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GENE - TERM ANNOTATION REPORT

RGD ID: 1320791
Species: Homo sapiens
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 IAGP 7240710OMIM  
FKTN EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2MPMID:11165248 PMID:14627679 PMID:17044012 PMID:17878207 PMID:18752264 PMID:20961758 PMID:25741868 PMID:26809617 PMID:28492532
FKTN IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (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-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4PMID:25741868 PMID:28492532
FKTN IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (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 2MPMID:25741868
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4PMID:17044012 PMID:17878207 PMID:18752264 PMID:25741868 PMID:28492532
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4PMID:21520333 PMID:25741868 PMID:28492532
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4PMID:25741868 PMID:28492532 PMID:31983221
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2MPMID:20620061 PMID:25741868 PMID:28492532 PMID:28680109 PMID:35131284
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4PMID:25741868 PMID:28492532 PMID:30975432
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4PMID:25741868 PMID:26467025 PMID:28492532
FKTN IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2MPMID:10545611 PMID:17044012 PMID:17878207 PMID:18177472 PMID:18752264 PMID:19266496 PMID:23757202 PMID:24144914 PMID:25741868 PMID:27065010 PMID:28492532
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2MPMID:17044012
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2MPMID:19342235 PMID:25741868
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4PMID:17044012 PMID:17878207 PMID:19179078 PMID:19299310 PMID:19396839 PMID:20961758 PMID:25741868 PMID:25821721 PMID:26923585 PMID:28492532 PMID:30060766
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4PMID:17878207 PMID:19342235 PMID:22275357 PMID:28492532
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4PMID:17044012 PMID:17597323 PMID:17878207 PMID:18752264 PMID:25741868 PMID:28492532 PMID:30060766
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2MPMID:19015585 PMID:23582336 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4PMID:17044012 PMID:17878207 PMID:18752264 PMID:22958903 PMID:23757202 PMID:25741868 PMID:28492532 PMID:28759667
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4PMID:17044012 PMID:17878207 PMID:18752264 PMID:25741868 PMID:26467025 PMID:27124789 PMID:28492532 PMID:28688748
FKTN IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4PMID:25741868 PMID:26350204 PMID:26467025 PMID:28492532 PMID:29590070
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