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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C1837454 | SPINOCEREBELLAR ATAXIA 8 | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C1837396 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C1837396 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C1837396 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1837355 | Leukodystrophy, Hypomyelinating, 2 | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
| C1837341 | Transposition of the Great Arteries, Dextro-Looped 1 | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C1837315 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C1837315 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | GALNT12 | 79695 | polypeptide N-acetylgalactosaminyltransferase 12 | Q8IXK2 |
| C1837315 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | TMTC1 | 83857 | transmembrane O-mannosyltransferase targeting cadherins 1 | Q8IUR5 |
| C1837315 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C1837315 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C1837315 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C1837315 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 | CLEC3A | 10143 | C-type lectin domain family 3 member A | O75596 |
| C1837229 | Muscular Dystrophy, Congenital, Type 1D | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C1837218 | Cleft palate, isolated | TIGAR | 57103 | TP53 induced glycolysis regulatory phosphatase | Q9NQ88 |
| C1837218 | Cleft palate, isolated | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C1837218 | Cleft palate, isolated | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C1837218 | Cleft palate, isolated | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C1837218 | Cleft palate, isolated | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C1837218 | Cleft palate, isolated | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C1837218 | Cleft palate, isolated | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1837218 | Cleft palate, isolated | SRGN | 5552 | serglycin | P10124 |
| C1837218 | Cleft palate, isolated | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C1837218 | Cleft palate, isolated | CAT | 847 | catalase | P04040 |
| C1837218 | Cleft palate, isolated | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
