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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 |
|---|---|---|---|---|---|
| C0740394 | Hyperuricemia | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0243026 | Sepsis | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0700095 | Central neuroblastoma | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0027819 | Neuroblastoma | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0023467 | Leukemia, Myelocytic, Acute | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C2711227 | Steatohepatitis | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0243026 | Sepsis | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0400966 | Non-alcoholic Fatty Liver Disease | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0028754 | Obesity | AACS | 65985 | acetoacetyl-CoA synthetase | Q86V21 |
| C0009324 | Ulcerative Colitis | YDJC | 150223 | YdjC chitooligosaccharide deacetylase homolog | A8MPS7 |
| C0007570 | Celiac Disease | YDJC | 150223 | YdjC chitooligosaccharide deacetylase homolog | A8MPS7 |
| C0684249 | Carcinoma of lung | YDJC | 150223 | YdjC chitooligosaccharide deacetylase homolog | A8MPS7 |
| C0019163 | Hepatitis B | YDJC | 150223 | YdjC chitooligosaccharide deacetylase homolog | A8MPS7 |
| C0033860 | Psoriasis | YDJC | 150223 | YdjC chitooligosaccharide deacetylase homolog | A8MPS7 |
| C0268398 | Familial lichen amyloidosis | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0085215 | Ovarian Failure, Premature | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0025322 | Premature Menopause | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0027651 | Neoplasms | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C3494522 | Hypergonadotropic Ovarian Failure, X-Linked | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0002994 | Angioedema | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C4552079 | Premature Ovarian Failure 1 | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0007847 | Malignant tumor of cervix | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
| C0302592 | Cervix carcinoma | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
