SDHA Gene - CISMeF

Preferred Label : SDHA Gene;

NCIt synonyms : Succinate Dehydrogenase Complex, Subunit A, Flavoprotein (Fp) Gene;

NCIt related terms : SDHA;

CISMeF acronym : SDHA;

NCIt definition : This gene is involved in the mitochondrial respiratory chain.;

Détails

Origin ID

C103873;

UMLS CUI

C1419906;

Automatic exact mappings (from CISMeF team)
- SDHA gene [LOINC component]
- Succinate dehydrogenase complex, flavoprotein subunit a [OMIM gene]
- succinate dehydrogenase complex flavoprotein subunit A [ORDO Gene]
HGNC gene
- succinate dehydrogenase complex flavoprotein subunit A [HGNC gene]
OMIM relation
- Succinate dehydrogenase complex, flavoprotein subunit a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- SDHA gene [LOINC component]
- Succinate dehydrogenase complex, flavoprotein subunit a [OMIM gene]
- succinate dehydrogenase complex flavoprotein subunit A [HGNC gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Reference Gene Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
gene_encodes_gene_product
- Succinate Dehydrogenase [Ubiquinone] Flavoprotein Subunit, Mitochondrial [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- SDHA Gene Mutation [NCIt concept]
- SDHA NM_004168.3:c.1660C>T [NCIt concept]
- SDHA NP_004159.2:p.R554W [NCIt concept]
- SDHA Protein Variant [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hereditary Paraganglioma [NCIt concept]
- Hereditary Paraganglioma-Pheochromocytoma Syndrome [NCIt concept]
- Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumor [NCIt concept]
- Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
- Succinate Dehydrogenase-Deficient Tumor Syndrome [NCIt concept]
gene_mapped_to_disease
- Advanced Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
- Hereditary Adrenal Gland Pheochromocytoma [NCIt concept]
- Hereditary Paraganglioma [NCIt concept]
- Hereditary Paraganglioma-Pheochromocytoma Syndrome [NCIt concept]
- Metastatic Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
- Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumor [NCIt concept]
- Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
- Succinate Dehydrogenase-Deficient Tumor Syndrome [NCIt concept]
- Unresectable Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
gene_plays_role_in_process
- Cell Respiration [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
genetic_biomarker_related_to
- Loss of SDH Expression [NCIt concept]
- Not Known if SDH Complex Mutation Analysis Was Performed [NCIt concept]
- SDH Complex Alteration Positive [NCIt concept]
- SDH Complex Gene Mutation [NCIt concept]
- SDH Complex Gene Mutation Negative [NCIt concept]
- SDH Complex Mutation Analysis [NCIt concept]
- SDH Complex Mutation Analysis Testing Method [NCIt concept]
- SDH Complex Mutation Analysis Was Not Performed [NCIt concept]
- SDH Complex Mutation Analysis Was Performed [NCIt concept]
- SDHA Negative [NCIt concept]
- SDHA Positive [NCIt concept]
- Specify SDH Complex Mutation [NCIt concept]
- Succinate Dehydrogenase Deficiency [NCIt concept]
- Succinate Dehydrogenase-Deficient Tumor Syndrome [NCIt concept]
- Was SDH Complex Mutation Analysis Performed Question [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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