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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 |
|---|---|---|---|---|---|
| C0025958 | Microcephaly | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0025958 | Microcephaly | FKTN | 2218 | fukutin | O75072 |
| C0025958 | Microcephaly | POFUT1 | 23509 | protein O-fucosyltransferase 1 | Q9H488 |
| C0025958 | Microcephaly | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
| C0025958 | Microcephaly | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0025958 | Microcephaly | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C0025958 | Microcephaly | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C0025958 | Microcephaly | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C0025958 | Microcephaly | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0025958 | Microcephaly | SLC35C1 | 55343 | solute carrier family 35 member C1 | Q96A29 |
| C0025958 | Microcephaly | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0025958 | Microcephaly | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0025958 | Microcephaly | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0025958 | Microcephaly | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C0025958 | Microcephaly | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0025958 | Microcephaly | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C0025958 | Microcephaly | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0025958 | Microcephaly | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0025958 | Microcephaly | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0025958 | Microcephaly | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0025958 | Microcephaly | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0025958 | Microcephaly | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0025958 | Microcephaly | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C0025958 | Microcephaly | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0025958 | Microcephaly | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
