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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 |
|---|---|---|---|---|---|
| C0009021 | Clonorchiasis | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0009021 | Clonorchiasis | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0009080 | Clubbed Fingers | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0009080 | Clubbed Fingers | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C0009080 | Clubbed Fingers | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
| C0009080 | Clubbed Fingers | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0009080 | Clubbed Fingers | SFTPC | 6440 | surfactant protein C | P11686 |
| C0233844 | Clumsiness | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0233844 | Clumsiness | ARSA | 410 | arylsulfatase A | P15289 |
| C0233844 | Clumsiness | PSAP | 5660 | prosaposin | P07602 |
| C0233844 | Clumsiness | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0233844 | Clumsiness | PRNP | 5621 | prion protein | P04156 |
| C0233844 | Clumsiness | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0233844 | Clumsiness | PRNP | 5621 | prion protein | F7VJQ1 |
| C0520947 | Clumsiness - motor delay | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0520947 | Clumsiness - motor delay | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0520947 | Clumsiness - motor delay | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0520947 | Clumsiness - motor delay | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0520947 | Clumsiness - motor delay | FKTN | 2218 | fukutin | O75072 |
| C0520947 | Clumsiness - motor delay | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0520947 | Clumsiness - motor delay | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0520947 | Clumsiness - motor delay | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0520947 | Clumsiness - motor delay | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0520947 | Clumsiness - motor delay | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0520947 | Clumsiness - motor delay | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
