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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 |
|---|---|---|---|---|---|
| C0006370 | Bulimia | CALR | 811 | calreticulin | P27797 |
| C0006370 | Bulimia | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0006370 | Bulimia | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0393547 | Bulbospinal Neuronopathy | PRNP | 5621 | prion protein | P04156 |
| C0393547 | Bulbospinal Neuronopathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C1839259 | Bulbo-Spinal Atrophy, X-Linked | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C1839259 | Bulbo-Spinal Atrophy, X-Linked | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C1839259 | Bulbo-Spinal Atrophy, X-Linked | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C1839259 | Bulbo-Spinal Atrophy, X-Linked | PRNP | 5621 | prion protein | P04156 |
| C1839259 | Bulbo-Spinal Atrophy, X-Linked | GFRA1 | 2674 | GDNF family receptor alpha 1 | P56159 |
| C1839259 | Bulbo-Spinal Atrophy, X-Linked | PRNP | 5621 | prion protein | F7VJQ1 |
| C4082299 | Bulbar palsy | ARSA | 410 | arylsulfatase A | P15289 |
| C4082299 | Bulbar palsy | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C4082299 | Bulbar palsy | AGRN | 375790 | agrin | O00468 |
| C0856761 | Budd-Chiari Syndrome | CALR | 811 | calreticulin | P27797 |
| C0856761 | Budd-Chiari Syndrome | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0856761 | Budd-Chiari Syndrome | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0856761 | Budd-Chiari Syndrome | GPLD1 | 2822 | glycosylphosphatidylinositol specific phospholipase D1 | P80108 |
| C0006325 | Bruxism | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C2673193 | Brugada Syndrome 2 | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C4551804 | Brugada Syndrome 1 | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C4551804 | Brugada Syndrome 1 | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C1142166 | Brugada Syndrome (disorder) | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C1142166 | Brugada Syndrome (disorder) | GPD1L | 23171 | glycerol-3-phosphate dehydrogenase 1 like | Q8N335 |
| C1142166 | Brugada Syndrome (disorder) | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
