GNAS Gene Mutation

Preferred Label : GNAS Gene Mutation;

NCIt synonyms : Gsalpha Gene Mutation; GNAS1 Gene Mutation; GNAS Complex Locus Gene Mutation;

NCIt definition : A change in the nucleotide sequence of the GNAS gene.;

Details

Origin ID

C45930;

UMLS CUI

C1708260;

Molecular abnormality of diseases
- 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]
- Juvenile Bilateral Ovarian Granulosa Cell Tumor [NCIt concept]
- Juvenile Ovarian Granulosa Cell Tumor [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]
- Thyroid Gland Follicular Adenoma with Papillary Architecture [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- 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]
is_molecular_abnormality_of_disease
- McCune-Albright Syndrome [NCIt concept]
is_not_molecular_abnormality_of_disease
- Juxta-Articular Myxoma [NCIt concept]
molecular_abnormality_involves_gene
- GNAS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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