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GENE - TERM ANNOTATION REPORT

RGD ID: 1320792
Species: Mus musculus
RGD Object: Gene
Symbol: Fktn
Name: fukutin
Acc ID: DOID:0111237
Term: congenital muscular dystrophy-dystroglycanopathy type A1
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/12369018 "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)
Fktn ISOFKTN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Hydrocephalus, agyria and retinal dysplasia | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1PMID:10545611 PMID:11165248 PMID:14627679 PMID:17044012 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18752264 PMID:19015585 PMID:19266496 PMID:19342235 PMID:20620061 PMID:20961758 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:26350204 PMID:26467025 PMID:26809617 PMID:27065010 PMID:27124789 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:29590070 PMID:30060766 PMID:30975432 PMID:31983221 PMID:35131284
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