GNA11 wt Allele

Preferred Label : GNA11 wt Allele;

NCIt synonyms : GNA-11; HHC2; Hypocalciuric Hypercalcemia 2 Gene; GA11; Guanine Nucleotide Binding Protein (G Protein), Alpha 11 (Gq Class) Gene; G Protein Subunit Alpha 11 wt Allele; FBH2; HYPOC2; Guanine Nucleotide-Binding Protein, Alpha-11 Gene; FHH2; FBH;

NCIt definition : Human GNA11 wild-type allele is located in the vicinity of 19p13.3 and is approximately 27 kb in length. This allele, which encodes guanine nucleotide-binding protein subunit alpha-11 protein, plays a role in the modulation of intracellular signaling.;

GenBank Accession Number : AF493900;

Details

Origin ID

C89718;

UMLS CUI

C2983089;

Automatic exact mappings (from CISMeF team)
- Familial hypocalciuric hypercalcemia [ORDO Disease]
- G protein subunit alpha 11 [ORDO Gene]
- Guanine nucleotide-binding protein, alpha-11 [OMIM gene]
- Hypocalcemia, autosomal dominant 2 [OMIM Phenotype]
- Hypocalciuric hypercalcemia, familial, type II [OMIM Phenotype]
- autosomal dominant hypocalcemia 2 [DO Concept]
- familial hypocalciuric hypercalcemia [DO Concept]
- familial hypocalciuric hypercalcemia 2 [DO Concept]
OMIM relation
- Guanine nucleotide-binding protein, alpha-11 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19p13.3 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Uveal Melanoma [NCIt concept]
gene_is_element_in_pathway
- Phospholipase C Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Calcium Signaling [NCIt concept]
- Environment-to-Cell Communication [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- GTP Binding [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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