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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 |
|---|---|---|---|---|---|
| C0265338 | Coffin-Siris syndrome | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0265338 | Coffin-Siris syndrome | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0265338 | Coffin-Siris syndrome | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0265338 | Coffin-Siris syndrome | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
| C0265338 | Coffin-Siris syndrome | CD14 | 929 | CD14 molecule | P08571 |
| C0265338 | Coffin-Siris syndrome | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0265252 | Coffin-Lowry syndrome | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0265252 | Coffin-Lowry syndrome | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0265252 | Coffin-Lowry syndrome | HSD17B6 | 8630 | hydroxysteroid 17-beta dehydrogenase 6 | O14756 |
| C0265252 | Coffin-Lowry syndrome | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0751038 | Cockayne Syndrome, Type II | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0751038 | Cockayne Syndrome, Type II | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0751039 | Cockayne Syndrome, Type I | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0751039 | Cockayne Syndrome, Type I | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0751039 | Cockayne Syndrome, Type I | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0751039 | Cockayne Syndrome, Type I | CD38 | 952 | CD38 molecule | P28907 |
| C0751039 | Cockayne Syndrome, Type I | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
| C0751039 | Cockayne Syndrome, Type I | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0751039 | Cockayne Syndrome, Type I | ANXA5 | 308 | annexin A5 | P08758 |
| C0751039 | Cockayne Syndrome, Type I | CAT | 847 | catalase | P04040 |
| C0751039 | Cockayne Syndrome, Type I | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0751039 | Cockayne Syndrome, Type I | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0009207 | Cockayne Syndrome | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0009207 | Cockayne Syndrome | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0009207 | Cockayne Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
