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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 |
|---|---|---|---|---|---|
| C0751776 | Atypical Inclusion-Body Disease | PRNP | 5621 | prion protein | F7VJQ1 |
| C1266129 | Atypical Lipoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1266129 | Atypical Lipoma | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C1266129 | Atypical Lipoma | TNKS | 8658 | tankyrase | O95271 |
| C1266129 | Atypical Lipoma | CPM | 1368 | carboxypeptidase M | P14384 |
| C1266129 | Atypical Lipoma | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C1266129 | Atypical Lipoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1868596 | Atypical Parkinson Disease | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C1266184 | Atypical Teratoid Rhabdoid Tumor | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1266184 | Atypical Teratoid Rhabdoid Tumor | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1266184 | Atypical Teratoid Rhabdoid Tumor | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C1266184 | Atypical Teratoid Rhabdoid Tumor | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1266184 | Atypical Teratoid Rhabdoid Tumor | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1266184 | Atypical Teratoid Rhabdoid Tumor | CNTN2 | 6900 | contactin 2 | Q02246 |
| C4510873 | Atypical juvenile parkinsonism | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C1412002 | Atypical pneumonia | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C1306803 | Atypical subacute thyroiditis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0236018 | Aura | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0236018 | Aura | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C0236018 | Aura | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1510586 | Autism Spectrum Disorders | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1510586 | Autism Spectrum Disorders | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1510586 | Autism Spectrum Disorders | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C1510586 | Autism Spectrum Disorders | GALNT17 | 64409 | polypeptide N-acetylgalactosaminyltransferase 17 | Q6IS24 |
| C1510586 | Autism Spectrum Disorders | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
