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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 |
|---|---|---|---|---|---|
| C3266898 | Waardenburg Syndrome | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C3266898 | Waardenburg Syndrome | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C1839736 | WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C3150658 | WARSAW BREAKAGE SYNDROME | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0206115 | WAGR Syndrome | CAT | 847 | catalase | P04040 |
| C0042998 | Vulvovaginitis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0042998 | Vulvovaginitis | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0042995 | Vulvar Neoplasms | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0022783 | Vulvar Lichen Sclerosus | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0022783 | Vulvar Lichen Sclerosus | DCN | 1634 | decorin | P07585 |
| C0022783 | Vulvar Lichen Sclerosus | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1280798 | Von Willebrand disease, platelet type | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0019562 | Von Hippel-Lindau Syndrome | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0019562 | Von Hippel-Lindau Syndrome | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0019562 | Von Hippel-Lindau Syndrome | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0019562 | Von Hippel-Lindau Syndrome | CHGA | 1113 | chromogranin A | P10645 |
| C0019562 | Von Hippel-Lindau Syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0019562 | Von Hippel-Lindau Syndrome | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C0019562 | Von Hippel-Lindau Syndrome | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0019562 | Von Hippel-Lindau Syndrome | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C0019562 | Von Hippel-Lindau Syndrome | SLC2A3 | 6515 | solute carrier family 2 member 3 | P11169 |
| C0019562 | Von Hippel-Lindau Syndrome | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0019562 | Von Hippel-Lindau Syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0019562 | Von Hippel-Lindau Syndrome | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0019562 | Von Hippel-Lindau Syndrome | KLRD1 | 3824 | killer cell lectin like receptor D1 | Q13241 |
