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 |
---|---|---|---|---|---|
C0017168 | Gastroesophageal reflux disease | FCSK | 197258 | fucose kinase | Q8N0W3 |
C0029124 | Optic Atrophy | FCSK | 197258 | fucose kinase | Q8N0W3 |
C0003076 | Aniridia | LDHD | 197257 | lactate dehydrogenase D | Q86WU2 |
C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | LDHD | 197257 | lactate dehydrogenase D | Q86WU2 |
C0025958 | Microcephaly | LDHD | 197257 | lactate dehydrogenase D | Q86WU2 |
C3714756 | Intellectual Disability | LDHD | 197257 | lactate dehydrogenase D | Q86WU2 |
C0409959 | Osteoarthritis, Knee | LCTL | 197021 | lactase like | Q6UWM7 |
C0029408 | Degenerative polyarthritis | LCTL | 197021 | lactase like | Q6UWM7 |
C3810100 | FANCONI RENOTUBULAR SYNDROME 3 | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C4551503 | FANCONI RENOTUBULAR SYNDROME 1 | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C0041296 | Tuberculosis | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C0342790 | Carnitine palmitoyl transferase 2 deficiency | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C0013146 | Drug abuse | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C0013222 | Drug Use Disorders | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C0236969 | Substance-Related Disorders | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C0033687 | Proteinuria | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C3888018 | Congenital Hyperinsulinism | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C0027651 | Neoplasms | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C0376358 | Malignant neoplasm of prostate | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C0035579 | Rickets | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C0038586 | Substance Use Disorders | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C0013170 | Drug habituation | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C0015624 | Fanconi Syndrome | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C1857395 | De Toni-Debre-Fanconi Syndrome | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
C0002726 | Amyloidosis | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
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Last updated: August 19, 2024