rs1564364615, POMT1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
0.700 CausalMutation CLINVAR Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. 18752264 2008
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
0.700 CausalMutation CLINVAR Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. 18752264 2008
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
0.700 CausalMutation CLINVAR Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. 18752264 2008
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
CUI: C3150415
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
0.700 CausalMutation CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086 2007
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
0.700 CausalMutation CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086 2007
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
0.700 CausalMutation CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086 2007