Terminology Service for NFDI4Health
PTPN11 Gene Mutation
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http://purl.obolibrary.org/obo/NCIT_C82612
Mutation of the protein tyrosine phosphatase, non-receptor type 11 gene. It is seen in cases of juvenile myelomonocytic leukemia. [ ]
Term info
Label
PTPN11 Gene Mutation
Synonyms
- BPTP3 Gene Mutation
- PTP-1D Gene Mutation
- PTP2C Gene Mutation
- PTPN11
- PTPN11 Gene Mutation
- Protein Tyrosine Phosphatase, Non-Receptor Type 11 Gene Mutation
- SH-PTP2 Gene Mutation
- SHP-2 Gene Mutation
- SHP2 Gene Mutation
Subsets
NCIT_C156953, NCIT_C156952, NCIT_C116977, NCIT_C159339, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP, CPTAC
Display Name
PTPN11 Gene Mutation
Legacy Concept Name
PTPN11_Gene_Mutation
Preferred Name
PTPN11 Gene Mutation
Semantic Type
Cell or Molecular Dysfunction
UMLS CUI
C2826327
code
C82612