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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 ▼ |
|---|---|---|---|---|---|
| C0598608 | Hyperhomocysteinemia | GPX7 | 2882 | glutathione peroxidase 7 | Q96SL4 |
| 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 |
| C0023343 | Leprosy | GAL3ST4 | 79690 | galactose-3-O-sulfotransferase 4 | Q96RP7 |
| C0032273 | Pneumoconiosis | HS3ST6 | 64711 | heparan sulfate-glucosamine 3-sulfotransferase 6 | Q96QI5 |
| C0019348 | Herpes Simplex Infections | HS3ST6 | 64711 | heparan sulfate-glucosamine 3-sulfotransferase 6 | Q96QI5 |
| C0004681 | Bagassosis | HS3ST6 | 64711 | heparan sulfate-glucosamine 3-sulfotransferase 6 | Q96QI5 |
| C0600139 | Prostate carcinoma | SIGLEC12 | 89858 | sialic acid binding Ig like lectin 12 (gene/pseudogene) | Q96PQ1 |
| C0028754 | Obesity | SIGLEC12 | 89858 | sialic acid binding Ig like lectin 12 (gene/pseudogene) | Q96PQ1 |
| C0024141 | Lupus Erythematosus, Systemic | SIGLEC12 | 89858 | sialic acid binding Ig like lectin 12 (gene/pseudogene) | Q96PQ1 |
| C0007097 | Carcinoma | SIGLEC12 | 89858 | sialic acid binding Ig like lectin 12 (gene/pseudogene) | Q96PQ1 |
| C0015674 | Chronic Fatigue Syndrome | SIGLEC12 | 89858 | sialic acid binding Ig like lectin 12 (gene/pseudogene) | Q96PQ1 |
| C0025517 | Metabolic Diseases | SIGLEC12 | 89858 | sialic acid binding Ig like lectin 12 (gene/pseudogene) | Q96PQ1 |
| C0220981 | Metabolic acidosis | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0268583 | Methylmalonic acidemia | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0268468 | Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
| C0025517 | Metabolic Diseases | MCEE | 84693 | methylmalonyl-CoA epimerase | Q96PE7 |
