Spreadsheet: 4815062d-2b7b-4961-9b6d-715aab051144
Sheet: Sheet1

UniProt | Gene | Position | Wildtype AA | Mutant AA | Wildtype VLXT | Mutant VLXT | Delta VLXT | Disease annotation
P21359 | NF1 | 665 | S | F | 0.9380939238 | 0.0934924285 | -0.8446014953 | Type 1 neurofibromatosis (NF1) [MIM:162200]
P35222 | CTNNB1 | 37 | S | F | 0.8320537697 | 0.0745778567 | -0.757475913 | Pilomatrixoma (PTR) [MIM:132600]
P04062 | GBA | 224 | L | F | 0.9290124211 | 0.1756267903 | -0.7533856308 | Gaucher disease (GD) [MIM:230800]
P08236 | GUSB | 176 | L | F | 0.8395555796 | 0.0994240611 | -0.7401315185 | Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
[NAME] | NR2E3 | 76 | R | Q | 0.7980797052 | 0.0599053391 | -0.7381743661 | Enhanced S cone syndrome (ESCS) [MIM:268100]
Q9Y223 | GNE | 266 | R | W | 0.9116060422 | 0.1847368719 | -0.7268691703 | Sialuria [MIM:269921]
P04049 | [NAME] | 259 | S | F | 0.9763109764 | 0.2588747501 | -0.7174362263 | Noonan syndrome type 5 (NS5) [MIM:611553]
Q8WZ42 | TTN | 22823 | R | W | 0.878835542 | 0.18995155 | -0.688883992 | A metastatic melanoma sample
Q9Y276 | BCS1L | 114 | R | W | 0.8709749421 | 0.1955320726 | -0.6754428695 | [NAME] syndrome (BJS) [MIM:262000]
Q8IY17 | PNPLA6 | 929 | R | H | 0.8203216689 | 0.1464885997 | -0.6738330692 | Spastic paraplegia autosomal recessive type 39 (SPG39) [MIM:612020]
[NAME] | NR2E3 | 76 | R | W | 0.7980797052 | 0.1280008827 | -0.6700788225 | Enhanced S cone syndrome (ESCS) [MIM:268100]
O15266 | SHOX | 173 | R | C | 0.8438814641 | 0.1868235916 | -0.6570578725 | [NAME] dyschondrosteosis (LWD) [MIM:127300]
Q7Z333 | SETX | 1294 | R | C | 0.6629142271 | 0.0213453268 | -0.6415689003 | Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]
O75914 | PAK3 | 67 | R | C | 0.7307415186 | 0.103792786 | -0.6269487326 | Mental retardation X-linked type 30 (MRX30) [MIM:300558]
P20807 | CAPN3 | 489 | R | Q | 0.8116633246 | 0.185652723 | -0.6260106016 | Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
Q16595 | FXN | 154 | I | F | 0.923587117 | 0.3033656464 | -0.6202214706 | Friedreich ataxia (FA) [MIM:229300]
P30613 | PKLR | 485 | S | F | 0.8626061589 | 0.2429635503 | -0.6196426086 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P20807 | CAPN3 | 490 | R | Q | 0.7927621274 | 0.1751828457 | -0.6175792817 | Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
[NAME] | KCNE3 | 83 | R | H | 0.805753411 | 0.1898839618 | -0.6158694492 | Periodic paralysis hypokalemic (HOKPP) [MIM:170400]; Thyrotoxic hypokalemic periodic paralysis (TPP) [MIM:188580]
P18074 | ERCC2 | 683 | R | W | 0.9838845338 | 0.3710551275 | -0.6128294063 | Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
Q9NZC9 | SMARCAL1 | 644 | R | W | 0.7305849788 | 0.1179354896 | -0.6126494892 | [NAME] immuno-osseous dysplasia (SIOD) [MIM:242900]
P00747 | PLG | 235 | R | H | 0.803239322 | 0.1915581955 | -0.6116811265 | Ligneous conjunctivitis [MIM:217090]
P10071 | GLI3 | 625 | R | W | 0.6639164726 | 0.0639739313 | -0.5999425413 | [NAME] cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
P25054 | APC | 1348 | R | W | 0.6495492546 | 0.0511413331 | -0.5984079215 | Familial adenomatous polyposis (FAP) [MIM:175100]
O43683 | BUB1 | 492 | S | Y | 0.7816854616 | 0.1885206393 | -0.5931648223 | Colorectal cancer
O75923 | DYSF | 555 | R | W | 0.6670945038 | 0.0761436279 | -0.5909508759 | Limb-girdle muscular dystrophy type 2B (LGMD2B) [MIM:253601]; Miyoshi myopathy (MM) [MIM:254130]
P51608 | MECP2 | 306 | R | C | 0.9614053254 | 0.3731156387 | -0.5882896867 | Rett syndrome (RTT) [MIM:312750]
P35968 | KDR | 275 | R | L | 0.6933522867 | 0.1095317893 | -0.5838204974 | A colorectal cancer sample
P04062 | GBA | 213 | L | F | 0.6513603715 | 0.0705666129 | -0.5807937586 | Gaucher disease (GD) [MIM:230800]
Q8TCZ9 | PKHD1 | 1081 | R | C | 0.6992128428 | 0.1251303288 | -0.574082514 | A colorectal cancer sample
Q9Y276 | BCS1L | 184 | R | C | 0.7585624959 | 0.1871480373 | -0.5714144586 | [NAME] syndrome (BJS) [MIM:262000]
Q12840 | KIF5A | 280 | R | C | 0.6081451845 | 0.0458654074 | -0.5622797771 | Spastic paraplegia type 10 (SPG10) [MIM:604187]
P50402 | EMD | 54 | S | F | 0.7726772439 | 0.2134929268 | -0.5591843171 | X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) [MIM:310300]
P54803 | GALC | 68 | S | F | 0.7775427635 | 0.2195645072 | -0.5579782563 | Leukodystrophy globoid cell (GLD) [MIM:245200]
P21817 | RYR1 | 328 | R | W | 0.8194850744 | 0.2631711519 | -0.5563139225 | Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
P21439 | ABCB4 | 541 | I | F | 0.678558673 | 0.1233231282 | -0.5552355448 | Progressive familial intrahepatic cholestasis type 3 (PFIC3) [MIM:602347]
[NAME] | [NAME] | 440 | R | Q | 0.6376171449 | 0.0826933041 | -0.5549238408 | Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
P98161 | [NAME] | 2408 | R | C | 0.5923491022 | 0.0383764258 | -0.5539726764 | Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
P43694 | GATA4 | 52 | S | F | 0.9912966326 | 0.4386128428 | -0.5526837898 | Atrial septal defect type 2 (ASD2) [MIM:607941]
Q60I27 | ALS2CL | 576 | L | F | 0.70294988 | 0.1521052747 | -0.5508446053 | A breast cancer sample
Q9NZC9 | SMARCAL1 | 586 | R | W | 0.8469782276 | 0.2982813226 | -0.548696905 | [NAME] immuno-osseous dysplasia (SIOD) [MIM:242900]
Q9UBM7 | DHCR7 | 362 | R | C | 0.7828410421 | 0.2347512566 | -0.5480897855 | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
O75161 | NPHP4 | 1192 | R | W | 0.6782152228 | 0.1336147593 | -0.5446004635 | Nephronophthisis type 4 (NPHP4) [MIM:606966]
Q9Y276 | BCS1L | 183 | R | H | 0.8068585441 | 0.2624861484 | -0.5443723957 | [NAME] syndrome (BJS) [MIM:262000]
P35499 | SCN4A | 1135 | R | H | 0.8814857986 | 0.3444592344 | -0.5370265642 | Periodic paralysis hypokalemic (HOKPP) [MIM:170400]
P33897 | ABCD1 | 401 | R | W | 0.6406077905 | 0.1037265236 | -0.5368812669 | Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
Q5HYA8 | TMEM67 | 545 | G | E | 0.6807690862 | 0.1517056773 | -0.5290634089 | [NAME] syndrome type 6 (JBTS6) [MIM:610688]
P08559 | PDHA1 | 72 | R | C | 0.7327869947 | 0.2045700129 | -0.5282169818 | Pyruvate decarboxylase E1 component deficiency ([NAME] deficiency) [MIM:312170]
P30613 | PKLR | 426 | R | W | 0.6466174298 | 0.121493839 | -0.5251235908 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P16144 | ITGB4 | 1281 | R | W | 0.6529287281 | 0.13266679 | -0.5202619381 | Epidermolysis bullosa letalis with pyloric atresia (EB-PA) [MIM:226730]
P25445 | FAS | 260 | D | Y | 0.6553429039 | 0.138164667 | -0.5171782369 | Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
Q14896 | MYBPC3 | 501 | R | W | 0.5455169203 | 0.0321308793 | -0.513386041 | Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]
Q13813 | SPTAN1 | 1794 | R | W | 0.6045277235 | 0.0923989743 | -0.5121287492 | A breast cancer sample
Q14687 | GSE1 | 627 | R | W | 0.7894688838 | 0.278714561 | -0.5107543228 | A colorectal cancer sample
O43602 | DCX | 259 | R | C | 0.6676291852 | 0.1579804448 | -0.5096487404 | Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
Q9Y223 | GNE | 263 | R | L | 0.8263218878 | 0.3185452273 | -0.5077766605 | Sialuria [MIM:269921]
P20823 | HNF1A | 271 | R | W | 0.5377584269 | 0.0308197509 | -0.506938676 | Maturity onset diabetes of the young type 3 ([NAME]) [MIM:600496]
P15918 | RAG1 | 975 | R | W | 0.9404978732 | 0.4357994024 | -0.5046984708 | Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]
P04070 | PROC | 220 | R | W | 0.7800005038 | 0.2781371048 | -0.501863399 | Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]
P00740 | F9 | 43 | R | W | 0.5071575654 | 0.0062841738 | -0.5008733916 | Recessive X-linked hemophilia B (HEMB) [MIM:306900]
P22304 | IDS | 468 | R | W | 0.6347463026 | 0.1340095275 | -0.5007367751 | Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
P04070 | PROC | 272 | R | C | 0.5433834989 | 0.0426642562 | -0.5007192427 | Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]
Q9H792 | SGK269 | 1035 | S | F | 0.8686268375 | 0.3689630393 | -0.4996637982 | A metastatic melanoma sample
P20823 | HNF1A | 272 | R | H | 0.5617037644 | 0.0635934858 | -0.4981102786 | Insulin-dependent diabetes mellitus (IDDM) [MIM:222100]; Maturity onset diabetes of the young type 3 ([NAME]) [MIM:600496]
P51587 | BRCA2 | 2502 | R | H | 0.9414607408 | 0.4439888556 | -0.4974718852 | Ovarian cancer
P51608 | MECP2 | 306 | R | H | 0.9614053254 | 0.4665540857 | -0.4948512397 | Rett syndrome (RTT) [MIM:312750]
P00740 | F9 | 46 | R | T | 0.5914794568 | 0.0974492294 | -0.4940302274 | Recessive X-linked hemophilia B (HEMB) [MIM:306900]
Q9NZB8 | MOCS1 | 123 | R | W | 0.6722048611 | 0.1790647517 | -0.4931401094 | Molybdenum cofactor deficiency type A (MOCOD type A) [MIM:252150]
Q99814 | EPAS1 | 537 | G | W | 0.6959265404 | 0.2037520327 | -0.4921745077 | Erythrocytosis familial type 4 (ECYT4) [MIM:611783]
Q17RS7 | GEN1 | 275 | R | L | 0.5854853455 | 0.0995207674 | -0.4859645781 | A breast cancer sample
P04070 | PROC | 220 | R | Q | 0.7800005038 | 0.294242306 | -0.4857581978 | Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]
P10644 | PRKAR1A | 289 | G | W | 0.6243108111 | 0.1386381892 | -0.4856726219 | Carney complex type 1 (CNC1) [MIM:160980]
P23508 | MCC | 506 | R | Q | 0.7398307616 | 0.2547235755 | -0.4851071861 | Colorectal cancer
Q96MT3 | PRICKLE1 | 104 | R | Q | 0.6254647449 | 0.1423476694 | -0.4831170755 | Progressive myoclonic epilepsy type 1B (EPM1B) [MIM:612437]
P01008 | SERPINC1 | 56 | R | C | 0.8041077194 | 0.3243535791 | -0.4797541403 | [NAME] deficiency (AT3D) [MIM:107300]
Q16518 | RPE65 | 515 | R | W | 0.720947027 | 0.2436850482 | -0.4772619788 | Retinitis pigmentosa type 20 (RP20) [MIM:180069]
P49748 | [NAME] | 218 | E | K | 0.6150275852 | 0.1391968682 | -0.475830717 | Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency) [MIM:201475]
P55017 | SLC12A3 | 852 | R | C | 0.8869760443 | 0.4117890249 | -0.4751870194 | [NAME] syndrome (GS) [MIM:263800]
P35222 | CTNNB1 | 33 | S | F | 0.5098938369 | 0.0352934872 | -0.4746003497 | Medulloblastoma (MDB) [MIM:155255]; Pilomatrixoma (PTR) [MIM:132600]
P17661 | DES | 454 | R | W | 0.7337148518 | 0.2623103439 | -0.4714045079 | [NAME]-related cardio-skeletal myopathy (CSM) [MIM:601419]
P00740 | F9 | 46 | R | S | 0.5914794568 | 0.120985212 | -0.4704942448 | Recessive X-linked hemophilia B (HEMB) [MIM:306900]
Q13515 | BFSP2 | 287 | R | W | 0.7294071594 | 0.2611462274 | -0.468260932 | Autosomal dominant multiple types cataract type 1 [MIM:611597]
P08686 | CYP21A2 | 124 | R | H | 0.5692810591 | 0.1031680044 | -0.4661130547 | Adrenal hyperplasia type 3 (AH3) [MIM:201910]
Q92781 | RDH5 | 280 | R | H | 0.5715378006 | 0.1066520776 | -0.464885723 | Fundus albipunctatus (FA) [MIM:136880]
P10912 | GHR | 229 | R | H | 0.9220014266 | 0.4577973441 | -0.4642040825 | Short stature [MIM:604271]
Q6NT55 | CYP4F22 | 372 | R | W | 0.7909394846 | 0.3293884599 | -0.4615510247 | Ichthyosis lamellar type 3 (LI3) [MIM:604777]
Q8NFG4 | FLCN | 79 | S | W | 0.7161097839 | 0.2549780839 | -0.4611317 | A sporadic colorectal carcinoma
Q06124 | PTPN11 | 502 | R | W | 0.6212256555 | 0.1604354387 | -0.4607902168 | LEOPARD syndrome [MIM:151100]
P37058 | HSD17B3 | 80 | R | W | 0.5868567551 | 0.1275282303 | -0.4593285248 | Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
Q9BSV6 | TSEN34 | 58 | R | W | 0.7592450903 | 0.3010171639 | -0.4582279264 | Pontocerebellar [NAME] type 2C (PCH2C) [MIM:612390]
P04792 | HSPB1 | 127 | R | W | 0.5934608064 | 0.1356985049 | -0.4577623015 | Distal hereditary motor neuronopathy type 2B (HMN2B) [MIM:608634]
P51608 | MECP2 | 453 | R | Q | 0.8551322911 | 0.3979385419 | -0.4571937492 | Mental retardation syndromic X-linked type 13 (MRXS13) [MIM:300055]
P49746 | THBS3 | 955 | R | G | 0.7130131011 | 0.2571214757 | -0.4558916254 | A breast cancer sample
P19544 | WT1 | 394 | R | L | 0.5087583727 | 0.0542031492 | -0.4545552235 | Wilms tumor 1 (WT1) [MIM:194070]
Q9Y6H5 | SNCAIP | 621 | R | C | 0.8160557595 | 0.3636253555 | -0.452430404 | Parkinson disease (PD) [MIM:168600]
P04062 | GBA | 232 | G | E | 0.7101376088 | 0.25833793 | -0.4517996788 | Gaucher disease (GD) [MIM:230800]
Q13402 | MYO7A | 756 | R | W | 0.5542228202 | 0.1041328379 | -0.4500899823 | Usher syndrome type 1B (USH1B) [MIM:276900]
Q76LX8 | ADAMTS13 | 390 | W | C | 0.7360896501 | 0.2883332949 | -0.4477563552 | Congenital thrombotic thrombocytopenic purpura (TTP) [MIM:274150]
A6NFY7 | SDHAF1 | 55 | R | P | 0.8965586506 | 0.4490416109 | -0.4475170397 | SDH-defective infantile leukoencephalopathy
P20823 | HNF1A | 203 | R | C | 0.9332470573 | 0.4870617523 | -0.446185305 | Maturity onset diabetes of the young type 3 ([NAME]) [MIM:600496]
P00740 | F9 | 43 | R | L | 0.5071575654 | 0.0613165877 | -0.4458409777 | Recessive X-linked hemophilia B (HEMB) [MIM:306900]
Q9H165 | BCL11A | 142 | S | F | 0.579334324 | 0.1339553635 | -0.4453789605 | A breast cancer sample
P08686 | CYP21A2 | 341 | R | W | 0.6158041514 | 0.1704826472 | -0.4453215042 | Adrenal hyperplasia type 3 (AH3) [MIM:201910]
Q9UIJ5 | ZDHHC2 | 306 | S | F | 0.8009416163 | 0.3580654269 | -0.4428761894 | Hepatocellular carcinoma
Q14896 | MYBPC3 | 501 | R | Q | 0.5455169203 | 0.1029307854 | -0.4425861349 | Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]
Q9BXC9 | BBS2 | 643 | R | H | 0.6563939714 | 0.2145166111 | -0.4418773603 | [NAME] syndrome type 2 (BBS2) [MIM:209900]
P54802 | NAGLU | 79 | G | C | 0.7968634651 | 0.3562854461 | -0.440578019 | Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
P19544 | WT1 | 394 | R | Q | 0.5087583727 | 0.0683803384 | -0.4403780343 | Denys-Drash syndrome (DDS) [MIM:194080]
P58012 | FOXL2 | 69 | E | K | 0.6178092266 | 0.178560608 | -0.4392486186 | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P08397 | HMBS | 335 | G | D | 0.735873172 | 0.2982056363 | -0.4376675357 | Acute intermittent porphyria (AIP) [MIM:176000]
P46019 | PHKA2 | 1125 | E | K | 0.5787789605 | 0.1414126245 | -0.437366336 | Glycogen storage disease type 9A (GSD9A) [MIM:306000]
P52701 | MSH6 | 1193 | E | K | 0.7029795838 | 0.2660311038 | -0.43694848 | Endometrial cancer [MIM:608089]
P08603 | CFH | 1210 | R | C | 0.5293115262 | 0.0931496599 | -0.4361618663 | Complement factor H deficiency (CFH deficiency) [MIM:609814]
P55291 | CDH15 | 92 | R | W | 0.5104984636 | 0.0757447506 | -0.434753713 | Mental retardation autosomal dominant type 3 (MRD3) [MIM:612580]
P48728 | AMT | 320 | R | H | 0.7643903767 | 0.3307900269 | -0.4336003498 | Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P00533 | EGFR | 748 | R | P | 0.6260160385 | 0.1927386805 | -0.433277358 | Lung cancer [MIM:211980]
Q92838 | EDA | 255 | G | C | 0.6196725016 | 0.1865293616 | -0.43314314 | Ectodermal dysplasia, type 1 (ED1) [MIM:305100]
O96017 | CHEK2 | 181 | R | C | 0.5692352185 | 0.1363294586 | -0.4329057599 | Prostate cancer
Q9UBM7 | DHCR7 | 450 | R | L | 0.6890636137 | 0.2588905142 | -0.4301730995 | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9Y223 | GNE | 266 | R | Q | 0.9116060422 | 0.4819256408 | -0.4296804014 | Sialuria [MIM:269921]
Q9BXW9 | FANCD2 | 302 | R | W | 0.6275750057 | 0.1980603286 | -0.4295146771 | Fanconi anemia (FA) [MIM:227650]
P30613 | PKLR | 486 | R | W | 0.8846324743 | 0.4551886764 | -0.4294437979 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P38398 | BRCA1 | 1217 | S | Y | 0.8251991933 | 0.3967890006 | -0.4284101927 | Breast cancer (BC) [MIM:113705, 114480]; Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370]
P15848 | ARSB | 312 | W | C | 0.6416859002 | 0.2134863494 | -0.4281995508 | Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
P51798 | CLCN7 | 261 | I | F | 0.5989904979 | 0.1712149438 | -0.4277755541 | Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
Q16595 | FXN | 165 | R | C | 0.5384860546 | 0.1129505122 | -0.4255355424 | Friedreich ataxia (FA) [MIM:229300]
[NAME] | GRM1 | 696 | R | W | 0.9207075294 | 0.4954985213 | -0.4252090081 | A colorectal cancer sample
P19544 | WT1 | 394 | R | P | 0.5087583727 | 0.0852760926 | -0.4234822801 | Denys-Drash syndrome (DDS) [MIM:194080]
O43602 | DCX | 259 | R | L | 0.6676291852 | 0.2451740258 | -0.4224551594 | Subcortical band heterotopia X-linked (SBHX) [MIM:300067]
P00966 | ASS1 | 307 | R | C | 0.5827315946 | 0.1608058349 | -0.4219257597 | Citrullinemia type 1 (CTLN1) [MIM:215700]
P00966 | ASS1 | 191 | E | K | 0.5562722791 | 0.134818721 | -0.4214535581 | Citrullinemia type 1 (CTLN1) [MIM:215700]
P09417 | [NAME] | 145 | P | L | 0.6388020335 | 0.2201981623 | -0.4186038712 | BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
Q13402 | MYO7A | 853 | R | C | 0.6622606526 | 0.2445581589 | -0.4177024937 | Non-syndromic sensorineural deafness autosomal dominant type 11 (DFNA11) [MIM:601317]
P17661 | DES | 406 | R | W | 0.6532619289 | 0.2368981834 | -0.4163637455 | [NAME]-related cardio-skeletal myopathy (CSM) [MIM:601419]
P00740 | F9 | 43 | R | Q | 0.5071575654 | 0.0912393451 | -0.4159182203 | Recessive X-linked hemophilia B (HEMB) [MIM:306900]
P15924 | DSP | 2366 | R | C | 0.5215899179 | 0.1059715065 | -0.4156184114 | Skin fragility-woolly hair syndrome (SFWHS) [MIM:607655]
P20807 | CAPN3 | 567 | G | W | 0.5768900061 | 0.1627097832 | -0.4141802229 | Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
P32004 | L1CAM | 386 | R | C | 0.5249951389 | 0.1110437582 | -0.4139513807 | Hydrocephalus due to stenosis of the aqueduct of [NAME] (HSAS) [MIM:307000]
Q96S38 | RPS6KC1 | 1022 | E | K | 0.749740385 | 0.3379646961 | -0.4117756889 | A breast infiltrating ductal carcinoma sample
Q8TAM1 | BBS10 | 49 | R | W | 0.5319577581 | 0.1210040844 | -0.4109536737 | [NAME] syndrome type 10 (BBS10) [MIM:209900]
P20807 | CAPN3 | 226 | E | K | 0.5958276049 | 0.1867332314 | -0.4090943735 | Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
P03891 | MT-ND2 | 150 | N | D | 0.7541593059 | 0.3469954834 | -0.4071638225 | Leber hereditary optic neuropathy (LHON) [MIM:535000]
Q8N302 | AGGF1 | 133 | E | K | 0.7027458334 | 0.2956853349 | -0.4070604985 | Klippel-Trenaunay syndrome (KTS) [MIM:149000]
P38398 | BRCA1 | 227 | E | K | 0.552776863 | 0.1467453745 | -0.4060314885 | Ovarian cancer [MIM:113705]
P16219 | ACADS | 107 | R | C | 0.599256789 | 0.1935110561 | -0.4057457329 | Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) [MIM:201470]
P21333 | FLNA | 172 | L | F | 0.7940935242 | 0.3888880145 | -0.4052055097 | Otopalatodigital syndrome type 1 (OPD1) [MIM:311300]
P38398 | BRCA1 | 835 | H | Y | 0.6571772672 | 0.2549526146 | -0.4022246526 | Familial breast-ovarian cancer type 1 (BROVCA1) [MIM:604370]
P05106 | ITGB3 | 119 | R | W | 0.5341356202 | 0.1320186532 | -0.402116967 | Glanzmann thrombasthenia (GT) [MIM:273800]
Q96QS3 | ARX | 332 | R | H | 0.7884724792 | 0.3868237572 | -0.401648722 | [NAME] type 2 (LISX2) [MIM:300215]
P20807 | CAPN3 | 493 | R | W | 0.7561411361 | 0.3574332186 | -0.3987079175 | Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
P08236 | GUSB | 606 | K | N | 0.6324250321 | 0.233832322 | -0.3985927101 | Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
P05093 | CYP17A1 | 496 | R | H | 0.5304542128 | 0.132685336 | -0.3977688768 | Adrenal hyperplasia type 5 (AH5) [MIM:202110]
P40337 | VHL | 167 | R | W | 0.6213189159 | 0.2236890629 | -0.397629853 | [NAME] disease (VHLD) [MIM:193300]; Pheochromocytoma [MIM:171300]
P82987 | ADAMTSL3 | 855 | R | C | 0.6521413173 | 0.2549606278 | -0.3971806895 | A colorectal cancer sample
[NAME] | MYO18B | 1708 | E | K | 0.6161068319 | 0.2189339851 | -0.3971728468 | Lung adenocarcinoma
Q12809 | [NAME] | 176 | R | W | 0.6235513866 | 0.2276974065 | -0.3958539801 | Long QT syndrome type 2 (LQT2) [MIM:152427]
Q8WZA1 | POMGNT1 | 265 | R | H | 0.8834462385 | 0.4876308765 | -0.395815362 | Muscle-eye-brain disease (MEB) [MIM:253280]
P51787 | KCNQ1 | 190 | R | Q | 0.6951000339 | 0.2999300077 | -0.3951700262 | Long QT syndrome type 1 (LQT1) [MIM:192500]
P17661 | DES | 2 | S | I | 0.7784579135 | 0.3834919705 | -0.394965943 | [NAME]-related cardio-skeletal myopathy (CSM) [MIM:601419]
P08397 | HMBS | 26 | R | C | 0.8849364856 | 0.4922801363 | -0.3926563493 | Acute intermittent porphyria (AIP) [MIM:176000]
Q9NRP7 | STK36 | 660 | S | C | 0.7603492592 | 0.3686358753 | -0.3917133839 | A breast pleomorphic lobular carcinoma sample
P26367 | PAX6 | 128 | R | C | 0.6876301805 | 0.2961640694 | -0.3914661111 | Foveal hypoplasia [MIM:136520]
P08236 | GUSB | 150 | E | K | 0.5756079468 | 0.1841734218 | -0.391434525 | Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
P51587 | BRCA2 | 448 | R | H | 0.7727706797 | 0.3823858915 | -0.3903847882 | Breast cancer (BC) [MIM:612555, 114480]
[NAME] | MMAA | 359 | R | Q | 0.8611711997 | 0.4709090858 | -0.3902621139 | Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
P05166 | PCCB | 165 | R | W | 0.7917765707 | 0.4043225912 | -0.3874539795 | Propionic acidemia type II (PA-2) [MIM:606054]
P55017 | SLC12A3 | 852 | R | H | 0.8869760443 | 0.4998569829 | -0.3871190614 | [NAME] syndrome (GS) [MIM:263800]
Q8WZ42 | TTN | 32411 | R | W | 0.6981354912 | 0.3121078596 | -0.3860276316 | A gastric adenocarcinoma sample
O43826 | SLC37A4 | 149 | G | E | 0.7176387723 | 0.3330182279 | -0.3846205444 | Glycogen storage disease type 1B (GSD1B) [MIM:232220]
O60828 | PQBP1 | 224 | R | W | 0.6163649143 | 0.2318011153 | -0.384563799 | A colorectal cancer sample
O76082 | SLC22A5 | 467 | S | C | 0.7492724411 | 0.3649215683 | -0.3843508728 | Systemic primary carnitine deficiency (CDSP) [MIM:212140]
P05186 | ALPL | 452 | E | K | 0.6918067314 | 0.3086742309 | -0.3831325005 | Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]; Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]; Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
P22557 | ALAS2 | 452 | R | C | 0.830479371 | 0.4475010155 | -0.3829783555 | Anemia sideroblastic X-linked (XLSA) [MIM:300751]
P55017 | SLC12A3 | 186 | G | D | 0.7579693571 | 0.3757556656 | -0.3822136915 | [NAME] syndrome (GS) [MIM:263800]
P49815 | TSC2 | 1240 | R | W | 0.6147606405 | 0.2330440711 | -0.3817165694 | Tuberous sclerosis complex (TSC) [MIM:191100]
[NAME] | MMAA | 359 | R | G | 0.8611711997 | 0.4808686563 | -0.3803025434 | Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
P04062 | GBA | 234 | G | E | 0.5590693639 | 0.1788400365 | -0.3802293274 | Gaucher disease (GD) [MIM:230800]
P40337 | VHL | 176 | R | W | 0.5096117667 | 0.1320576397 | -0.377554127 | [NAME] disease (VHLD) [MIM:193300]
P35499 | SCN4A | 1132 | R | Q | 0.8325156325 | 0.4556950591 | -0.3768205734 | Periodic paralysis hypokalemic (HOKPP) [MIM:170400]
Q13315 | ATM | 3008 | R | C | 0.6171143187 | 0.240678264 | -0.3764360547 | [NAME] (AT) [MIM:208900]
P00813 | ADA | 211 | R | C | 0.537225427 | 0.1618630529 | -0.3753623741 | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
P03971 | AMH | 123 | R | W | 0.5312953218 | 0.1566280661 | -0.3746672557 | Persistent Muellerian duct syndrome type 1 (PMDS-1) [MIM:261550]
Q7KZN9 | [NAME] | 217 | R | W | 0.5601492056 | 0.1857922305 | -0.3743569751 | Cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]; Leigh syndrome [MIM:256000]
P00966 | ASS1 | 108 | R | L | 0.5972372275 | 0.2246977599 | -0.3725394676 | Citrullinemia type 1 (CTLN1) [MIM:215700]
P20807 | CAPN3 | 489 | R | W | 0.8116633246 | 0.4395010192 | -0.3721623054 | Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
P22304 | IDS | 469 | P | H | 0.5804317541 | 0.208680356 | -0.3717513981 | Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
P48382 | RFX5 | 149 | R | Q | 0.7488900461 | 0.3790028119 | -0.3698872342 | Bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]
P15104 | GLUL | 324 | R | C | 0.6165025278 | 0.2477147105 | -0.3687878173 | Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
P17813 | ENG | 49 | V | F | 0.6323196224 | 0.2638875735 | -0.3684320489 | Hereditary hemorrhagic telangiectasia type 1 (HHT1) [MIM:187300, 108010]
Q5SZL2 | C6orf204 | 345 | S | F | 0.8297596345 | 0.4616909991 | -0.3680686354 | A breast cancer sample
P00488 | F13A1 | 682 | R | H | 0.7101811714 | 0.3427477136 | -0.3674334578 | F13A deficiency [MIM:134570]
P04062 | GBA | 230 | V | E | 0.8550996407 | 0.4893859069 | -0.3657137338 | Gaucher disease (GD) [MIM:230800]
Q76G19 | PDZD4 | 39 | R | C | 0.5669723599 | 0.2016015109 | -0.365370849 | A breast cancer sample
Q9NZC9 | SMARCAL1 | 645 | R | C | 0.7446666034 | 0.3800298125 | -0.3646367909 | [NAME] immuno-osseous dysplasia (SIOD) [MIM:242900]
O15269 | SPTLC1 | 239 | R | W | 0.7375632364 | 0.3737550759 | -0.3638081605 | A breast cancer sample
Q8NFY9 | KBTBD8 | 405 | R | K | 0.5026007058 | 0.1389672085 | -0.3636334973 | A breast cancer sample
Q8TCZ9 | PKHD1 | 739 | P | L | 0.7593147948 | 0.3968718099 | -0.3624429849 | Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
P45381 | ASPA | 186 | V | F | 0.6282624259 | 0.2670872156 | -0.3611752103 | Canavan disease (CAND) [MIM:271900]
Q3SY77 | UGT3A2 | 515 | R | H | 0.5401265033 | 0.1795960453 | -0.360530458 | A colorectal cancer sample
[NAME] | PIGA | 19 | R | W | 0.8167312064 | 0.4565550554 | -0.360176151 | Paroxysmal nocturnal hemoglobinuria (PNH) [MIM:311770]
Q9GZX3 | CHST6 | 205 | R | L | 0.6681560294 | 0.3081411205 | -0.3600149089 | Macular corneal dystrophy (MCD) [MIM:217800]
Q16512 | PKN1 | 185 | R | C | 0.5542376318 | 0.1946027934 | -0.3596348384 | A metastatic melanoma sample
[NAME] | CFTR | 31 | R | L | 0.5918373768 | 0.2374221119 | -0.3544152649 | Cystic fibrosis (CF) [MIM:219700]
P04150 | NR3C1 | 477 | R | H | 0.7499517936 | 0.3964202498 | -0.3535315438 | Glucocorticoid resistance [MIM:138040]
P15313 | ATP6V1B1 | 346 | P | R | 0.7571608863 | 0.4038006793 | -0.353360207 | Distal renal tubular acidosis with deafness (dRTA) [MIM:267300]
O96017 | CHEK2 | 181 | R | H | 0.5692352185 | 0.2160951251 | -0.3531400934 | Prostate cancer
P35222 | CTNNB1 | 37 | S | C | 0.8320537697 | 0.4800556042 | -0.3519981655 | Ovarian cancer [MIM:167000]; Pilomatrixoma (PTR) [MIM:132600]
Q13253 | NOG | 48 | E | K | 0.6691253367 | 0.318858326 | -0.3502670107 | Brachydactyly type B2 (BDB2) [MIM:611377]
Q9Y6K9 | IKBKG | 319 | R | Q | 0.7174922218 | 0.3672260254 | -0.3502661964 | X-linked familial atypical micobacteriosis type 1 (AMCBX1) [MIM:300636]
P05186 | ALPL | 108 | P | L | 0.5830659019 | 0.2329445994 | -0.3501213025 | Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]; Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]; Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
P37023 | ACVRL1 | 374 | R | W | 0.6568003127 | 0.3067315989 | -0.3500687138 | Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
P20807 | CAPN3 | 572 | R | W | 0.7550047189 | 0.4057964113 | -0.3492083076 | Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
P50542 | PEX5 | 600 | S | W | 0.5059916814 | 0.1569014808 | -0.3490902006 | Infantile Refsum disease (IRD) [MIM:266510]
P01008 | SERPINC1 | 79 | R | C | 0.6536607201 | 0.305601525 | -0.3480591951 | [NAME] deficiency (AT3D) [MIM:107300]
P51460 | INSL3 | 93 | P | L | 0.6627164515 | 0.3157883672 | -0.3469280843 | Cryptorchidism [MIM:219050]
P05093 | CYP17A1 | 496 | R | C | 0.5304542128 | 0.1844147681 | -0.3460394447 | Adrenal hyperplasia type 5 (AH5) [MIM:202110]
P38935 | IGHMBP2 | 603 | R | H | 0.5540742471 | 0.2081411564 | -0.3459330907 | Distal hereditary motor [NAME] 6 (HMN6) [MIM:604320]
O75398 | [NAME] | 356 | E | H | 0.6887284629 | 0.3430473721 | -0.3456810908 | A primary colorectal cancer
Q15067 | ACOX1 | 178 | G | C | 0.7733737933 | 0.4282682339 | -0.3451055594 | Adrenoleukodystrophy pseudoneonatal ([NAME]) [MIM:264470]
P20807 | CAPN3 | 490 | R | W | 0.7927621274 | 0.4484696593 | -0.3442924681 | Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
[NAME] | TP63 | 343 | R | Q | 0.6083779346 | 0.2645018544 | -0.3438760802 | Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
Q96L34 | MARK4 | 418 | R | C | 0.5245402928 | 0.1824378189 | -0.3421024739 | A colorectal adenocarcinoma sample
P30613 | PKLR | 385 | R | W | 0.8137666305 | 0.4720796688 | -0.3416869617 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P81172 | HAMP | 59 | R | G | 0.58348292 | 0.245719362 | -0.337763558 | Hemochromatosis type 2B (HFE2B) [MIM:602390]
Q9BUP3 | HTATIP2 | 108 | D | Y | 0.5272570641 | 0.1901582651 | -0.337098799 | Hepatocellular carcinoma
P61916 | NPC2 | 47 | C | F | 0.5974066786 | 0.2612123472 | -0.3361943314 | Niemann-Pick disease type C2 (NPC2) [MIM:607625]
Q9UBP0 | SPAST | 562 | R | Q | 0.704832441 | 0.3707992366 | -0.3340332044 | Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
P09874 | PARP1 | 488 | E | V | 0.5563742114 | 0.223906637 | -0.3324675744 | A breast cancer sample
Q13751 | [NAME] | 210 | E | K | 0.5179328331 | 0.1857654885 | -0.3321673446 | Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
P15289 | ARSA | 82 | P | L | 0.8029846495 | 0.4708268002 | -0.3321578493 | Leukodystrophy metachromatic (MLD) [MIM:250100]
P30613 | PKLR | 130 | S | Y | 0.7294379522 | 0.3993058675 | -0.3301320847 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P41181 | AQP2 | 64 | G | R | 0.5035456821 | 0.1735710889 | -0.3299745932 | Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
P04424 | ASL | 456 | R | W | 0.5910582051 | 0.2634156258 | -0.3276425793 | Arginosuccinicaciduria (ARGINSA) [MIM:207900]
Q9UBP0 | SPAST | 562 | R | G | 0.704832441 | 0.3777967735 | -0.3270356675 | Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
Q9UMD9 | COL17A1 | 265 | S | C | 0.59860305 | 0.271746074 | -0.326856976 | Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
P42898 | MTHFR | 357 | R | C | 0.6651288576 | 0.339706228 | -0.3254226296 | Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
Q8NFD2 | ANKK1 | 347 | K | T | 0.7638857224 | 0.4385674252 | -0.3253182972 | A breast infiltrating ductal carcinoma sample
Q96CV9 | OPTN | 545 | R | Q | 0.5417033515 | 0.2165171404 | -0.3251862111 | Primary open angle glaucoma type 1E (GLC1E) [MIM:137760]
O15305 | PMM2 | 141 | R | C | 0.665719958 | 0.3405596748 | -0.3251602832 | Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
O95255 | ABCC6 | 765 | R | Q | 0.6815904441 | 0.3587005578 | -0.3228898863 | Pseudoxanthoma elasticum (PXE) [MIM:264800]
Q99959 | PKP2 | 140 | S | F | 0.7949883536 | 0.4755316606 | -0.319456693 | Familial arrhythmogenic right ventricular dysplasia 9 (ARVD9) [MIM:609040]
P00747 | PLG | 374 | V | F | 0.6640319141 | 0.3445923476 | -0.3194395665 | Thrombophilia [MIM:188050]
Q00604 | NDP | 104 | K | Q | 0.5337223854 | 0.2146162253 | -0.3191061601 | Norrie disease (ND) [MIM:310600]
Q13402 | MYO7A | 1883 | R | Q | 0.7228546447 | 0.4040284318 | -0.3188262129 | Usher syndrome type 1B (USH1B) [MIM:276900]
Q13402 | MYO7A | 1327 | E | K | 0.6258240039 | 0.3071855705 | -0.3186384334 | Usher syndrome type 1B (USH1B) [MIM:276900]
P11217 | PYGM | 655 | E | K | 0.545639004 | 0.2279210523 | -0.3177179517 | Glycogen storage disease type 5 (GSD5) [MIM:232600]
P07225 | PROS1 | 40 | R | L | 0.7823455614 | 0.4649224468 | -0.3174231146 | Protein S deficiency (PROS1D) [MIM:612336]
[NAME] | TP63 | 243 | R | W | 0.6207032113 | 0.3033982957 | -0.3173049156 | Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
P04062 | GBA | 215 | A | D | 0.8026783305 | 0.4861482367 | -0.3165300938 | Gaucher disease (GD) [MIM:230800]
P35625 | TIMP3 | 204 | S | C | 0.6176292527 | 0.3021122021 | -0.3155170506 | [NAME] fundus dystrophy (SFD) [MIM:136900]
P37023 | ACVRL1 | 479 | R | L | 0.5381434314 | 0.2227182105 | -0.3154252209 | Hereditary hemorrhagic telangiectasia type 2 (HHT2) [MIM:600376]
Q9UBP0 | SPAST | 551 | A | Y | 0.5339741317 | 0.2186361148 | -0.3153380169 | Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
O75398 | [NAME] | 449 | E | K | 0.6368052358 | 0.3220054175 | -0.3147998183 | A primary colorectal cancer
P16473 | TSHR | 310 | R | C | 0.6904356311 | 0.3761776929 | -0.3142579382 | Congenital hypothyroidism non-goitrous type 1 (CHNG1) [MIM:275200]
P26367 | PAX6 | 125 | R | C | 0.5656960908 | 0.2520483525 | -0.3136477383 | Foveal hypoplasia [MIM:136520]
Q13402 | MYO7A | 241 | R | C | 0.5508788604 | 0.2384183033 | -0.3124605571 | Usher syndrome type 1B (USH1B) [MIM:276900]
Q9UBF9 | MYOT | 95 | S | I | 0.7080356074 | 0.3958453634 | -0.312190244 | Myotilinopathy [MIM:609200]
Q92834 | RPGR | 285 | E | G | 0.5970760378 | 0.2858646943 | -0.3112113435 | Retinitis pigmentosa type 3 (RP3) [MIM:300389]
Q05066 | SRY | 62 | R | G | 0.5331312118 | 0.2220753642 | -0.3110558476 | Gonadal dysgenesis XY female type (GDXY) [MIM:306100]
P20823 | HNF1A | 205 | K | Q | 0.7377112253 | 0.4268266079 | -0.3108846174 | Maturity onset diabetes of the young type 3 ([NAME]) [MIM:600496]
Q9H4A3 | [NAME] | 2190 | S | C | 0.5640902199 | 0.2535730999 | -0.31051712 | A breast pleomorphic lobular carcinoma sample
Q9UNH5 | CDC14A | 493 | D | Y | 0.6990690196 | 0.3896418249 | -0.3094271947 | A colorectal cancer sample
P54802 | NAGLU | 452 | E | K | 0.7247531357 | 0.4153940932 | -0.3093590425 | Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
Q9HBX8 | [NAME] | 725 | G | C | 0.5229997311 | 0.213711178 | -0.3092885531 | A colorectal cancer sample
P55084 | HADHB | 247 | R | H | 0.639289546 | 0.3305945518 | -0.3086949942 | Trifunctional protein deficiency (TFP deficiency) [MIM:609015]
P22033 | MUT | 621 | K | N | 0.7791522528 | 0.470817665 | -0.3083345878 | Methylmalonic aciduria type mut (MMAM) [MIM:251000]
P00813 | ADA | 211 | R | H | 0.537225427 | 0.2289760715 | -0.3082493555 | Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
Q96P20 | NLRP3 | 859 | Y | C | 0.5129645753 | 0.2052243536 | -0.3077402217 | Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115]
Q9UI10 | EIF2B4 | 357 | R | Q | 0.5077402192 | 0.2012464562 | -0.306493763 | Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q8NG66 | NEK11 | 492 | E | K | 0.721503989 | 0.4157628196 | -0.3057411694 | A colorectal adenocarcinoma sample
[NAME] | CFTR | 50 | S | Y | 0.7414317478 | 0.4358707205 | -0.3055610273 | Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
Q9GZX3 | CHST6 | 205 | R | Q | 0.6681560294 | 0.3636597703 | -0.3044962591 | Macular corneal dystrophy (MCD) [MIM:217800]
P43246 | MSH2 | 393 | K | M | 0.5736562919 | 0.2697567329 | -0.303899559 | Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
P30566 | ADSL | 374 | R | W | 0.5366168331 | 0.233482241 | -0.3031345921 | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P54802 | NAGLU | 521 | P | L | 0.7615278618 | 0.459139692 | -0.3023881698 | Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
Q9Y6X0 | SETBP1 | 1108 | R | W | 0.5034630043 | 0.2016042939 | -0.3018587104 | A colorectal cancer sample
P19544 | WT1 | 394 | R | W | 0.5087583727 | 0.2071936224 | -0.3015647503 | Denys-Drash syndrome (DDS) [MIM:194080]; Meacham syndrome [MIM:608978]; Wilms tumor 1 (WT1) [MIM:194070]
O14827 | RASGRF2 | 114 | R | H | 0.7190026401 | 0.4189331788 | -0.3000694613 | A colorectal cancer sample
Q13315 | ATM | 3008 | R | H | 0.6171143187 | 0.3177973155 | -0.2993170032 | B-cell chronic lymphocytic leukemia (BCLL)
Q8NAP8 | ZBTB8B | 181 | E | K | 0.7135995622 | 0.4148373296 | -0.2987622326 | A colorectal cancer sample
P15848 | ARSB | 315 | R | Q | 0.738587136 | 0.4409389605 | -0.2976481755 | Mucopolysaccharidosis type 6 (MPS6) [MIM:253200]
P08237 | PFKM | 686 | W | C | 0.5713271647 | 0.2755992056 | -0.2957279591 | Glycogen storage disease type 7 (GSD7) [MIM:232800]
P80365 | HSD11B2 | 337 | R | C | 0.5074807772 | 0.2120634778 | -0.2954172994 | Apparent mineralocorticoid excess (AME) [MIM:218030]
P01008 | SERPINC1 | 79 | R | H | 0.6536607201 | 0.3587891975 | -0.2948715226 | [NAME] deficiency (AT3D) [MIM:107300]
P43246 | MSH2 | 622 | P | L | 0.6635937037 | 0.3689717548 | -0.2946219489 | Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
O75445 | USH2A | 1059 | P | L | 0.7261065927 | 0.4327588736 | -0.2933477191 | Usher syndrome type 2A (USH2A) [MIM:276901]
Q7Z333 | SETX | 332 | R | W | 0.6716598767 | 0.3785579061 | -0.2931019706 | Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]
P07225 | PROS1 | 545 | E | G | 0.5845365446 | 0.2917916923 | -0.2927448523 | A colorectal cancer sample
P16219 | ACADS | 380 | R | W | 0.5353351592 | 0.2426115017 | -0.2927236575 | Short-chain acyl-CoA dehydrogenase deficiency (SCAD deficiency) [MIM:201470]
P20807 | CAPN3 | 360 | W | C | 0.5808047934 | 0.2890185511 | -0.2917862423 | Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
P80365 | HSD11B2 | 213 | R | C | 0.7784032038 | 0.4879280164 | -0.2904751874 | Apparent mineralocorticoid excess (AME) [MIM:218030]
P00441 | SOD1 | 94 | G | C | 0.6117185542 | 0.3217865774 | -0.2899319768 | Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
P10253 | GAA | 455 | Y | F | 0.6305529707 | 0.3407871693 | -0.2897658014 | Glycogen storage disease type 2 (GSD2) [MIM:232300]
P35520 | CBS | 145 | P | L | 0.7416665698 | 0.4522541443 | -0.2894124255 | Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P51798 | CLCN7 | 249 | P | R | 0.5928239819 | 0.3035246593 | -0.2892993226 | Osteopetrosis autosomal recessive type 4 (OPTB4) [MIM:611490]
O60880 | SH2D1A | 101 | P | L | 0.5341972625 | 0.2458458974 | -0.2883513651 | Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
P08559 | PDHA1 | 288 | R | H | 0.5149780609 | 0.2268229414 | -0.2881551195 | Pyruvate decarboxylase E1 component deficiency ([NAME] deficiency) [MIM:312170]
O14896 | IRF6 | 45 | R | Q | 0.5105326349 | 0.2225940506 | -0.2879385843 | Van der [NAME] syndrome (VWS) [MIM:119300]
Q9UJF2 | RASAL2 | 165 | R | W | 0.6579728303 | 0.3700839798 | -0.2878888505 | A colorectal cancer sample
Q01484 | ANK2 | 3898 | E | K | 0.7086893069 | 0.4210569709 | -0.287632336 | Long QT syndrome type 4 (LQT4) [MIM:600919]
P33897 | ABCD1 | 274 | R | W | 0.7702856293 | 0.4831314737 | -0.2871541556 | Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
P54802 | NAGLU | 334 | V | F | 0.5331970126 | 0.2490871018 | -0.2841099108 | Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
P18887 | XRCC1 | 350 | R | W | 0.5384268016 | 0.2544024299 | -0.2840243717 | A colorectal cancer sample
[NAME] | CDH23 | 1507 | R | Q | 0.5197493873 | 0.2366487165 | -0.2831006708 | Usher syndrome type 1D (USH1D) [MIM:601067]
O15273 | TCAP | 132 | E | Q | 0.7185749467 | 0.4379204556 | -0.2806544911 | [NAME] dilated type 1N (CMD1N) [MIM:607487]
[NAME] | TPI1 | 105 | E | D | 0.5828079992 | 0.3022484475 | -0.2805595517 | Triosephosphate isomerase deficiency (TPI deficiency) [MIM:190450]
P98161 | [NAME] | 4154 | R | C | 0.6968982323 | 0.4180378004 | -0.2788604319 | Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
Q96RR1 | PEO1 | 319 | K | T | 0.5497910449 | 0.2735628154 | -0.2762282295 | Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
Q6P5W5 | SLC39A4 | 95 | R | C | 0.6333002399 | 0.3579293779 | -0.275370862 | Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]
P22304 | IDS | 467 | P | L | 0.6458551326 | 0.3707634418 | -0.2750916908 | Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
P35557 | GCK | 70 | E | K | 0.6605900977 | 0.386210101 | -0.2743799967 | Maturity onset diabetes of the young type 2 (MODY2) [MIM:125851]
P21817 | RYR1 | 177 | R | C | 0.5090935011 | 0.2368539778 | -0.2722395233 | Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
Q16878 | CDO1 | 143 | E | Q | 0.5584649955 | 0.2869879334 | -0.2714770621 | A colorectal cancer sample
Q9HBY8 | SGK2 | 259 | E | K | 0.5740855423 | 0.303456331 | -0.2706292113 | A lung adenocarcinoma sample
P09417 | [NAME] | 158 | H | Y | 0.5567819772 | 0.2868229844 | -0.2699589928 | BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
P05165 | PCCA | 52 | R | W | 0.607960889 | 0.3398062211 | -0.2681546679 | Propionic acidemia type I (PA-1) [MIM:606054]
P21817 | RYR1 | 401 | R | C | 0.6233659771 | 0.3554289101 | -0.267937067 | Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
Q15349 | RPS6KA2 | 732 | R | Q | 0.6136186875 | 0.346167205 | -0.2674514825 | A colorectal adenocarcinoma sample
Q07837 | SLC3A1 | 452 | R | W | 0.7191864486 | 0.452043757 | -0.2671426916 | Cystinuria type I (CSNU1) [MIM:220100]
P49638 | TTPA | 141 | E | K | 0.5660923958 | 0.2989559519 | -0.2671364439 | [NAME] with isolated vitamin E deficiency (AVED) [MIM:277460]
P20823 | HNF1A | 159 | R | Q | 0.7297729617 | 0.4628194952 | -0.2669534665 | Maturity onset diabetes of the young type 3 ([NAME]) [MIM:600496]
P04198 | MYCN | 394 | R | H | 0.6567970004 | 0.3901562919 | -0.2666407085 | Feingold syndrome [MIM:164280]
O15305 | PMM2 | 141 | R | H | 0.665719958 | 0.3993949548 | -0.2663250032 | Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
O43826 | SLC37A4 | 153 | P | L | 0.7444050196 | 0.4781024425 | -0.2663025771 | Glycogen storage disease type 1B (GSD1B) [MIM:232220]
P19113 | HDC | 49 | E | V | 0.7214598531 | 0.4551628301 | -0.266297023 | A colorectal cancer sample
P04156 | PRNP | 200 | E | K | 0.7011662907 | 0.4350464853 | -0.2661198054 | Creutzfeldt-Jakob disease (CJD) [MIM:123400]; High quantity in the brain of humans and animals infected with neurodegenerative diseases known as transmissible spongiform encephalopathies or prion diseases, like: Creutzfeldt-Jakob disease (CJD)
Q9UM01 | SLC7A7 | 5 | T | I | 0.6791591521 | 0.4139963646 | -0.2651627875 | Lysinuric protein intolerance (LPI) [MIM:222700]
Q14896 | MYBPC3 | 450 | E | Q | 0.6630257625 | 0.3988994032 | -0.2641263593 | Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]
Q9Y3A5 | SBDS | 126 | R | T | 0.5035359729 | 0.2395737156 | -0.2639622573 | [NAME] syndrome (SDS) [MIM:260400]
Q02556 | IRF8 | 81 | R | K | 0.6564785119 | 0.3928778692 | -0.2636006427 | A breast cancer sample
P45381 | ASPA | 183 | P | H | 0.713685861 | 0.4507707171 | -0.2629151439 | Canavan disease (CAND) [MIM:271900]
P23109 | AMPD1 | 425 | R | H | 0.5087622419 | 0.2461502172 | -0.2626120247 | Adenosine monophosphate deaminase deficiency muscle type (AMPDDM) [MIM:102770]
Q96J92 | WNK4 | 1185 | R | C | 0.6601079743 | 0.3977492558 | -0.2623587185 | Pseudohypoaldosteronism type II (PHAII) [MIM:145260]
P05165 | PCCA | 398 | P | L | 0.6377248776 | 0.3758359787 | -0.2618888989 | Propionic acidemia type I (PA-1) [MIM:606054]
Q16518 | RPE65 | 91 | R | Q | 0.6200996845 | 0.3583073356 | -0.2617923489 | Leber congenital amaurosis type 2 (LCA2) [MIM:204100]
P14679 | TYR | 361 | S | R | 0.6718030551 | 0.4102062547 | -0.2615968004 | Oculocutaneous albinism type IA (OCA-IA) [MIM:203100]
P51787 | KCNQ1 | 583 | R | C | 0.5894793924 | 0.3280719343 | -0.2614074581 | Long QT syndrome type 1 (LQT1) [MIM:192500]
O14832 | PHYH | 83 | N | Y | 0.5880711312 | 0.3278402355 | -0.2602308957 | Refsum disease (RD) [MIM:266500]
O75360 | PROP1 | 73 | R | C | 0.6418825164 | 0.3817662432 | -0.2601162732 | Combined pituitary hormone deficiency (CPHD) [MIM:601538, 262600]
P04198 | MYCN | 393 | R | H | 0.7196660963 | 0.4598098478 | -0.2598562485 | Feingold syndrome [MIM:164280]
P21817 | RYR1 | 2348 | E | G | 0.5683027568 | 0.3091737426 | -0.2591290142 | Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
P61764 | STXBP1 | 180 | C | Y | 0.5225379693 | 0.2651120923 | -0.257425877 | Epileptic encephalopathy early infantile type 4 (EIEE4) [MIM:612164]
P00441 | SOD1 | 101 | E | K | 0.5150175816 | 0.2597715416 | -0.25524604 | Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
P35222 | CTNNB1 | 33 | S | Y | 0.5098938369 | 0.2561135779 | -0.253780259 | Colorectal cancer (CRC) [MIM:114500]; Pilomatrixoma (PTR) [MIM:132600]
P30613 | PKLR | 498 | R | C | 0.5290887289 | 0.275334953 | -0.2537537759 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P58012 | FOXL2 | 58 | S | L | 0.6559093841 | 0.4022002897 | -0.2537090944 | Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) [MIM:110100]
P23786 | CPT2 | 50 | P | H | 0.6589314939 | 0.4059525945 | -0.2529788994 | Carnitine palmitoyltransferase II deficiency (CPT-II deficiency) [MIM:255110, 600649]; Lethal neonatal carnitine palmitoyltransferase II deficiency (CPT-II deficiency) [MIM:608836]
P05186 | ALPL | 450 | R | C | 0.7053209642 | 0.4529928273 | -0.2523281369 | Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]; Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]; Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
P43246 | MSH2 | 17 | V | F | 0.5305463872 | 0.2784526528 | -0.2520937344 | Gastric cancer
P40692 | MLH1 | 385 | R | C | 0.5210881501 | 0.2694298528 | -0.2516582973 | Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
P04198 | MYCN | 393 | R | S | 0.7196660963 | 0.4683447853 | -0.251321311 | Feingold syndrome [MIM:164280]
[NAME] | CFTR | 42 | S | F | 0.5368511286 | 0.2859346224 | -0.2509165062 | Cystic fibrosis (CF) [MIM:219700]
Q15831 | STK11 | 297 | R | K | 0.5361661511 | 0.2855010496 | -0.2506651015 | Peutz-Jeghers syndrome (PJS) [MIM:175200]
Q8TF17 | SH3TC2 | 657 | E | K | 0.7032035915 | 0.4537802754 | -0.2494233161 | Charcot-Marie-Tooth disease type 4C (CMT4C) [MIM:601596]
P45379 | TNNT2 | 102 | R | W | 0.6063794276 | 0.3572091008 | -0.2491703268 | Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]
Q8TCZ9 | PKHD1 | 1995 | E | G | 0.66550584 | 0.4169065869 | -0.2485992531 | Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
P05093 | CYP17A1 | 428 | P | L | 0.5005014585 | 0.2523476137 | -0.2481538448 | Adrenal hyperplasia type 5 (AH5) [MIM:202110]
Q9ULD2 | MTUS1 | 75 | Q | K | 0.6153812907 | 0.3679356998 | -0.2474455909 | Hepatocellular carcinoma (HCC) [MIM:114550]
P27918 | CFP | 3 | T | I | 0.6692427635 | 0.4227236679 | -0.2465190956 | A breast cancer sample
P54802 | NAGLU | 520 | R | W | 0.7253650021 | 0.4792480298 | -0.2461169723 | Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
P42898 | MTHFR | 335 | R | C | 0.6657468662 | 0.4196346083 | -0.2461122579 | Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]
Q13144 | EIF2B5 | 195 | R | C | 0.6485123297 | 0.4031063656 | -0.2454059641 | Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
P33402 | GUCY1A2 | 681 | E | V | 0.613051195 | 0.368160449 | -0.244890746 | A colorectal cancer sample
Q96A65 | EXOC4 | 220 | S | F | 0.5725802144 | 0.3279787532 | -0.2446014612 | A colorectal cancer sample
Q15582 | TGFBI | 622 | N | K | 0.5796548568 | 0.3356691008 | -0.243985756 | Lattice corneal dystrophy type 3A (CDL3A) [MIM:608471]
[NAME] | CFTR | 287 | N | Y | 0.5632549795 | 0.3199680481 | -0.2432869314 | Cystic fibrosis (CF) [MIM:219700]
P02649 | APOE | 176 | R | C | 0.6658800088 | 0.422712165 | -0.2431678438 | Hyperlipoproteinemia type III [MIM:107741]
P48436 | SOX9 | 108 | P | L | 0.6870503135 | 0.4451980028 | -0.2418523107 | Campomelic dysplasia (CMD1) [MIM:114290]
P40337 | VHL | 167 | R | Q | 0.6213189159 | 0.379701163 | -0.2416177529 | [NAME] disease (VHLD) [MIM:193300]; Pheochromocytoma [MIM:171300]
P08235 | NR3C2 | 659 | R | S | 0.5021181024 | 0.2605969438 | -0.2415211586 | Autosomal dominant pseudohypoaldosteronism type I (PHA1) [MIM:177735]
O15021 | MAST4 | 2470 | E | D | 0.7165039469 | 0.4758351834 | -0.2406687635 | A lung squamous cell carcinoma sample
P05186 | ALPL | 426 | G | C | 0.5412988687 | 0.3013752766 | -0.2399235921 | Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]; Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]; Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
[NAME] | UMPS | 96 | R | G | 0.6727253041 | 0.433642705 | -0.2390825991 | Hereditary orotic aciduria (HOA) [MIM:258900]
Q13144 | EIF2B5 | 650 | E | K | 0.5534240557 | 0.3149818963 | -0.2384421594 | Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
[NAME] | BTD | 538 | R | C | 0.6517895464 | 0.4134339051 | -0.2383556413 | Biotinidase deficiency (BTD deficiency) [MIM:253260]
P40337 | VHL | 167 | R | G | 0.6213189159 | 0.3842884613 | -0.2370304546 | [NAME] disease (VHLD) [MIM:193300]
Q9GZX3 | CHST6 | 202 | R | S | 0.5261343315 | 0.2906917418 | -0.2354425897 | Macular corneal dystrophy (MCD) [MIM:217800]
Q14896 | MYBPC3 | 833 | R | W | 0.6155502 | 0.3801249828 | -0.2354252172 | Cardiomyopathy familial hypertrophic type 4 (CMH4) [MIM:115197]
P08590 | MYL3 | 143 | E | K | 0.5400429243 | 0.3046347693 | -0.235408155 | Cardiomyopathy familial hypertrophic type 8 (CMH8) [MIM:608751]
Q14126 | [NAME] | 49 | R | H | 0.644360112 | 0.4094916543 | -0.2348684577 | Familial arrhythmogenic right ventricular dysplasia 10 (ARVD10) [MIM:610193]
Q5UIP0 | RIF1 | 1784 | E | K | 0.6502524486 | 0.4157050825 | -0.2345473661 | A breast cancer sample
P30613 | PKLR | 427 | E | A | 0.639428282 | 0.4050635996 | -0.2343646824 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
Q7Z494 | NPHP3 | 397 | R | H | 0.6393172859 | 0.4053264453 | -0.2339908406 | Nephronophthisis type 3 (NPHP3) [MIM:604387]
P80365 | HSD11B2 | 180 | S | F | 0.5482209304 | 0.3156050924 | -0.232615838 | Apparent mineralocorticoid excess (AME) [MIM:218030]
Q16671 | AMHR2 | 504 | R | C | 0.5718557077 | 0.3394589224 | -0.2323967853 | Persistent Muellerian duct syndrome type 2 (PMDS-2) [MIM:261550]
Q9Y4A5 | TRRAP | 1932 | P | L | 0.5640158588 | 0.3335525645 | -0.2304632943 | A colorectal adenocarcinoma sample
P35520 | CBS | 369 | R | C | 0.5297187334 | 0.301240826 | -0.2284779074 | Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P34059 | GALNS | 53 | S | F | 0.5939476257 | 0.3659512874 | -0.2279963383 | Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
P40337 | VHL | 200 | R | W | 0.7030045104 | 0.4754972782 | -0.2275072322 | [NAME] disease (VHLD) [MIM:193300]; Erythrocytosis familial type 2 (ECYT2) [MIM:263400]
Q9BXM7 | PINK1 | 464 | R | H | 0.5546001191 | 0.3272544986 | -0.2273456205 | Autosomal recessive early-onset Parkinson disease 6 (PARK6) [MIM:605909, 168600]
P10636 | MAPT | 659 | E | V | 0.6604276505 | 0.4344495195 | -0.225978131 | Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP17) [MIM:600274, 172700]
Q15198 | PDGFRL | 23 | H | Y | 0.700161404 | 0.4763792327 | -0.2237821713 | Colorectal cancer (CRC) [MIM:114500]
P55017 | SLC12A3 | 958 | R | G | 0.6772342812 | 0.4547761189 | -0.2224581623 | [NAME] syndrome (GS) [MIM:263800]
P28329 | CHAT | 482 | R | G | 0.6075057883 | 0.386291799 | -0.2212139893 | Congenital myasthenic syndrome with episodic apnea (CMSEA) [MIM:254210]
P00441 | SOD1 | 101 | E | G | 0.5150175816 | 0.2942248411 | -0.2207927405 | Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
Q9NZ52 | GGA3 | 574 | P | L | 0.5066420019 | 0.286006011 | -0.2206359909 | A breast cancer sample
P11310 | ACADM | 53 | R | C | 0.7125461343 | 0.493135217 | -0.2194109173 | Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
P20807 | CAPN3 | 541 | R | Q | 0.6671495956 | 0.4478691578 | -0.2192804378 | Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
P19544 | WT1 | 360 | C | Y | 0.6117743205 | 0.392871377 | -0.2189029435 | Denys-Drash syndrome (DDS) [MIM:194080]
P01008 | SERPINC1 | 79 | R | S | 0.6536607201 | 0.4362429929 | -0.2174177272 | [NAME] deficiency (AT3D) [MIM:107300]
P21333 | FLNA | 254 | E | K | 0.5676383937 | 0.3508520642 | -0.2167863295 | Otopalatodigital syndrome type 2 (OPD2) [MIM:304120]
O75360 | PROP1 | 73 | R | H | 0.6418825164 | 0.425469675 | -0.2164128414 | Combined pituitary hormone deficiency (CPHD) [MIM:601538, 262600]
P33897 | ABCD1 | 291 | E | K | 0.5613733414 | 0.3452735609 | -0.2160997805 | Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
Q5TBB1 | RNASEH2B | 162 | K | T | 0.5963481608 | 0.3804444774 | -0.2159036834 | [NAME] syndrome type 2 (AGS2) [MIM:610181]
P01008 | SERPINC1 | 461 | P | L | 0.6324980075 | 0.4166464356 | -0.2158515719 | [NAME] deficiency (AT3D) [MIM:107300]
P52952 | NKX2-5 | 25 | R | C | 0.6560929685 | 0.4409801903 | -0.2151127782 | Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]; Congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]; Tetralogy of Fallot (TOF) [MIM:187500]
P04114 | APOB | 3527 | R | Q | 0.6582550264 | 0.4438934972 | -0.2143615292 | Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]
Q15772 | SPEG | 1903 | R | W | 0.6741040257 | 0.4612755302 | -0.2128284955 | An ovarian mucinous carcinoma sample
[NAME] | JAG1 | 163 | P | L | 0.5639535186 | 0.3518150447 | -0.2121384739 | Alagille syndrome type 1 (ALGS1) [MIM:118450]
P54802 | NAGLU | 516 | P | L | 0.5466202465 | 0.335446683 | -0.2111735635 | Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
P20807 | CAPN3 | 4 | V | I | 0.6344168708 | 0.4235120784 | -0.2109047924 | Limb-girdle muscular dystrophy type 2A (LGMD2A) [MIM:253600]
Q96RR1 | PEO1 | 319 | K | E | 0.5497910449 | 0.3394701409 | -0.210320904 | Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]
P43246 | MSH2 | 723 | S | F | 0.5397618981 | 0.3302065252 | -0.2095553729 | Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
P49335 | POU3F4 | 323 | R | G | 0.6272241843 | 0.4178269228 | -0.2093972615 | X-linked deafness type 3 (DFN3) [MIM:304400]
Q13510 | ASAH1 | 36 | Y | C | 0.6295237771 | 0.4201447631 | -0.209379014 | [NAME] disease (FD) [MIM:228000]
Q99519 | NEU1 | 370 | Y | C | 0.6585448782 | 0.4508276875 | -0.2077171907 | Sialidosis [MIM:256550]
Q86UK0 | ABCA12 | 1381 | G | E | 0.5715683807 | 0.3641488921 | -0.2074194886 | Ichthyosis lamellar type 2 (LI2) [MIM:601277]
P30613 | PKLR | 427 | E | D | 0.639428282 | 0.4320412093 | -0.2073870727 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
Q13023 | AKAP6 | 1702 | E | Q | 0.5247828493 | 0.3177298821 | -0.2070529672 | A breast cancer sample
[NAME] | NHEJ1 | 57 | R | G | 0.6558883846 | 0.4500804152 | -0.2058079694 | Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) [MIM:611291]
P49619 | DGKG | 706 | E | K | 0.5701509931 | 0.3650202418 | -0.2051307513 | A breast cancer sample
P07949 | RET | 883 | A | F | 0.5718182368 | 0.3670368242 | -0.2047814126 | Multiple neoplasia type 2B (MEN2B) [MIM:162300]
[NAME] | MYO18B | 2381 | R | H | 0.5165040835 | 0.3121756403 | -0.2043284432 | Lung adenocarcinoma
P01241 | GH1 | 100 | E | K | 0.5170306331 | 0.3128494122 | -0.2041812209 | Isolated growth hormone deficiency type IB (IGHD IB) [MIM:262400]
P19429 | TNNI3 | 166 | S | F | 0.5668271214 | 0.3630337866 | -0.2037933348 | Cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]
P25445 | FAS | 264 | N | K | 0.5619276478 | 0.3581842114 | -0.2037434364 | Non-Hodgkin lymphoma
P49815 | TSC2 | 1227 | P | L | 0.6964582058 | 0.4943598373 | -0.2020983685 | Tuberous sclerosis complex (TSC) [MIM:191100]
O60733 | PLA2G6 | 632 | R | W | 0.6830235157 | 0.4809391435 | -0.2020843722 | Karak syndrome [MIM:608395]
P04070 | PROC | 321 | P | L | 0.6970050957 | 0.4956776564 | -0.2013274393 | Protein C deficiency autosomal dominant (ADPROCD) [MIM:176860]
P30566 | ADSL | 422 | D | Y | 0.5577316312 | 0.3570162719 | -0.2007153593 | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
Q3T906 | GNPTAB | 1236 | K | M | 0.5820848339 | 0.3815789038 | -0.2005059301 | Mucolipidosis type II (MLII) [MIM:252500]
P52945 | PDX1 | 197 | R | H | 0.6148983312 | 0.4145876641 | -0.2003106671 | Maturity onset diabetes of the young type 4 (MODY4) [MIM:606392]
Q13253 | NOG | 35 | P | R | 0.5827017602 | 0.3825863632 | -0.200115397 | Symphalangism proximal syndrome (SYM1) [MIM:185800]; Tarsal-carpal coalition syndrome (TCC) [MIM:186570]
P19544 | WT1 | 396 | D | Y | 0.6129106974 | 0.4158643539 | -0.1970463435 | Denys-Drash syndrome (DDS) [MIM:194080]
P02766 | TTR | 79 | T | K | 0.5457804819 | 0.3492553413 | -0.1965251406 | Amyloidosis type 1 (AMYL1) [MIM:176300]
P00966 | ASS1 | 341 | S | F | 0.5946514342 | 0.3984343848 | -0.1962170494 | Citrullinemia type 1 (CTLN1) [MIM:215700]
Q04671 | OCA2 | 10 | R | W | 0.6681495857 | 0.4730728275 | -0.1950767582 | Oculocutaneous albinism type 2 (OCA2) [MIM:203200]
P19971 | TYMP | 289 | E | A | 0.6166267009 | 0.4216927812 | -0.1949339197 | Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [MIM:603041]
P42336 | PIK3CA | 542 | E | V | 0.6400403714 | 0.4456023841 | -0.1944379873 | Cancer
P30793 | GCH1 | 241 | R | W | 0.6148003601 | 0.42084375 | -0.1939566101 | Dystonia type 5 (DYT5) [MIM:128230]
Q16678 | CYP1B1 | 232 | G | R | 0.5810114185 | 0.3873606071 | -0.1936508114 | Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]; Primary open angle glaucoma (POAG) [MIM:137760]
P43246 | MSH2 | 349 | P | L | 0.5812378043 | 0.3882463618 | -0.1929914425 | Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
P25445 | FAS | 260 | D | V | 0.6553429039 | 0.4625349997 | -0.1928079042 | Autoimmune lymphoproliferative syndrome type 1A (ALPS1A) [MIM:601859]
P04424 | ASL | 95 | R | C | 0.6694158887 | 0.4767352143 | -0.1926806744 | Arginosuccinicaciduria (ARGINSA) [MIM:207900]
P41181 | AQP2 | 185 | P | A | 0.5018766415 | 0.3099580577 | -0.1919185838 | Diabetes insipidus nephrogenic autosomal (ANDI) [MIM:125800]
P33897 | ABCD1 | 291 | E | D | 0.5613733414 | 0.3695689352 | -0.1918044062 | Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
P00740 | F9 | 169 | S | C | 0.5802455826 | 0.3887811777 | -0.1914644049 | Recessive X-linked hemophilia B (HEMB) [MIM:306900]
Q15459 | SF3A1 | 511 | R | W | 0.5593407819 | 0.3681022011 | -0.1912385808 | A colorectal cancer sample
P00533 | EGFR | 747 | L | F | 0.6307721711 | 0.4397601082 | -0.1910120629 | Lung cancer [MIM:211980]
P06744 | GPI | 5 | T | I | 0.6831765652 | 0.4925409433 | -0.1906356219 | Hereditary nonspherocytic hemolytic anemia (HA) [MIM:172400]
P03951 | F11 | 263 | G | E | 0.6397075828 | 0.4497085427 | -0.1899990401 | F11 deficiency [MIM:612416]
P07949 | RET | 762 | E | Q | 0.6557855473 | 0.4658267282 | -0.1899588191 | Hirschsprung disease (HSCR) [MIM:142623]
P15289 | ARSA | 190 | Q | H | 0.5417874195 | 0.3535825172 | -0.1882049023 | Leukodystrophy metachromatic (MLD) [MIM:250100]
P38398 | BRCA1 | 1204 | R | I | 0.5215433475 | 0.3335566198 | -0.1879867277 | Breast cancer (BC) [MIM:113705, 114480]
P15918 | RAG1 | 669 | E | G | 0.5441692354 | 0.3566064375 | -0.1875627979 | Omenn syndrome (OS) [MIM:603554]
Q86X53 | ERICH1 | 365 | L | F | 0.5217282111 | 0.3350870567 | -0.1866411544 | A colorectal cancer sample
P35222 | CTNNB1 | 33 | S | L | 0.5098938369 | 0.325496066 | -0.1843977709 | Hepatocellular carcinoma
P05166 | PCCB | 168 | E | K | 0.666624248 | 0.4828998764 | -0.1837243716 | Propionic acidemia type II (PA-2) [MIM:606054]
P15289 | ARSA | 426 | P | L | 0.5051176886 | 0.3218630135 | -0.1832546751 | Leukodystrophy metachromatic (MLD) [MIM:250100]
P08603 | CFH | 78 | R | G | 0.5754913917 | 0.3925429115 | -0.1829484802 | Hemolytic-uremic syndrome (HUS) [MIM:235400]
O43933 | PEX1 | 593 | G | R | 0.5226183494 | 0.3408191182 | -0.1817992312 | Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:602136]
P30968 | GNRHR | 262 | R | Q | 0.576386636 | 0.3958111479 | -0.1805754881 | Idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]
A3KN83 | SBNO1 | 997 | S | C | 0.585493091 | 0.4057371347 | -0.1797559563 | A breast cancer sample
P17661 | DES | 460 | S | I | 0.6518709842 | 0.4722058187 | -0.1796651655 | [NAME]-related cardio-skeletal myopathy (CSM) [MIM:601419]
[NAME] | SCYL2 | 863 | Q | H | 0.5424458018 | 0.3631372957 | -0.1793085061 | A lung adenocarcinoma sample
P35548 | MSX2 | 172 | R | H | 0.5429083933 | 0.3679688361 | -0.1749395572 | Parietal foramina 1 (PFM1) [MIM:168500]
P49675 | STAR | 217 | R | T | 0.5206679685 | 0.3465709583 | -0.1740970102 | Congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]
Q13813 | SPTAN1 | 904 | S | C | 0.5858323002 | 0.4124020129 | -0.1734302873 | A breast cancer sample
P40337 | VHL | 166 | V | F | 0.5674140783 | 0.3948764139 | -0.1725376644 | [NAME] disease (VHLD) [MIM:193300]
P35475 | IDUA | 423 | S | R | 0.5398434487 | 0.3679501878 | -0.1718932609 | Mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]
P30613 | PKLR | 421 | Q | K | 0.6659308643 | 0.4941667107 | -0.1717641536 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
O95382 | MAP3K6 | 869 | P | T | 0.536550241 | 0.3665964452 | -0.1699537958 | A breast cancer sample
O15118 | NPC1 | 727 | V | F | 0.5251227138 | 0.3554255412 | -0.1696971726 | Niemann-Pick disease type C1 (NPC1) [MIM:257220]
O15075 | DCLK1 | 29 | G | C | 0.6643694905 | 0.4947159703 | -0.1696535202 | A gastric adenocarcinoma sample
P37058 | HSD17B3 | 80 | R | Q | 0.5868567551 | 0.418906195 | -0.1679505601 | Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]
P51810 | GPR143 | 5 | R | C | 0.5857494768 | 0.4186223692 | -0.1671271076 | Ocular albinism type 1 (OA1) [MIM:300500]
[NAME] | VWF | 2362 | C | F | 0.5837036961 | 0.4166633069 | -0.1670403892 | Various forms of [NAME] disease (VWD) [MIM:193400, 277480]
[NAME] | TP63 | 343 | R | W | 0.6083779346 | 0.443113927 | -0.1652640076 | Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome type 3 (EEC3) [MIM:604292]
[NAME] | CDH23 | 247 | E | K | 0.6140154798 | 0.4496192375 | -0.1643962423 | Usher syndrome type 1D (USH1D) [MIM:601067]
P22304 | IDS | 468 | R | L | 0.6347463026 | 0.4707589166 | -0.163987386 | Mucopolysaccharidosis type 2 (MPS2) [MIM:309900]
P00441 | SOD1 | 94 | G | R | 0.6117185542 | 0.4483291358 | -0.1633894184 | Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
P08236 | GUSB | 611 | R | W | 0.6183874764 | 0.4550088031 | -0.1633786733 | Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
Q5T4S7 | UBR4 | 1394 | R | H | 0.5665309837 | 0.4043356447 | -0.162195339 | A breast cancer sample
Q8IV35 | WDR49 | 10 | R | H | 0.6443138344 | 0.4823188355 | -0.1619949989 | A colorectal cancer sample
O43678 | NDUFA2 | 50 | D | N | 0.6330355469 | 0.472262767 | -0.1607727799 | A breast cancer sample
P09417 | [NAME] | 150 | Y | C | 0.5560362481 | 0.3953671678 | -0.1606690803 | BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
Q92838 | EDA | 255 | G | D | 0.6196725016 | 0.4593565205 | -0.1603159811 | Ectodermal dysplasia, type 1 (ED1) [MIM:305100]
P42336 | PIK3CA | 542 | E | Q | 0.6400403714 | 0.4799982773 | -0.1600420941 | Cancer
Q9BX63 | BRIP1 | 647 | W | C | 0.5200634877 | 0.3600479595 | -0.1600155282 | Fanconi anemia complementation group J (FANCJ) [MIM:609054, 227650]
P30613 | PKLR | 342 | I | F | 0.6029378127 | 0.4430018378 | -0.1599359749 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P32004 | L1CAM | 309 | E | K | 0.5919058945 | 0.4323526154 | -0.1595532791 | Mental retardation-aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]
Q13402 | MYO7A | 1887 | P | L | 0.6519648884 | 0.4927529131 | -0.1592119753 | Usher syndrome type 1B (USH1B) [MIM:276900]
Q16586 | SGCA | 98 | R | C | 0.5715434207 | 0.413300727 | -0.1582426937 | Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
Q14126 | [NAME] | 812 | G | C | 0.5528742017 | 0.3955181099 | -0.1573560918 | Familial arrhythmogenic right ventricular dysplasia 10 (ARVD10) [MIM:610193]
Q96SI9 | STRBP | 280 | G | R | 0.5250926783 | 0.3679618868 | -0.1571307915 | A breast cancer sample
Q04656 | ATP7A | 844 | R | H | 0.5753162798 | 0.4192175829 | -0.1560986969 | Menkes disease (MNKD) [MIM:309400]
Q9GZX3 | CHST6 | 203 | D | E | 0.5897864005 | 0.4341064344 | -0.1556799661 | Macular corneal dystrophy (MCD) [MIM:217800]
P05186 | ALPL | 298 | E | K | 0.5423741405 | 0.3876573091 | -0.1547168314 | Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]; Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]; Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
P33897 | ABCD1 | 556 | Q | R | 0.522565191 | 0.3679804483 | -0.1545847427 | Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
P48436 | SOX9 | 165 | H | Y | 0.637712493 | 0.4842374928 | -0.1534750002 | Campomelic dysplasia (CMD1) [MIM:114290]
Q16678 | CYP1B1 | 229 | E | K | 0.6395989195 | 0.4875933278 | -0.1520055917 | Primary congenital glaucoma type 3A (GLC3A) [MIM:231300]; Primary open angle glaucoma (POAG) [MIM:137760]
P52952 | NKX2-5 | 77 | P | L | 0.6399324882 | 0.4895661759 | -0.1503663123 | Atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]
Q16518 | RPE65 | 91 | R | W | 0.6200996845 | 0.4698716409 | -0.1502280436 | Retinitis pigmentosa type 20 (RP20) [MIM:180069]
P08686 | CYP21A2 | 483 | R | W | 0.5197833064 | 0.3696385835 | -0.1501447229 | Adrenal hyperplasia type 3 (AH3) [MIM:201910]
O15305 | PMM2 | 132 | I | F | 0.5193126246 | 0.369345966 | -0.1499666586 | Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
P55157 | MTTP | 780 | N | Y | 0.5499951594 | 0.4002859661 | -0.1497091933 | Abetalipoproteinemia (ABL) [MIM:200100]
P30613 | PKLR | 376 | S | I | 0.6063864229 | 0.456877585 | -0.1495088379 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
Q9H4B6 | [NAME] | 185 | A | D | 0.6382094242 | 0.4889782241 | -0.1492312001 | A colon cancer cell line
Q9H2C0 | GAN | 486 | E | K | 0.5793383748 | 0.4318362975 | -0.1475020773 | Giant axonal neuropathy (GAN) [MIM:256850]
O75445 | USH2A | 3124 | R | G | 0.5703386489 | 0.4228836937 | -0.1474549552 | Usher syndrome type 2A (USH2A) [MIM:276901]
P21817 | RYR1 | 178 | Y | C | 0.576760913 | 0.4293860177 | -0.1473748953 | Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
P34059 | GALNS | 61 | R | W | 0.5544218389 | 0.4090154475 | -0.1454063914 | Mucopolysaccharidosis type 4A (MPS4A) [MIM:253000]
P00441 | SOD1 | 126 | D | H | 0.5789852035 | 0.4339624907 | -0.1450227128 | Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
P04150 | NR3C1 | 753 | L | F | 0.5593522881 | 0.4148359732 | -0.1445163149 | Two glucocorticoid resistant leukemia cell lines lacking the normal allele
Q9UBP0 | SPAST | 424 | R | G | 0.5771362644 | 0.4328279185 | -0.1443083459 | Spastic paraplegia autosomal dominant type 4 (SPG4) [MIM:182601]
Q13315 | ATM | 2227 | R | C | 0.5644245692 | 0.4221021346 | -0.1423224346 | [NAME] (AT) [MIM:208900]
P43246 | MSH2 | 13 | S | I | 0.6232264907 | 0.4809805932 | -0.1422458975 | Colorectal cancer
[NAME] | CFTR | 111 | P | L | 0.5549438728 | 0.4128728752 | -0.1420709976 | Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]
P30613 | PKLR | 498 | R | H | 0.5290887289 | 0.3874166598 | -0.1416720691 | Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200]
P21817 | RYR1 | 401 | R | H | 0.6233659771 | 0.4829499611 | -0.140416016 | Malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]
Q9UPN3 | MACF1 | 302 | E | V | 0.5669397357 | 0.4269307955 | -0.1400089402 | A breast cancer sample
P35222 | CTNNB1 | 34 | G | E | 0.6048893882 | 0.4651791349 | -0.1397102533 | Pilomatrixoma (PTR) [MIM:132600]
P04062 | GBA | 87 | R | W | 0.5155019053 | 0.3762429326 | -0.1392589727 | Gaucher disease (GD) [MIM:230800]
P98161 | [NAME] | 3039 | R | C | 0.5151593677 | 0.3760024289 | -0.1391569388 | Polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]
O15305 | PMM2 | 237 | T | M | 0.5520757806 | 0.4132725996 | -0.138803181 | Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
[NAME] | SFRS6 | 145 | R | Q | 0.5870475356 | 0.4489645334 | -0.1380830022 | A colorectal cancer sample
[NAME] | MYO18B | 2295 | G | C | 0.528829155 | 0.3907869307 | -0.1380422243 | Lung small cell carcinoma
[NAME] | JAG1 | 163 | P | R | 0.5639535186 | 0.4264461331 | -0.1375073855 | Alagille syndrome type 1 (ALGS1) [MIM:118450]
Q13253 | NOG | 35 | P | A | 0.5827017602 | 0.4455992162 | -0.137102544 | Brachydactyly type B2 (BDB2) [MIM:611377]
P35520 | CBS | 125 | R | W | 0.6329804047 | 0.4959771168 | -0.1370032879 | Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
Q03426 | MVK | 150 | S | L | 0.5159344517 | 0.3794103669 | -0.1365240848 | Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
P00740 | F9 | 79 | E | D | 0.5609275563 | 0.4246473905 | -0.1362801658 | Recessive X-linked hemophilia B (HEMB) [MIM:306900]
Q9BXB4 | OSBPL11 | 184 | S | L | 0.630648098 | 0.4944324655 | -0.1362156325 | A breast cancer sample
O75445 | USH2A | 3504 | P | T | 0.5634249103 | 0.4297358859 | -0.1336890244 | Usher syndrome type 2A (USH2A) [MIM:276901]
Q99972 | MYOC | 246 | G | R | 0.5575670431 | 0.4239781572 | -0.1335888859 | Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
Q8TCZ9 | PKHD1 | 19 | R | H | 0.5088736977 | 0.3753667455 | -0.1335069522 | A colorectal cancer sample
P50851 | LRBA | 2038 | Q | H | 0.5773164263 | 0.4438148161 | -0.1335016102 | A breast cancer sample
P35222 | CTNNB1 | 34 | G | R | 0.6048893882 | 0.472155262 | -0.1327341262 | Hepatocellular carcinoma
O60880 | SH2D1A | 28 | S | R | 0.5072895208 | 0.3755651909 | -0.1317243299 | Lymphoproliferative syndrome X-linked type 1 (XLP1) [MIM:308240]
Q8TCZ9 | PKHD1 | 1486 | P | L | 0.6277876606 | 0.4963533041 | -0.1314343565 | Polycystic kidney disease autosomal recessive (ARPKD) [MIM:263200]
Q13402 | MYO7A | 241 | R | S | 0.5508788604 | 0.4205426767 | -0.1303361837 | Usher syndrome type 1B (USH1B) [MIM:276900]
P04062 | GBA | 234 | G | W | 0.5590693639 | 0.4300563645 | -0.1290129994 | Gaucher disease (GD) [MIM:230800]
Q9UMF0 | ICAM5 | 488 | E | Q | 0.5018443573 | 0.3739122461 | -0.1279321112 | A breast cancer sample
Q02094 | RHAG | 380 | G | V | 0.5164621087 | 0.3898406996 | -0.1266214091 | Regulator type Rh-null hemolytic anemia (RHN) [MIM:268150]
P40692 | MLH1 | 35 | M | K | 0.550288574 | 0.4240140994 | -0.1262744746 | Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
Q02388 | COL7A1 | 2791 | R | W | 0.521149703 | 0.3952549181 | -0.1258947849 | Epidermolysis bullosa dystrophica (DEB) [MIM:131750, 226600]
P46100 | ATRX | 2035 | D | V | 0.5415574133 | 0.4158408163 | -0.125716597 | X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) [MIM:301040]
P00966 | ASS1 | 310 | K | Q | 0.5105498399 | 0.3850101988 | -0.1255396411 | Citrullinemia type 1 (CTLN1) [MIM:215700]
Q96PU8 | QKI | 336 | R | Q | 0.6017782413 | 0.4763044273 | -0.125473814 | A colorectal cancer sample
Q96RG2 | PASK | 11 | E | K | 0.5928660111 | 0.4683868328 | -0.1244791783 | A metastatic melanoma sample
P35520 | CBS | 369 | R | H | 0.5297187334 | 0.4058482331 | -0.1238705003 | Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
P25054 | APC | 911 | E | G | 0.5993347664 | 0.4760210598 | -0.1233137066 | Familial adenomatous polyposis (FAP) [MIM:175100]
P11310 | ACADM | 121 | T | I | 0.5932169011 | 0.4700486681 | -0.123168233 | Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) [MIM:201450]
Q06124 | PTPN11 | 505 | R | K | 0.5969614401 | 0.474774235 | -0.1221872051 | Noonan syndrome 1 (NS1) [MIM:163950]
O75161 | NPHP4 | 776 | P | R | 0.5532268541 | 0.4311845199 | -0.1220423342 | Nephronophthisis type 4 (NPHP4) [MIM:606966]
Q9UNE0 | EDAR | 420 | R | Q | 0.5198666552 | 0.3996245226 | -0.1202421326 | Ectodermal dysplasia type 3 (ED3) [MIM:129490]
Q9Y4R7 | TTLL3 | 476 | M | I | 0.5905489515 | 0.4708940351 | -0.1196549164 | A colorectal cancer sample
P51687 | SUOX | 268 | R | Q | 0.5825324481 | 0.4635335078 | -0.1189989403 | Isolated sulfite oxidase deficiency (ISOD) [MIM:272300]
P15289 | ARSA | 425 | P | T | 0.5511089657 | 0.4322229314 | -0.1188860343 | Leukodystrophy metachromatic (MLD) [MIM:250100]
P07902 | GALT | 229 | K | N | 0.6154054843 | 0.4965825778 | -0.1188229065 | Galactosemia [MIM:230400]
P40337 | VHL | 65 | S | W | 0.5281853607 | 0.4110669621 | -0.1171183986 | [NAME] disease (VHLD) [MIM:193300]
Q07889 | SOS1 | 552 | R | K | 0.563803976 | 0.4470311988 | -0.1167727772 | Noonan syndrome type 4 (NS4) [MIM:610733]
P06400 | RB1 | 803 | N | K | 0.5857157139 | 0.4692651368 | -0.1164505771 | Childhood cancer retinoblastoma (RB) [MIM:180200]
P11047 | [NAME] | 1116 | R | H | 0.5925577446 | 0.4767140871 | -0.1158436575 | A colorectal cancer sample
P06280 | GLA | 361 | G | R | 0.5665924443 | 0.4508544309 | -0.1157380134 | Fabry disease (FD) [MIM:301500]
P45379 | TNNT2 | 102 | R | L | 0.6063794276 | 0.4940253825 | -0.1123540451 | Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]
O14896 | IRF6 | 6 | R | C | 0.5111818488 | 0.3991176429 | -0.1120642059 | Van der [NAME] syndrome (VWS) [MIM:119300]
Q6ZUT3 | FRMD7 | 340 | S | L | 0.5051487756 | 0.3935774349 | -0.1115713407 | X-linked congenital nystagmus 1 (NYS1) [MIM:310700]
[NAME] | BPIL1 | 20 | A | V | 0.5647981718 | 0.4534644701 | -0.1113337017 | A colorectal cancer sample
P10253 | GAA | 437 | R | C | 0.5261423406 | 0.4158338496 | -0.110308491 | Glycogen storage disease type 2 (GSD2) [MIM:232300]
P05186 | ALPL | 426 | G | D | 0.5412988687 | 0.4311992858 | -0.1100995829 | Hypophosphatasia adult type (hypophosphatasia) [MIM:146300]; Hypophosphatasia childhood (hypophosphatasia) [MIM:241510]; Hypophosphatasia infantile (hypophosphatasia) [MIM:241500]
P49815 | TSC2 | 1295 | D | V | 0.5507805432 | 0.4414587849 | -0.1093217583 | Tuberous sclerosis complex (TSC) [MIM:191100]
Q8WZ42 | TTN | 19392 | E | K | 0.5281477713 | 0.4193896627 | -0.1087581086 | A lung neuroendocrine carcinoma sample
Q99972 | MYOC | 352 | E | K | 0.5872023242 | 0.4794402566 | -0.1077620676 | Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
Q02388 | COL7A1 | 2623 | G | C | 0.5599201901 | 0.4541468759 | -0.1057733142 | Epidermolysis bullosa dystrophica pretibial type (PR-DEB) [MIM:131850]
P00441 | SOD1 | 125 | D | V | 0.5190902069 | 0.4136508796 | -0.1054393273 | Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
P45379 | TNNT2 | 104 | R | L | 0.5818014201 | 0.4768393291 | -0.104962091 | Cardiomyopathy familial hypertrophic type 2 (CMH2) [MIM:115195]
P35557 | GCK | 279 | E | Q | 0.5301319236 | 0.4259291479 | -0.1042027757 | Maturity onset diabetes of the young type 2 (MODY2) [MIM:125851]
Q59H18 | [NAME] | 531 | S | L | 0.5215537448 | 0.4185179109 | -0.1030358339 | A colorectal adenocarcinoma sample
[NAME] | KL | 954 | P | L | 0.5164554612 | 0.4138258386 | -0.1026296226 | A colorectal cancer sample
P05165 | PCCA | 343 | D | G | 0.5123358797 | 0.4098134502 | -0.1025224295 | Propionic acidemia type I (PA-1) [MIM:606054]
P48634 | BAT2 | 1152 | R | H | 0.5306136739 | 0.4292082847 | -0.1014053892 | A breast cancer sample
O14654 | IRS4 | 20 | A | V | 0.5308799941 | 0.42950591 | -0.1013740841 | A colorectal cancer sample
O95990 | FAM107A | 19 | P | L | 0.567630282 | 0.4680511914 | -0.0995790906 | Renal cell carcinoma cell line
Q14739 | LBR | 119 | P | L | 0.5371781915 | 0.4383832876 | -0.0987949039 | [NAME] anomaly (PHA) [MIM:169400]
Q7Z333 | SETX | 274 | M | I | 0.5172472324 | 0.4190764662 | -0.0981707662 | Spinocerebellar ataxia autosomal recessive type 1 (SCAR1) [MIM:606002]
Q8WZ42 | TTN | 25859 | E | K | 0.5359770224 | 0.4399251285 | -0.0960518939 | A metastatic melanoma sample
P00740 | F9 | 170 | C | F | 0.5670900928 | 0.4717750911 | -0.0953150017 | Recessive X-linked hemophilia B (HEMB) [MIM:306900]
P30793 | GCH1 | 184 | R | H | 0.5107123682 | 0.4171792272 | -0.093533141 | GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:233910]
Q99959 | PKP2 | 654 | K | Q | 0.5082320804 | 0.415672102 | -0.0925599784 | Familial arrhythmogenic right ventricular dysplasia 9 (ARVD9) [MIM:609040]
O60832 | DKC1 | 2 | A | V | 0.5842782689 | 0.4917649428 | -0.0925133261 | Dyskeratosis congenita X-linked recessive (XDKC) [MIM:305000]
P09417 | [NAME] | 149 | G | R | 0.5622724678 | 0.4723633348 | -0.089909133 | BH4-deficient hyperphenylalaninemia type C (HPABH4C) [MIM:261630]
P54802 | NAGLU | 455 | Y | C | 0.5413263132 | 0.4535961638 | -0.0877301494 | Mucopolysaccharidosis type 3B (MPS3B) [MIM:252920]
Q16678 | CYP1B1 | 530 | D | G | 0.5572192297 | 0.4705538894 | -0.0866653403000001 | Primary open angle glaucoma (POAG) [MIM:137760]
P08514 | ITGA2B | 412 | G | R | 0.5295993312 | 0.4442768729 | -0.0853224583 | Glanzmann thrombasthenia (GT) [MIM:273800]
[NAME] | VWF | 2546 | N | Y | 0.5720564375 | 0.4868231737 | -0.0852332638 | Various forms of [NAME] disease (VWD) [MIM:193400, 277480]
P07949 | RET | 287 | R | Q | 0.542497446 | 0.4573471771 | -0.0851502689 | Hirschsprung disease (HSCR) [MIM:142623]
P55157 | MTTP | 590 | S | I | 0.5214382077 | 0.437830422 | -0.0836077857 | Abetalipoproteinemia (ABL) [MIM:200100]
Q8TB52 | FBXO30 | 8 | S | C | 0.5045233451 | 0.4231652998 | -0.0813580453 | A colorectal cancer sample
P48637 | GSS | 26 | A | D | 0.556649483 | 0.4755811402 | -0.0810683428 | Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
P16871 | IL7R | 66 | T | I | 0.5081376024 | 0.4272936861 | -0.0808439163 | Autosomal recessive severe combined immunodeficiency T-cell-negative/B-cell-positive/NK cell-positive (T(-)/B(+)/NK(+) SCID) [MIM:608971]
O95292 | VAPB | 56 | P | S | 0.5458298804 | 0.464993442 | -0.0808364384 | Amyotrophic lateral sclerosis type 8 ([NAME]) [MIM:608627]; Spinal muscular atrophy autosomal dominant Finkel type (SMAF) [MIM:182980]
[NAME] | OTC | 320 | R | L | 0.5304806831 | 0.4519359273 | -0.0785447558 | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
Q8WZ42 | TTN | 23303 | H | Y | 0.5621300756 | 0.4836587418 | -0.0784713337999999 | A metastatic melanoma sample
P35575 | G6PC | 5 | M | R | 0.5620954356 | 0.4851703342 | -0.0769251014 | Glycogen storage disease type 1A (GSD1A) [MIM:232200]
P51648 | ALDH3A2 | 328 | M | I | 0.5500487098 | 0.4732072608 | -0.076841449 | Sjoegren-Larsson syndrome (SLS) [MIM:270200]
Q969M1 | TOMM40L | 100 | D | N | 0.5198469967 | 0.4442639578 | -0.0755830389 | A colorectal cancer sample
P46100 | ATRX | 1552 | V | F | 0.5029100813 | 0.4273647604 | -0.0755453209 | X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) [MIM:301040]
P25189 | MPZ | 224 | D | Y | 0.5058916171 | 0.4323670581 | -0.073524559 | Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]
Q13315 | ATM | 2063 | G | E | 0.5523736996 | 0.4793237522 | -0.0730499474 | [NAME] (AT) [MIM:208900]
P08236 | GUSB | 52 | S | F | 0.5388253049 | 0.4661757789 | -0.072649526 | Mucopolysaccharidosis type 7 (MPS7) [MIM:253220]
[NAME] | MYO18B | 389 | W | C | 0.5538129879 | 0.4815694105 | -0.0722435774 | Lung adenocarcinoma
P33897 | ABCD1 | 298 | G | D | 0.5426147791 | 0.4714458214 | -0.0711689577 | Adrenoleukodystrophy X-linked (X-ALD) [MIM:300100]
P15313 | ATP6V1B1 | 174 | M | R | 0.5063619843 | 0.4355624005 | -0.0707995838 | Distal renal tubular acidosis with deafness (dRTA) [MIM:267300]
Q99574 | SERPINI1 | 52 | S | R | 0.5396441985 | 0.4698519683 | -0.0697922302 | Familial encephalopathy with neuroserpin inclusion bodies (FEN1B) [MIM:604218]
Q99972 | MYOC | 245 | C | Y | 0.5401105516 | 0.4716966563 | -0.0684138953 | Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
P98172 | EFNB1 | 158 | M | I | 0.5603324179 | 0.4926617571 | -0.0676706608 | Craniofrontonasal syndrome (CFNS) [MIM:304110]
O14795 | UNC13B | 209 | P | S | 0.5328790663 | 0.4654533183 | -0.0674257480000001 | A colorectal cancer sample
Q06187 | BTK | 64 | V | F | 0.5029492286 | 0.4357109779 | -0.0672382507 | X-linked agammaglobulinemia (XLA) [MIM:300755]
P10828 | THRB | 316 | R | H | 0.5068260415 | 0.4397638448 | -0.0670621967 | Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650]
Q59H18 | [NAME] | 899 | M | I | 0.5188398127 | 0.4517958117 | -0.067044001 | A head & Neck squamous cell carcinoma sample
P00441 | SOD1 | 125 | D | G | 0.5190902069 | 0.4526070818 | -0.0664831251 | Amyotrophic lateral sclerosis type 1 (ALS1) [MIM:105400]
Q99972 | MYOC | 244 | G | V | 0.5505099564 | 0.485353591 | -0.0651563654 | Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
P19438 | TNFRSF1A | 81 | C | F | 0.539051802 | 0.4748796782 | -0.0641721238 | Familial hibernian fever (FHF) [MIM:142680]
P00966 | ASS1 | 191 | E | Q | 0.5562722791 | 0.4930941285 | -0.0631781506 | Citrullinemia type 1 (CTLN1) [MIM:215700]
P23508 | MCC | 698 | A | V | 0.5490598742 | 0.4860017685 | -0.0630581057 | Colorectal cancer
Q06187 | BTK | 613 | G | D | 0.5374129809 | 0.4759144231 | -0.0614985578 | X-linked agammaglobulinemia (XLA) [MIM:300755]
P41235 | HNF4A | 402 | V | I | 0.5157071778 | 0.4561041906 | -0.0596029872 | Maturity onset diabetes of the young type 1 (MODY1) [MIM:125850]
O15305 | PMM2 | 238 | R | G | 0.5293808363 | 0.4698314519 | -0.0595493844 | Congenital disorder of glycosylation type 1A (CDG1A) [MIM:212065]
P21817 | RYR1 | 4906 | A | V | 0.5155787211 | 0.4573194395 | -0.0582592816 | Central core disease of muscle (CCD) [MIM:117000]
P16144 | ITGB4 | 931 | G | D | 0.5146724133 | 0.4566653707 | -0.0580070426 | Generalized atrophic benign epidermolysis bullosa (GABEB) [MIM:226650]
Q6ZVD7 | STOX1 | 825 | N | I | 0.5375932782 | 0.4808029069 | -0.0567903713 | Pre-eclampsia/eclampsia 4 (PEE4) [MIM:609404]
Q96RR1 | PEO1 | 335 | P | L | 0.535030284 | 0.4783013256 | -0.0567289584 | Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 3 (PEOA3) [MIM:609286]
P17661 | DES | 342 | N | D | 0.5139467552 | 0.458222244 | -0.0557245112 | [NAME]-related cardio-skeletal myopathy (CSM) [MIM:601419]
Q0D2K0 | NIPAL4 | 142 | G | V | 0.5316050627 | 0.4763743761 | -0.0552306866 | Ichthyosis congenital autosomal recessive ichthyin-related (ARCII) [MIM:612281]
Q9ULD2 | MTUS1 | 873 | N | H | 0.546619428 | 0.4919931989 | -0.0546262291 | Hepatocellular carcinoma (HCC) [MIM:114550]
Q6P5W5 | SLC39A4 | 106 | N | K | 0.5410103124 | 0.4864732712 | -0.0545370412 | Acrodermatitis enteropathica zinc-deficiency type (AEZ) [MIM:201100]
P08397 | HMBS | 212 | M | V | 0.5014723029 | 0.4490716697 | -0.0524006332 | Acute intermittent porphyria (AIP) [MIM:176000]
P31513 | FMO3 | 492 | R | W | 0.5123199705 | 0.4604896277 | -0.0518303428 | Trimethylaminuria (TMAU) [MIM:602079]
P23415 | GLRA1 | 304 | K | E | 0.5206277196 | 0.4694844028 | -0.0511433168 | Startle disease (STHE) [MIM:149400]
O15537 | RS1 | 74 | G | V | 0.5390848583 | 0.4884019347 | -0.0506829236 | X-linked juvenile retinoschisis 1 (XLRS1) [MIM:312700]
Q06187 | BTK | 607 | A | D | 0.5208289879 | 0.4713637638 | -0.0494652241 | X-linked agammaglobulinemia (XLA) [MIM:300755]
P10253 | GAA | 191 | Y | C | 0.5395795072 | 0.4909429106 | -0.0486365966 | Glycogen storage disease type 2 (GSD2) [MIM:232300]
P43246 | MSH2 | 729 | M | V | 0.5474094673 | 0.4989988943 | -0.048410573 | Hereditary non-polyposis colorectal cancer type 1 (HNPCC1) [MIM:120435]
P40337 | VHL | 65 | S | L | 0.5281853607 | 0.4803771376 | -0.0478082231 | [NAME] disease (VHLD) [MIM:193300]
Q32MZ4 | LRRFIP1 | 68 | S | C | 0.5283460555 | 0.4814564732 | -0.0468895823 | A breast cancer sample
Q8N1I0 | DOCK4 | 87 | T | I | 0.53977588 | 0.4931927729 | -0.0465831071 | A CNS cancer cell line
[NAME] | MMAA | 145 | R | Q | 0.5281819661 | 0.4825283047 | -0.0456536614 | Methylmalonic aciduria type cblA (MMAA) [MIM:251100]
Q03468 | ERCC6 | 1042 | P | L | 0.5043181729 | 0.4606273623 | -0.0436908106 | Cockayne syndrome type B (CSB) [MIM:133540]
P04424 | ASL | 186 | R | Q | 0.5314456456 | 0.4880885693 | -0.0433570763 | Arginosuccinicaciduria (ARGINSA) [MIM:207900]
O15360 | FANCA | 252 | D | G | 0.5283344715 | 0.4859749573 | -0.0423595142 | Fanconi anemia (FA) [MIM:227650]
P03951 | F11 | 266 | S | N | 0.5359953526 | 0.4943309186 | -0.041664434 | F11 deficiency [MIM:612416]
Q8NEV4 | MYO3A | 1347 | D | H | 0.5018337658 | 0.4615252596 | -0.0403085062 | A renal clear cell carcinoma sample
[NAME] | [NAME] | 429 | D | G | 0.5227981749 | 0.4830282311 | -0.0397699438 | Branchiootorenal syndrome type 1 (BOR1) [MIM:113650]
[NAME] | CASC2 | 8 | P | S | 0.5053754518 | 0.4675910945 | -0.0377843573 | Some patients with endometrial cancer
P00492 | HPRT1 | 50 | A | V | 0.5049358916 | 0.4732160727 | -0.0317198189 | Lesch-Nyhan syndrome (LNS) [MIM:300322]
[NAME] | CDH23 | 2517 | S | G | 0.5068280903 | 0.4762491199 | -0.0305789704 | Usher syndrome type 1D (USH1D) [MIM:601067]
P40692 | MLH1 | 21 | A | V | 0.5110206828 | 0.4810905994 | -0.0299300834 | Hereditary non-polyposis colorectal cancer type 2 (HNPCC2) [MIM:609310]
P51570 | GALK1 | 44 | H | Y | 0.5098768122 | 0.4823757489 | -0.0275010633 | Galactosemia II [MIM:230200]
O14745 | SLC9A3R1 | 225 | E | K | 0.5168313731 | 0.4912847234 | -0.0255466497 | Hypophosphatemic nephrolithiasis/osteoporosis type 2 (NPHLOP2) [MIM:612287]
P00492 | HPRT1 | 168 | T | I | 0.5021187565 | 0.4777334116 | -0.0243853449 | Gout [MIM:300323]
P68133 | ACTA1 | 271 | M | R | 0.5040917266 | 0.4804580369 | -0.0236336897 | Nemaline myopathy type 3 ([NAME]) [MIM:161800]
P19438 | TNFRSF1A | 115 | S | G | 0.5200525617 | 0.4964322949 | -0.0236202668 | Familial hibernian fever (FHF) [MIM:142680]
P30793 | GCH1 | 191 | V | I | 0.5184751568 | 0.4951345757 | -0.0233405811 | Dystonia type 5 (DYT5) [MIM:128230]
P51587 | BRCA2 | 222 | P | S | 0.5189577262 | 0.4974009213 | -0.0215568049 | Breast cancer (BC) [MIM:612555, 114480]
Q16586 | SGCA | 196 | V | I | 0.5090801719 | 0.4880795193 | -0.0210006526 | Limb-girdle muscular dystrophy type 2D (LGMD2D) [MIM:608099]
Q99972 | MYOC | 353 | T | I | 0.5036003334 | 0.4829699511 | -0.0206303823 | Primary open angle glaucoma type 1A (GLC1A) [MIM:137750]
O15078 | CEP290 | 7 | W | C | 0.5049848455 | 0.4844966141 | -0.0204882314 | [NAME] syndrome type 5 (JBTS5) [MIM:610188]
Q9UBP0 | SPAST | 423 | V | L | 0.5063905576 | 0.4899405926 | -0.016449965 | A breast cancer sample
P00966 | ASS1 | 310 | K | R | 0.5105498399 | 0.4970176088 | -0.0135322311 | Citrullinemia type 1 (CTLN1) [MIM:215700]