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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 ▼ |
|---|---|---|---|---|---|
| C0494475 | Tonic - clonic seizures | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0936215 | Vitamin B 6 Deficiency | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0000768 | Congenital Abnormality | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0221356 | Brachycephaly | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0036857 | Severe intellectual disability | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0027051 | Myocardial Infarction | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C0007134 | Renal Cell Carcinoma | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C0005695 | Bladder Neoplasm | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C0027651 | Neoplasms | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C0006826 | Malignant Neoplasms | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C1306459 | Primary malignant neoplasm | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C0007131 | Non-Small Cell Lung Carcinoma | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C0005684 | Malignant neoplasm of urinary bladder | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C4721610 | Carcinoma, Ovarian Epithelial | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C1140680 | Malignant neoplasm of ovary | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C0699885 | Carcinoma of bladder | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C0005684 | Malignant neoplasm of urinary bladder | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C0006142 | Malignant neoplasm of breast | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C0025202 | melanoma | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C0005695 | Bladder Neoplasm | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C0678222 | Breast Carcinoma | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C0919267 | ovarian neoplasm | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C0029422 | Osteochondrodysplasias | SLC35D1 | 23169 | solute carrier family 35 member D1 | Q9NTN3 |
| C0024236 | Lymphedema | SLC35D1 | 23169 | solute carrier family 35 member D1 | Q9NTN3 |
| C0008925 | Cleft Palate | SLC35D1 | 23169 | solute carrier family 35 member D1 | Q9NTN3 |
