CTNNB1 Gene - CISMeF

Preferred Label : CTNNB1 Gene;

NCIt synonyms : Catenin Beta 1 Gene; CTNNB1;

CISMeF acronym : CTNNB1;

NCIt definition : This gene is involved in signal transduction and regulation of transcription.;

Details

Origin ID

C20987;

UMLS CUI

C1332803;

Automatic exact mappings (from CISMeF team)
- CTNNB1 gene [LOINC component]
- Catenin, beta-1 [OMIM gene]
- catenin beta 1 [ORDO Gene]
HGNC gene
- catenin beta 1 [HGNC gene]
OMIM relation
- Catenin, beta-1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CTNNB1 gene [LOINC component]
- Catenin, beta-1 [OMIM gene]
- catenin beta 1 [HGNC 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
- Catenin Beta-1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- CTNNB1 Gene Mutation [NCIt concept]
gene_involved_in_molecular_abnormality
- CTNNB1 Gene Deletion [NCIt concept]
- CTNNB1 Gene Mutation [NCIt concept]
- CTNNB1 Gene Rearrangement [NCIt concept]
- CTNNB1 NM_001098209.2:c.121A>G [NCIt concept]
- CTNNB1 NM_001904.4:c.100G>A [NCIt concept]
- CTNNB1 NM_001904.4:c.100G>C [NCIt concept]
- CTNNB1 NM_001904.4:c.101G>A [NCIt concept]
- CTNNB1 NM_001904.4:c.101G>T [NCIt concept]
- CTNNB1 NM_001904.4:c.110C>G [NCIt concept]
- CTNNB1 NM_001904.4:c.110C>T [NCIt concept]
- CTNNB1 NM_001904.4:c.122C>T [NCIt concept]
- CTNNB1 NM_001904.4:c.122_123delinsTT [NCIt concept]
- CTNNB1 NM_001904.4:c.133T>C [NCIt concept]
- CTNNB1 NM_001904.4:c.134C>T [NCIt concept]
- CTNNB1 NM_001904.4:c.94G>A [NCIt concept]
- CTNNB1 NM_001904.4:c.94G>T [NCIt concept]
- CTNNB1 NM_001904.4:c.95A>G [NCIt concept]
- CTNNB1 NM_001904.4:c.97T>C [NCIt concept]
- CTNNB1 NM_001904.4:c.98C>G [NCIt concept]
- CTNNB1 NM_001904.4:c.98C>T [NCIt concept]
- CTNNB1 NP_001091679.1:p.T41A [NCIt concept]
- CTNNB1 NP_001895.1:p.D32G [NCIt concept]
- CTNNB1 NP_001895.1:p.D32N [NCIt concept]
- CTNNB1 NP_001895.1:p.D32Y [NCIt concept]
- CTNNB1 NP_001895.1:p.G34E [NCIt concept]
- CTNNB1 NP_001895.1:p.G34R [NCIt concept]
- CTNNB1 NP_001895.1:p.G34V [NCIt concept]
- CTNNB1 NP_001895.1:p.S33C [NCIt concept]
- CTNNB1 NP_001895.1:p.S33F [NCIt concept]
- CTNNB1 NP_001895.1:p.S33P [NCIt concept]
- CTNNB1 NP_001895.1:p.S37C [NCIt concept]
- CTNNB1 NP_001895.1:p.S37F [NCIt concept]
- CTNNB1 NP_001895.1:p.S45F [NCIt concept]
- CTNNB1 NP_001895.1:p.S45P [NCIt concept]
- CTNNB1 NP_001895.1:p.T41I [NCIt concept]
- CTNNB1 Protein Variant [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Adamantinomatous Craniopharyngioma [NCIt concept]
- Adrenal Cortical Carcinoma [NCIt concept]
- Beta-Catenin-Activated Hepatocellular Adenoma [NCIt concept]
- Beta-Catenin-Activated Inflammatory Hepatocellular Adenoma [NCIt concept]
- Hepatoblastoma [NCIt concept]
- Lung Fetal Adenocarcinoma [NCIt concept]
- Non-Functioning Adrenal Cortical Adenoma [NCIt concept]
- Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- Pilomatricoma [NCIt concept]
- Sinonasal Glomangiopericytoma [NCIt concept]
- Sinonasal Tract Angiofibroma [NCIt concept]
- Solid Pseudopapillary Neoplasm [NCIt concept]
gene_mapped_to_disease
- Adamantinomatous Craniopharyngioma [NCIt concept]
- Adrenal Cortical Carcinoma [NCIt concept]
- Adrenal Cortical Carcinoma by AJCC v7 Stage [NCIt concept]
- Adrenal Cortical Carcinoma by AJCC v8 Stage [NCIt concept]
- Adrenal Cortical Carcinoma by ENSAT Stage [NCIt concept]
- Adrenal Cortical High Grade Carcinoma [NCIt concept]
- Adrenal Cortical Low Grade Carcinoma [NCIt concept]
- Adrenal Cortical Myxoid Carcinoma [NCIt concept]
- Adrenal Cortical Oncocytic Carcinoma [NCIt concept]
- Adrenal Cortical Sarcomatoid Carcinoma [NCIt concept]
- Adult Adamantinomatous Craniopharyngioma [NCIt concept]
- Advanced Adrenal Cortical Carcinoma [NCIt concept]
- Advanced Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- Beta-Catenin-Activated Hepatocellular Adenoma [NCIt concept]
- Beta-Catenin-Activated Inflammatory Hepatocellular Adenoma [NCIt concept]
- Childhood Adamantinomatous Craniopharyngioma [NCIt concept]
- Childhood Adrenal Cortical Carcinoma [NCIt concept]
- Childhood Hepatoblastoma by Toronto Guidelines v2 Stage [NCIt concept]
- Childhood Hepatoblastoma by Toronto Guidelines v2 Stage, Tier 1 [NCIt concept]
- Childhood Hepatoblastoma by Toronto Guidelines v2 Stage, Tier 2 [NCIt concept]
- Childhood Pilomatricoma [NCIt concept]
- Childhood Solid Pseudopapillary Neoplasm of the Pancreas [NCIt concept]
- ENSAT Stage I Adrenal Cortical Carcinoma [NCIt concept]
- ENSAT Stage II Adrenal Cortical Carcinoma [NCIt concept]
- ENSAT Stage III Adrenal Cortical Carcinoma [NCIt concept]
- ENSAT Stage IV Adrenal Cortical Carcinoma [NCIt concept]
- Epithelial Hepatoblastoma [NCIt concept]
- Epithelial Hepatoblastoma with Pleomorphic Pattern [NCIt concept]
- FIGO Grade 1 Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- FIGO Grade 2 Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- Hepatoblastoma [NCIt concept]
- Hepatoblastoma by PRETEXT Stage [NCIt concept]
- Hepatoblastoma by Postsurgical Stage [NCIt concept]
- Hepatoblastoma with Combined Fetal and Embryonal Epithelial Differentiation [NCIt concept]
- Hepatoblastoma with Pure Fetal Epithelial Differentiation [NCIt concept]
- Hepatocellular Malignant Neoplasm, Not Otherwise Specified [NCIt concept]
- Localized Childhood Hepatoblastoma by Toronto Guidelines v2, Tier 2 [NCIt concept]
- Localized Childhood Hepatoblastoma by Toronto Guidelines v2, Tier1 [NCIt concept]
- Localized PRETEX I Hepatoblastoma [NCIt concept]
- Localized PRETEX II Hepatoblastoma [NCIt concept]
- Localized PRETEX III Hepatoblastoma [NCIt concept]
- Localized PRETEX IV Hepatoblastoma [NCIt concept]
- Locally Advanced Adrenal Cortical Carcinoma [NCIt concept]
- Lung Fetal Adenocarcinoma [NCIt concept]
- Macrotrabecular Hepatoblastoma [NCIt concept]
- Metastatic Adrenal Cortical Carcinoma [NCIt concept]
- Metastatic Childhood Hepatoblastoma by Toronto Guidelines v2, Tier 1 [NCIt concept]
- Metastatic Childhood Hepatoblastoma by Toronto Guidelines v2, Tier 2 [NCIt concept]
- Metastatic Hepatoblastoma [NCIt concept]
- Metastatic Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- Metastatic PRETEX I Hepatoblastoma [NCIt concept]
- Metastatic PRETEX II Hepatoblastoma [NCIt concept]
- Metastatic PRETEX III Hepatoblastoma [NCIt concept]
- Metastatic PRETEX IV Hepatoblastoma [NCIt concept]
- Mixed Epithelial and Mesenchymal Hepatoblastoma [NCIt concept]
- Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects [NCIt concept]
- Non-Functioning Adrenal Cortical Adenoma [NCIt concept]
- Non-Teratoid Hepatoblastoma [NCIt concept]
- Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation [NCIt concept]
- Ovarian High Grade Endometrioid Adenocarcinoma [NCIt concept]
- Ovarian Low Grade Endometrioid Adenocarcinoma [NCIt concept]
- PRETEXT I Hepatoblastoma [NCIt concept]
- PRETEXT II Hepatoblastoma [NCIt concept]
- PRETEXT III Hepatoblastoma [NCIt concept]
- PRETEXT IV Hepatoblastoma [NCIt concept]
- Pilomatricoma [NCIt concept]
- Postsurgical Stage I Hepatoblastoma [NCIt concept]
- Postsurgical Stage II Hepatoblastoma [NCIt concept]
- Postsurgical Stage III Hepatoblastoma [NCIt concept]
- Postsurgical Stage IV Hepatoblastoma [NCIt concept]
- Recurrent Adamantinomatous Craniopharyngioma [NCIt concept]
- Recurrent Adrenal Cortical Carcinoma [NCIt concept]
- Recurrent Hepatoblastoma [NCIt concept]
- Recurrent Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- Recurrent Ovarian High Grade Endometrioid Adenocarcinoma [NCIt concept]
- Recurrent Ovarian Low Grade Endometrioid Adenocarcinoma [NCIt concept]
- Refractory Adrenal Cortical Carcinoma [NCIt concept]
- Refractory Hepatoblastoma [NCIt concept]
- Refractory Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- Resectable Hepatoblastoma [NCIt concept]
- Sinonasal Glomangiopericytoma [NCIt concept]
- Sinonasal Tract Angiofibroma [NCIt concept]
- Small Cell Undifferentiated Hepatoblastoma [NCIt concept]
- Solid Pseudopapillary Neoplasm [NCIt concept]
- Solid Pseudopapillary Neoplasm of the Ovary [NCIt concept]
- Solid Pseudopapillary Neoplasm of the Pancreas [NCIt concept]
- Stage I Adrenal Cortical Carcinoma AJCC v7 [NCIt concept]
- Stage I Adrenal Cortical Carcinoma AJCC v8 [NCIt concept]
- Stage II Adrenal Cortical Carcinoma AJCC v7 [NCIt concept]
- Stage II Adrenal Cortical Carcinoma AJCC v8 [NCIt concept]
- Stage III Adrenal Cortical Carcinoma AJCC v7 [NCIt concept]
- Stage III Adrenal Cortical Carcinoma AJCC v8 [NCIt concept]
- Stage IV Adrenal Cortical Carcinoma AJCC v7 [NCIt concept]
- Stage IV Adrenal Cortical Carcinoma AJCC v8 [NCIt concept]
- Teratoid Hepatoblastoma [NCIt concept]
- Unresectable Adrenal Cortical Carcinoma [NCIt concept]
- Unresectable Hepatoblastoma [NCIt concept]
- Unresectable Ovarian Endometrioid Adenocarcinoma [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Signal Transduction [NCIt concept]
genetic_biomarker_related_to
- Beta Catenin Measurement [NCIt concept]
- Beta Catenin Staining Method [NCIt concept]
- CTNNB1 Gene Mutation Negative [NCIt concept]
- CTNNB1 Mutation Analysis [NCIt concept]
- CTNNB1 Positive [NCIt concept]
- CTNNB1/PLAG1 Fusion Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients