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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
