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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 |
|---|---|---|---|---|---|
| C0028077 | Nyctalopia | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0028077 | Nyctalopia | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0028077 | Nyctalopia | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0028077 | Nyctalopia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0028077 | Nyctalopia | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0028077 | Nyctalopia | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0028738 | Nystagmus | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0028738 | Nystagmus | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0028738 | Nystagmus | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0028738 | Nystagmus | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0028738 | Nystagmus | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0028738 | Nystagmus | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0028738 | Nystagmus | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0028738 | Nystagmus | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0028738 | Nystagmus | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0028738 | Nystagmus | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0028738 | Nystagmus | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0028738 | Nystagmus | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0028738 | Nystagmus | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0028738 | Nystagmus | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0028738 | Nystagmus | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0028738 | Nystagmus | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
| C0028738 | Nystagmus | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0028738 | Nystagmus | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0028738 | Nystagmus | GALC | 2581 | galactosylceramidase | P54803 |
