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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 |
|---|---|---|---|---|---|
| C0152025 | Polyneuropathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0152025 | Polyneuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0152025 | Polyneuropathy | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0152025 | Polyneuropathy | TKT | 7086 | transketolase | P29401 |
| C0032541 | Polyneuritis | GLO1 | 2739 | glyoxalase I | Q04760 |
| 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 |
| C2350168 | Polymorphic Reticulosis | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0020224 | Polyhydramnios | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0020224 | Polyhydramnios | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0020224 | Polyhydramnios | SLC35D1 | 23169 | solute carrier family 35 member D1 | Q9NTN3 |
| C0020224 | Polyhydramnios | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0020224 | Polyhydramnios | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
| C0020224 | Polyhydramnios | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0020224 | Polyhydramnios | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0020224 | Polyhydramnios | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0020224 | Polyhydramnios | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0020224 | Polyhydramnios | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0020224 | Polyhydramnios | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0020224 | Polyhydramnios | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
