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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 |
|---|---|---|---|
| 847 | CAT | catalase | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 1571 | CYP2E1 | cytochrome P450 family 2 subfamily E member 1 | |
| 2218 | FKTN | fukutin | |
| 2619 | GAS1 | growth arrest specific 1 | |
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 4047 | LSS | lanosterol synthase | |
| 7841 | MOGS | mannosyl-oligosaccharide glucosidase | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase |
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 |
