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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name ▲ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0392464 | Ventricular aneurysm | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
C0346054 | Verruciform xanthoma of skin | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
C0206706 | Verrucous carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C0362030 | Verrucous epidermal nevus | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0271386 | Vertical Nystagmus | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
C0042571 | Vertigo | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C0042571 | Vertigo | GLA | 2717 | galactosidase alpha | P06280 |
C0042571 | Vertigo | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
C0042571 | Vertigo | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
C0042571 | Vertigo | COMT | 1312 | catechol-O-methyltransferase | P21964 |
C0042571 | Vertigo | GYG1 | 2992 | glycogenin 1 | P46976 |
C0042571 | Vertigo | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
C0042571 | Vertigo | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
C0042571 | Vertigo | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
C0042571 | Vertigo | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CPT1B | 1375 | carnitine palmitoyltransferase 1B | Q92523 |
C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | LPIN1 | 23175 | lipin 1 | Q14693 |
C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | ACADL | 33 | acyl-CoA dehydrogenase long chain | P28330 |
C0042580 | Vesico-Ureteral Reflux | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
C0042580 | Vesico-Ureteral Reflux | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
C0042580 | Vesico-Ureteral Reflux | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
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Last updated: August 19, 2024