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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 |
|---|---|---|---|---|---|
| C0276496 | Familial Alzheimer Disease (FAD) | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0238122 | Fallopian Tube Carcinoma | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C1852222 | Failure of Tooth Eruption, Primary | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0393590 | Fahr's syndrome (disorder) | MYORG | 57462 | myogenesis regulating glycosidase (putative) | Q6NSJ0 |
| C0015526 | Factor XII Deficiency | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C0015526 | Factor XII Deficiency | PGAP1 | 80055 | post-GPI attachment to proteins inositol deacylase 1 | Q75T13 |
| C3494187 | Factor VIII Deficiency | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C3494187 | Factor VIII Deficiency | LMAN1 | 3998 | lectin, mannose binding 1 | P49257 |
| C0015469 | Facial paralysis | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0015469 | Facial paralysis | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0015469 | Facial paralysis | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0015469 | Facial paralysis | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0015469 | Facial paralysis | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0015469 | Facial paralysis | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0015469 | Facial paralysis | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0015469 | Facial paralysis | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0015469 | Facial paralysis | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0015469 | Facial paralysis | ACADS | 35 | acyl-CoA dehydrogenase short chain | P16219 |
| C0015469 | Facial paralysis | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0015469 | Facial paralysis | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0015469 | Facial paralysis | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0015469 | Facial paralysis | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0015469 | Facial paralysis | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0015469 | Facial paralysis | AGRN | 375790 | agrin | O00468 |
| C0015469 | Facial paralysis | MTM1 | 4534 | myotubularin 1 | Q13496 |
