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
Displaying entries 1 - 10 of 18 in total
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024