Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150418
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 		0.710 GeneticVariation CLINVAR Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. 28980384

2017
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150418
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 		0.710 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150418
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 		0.710 CausalMutation 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
CUI: C3150418
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 		0.710 GeneticVariation CLINVAR Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. 24002165

2014
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150418
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 		0.710 CausalMutation CLINVAR Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. 24002165

2014
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150418
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 		0.710 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
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150418
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 		0.710 GeneticVariation CLINVAR New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. 17634419

2007
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150418
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 		0.710 CausalMutation 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
CUI: C3150418
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 		0.710 CausalMutation CLINVAR New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. 17634419

2007
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150418
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 		0.710 CausalMutation CLINVAR POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 15894594

2005
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150418
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 		0.710 GeneticVariation CLINVAR POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 15894594

2005
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		0.700 GeneticVariation CLINVAR Noncompaction cardiomyopathy in an infant with Walker-Warburg syndrome. 28980384

2017
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		0.700 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		0.700 CausalMutation 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
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		0.700 GeneticVariation CLINVAR Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. 24002165

2014
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		0.700 CausalMutation CLINVAR Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy. 24002165

2014
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		0.700 GeneticVariation CLINVAR Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 19299310

2009
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		0.700 GeneticVariation CLINVAR POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. 19138766

2009
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		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
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		0.700 GeneticVariation CLINVAR Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207

2007
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		0.700 CausalMutation CLINVAR New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. 17634419

2007
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		0.700 GeneticVariation CLINVAR New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation. 17634419

2007
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		0.700 CausalMutation 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
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		0.700 GeneticVariation CLINVAR POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 15894594

2005
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
CUI: C3150416
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 		0.700 CausalMutation CLINVAR POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. 15894594

2005