PTPN11 Gene - CISMeF

Preferred Label : PTPN11 Gene;

NCIt synonyms : Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene;

NCIt related terms : PTPN11;

CISMeF acronym : PTPN11;

NCIt definition : This gene plays a role in the regulation of cell signaling. It is involved in cell migration, metabolic control, mitogenic activation and gene transcription.;

Details

Origin ID

C26337;

UMLS CUI

C1335280;

Automatic exact mappings (from CISMeF team)
- PTPN11 gene [LOINC component]
- Protein-tyrosine phosphatase, nonreceptor-type, 11 [OMIM gene]
- protein tyrosine phosphatase non-receptor type 11 [ORDO Gene]
- protein tyrosine phosphatase, Non-Receptor type 11 [MeSH Descriptor]
HGNC gene
- protein tyrosine phosphatase non-receptor type 11 [HGNC gene]
OMIM relation
- Protein-tyrosine phosphatase, nonreceptor-type, 11 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PTPN11 gene [LOINC component]
- Protein-tyrosine phosphatase, nonreceptor-type, 11 [OMIM gene]
- protein tyrosine phosphatase non-receptor type 11 [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_associated_with_disease
- Juvenile Myelomonocytic Leukemia [NCIt concept]
gene_encodes_gene_product
- Tyrosine-Protein Phosphatase Non-Receptor Type 11 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_molecular_abnormality
- Activating PTPN11 Gene Mutation [NCIt concept]
- PTPN11 Gene Mutation [NCIt concept]
- PTPN11 NM_002834.4:c.1508G>C [NCIt concept]
- PTPN11 NP_002825.3:p.G503A [NCIt concept]
- PTPN11 Protein Variant [NCIt concept]
gene_mapped_to_disease
- Noonan Syndrome 1 [NCIt concept]
gene_plays_role_in_process
- Cell Adhesion Process [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Proliferation [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Cellular Migration Process [NCIt concept]
- Dephosphorylation [NCIt concept]
- Hematopoietic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Metabolic Control [NCIt concept]
- Protein Dephosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]
- Transcription [NCIt concept]
genetic_biomarker_related_to
- Noonan Syndrome [NCIt concept]
- Noonan Syndrome 1 [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients