CDKN2A Gene - CISMeF

Preferred Label : CDKN2A Gene;

NCIt synonyms : Cyclin-Dependent Kinase Inhibitor 2A Gene;

NCIt related terms : CDKN2A;

CISMeF acronym : CDKN2A;

NCIt definition : This gene functions as a tumor suppressor and transcriptional regulator.;

Details

Origin ID

C18022;

UMLS CUI

C0525037;

Automatic exact mappings (from CISMeF team)
- CDKN2A gene [LOINC component]
- Cyclin-dependent kinase inhibitor 2a [OMIM gene]
- cyclin dependent kinase inhibitor 2A [ORDO Gene]
- genes, p16 [MeSH Descriptor]
- genes, p16 [MeSH concept]
HGNC gene
- cyclin dependent kinase inhibitor 2A [HGNC gene]
OMIM relation
- Cyclin-dependent kinase inhibitor 2a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- CDKN2A gene [LOINC component]
- Cyclin-dependent kinase inhibitor 2a [OMIM gene]
- cyclin dependent kinase inhibitor 2A [HGNC gene]
- genes, p16 [MeSH concept]
- genes, p16 [MeSH Descriptor]
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
- CDKN2A Gene Product [NCIt concept]
- Cyclin-Dependent Kinase Inhibitor 2A [NCIt concept]
- Tumor Suppressor ARF [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- CDKN2A Gene Amplification [NCIt concept]
- CDKN2A Gene Deletion [NCIt concept]
- CDKN2A Gene Inactivation [NCIt concept]
- CDKN2A Gene Mutation [NCIt concept]
- CDKN2A NM_000077.4:c.151G>A [NCIt concept]
- CDKN2A NM_000077.4:c.152T>A [NCIt concept]
- CDKN2A NM_000077.4:c.247C>T [NCIt concept]
- CDKN2A NM_000077.4:c.248A>C [NCIt concept]
- CDKN2A NM_000077.4:c.248_249delinsCT [NCIt concept]
- CDKN2A NM_000077.4:c.305C>T [NCIt concept]
- CDKN2A NM_000077.4:c.322G>C [NCIt concept]
- CDKN2A NM_000077.4:c.322G>T [NCIt concept]
- CDKN2A NM_000077.4:c.389T>A [NCIt concept]
- CDKN2A NM_000077.4:c.439G>A [NCIt concept]
- CDKN2A NM_000077.4:c.442G>A [NCIt concept]
- CDKN2A NM_000077.4:c.89C>T [NCIt concept]
- CDKN2A NP_000068.1:p.A102V [NCIt concept]
- CDKN2A NP_000068.1:p.A147T [NCIt concept]
- CDKN2A NP_000068.1:p.A148T [NCIt concept]
- CDKN2A NP_000068.1:p.A30V [NCIt concept]
- CDKN2A NP_000068.1:p.D108H [NCIt concept]
- CDKN2A NP_000068.1:p.D108Y [NCIt concept]
- CDKN2A NP_000068.1:p.H83P [NCIt concept]
- CDKN2A NP_000068.1:p.H83Y [NCIt concept]
- CDKN2A NP_000068.1:p.L130Q [NCIt concept]
- CDKN2A NP_000068.1:p.R80X [NCIt concept]
- CDKN2A NP_000068.1:p.V51D [NCIt concept]
- CDKN2A NP_000068.1:p.V51I [NCIt concept]
- CDKN2A Protein Variant [NCIt concept]
- Deleterious CDKN2A Gene Mutation [NCIt concept]
- Germline CDKN2A Gene Mutation [NCIt concept]
- Homozygous CDKN2A Gene Deletion [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Beckwith-Wiedemann Syndrome [NCIt concept]
- Hereditary Atypical Mole Melanoma Syndrome [NCIt concept]
- Hereditary Melanoma with CDKN2A Mutation [NCIt concept]
- Malignant Mesothelioma [NCIt concept]
- Melanoma-Astrocytoma Syndrome [NCIt concept]
- Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Pancreatic Intraepithelial Neoplasia-2 [NCIt concept]
- Skull Base Chordoma [NCIt concept]
gene_mapped_to_disease
- Advanced Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Borderline Resectable Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Clivus Chondroid Chordoma [NCIt concept]
- Clivus Chordoma [NCIt concept]
- Early Stage Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Gallbladder Adenocarcinoma [NCIt concept]
- Gallbladder Adenocarcinoma with Squamous Metaplasia [NCIt concept]
- Gallbladder Adenocarcinoma, Biliary Type [NCIt concept]
- Gallbladder Adenocarcinoma, Gastric Foveolar Type [NCIt concept]
- Gallbladder Adenocarcinoma, Intestinal-Type [NCIt concept]
- Gallbladder Clear Cell Adenocarcinoma [NCIt concept]
- Gallbladder Cribriform Carcinoma [NCIt concept]
- Gallbladder Hepatoid Adenocarcinoma [NCIt concept]
- Gallbladder Intracholecystic Papillary Neoplasm with an Associated Invasive Carcinoma [NCIt concept]
- Gallbladder Mucinous Adenocarcinoma [NCIt concept]
- Gallbladder Mucinous Cystic Neoplasm with an Associated Invasive Carcinoma [NCIt concept]
- Gallbladder Signet Ring Cell Adenocarcinoma [NCIt concept]
- Hereditary Atypical Mole Melanoma Syndrome [NCIt concept]
- Hereditary Melanoma with CDKN2A Mutation [NCIt concept]
- Localized Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Locally Advanced Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Locally Advanced Unresectable Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Melanoma-Astrocytoma Syndrome [NCIt concept]
- Melanoma-Pancreatic Cancer Syndrome [NCIt concept]
- Metastatic Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Oligometastatic Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Pancreatic Colloid Carcinoma [NCIt concept]
- Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Pancreatic Foamy Gland Adenocarcinoma [NCIt concept]
- Pancreatic Hepatoid Adenocarcinoma [NCIt concept]
- Pancreatic Intraepithelial Neoplasia-2 [NCIt concept]
- Pancreatic Medullary Carcinoma [NCIt concept]
- Pancreatic Moderately Differentiated Ductal Adenocarcinoma [NCIt concept]
- Pancreatic Poorly Cohesive Adenocarcinoma [NCIt concept]
- Pancreatic Poorly Differentiated Ductal Adenocarcinoma [NCIt concept]
- Pancreatic Signet Ring Cell Adenocarcinoma [NCIt concept]
- Pancreatic Well Differentiated Ductal Adenocarcinoma [NCIt concept]
- Recurrent Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Refractory Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Resectable Gallbladder Adenocarcinoma [NCIt concept]
- Resectable Pancreatic Ductal Adenocarcinoma [NCIt concept]
- Sellar Chondroid Chordoma [NCIt concept]
- Sellar Chordoma [NCIt concept]
- Sellar Dedifferentiated Chordoma [NCIt concept]
- Skull Base Chordoma [NCIt concept]
- Unresectable Gallbladder Adenocarcinoma [NCIt concept]
- Unresectable Pancreatic Ductal Adenocarcinoma [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Process [NCIt concept]
- Cell Cycle Progression [NCIt concept]
- Cell Cycle Regulation Process [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- Cell Growth Regulation [NCIt concept]
- Negative Regulation of G1 Phase [NCIt concept]
- Tumor Suppression [NCIt concept]
genetic_biomarker_related_to
- CDKN2A Gene Mutation Negative [NCIt concept]
- CDKN2A Negative [NCIt concept]
- CDKN2A-p16 Negative [NCIt concept]
- CDKN2A-p16 Positive [NCIt concept]
- Genetic Predisposition to Melanoma [NCIt concept]
- Hereditary Melanoma [NCIt concept]
- Hereditary Melanoma with CDKN2A Mutation [NCIt concept]
- Melanoma-Astrocytoma Syndrome [NCIt concept]
- Melanoma-Pancreatic Cancer Syndrome [NCIt concept]
- p16 Immunohistochemical Expression Analysis [NCIt concept]
- p16 Positive by Immunohistochemistry [NCIt concept]
- p16-INK4A Measurement [NCIt concept]
- p16-Positive Neoplastic Cells Present [NCIt concept]

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