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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 |
|---|---|---|---|---|---|
| C3714756 | Intellectual Disability | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C3714756 | Intellectual Disability | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C3714756 | Intellectual Disability | PIGG | 54872 | phosphatidylinositol glycan anchor biosynthesis class G | Q5H8A4 |
| C3714756 | Intellectual Disability | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C3714756 | Intellectual Disability | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C3714756 | Intellectual Disability | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C3714756 | Intellectual Disability | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C3714756 | Intellectual Disability | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C3714756 | Intellectual Disability | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C3714756 | Intellectual Disability | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C3714756 | Intellectual Disability | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C3714756 | Intellectual Disability | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C3714756 | Intellectual Disability | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C3714756 | Intellectual Disability | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C3714756 | Intellectual Disability | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C3714756 | Intellectual Disability | HS6ST2 | 90161 | heparan sulfate 6-O-sulfotransferase 2 | Q96MM7 |
| C3714756 | Intellectual Disability | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C3714756 | Intellectual Disability | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C3714756 | Intellectual Disability | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C3714756 | Intellectual Disability | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
| C3714756 | Intellectual Disability | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C3714756 | Intellectual Disability | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C3714756 | Intellectual Disability | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C3714756 | Intellectual Disability | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C3714756 | Intellectual Disability | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
