Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119462982
rs119462982
POMT1
0.800 GeneticVariation UNIPROT

dbSNP: rs119462982
rs119462982
POMT1
C 0.800 CausalMutation CLINVAR

dbSNP: rs200056620
rs200056620
POMT1
T 0.700 CausalMutation CLINVAR A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome. 28116189

2016
dbSNP: rs149682171
rs149682171
POMT1
T 0.700 GeneticVariation 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 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: rs119462987
rs119462987
POMT1
A 0.700 GeneticVariation CLINVAR Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. 22549409

2012
dbSNP: rs398124245
rs398124245
POMT1
CG 0.700 CausalMutation CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514

2012
dbSNP: rs766648827
rs766648827
POMT1
C 0.700 CausalMutation CLINVAR Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. 22323514

2012
dbSNP: rs119462987
rs119462987
POMT1
A 0.700 GeneticVariation CLINVAR POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies. 20816175

2010
dbSNP: rs119462987
rs119462987
POMT1
A 0.700 GeneticVariation CLINVAR Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies. 17869517

2008
dbSNP: rs1564364615
rs1564364615
POMT1
C 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
dbSNP: rs119462987
rs119462987
POMT1
A 0.700 GeneticVariation CLINVAR Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207

2007
dbSNP: rs1564364615
rs1564364615
POMT1
C 0.700 CausalMutation CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086

2007
dbSNP: rs398124245
rs398124245
POMT1
CG 0.700 CausalMutation CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086

2007
dbSNP: rs766648827
rs766648827
POMT1
C 0.700 CausalMutation CLINVAR Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086

2007
dbSNP: rs119462987
rs119462987
POMT1
A 0.700 GeneticVariation CLINVAR Expanding the clinical spectrum of POMT1 phenotype. 16717220

2006
dbSNP: rs1453773610
rs1453773610
POMT1
C 0.700 GeneticVariation CLINVAR The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. 16575835

2006
dbSNP: rs1564365317
rs1564365317
POMT1
C 0.700 GeneticVariation 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 The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. 16575835

2006
dbSNP: rs766648827
rs766648827
POMT1
C 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: rs1453773610
rs1453773610
POMT1
C 0.700 GeneticVariation CLINVAR Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. 15637732

2005
dbSNP: rs1564365317
rs1564365317
POMT1
C 0.700 GeneticVariation CLINVAR Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. 15637732

2005
dbSNP: rs766648827
rs766648827
POMT1
C 0.700 CausalMutation CLINVAR Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. 15637732

2005
dbSNP: rs1453773610
rs1453773610
POMT1
C 0.700 GeneticVariation CLINVAR Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. 12369018

2002