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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 |
|---|---|---|---|---|---|
| C0038454 | Cerebrovascular accident | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C1561643 | Chronic Kidney Diseases | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0005587 | Depression, Bipolar | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0028754 | Obesity | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0004096 | Asthma | ORMDL1 | 94101 | ORMDL sphingolipid biosynthesis regulator 1 | Q9P0S3 |
| C1306459 | Primary malignant neoplasm | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
| C1306503 | Congenital exomphalos | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
| C0376480 | Gingival Overgrowth | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
| C0025958 | Microcephaly | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
| C2239176 | Liver carcinoma | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
| C0036572 | Seizures | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
| C0006142 | Malignant neoplasm of breast | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
| C1276035 | Pena-Shokeir syndrome type I | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
| C0028738 | Nystagmus | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
| C0006826 | Malignant Neoplasms | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
| C0010414 | Infection by Cryptococcus neoformans | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0153252 | Systemic candidiasis | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0042384 | Vasculitis | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0010674 | Cystic Fibrosis | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C1306459 | Primary malignant neoplasm | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0008373 | Cholesteatoma | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0040247 | Tinea | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0026691 | Mucocutaneous Lymph Node Syndrome | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0003850 | Arteriosclerosis | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0011636 | Dermatophytosis | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
