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 |
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DisGeNET | July 29, 2024 |
Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0751494 | Convulsive Seizures | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C0751491 | Juvenile Sandhoff Disease | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
C0751491 | Juvenile Sandhoff Disease | OGA | 10724 | O-GlcNAcase | O60502 |
C0751490 | Infantile Sandhoff Disease | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
C0751490 | Infantile Sandhoff Disease | OGA | 10724 | O-GlcNAcase | O60502 |
C0751489 | Adult Sandhoff Disease | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
C0751489 | Adult Sandhoff Disease | OGA | 10724 | O-GlcNAcase | O60502 |
C0751486 | Reye-Like Syndrome | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
C0751486 | Reye-Like Syndrome | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
C0751484 | Sporadic Retinoblastoma | GPC6 | 10082 | glypican 6 | Q9Y625 |
C0751484 | Sporadic Retinoblastoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
C0751483 | Familial Retinoblastoma | RENBP | 5973 | renin binding protein | P51606 |
C0751449 | Acquired Polyneuropathy | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0751449 | Acquired Polyneuropathy | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
C0751448 | Polyneuropathy, Familial | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0751448 | Polyneuropathy, Familial | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
C0751435 | Hyperphenylalaninaemia | OGDH | 4967 | oxoglutarate dehydrogenase | Q02218 |
C0751435 | Hyperphenylalaninaemia | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
C0751434 | Classical phenylketonuria | CAT | 847 | catalase | P04040 |
C0751434 | Classical phenylketonuria | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
C0751434 | Classical phenylketonuria | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
C0751406 | Post-Traumatic Osteoporosis | GPC6 | 10082 | glypican 6 | Q9Y625 |
C0751406 | Post-Traumatic Osteoporosis | ENO1 | 2023 | enolase 1 | P06733 |
C0751406 | Post-Traumatic Osteoporosis | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
C0751406 | Post-Traumatic Osteoporosis | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
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Last updated: August 19, 2024