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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 |
|---|---|---|---|---|---|
| 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 |
| C3887499 | Renal cyst | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C1720416 | Episodic ataxia type 2 (disorder) | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0005283 | beta Thalassemia | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C1832884 | Hemiplegic migraine, familial type 1 | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0394006 | Dysequilibrium syndrome | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0678222 | Breast Carcinoma | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0006142 | Malignant neoplasm of breast | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | PPP1R3A | 5506 | protein phosphatase 1 regulatory subunit 3A | Q16821 |
| C0006142 | Malignant neoplasm of breast | PPP1R3A | 5506 | protein phosphatase 1 regulatory subunit 3A | Q16821 |
| C0271650 | Impaired glucose tolerance | PPP1R3A | 5506 | protein phosphatase 1 regulatory subunit 3A | Q16821 |
| C0018802 | Congestive heart failure | PPP1R3A | 5506 | protein phosphatase 1 regulatory subunit 3A | Q16821 |
| C0024299 | Lymphoma | PPP1R3A | 5506 | protein phosphatase 1 regulatory subunit 3A | Q16821 |
| C0023470 | Myeloid Leukemia | PPP1R3A | 5506 | protein phosphatase 1 regulatory subunit 3A | Q16821 |
| C0011847 | Diabetes | PPP1R3A | 5506 | protein phosphatase 1 regulatory subunit 3A | Q16821 |
| C0007097 | Carcinoma | PPP1R3A | 5506 | protein phosphatase 1 regulatory subunit 3A | Q16821 |
| C0006826 | Malignant Neoplasms | PPP1R3A | 5506 | protein phosphatase 1 regulatory subunit 3A | Q16821 |
| C0004238 | Atrial Fibrillation | PPP1R3A | 5506 | protein phosphatase 1 regulatory subunit 3A | Q16821 |
| C1306459 | Primary malignant neoplasm | PPP1R3A | 5506 | protein phosphatase 1 regulatory subunit 3A | Q16821 |
