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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 |
|---|---|---|---|---|---|
| C0282577 | Congenital Disorders of Glycosylation | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0029456 | Osteoporosis | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0392476 | Epiphyseal dysplasia | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0006826 | Malignant Neoplasms | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| 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 |
| C0158683 | Polycystic liver disease | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0037221 | Situs Inversus | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C2239176 | Liver carcinoma | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C1567435 | Polycystic Kidney - body part | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0027651 | Neoplasms | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0023895 | Liver diseases | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0887850 | Polycystic Kidney, Type 1 Autosomal Dominant Disease | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0017168 | Gastroesophageal reflux disease | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0019163 | Hepatitis B | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0020445 | Hypercholesterolemia, Familial | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0022680 | Polycystic Kidney Diseases | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
