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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 |
|---|---|---|---|---|---|
| C1837218 | Cleft palate, isolated | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C1837218 | Cleft palate, isolated | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C1837091 | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C1836672 | Total Hypotrichosis, Mari type | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1836672 | Total Hypotrichosis, Mari type | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1836669 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C1836669 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C1836632 | SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (disorder) | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | FKTN | 2218 | fukutin | O75072 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | CLEC18B | 497190 | C-type lectin domain family 18 member B | Q6UXF7 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | NTM | 50863 | neurotrimin | Q9P121 |
