×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.710
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
0.710
Biomarker
disease
GENOMICS_ENGLAND
Molecular heterogeneity in fetal forms of type II lissencephaly.
17559086
2007
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.710
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
0.710
GeneticVariation
disease
CLINVAR
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
17634419
2007
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.710
GeneticVariation
disease
BEFREE
Mutations in POMT2 are most commonly associated with Walker-Warburg syndrome and Muscle-Eye-Brain disease, but can also cause limb girdle muscular dystrophy (LGMD2N ).
29759639
2018
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.710
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
0.710
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
0.710
CausalMutation
disease
CLINVAR
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
15894594
2005
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
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:
29954
Gene Symbol:
POMT2
POMT2
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:
29954
Gene Symbol:
POMT2
POMT2
0.710
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
0.710
GeneticVariation
disease
UNIPROT
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan.
17878207
2007
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.710
Biomarker
disease
GENOMICS_ENGLAND
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
15894594
2005
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.710
GeneticVariation
disease
CLINVAR
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
27854218
2016
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.710
Biomarker
disease
CTD_human
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.710
GeneticVariation
disease
CLINVAR
Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome.
28980384
2017
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.710
CausalMutation
disease
CLINVAR
New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation.
17634419
2007
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.710
GeneticVariation
disease
CLINVAR
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
15894594
2005
×
Entrez Id:
29954
Gene Symbol:
POMT2
POMT2
0.710
GeneticVariation
disease
UNIPROT
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
17923109
2007