PTPN11 Gene Mutation

Preferred Label : PTPN11 Gene Mutation;

NCIt synonyms : BPTP3 Gene Mutation; Protein Tyrosine Phosphatase, Non-Receptor Type 11 Gene Mutation; PTP2C Gene Mutation; SHP2 Gene Mutation; SHP-2 Gene Mutation; PTP-1D Gene Mutation; SH-PTP2 Gene Mutation; Protein Tyrosine Phosphatase Non-Receptor Type 11 Gene Mutation;

NCIt related terms : PTPN11 Mutation; PTPN11;

NCIt definition : Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia.;

Details

Origin ID

C82612;

UMLS CUI

C2826327;

Automatic exact mappings (from CISMeF team)
- PTPN11 gene mutation [MedDRA Preferred Term]
- Protein-tyrosine phosphatase, nonreceptor-type, 11 [OMIM gene]
- protein tyrosine phosphatase non-receptor type 11 [ORDO Gene]
Molecular abnormality of diseases
- Juvenile Myelomonocytic Leukemia [NCIt concept]
- Juvenile Myelomonocytic Leukemia Associated with Neurofibromatosis [NCIt concept]
- Juvenile Myelomonocytic Leukemia Associated with Noonan Syndrome-Like Disorder [NCIt concept]
- Noonan Syndrome-Associated Myeloproliferative Disorder [NCIt concept]
- Recurrent Juvenile Myelomonocytic Leukemia [NCIt concept]
- Refractory Juvenile Myelomonocytic Leukemia [NCIt concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- PTPN11 gene mutation [MedDRA Preferred Term]
concept_is_in_subset
- AML Authorized Value Terminology [NCIt concept]
- AML Minimal Residual Disease Table [NCIt concept]
- AML Molecular Analysis Table [NCIt concept]
- CPTAC Acute Myeloid Leukemia Baseline Form [NCIt concept]
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
molecular_abnormality_involves_gene
- PTPN11 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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