Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		1.000 Biomarker GENOMICS_ENGLAND Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review. 27421908

2016
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		1.000 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		1.000 Biomarker GENOMICS_ENGLAND Rhabdomyolysis: a genetic perspective. 25929793

2015
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		1.000 Biomarker GENOMICS_ENGLAND We describe four new patients with FKTN mutations and phenotypes ranging from: severe WWS in a Greek-Croatian patient, to congenital muscular dystrophy and cobblestone lissencephaly resembling MEB-FCMD in two Turkish patients, and limb-girdle muscular dystrophy and no mental retardation in a German patient. 20961758

2011
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		1.000 Biomarker GENOMICS_ENGLAND Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. 18177472

2008
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		1.000 Biomarker GENOMICS_ENGLAND Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207

2007
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		1.000 Biomarker GENOMICS_ENGLAND A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. 14627679

2003
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		1.000 Biomarker GENOMICS_ENGLAND Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). 10545611

1999
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		1.000 Biomarker GENOMICS_ENGLAND An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. 9690476

1998