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GENE - TERM ANNOTATION REPORT

RGD ID: 732232
Species: Mus musculus
RGD Object: Gene
Symbol: Cntn1
Name: contactin 1
Acc ID: DOID:0080101
Term: Compton-North congenital myopathy
Definition: A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/19026398/ "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)
Cntn1 ISOCNTN1 (Homo sapiens)7240710OMIM  
Cntn1 ISOCNTN1 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Cntn1 ISOCNTN1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Compton-North congenital myopathyPMID:16199547 PMID:17576681 PMID:18414213 PMID:19026398 PMID:22242131 PMID:25741868 PMID:26467025 PMID:28492532 PMID:9536098
Cntn1 IAGP 13592920MouseDOOMIM:612540 
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