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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal dominant hypocalcemia 1
Summary
- Synonym
-
- HYPOC1
- Definition
- An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21.
- Super Class
- autosomal dominant hypocalcemia
External Links
- Disease Ontology
- DOID:0090107
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00325 | All-trans-retinol dehydrogenase [NAD(+)] ADH1B | |
| P00326 | Alcohol dehydrogenase 1C |
