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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 |
|---|---|---|---|---|---|
| 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 |
| C1836632 | SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (disorder) | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| 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 |
| C1836672 | Total Hypotrichosis, Mari type | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1836672 | Total Hypotrichosis, Mari type | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1837091 | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| 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 |
