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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 |
|---|---|---|---|---|---|
| C0005744 | Blepharophimosis | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C3665335 | Cutis laxa, autosomal recessive | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0024623 | Malignant neoplasm of stomach | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0011334 | Dental caries | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0235946 | Cerebral atrophy | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0684276 | Hypsarrhythmia | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0009081 | Congenital clubfoot | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0699791 | Stomach Carcinoma | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0027066 | Myoclonus | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0014544 | Epilepsy | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0005745 | Blepharoptosis | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| 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 |
| C0010495 | Cutis Laxa | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0027092 | Myopia | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C4479409 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
