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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C3888081 | L-2-hydroxyglutaric acidemia | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| 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 |
| 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 |
| C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | CAT | 847 | catalase | P04040 |
| C3888198 | BESTROPHINOPATHY, AUTOSOMAL RECESSIVE | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C3888239 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C3888317 | Sialidosis, type 2 | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C3888317 | Sialidosis, type 2 | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C3888391 | Nonnuclear polymorphic congenital cataract | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C3888391 | Nonnuclear polymorphic congenital cataract | LGALS1 | 3956 | galectin 1 | P09382 |
| C3888391 | Nonnuclear polymorphic congenital cataract | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
