×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
CausalMutation
disease
CLINVAR
IL-20 is an arteriogenic cytokine that remodels collateral networks and improves functions of ischemic hind limbs.
17878297
2007
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
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:
29954
Gene Symbol:
POMT2
POMT2
0.600
Biomarker
disease
GENOMICS_ENGLAND
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
17878207
2007
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
CausalMutation
disease
CLINVAR
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
17634419
2007
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
GeneticVariation
disease
UNIPROT
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
17878207
2007
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
Biomarker
disease
GENOMICS_ENGLAND
Exome sequencing can improve diagnosis and alter patient management.
22700954
2012
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
Biomarker
disease
GENOMICS_ENGLAND
Molecular heterogeneity in fetal forms of type II lissencephaly.
17559086
2007
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
GeneticVariation
disease
UNIPROT
POMT2 mutation in a patient with 'MEB-like' phenotype.
16701995
2006
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
GeneticVariation
disease
UNIPROT
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
15894594
2005
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
GeneticVariation
disease
CLINVAR
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
17634419
2007
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
CausalMutation
disease
CLINVAR
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus.
26495167
2015
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
Biomarker
disease
GENOMICS_ENGLAND
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
15894594
2005
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
GeneticVariation
disease
CLINVAR
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.
24002165
2014
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
GeneticVariation
disease
CLINVAR
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.
28980384
2017
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
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:
29954
Gene Symbol:
POMT2
POMT2
0.600
GeneticVariation
disease
CLINVAR
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
15894594
2005
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
GeneticVariation
disease
UNIPROT
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
22958903
2012
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
GeneticVariation
disease
UNIPROT
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
19138766
2009
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
CausalMutation
disease
CLINVAR
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
15894594
2005
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
CausalMutation
disease
CLINVAR
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.
24002165
2014
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.600
Biomarker
disease
GENOMICS_ENGLAND
Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature.
28815891
2017