GNAS Gene - CISMeF

Preferred Label : GNAS Gene;

NCIt synonyms : GNAS Complex Locus Gene; GNAS1;

NCIt related terms : GNAS;

CISMeF acronym : GNAS;

NCIt definition : This gene plays a role in signal transduction and is associated with pituitary tumors.;

Details

Origin ID

C38317;

UMLS CUI

C1366550;

Currated CISMeF NLP mapping
- GNAS complex locus [ORDO Gene]
- Gnas complex locus [OMIM Phenotype]
HGNC gene
- GNAS complex locus [HGNC gene]
OMIM relation
- Gnas complex locus [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- GNAS complex locus [ORDO Gene]
- GNAS complex locus [HGNC gene]
- Gnas complex locus [OMIM Phenotype]
- Gnas complex locus [OMIM gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- GNAS Gene Product [NCIt concept]
- Guanine Nucleotide-Binding Protein G(s) Subunit Alpha Isoforms Short [NCIt concept]
- Guanine Nucleotide-Binding Protein G(s) Subunit Alpha Isoforms XLas [NCIt concept]
- Neuroendocrine Secretory Protein 55 [NCIt concept]
- Protein ALEX [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- GNAS Gene Mutation [NCIt concept]
- GNAS NM_000516.5:c.374A>G [NCIt concept]
- GNAS NM_000516.5:c.478C>T [NCIt concept]
- GNAS NM_000516.5:c.601C>A [NCIt concept]
- GNAS NM_000516.5:c.601C>T [NCIt concept]
- GNAS NM_000516.5:c.602G>A [NCIt concept]
- GNAS NM_000516.5:c.679C>G [NCIt concept]
- GNAS NM_000516.5:c.680A>G [NCIt concept]
- GNAS NM_000516.5:c.680A>T [NCIt concept]
- GNAS NP_000507.1:p.Q125R [NCIt concept]
- GNAS NP_000507.1:p.Q227E [NCIt concept]
- GNAS NP_000507.1:p.Q227L [NCIt concept]
- GNAS NP_000507.1:p.Q227P [NCIt concept]
- GNAS NP_000507.1:p.Q227R [NCIt concept]
- GNAS NP_000507.1:p.R160C [NCIt concept]
- GNAS NP_000507.1:p.R201C [NCIt concept]
- GNAS NP_000507.1:p.R201H [NCIt concept]
- GNAS NP_000507.1:p.R201S [NCIt concept]
- GNAS Protein Variant [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Cellular Myxoma [NCIt concept]
- Fibrous Dysplasia [NCIt concept]
- Intramuscular Myxoma [NCIt concept]
- McCune-Albright Syndrome [NCIt concept]
- Somatotroph Pituitary Neuroendocrine Tumor [NCIt concept]
gene_mapped_to_disease
- Albright Hereditary Osteodystrophy with Multiple Hormone Resistance [NCIt concept]
- Albright Hereditary Osteodystrophy without Multiple Hormone Resistance [NCIt concept]
- Albright's Hereditary Osteodystrophy [NCIt concept]
- Cellular Myxoma [NCIt concept]
- Childhood Fibrous Dysplasia [NCIt concept]
- Craniofacial Fibrous Dysplasia [NCIt concept]
- Densely Granulated Somatotroph Pituitary Neuroendocrine Tumor [NCIt concept]
- Fibrous Dysplasia [NCIt concept]
- Intramuscular Myxoma [NCIt concept]
- McCune-Albright Syndrome [NCIt concept]
- Metastatic Somatotroph Pituitary Neuroendocrine Tumor [NCIt concept]
- Monostotic Fibrous Dysplasia [NCIt concept]
- Polyostotic Fibrous Dysplasia [NCIt concept]
- Somatotroph Pituitary Neuroendocrine Tumor [NCIt concept]
- Sparsely Granulated Somatotroph Pituitary Neuroendocrine Tumor [NCIt concept]
gene_plays_role_in_process
- Environment-to-Cell Communication [NCIt concept]
- G Protein-Coupled Receptor Signaling [NCIt concept]
- GTP Binding [NCIt concept]
- Ligand Binding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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