rs121908110, FKRP

N. diseases: 4
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MUSCULAR DYSTROPHY, CONGENITAL, 1C
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
0.700 GeneticVariation UNIPROT A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. 17336067 2007
MUSCULAR DYSTROPHY, CONGENITAL, 1C
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
0.700 GeneticVariation UNIPROT New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. 14652796 2004
MUSCULAR DYSTROPHY, CONGENITAL, 1C
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
0.700 GeneticVariation UNIPROT FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts. 12654965 2003
MUSCULAR DYSTROPHY, CONGENITAL, 1C
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
0.700 GeneticVariation UNIPROT Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 12666124 2003
MUSCULAR DYSTROPHY, CONGENITAL, 1C
CUI: C1847759
Disease: MUSCULAR DYSTROPHY, CONGENITAL, 1C
0.700 GeneticVariation UNIPROT Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. 11592034 2001