Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C2751052
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 		0.900 GeneticVariation UNIPROT Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310

2009
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C2751052
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 		0.900 GeneticVariation UNIPROT Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. 19179078

2009
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C2751052
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 		0.900 GeneticVariation UNIPROT 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: C2751052
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 		0.900 GeneticVariation UNIPROT A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. 14627679

2003