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GENE - TERM ANNOTATION REPORT

RGD ID: 11910191
Species: Pan paniscus
RGD Object: Gene
Symbol: FKTN
Name: fukutin
Acc ID: DOID:0110296
Term: autosomal recessive limb-girdle muscular dystrophy type 2M
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/17044012 "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)7240710OMIM  
FKTN ISOFKTN (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2M | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4PMID:10545611 PMID:11165248 PMID:14627679 PMID:17034757 PMID:17044012 PMID:17597323 PMID:17878207 PMID:18177472 PMID:18752264 PMID:19015585 PMID:19179078 PMID:19266496 PMID:19299310 PMID:19342235 PMID:19396839 PMID:20620061 PMID:20961758 PMID:21520333 PMID:22275357 PMID:22958903 PMID:23582336 PMID:23757202 PMID:24033266 PMID:24144914 PMID:25741868 PMID:25821721 PMID:26350204 PMID:26467025 PMID:26809617 PMID:26923585 PMID:27065010 PMID:27124789 PMID:28492532 PMID:28680109 PMID:28688748 PMID:28759667 PMID:29447731 PMID:29590070 PMID:30060766 PMID:30975432 PMID:31983221 PMID:35131284
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