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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 |
|---|---|---|---|---|---|
| C0009447 | Common Variable Immunodeficiency | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0009447 | Common Variable Immunodeficiency | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0009447 | Common Variable Immunodeficiency | CDH13 | 1012 | cadherin 13 | P55290 |
| C0009447 | Common Variable Immunodeficiency | FCN2 | 2220 | ficolin 2 | Q15485 |
| C0009447 | Common Variable Immunodeficiency | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C0009443 | Common Cold | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0009443 | Common Cold | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0009443 | Common Cold | SELP | 6403 | selectin P | P16109 |
| C0009443 | Common Cold | PLAAT3 | 11145 | phospholipase A and acyltransferase 3 | P53816 |
| C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0009404 | Colorectal Neoplasms | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0009404 | Colorectal Neoplasms | MGAT4A | 11320 | alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A | Q9UM21 |
| C0009404 | Colorectal Neoplasms | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0009404 | Colorectal Neoplasms | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0009404 | Colorectal Neoplasms | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C0009404 | Colorectal Neoplasms | GALNT12 | 79695 | polypeptide N-acetylgalactosaminyltransferase 12 | Q8IXK2 |
| C0009404 | Colorectal Neoplasms | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0009404 | Colorectal Neoplasms | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0009404 | Colorectal Neoplasms | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C0009404 | Colorectal Neoplasms | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0009404 | Colorectal Neoplasms | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0009404 | Colorectal Neoplasms | HPSE | 10855 | heparanase | Q9Y251 |
