Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124245
rs398124245
POMT1
CG 0.700 CausalMutation CLINVAR A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. 24491487

2014
dbSNP: rs398124245
rs398124245
POMT1
CG 0.700 CausalMutation CLINVAR Detection limit of intragenic deletions with targeted array comparative genomic hybridization. 24304607

2013
dbSNP: rs398124245
rs398124245
POMT1
CG 0.700 CausalMutation CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514

2012
dbSNP: rs398124245
rs398124245
POMT1
CG 0.700 CausalMutation CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086

2007
dbSNP: rs398124245
rs398124245
POMT1
CG 0.700 CausalMutation CLINVAR The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. 16575835

2006
dbSNP: rs398124245
rs398124245
POMT1
CG 0.700 CausalMutation CLINVAR Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. 12369018

2002