Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.500 GeneticVariation disease LHGDN A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study. 17376686 2007
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1 		0.500 GeneticVariation disease LHGDN A nonsense mutation at codon Glu180 in exon 11 of slow skeletal muscle troponin T (TnT) gene (TNNT1) causes an autosomal-recessive inherited nemaline myopathy. 15665378 2005
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 GeneticVariation disease LHGDN We have previously described 18 different mutations in the last 42 exons of the nebulin gene (NEB) in 18 families with NM. 16917880 2006
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 GeneticVariation disease LHGDN Here we describe the identification of mutations in the nebulin gene in seven offspring of five families affected by the severe congenital form of nemaline myopathy. 12207937 2002
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.500 GeneticVariation disease LHGDN This is the first mutation identified in a constitutively expressed exon of TPM3 in a nemaline myopathy patient, but is similar to recently described mutations in beta-tropomyosin (TPM2) associated with nemaline myopathy and mutations in fast alpha-tropomyosin (TPM1) which cause hypertrophic cardiomyopathy. 12467750 2002
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.500 GeneticVariation disease LHGDN TPM3 mutations are a rare cause of NM, probably accounting for less than 3% of cases. 12196661 2002
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.400 GeneticVariation disease LHGDN The described two mutations add to the previously reported mutations in ACTA1 associated with nemaline myopathy. 15336687 2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.400 GeneticVariation disease LHGDN We have screened the ACTA1 gene in a cohort of 109 unrelated patients with NM. 15236405 2004
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.400 GeneticVariation disease LHGDN Here we report for the first time three patients with severe nemaline myopathy and mutations of the ACTA1 stop codon: TAG>TAT (tyrosine), TAG>CAG (glutamine) and TAG>TGG (tryptophan). 16945536 2006
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.400 GeneticVariation disease LHGDN Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H). 18461503 2007
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.400 GeneticVariation disease LHGDN The results indicate that mutations in TPM2 may cause nemaline myopathy as well as cap disease with a dominant mode of inheritance. 17846275 2007
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.400 GeneticVariation disease LHGDN Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. 16427282 2006
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.050 GeneticVariation disease LHGDN Novel RYR1 missense mutation causes core rod myopathy. 18312400 2008
Entrez Id: 70
Gene Symbol: ACTC1
ACTC1 		0.020 GeneticVariation disease LHGDN Functional effects of nemaline myopathy mutations on human skeletal alpha-actin. 18477565 2008
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.500 CausalMutation disease CLINVAR
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 CausalMutation disease CLINVAR Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 15336686 2004
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 CausalMutation disease CLINVAR Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. 25110572 2014
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 CausalMutation disease CLINVAR Distal myopathy caused by homozygous missense mutations in the nebulin gene. 17525139 2007
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 CausalMutation disease CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 GeneticVariation disease CLINVAR Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. 15336686 2004
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 GeneticVariation disease CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 CausalMutation disease CLINVAR Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene. 24056153 2015
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1 		0.500 CausalMutation disease CLINVAR
Entrez Id: 4703
Gene Symbol: NEB
NEB 		0.500 CausalMutation disease CLINVAR Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 25356970 2015