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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0271386 | Vertical Nystagmus | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0362030 | Verrucous epidermal nevus | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0206706 | Verrucous carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0346054 | Verruciform xanthoma of skin | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0392464 | Ventricular aneurysm | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0018818 | Ventricular Septal Defects | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C0018818 | Ventricular Septal Defects | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0018818 | Ventricular Septal Defects | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0018818 | Ventricular Septal Defects | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0018818 | Ventricular Septal Defects | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C0018818 | Ventricular Septal Defects | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0018818 | Ventricular Septal Defects | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
