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GENE - TERM ANNOTATION REPORT

RGD ID: 2035
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Adcy6
Name: adenylate cyclase 6
Acc ID: DOID:9002593
Term: Lethal Congenital Contracture Syndrome 8
Definition: An axoglial form of arthrogryposis multiplex congenita, that is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. (OMIM)
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)
Adcy6 ISOADCY6 (Homo sapiens)7240710OMIM  
Adcy6 ISOADCY6 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Adcy6 ISOADCY6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Lethal congenital contracture syndrome 8PMID:23806086 PMID:24088041 PMID:24319099 PMID:25741868 PMID:26257172 PMID:31846058
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