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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
holoprosencephaly 1
Summary
- Synonym
-
- HPE1
- Definition
- A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3.
- Super Class
- autosomal dominant disease holoprosencephaly
External Links
- Disease Ontology
- DOID:0110881
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 23556 | PIGN | phosphatidylinositol glycan anchor biosynthesis class N | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 79147 | FKRP | fukutin related protein | |
| 80055 | PGAP1 | post-GPI attachment to proteins inositol deacylase 1 | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75072 | Ribitol-5-phosphate transferase FKTN | |
| O95427 | GPI ethanolamine phosphate transferase 1 | |
| O95461 | Xylosyl- and glucuronyltransferase LARGE1 | |
| P04040 | Catalase | |
| P21964 | Catechol O-methyltransferase | |
| P32004 | Neural cell adhesion molecule L1 | |
| P48449 | Lanosterol synthase | |
| P54826 | Growth arrest-specific protein 1 | |
| Q13724 | Mannosyl-oligosaccharide glucosidase | |
| Q75T13 | GPI inositol-deacylase |
