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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 |
|---|---|---|---|---|---|
| C0270824 | Visual seizure | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0270824 | Visual seizure | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0270824 | Visual seizure | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0270824 | Visual seizure | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0270824 | Visual seizure | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C3665347 | Visual Impairment | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C3665347 | Visual Impairment | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3665347 | Visual Impairment | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C3665347 | Visual Impairment | FKTN | 2218 | fukutin | O75072 |
| C3665347 | Visual Impairment | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3665347 | Visual Impairment | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C3665347 | Visual Impairment | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C3665347 | Visual Impairment | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C3665347 | Visual Impairment | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C3665347 | Visual Impairment | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C3665347 | Visual Impairment | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C3665347 | Visual Impairment | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C3665347 | Visual Impairment | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C3665347 | Visual Impairment | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C3665347 | Visual Impairment | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C3665347 | Visual Impairment | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C3665347 | Visual Impairment | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C3665347 | Visual Impairment | HK1 | 3098 | hexokinase 1 | P19367 |
| C3665347 | Visual Impairment | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C3665347 | Visual Impairment | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
