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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 |
|---|---|---|---|---|---|
| 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 |
| C4479387 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0028738 | Nystagmus | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0020490 | Hyperopia | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0035304 | Retinal Degeneration | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0018802 | Congestive heart failure | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0038379 | Strabismus | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C1263846 | Attention deficit hyperactivity disorder | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C4479409 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0020608 | Hypodontia | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0010964 | Dandy-Walker Syndrome | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C3714756 | Intellectual Disability | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0520947 | Clumsiness - motor delay | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0431663 | Bilateral Cryptorchidism | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0013336 | Dwarfism | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0266551 | Congenital coloboma of iris | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0497327 | Dementia | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0266483 | Pachygyria | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0085584 | Encephalopathies | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
