FKTN, fukutin, 2218

N. diseases: 211; N. variants: 37
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746763506
rs746763506
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C2751052
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 		T 0.700 CausalMutation CLINVAR A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. 14627679 2003
dbSNP: rs746763506
rs746763506
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C2751052
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 		T 0.700 CausalMutation CLINVAR Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin. 11165248 2001
dbSNP: rs119463992
rs119463992
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C2751052
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1554754182
rs1554754182
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C2751052
Disease:
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 		T 0.700 GeneticVariation CLINVAR