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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 |
|---|---|---|---|---|---|
| C0009404 | Colorectal Neoplasms | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0009404 | Colorectal Neoplasms | PRNP | 5621 | prion protein | F7VJQ1 |
| C0009404 | Colorectal Neoplasms | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C0009404 | Colorectal Neoplasms | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0009404 | Colorectal Neoplasms | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| 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 |
| 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 |
| C0009447 | Common Variable Immunodeficiency | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0009447 | Common Variable Immunodeficiency | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0009447 | Common Variable Immunodeficiency | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0009447 | Common Variable Immunodeficiency | SDC1 | 6382 | syndecan 1 | P18827 |
| C0009447 | Common Variable Immunodeficiency | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C0009447 | Common Variable Immunodeficiency | CD38 | 952 | CD38 molecule | P28907 |
| C0009447 | Common Variable Immunodeficiency | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0009447 | Common Variable Immunodeficiency | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0009447 | Common Variable Immunodeficiency | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0009447 | Common Variable Immunodeficiency | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0009447 | Common Variable Immunodeficiency | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0009447 | Common Variable Immunodeficiency | CD1D | 912 | CD1d molecule | P15813 |
