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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 |
|---|---|---|---|---|---|
| C0018824 | Heart valve disease | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| 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 |
| C0018818 | Ventricular Septal Defects | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0018818 | Ventricular Septal Defects | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0018818 | Ventricular Septal Defects | ARSA | 410 | arylsulfatase A | P15289 |
| C0018818 | Ventricular Septal Defects | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0018818 | Ventricular Septal Defects | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0018818 | Ventricular Septal Defects | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C0018818 | Ventricular Septal Defects | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0018818 | Ventricular Septal Defects | TMEM260 | 54916 | transmembrane protein 260 | Q9NX78 |
| C0018818 | Ventricular Septal Defects | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0018818 | Ventricular Septal Defects | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0018818 | Ventricular Septal Defects | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0018818 | Ventricular Septal Defects | ARSH | 347527 | arylsulfatase family member H | Q5FYA8 |
| C0018818 | Ventricular Septal Defects | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0018818 | Ventricular Septal Defects | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0018818 | Ventricular Septal Defects | GPC3 | 2719 | glypican 3 | P51654 |
| C0018818 | Ventricular Septal Defects | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0018818 | Ventricular Septal Defects | TALDO1 | 6888 | transaldolase 1 | P37837 |
