×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
CausalMutation
disease
CLINVAR
A Successful Treatment of Endoscopic Third Ventriculostomy with Choroid Plexus Cauterization for Hydrocephalus in Walker-Warburg Syndrome.
28116189
2016
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
Biomarker
disease
GENOMICS_ENGLAND
Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review.
27421908
2016
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
CausalMutation
disease
CLINVAR
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
24491487
2014
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
GeneticVariation
disease
CLINVAR
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
24491487
2014
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
CausalMutation
disease
CLINVAR
Detection limit of intragenic deletions with targeted array comparative genomic hybridization.
24304607
2013
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
CausalMutation
disease
CLINVAR
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
22323514
2012
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
GeneticVariation
disease
CLINVAR
Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.
22549409
2012
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
GeneticVariation
disease
CLINVAR
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
20816175
2010
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
GeneticVariation
disease
CLINVAR
Protein O-mannosyltransferase activities in lymphoblasts from patients with alpha-dystroglycanopathies.
17869517
2008
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
CausalMutation
disease
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
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
GeneticVariation
disease
CLINVAR
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
17878207
2007
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
CausalMutation
disease
CLINVAR
Molecular heterogeneity in fetal forms of type II lissencephaly.
17559086
2007
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
GeneticVariation
disease
CLINVAR
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
16575835
2006
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
CausalMutation
disease
CLINVAR
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
16575835
2006
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
GeneticVariation
disease
BEFREE
Mutations in POMT1 have been identified in Walker-Warburg syndrome and in patients with limb-girdle muscular dystrophy and mental retardation (LGMD2K ).
16717220
2006
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
GeneticVariation
disease
CLINVAR
Expanding the clinical spectrum of POMT1 phenotype.
16717220
2006
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
CausalMutation
disease
CLINVAR
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
15637732
2005
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
GeneticVariation
disease
UNIPROT
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.
15792865
2005
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
GeneticVariation
disease
CLINVAR
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
15637732
2005
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
Biomarker
disease
GENOMICS_ENGLAND
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycan.
14678799
2003
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
GeneticVariation
disease
CLINVAR
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
12369018
2002
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
CausalMutation
disease
CLINVAR
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
12369018
2002
×
Entrez Id:
10585
Gene Symbol:
POMT1
POMT1
0.710
Biomarker
disease
CTD_human
×
Entrez Id:
729920
Gene Symbol:
CRPPA
CRPPA
0.300
Biomarker
disease
CTD_human
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome.
22522420
2012