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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 |
|---|---|---|---|---|---|
| C0036572 | Seizures | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0013384 | Dyskinetic syndrome | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0015934 | Fetal Growth Retardation | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0018817 | Atrial Septal Defects | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0086543 | Cataract | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0017168 | Gastroesophageal reflux disease | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0036341 | Schizophrenia | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0206733 | Strawberry nevus of skin | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0014390 | Entropion | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0268355 | Cutis Laxa, Autosomal Recessive, Type IIA | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0019294 | Hernia, Inguinal | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0041296 | Tuberculosis | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C2711227 | Steatohepatitis | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0023530 | Leukopenia | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0024301 | Lymphoma, Follicular | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0020490 | Hyperopia | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0023895 | Liver diseases | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0010495 | Cutis Laxa | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0027651 | Neoplasms | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0282577 | Congenital Disorders of Glycosylation | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0267963 | Exocrine pancreatic insufficiency | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0015695 | Fatty Liver | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C0242379 | Malignant neoplasm of lung | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0006826 | Malignant Neoplasms | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0020538 | Hypertensive disease | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
