Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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
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 Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
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 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 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 Exome sequencing can improve diagnosis and alter patient management. 22700954 2012
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 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 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 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 Molecular heterogeneity in fetal forms of type II lissencephaly. 17559086 2007
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 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 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 POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 15894594 2005
Entrez Id: 29954
Gene Symbol: POMT2
POMT2 		0.600 CausalMutation disease CLINVAR POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 15894594 2005