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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 |
|---|---|---|---|---|---|
| C0796206 | Atkin syndrome | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0796160 | MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0796160 | MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0796160 | MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0796160 | MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0796160 | MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0796154 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0796154 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0796154 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | COLGALT1 | 79709 | collagen beta(1-O)galactosyltransferase 1 | Q8NBJ5 |
| C0796154 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C0796154 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0796154 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | NAMPT | 10135 | nicotinamide phosphoribosyltransferase | P43490 |
| C0796154 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | GPC5 | 2262 | glypican 5 | P78333 |
| C0796154 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | GPC3 | 2719 | glypican 3 | P51654 |
| C0796154 | SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 | GPC1 | 2817 | glypican 1 | P35052 |
| C0796149 | Scott Syndrome | ANXA5 | 308 | annexin A5 | P08758 |
| C0796135 | Renpenning syndrome 1 | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0796135 | Renpenning syndrome 1 | STS | 412 | steroid sulfatase | P08842 |
| C0796074 | MOHR-TRANEBJAERG SYNDROME | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0796074 | MOHR-TRANEBJAERG SYNDROME | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0796074 | MOHR-TRANEBJAERG SYNDROME | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0796074 | MOHR-TRANEBJAERG SYNDROME | CHGA | 1113 | chromogranin A | P10645 |
| C0796074 | MOHR-TRANEBJAERG SYNDROME | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0796074 | MOHR-TRANEBJAERG SYNDROME | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0796074 | MOHR-TRANEBJAERG SYNDROME | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
