Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.750 CausalMutation disease CLINVAR Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 23394784 2013
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.750 Biomarker disease BEFREE Selenoprotein N-related myopathy (SEPN1-RM) is an early-onset muscle disorder that can manifest clinically as congenital muscular dystrophy with spinal rigidity and can result in specific pathological entities such as multiminicore disease, desmin-related myopathy with Mallory body-like inclusions, and congenital fiber-type disproportion. 20937510 2011
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.750 GeneticVariation disease BEFREE Congenital myopathy with fibre type disproportion (CFTD) has been associated with mutations in ACTA1, SEPN1, RYR1 and TPM3 genes. 20951040 2010
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.750 GeneticVariation disease BEFREE Mutations of the ACTA1 and SEPN1 genes have been identified in a small percentage of CFTD cases. 19953533 2010
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.750 CausalMutation disease CLINVAR The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. 17951086 2008
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.750 GeneticVariation disease BEFREE To date, mutation of ACTA1 and SEPN1 has been associated with CFTD, but the genetic basis in most patients is unclear. 18300303 2008
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.750 GeneticVariation disease UNIPROT CFTD is the fourth clinicopathological presentation that can be associated with mutations in SEPN1. 16365872 2006
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.750 Biomarker disease GENOMICS_ENGLAND CFTD is the fourth clinicopathological presentation that can be associated with mutations in SEPN1. 16365872 2006
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.750 GeneticVariation disease BEFREE CFTD is the fourth clinicopathological presentation that can be associated with mutations in SEPN1. 16365872 2006
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.750 CausalMutation disease CLINVAR CFTD is the fourth clinicopathological presentation that can be associated with mutations in SEPN1. 16365872 2006
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.750 CausalMutation disease CLINVAR Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale. 15668457 2005
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.750 CausalMutation disease CLINVAR Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. 12192640 2002
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.750 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.750 GeneticVariation disease CLINVAR
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.750 Biomarker disease CTD_human
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 27363342 2017
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. 26307083 2015
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 GeneticVariation disease CLINVAR Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres. 26307083 2015
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 GeneticVariation disease BEFREE Congenital fiber type disproportion with delayed fiber type maturation and the appearance of cap structures were analyzed in a child with p.Arg168Gly mutation in TPM3 gene. 23924754 2014
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 GeneticVariation disease UNIPROT Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096 2014
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy. 24507666 2014
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Congenital fiber type disproportion myopathy caused by LMNA mutations. 24642510 2014
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096 2014
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 GeneticVariation disease CLINVAR Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096 2014
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 Biomarker disease GENOMICS_ENGLAND Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies. 24692096 2014