PTEN Gene - CISMeF

Preferred Label : PTEN Gene;

NCIt synonyms : Phosphatase and Tensin Homolog Gene;

NCIt related terms : PTEN;

CISMeF acronym : PTEN;

NCIt definition : This gene plays a role in signal transduction and apoptosis. It is also involved in the regulation of cell cycle progression.;

Details

Origin ID

C18256;

UMLS CUI

C0694888;

Currated CISMeF NLP mapping
- PTEN gene [LOINC component]
- Phosphatase and tensin homolog [OMIM gene]
- phosphatase and tensin homolog [ORDO Gene]
HGNC gene
- phosphatase and tensin homolog [HGNC gene]
OMIM relation
- Phosphatase and tensin homolog [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PTEN gene [LOINC component]
- Phosphatase and tensin homolog [OMIM gene]
- phosphatase and tensin homolog [ORDO Gene]
- phosphatase and tensin homolog [HGNC gene]
concept_is_in_subset
- CCPS Genetics Terminology [NCIt concept]
- CTDC Value Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease 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_associated_with_disease
- Meningioma [NCIt concept]
- Oligodendroglioma [NCIt concept]
- Prostate Carcinoma [NCIt concept]
- Thyroid Gland Follicular Carcinoma [NCIt concept]
gene_encodes_gene_product
- Phosphatidylinositol 3,4,5-Trisphosphate 3-Phosphatase and Dual-Specificity Protein Phosphatase PTEN [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- PTEN Gene Inactivation [NCIt concept]
gene_involved_in_molecular_abnormality
- Activating PTEN Gene Mutation [NCIt concept]
- Deleterious PTEN Gene Mutation [NCIt concept]
- Non-Synonymous PTEN Gene Mutation [NCIt concept]
- PTEN Gene Deletion [NCIt concept]
- PTEN Gene Frameshift Mutation [NCIt concept]
- PTEN Gene Inactivation [NCIt concept]
- PTEN Gene Mutation [NCIt concept]
- PTEN Gene Nonsense Mutation [NCIt concept]
- PTEN NM_000314.7:c.388C>G [NCIt concept]
- PTEN NM_000314.7:c.389G>A [NCIt concept]
- PTEN NM_000314.7:c.389G>C [NCIt concept]
- PTEN NM_000314.7:c.389G>T [NCIt concept]
- PTEN NM_000314.7:c.545T>A [NCIt concept]
- PTEN NM_000314.7:c.545T>G [NCIt concept]
- PTEN NP_000305.3:p.L182 Frameshift [NCIt concept]
- PTEN NP_000305.3:p.L182* [NCIt concept]
- PTEN NP_000305.3:p.R130G [NCIt concept]
- PTEN NP_000305.3:p.R130L [NCIt concept]
- PTEN NP_000305.3:p.R130P [NCIt concept]
- PTEN NP_000305.3:p.R130Q [NCIt concept]
- PTEN Protein Variant [NCIt concept]
- del(10q23)/PTEN Gene Locus Deletion [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Dysplastic Cerebellar Gangliocytoma [NCIt concept]
- Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- PTEN Hamartoma Tumor Syndrome [NCIt concept]
- Vulvar Squamous Cell Carcinoma [NCIt concept]
gene_mapped_to_disease
- Advanced Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- Bannayan-Riley-Ruvalcaba Syndrome [NCIt concept]
- Bartholin Gland Squamous Cell Carcinoma [NCIt concept]
- Cowden Syndrome [NCIt concept]
- Dysplastic Cerebellar Gangliocytoma [NCIt concept]
- FIGO Grade 1 Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- FIGO Grade 2 Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- Human Papillomavirus-Independent Vulvar Squamous Cell Carcinoma [NCIt concept]
- Human Papillomavirus-Related Vulvar Squamous Cell Carcinoma [NCIt concept]
- Metastatic Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- Metastatic Vulvar Squamous Cell Carcinoma [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]
- PTEN Deficiency [NCIt concept]
- PTEN Hamartoma Tumor Syndrome [NCIt concept]
- Proteus-Like Syndrome [NCIt concept]
- Recurrent Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- Recurrent Ovarian High Grade Endometrioid Adenocarcinoma [NCIt concept]
- Recurrent Ovarian Low Grade Endometrioid Adenocarcinoma [NCIt concept]
- Recurrent Vulvar Squamous Cell Carcinoma [NCIt concept]
- Refractory Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- Refractory Vulvar Squamous Cell Carcinoma [NCIt concept]
- Unresectable Ovarian Endometrioid Adenocarcinoma [NCIt concept]
- Unresectable Vulvar Squamous Cell Carcinoma [NCIt concept]
- Vulvar Basaloid Squamous Cell Carcinoma [NCIt concept]
- Vulvar Keratinizing Squamous Cell Carcinoma [NCIt concept]
- Vulvar Keratoacanthoma [NCIt concept]
- Vulvar Non-Keratinizing Squamous Cell Carcinoma [NCIt concept]
- Vulvar Squamous Cell Carcinoma [NCIt concept]
- Vulvar Squamous Cell Carcinoma with Tumor Giant Cells [NCIt concept]
- Vulvar Squamous Cell Carcinoma, Not Otherwise Specified [NCIt concept]
- Vulvar Verrucous Carcinoma [NCIt concept]
- Vulvar Warty Carcinoma [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Negative Regulation of G1 Phase [NCIt concept]
- Protein Dephosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Tumor Suppression [NCIt concept]
genetic_biomarker_related_to
- 10q23/PTEN Locus Deletion Analysis Was Not Performed [NCIt concept]
- 10q23/PTEN Locus Deletion Analysis Was Performed [NCIt concept]
- 10q23/PTEN Locus Deletion Negative [NCIt concept]
- Cowden Syndrome [NCIt concept]
- Not Known if 10q23/PTEN Locus Deletion Analysis Was Performed [NCIt concept]
- Not Known if PTEN Mutation Analysis Was Performed [NCIt concept]
- PTEN Alteration Positive [NCIt concept]
- PTEN Coding Region Mutation Present [NCIt concept]
- PTEN Deficiency [NCIt concept]
- PTEN Gene Alteration Positive [NCIt concept]
- PTEN Gene Mutation Negative [NCIt concept]
- PTEN Gene [Presence] in Cancer Specimen by FISH [NCIt concept]
- PTEN Mutation Analysis [NCIt concept]
- PTEN Mutation Analysis Testing Method [NCIt concept]
- PTEN Mutation Analysis Was Not Performed [NCIt concept]
- PTEN Mutation Analysis Was Performed [NCIt concept]
- PTEN Negative [NCIt concept]
- PTEN Positive [NCIt concept]
- Phosphatase and Tensin Homolog Measurement [NCIt concept]
- Phosphatase and Tensin Homolog Staining Method [NCIt concept]
- Was 10q23/PTEN Locus Deletion Analysis Performed [NCIt concept]
- Was PTEN Mutation Analysis Performed [NCIt concept]
- Was a PTEN Mutation Identified [NCIt concept]
- del(10q23)/PTEN Gene Locus Deletion Analysis [NCIt concept]
- del(10q23)/PTEN Gene Locus Deletion Analysis Method [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients