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 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: 58
Gene Symbol: ACTA1
ACTA1 		0.740 CausalMutation disease CLINVAR
Entrez Id: 7170
Gene Symbol: TPM3
TPM3 		0.740 Biomarker disease CTD_human
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.740 Biomarker disease CTD_human
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.610 CausalMutation disease CLINVAR
Entrez Id: 7169
Gene Symbol: TPM2
TPM2 		0.610 Biomarker disease CTD_human
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.440 Biomarker disease CTD_human
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.440 GeneticVariation disease CLINVAR
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.440 CausalMutation disease CLINVAR
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		0.440 CausalMutation disease CLINVAR
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		0.440 GeneticVariation disease CLINVAR
Entrez Id: 64419
Gene Symbol: MTMR14
MTMR14 		0.300 Biomarker disease CTD_human
Entrez Id: 84876
Gene Symbol: ORAI1
ORAI1 		0.300 Biomarker disease CTD_human
Entrez Id: 6786
Gene Symbol: STIM1
STIM1 		0.300 Biomarker disease CTD_human
Entrez Id: 124093
Gene Symbol: CCDC78
CCDC78 		0.300 Biomarker disease CTD_human
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.200 Biomarker disease MGD
Entrez Id: 952
Gene Symbol: CD38
CD38 		0.010 GeneticVariation disease BEFREE Congenital myopathy with fiber type disproportion: a family with a chromosomal translocation t(10;17) may indicate candidate gene regions. 7908614 1994
Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7 		0.510 Biomarker disease MGD Absence of integrin alpha 7 causes a novel form of muscular dystrophy. 9354797 1997
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.740 Biomarker disease GENOMICS_ENGLAND Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. 10508519 1999
Entrez Id: 3643
Gene Symbol: INSR
INSR 		0.010 GeneticVariation disease BEFREE A third brother who inherited both normal alleles has an normal muscle phenotype and insulin sensitivity, suggesting a direct linkage of these IR mutations with the CFTDM phenotype. 10844410 1999
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: 7170
Gene Symbol: TPM3
TPM3 		0.740 CausalMutation disease CLINVAR De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathy. 12467750 2002
Entrez Id: 3679
Gene Symbol: ITGA7
ITGA7 		0.510 Biomarker disease MGD Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in mice. 12588796 2003