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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 |
|---|---|---|---|---|---|
| C0018798 | Congenital Heart Defects | GCK | 2645 | glucokinase | P35557 |
| C0018798 | Congenital Heart Defects | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0018798 | Congenital Heart Defects | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0018798 | Congenital Heart Defects | ARSD | 414 | arylsulfatase D | P51689 |
| C0018798 | Congenital Heart Defects | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C0018798 | Congenital Heart Defects | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0018798 | Congenital Heart Defects | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0018798 | Congenital Heart Defects | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0018798 | Congenital Heart Defects | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0018798 | Congenital Heart Defects | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0018798 | Congenital Heart Defects | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0020256 | Congenital Hydrocephalus | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0020256 | Congenital Hydrocephalus | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0020256 | Congenital Hydrocephalus | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C3888018 | Congenital Hyperinsulinism | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C3888018 | Congenital Hyperinsulinism | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C3888018 | Congenital Hyperinsulinism | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C3888018 | Congenital Hyperinsulinism | CEL | 1056 | carboxyl ester lipase | P19835 |
| C3888018 | Congenital Hyperinsulinism | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C3888018 | Congenital Hyperinsulinism | HAO2 | 51179 | hydroxyacid oxidase 2 | Q9NYQ3 |
| C3888018 | Congenital Hyperinsulinism | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C3888018 | Congenital Hyperinsulinism | GCK | 2645 | glucokinase | P35557 |
| C3888018 | Congenital Hyperinsulinism | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
| C3888018 | Congenital Hyperinsulinism | HADH | 3033 | hydroxyacyl-CoA dehydrogenase | Q16836 |
| C3888018 | Congenital Hyperinsulinism | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
