 0.9012702733218904 1.0 1.0 6 O00170,O76024 2 |
| Hyperactivity 0.3774054097992452 0.1239789123218965 0.9013319717593602 1.0 1.0 117 Q9UBM7,Q10713,P54802,O75503,Q96N66,Q06787,Q15125,P15586,Q7LGA3,Q05086,O14936,P00367 12 |
| Abnormality of the lens 0.2938752070838538 0.1232125528647716 0.9019387855630474 1.0 1.0 174 Q06136,P06280,P04439,Q15125,Q8N2K0,P11166,Q96L58,Q7LGA3,P23786,O14936,Q8IWS0,O00400,Q10713,O43505,P01889,O95453,Q9UBM7,P36507,Q16625 19 |
| Prolonged qtc interval 0.493777452415819 0.1229358849709727 0.9021578690464797 1.0 1.0 2 P0DP25 1 |
| Abnormal mitochondrial number 0.4930453879941448 0.1222248124239344 0.902720976301064 1.0 1.0 2 Q9BQP7 1 |
| Abnormality of the dorsal column of the spinal cord 0.4886164447417418 0.1193823850168873 0.9049724162049042 1.0 1.0 3 Q6PI48 1 |
| Arthropathy 0.340180261707898 0.1193668058195383 0.9049847583522872 1.0 1.0 5 O15269 1 |
| Severely reduced visual acuity 0.4897510980966394 0.119092003214892 0.9052024661655064 1.0 1.0 2 P35222 1 |
| Abnormality of the sense of smell 0.326593202873654 0.1190207879225857 0.9052588864647502 1.0 1.0 13 P04062 1 |
| Basal ganglia calcification 0.3393184316599425 0.1181928170049227 0.90591488126507 1.0 1.0 5 Q9Y3Z3,O00429,P00403,P19447 4 |
| External ear malformation 0.3287473363574085 0.117988434807804 0.9060768215578106 1.0 1.0 11 P41227,Q8NCH0,P50542 3 |
| Abnormal circulating dicarboxylic acid concentration 0.3413472783811944 0.1173508133589123 0.9065820599225948 1.0 1.0 41 Q96EY8,P23786,P37268,Q14739 4 |
| Increased circulating prolactin concentration 0.3365026683205233 0.1144256152597692 0.9089004093090254 1.0 1.0 5 Q9BUK6 1 |
| Fetal onset 0.3341765318582386 0.1113922338492037 0.9113053182262754 1.0 1.0 5 P62140 1 |
| Genetic anticipation 0.4809663250366069 0.1112636597454303 0.911407271755332 1.0 1.0 2 P54886 1 |
| Progressive visual field defects 0.4747437774524258 0.1061676454184563 0.915449341044819 1.0 1.0 2 P35222 1 |
| Reticulated skin pigmentation 0.4736456808199181 0.10530591797798 0.916133067220542 1.0 1.0 2 Q9NX24 1 |
| Bruxism 0.3324486364894113 0.1051889923971437 0.9162258450592804 1.0 1.0 7 P42858 1 |
| Abnormal brain lactate level by mrs 0.3279330354030978 0.1049930205381327 0.916381346913906 1.0 1.0 8 O75306,O00429,P21912 3 |
| Upper eyelid coloboma 0.4692532942898976 0.1019692339667255 0.918781095500316 1.0 1.0 2 Q6NUK1 1 |
| Abnormal circulating amino acid concentration 0.3463706509784889 0.1010508010173443 0.9195101331472836 1.0 1.0 45 P05067,Q9Y619 2 |
| Bladder diverticulum 0.3240469208211151 0.1003736721446468 0.9200476707759822 1.0 1.0 6 P78347,P35250,Q02809,Q9NWM8,Q15056 5 |
| Elfin facies 0.3239281788200765 0.0988664885411819 0.921244276779869 1.0 1.0 5 Q15056,P78347,P35250,Q9Y285 4 |
| Abnormal scapula morphology 0.3438861031640343 0.0981666964028255 0.921799927120906 1.0 1.0 44 P08708,Q14739,Q13642,Q07020,Q9UM00,P50402,P61313,Q9Y619,P62857,P60866,Q9Y487,P46777,P18077,Q13501,Q9UHD8,P62899,Q9Y5P6 17 |
| Visual field defect 0.3353068340264601 0.0962277043762203 0.9233397279994746 1.0 1.0 40 Q5T440,P50542,P04439,Q9H061,P01889,O75306 6 |
| Abnormality of the ovary 0.3545485688374965 0.0957370925643253 0.9237293805846872 1.0 1.0 50 O75844,Q9UPY3,Q01844,P10644,O00170,O75874,P21912,P51809,Q9NR50,Q06787,P49770,Q13144,Q86W42 13 |
| Glossoptosis 0.32012129787942 0.0948302341186452 0.924449671726838 1.0 1.0 6 P08754,Q9H9Y6,P98175 3 |
| Thick upper lip vermilion 0.3215225882529252 0.0926177233580964 0.9262072630661264 1.0 1.0 8 P41227,Q96GM8,Q86W42 3 |
| Lower limb spasticity 0.3826260252303609 0.0919920953924272 0.9267043199248516 1.0 1.0 73 Q5T440,P11166,O00400,P07602,Q99720,Q9Y619,P04062,O75306,P35637,O95831,Q8N0X7 11 |
| Elevated gamma glutamyltransferase level 0.3416754927644651 0.0919159972351127 0.926764781311519 1.0 1.0 4 P38571 1 |
| Abnormality of canine 0.4491215226939974 0.0888150656065019 0.9292288843861574 1.0 1.0 2 O60341 1 |
| Autosomal dominant germline de novo mutation 0.4487554904831666 0.0886066019269692 0.9293945611470852 1.0 1.0 2 P28482 1 |
| Abnormal astrocyte morphology 0.3147633138590197 0.0882569783655224 0.9296724317612008 1.0 1.0 15 O95831,Q13501 2 |
| Undetectable light and dark adapted electroretinogram 0.3362637362637384 0.0873223278426627 0.930415306756023 1.0 1.0 4 P20839,Q15555,P37198 3 |
| Retinal vascular tortuosity 0.3174866157620953 0.0851761734070621 0.9321213325973408 1.0 1.0 8 O75306 1 |
| Abnormality of the axillary hair 0.3311486421506194 0.0832569725732314 0.9336472123739348 1.0 1.0 4 P51809 1 |
| Type 2 muscle fiber atrophy 0.4393994873672647 0.0829592044297192 0.9338839778996096 1.0 1.0 3 Q06210,Q9NP81 2 |
| Low back pain 0.4377745241581229 0.0828232064569943 0.9339921164360372 1.0 1.0 2 P54886 1 |
| Difficulty standing 0.4379348224093739 0.0821553179304571 0.934523204404341 1.0 1.0 3 Q92734,Q15813 2 |
| Abnormal left ventricular outflow tract morphology 0.3293040293040313 0.0818553458811208 0.934761744045741 1.0 1.0 4 O43684,O60566,O43683 3 |
| Subvalvular aortic stenosis 0.3293040293040313 0.0818553458811208 0.934761744045741 1.0 1.0 4 O43684,O60566,O43683 3 |
| Abnormal sperm motility 0.4300878477306003 0.0792884758928413 0.936803172348868 1.0 1.0 2 Q86Y56 1 |
| Urinary bladder sphincter dysfunction 0.3140507851679913 0.0790544157346505 0.9369893409563196 1.0 1.0 8 Q06787 1 |
| Phonophobia 0.3238095238095258 0.0778777617217521 0.9379252892505764 1.0 1.0 4 Q15056,P78347,P35250 3 |
| Flat cornea 0.3238095238095258 0.0778777617217521 0.9379252892505764 1.0 1.0 4 Q15056,P78347,P35250 3 |
| Nystagmus induced head nodding 0.3238095238095258 0.0778777617217521 0.9379252892505764 1.0 1.0 4 Q15056,P78347,P35250 3 |
| Overfriendliness 0.3238095238095258 0.0778777617217521 0.9379252892505764 1.0 1.0 4 Q15056,P78347,P35250 3 |
| Aplasia hypoplasia of the cerebral white matter 0.3138139940406689 0.0757992446666379 0.9395788170665668 1.0 1.0 7 Q9Y320,P11166,O60341 3 |
| Nyctalopia 0.3092543404518726 0.0752979561448309 0.9399776476279806 1.0 1.0 29 Q13432,Q10713 2 |
| Downslanted palpebral fissures 0.3777948121056436 0.0751710341700522 0.9400786305140768 1.0 1.0 111 P42858,O75844,Q9UBM7,P36507,Q8NCH0,Q10471,Q15022,Q15392,Q9Y487,Q15125,Q8N0X7,Q7LGA3,Q05086,Q13363,O14936,O14646 16 |
| Macrodontia 0.3138741574804963 0.0745733218013899 0.9405542011208112 1.0 1.0 12 Q7LGA3 1 |
| Tinnitus 0.3103061646423027 0.0723338949781191 0.9423361910433388 1.0 1.0 11 Q9NR77,P21912,O95831,Q02978 4 |
| Camptodactyly of toe 0.3021154063781667 0.0721593640943292 0.9424750835872542 1.0 1.0 6 Q8IWS0 1 |
| Nocturnal hypoventilation 0.4073938506588697 0.0710232173518027 0.9433792773738212 1.0 1.0 2 Q9Y281 1 |
| Lambdoidal craniosynostosis 0.4073938506588522 0.0710232173517974 0.9433792773738254 1.0 1.0 2 P16435 1 |
| Craniosynostosis 0.3089934421561683 0.0709737748365983 0.94341862749049 1.0 1.0 30 Q96L58,Q8NCH0,Q9Y619 3 |
| Hypokalemia 0.3009530791788861 0.0708481776723676 0.9435185878936752 1.0 1.0 6 O00170,P0DP25,P04637,Q9UNF1,Q9H3U1 5 |
| Elevated lactate pyruvate ratio 0.4130355181252289 0.0705972024811281 0.943718336955894 1.0 1.0 3 P53597,O96000 2 |
| Progressive external ophthalmoplegia 0.309497616428307 0.0697270939601816 0.9444108763983354 1.0 1.0 7 Q9BQP7,Q07021,O60313,P26640,P00403,P12235 6 |
| Abnormal renal cortex morphology 0.342428708082608 0.0696715977155865 0.9444550485704806 1.0 1.0 46 P06280,Q14108 2 |
| Abnormal urine protein level 0.3443165178346318 0.0696469981010129 0.9444746286600868 1.0 1.0 47 P06280,Q14108 2 |
| Response to drugs acting on neuromuscular transmission 0.4046136946173563 0.0675102194309134 0.9461755266582534 1.0 1.0 3 Q06210,Q9Y5P6 2 |
| Single fiber emg abnormality 0.4046136946173563 0.0675102194309134 0.9461755266582534 1.0 1.0 3 Q06210,Q9Y5P6 2 |
| Muscle fiber tubular inclusions 0.4046136946173563 0.0675102194309134 0.9461755266582534 1.0 1.0 3 Q06210,Q9Y5P6 2 |
| Emg decremental response of compound muscle action potential to repetitive nerve stimulation 0.4046136946173563 0.0675102194309134 0.9461755266582534 1.0 1.0 3 Q06210,Q9Y5P6 2 |
| Spontaneous abortion 0.3916544655929713 0.0669075621208668 0.946655292829316 1.0 1.0 2 P50570 1 |
| Phocomelia 0.3876281112737895 0.0660336497534678 0.9473510352797988 1.0 1.0 2 Q9Y5S9 1 |
| Hypoventilation 0.3027522935779898 0.0656838135712568 0.9476295594799184 1.0 1.0 9 P51608,O43819,Q13724,Q9Y281,P61978,O75306,Q00577,P06753 8 |
| Tooth malposition 0.3797254465266355 0.0653651851976926 0.947883242963838 1.0 1.0 75 O75844,Q9UBM7,Q14739,P62140,P10644,Q92643,P16278,Q05086,Q8N0X7,P08236 10 |
| Exercise induced rhabdomyolysis 0.3980227023068474 0.0653519823603971 0.947893754827882 1.0 1.0 3 P00338,P04075 2 |
| Abnormal mean corpuscular hemoglobin concentration 0.3961918711094836 0.0647904935245007 0.9483408106160672 1.0 1.0 3 P18074,P19447 2 |
| Bronchospasm 0.3961918711094836 0.0647904935245007 0.9483408106160672 1.0 1.0 3 P18074,P19447 2 |
| Concave nail 0.3961918711094836 0.0647904935245007 0.9483408106160672 1.0 1.0 3 P18074,P19447 2 |
| Abnormality of dna repair 0.3961918711094836 0.0647904935245007 0.9483408106160672 1.0 1.0 3 P18074,P19447 2 |
| Defective dna repair after ultraviolet radiation damage 0.3961918711094836 0.0647904935245007 0.9483408106160672 1.0 1.0 3 P18074,P19447 2 |
| Increased mean corpuscular hemoglobin concentration 0.3961918711094836 0.0647904935245007 0.9483408106160672 1.0 1.0 3 P18074,P19447 2 |
| Abnormal bronchus physiology 0.3961918711094836 0.0647904935245007 0.9483408106160672 1.0 1.0 3 P18074,P19447 2 |
| Low set nipples 0.3961918711094836 0.0647904935245007 0.9483408106160672 1.0 1.0 3 P18074,P19447 2 |
| Tiger tail banding 0.3961918711094836 0.0647904935245007 0.9483408106160672 1.0 1.0 3 P18074,P19447 2 |
| Numerous pigmented freckles 0.3961918711094836 0.0647904935245007 0.9483408106160672 1.0 1.0 3 P18074,P19447 2 |
| Joint hyperflexibility 0.3068175391390979 0.0635998136616413 0.949288880119998 1.0 1.0 29 Q8IWS0,Q05086,P48651,Q9Y619 4 |
| Vertebral wedging 0.3678623718887179 0.062627585112776 0.9500630627857436 1.0 1.0 2 Q96AY3 1 |
| Velopharyngeal insufficiency 0.3877700476016111 0.0624087245412362 0.9502373473260936 1.0 1.0 3 Q9BUF5,Q86W42 2 |
| Lung adenocarcinoma 0.3866715488831931 0.0621214546171976 0.9504661116794 1.0 1.0 3 Q14790,P30154 2 |
| Narrow mouth 0.3580872395049753 0.0618560110294759 0.9506774984909834 1.0 1.0 56 P42858,O75844,Q8NCH0,Q9Y619,Q15392,P04062,Q7LGA3 7 |
| Functional motor deficit 0.3636343561503688 0.0615756123868444 0.9509007985755824 1.0 1.0 122 Q5T440,Q13642,P07602,O14773,Q99720,P13473,O00170,P21912,P37198,Q9NX14,Q69YN2,Q9BUK6,Q05086,P23786,Q9NR77,Q969Y2,P10644,Q07021,P27635,P40939,Q13501,P35637,Q13510,Q13057,P04062,P42858,Q9H2D1,Q8N0X7 28 |
| Hypoplastic helices 0.3488286969253269 0.0604686726676913 0.9517823657666868 1.0 1.0 2 P08754 1 |
| Abnormal response to acth stimulation test 0.3477306002928191 0.0603708791122163 0.9518602514421436 1.0 1.0 2 P16435 1 |
| Temporal optic disc pallor 0.3389458272327882 0.0596764894477718 0.9524132970574336 1.0 1.0 2 O00429 1 |
| Morning glory anomaly 0.3389458272327882 0.0596764894477718 0.9524132970574336 1.0 1.0 2 O00429 1 |
| Congenital bilateral hip dislocation 0.3356515373352817 0.0594531472314176 0.9525911825172766 1.0 1.0 2 Q9Y4R8 1 |
| Focal tonic seizure 0.3345534407027775 0.0593828131516582 0.9526472020179488 1.0 1.0 2 Q9H936 1 |
| Maturity onset diabetes of the young 0.3341874084919425 0.0593598109776441 0.9526655227790792 1.0 1.0 2 Q9UKG1 1 |
| Infertility 0.3014850550393015 0.0591757827828314 0.9528120983720896 1.0 1.0 7 P51809 1 |
| Apnea 0.3779612651566134 0.0590876871112682 0.9528822657686564 1.0 1.0 74 O43772,O43924,P07602,Q10713,P04062,P23786 6 |
| Abnormal esophagus morphology 0.3143625287640127 0.0584896553283373 0.9533586022413052 1.0 1.0 34 P04062,P38571,P01889 3 |
| Agenesis of incisor 0.3140556368960421 0.0583888304733874 0.9534389115851996 1.0 1.0 2 P41227 1 |
| Abnormality of thalamus morphology 0.3060182853880855 0.0556977704087604 0.9555825757032704 1.0 1.0 12 O75306,Q969Y2,P11166 3 |
| Metaphyseal sclerosis 0.2798534798534821 0.055467431394074 0.955766075972186 1.0 1.0 4 Q9H1A4,Q9Y3A5,Q14807 3 |
| Abnormal response to endocrine stimulation test 0.3478579274990846 0.0548555410120577 0.95625355164591 1.0 1.0 3 Q13423,P16435 2 |
| Abnormality of secondary sexual hair 0.2850413867833462 0.0546774389781431 0.956395443556132 1.0 1.0 6 P51809 1 |
| Abnormal blood chloride concentration 0.3460270963017213 0.0546285543599245 0.9564343896298216 1.0 1.0 3 Q13618,Q9UNF1 2 |
| Sloping forehead 0.3314407283350464 0.0541724877565855 0.9567977400775084 1.0 1.0 42 Q86XL3,P23786,Q9UPP1,Q16625 4 |
| Oligomenorrhea 0.2707951630633877 0.0540777972599738 0.956873181577702 1.0 1.0 5 O00170,P31751,Q15031,Q9UNE7 4 |
| Absent brainstem auditory responses 0.3390699377517395 0.0538412207076375 0.9570616677551116 1.0 1.0 3 Q13724,P07196 2 |
| Tritanomaly 0.3390699377517392 0.0538412207076372 0.9570616677551118 1.0 1.0 3 Q9H6K4,O00429 2 |
| Anomalous trichromacy 0.3390699377517392 0.0538412207076372 0.9570616677551118 1.0 1.0 3 Q9H6K4,O00429 2 |
| Moderately reduced visual acuity 0.3390699377517393 0.0538412207076372 0.9570616677551118 1.0 1.0 3 P63000,O00429 2 |
| Cogwheel rigidity 0.3361406078359576 0.0535432269837466 0.95729908987222 1.0 1.0 3 P12235,P37198 2 |
| Protrusio acetabuli 0.335774441596485 0.0535072991516482 0.9573277151003916 1.0 1.0 3 O75718,Q96AY3 2 |
| Limited elbow extension 0.2951300388530671 0.0515946829472709 0.9588516560923944 1.0 1.0 9 Q96L58 1 |
| Progressive leukoencephalopathy 0.304284145001831 0.0513242083609563 0.9590671780401598 1.0 1.0 3 Q5JTZ9,P31040 2 |
| Long palpebral fissure 0.2958848233874134 0.0512392795962023 0.959134852346246 1.0 1.0 22 Q5KU26 1 |
| Peripheral hypomyelination 0.2997318019836361 0.0511273801893628 0.9592240182832676 1.0 1.0 3 Q8TB36 1 |
| Lower limb metaphyseal irregularity 0.2797510069571585 0.0505042784144557 0.9597205400758944 1.0 1.0 3 Q9Y3A5,P26373 2 |
| Open bite 0.3020830049950513 0.050331430727705 0.959858277403662 1.0 1.0 13 Q15056,P08754,Q9H9Y6,P10644 4 |
| Tongue atrophy 0.2687660197729771 0.0502896167507749 0.9598915979339722 1.0 1.0 3 Q9NQT5,P07196 2 |
| Branchial fistula 0.2636146220472061 0.0502886160703187 0.9598923953524868 1.0 1.0 5 Q9H9Y6,P28482 2 |
| Abnormal circulating monocarboxylic acid cocentration 0.2800586510263936 0.0502719450631779 0.9599056800884652 1.0 1.0 6 Q9Y3A5,P37837,Q9H3U1,Q7Z2Z2,P28288 5 |
| Chronic constipation 0.2955421277579831 0.0498605119404072 0.9602335450473872 1.0 1.0 22 Q7LGA3,P04062 2 |
| Small earlobe 0.2593406593406613 0.0496308121753449 0.9604165923157602 1.0 1.0 4 P98175,P53992,P21964 3 |
| Retinal hemorrhage 0.2791651046982999 0.0495138387086917 0.960509809032279 1.0 1.0 6 Q9Y487 1 |
| Abnormal myeloid cell morphology 0.2553113553113574 0.0487471251792532 0.961120820029374 1.0 1.0 4 P41440,Q02241,P22314 3 |
| Abnormal blood inorganic cation concentration 0.3013954159716349 0.0466792810381345 0.9627688436784664 1.0 1.0 27 Q4J6C6,P10644 2 |
| Prominent occiput 0.2933035555576421 0.0458517324989895 0.96342842556791 1.0 1.0 10 Q96L58 1 |
| Abnormal adipose tissue morphology 0.3486535491790669 0.0455413053034941 0.9636758521639228 1.0 1.0 52 O75844,P04066,Q8TAA9 3 |
| Proximal muscle weakness 0.3544000374576699 0.0419084735448912 0.9665716614221462 1.0 1.0 56 P35637,P10253,P13473,Q13642,P50402,P21912,Q99720,Q13501,Q16637,Q9BUK6,P51114,Q13510 12 |
| Bone marrow hypocellularity 0.2917727658042667 0.0417157341706126 0.9667253108252454 1.0 1.0 21 O95453,Q14739 2 |
| Abnormal blood monovalent inorganic cation concentration 0.3022827687776163 0.0409713107084296 0.9673187673881838 1.0 1.0 18 P04075,P11166,P50336,O00170,Q9NP81,Q13618,P35658,P04637,P0DP25,Q9UNF1,Q9H3U1,P08397,Q13423,O95163,P36551,O95551,Q9H4A3 17 |
| Abnormal venous morphology 0.2954329480751659 0.0404721974630594 0.96771667208485 1.0 1.0 20 P04062,P48651 2 |
| Underdeveloped supraorbital ridges 0.2951927436324012 0.0400220434114395 0.968075552269284 1.0 1.0 11 P36507,P98175,P50542,Q6PGP7,Q08J23,P16435 6 |
| Abnormal aortic valve cusp morphology 0.2952065910312683 0.0396418794256771 0.9683786387106564 1.0 1.0 20 P37268 1 |
| Waddling gait 0.2912126088662515 0.0395581794317049 0.96844536930085 1.0 1.0 21 Q13642,Q13510,Q4J6C6 3 |
| Adult onset 0.3596228080875791 0.0389011316861633 0.9689692142983996 1.0 1.0 60 O95453,P31930,Q13642,P07602,Q07021,P21912,O15118,P17096,Q06787,O76024,P04062,Q27J81,Q16637,P36551,Q8IV08 15 |
| Abnormal sternum morphology 0.3811735937765116 0.0378475074387972 0.9698092660264526 1.0 1.0 90 Q13642,P50402,Q9Y487,Q13363,P62140,O75431,Q96L58,Q9Y619,Q06787,Q9BUK6,Q7LGA3,O95831,P08236,Q14739,P16278,Q13510,Q96J02,P36507,Q8NCH0,P04062,O95352 21 |
| Posterior embryotoxon 0.2935193493678343 0.0357552420432414 0.9714775219021848 1.0 1.0 14 Q9NX14,P50542,Q7LGA3 3 |
| Pes cavus 0.3792337262402974 0.0334641889450558 0.9733044229095577 1.0 1.0 84 Q5T440,Q99720,O15269,Q15022,Q8N2K0,P13473,Q9BUK6,Q7LGA3,O95831,Q9NR77,O00400,Q14739,Q10713,P40939,Q27J81,Q13057,P04062,P42858,O95352,Q8N0X7 20 |
| Eyelid coloboma 0.2840366972477109 0.0329992998195737 0.9736751460015944 1.0 1.0 9 Q15427,Q13428,Q9H2P0,Q9H9Y6,Q6NUK1,P55265,O15160,Q9Y3Z3 8 |
| Interictal eeg abnormality 0.3632786005431103 0.0308107272977795 0.9754204853361412 1.0 1.0 64 P11166,P04080,Q9HA77,P13073,Q96N66,O75503,Q14108,O60701,Q05086,O14936,P00367 11 |
| Decreased circulating androgen concentration 0.2485170088217384 0.0289211343754091 0.9769274898768016 1.0 1.0 6 P51809 1 |
| Abnormal morphology of the limbic system 0.2685282732148626 0.0251464311623726 0.9799381651653348 1.0 1.0 7 P67870,Q01105,Q9HA77 3 |
| Hydroureter 0.2742104660416111 0.0221424413451459 0.9823343314673774 1.0 1.0 8 Q7LGA3,O76024 2 |
| Peripheral neuropathy 0.3230112085876545 0.0192620762772572 0.9846320370582684 1.0 1.0 142 Q5T440,P07602,O15269,Q8IV08,Q8N2K0,Q5KU26,P54802,Q06787,O75306,O95831,P04066,Q8IWS0,Q9NR77,P10644,Q10713,P40939,P01889,Q27J81,Q13057,P31930,O76024 21 |
| Retinal arteriolar tortuosity 0.2596259625962571 0.0183416962563834 0.9853662642509464 1.0 1.0 7 P53992,P78347,P35250,P21964,Q15056,Q9UIG0 6 |
| Joint dislocation 0.3710142430698217 0.0181784261939096 0.9854965131966384 1.0 1.0 74 O75844,Q9UBM7,P10644,Q96L58,Q9Y619,Q15125,Q13363 7 |
| Abnormal eyelid physiology 0.2585258525852563 0.0175650928176458 0.9859858042745436 1.0 1.0 7 Q13428,Q9H9Y6,Q9NQZ5,P04350,O15160,P49588 6 |
| Cutis marmorata 0.2934572294082572 0.0146333385513693 0.9883247017792284 1.0 1.0 16 Q9UBM7 1 |
| Focal non motor seizure 0.2493582691602467 0.0116160233459262 0.9907319627406266 1.0 1.0 7 Q14204,P67870,Q96JM3,Q01105,Q05639,O43175 6 |
| Focal emotional seizure 0.2493582691602467 0.0116160233459262 0.9907319627406266 1.0 1.0 7 Q14204,P67870,Q96JM3,Q01105,Q05639,O43175 6 |
| Aplasia hypoplasia of the eyelid 0.2843497428361525 0.0104479406599857 0.99166390111617 1.0 1.0 12 P63241,Q15427,Q13428,Q9H2P0,Q9H9Y6,Q6NUK1,P55265,O75312,O15160,Q9Y3Z3,O43175 11 |
| Abnormal mitochondrial morphology 0.2777645353687833 0.0085263035795965 0.993197076439544 1.0 1.0 11 Q13501 1 |
| Cerebellar hypoplasia 0.3737835635636622 0.0082768195281328 0.9933961288865518 1.0 1.0 104 O95453,Q9UBM7,P36507,O43924,Q9HA77,Q16625,P62140,Q10713,P27635,O43505,Q9Y487,Q15125,Q9BUK6,P23786,O14936 15 |
| Cortical dysplasia 0.2880192555585562 0.0075468275671194 0.9939785599593328 1.0 1.0 24 O43505 1 |
| Impaired t cell function 0.2597212032281734 0.0075359406773742 0.9939872461935682 1.0 1.0 8 P53992,P54819,Q9Y2V7,P17812,P00491,P21964,P11172 7 |
| Cns hypomyelination 0.3060784236908012 0.0072255003059518 0.9942349350254608 1.0 1.0 35 P07686,O00400,Q99720,Q9NR50,P49770 5 |
| Constipation 0.3693198599500543 0.0039756144057745 0.9968279270019678 1.0 1.0 75 P05166,Q9UBM7,Q8NCH0,Q05086,Q10471,Q8TAA9,P04062,Q8N0X7,Q7LGA3,P42892,P37268 11 |
| Striae distensae 0.2554185095023841 0.0037696116767787 0.9969922921661184 1.0 1.0 8 P10644 1 |
| Abnormal circulating sex hormone concentration 0.2920309346014807 0.0018685359937875 0.9985091248467994 1.0 1.0 17 Q13144,Q9NR50,P51809,P49770 4 |
| Flexion contracture of digit 0.3433790256669843 0.0011700355349124 0.9990664469241056 1.0 1.0 54 O75844,P42892 2 |
| Abnormal erythrocyte enzyme level 0.2914144362245355 0.0001259329796325 0.9998995200201208 1.0 1.0 17 P08708,Q07020,P61313,P62857,P46777,P18077,P62899 7 |
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