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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 |
|---|---|---|---|---|---|
| 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 |
| C0038220 | Status Epilepticus | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0029124 | Optic Atrophy | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0004352 | Autistic Disorder | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0019655 | Histoplasmosis | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0023787 | Lipodystrophy | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0025958 | Microcephaly | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0007194 | Hypertrophic Cardiomyopathy | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0009402 | Colorectal Carcinoma | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| 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 |
