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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 |
|---|---|---|---|---|---|
| C0268435 | Renal Tubular Acidosis, Type II | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0268435 | Renal Tubular Acidosis, Type II | PC | 5091 | pyruvate carboxylase | P11498 |
| C0268435 | Renal Tubular Acidosis, Type II | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0268435 | Renal Tubular Acidosis, Type II | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0268450 | Gitelman Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0268468 | Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0268468 | Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0268490 | Tyrosinemia, Type I | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0268490 | Tyrosinemia, Type I | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0268490 | Tyrosinemia, Type I | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0268494 | Oculocutaneous albinism type 1 | CALR | 811 | calreticulin | P27797 |
| C0268494 | Oculocutaneous albinism type 1 | CANX | 821 | calnexin | P27824 |
| C0268505 | Ocular albinism, type II | GK | 2710 | glycerol kinase | P32189 |
| C0268524 | gamma-Glutamyltransferase deficiency | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0268524 | gamma-Glutamyltransferase deficiency | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0268542 | Ornithine carbamoyltransferase deficiency | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0268542 | Ornithine carbamoyltransferase deficiency | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0268547 | Argininosuccinic Aciduria | ARSA | 410 | arylsulfatase A | P15289 |
| C0268547 | Argininosuccinic Aciduria | RGN | 9104 | regucalcin | Q15493 |
| C0268547 | Argininosuccinic Aciduria | ARSD | 414 | arylsulfatase D | P51689 |
| C0268548 | Hyperargininemia | ARSD | 414 | arylsulfatase D | P51689 |
| C0268553 | Hyperlysinemias | PC | 5091 | pyruvate carboxylase | P11498 |
| C0268560 | Hyperglycinemia, Transient Neonatal | GCSH | 2653 | glycine cleavage system protein H | P23434 |
| C0268560 | Hyperglycinemia, Transient Neonatal | GLDC | 2731 | glycine decarboxylase | P23378 |
| C0268568 | Classic Maple Syrup Urine Disease | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
