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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol ▲ | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C2749864 | MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) | TYMP | 1890 | thymidine phosphorylase | P19971 |
C0007222 | Cardiovascular Diseases | TYMP | 1890 | thymidine phosphorylase | P19971 |
C0271623 | Hypogonadotropic hypogonadism | TYMP | 1890 | thymidine phosphorylase | P19971 |
C0031117 | Peripheral Neuropathy | TYMP | 1890 | thymidine phosphorylase | P19971 |
C0238463 | Papillary thyroid carcinoma | TYMP | 1890 | thymidine phosphorylase | P19971 |
C0030421 | Paraganglioma | TYMP | 1890 | thymidine phosphorylase | P19971 |
C0025521 | Inborn Errors of Metabolism | TYMP | 1890 | thymidine phosphorylase | P19971 |
C0677886 | Epithelial ovarian cancer | TYMP | 1890 | thymidine phosphorylase | P19971 |
C2239176 | Liver carcinoma | UAP1 | 6675 | UDP-N-acetylglucosamine pyrophosphorylase 1 | Q16222 |
C1535939 | Pneumocystis jiroveci pneumonia | UAP1 | 6675 | UDP-N-acetylglucosamine pyrophosphorylase 1 | Q16222 |
C0023903 | Liver neoplasms | UAP1 | 6675 | UDP-N-acetylglucosamine pyrophosphorylase 1 | Q16222 |
C0019163 | Hepatitis B | UAP1 | 6675 | UDP-N-acetylglucosamine pyrophosphorylase 1 | Q16222 |
C2239176 | Liver carcinoma | UAP1L1 | 91373 | UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 | Q3KQV9 |
C0023903 | Liver neoplasms | UAP1L1 | 91373 | UDP-N-acetylglucosamine pyrophosphorylase 1 like 1 | Q3KQV9 |
C0002736 | Amyotrophic Lateral Sclerosis | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
C2239176 | Liver carcinoma | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
C0002871 | Anemia | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
C0858252 | Breast adenocarcinoma | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
C1458155 | Mammary Neoplasms | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
C0017636 | Glioblastoma | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
C0278996 | Malignant Head and Neck Neoplasm | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
C0031350 | Pharyngitis | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
C0002395 | Alzheimer's Disease | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
C0020255 | Hydrocephalus | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
C4721610 | Carcinoma, Ovarian Epithelial | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
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Last updated: August 19, 2024