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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hyperekplexia 2
Summary
- Synonym
-
- HKPX2
- Definition
- A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.
- Super Class
- autosomal recessive disease hyperekplexia
External Links
- Disease Ontology
- DOID:0060697
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04156 | Major prion protein |
