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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 |
|---|---|---|---|---|---|
| C0020224 | Polyhydramnios | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0020224 | Polyhydramnios | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0020224 | Polyhydramnios | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0020224 | Polyhydramnios | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0020224 | Polyhydramnios | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C2350168 | Polymorphic Reticulosis | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0032533 | Polymyalgia Rheumatica | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0032533 | Polymyalgia Rheumatica | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0032533 | Polymyalgia Rheumatica | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0032533 | Polymyalgia Rheumatica | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0032533 | Polymyalgia Rheumatica | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0032533 | Polymyalgia Rheumatica | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0032533 | Polymyalgia Rheumatica | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0032541 | Polyneuritis | GLO1 | 2739 | glyoxalase I | Q04760 |
| C0152025 | Polyneuropathy | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0152025 | Polyneuropathy | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0152025 | Polyneuropathy | ARSA | 410 | arylsulfatase A | P15289 |
| C0152025 | Polyneuropathy | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0152025 | Polyneuropathy | PSAP | 5660 | prosaposin | P07602 |
| C0152025 | Polyneuropathy | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0152025 | Polyneuropathy | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0152025 | Polyneuropathy | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0152025 | Polyneuropathy | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0152025 | Polyneuropathy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0152025 | Polyneuropathy | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
