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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 |
|---|---|---|---|---|---|
| C0022333 | Jacksonian Seizure | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0236736 | Cocaine-Related Disorders | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0003469 | Anxiety Disorders | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0001973 | Alcoholic Intoxication, Chronic | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0234533 | Generalized seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0023520 | Leukodystrophy | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0494475 | Tonic - clonic seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0234535 | Clonic Seizures | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0740858 | Substance abuse problem | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0751882 | Myasthenic Syndromes, Congenital | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C3714756 | Intellectual Disability | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C3553645 | MYASTHENIC SYNDROME, CONGENITAL, 13 | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0520947 | Clumsiness - motor delay | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0026848 | Myopathy | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0282577 | Congenital Disorders of Glycosylation | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0015310 | Exotropia | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C4317295 | Congenital disorder of glycosylation type 1s | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0024623 | Malignant neoplasm of stomach | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0028738 | Nystagmus | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0006142 | Malignant neoplasm of breast | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C2931004 | Congenital disorder of glycosylation type 1J | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0023281 | Leishmaniasis | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0020725 | Type II Mucolipidosis | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0009404 | Colorectal Neoplasms | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
