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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 |
|---|---|---|---|---|---|
| C0008489 | Chorea | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0036572 | Seizures | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C2239176 | Liver carcinoma | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0234533 | Generalized seizures | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0038379 | Strabismus | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C1527366 | Salaam Seizures | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0027765 | nervous system disorder | MANEAL | 149175 | mannosidase endo-alpha like | Q5VSG8 |
| C0524851 | Neurodegenerative Disorders | MANEAL | 149175 | mannosidase endo-alpha like | Q5VSG8 |
| C2931187 | Nephropathic cystinosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C4316899 | Cystinosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0268626 | Juvenile nephropathic cystinosis (disorder) | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0015624 | Fanconi Syndrome | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C2931013 | Cystinosis, benign, nonnephropathic | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0235946 | Cerebral atrophy | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0085078 | Lysosomal Storage Diseases | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0030567 | Parkinson Disease | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0341703 | Adult Fanconi syndrome | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C1565489 | Renal Insufficiency | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0022658 | Kidney Diseases | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C2749685 | CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0035309 | Retinal Diseases | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0021364 | Male infertility | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0020619 | Hypogonadism | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0020620 | Hypohidrosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C0020621 | Hypokalemia | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
