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GENE - TERM ANNOTATION REPORT

RGD ID: 14136045
Species: Sus scrofa
RGD Object: Gene
Symbol: RNF170
Name: ring finger protein 170
Acc ID: DOID:0111235
Term: congenital muscular dystrophy-dystroglycanopathy type A12
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/23519211 "DO" "DO"
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)
RNF170 ISORNF170 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12PMID:28492532
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