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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 |
|---|---|---|---|---|---|
| C0019562 | Von Hippel-Lindau Syndrome | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0019562 | Von Hippel-Lindau Syndrome | KLRD1 | 3824 | killer cell lectin like receptor D1 | Q13241 |
| C0019562 | Von Hippel-Lindau Syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0019562 | Von Hippel-Lindau Syndrome | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0019562 | Von Hippel-Lindau Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0019562 | Von Hippel-Lindau Syndrome | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1280798 | Von Willebrand disease, platelet type | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| 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 |
| C0042995 | Vulvar Neoplasms | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| 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 |
| C0206115 | WAGR Syndrome | CAT | 847 | catalase | P04040 |
| C3150658 | WARSAW BREAKAGE SYNDROME | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1839736 | WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| 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 |
| C1847800 | Waardenburg Syndrome Type 1 | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0024419 | Waldenstrom Macroglobulinemia | HAS1 | 3036 | hyaluronan synthase 1 | Q92839 |
| C0024419 | Waldenstrom Macroglobulinemia | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0024419 | Waldenstrom Macroglobulinemia | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0024419 | Waldenstrom Macroglobulinemia | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C0024419 | Waldenstrom Macroglobulinemia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0024419 | Waldenstrom Macroglobulinemia | CD38 | 952 | CD38 molecule | P28907 |
