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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 |
|---|---|---|---|---|---|
| C0751435 | Hyperphenylalaninaemia | OGDH | 4967 | oxoglutarate dehydrogenase | Q02218 |
| C0751435 | Hyperphenylalaninaemia | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0751448 | Polyneuropathy, Familial | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0751448 | Polyneuropathy, Familial | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0751449 | Acquired Polyneuropathy | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0751449 | Acquired Polyneuropathy | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0751483 | Familial Retinoblastoma | RENBP | 5973 | renin binding protein | P51606 |
| C0751484 | Sporadic Retinoblastoma | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0751484 | Sporadic Retinoblastoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| 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 |
| C0751489 | Adult Sandhoff Disease | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0751489 | Adult 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 |
| C0751491 | Juvenile Sandhoff Disease | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0751491 | Juvenile Sandhoff Disease | OGA | 10724 | O-GlcNAcase | O60502 |
| C0751494 | Convulsive Seizures | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0751494 | Convulsive Seizures | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751494 | Convulsive Seizures | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0751494 | Convulsive Seizures | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0751494 | Convulsive Seizures | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0751494 | Convulsive Seizures | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0751494 | Convulsive Seizures | PRNP | 5621 | prion protein | P04156 |
| C0751494 | Convulsive Seizures | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
