Spreadsheet: 83172030-fbb0-430c-a4cf-14419a807cd0
Sheet: Sheet1

UniProt | Gene | Position | Wildtype AA | Mutant AA | Wildtype VLXT | Mutant VLXT | Delta VLXT | Disease annotation
P14770 | GP9 | 71 | F | S | 0.1413334284 | 0.966072859 | 0.8247394306 | [NAME] syndrome (BSS) [MIM:231200]
[NAME] | GK | 509 | W | R | 0.0678351282 | 0.8238466339 | 0.7560115057 | GK deficiency (GKD) [MIM:307030]
P08603 | CFH | 1183 | W | R | 0.0189004661 | 0.7673021983 | 0.7484017322 | Hemolytic-uremic syndrome (HUS) [MIM:235400]
Q86VP1 | TAX1BP1 | 457 | Q | R | 0.1178461944 | 0.8407773214 | 0.722931127 | A breast cancer sample
Q9UNE0 | EDAR | 87 | C | R | 0.142231107 | 0.8273655501 | 0.6851344431 | Ectodermal dysplasia anhidrotic (EDA) [MIM:224900]
Q8NBK3 | SUMF1 | 336 | C | R | 0.2342556894 | 0.9036049992 | 0.6693493098 | Multiple sulfatase deficiency (MSD) [MIM:272200]
O75923 | DYSF | 1335 | E | K | 0.0435780139 | 0.6976763878 | 0.6540983739 | Miyoshi myopathy (MM) [MIM:254130]; Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]
P41180 | CASR | 297 | E | K | 0.0909945827 | 0.7349799133 | 0.6439853306 | Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]; Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]
P51787 | KCNQ1 | 392 | W | R | 0.2539454921 | 0.8875031344 | 0.6335576423 | Long QT syndrome type 1 (LQT1) [MIM:192500]
P25054 | APC | 1197 | F | S | 0.0707760816 | 0.6987761087 | 0.6280000271 | Gastric cancer
Q9UBM7 | DHCR7 | 380 | C | R | 0.1885641887 | 0.8151177702 | 0.6265535815 | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
P04839 | CYBB | 505 | L | R | 0.1174767688 | 0.7429376177 | 0.6254608489 | Chronic granulomatous disease X-linked ([NAME]) [MIM:306400]
P40337 | VHL | 114 | G | R | 0.2313054225 | 0.8508046275 | 0.619499205 | [NAME] disease (VHLD) [MIM:193300]
Q07889 | SOS1 | 432 | W | R | 0.0153011887 | 0.6313647656 | 0.6160635769 | Noonan syndrome type 4 (NS4) [MIM:610733]
P00966 | ASS1 | 179 | W | R | 0.2515865941 | 0.8550714293 | 0.6034848352 | Citrullinemia type 1 (CTLN1) [MIM:215700]
Q14353 | GAMT | 20 | W | S | 0.245987884 | 0.8493861548 | 0.6033982708 | Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
P33897 | ABCD1 | 540 | F | S | 0.3939881158 | 0.9912402806 | 0.5972521648 | Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
P08603 | CFH | 1043 | C | R | 0.1298163164 | 0.7263799608 | 0.5965636444 | Hemolytic-uremic syndrome (HUS) [MIM:235400]
P06276 | BCHE | 499 | W | R | 0.0209600816 | 0.6107636304 | 0.5898035488 | Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P35913 | PDE6B | 699 | L | R | 0.0601284909 | 0.6486557015 | 0.5885272106 | Retinitis pigmentosa (RP) [MIM:268000]
P08603 | CFH | 1189 | L | R | 0.0361116229 | 0.6225150811 | 0.5864034582 | Hemolytic-uremic syndrome (HUS) [MIM:235400]
P45381 | ASPA | 195 | M | R | 0.1842956144 | 0.7693199282 | 0.5850243138 | Canavan disease (CAND) [MIM:271900]
Q06187 | BTK | 559 | F | S | 0.1791895047 | 0.7616313159 | 0.5824418112 | X-linked agammaglobulinemia (XLA) [MIM:300755]
P22304 | IDS | 485 | I | R | 0.2186142347 | 0.7994992256 | 0.5808849909 | Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
P40337 | VHL | 115 | H | R | 0.2253887156 | 0.788563407 | 0.5631746914 | [NAME] disease (VHLD) [MIM:193300]
P55017 | SLC12A3 | 738 | L | R | 0.1739336647 | 0.719699581 | 0.5457659163 | [NAME] syndrome (GS) [MIM:263800]
Q16610 | [NAME] | 167 | F | I | 0.2255534655 | 0.7675987757 | 0.5420453102 | Lipoid proteinosis (LiP) [MIM:247100]
P06865 | HEXA | 482 | E | K | 0.2313003853 | 0.7712400367 | 0.5399396514 | GM2-gangliosidosis type 1 (GM2G1) [MIM:272800]
P07225 | PROS1 | 364 | K | E | 0.072828869 | 0.6114064994 | 0.5385776304 | Protein S deficiency (PROS1D) [MIM:612336]
P11532 | DMD | 2921 | H | R | 0.2838392016 | 0.8159880491 | 0.5321488475 | Becker muscular dystrophy (BMD) [MIM:300376]
Q96K58 | ZNF668 | 331 | T | R | 0.3494394354 | 0.8800354106 | 0.5305959752 | A breast cancer sample
Q96EY8 | MMAB | 193 | E | K | 0.2915139009 | 0.8179683484 | 0.5264544475 | Methylmalonic aciduria type cblB (MMAB) [MIM:251110]
O15305 | PMM2 | 117 | G | R | 0.1725694888 | 0.6969116175 | 0.5243421287 | Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
Q9GZX3 | CHST6 | 274 | E | K | 0.2134379136 | 0.7353670633 | 0.5219291497 | Macular corneal dystrophy (MCD) [MIM:217800]
P40337 | VHL | 111 | S | R | 0.2607187054 | 0.7774917243 | 0.5167730189 | [NAME] disease (VHLD) [MIM:193300]
Q13402 | MYO7A | 214 | G | R | 0.2164052806 | 0.7315488462 | 0.5151435656 | Usher syndrome type 1B (USH1B) [MIM:276900]
P38398 | BRCA1 | 465 | Y | D | 0.0348812663 | 0.5448998455 | 0.5100185792 | Breast cancer (BC) [MIM:113705, 114480]
P51587 | BRCA2 | 2793 | G | R | 0.0649874236 | 0.5731270024 | 0.5081395788 | Breast cancer (BC) [MIM:612555, 114480]
P09668 | CTSH | 126 | G | R | 0.1223997884 | 0.6301561052 | 0.5077563168 | A colorectal cancer sample
Q86TH1 | ADAMTSL2 | 811 | G | R | 0.3949577553 | 0.8970116496 | 0.5020538943 | Geleophysic dysplasia [MIM:231050]
P18074 | ERCC2 | 663 | C | R | 0.1283989841 | 0.6298548711 | 0.501455887 | Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
P51587 | BRCA2 | 53 | K | R | 0.2820873697 | 0.780755802 | 0.4986684323 | Breast cancer (BC) [MIM:612555, 114480]
Q6ZVN8 | HFE2 | 80 | C | R | 0.3113925425 | 0.8064926311 | 0.4951000886 | Hemochromatosis type 2A (HFE2A) [MIM:602390]
P04181 | OAT | 394 | C | R | 0.4625853599 | 0.9571625893 | 0.4945772294 | Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]
P07902 | GALT | 167 | W | R | 0.0256616091 | 0.5192670887 | 0.4936054796 | Galactosemia [MIM:230400]
P08842 | STS | 372 | W | R | 0.2389357253 | 0.7288946173 | 0.489958892 | Ichthyosis X-linked (IXL) [MIM:308100]
Q9UBP0 | SPAST | 381 | F | C | 0.0644962926 | 0.5528343936 | 0.488338101 | Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
Q92947 | GCDH | 375 | C | R | 0.4124535535 | 0.8998190912 | 0.4873655377 | Glutaric aciduria type 1 (GA1) [MIM:231670]
O15537 | RS1 | 223 | C | R | 0.1712486501 | 0.6585000938 | 0.4872514437 | X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]
P02766 | TTR | 30 | C | R | 0.2604548689 | 0.7424585948 | 0.4820037259 | Amyloidosis type 1 (AMYL1) [MIM:176300]
P05062 | ALDOB | 135 | C | R | 0.2234709523 | 0.7018334823 | 0.47836253 | Hereditary fructose intolerance (HFI) [MIM:229600]
P51687 | SUOX | 450 | W | R | 0.1630933494 | 0.6372243163 | 0.4741309669 | Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]
P00966 | ASS1 | 347 | G | R | 0.1780416899 | 0.650170425 | 0.4721287351 | Citrullinemia type 1 (CTLN1) [MIM:215700]
P26367 | PAX6 | 422 | Q | R | 0.3406508687 | 0.8113100212 | 0.4706591525 | Aniridia type II (AN2) [MIM:106210]
P10253 | GAA | 330 | W | G | 0.1774127916 | 0.6417398457 | 0.4643270541 | Glycogen storage disease type 2 (GSD2) [MIM:232300]
P07902 | GALT | 117 | F | S | 0.3060325535 | 0.7692913229 | 0.4632587694 | Galactosemia [MIM:230400]
P19544 | WT1 | 405 | H | R | 0.3940369988 | 0.8548184136 | 0.4607814148 | Denys-Drash syndrome (DDS) [MIM:194080]
P29965 | CD40LG | 237 | V | E | 0.2046464446 | 0.6639419797 | 0.4592955351 | X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
P98161 | [NAME] | 2921 | H | P | 0.1533958048 | 0.609525499 | 0.4561296942 | Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
Q14896 | MYBPC3 | 810 | K | R | 0.445176855 | 0.897005642 | 0.451828787 | Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]
[NAME] | OTC | 83 | G | R | 0.1907209394 | 0.6413654136 | 0.4506444742 | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
O95970 | LGI1 | 46 | C | R | 0.1228924265 | 0.5731065734 | 0.4502141469 | Lateral temporal lobe epilepsy autosomal dominant (ADLTE) [MIM:600512]
Q8NF91 | SYNE1 | 5507 | L | R | 0.4387195591 | 0.8876403087 | 0.4489207496 | A colorectal cancer sample
[NAME] | [NAME] | 53 | W | R | 0.1149888657 | 0.5602466238 | 0.4452577581 | [NAME] syndrome (TCS) [MIM:154500]
Q02643 | GHRHR | 242 | F | C | 0.0630232035 | 0.5076874954 | 0.4446642919 | Isolated growth hormone deficiency type IB (IGHD IB) [MIM:262400]
Q14896 | MYBPC3 | 506 | G | R | 0.2837011853 | 0.7220909156 | 0.4383897303 | Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]
P05166 | PCCB | 106 | S | R | 0.3543023107 | 0.7923190627 | 0.438016752 | Propionic acidemia type II (PA-2) [MIM:606054]
Q13496 | MTM1 | 499 | W | R | 0.3013093505 | 0.7370800466 | 0.4357706961 | X-linked centronuclear myopathy X-linked ([NAME]) [MIM:310400]
O96017 | CHEK2 | 239 | E | K | 0.1083539119 | 0.5434613011 | 0.4351073892 | Prostate cancer
[NAME] | OTC | 267 | S | R | 0.3329938701 | 0.7650247377 | 0.4320308676 | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P30518 | AVPR2 | 112 | C | R | 0.3280675387 | 0.7549521886 | 0.4268846499 | Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
P22304 | IDS | 102 | L | R | 0.3505743707 | 0.7770226587 | 0.426448288 | Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
Q9H9P8 | L2HGDH | 81 | K | E | 0.2933734334 | 0.719406849 | 0.4260334156 | L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]
O00255 | MEN1 | 230 | G | R | 0.3711406941 | 0.7885106079 | 0.4173699138 | Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
P08603 | CFH | 431 | C | S | 0.2133519534 | 0.6307134978 | 0.4173615444 | Complement factor H deficiency (CFH deficiency) [MIM:609814]
P08842 | STS | 380 | G | R | 0.2392162915 | 0.6556583017 | 0.4164420102 | Ichthyosis X-linked (IXL) [MIM:308100]
P07225 | PROS1 | 515 | R | P | 0.339650564 | 0.7559654517 | 0.4163148877 | Protein S deficiency (PROS1D) [MIM:612336]
P11217 | PYGM | 798 | W | R | 0.4812812471 | 0.897246867 | 0.4159656199 | Glycogen storage disease type 5 (GSD5) [MIM:232600]
P16930 | FAH | 193 | C | R | 0.096162363 | 0.5069322583 | 0.4107698953 | Tyrosinemia type 1 (TYRO1) [MIM:276700]
P02751 | FN1 | 1834 | W | R | 0.1540542191 | 0.5646604931 | 0.410606274 | Glomerulopathy with fibronectin deposits type 2 (GFND2) [MIM:601894]
P04062 | GBA | 500 | L | P | 0.3111302514 | 0.7212597293 | 0.4101294779 | Gaucher disease (GD) [MIM:230800]
P48436 | SOX9 | 143 | W | R | 0.4544395851 | 0.8634618632 | 0.4090222781 | Campomelic dysplasia (CMD1) [MIM:114290]
P52952 | NKX2-5 | 118 | K | R | 0.3650901074 | 0.7722950793 | 0.4072049719 | Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]
Q9BZI7 | [NAME] | 160 | Y | D | 0.1214182243 | 0.5275258662 | 0.4061076419 | X-linked syndromic mental retardation type 14 (MRXS14) [MIM:300676]
P19544 | WT1 | 342 | M | R | 0.1009462479 | 0.5057583506 | 0.4048121027 | Denys-Drash syndrome (DDS) [MIM:194080]
P05186 | ALPL | 489 | C | S | 0.1564086531 | 0.5606127589 | 0.4042041058 | Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]; Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]; Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
P06858 | LPL | 448 | E | K | 0.2129514586 | 0.6165784045 | 0.4036269459 | [NAME] lipase deficiency (LPL deficiency) [MIM:238600]
P43246 | MSH2 | 923 | V | E | 0.1274449572 | 0.5307441441 | 0.4032991869 | Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
Q8WZ42 | TTN | 23952 | F | L | 0.2578984373 | 0.6604100545 | 0.4025116172 | A gastric adenocarcinoma sample
P08514 | ITGA2B | 320 | F | S | 0.2001778761 | 0.6018491478 | 0.4016712717 | Glanzmann thrombasthenia (GT) [MIM:273800]
Q15526 | SURF1 | 124 | G | R | 0.2477951191 | 0.6491194365 | 0.4013243174 | Leigh syndrome (LS) [MIM:256000]
P55017 | SLC12A3 | 741 | G | R | 0.1439539698 | 0.5400218389 | 0.3960678691 | [NAME] syndrome (GS) [MIM:263800]
Q8TCZ9 | PKHD1 | 3346 | C | R | 0.2149233013 | 0.6106889535 | 0.3957656522 | Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
O75462 | CRLF1 | 76 | W | G | 0.4013162047 | 0.7952720021 | 0.3939557974 | Crisponi syndrome [MIM:601378]
P35222 | CTNNB1 | 32 | D | G | 0.4078915071 | 0.7991185626 | 0.3912270555 | Pilomatrixoma (PTR) [MIM:132600]
P22304 | IDS | 485 | I | K | 0.2186142347 | 0.6072098774 | 0.3885956427 | Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
P08397 | HMBS | 34 | Q | R | 0.3981099645 | 0.785572316 | 0.3874623515 | Acute intermittent porphyria (AIP) [MIM:176000]
P06280 | GLA | 113 | F | S | 0.1434104089 | 0.5278797376 | 0.3844693287 | Fabry disease (FD) [MIM:301500]
Q76LX8 | ADAMTS13 | 1024 | C | G | 0.3827385929 | 0.7663162554 | 0.3835776625 | Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
P54802 | NAGLU | 48 | F | L | 0.3745913483 | 0.7570481138 | 0.3824567655 | Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
P08397 | HMBS | 85 | L | R | 0.190222511 | 0.5715727845 | 0.3813502735 | Acute intermittent porphyria (AIP) [MIM:176000]
Q8TAB3 | PCDH19 | 441 | V | E | 0.2753352308 | 0.6552253099 | 0.3798900791 | Epilepsy, female-restricted, with mental retardation (EFMR) [MIM:300088]
P54098 | POLG | 1051 | G | R | 0.2910985768 | 0.6696686653 | 0.3785700885 | Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
P58335 | ANTXR2 | 218 | C | R | 0.1696351112 | 0.5474913428 | 0.3778562316 | Infantile systemic hyalinosis (ISH) [MIM:236490]
O60832 | DKC1 | 402 | G | R | 0.3782252317 | 0.7546647598 | 0.3764395281 | Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
P04062 | GBA | 483 | L | P | 0.270382797 | 0.6449237541 | 0.3745409571 | Gaucher disease (GD) [MIM:230800]
P43246 | MSH2 | 629 | Q | R | 0.4160230234 | 0.7901643408 | 0.3741413174 | Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
P15289 | ARSA | 429 | Y | S | 0.4194574009 | 0.7921606202 | 0.3727032193 | Leukodystrophy metachromatic (MLD) [MIM:250100]
P08603 | CFH | 1199 | F | S | 0.3179772064 | 0.6881476749 | 0.3701704685 | Hemolytic-uremic syndrome (HUS) [MIM:235400]
P07225 | PROS1 | 383 | W | R | 0.3440140884 | 0.7133309569 | 0.3693168685 | Protein S deficiency (PROS1D) [MIM:612336]
Q05066 | SRY | 95 | G | R | 0.1695681447 | 0.537565376 | 0.3679972313 | Gonadal dysgenesis XY female type (GDXY) [MIM:306100]
P35222 | CTNNB1 | 32 | D | A | 0.4078915071 | 0.7758510449 | 0.3679595378 | Hepatocellular carcinoma
Q14353 | GAMT | 51 | H | P | 0.2889921629 | 0.6555999542 | 0.3666077913 | Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
P04180 | LCAT | 180 | Y | N | 0.258473188 | 0.6225887532 | 0.3641155652 | Lecithin-cholesterol acyltransferase deficiency (LCATD) [MIM:245900]
P00846 | MT-ATP6 | 156 | L | P | 0.1901548636 | 0.5530662625 | 0.3629113989 | Leigh syndrome (LS) [MIM:256000]
Q9H4A3 | [NAME] | 2362 | F | L | 0.2614199937 | 0.6234028809 | 0.3619828872 | A lung adenocarcinoma sample
P07225 | PROS1 | 666 | C | R | 0.3809036424 | 0.7425419007 | 0.3616382583 | Protein S deficiency (PROS1D) [MIM:612336]
P05106 | ITGB3 | 306 | H | P | 0.4814337155 | 0.8422132968 | 0.3607795813 | Glanzmann thrombasthenia (GT) [MIM:273800]
P12271 | [NAME] | 226 | M | K | 0.2890866988 | 0.6498646226 | 0.3607779238 | Fundus albipunctatus (FA) [MIM:136880]
O76090 | [NAME] | 298 | F | S | 0.2936449454 | 0.6542396814 | 0.360594736 | Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
Q03692 | COL10A1 | 651 | W | R | 0.3553986476 | 0.7155565111 | 0.3601578635 | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
O76024 | WFS1 | 110 | Y | N | 0.2513394679 | 0.6101971763 | 0.3588577084 | Wolfram syndrome (WFS) [MIM:222300]
P06858 | LPL | 289 | Y | H | 0.2909887768 | 0.6488760411 | 0.3578872643 | [NAME] lipase deficiency (LPL deficiency) [MIM:238600]
P98194 | ATP2C1 | 318 | L | P | 0.227315746 | 0.5842389584 | 0.3569232124 | Hailey-Hailey disease (HHD) [MIM:169600]
P54803 | GALC | 514 | F | S | 0.1677949942 | 0.5241653765 | 0.3563703823 | Leukodystrophy globoid cell (GLD) [MIM:245200]
P43146 | DCC | 1039 | F | S | 0.3179170967 | 0.6737289291 | 0.3558118324 | A colorectal cancer sample
P20823 | HNF1A | 107 | L | R | 0.3899861764 | 0.7457936895 | 0.3558075131 | Maturity onset diabetes of the young type 3 ([NAME]) [MIM:600496]
O60832 | DKC1 | 39 | K | E | 0.1919134902 | 0.5461342902 | 0.3542208 | Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
O43602 | DCX | 206 | Y | D | 0.2360164393 | 0.5894091546 | 0.3533927153 | Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
O15118 | NPC1 | 899 | Y | D | 0.1669661372 | 0.5200967751 | 0.3531306379 | Niemann-Pick disease type C1 (NPC1) [MIM:257220]
P15848 | ARSB | 399 | F | L | 0.2321995215 | 0.5834003306 | 0.3512008091 | Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
P40337 | VHL | 136 | F | S | 0.1502969447 | 0.5014341143 | 0.3511371696 | [NAME] disease (VHLD) [MIM:193300]
P08397 | HMBS | 34 | Q | K | 0.3981099645 | 0.7489612971 | 0.3508513326 | Acute intermittent porphyria (AIP) [MIM:176000]
Q14117 | DPYS | 360 | W | R | 0.4804690232 | 0.8311489055 | 0.3506798823 | DHP deficiency [MIM:222748]
P10721 | KIT | 656 | L | P | 0.1552462341 | 0.5040068783 | 0.3487606442 | Piebaldism [MIM:172800]
P22033 | MUT | 566 | T | R | 0.3232226723 | 0.6708720091 | 0.3476493368 | Methylmalonic aciduria type mut (MMAM) [MIM:251000]
Q9HCE0 | KIAA1632 | 1865 | C | Y | 0.1911079164 | 0.5366520965 | 0.3455441801 | A breast cancer sample
P40337 | VHL | 162 | C | R | 0.2041908535 | 0.5491107013 | 0.3449198478 | [NAME] disease (VHLD) [MIM:193300]
Q14896 | MYBPC3 | 489 | G | R | 0.409175566 | 0.7532550951 | 0.3440795291 | Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]
P21359 | NF1 | 777 | W | S | 0.2730958313 | 0.6171446831 | 0.3440488518 | Type 1 neurofibromatosis (NF1) [MIM:162200]
Q9GZX3 | CHST6 | 200 | L | R | 0.3963286805 | 0.7399699817 | 0.3436413012 | Macular corneal dystrophy (MCD) [MIM:217800]
P35557 | GCK | 382 | C | Y | 0.1805943503 | 0.5236043255 | 0.3430099752 | Maturity onset diabetes of the young type 2 (MODY2) [MIM:125851]
P52952 | NKX2-5 | 51 | F | L | 0.341096639 | 0.683972141 | 0.342875502 | Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]
O00754 | MAN2B1 | 714 | W | R | 0.2329326083 | 0.5750741616 | 0.3421415533 | Lysosomal alpha-mannosidosis (AM) [MIM:248500]
P30566 | ADSL | 395 | S | R | 0.3554922703 | 0.6959702171 | 0.3404779468 | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
Q05209 | PTPN12 | 61 | K | R | 0.2916644823 | 0.6313331731 | 0.3396686908 | Colon cancer
Q14896 | MYBPC3 | 565 | C | R | 0.3007826266 | 0.6397563837 | 0.3389737571 | Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]
P11310 | ACADM | 67 | Y | H | 0.3487350037 | 0.6869063733 | 0.3381713696 | Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
Q9Y4U1 | MMACHC | 116 | L | P | 0.4357959871 | 0.7738849317 | 0.3380889446 | Methylmalonic aciduria and [NAME] (MMACHC) [MIM:277400]
O00255 | MEN1 | 188 | W | S | 0.2491974505 | 0.5871352017 | 0.3379377512 | Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
P10636 | MAPT | 596 | N | K | 0.3268584045 | 0.6614303465 | 0.334571942 | Pallido-ponto-nigral degeneration (PPND) [MIM:168610]
P17813 | ENG | 53 | C | R | 0.3683144221 | 0.70244338 | 0.3341289579 | Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]
P30793 | GCH1 | 88 | R | P | 0.4431137724 | 0.77644789 | 0.3333341176 | Dystonia type 5 (DYT5) [MIM:128230]
P07949 | RET | 620 | C | R | 0.3818732351 | 0.713467882 | 0.3315946469 | Hirschsprung disease (HSCR) [MIM:142623]; Medullary thyroid carcinoma (MTC) [MIM:155240]; Multiple neoplasia type 2A (MEN2A) [MIM:171400]
O75923 | DYSF | 1361 | C | R | 0.2996951122 | 0.6300193093 | 0.3303241971 | Miyoshi myopathy (MM) [MIM:254130]
P33897 | ABCD1 | 229 | L | P | 0.3987429503 | 0.7284349826 | 0.3296920323 | Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
Q00604 | NDP | 96 | C | W | 0.2026869022 | 0.5319641289 | 0.3292772267 | Norrie disease (ND) [MIM:310600]
Q9NQW8 | CNGB3 | 199 | E | K | 0.2635419692 | 0.5917245407 | 0.3281825715 | Achromatopsia type 3 (ACHM3) [MIM:262300]
P04062 | GBA | 209 | R | P | 0.390478458 | 0.7184258367 | 0.3279473787 | Gaucher disease (GD) [MIM:230800]
Q8WZ04 | LRTOMT | 16 | L | P | 0.4268567158 | 0.7529832506 | 0.3261265348 | Non-syndromic sensorineural deafness autosomal recessive type 63 (DFNB63) [MIM:611451]
[NAME] | TP63 | 233 | K | E | 0.3673188253 | 0.6926155975 | 0.3252967722 | Split-hand/foot malformation 4 (SHFM4) [MIM:605289]
P35520 | CBS | 456 | L | P | 0.3800475948 | 0.7031739017 | 0.3231263069 | Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P21549 | AGXT | 116 | G | R | 0.2333407936 | 0.5564383843 | 0.3230975907 | Primary hyperoxaluria type I (PH1) [MIM:259900]
P38571 | LIPA | 129 | H | R | 0.397994986 | 0.7206925533 | 0.3226975673 | Cholesteryl ester storage disease (CESD) [MIM:278000]
O14773 | TPP1 | 389 | G | E | 0.2311883573 | 0.5530617044 | 0.3218733471 | Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) [MIM:204500]
P30518 | AVPR2 | 62 | L | P | 0.2714937047 | 0.5927909397 | 0.321297235 | Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
P38398 | BRCA1 | 856 | Y | H | 0.3198190716 | 0.6370113684 | 0.3171922968 | A patient with sporadic breast cancer
P55075 | FGF8 | 40 | F | L | 0.3253270672 | 0.6416998889 | 0.3163728217 | Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
Q8IWS0 | [NAME] | 229 | H | R | 0.299523022 | 0.6149750173 | 0.3154519953 | Boerjeson-Forssman-Lehmann syndrome (BFLS) [MIM:301900]
P51688 | SGSH | 447 | E | K | 0.1867547929 | 0.501507648 | 0.3147528551 | Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
P07949 | RET | 618 | C | R | 0.2712047035 | 0.585926984 | 0.3147222805 | Hirschsprung disease (HSCR) [MIM:142623]; Medullary thyroid carcinoma (MTC) [MIM:155240]; Multiple neoplasia type 2A (MEN2A) [MIM:171400]
O14896 | IRF6 | 388 | K | E | 0.3123026913 | 0.625101189 | 0.3127984977 | Van der [NAME] syndrome (VWS) [MIM:119300]
P25445 | FAS | 82 | C | R | 0.3628202774 | 0.6738712527 | 0.3110509753 | Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
[NAME] | OTC | 265 | W | L | 0.3522676994 | 0.6630126991 | 0.3107449997 | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
Q04656 | ATP7A | 853 | G | R | 0.2385510549 | 0.5478500999 | 0.309299045 | Menkes disease (MNKD) [MIM:309400]
P35968 | KDR | 873 | G | R | 0.4028090706 | 0.7110055318 | 0.3081964612 | A colorectal cancer sample
Q9Y303 | AMDHD2 | 294 | D | N | 0.1998934231 | 0.5067452088 | 0.3068517857 | A colorectal cancer sample
Q14896 | MYBPC3 | 791 | W | R | 0.474348433 | 0.7807766786 | 0.3064282456 | Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]
[NAME] | OTC | 87 | E | K | 0.3983277643 | 0.7038960801 | 0.3055683158 | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P15289 | ARSA | 247 | F | S | 0.3253946221 | 0.627453505 | 0.3020588829 | Leukodystrophy metachromatic (MLD) [MIM:250100]
Q9UNS1 | TIMELESS | 1008 | Q | E | 0.3351009657 | 0.6353737417 | 0.300272776 | A breast cancer sample
Q92834 | RPGR | 250 | C | R | 0.4042154729 | 0.7041632798 | 0.2999478069 | Retinitis pigmentosa type 3 (RP3) [MIM:300389]
Q99519 | NEU1 | 363 | L | P | 0.2446547804 | 0.5444472883 | 0.2997925079 | Sialidosis [MIM:256550]
P55157 | MTTP | 746 | G | E | 0.3544520897 | 0.654002517 | 0.2995504273 | Abetalipoproteinemia (ABL) [MIM:200100]
Q6PI48 | DARS2 | 184 | Q | K | 0.2024253989 | 0.500199367 | 0.2977739681 | [NAME] with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
P17813 | ENG | 221 | L | P | 0.2325598707 | 0.5300711946 | 0.2975113239 | Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]
P35556 | FBN2 | 1268 | C | R | 0.3910974255 | 0.6879278303 | 0.2968304048 | Congenital contractural arachnodactyly (CCA) [MIM:121050]
P35520 | CBS | 454 | V | E | 0.4344774076 | 0.7296627431 | 0.2951853355 | Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P15924 | DSP | 1255 | R | K | 0.4977246178 | 0.7926725576 | 0.2949479398 | Familial arrhythmogenic right ventricular dysplasia 8 (ARVD8) [MIM:607450]
P03971 | AMH | 525 | C | Y | 0.2325829426 | 0.5264290708 | 0.2938461282 | Persistent Muellerian duct syndrome type 1 (PMDS-1) [MIM:261550]
[NAME] | TP63 | 232 | K | E | 0.4496730852 | 0.7427334361 | 0.2930603509 | Split-hand/foot malformation 4 (SHFM4) [MIM:605289]
O00255 | MEN1 | 189 | V | E | 0.2599249137 | 0.5525008513 | 0.2925759376 | Familial isolated hyperparathyroidism (FIHP) [MIM:145000]
P07902 | GALT | 74 | L | P | 0.4262902762 | 0.7182828002 | 0.291992524 | Galactosemia [MIM:230400]
Q93099 | HGD | 97 | W | G | 0.4470637155 | 0.7383359186 | 0.2912722031 | Alkaptonuria (AKU) [MIM:203500]
P03950 | ANG | 138 | H | R | 0.2430050022 | 0.5339622926 | 0.2909572904 | Amyotrophic lateral sclerosis type 9 (ALS9) [MIM:611895]
Q06187 | BTK | 334 | Y | S | 0.3498316609 | 0.640743372 | 0.2909117111 | X-linked agammaglobulinemia (XLA) [MIM:300755]
P14679 | TYR | 55 | C | Y | 0.4608001953 | 0.7498503054 | 0.2890501101 | Oculocutaneous albinism type IA (OCA-IA) [MIM:203100]
P16157 | ANK1 | 276 | L | R | 0.4255175959 | 0.7136382118 | 0.2881206159 | Spherocytosis type 1 (SPH1) [MIM:182900]
Q13237 | PRKG2 | 716 | W | R | 0.2525775857 | 0.5368248368 | 0.2842472511 | A colorectal adenocarcinoma sample
P22033 | MUT | 627 | H | R | 0.3066863399 | 0.5904424862 | 0.2837561463 | Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P08514 | ITGA2B | 355 | E | K | 0.3254424813 | 0.6086880228 | 0.2832455415 | Glanzmann thrombasthenia (GT) [MIM:273800]
O60313 | OPA1 | 300 | G | E | 0.4346746293 | 0.71734757 | 0.2826729407 | Optic atrophy type 1 (OPA1) [MIM:165500]
[NAME] | JAG1 | 92 | C | Y | 0.4285331402 | 0.7110839922 | 0.282550852 | Alagille syndrome type 1 (ALGS1) [MIM:118450]
P12694 | BCKDHA | 438 | Y | N | 0.4452349582 | 0.7265744034 | 0.2813394452 | Maple syrup urine disease type IA (MSUD1A) [MIM:248600]
P11277 | SPTB | 2024 | W | R | 0.2351604794 | 0.5161720608 | 0.2810115814 | Elliptocytosis type 3 (EL3) [MIM:182870]
Q8TCZ9 | PKHD1 | 1917 | Q | R | 0.2753615603 | 0.5561879927 | 0.2808264324 | Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
P21359 | NF1 | 1035 | M | R | 0.2253885129 | 0.5030143574 | 0.2776258445 | Type 1 neurofibromatosis (NF1) [MIM:162200]
P07949 | RET | 620 | C | S | 0.3818732351 | 0.6594882986 | 0.2776150635 | Medullary thyroid carcinoma (MTC) [MIM:155240]; Multiple neoplasia type 2A (MEN2A) [MIM:171400]
P22033 | MUT | 197 | A | E | 0.3560339139 | 0.6333322343 | 0.2772983204 | Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P51587 | BRCA2 | 31 | W | R | 0.4972132888 | 0.7736801834 | 0.2764668946 | Breast cancer (BC) [MIM:612555, 114480]
P15289 | ARSA | 294 | C | Y | 0.2826605513 | 0.5583577103 | 0.275697159 | Leukodystrophy metachromatic (MLD) [MIM:250100]
P17661 | DES | 355 | R | P | 0.4594456134 | 0.7349864958 | 0.2755408824 | [NAME]-related cardio-skeletal myopathy (CSM) [MIM:601419]
P98161 | [NAME] | 2761 | R | P | 0.4428844186 | 0.7180691661 | 0.2751847475 | Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
P55075 | FGF8 | 89 | K | E | 0.3915872579 | 0.6656709963 | 0.2740837384 | Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
P51648 | ALDH3A2 | 279 | Y | N | 0.3475315555 | 0.6205686434 | 0.2730370879 | Sjoegren-Larsson syndrome (SLS) [MIM:270200]
P00966 | ASS1 | 190 | Y | D | 0.4968614136 | 0.7696002486 | 0.272738835 | Citrullinemia type 1 (CTLN1) [MIM:215700]
[NAME] | MYO18B | 347 | K | N | 0.3099050459 | 0.5826236509 | 0.272718605 | Lung small cell carcinoma
Q6KC79 | NIPBL | 1312 | L | P | 0.3569470839 | 0.6289422569 | 0.271995173 | Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
P01008 | SERPINC1 | 219 | N | D | 0.3076213961 | 0.5792127237 | 0.2715913276 | [NAME] deficiency (AT3D) [MIM:107300]
P17813 | ENG | 149 | W | C | 0.426390651 | 0.6979628249 | 0.2715721739 | Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]
[NAME] | RRP9 | 342 | A | E | 0.3028388669 | 0.5725980228 | 0.2697591559 | A breast cancer sample
P02766 | TTR | 32 | L | P | 0.2911399431 | 0.5608389173 | 0.2696989742 | Amyloidosis type 1 (AMYL1) [MIM:176300]
P34059 | GALNS | 36 | L | P | 0.2374892522 | 0.505610566 | 0.2681213138 | Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
Q6KC79 | NIPBL | 1311 | C | R | 0.3048478663 | 0.5717322789 | 0.2668844126 | Cornelia de Lange syndrome type 1 (CDLS1) [MIM:122470]
P05062 | ALDOB | 178 | C | R | 0.4131404239 | 0.6793140377 | 0.2661736138 | Hereditary fructose intolerance (HFI) [MIM:229600]
[NAME] | JAG1 | 92 | C | R | 0.4285331402 | 0.6924295948 | 0.2638964546 | Alagille syndrome type 1 (ALGS1) [MIM:118450]
P00441 | SOD1 | 147 | C | R | 0.3176896189 | 0.580971184 | 0.2632815651 | Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
Q04656 | ATP7A | 1006 | L | P | 0.3196485412 | 0.582724067 | 0.2630755258 | Menkes disease (MNKD) [MIM:309400]
P08842 | STS | 372 | W | S | 0.2389357253 | 0.5013974435 | 0.2624617182 | Ichthyosis X-linked (IXL) [MIM:308100]
P21817 | RYR1 | 4684 | F | S | 0.3360979494 | 0.5977964568 | 0.2616985074 | Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
O75445 | USH2A | 3267 | C | R | 0.3510327009 | 0.6117225854 | 0.2606898845 | Usher syndrome type 2A (USH2A) [MIM:276901]
P01008 | SERPINC1 | 219 | N | K | 0.3076213961 | 0.5674397339 | 0.2598183378 | [NAME] deficiency (AT3D) [MIM:107300]
P00746 | CFD | 214 | C | R | 0.4024715985 | 0.6614508131 | 0.2589792146 | Complement factor D deficiency [MIM:134350]
P22033 | MUT | 685 | L | R | 0.3013442718 | 0.5594053926 | 0.2580611208 | Methylmalonic aciduria type mut (MMAM) [MIM:251000]
O95255 | ABCC6 | 673 | L | P | 0.288423637 | 0.5464057512 | 0.2579821142 | Pseudoxanthoma elasticum (PXE) [MIM:264800]
P00813 | ADA | 107 | L | P | 0.2540943426 | 0.5106088799 | 0.2565145373 | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P49748 | [NAME] | 290 | G | D | 0.2483578972 | 0.5041336923 | 0.2557757951 | Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
P22304 | IDS | 480 | P | R | 0.3793409988 | 0.6320609683 | 0.2527199695 | Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
P22033 | MUT | 573 | F | S | 0.3113129925 | 0.564019329 | 0.2527063365 | Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P29965 | CD40LG | 116 | G | R | 0.4086333747 | 0.6608017537 | 0.252168379 | X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]
P17661 | DES | 350 | R | P | 0.4406294433 | 0.692227471 | 0.2515980277 | Neurogenic scapuloperoneal syndrome [NAME] type ([NAME] syndrome) [MIM:181400]; [NAME]-related cardio-skeletal myopathy (CSM) [MIM:601419]
O76090 | [NAME] | 299 | G | E | 0.3072883219 | 0.5573001911 | 0.2500118692 | Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
P07949 | RET | 620 | C | G | 0.3818732351 | 0.6286694335 | 0.2467961984 | Medullary thyroid carcinoma (MTC) [MIM:155240]; Multiple neoplasia type 2A (MEN2A) [MIM:171400]
P16435 | POR | 489 | V | E | 0.492310974 | 0.7387414836 | 0.2464305096 | Adrenal hyperplasia variant type (AHV) [MIM:201750]
P05186 | ALPL | 28 | Y | C | 0.3953171421 | 0.6416531297 | 0.2463359876 | Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]; Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]; Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
P42768 | WAS | 476 | K | E | 0.4302532088 | 0.6744566162 | 0.2442034074 | [NAME] syndrome (WAS) [MIM:301000]
Q15582 | TGFBI | 540 | F | S | 0.4039600461 | 0.6469313677 | 0.2429713216 | Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]
O15305 | PMM2 | 223 | D | E | 0.491238293 | 0.7336067895 | 0.2423684965 | Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
O76090 | [NAME] | 113 | F | L | 0.3953340614 | 0.6374377534 | 0.242103692 | Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
P22033 | MUT | 203 | G | R | 0.394151404 | 0.6352490954 | 0.2410976914 | Methylmalonic aciduria type mut (MMAM) [MIM:251000]
Q14896 | MYBPC3 | 667 | R | P | 0.3675403907 | 0.607935939 | 0.2403955483 | Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]
P30613 | PKLR | 374 | L | P | 0.4414809504 | 0.6816893722 | 0.2402084218 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P21359 | NF1 | 920 | L | P | 0.2818311271 | 0.5215975153 | 0.2397663882 | Type 1 neurofibromatosis (NF1) [MIM:162200]
Q6VVB1 | NHLRC1 | 33 | F | S | 0.4964614014 | 0.7355066481 | 0.2390452467 | Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
P25942 | CD40 | 26 | C | Q | 0.4199927215 | 0.6590264298 | 0.2390337083 | Bladder carcinoma cell line Hu549
P38935 | IGHMBP2 | 361 | L | P | 0.353063963 | 0.5920936743 | 0.2390297113 | Distal hereditary motor [NAME] 6 (HMN6) [MIM:604320]
Q13144 | EIF2B5 | 339 | R | P | 0.2872689594 | 0.5257394229 | 0.2384704635 | Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q8TE58 | ADAMTS15 | 878 | C | G | 0.4234680029 | 0.6591278246 | 0.2356598217 | A colorectal cancer sample
O75695 | RP2 | 188 | L | P | 0.359434737 | 0.5940619139 | 0.2346271769 | Retinitis pigmentosa type 2 (RP2) [MIM:312600]
Q13702 | RAPSN | 283 | L | P | 0.3074514805 | 0.5420348329 | 0.2345833524 | Congenital myasthenic syndrome type 1d (CMS1D) [MIM:608931]
P14679 | TYR | 318 | V | E | 0.4149791105 | 0.6493202773 | 0.2343411668 | Oculocutaneous albinism type IA (OCA-IA) [MIM:203100]
[NAME] | UROD | 167 | E | K | 0.4755329536 | 0.7096984931 | 0.2341655395 | Familial porphyria cutanea tarda (FPCT) [MIM:176100]; Hepatoerythropoietic porphyria (HEP) [MIM:176100]
Q9UHC1 | MLH3 | 24 | Q | E | 0.4642452909 | 0.6975622406 | 0.2333169497 | Hereditary non-polyposis colorectal cancer type 7 (HNPCC7) [MIM:604395]
P08235 | NR3C2 | 769 | L | P | 0.3047941128 | 0.5379810954 | 0.2331869826 | Autosomal dominant pseudohypoaldosteronism type I (PHA1) [MIM:177735]
P51649 | ALDH5A1 | 268 | G | E | 0.3715614267 | 0.6044404731 | 0.2328790464 | Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
P07225 | PROS1 | 111 | R | S | 0.3746109205 | 0.6072310236 | 0.2326201031 | Protein S deficiency (PROS1D) [MIM:612336]
P40692 | MLH1 | 80 | F | V | 0.3299340439 | 0.5620802475 | 0.2321462036 | Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
P08235 | NR3C2 | 645 | C | S | 0.3664011255 | 0.5982795046 | 0.2318783791 | Autosomal dominant pseudohypoaldosteronism type I (PHA1) [MIM:177735]
Q76LX8 | ADAMTS13 | 1213 | C | Y | 0.4550117469 | 0.6844044486 | 0.2293927017 | Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
P54802 | NAGLU | 48 | F | C | 0.3745913483 | 0.6033297533 | 0.228738405 | Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
P11310 | ACADM | 329 | K | E | 0.4905346985 | 0.7190898907 | 0.2285551922 | Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
Q5H9T9 | FSCB | 262 | T | R | 0.4936782371 | 0.7221382399 | 0.2284600028 | A breast cancer sample
Q99972 | MYOC | 208 | D | E | 0.3584336478 | 0.5852126632 | 0.2267790154 | Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
[NAME] | CFTR | 244 | M | K | 0.4023068756 | 0.6290502673 | 0.2267433917 | Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
Q16512 | PKN1 | 873 | F | L | 0.281839385 | 0.5081152492 | 0.2262758642 | A breast infiltrating ductal carcinoma sample
P04062 | GBA | 201 | H | P | 0.3824694042 | 0.6067115004 | 0.2242420962 | Gaucher disease (GD) [MIM:230800]
O76090 | [NAME] | 3 | I | T | 0.3337051914 | 0.557919063 | 0.2242138716 | Vitelliform macular dystrophy type 2 (VMD2) [MIM:153700]
P33076 | CIITA | 962 | F | S | 0.2765597785 | 0.500400952 | 0.2238411735 | Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]
P19544 | WT1 | 392 | F | L | 0.4569799035 | 0.6790963632 | 0.2221164597 | Frasier syndrome (FS) [MIM:136680]
P50416 | CPT1A | 316 | R | G | 0.3883670846 | 0.6097291814 | 0.2213620968 | Carnitine palmitoyltransferase I deficiency (CPT-I deficiency) [MIM:255120]
P15289 | ARSA | 179 | I | S | 0.3035143871 | 0.5246923451 | 0.221177958 | Leukodystrophy metachromatic (MLD) [MIM:250100]
O15305 | PMM2 | 241 | C | S | 0.4814064738 | 0.7012123037 | 0.2198058299 | Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
P07954 | FH | 180 | H | R | 0.3194380635 | 0.5389642873 | 0.2195262238 | Multiple cutaneous and uterine leiomyomata (MCUL1) [MIM:150800]
[NAME] | OTC | 90 | S | R | 0.4054454169 | 0.6244634905 | 0.2190180736 | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P51608 | MECP2 | 284 | K | E | 0.3235297283 | 0.5424497611 | 0.2189200328 | Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
P02766 | TTR | 64 | F | S | 0.4643207758 | 0.6826883649 | 0.2183675891 | Amyloidosis type 1 (AMYL1) [MIM:176300]
P54802 | NAGLU | 591 | L | P | 0.3961946733 | 0.613715591 | 0.2175209177 | Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
O75445 | USH2A | 334 | R | Q | 0.3209274163 | 0.5383889666 | 0.2174615503 | Usher syndrome type 2A (USH2A) [MIM:276901]
P35475 | IDUA | 218 | L | P | 0.4845981812 | 0.7014244159 | 0.2168262347 | Mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]
Q13315 | ATM | 2702 | I | R | 0.3887125044 | 0.6051185832 | 0.2164060788 | [NAME] (AT) [MIM:208900]
Q14376 | GALE | 319 | G | E | 0.2951210155 | 0.5114844347 | 0.2163634192 | Epimerase-deficiency galactosemia (EDG) [MIM:230350]
[NAME] | VWF | 1665 | V | E | 0.4535924079 | 0.6683956118 | 0.2148032039 | Various forms of [NAME] disease (VWD) [MIM:193400, 277480]
P25445 | FAS | 255 | N | D | 0.4549476981 | 0.6695984329 | 0.2146507348 | Squamous cell carcinoma
P26367 | PAX6 | 87 | I | R | 0.4799524148 | 0.6938299001 | 0.2138774853 | Aniridia type II (AN2) [MIM:106210]
P51649 | ALDH5A1 | 176 | G | R | 0.3319504128 | 0.5447757986 | 0.2128253858 | Succinate semialdehyde dehydrogenase deficiency (SSADH deficiency) [MIM:271980]
Q9Y6D9 | MAD1L1 | 569 | E | K | 0.3904887459 | 0.6024473748 | 0.2119586289 | A breast cancer cell line
O43602 | DCX | 141 | N | D | 0.3817415116 | 0.593056652 | 0.2113151404 | [NAME] type 1 (LISX1) [MIM:300067]
P09417 | [NAME] | 14 | L | P | 0.3466157862 | 0.5567514006 | 0.2101356144 | BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
P40337 | VHL | 164 | Q | R | 0.4133681488 | 0.6220762949 | 0.2087081461 | [NAME] disease (VHLD) [MIM:193300]
Q13470 | TNK1 | 339 | R | K | 0.41707677 | 0.625681318 | 0.208604548 | A lung adenocarcinoma sample
P12110 | COL6A2 | 777 | C | R | 0.3430009354 | 0.5516011094 | 0.208600174 | Bethlem myopathy (BM) [MIM:158810]
P15313 | ATP6V1B1 | 81 | L | P | 0.4165359822 | 0.6245969284 | 0.2080609462 | Distal renal tubular acidosis with deafness (dRTA) [MIM:267300]
[NAME] | IL1RAPL2 | 606 | F | L | 0.4240193704 | 0.6316610287 | 0.2076416583 | A breast cancer sample
P30613 | PKLR | 331 | D | E | 0.4978748062 | 0.7054669417 | 0.2075921355 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P04062 | GBA | 502 | R | P | 0.2990643382 | 0.5045028681 | 0.2054385299 | Gaucher disease (GD) [MIM:230800]
P08603 | CFH | 915 | C | S | 0.3547858487 | 0.5599252934 | 0.2051394447 | Hemolytic-uremic syndrome (HUS) [MIM:235400]
O60260 | PARK2 | 328 | G | E | 0.3853712504 | 0.5893006173 | 0.2039293669 | Parkinson disease (PD) [MIM:168600]
P51587 | BRCA2 | 31 | W | C | 0.4972132888 | 0.7004786866 | 0.2032653978 | Breast cancer (BC) [MIM:612555, 114480]
P05186 | ALPL | 189 | D | E | 0.4116503205 | 0.6144939022 | 0.2028435817 | Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]; Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]; Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
[NAME] | OTC | 345 | Y | D | 0.3394274778 | 0.5421340549 | 0.2027065771 | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P11310 | ACADM | 244 | C | R | 0.3087390437 | 0.5108751093 | 0.2021360656 | Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
Q13635 | PTCH1 | 175 | L | P | 0.4763501605 | 0.6782547381 | 0.2019045776 | Basal cell nevus syndrome (BCNS) [MIM:109400]
Q9NP58 | ABCB6 | 69 | R | G | 0.4087786046 | 0.6105335465 | 0.2017549419 | A breast cancer sample
P33897 | ABCD1 | 503 | L | P | 0.3876654988 | 0.589225522 | 0.2015600232 | Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
P07949 | RET | 893 | F | L | 0.3569921437 | 0.5585205482 | 0.2015284045 | Hirschsprung disease (HSCR) [MIM:142623]
Q00604 | NDP | 69 | C | S | 0.3976832172 | 0.5991510712 | 0.201467854 | Norrie disease (ND) [MIM:310600]
Q9UHD2 | TBK1 | 410 | G | R | 0.3490568436 | 0.5498888339 | 0.2008319903 | A colorectal adenocarcinoma sample
Q16586 | SGCA | 173 | L | P | 0.3208049487 | 0.5210745818 | 0.2002696331 | Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
Q13315 | ATM | 2656 | L | P | 0.3573012805 | 0.5568259229 | 0.1995246424 | [NAME] (AT) [MIM:208900]
P09417 | [NAME] | 17 | G | R | 0.3089931921 | 0.5081309448 | 0.1991377527 | BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
P05186 | ALPL | 71 | R | P | 0.304640738 | 0.5035191152 | 0.1988783772 | Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]; Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]; Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
P40692 | MLH1 | 636 | L | P | 0.4149098093 | 0.613778044 | 0.1988682347 | Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
P07225 | PROS1 | 526 | L | S | 0.4784186405 | 0.6768408193 | 0.1984221788 | Protein S deficiency (PROS1D) [MIM:612336]
P16591 | FER | 460 | W | C | 0.4652603289 | 0.66224203 | 0.1969817011 | A lung small cell carcinoma sample
P60484 | PTEN | 155 | Y | C | 0.4178537497 | 0.6146104518 | 0.1967567021 | Cowden disease (CD) [MIM:158350]
Q03426 | MVK | 171 | G | R | 0.3955777827 | 0.591324223 | 0.1957464403 | Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
Q8NBP7 | PCSK9 | 216 | F | L | 0.4954066041 | 0.6909973294 | 0.1955907253 | Familial hypercholesterolemia 3 (FH3) [MIM:603776]
P02766 | TTR | 136 | Y | S | 0.4234959458 | 0.6188757861 | 0.1953798403 | Amyloidosis type 1 (AMYL1) [MIM:176300]
O96017 | CHEK2 | 476 | T | K | 0.4201768169 | 0.6152767503 | 0.1950999334 | Prostate cancer
O95255 | ABCC6 | 1303 | A | P | 0.4515409247 | 0.646594372 | 0.1950534473 | Pseudoxanthoma elasticum (PXE) [MIM:264800]
Q8WZ42 | TTN | 23551 | E | Q | 0.3157081848 | 0.5102422302 | 0.1945340454 | A gastric adenocarcinoma sample
[NAME] | [NAME] | 583 | L | P | 0.41779413 | 0.6117954535 | 0.1940013235 | Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
P08397 | HMBS | 34 | Q | P | 0.3981099645 | 0.5919972412 | 0.1938872767 | Acute intermittent porphyria (AIP) [MIM:176000]
P55000 | SLURP1 | 99 | C | Y | 0.3102987108 | 0.5040711284 | 0.1937724176 | Mal de Meleda (MDM) [MIM:248300]
Q9C0K7 | STRADB | 155 | G | E | 0.3192397119 | 0.5129518582 | 0.1937121463 | A metastatic melanoma sample
P21359 | NF1 | 1204 | R | G | 0.4253765169 | 0.6189696483 | 0.1935931314 | Type 1 neurofibromatosis (NF1) [MIM:162200]
Q9UHN1 | POLG2 | 451 | G | E | 0.445971601 | 0.6382058672 | 0.1922342662 | Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 4 (PEOA4) [MIM:610131]
P20807 | CAPN3 | 222 | G | R | 0.3326294735 | 0.524143901 | 0.1915144275 | Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
P08603 | CFH | 893 | H | R | 0.4962337582 | 0.687372789 | 0.1911390308 | Hemolytic-uremic syndrome (HUS) [MIM:235400]
P21359 | NF1 | 763 | L | P | 0.4993198939 | 0.69019726 | 0.1908773661 | Type 1 neurofibromatosis (NF1) [MIM:162200]
P55000 | SLURP1 | 77 | C | R | 0.4367629444 | 0.626775136 | 0.1900121916 | Mal de Meleda (MDM) [MIM:248300]
O75916 | [NAME] | 299 | W | R | 0.3713916193 | 0.5609313621 | 0.1895397428 | Prolonged electroretinal response suppression ([NAME]) [MIM:608415]
O60880 | SH2D1A | 31 | L | P | 0.3355180708 | 0.5242403954 | 0.1887223246 | Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
P01130 | LDLR | 302 | C | W | 0.3152578732 | 0.5037663912 | 0.188508518 | Familial hypercholesterolemia (FH) [MIM:143890]
[NAME] | UROD | 318 | G | R | 0.3955658916 | 0.5826201782 | 0.1870542866 | Familial porphyria cutanea tarda (FPCT) [MIM:176100]
P46019 | PHKA2 | 189 | K | E | 0.3939740448 | 0.5768327547 | 0.1828587099 | Glycogen storage disease type 9A (GSD9A) [MIM:306000]
P55084 | HADHB | 121 | L | P | 0.4136519244 | 0.5939359695 | 0.1802840451 | Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
[NAME] | KIAA0196 | 471 | N | D | 0.399288734 | 0.578882674 | 0.17959394 | Spastic paraplegia autosomal dominant type 8 (SPG8) [MIM:603563]
P23468 | PTPRD | 28 | R | Q | 0.3445340119 | 0.5240386179 | 0.179504606 | A colorectal cancer sample
Q92947 | GCDH | 407 | L | P | 0.3714443634 | 0.5508072331 | 0.1793628697 | Glutaric aciduria type 1 (GA1) [MIM:231670]
Q9H2C0 | GAN | 51 | A | P | 0.4001370956 | 0.579006933 | 0.1788698374 | Giant axonal neuropathy (GAN) [MIM:256850]
P02766 | TTR | 144 | N | S | 0.4123954309 | 0.590649071 | 0.1782536401 | Amyloidosis type 1 (AMYL1) [MIM:176300]
Q96RP9 | GFM1 | 496 | M | R | 0.4941329377 | 0.6721467906 | 0.1780138529 | Combined oxidative phosphorylation deficiency type 1 (COXPD1) [MIM:609060]
P07225 | PROS1 | 664 | H | P | 0.3340947616 | 0.5105857177 | 0.1764909561 | Protein S deficiency (PROS1D) [MIM:612336]
O14582 | TRAPPC2 | 130 | V | D | 0.3327163477 | 0.5090821126 | 0.1763657649 | Spondyloepiphyseal dysplasia tarda (SEDT) [MIM:313400]
P06280 | GLA | 358 | E | K | 0.3587721577 | 0.5349634661 | 0.1761913084 | Fabry disease (FD) [MIM:301500]
P53634 | CTSC | 272 | R | P | 0.4295069812 | 0.6056307313 | 0.1761237501 | Papillon-Lefevre syndrome (PLS) [MIM:245000]
O15118 | NPC1 | 1023 | V | G | 0.3782743061 | 0.5542795183 | 0.1760052122 | Niemann-Pick disease type C1 (NPC1) [MIM:257220]
Q04671 | OCA2 | 290 | R | G | 0.4126422403 | 0.5879371753 | 0.175294935 | Oculocutaneous albinism type 2 (OCA2) [MIM:203200]
P16473 | TSHR | 41 | C | S | 0.4158242866 | 0.5910672924 | 0.1752430058 | Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
Q14353 | GAMT | 54 | A | P | 0.4291258988 | 0.6033602821 | 0.1742343833 | Guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736]
P61457 | PCBD1 | 82 | C | R | 0.3320755298 | 0.5059510552 | 0.1738755254 | Hyperphenylalaninemia with primapterinuria (hyperphenylalaninemia) [MIM:264070]
P00748 | F12 | 372 | R | P | 0.473447285 | 0.6468229884 | 0.1733757034 | Factor [NAME] deficiency (FA12D) [MIM:234000]
P42702 | LIFR | 1068 | F | L | 0.4501720117 | 0.6227888152 | 0.1726168035 | A colorectal cancer sample
P22033 | MUT | 291 | G | E | 0.3847759755 | 0.5573009775 | 0.172525002 | Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P40939 | HADHA | 282 | V | D | 0.3677952973 | 0.5397784029 | 0.1719831056 | Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
[NAME] | CFTR | 558 | L | S | 0.401833024 | 0.5731665373 | 0.1713335133 | Cystic fibrosis (CF) [MIM:219700]
Q6VVB1 | NHLRC1 | 26 | C | S | 0.4018789891 | 0.573201054 | 0.1713220649 | Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
P15848 | ARSB | 405 | C | Y | 0.3540289155 | 0.5249024827 | 0.1708735672 | Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
Q92947 | GCDH | 128 | R | G | 0.432743979 | 0.6031786938 | 0.1704347148 | Glutaric aciduria type 1 (GA1) [MIM:231670]
P08397 | HMBS | 92 | L | P | 0.352207524 | 0.5225507778 | 0.1703432538 | Acute intermittent porphyria (AIP) [MIM:176000]
P43246 | MSH2 | 187 | L | P | 0.3676616375 | 0.5378571287 | 0.1701954912 | Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
P15289 | ARSA | 181 | L | Q | 0.4434891032 | 0.6131032819 | 0.1696141787 | Leukodystrophy metachromatic (MLD) [MIM:250100]
P13645 | KRT10 | 160 | Y | S | 0.4653316855 | 0.6348835985 | 0.169551913 | Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]
P17813 | ENG | 8 | L | P | 0.413082896 | 0.5826282322 | 0.1695453362 | Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]
Q92574 | [NAME] | 500 | R | Q | 0.4534263597 | 0.6213673551 | 0.1679409954 | Tuberous sclerosis complex (TSC) [MIM:191100]
O75027 | ABCB7 | 400 | I | M | 0.3846381936 | 0.5520183133 | 0.1673801197 | X-linked sideroblastic anemia with ataxia (ASAT) [MIM:301310]
Q92574 | [NAME] | 72 | L | P | 0.4084136056 | 0.5747484271 | 0.1663348215 | Tuberous sclerosis complex (TSC) [MIM:191100]
Q9NZC9 | SMARCAL1 | 764 | R | Q | 0.4812468401 | 0.6475000708 | 0.1662532307 | [NAME] immuno-osseous dysplasia (SIOD) [MIM:242900]
Q16280 | CNGA2 | 97 | R | H | 0.4580827455 | 0.6232745826 | 0.1651918371 | A breast cancer sample
P22557 | ALAS2 | 476 | I | N | 0.4234997832 | 0.5885969511 | 0.1650971679 | Anemia sideroblastic X-linked (XLSA) [MIM:300751]
P30613 | PKLR | 111 | G | R | 0.4056484485 | 0.5684833599 | 0.1628349114 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P17813 | ENG | 306 | L | P | 0.4905639458 | 0.6525205189 | 0.1619565731 | Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]
Q9UBP0 | SPAST | 534 | L | P | 0.4925535205 | 0.6534135296 | 0.1608600091 | Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
Q06187 | BTK | 652 | L | P | 0.4526366417 | 0.6130956951 | 0.1604590534 | X-linked agammaglobulinemia (XLA) [MIM:300755]
P35520 | CBS | 355 | A | P | 0.3989097719 | 0.5591744689 | 0.160264697 | Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
Q92947 | GCDH | 283 | L | P | 0.4027903154 | 0.5623030726 | 0.1595127572 | Glutaric aciduria type 1 (GA1) [MIM:231670]
Q9BXM7 | PINK1 | 168 | A | P | 0.3747814234 | 0.5338842677 | 0.1591028443 | Autosomal recessive early-onset Parkinson disease 6 (PARK6) [MIM:605909, 168600]
O14773 | TPP1 | 77 | G | R | 0.4584994513 | 0.6172870555 | 0.1587876042 | Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) [MIM:204500]
Q96RK4 | BBS4 | 351 | L | R | 0.4821152284 | 0.6404235209 | 0.1583082925 | [NAME] syndrome type 4 (BBS4) [MIM:209900]
P06400 | RB1 | 673 | H | P | 0.4276086662 | 0.5852714478 | 0.1576627816 | Childhood cancer retinoblastoma (RB) [MIM:180200]
P33897 | ABCD1 | 389 | R | G | 0.4159185181 | 0.5726950438 | 0.1567765257 | Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
Q9Y2L5 | KIAA1012 | 537 | R | Q | 0.3540206031 | 0.5104954224 | 0.1564748193 | A breast cancer sample
P35557 | GCK | 257 | W | R | 0.389872507 | 0.5459445634 | 0.1560720564 | Maturity onset diabetes of the young type 2 (MODY2) [MIM:125851]
Q13936 | CACNA1C | 406 | G | R | 0.4664024403 | 0.622267111 | 0.1558646707 | Timothy syndrome (TS) [MIM:601005]
P39019 | RPS19 | 64 | L | P | 0.3939032452 | 0.5495817314 | 0.1556784862 | Diamond-Blackfan anemia type 1 (DBA1) [MIM:105650]
P05186 | ALPL | 235 | E | G | 0.3552721716 | 0.5098443045 | 0.1545721329 | Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]; Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]; Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
O15118 | NPC1 | 1016 | H | R | 0.4426778609 | 0.5959235806 | 0.1532457197 | Niemann-Pick disease type C1 (NPC1) [MIM:257220]
Q99836 | MYD88 | 93 | L | P | 0.408632044 | 0.561432685 | 0.152800641 | MYD88 deficiency (MYD88D) [MIM:612260]
P20933 | AGA | 135 | F | S | 0.3554277652 | 0.5063063767 | 0.1508786115 | Aspartylglucosaminuria (AGU) [MIM:208400]
P43026 | GDF5 | 441 | L | P | 0.3565214116 | 0.5070961065 | 0.1505746949 | Brachydactyly type A2 (BDA2) [MIM:112600]; Du Pan syndrome [MIM:228900]
Q9GZX3 | CHST6 | 42 | H | Y | 0.4074003303 | 0.5574063606 | 0.1500060303 | Macular corneal dystrophy (MCD) [MIM:217800]
P12694 | BCKDHA | 409 | F | C | 0.4575792541 | 0.6067676391 | 0.149188385 | Maple syrup urine disease type IA (MSUD1A) [MIM:248600]
P49815 | TSC2 | 1329 | R | H | 0.4063564323 | 0.5540091318 | 0.1476526995 | Tuberous sclerosis complex (TSC) [MIM:191100]
P15289 | ARSA | 428 | L | P | 0.437584822 | 0.5822642235 | 0.1446794015 | Leukodystrophy metachromatic (MLD) [MIM:250100]
P11387 | TOP1 | 326 | K | R | 0.4617810166 | 0.6063208249 | 0.1445398083 | Breast cancer
P04062 | GBA | 200 | I | S | 0.4185212966 | 0.5620209399 | 0.1434996433 | Gaucher disease (GD) [MIM:230800]
P60484 | PTEN | 170 | S | R | 0.437732678 | 0.5809532256 | 0.1432205476 | [NAME] syndrome (BZS) [MIM:153480]
O14939 | [NAME] | 807 | Q | E | 0.4076657196 | 0.5507623179 | 0.1430965983 | A breast cancer sample
O00255 | MEN1 | 228 | L | P | 0.3586336102 | 0.5006348649 | 0.1420012547 | Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100]
[NAME] | SMPD1 | 242 | G | R | 0.3777818981 | 0.5194500729 | 0.1416681748 | Niemann-Pick disease type B (NPB) [MIM:607616]
Q06187 | BTK | 370 | I | M | 0.4386778574 | 0.5793678003 | 0.1406899429 | X-linked agammaglobulinemia (XLA) [MIM:300755]
P30044 | PRDX5 | 157 | F | L | 0.3951987736 | 0.5336661995 | 0.1384674259 | A breast cancer sample
O14773 | TPP1 | 287 | I | N | 0.4009303022 | 0.5389097329 | 0.1379794307 | Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) [MIM:204500]
O60832 | DKC1 | 36 | F | V | 0.4037217573 | 0.5410439966 | 0.1373222393 | Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
P05166 | PCCB | 153 | A | P | 0.3692049869 | 0.5055515645 | 0.1363465776 | Propionic acidemia type II (PA-2) [MIM:606054]
P40337 | VHL | 188 | L | P | 0.4075787599 | 0.5423383205 | 0.1347595606 | [NAME] disease (VHLD) [MIM:193300]
Q9Y6D9 | MAD1L1 | 572 | R | H | 0.4580971688 | 0.5923042345 | 0.1342070657 | A cancer cell line
P30518 | AVPR2 | 105 | F | V | 0.4054639297 | 0.5395066043 | 0.1340426746 | Diabetes insipidus nephrogenic X-linked (XNDI) [MIM:304800]
P35520 | CBS | 154 | L | Q | 0.4782007099 | 0.611827656 | 0.1336269461 | Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P13645 | KRT10 | 439 | K | E | 0.4364656272 | 0.5700743166 | 0.1336086894 | Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]
O95140 | MFN2 | 76 | L | P | 0.4797916499 | 0.6133749871 | 0.1335833372 | Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]
P07359 | GP1BA | 145 | L | P | 0.4139967077 | 0.5466414577 | 0.13264475 | [NAME] syndrome (BSS) [MIM:231200]
P13645 | KRT10 | 160 | Y | N | 0.4653316855 | 0.5977895586 | 0.1324578731 | Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]
P08236 | GUSB | 38 | C | G | 0.4406889601 | 0.571516659 | 0.1308276989 | Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
P40692 | MLH1 | 77 | C | R | 0.4111397709 | 0.5413300348 | 0.1301902639 | Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
P54098 | POLG | 3 | R | P | 0.4738358416 | 0.6036513464 | 0.1298155048 | Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive (PEOB) [MIM:258450]
P11161 | EGR2 | 268 | I | N | 0.4280630843 | 0.5576359247 | 0.1295728404 | Congenital hypomyelination neuropathy (CHN) [MIM:605253]
P13942 | COL11A2 | 808 | G | E | 0.4430781773 | 0.5721844506 | 0.1291062733 | Non-syndromic sensorineural deafness autosomal dominant type 13 (DFNA13) [MIM:601868]
P13645 | KRT10 | 160 | Y | D | 0.4653316855 | 0.5923751591 | 0.1270434736 | Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]
P21359 | NF1 | 549 | L | P | 0.4909537255 | 0.6178523944 | 0.1268986689 | Type 1 neurofibromatosis (NF1) [MIM:162200]
Q9BYI3 | FAM126A | 53 | L | P | 0.4385695862 | 0.5648240331 | 0.1262544469 | Leukodystrophy hypomyelinating type 5 (HLD5) [MIM:610532]
Q99497 | PARK7 | 166 | L | P | 0.4823359319 | 0.6085586656 | 0.1262227337 | Autosomal recessive early-onset Parkinson disease 7 (PARK7) [MIM:606324, 168600]
Q16678 | CYP1B1 | 466 | G | D | 0.4009899266 | 0.527169919 | 0.1261799924 | Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]
P30613 | PKLR | 393 | N | K | 0.4396391088 | 0.5657247816 | 0.1260856728 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P05062 | ALDOB | 284 | L | P | 0.4037519318 | 0.5294222234 | 0.1256702916 | Hereditary fructose intolerance (HFI) [MIM:229600]
P51688 | SGSH | 146 | L | P | 0.3852925732 | 0.510685703 | 0.1253931298 | Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
Q5GFL6 | VWA2 | 137 | L | R | 0.4968741932 | 0.6212741009 | 0.1243999077 | A colorectal cancer sample
Q9H792 | SGK269 | 611 | H | Q | 0.4563806598 | 0.5806916229 | 0.1243109631 | A bladder carcinoma NOS sample
P08514 | ITGA2B | 86 | L | P | 0.4293439951 | 0.5531437193 | 0.1237997242 | Glanzmann thrombasthenia (GT) [MIM:273800]
P06400 | RB1 | 185 | I | T | 0.4431635756 | 0.5669595346 | 0.123795959 | Childhood cancer retinoblastoma (RB) [MIM:180200]
O43175 | PHGDH | 490 | V | M | 0.4461433288 | 0.5690166443 | 0.1228733155 | Phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) [MIM:601815]
O15305 | PMM2 | 144 | F | L | 0.4677472538 | 0.590475663 | 0.1227284092 | Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
P04062 | GBA | 85 | G | E | 0.3819984182 | 0.5044940797 | 0.1224956615 | Gaucher disease (GD) [MIM:230800]
Q9Y3A5 | SBDS | 87 | I | S | 0.3955091176 | 0.5178014961 | 0.1222923785 | [NAME] syndrome (SDS) [MIM:260400]
P00740 | F9 | 407 | C | S | 0.4152266086 | 0.5373471126 | 0.122120504 | Recessive X-linked hemophilia B (HEMB) [MIM:306900]
P08514 | ITGA2B | 847 | L | P | 0.4531644657 | 0.5744842445 | 0.1213197788 | Glanzmann thrombasthenia (GT) [MIM:273800]
Q8NBK3 | SUMF1 | 348 | A | P | 0.4037431941 | 0.5248284925 | 0.1210852984 | Multiple sulfatase deficiency (MSD) [MIM:272200]
Q92838 | EDA | 69 | R | L | 0.4727885223 | 0.5930176243 | 0.120229102 | Ectodermal dysplasia, type 1 (ED1) [MIM:305100]
Q07889 | SOS1 | 550 | L | P | 0.3917901277 | 0.5117437576 | 0.1199536299 | Noonan syndrome type 4 (NS4) [MIM:610733]
P02787 | TF | 477 | A | P | 0.3921733971 | 0.5118191232 | 0.1196457261 | Atransferrinemia (ATRAF) [MIM:209300]
P40337 | VHL | 178 | L | P | 0.4592808833 | 0.5769043143 | 0.117623431 | [NAME] disease (VHLD) [MIM:193300]
Q03692 | COL10A1 | 653 | Q | P | 0.3852197343 | 0.5026313652 | 0.1174116309 | Schmid type metaphyseal chondrodysplasia (SMCD) [MIM:156500]
Q7LGC8 | CHST3 | 259 | L | P | 0.4528342998 | 0.5701555182 | 0.1173212184 | Spondyloepiphyseal dysplasia Omani type (SED Omani type) [MIM:608637]
P19438 | TNFRSF1A | 117 | C | R | 0.39434431 | 0.5111735884 | 0.1168292784 | Familial hibernian fever (FHF) [MIM:142680]
P05155 | SERPING1 | 130 | C | Y | 0.4547570476 | 0.5704127738 | 0.1156557262 | Hereditary angioedema (HAE) [MIM:106100]
Q9UBP0 | SPAST | 460 | R | L | 0.4900715039 | 0.6049984613 | 0.1149269574 | Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
P22304 | IDS | 478 | D | G | 0.4911126138 | 0.6060106256 | 0.1148980118 | Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
P41180 | CASR | 557 | G | E | 0.4879379092 | 0.6027400788 | 0.1148021696 | Familial hypocalciuric hypercalcemia type 1 (FHH) [MIM:145980]
P05186 | ALPL | 297 | Y | D | 0.4629803724 | 0.5776201695 | 0.1146397971 | Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]; Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]; Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
P05166 | PCCB | 519 | L | P | 0.4900529482 | 0.604251818 | 0.1141988698 | Propionic acidemia type II (PA-2) [MIM:606054]
P12644 | BMP4 | 162 | R | Q | 0.3995742386 | 0.5137403941 | 0.1141661555 | Non-syndromic orofacial cleft type 11 (OFC11) [MIM:600625]
P51688 | SGSH | 40 | Y | N | 0.3953353388 | 0.5075753593 | 0.1122400205 | Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
P13645 | KRT10 | 161 | L | S | 0.4499636274 | 0.5621713752 | 0.1122077478 | Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]
Q92698 | RAD54L | 444 | V | E | 0.4225066702 | 0.5342578334 | 0.1117511632 | Lymphoma
Q9BQT9 | CLSTN3 | 874 | H | Y | 0.41689591 | 0.5285585231 | 0.1116626131 | A colorectal cancer sample
Q9Y6D9 | MAD1L1 | 558 | R | H | 0.4279786079 | 0.539639067 | 0.1116604591 | A cancer cell line
P51587 | BRCA2 | 1106 | S | R | 0.4593402902 | 0.5709082884 | 0.1115679982 | Breast cancer (BC) [MIM:612555, 114480]
O43520 | ATP8B1 | 853 | F | S | 0.4044709789 | 0.5159503592 | 0.1114793803 | Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
P49638 | TTPA | 246 | G | R | 0.4557912317 | 0.5668658212 | 0.1110745895 | [NAME] with isolated vitamin E deficiency (AVED) [MIM:277460]
Q05066 | SRY | 90 | I | M | 0.4785096576 | 0.5881471735 | 0.1096375159 | Gonadal dysgenesis XY female type (GDXY) [MIM:306100]; True hermaphroditism [MIM:235600]
P43246 | MSH2 | 639 | H | R | 0.4011831549 | 0.5104702115 | 0.1092870566 | Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
Q16854 | DGUOK | 250 | L | S | 0.4566859613 | 0.5653563779 | 0.1086704166 | Hepatocerebral mitochondrial DNA depletion syndrome (MDS) [MIM:251880]
P35575 | G6PC | 341 | I | N | 0.4672906162 | 0.5743047807 | 0.1070141645 | Glycogen storage disease type 1A (GSD1A) [MIM:232200]
P31785 | IL2RG | 144 | Q | P | 0.4265759869 | 0.5333429336 | 0.1067669467 | X-linked severe combined immunodeficiency (XSCID) [MIM:300400]
Q9H6K4 | [NAME] | 105 | Q | E | 0.4369547579 | 0.5432674662 | 0.1063127083 | Optic atrophy type 3 ([NAME]) [MIM:165300]
O15305 | PMM2 | 229 | Y | S | 0.4164420602 | 0.5227427817 | 0.1063007215 | Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
O95718 | ESRRB | 320 | L | P | 0.4197812073 | 0.5254647707 | 0.1056835634 | Non-syndromic sensorineural deafness autosomal recessive type 35 (DFNB35) [MIM:608565]
P60891 | PRPS1 | 114 | N | S | 0.4027891978 | 0.5078695323 | 0.1050803345 | Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
Q13873 | [NAME] | 483 | C | R | 0.4286143805 | 0.5336605783 | 0.1050461978 | Primary pulmonary hypertension (PPH1) [MIM:178600]
Q9Y6D9 | MAD1L1 | 556 | R | H | 0.426682948 | 0.5315844425 | 0.1049014945 | One individual with lung cancer
P18074 | ERCC2 | 511 | R | Q | 0.4145070677 | 0.5192469779 | 0.1047399102 | Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P19544 | WT1 | 355 | C | G | 0.480578232 | 0.5847328769 | 0.1041546449 | Wilms tumor 1 (WT1) [MIM:194070]
P78562 | PHEX | 746 | C | W | 0.4222169477 | 0.5258646251 | 0.1036476774 | X-linked hypophosphatemic rickets (HYP) [MIM:307800]
P01008 | SERPINC1 | 302 | L | P | 0.4136660072 | 0.5171929066 | 0.1035268994 | [NAME] deficiency (AT3D) [MIM:107300]
Q92574 | [NAME] | 216 | F | L | 0.4100657677 | 0.5131403199 | 0.1030745522 | A bladder tumor
Q13873 | [NAME] | 485 | D | G | 0.4147823785 | 0.5176838994 | 0.1029015209 | Primary pulmonary hypertension (PPH1) [MIM:178600]
Q9UHR6 | ZNHIT2 | 59 | A | P | 0.4670943264 | 0.5679301543 | 0.1008358279 | A breast cancer sample
P40692 | MLH1 | 63 | D | E | 0.401021985 | 0.5013370612 | 0.1003150762 | Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
Q8WXF7 | [NAME] | 247 | H | P | 0.4949190824 | 0.5946966827 | 0.0997776003 | Spastic paraplegia autosomal dominant type 3 (SPG3) [MIM:182600]
Q6N021 | TET2 | 1318 | E | G | 0.4356456479 | 0.5343476926 | 0.0987020447 | A chronic myelomonocytic leukemia sample
P26367 | PAX6 | 33 | A | P | 0.4418516396 | 0.540294358 | 0.0984427184 | Aniridia type II (AN2) [MIM:106210]
P37023 | ACVRL1 | 67 | R | Q | 0.47563544 | 0.5731500046 | 0.0975145646 | Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
Q9Y2X9 | ZNF281 | 527 | I | T | 0.4341167933 | 0.5310982697 | 0.0969814763999999 | A breast cancer sample
O14773 | TPP1 | 278 | Q | P | 0.4616048118 | 0.5583305489 | 0.0967257371 | Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) [MIM:204500]
P08603 | CFH | 1076 | Q | E | 0.431630801 | 0.5272090799 | 0.0955782789 | Complement factor H deficiency (CFH deficiency) [MIM:609814]
Q99698 | [NAME] | 1999 | V | D | 0.4578349603 | 0.5533825229 | 0.0955475626 | [NAME] syndrome (CHS) [MIM:214500]
P22033 | MUT | 370 | T | P | 0.4222500759 | 0.5161853284 | 0.0939352525 | Methylmalonic aciduria type mut (MMAM) [MIM:251000]
Q04656 | ATP7A | 1255 | G | R | 0.435329422 | 0.5288991887 | 0.0935697666999999 | Menkes disease (MNKD) [MIM:309400]
Q96CV9 | OPTN | 103 | E | D | 0.4141791882 | 0.5072536886 | 0.0930745004 | Primary open angle glaucoma type 1E (GLC1E) [MIM:137760]
O43933 | PEX1 | 1237 | A | E | 0.4564289863 | 0.549476164 | 0.0930471777 | Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]
P22033 | MUT | 535 | A | P | 0.4566512206 | 0.5483473546 | 0.0916961339999999 | Methylmalonic aciduria type mut (MMAM) [MIM:251000]
Q30201 | HFE | 295 | V | A | 0.4165408999 | 0.5079541659 | 0.091413266 | Hereditary hemochromatosis (HH) [MIM:235200]
P37173 | TGFBR2 | 308 | L | P | 0.4892528587 | 0.5804914353 | 0.0912385766 | Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]
Q8TDN2 | KCNV2 | 126 | L | Q | 0.4988481504 | 0.5896445156 | 0.0907963652 | Cone dystrophy retinal type 3B (RCD3B) [MIM:610356]
P51688 | SGSH | 235 | D | N | 0.4239325679 | 0.5146548065 | 0.0907222385999999 | Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
P52952 | NKX2-5 | 161 | R | P | 0.431216028 | 0.5211683068 | 0.0899522788000001 | Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]
Q6ZRC1 | C4orf50 | 150 | A | P | 0.4907677628 | 0.5803476829 | 0.0895799201 | A breast cancer sample
Q9NTW7 | ZFP64 | 609 | K | N | 0.4900960762 | 0.5776837153 | 0.0875876390999999 | A breast cancer sample
P35713 | SOX18 | 104 | A | P | 0.4773368598 | 0.5639192101 | 0.0865823503 | Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) [MIM:607823]
P26439 | HSD3B2 | 245 | A | P | 0.4448755336 | 0.5308512678 | 0.0859757342 | Adrenal hyperplasia type 2 (AH2) [MIM:201810]
P20823 | HNF1A | 12 | L | H | 0.4591712427 | 0.5418181975 | 0.0826469548000001 | Maturity onset diabetes of the young type 3 ([NAME]) [MIM:600496]
[NAME] | JAG1 | 37 | L | S | 0.4198323708 | 0.5023693938 | 0.082537023 | Alagille syndrome type 1 (ALGS1) [MIM:118450]
O95255 | ABCC6 | 1302 | G | R | 0.4325673014 | 0.5138723466 | 0.0813050452 | Pseudoxanthoma elasticum (PXE) [MIM:264800]
P20823 | HNF1A | 165 | W | C | 0.4989461735 | 0.5789951587 | 0.0800489852 | A hepatocellular carcinoma sample
P40692 | MLH1 | 662 | T | P | 0.4427736743 | 0.5227401065 | 0.0799664322 | Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
P01130 | LDLR | 416 | R | Q | 0.4893794475 | 0.5688200508 | 0.0794406033 | Familial hypercholesterolemia (FH) [MIM:143890]
O00628 | PEX7 | 14 | T | P | 0.4549070049 | 0.5341072941 | 0.0792002892 | Refsum disease (RD) [MIM:266500]
P22304 | IDS | 264 | Y | N | 0.4226795849 | 0.5017247911 | 0.0790452062 | Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
[NAME] | [NAME] | 218 | Y | N | 0.482728676 | 0.5613712198 | 0.0786425438 | Multiple epiphyseal dysplasia type 5 (EDM5) [MIM:607078]
P04062 | GBA | 196 | K | Q | 0.491241541 | 0.5696841375 | 0.0784425965 | Gaucher disease (GD) [MIM:230800]
O43405 | COCH | 109 | I | N | 0.4272693011 | 0.5055473997 | 0.0782780986 | Non-syndromic sensorineural deafness autosomal dominant type 9 (DFNA9) [MIM:601369]
Q15582 | TGFBI | 555 | R | Q | 0.4728244325 | 0.5498853102 | 0.0770608777 | Corneal dystrophy [NAME] type (CDTB) [MIM:602082]
P00740 | F9 | 424 | F | V | 0.4466347013 | 0.5234339304 | 0.0767992291 | Recessive X-linked hemophilia B (HEMB) [MIM:306900]
P00813 | ADA | 142 | R | Q | 0.4436811139 | 0.5200270731 | 0.0763459592 | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P17661 | DES | 389 | Q | P | 0.4973252586 | 0.5719403697 | 0.0746151111 | [NAME]-related cardio-skeletal myopathy (CSM) [MIM:601419]
Q92947 | GCDH | 403 | H | R | 0.459644432 | 0.5340963031 | 0.0744518711 | Glutaric aciduria type 1 (GA1) [MIM:231670]
P48643 | CCT5 | 147 | H | R | 0.4822851666 | 0.5552949385 | 0.0730097719 | Autosomal recessive sensory neuropathy with spastic paraplegia [MIM:256840]
Q8NI22 | MCFD2 | 136 | I | T | 0.4416867579 | 0.5145853406 | 0.0728985827 | Factor V and factor [NAME] combined deficiency (F5F8D) [MIM:227300]
P52952 | NKX2-5 | 22 | Q | P | 0.4885292316 | 0.5607433089 | 0.0722140773 | Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]
Q9GZX3 | CHST6 | 358 | Y | D | 0.4475686602 | 0.5191136414 | 0.0715449812 | Macular corneal dystrophy (MCD) [MIM:217800]
P04062 | GBA | 235 | S | P | 0.4579308087 | 0.5290489707 | 0.071118162 | Gaucher disease (GD) [MIM:230800]
[NAME] | OTC | 126 | D | G | 0.4977674365 | 0.5688515346 | 0.0710840981 | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P33897 | ABCD1 | 544 | Q | R | 0.4402219536 | 0.5105100098 | 0.0702880562000001 | Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
Q9Y6K9 | IKBKG | 227 | L | P | 0.4973748707 | 0.565860914 | 0.0684860433 | Ectodermal dysplasia anhidrotic with immunodeficiency X-linked (EDAXID) [MIM:300291]
Q9NPJ1 | MKKS | 181 | A | P | 0.4611214319 | 0.5292843297 | 0.0681628978 | [NAME] syndrome type 6 (BBS6) [MIM:209900]
Q13873 | [NAME] | 491 | R | Q | 0.4725106149 | 0.5401572547 | 0.0676466398 | Primary pulmonary hypertension (PPH1) [MIM:178600]
[NAME] | NDUFS7 | 122 | V | M | 0.4810331587 | 0.5481249481 | 0.0670917894 | Leigh syndrome (LS) [MIM:256000]
[NAME] | CFTR | 551 | G | S | 0.4621712977 | 0.5276582213 | 0.0654869236 | Cystic fibrosis (CF) [MIM:219700]
P55017 | SLC12A3 | 69 | H | N | 0.4567881711 | 0.5221654543 | 0.0653772832000001 | [NAME] syndrome (GS) [MIM:263800]
P13645 | KRT10 | 442 | L | Q | 0.4917533989 | 0.5560112779 | 0.064257879 | Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]
O75923 | DYSF | 1349 | L | V | 0.4508776594 | 0.5133032912 | 0.0624256317999999 | A breast cancer sample
P40337 | VHL | 178 | L | Q | 0.4592808833 | 0.5214921463 | 0.062211263 | [NAME] disease (VHLD) [MIM:193300]
P20807 | CAPN3 | 354 | V | G | 0.4957118993 | 0.557786832 | 0.0620749327 | Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
P12830 | CDH1 | 473 | V | D | 0.4608178722 | 0.5228077774 | 0.0619899052 | Diffuse gastric cancer
P08686 | CYP21A2 | 281 | V | G | 0.4867375257 | 0.5484023475 | 0.0616648218 | Adrenal hyperplasia type 3 (AH3) [MIM:201910]
Q969F8 | KISS1R | 386 | R | P | 0.4767177793 | 0.5382810759 | 0.0615632966 | Central precocious puberty [MIM:176400]
P21817 | RYR1 | 403 | I | M | 0.4769396891 | 0.5353956628 | 0.0584559736999999 | Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]; Central core disease of muscle (CCD) [MIM:117000]
Q969F8 | KISS1R | 148 | L | S | 0.4764282386 | 0.5333534093 | 0.0569251707 | Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
P17661 | DES | 357 | A | P | 0.4743127789 | 0.5310376177 | 0.0567248388 | [NAME]-related cardio-skeletal myopathy (CSM) [MIM:601419]
O95140 | MFN2 | 280 | R | H | 0.4465043975 | 0.5026662979 | 0.0561619004 | Charcot-Marie-Tooth disease type 2A2 (CMT2A2) [MIM:609260]
[NAME] | CFTR | 553 | R | Q | 0.4725356038 | 0.5271730797 | 0.0546374759000001 | Cystic fibrosis (CF) [MIM:219700]
P08397 | HMBS | 222 | V | M | 0.4741339721 | 0.5286274251 | 0.054493453 | Acute intermittent porphyria (AIP) [MIM:176000]
P05186 | ALPL | 423 | V | A | 0.4947343207 | 0.5473412468 | 0.0526069261 | Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]; Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]; Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
O43520 | ATP8B1 | 688 | D | G | 0.4581801791 | 0.5103099755 | 0.0521297964 | Progressive familial intrahepatic cholestasis type 1 (PFIC1) [MIM:211600]
P35914 | HMGCL | 48 | K | N | 0.483456193 | 0.5350733876 | 0.0516171946 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
P30613 | PKLR | 331 | D | N | 0.4978748062 | 0.5483105297 | 0.0504357235 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
Q9UM01 | SLC7A7 | 489 | S | P | 0.4826425419 | 0.5319957103 | 0.0493531684 | Lysinuric protein intolerance (LPI) [MIM:222700]
P21439 | ABCB4 | 535 | G | D | 0.4797134497 | 0.5259694239 | 0.0462559742 | Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
P23352 | KAL1 | 304 | N | S | 0.4627430415 | 0.5082516804 | 0.0455086389 | [NAME] syndrome type 1 (KAL1) [MIM:308700]
P51688 | SGSH | 74 | R | H | 0.4952205541 | 0.5404702745 | 0.0452497204 | Mucopolysaccharidosis type 3A (MPS3A) [MIM:252900]
O15305 | PMM2 | 223 | D | N | 0.491238293 | 0.5363542797 | 0.0451159867000001 | Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
P35520 | CBS | 371 | V | M | 0.4760438997 | 0.5199789417 | 0.043935042 | Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
Q8WZ42 | TTN | 18835 | V | A | 0.4567421062 | 0.5004982545 | 0.0437561483 | A breast infiltrating ductal carcinoma sample
P06744 | GPI | 20 | H | P | 0.4630528483 | 0.5056519053 | 0.0425990570000001 | Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]
P31785 | IL2RG | 293 | L | Q | 0.4727791585 | 0.5147925372 | 0.0420133786999999 | X-linked combined immunodeficiency (XCID) [MIM:312863]
P00492 | HPRT1 | 53 | V | M | 0.4934779789 | 0.535235403 | 0.0417574241000001 | Gout [MIM:300323]
Q9UNS1 | TIMELESS | 429 | A | D | 0.4968484503 | 0.5381667478 | 0.0413182974999999 | A breast cancer sample
P37023 | ACVRL1 | 179 | D | A | 0.4960951123 | 0.5373622246 | 0.0412671123000001 | Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
P26367 | PAX6 | 26 | R | G | 0.4888266013 | 0.5300735288 | 0.0412469275 | [NAME] anomaly [MIM:604229]
Q6ZVN8 | HFE2 | 85 | S | P | 0.4803329488 | 0.520886926 | 0.0405539772 | Hemochromatosis type 2A (HFE2A) [MIM:602390]
Q06124 | PTPN11 | 308 | N | S | 0.4666178152 | 0.5057817614 | 0.0391639462 | Noonan syndrome 1 (NS1) [MIM:163950]; Noonan-like syndrome [MIM:163955]
Q06187 | BTK | 61 | I | N | 0.4837351273 | 0.5223471378 | 0.0386120105 | X-linked agammaglobulinemia (XLA) [MIM:300755]
P50747 | HLCS | 550 | V | M | 0.4782940396 | 0.5166782468 | 0.0383842072 | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]
Q9UBP0 | SPAST | 460 | R | C | 0.4900715039 | 0.5276741027 | 0.0376025988000001 | Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
P55268 | LAMB2 | 1380 | N | K | 0.4810142052 | 0.5184316181 | 0.0374174129000001 | Congenital nephrotic syndrome [MIM:609049]
P00492 | HPRT1 | 53 | V | A | 0.4934779789 | 0.5306303153 | 0.0371523364 | Gout [MIM:300323]
P08236 | GUSB | 435 | R | P | 0.4831330009 | 0.5199696828 | 0.0368366819 | Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
Q8WZ42 | TTN | 23515 | A | S | 0.4864663345 | 0.5200266985 | 0.0335603640000001 | A lung squamous cell carcinoma sample
P26367 | PAX6 | 87 | I | K | 0.4799524148 | 0.5117563906 | 0.0318039758 | Aniridia type II (AN2) [MIM:106210]
P46934 | NEDD4 | 308 | Y | H | 0.4928933183 | 0.5242572949 | 0.0313639766 | A breast cancer sample
Q9NZC7 | WWOX | 111 | T | S | 0.4799818391 | 0.5083294285 | 0.0283475894 | A [NAME] lymphoma cell line
Q05066 | SRY | 60 | V | A | 0.4974743344 | 0.525809357 | 0.0283350226 | Gonadal dysgenesis XY female type (GDXY) [MIM:306100]
P23468 | PTPRD | 901 | V | A | 0.4920821783 | 0.5201627865 | 0.0280806082 | A colorectal cancer sample
O95278 | EPM2A | 25 | S | P | 0.4856270888 | 0.5136473811 | 0.0280202923 | Progressive myoclonic epilepsy type 2 (EPM2) [MIM:254780]
Q9BXM7 | PINK1 | 271 | H | Q | 0.48645787 | 0.5143427447 | 0.0278848747 | Autosomal recessive early-onset Parkinson disease 6 (PARK6) [MIM:605909, 168600]
P13645 | KRT10 | 150 | M | R | 0.4840557916 | 0.5105662896 | 0.0265104979999999 | Bullous congenital ichthyosiform erythroderma (BCIE) [MIM:113800]
A3KN83 | SBNO1 | 634 | T | S | 0.4960863935 | 0.5201341115 | 0.024047718 | A breast cancer sample
P14679 | TYR | 253 | G | R | 0.4842706152 | 0.5057610628 | 0.0214904476 | Oculocutaneous albinism type IA (OCA-IA) [MIM:203100]
Q6Q759 | SPAG17 | 1707 | D | E | 0.4873098787 | 0.5012981768 | 0.0139882981 | A colorectal cancer sample