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GENE - TERM ANNOTATION REPORT

RGD ID: 14054063
Species: Sus scrofa
RGD Object: Gene
Symbol: MET
Name: MET proto-oncogene, receptor tyrosine kinase
Acc ID: DOID:9002242
Term: Distal Arthrogryposis Type 11
Definition: An autosomal dominant disorder characterized mainly by camptodactyly. Caused by heterozygous mutation in the MET gene on chromosome 7q31.
Definition Source(s): OMIM:620019
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
MET ISOMET (Homo sapiens)7240710OMIM  
MET ISOMET (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arthrogryposis, distal, type 11PMID:25741868 PMID:28492532 PMID:30777867
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