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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol ▲ | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C4479387 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0266483 | Pachygyria | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0042974 | von Willebrand Disease | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0010414 | Infection by Cryptococcus neoformans | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0016202 | Flatfoot | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0497327 | Dementia | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0024115 | Lung diseases | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0010964 | Dandy-Walker Syndrome | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0243026 | Sepsis | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0010417 | Cryptorchidism | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C1621958 | Glioblastoma Multiforme | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0006142 | Malignant neoplasm of breast | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C1306503 | Congenital exomphalos | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0023787 | Lipodystrophy | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0029464 | Osteosclerosis | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0011334 | Dental caries | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C2931006 | Congenital disorder of glycosylation type 1L | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0017636 | Glioblastoma | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0019294 | Hernia, Inguinal | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0555198 | Malignant Glioma | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
C0013720 | Ehlers-Danlos Syndrome | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
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 |
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Last updated: August 19, 2024