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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 |
|---|---|---|---|---|---|
| C1833219 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C1833218 | DIABETES MELLITUS, INSULIN-DEPENDENT, 8 | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C1833213 | Hyperferritinemia, hereditary, with congenital cataracts | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C1833118 | Cataract, Pulverulent | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C1833104 | DIABETES MELLITUS, PERMANENT NEONATAL | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C1833104 | DIABETES MELLITUS, PERMANENT NEONATAL | GCK | 2645 | glucokinase | P35557 |
| C1832916 | Timothy syndrome | OGA | 10724 | O-GlcNAcase | O60502 |
| C1832916 | Timothy syndrome | HEXD | 284004 | hexosaminidase D | Q8WVB3 |
| C1832884 | Hemiplegic migraine, familial type 1 | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1832884 | Hemiplegic migraine, familial type 1 | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C1832736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C1832736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1832736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | C1GALT1C1 | 29071 | C1GALT1 specific chaperone 1 | Q96EU7 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ARSA | 410 | arylsulfatase A | P15289 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | OGA | 10724 | O-GlcNAcase | O60502 |
