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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 |
|---|---|---|---|---|---|
| C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | CAT | 847 | catalase | P04040 |
| C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C3888093 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C3888093 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 | SULT2B1 | 6820 | sulfotransferase family 2B member 1 | O00204 |
| C3888088 | SMITH-MCCORT DYSPLASIA 1 | KL | 9365 | klotho | Q9UEF7 |
| C3888088 | SMITH-MCCORT DYSPLASIA 1 | VCAN | 1462 | versican | P13611 |
| C3888088 | SMITH-MCCORT DYSPLASIA 1 | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C3888088 | SMITH-MCCORT DYSPLASIA 1 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3888081 | L-2-hydroxyglutaric acidemia | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C3888065 | ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT | LYZ | 4069 | lysozyme | P61626 |
| C3888065 | ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT | CD38 | 952 | CD38 molecule | P28907 |
| C3888065 | ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| 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 |
| C3888004 | HERMANSKY-PUDLAK SYNDROME 5 | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C3887980 | Protanomaly | CD74 | 972 | CD74 molecule | P04233 |
