Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0026848
Disease: Myopathy
Myopathy
0.500 GeneticVariation CLINVAR

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0026848
Disease: Myopathy
Myopathy
0.500 CausalMutation CLINVAR

Entrez Id: 79912
Gene Symbol: PYROXD1
PYROXD1
CUI: C0026848
Disease: Myopathy
Myopathy
0.410 CausalMutation CLINVAR

Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C0026848
Disease: Myopathy
Myopathy
0.400 GeneticVariation CLINVAR

Entrez Id: 4534
Gene Symbol: MTM1
MTM1
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016

Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation CLINVAR

Entrez Id: 57190
Gene Symbol: SELENON
SELENON
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation CLINVAR

Entrez Id: 203859
Gene Symbol: ANO5
ANO5
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 CausalMutation CLINVAR

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation CLINVAR

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation CLINVAR

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 CausalMutation CLINVAR

Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 CausalMutation CLINVAR

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation CLINVAR

Entrez Id: 10020
Gene Symbol: GNE
GNE
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 CausalMutation CLINVAR

Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 CausalMutation CLINVAR

Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 CausalMutation CLINVAR

Entrez Id: 4620
Gene Symbol: MYH2
MYH2
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 CausalMutation CLINVAR

Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0026848
Disease: Myopathy
Myopathy
0.180 GeneticVariation CLINVAR

Entrez Id: 1292
Gene Symbol: COL6A2
COL6A2
CUI: C0026848
Disease: Myopathy
Myopathy
0.160 GeneticVariation CLINVAR

Entrez Id: 7170
Gene Symbol: TPM3
TPM3
CUI: C0026848
Disease: Myopathy
Myopathy
0.150 GeneticVariation CLINVAR

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C0026848
Disease: Myopathy
Myopathy
0.150 GeneticVariation CLINVAR

Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0026848
Disease: Myopathy
Myopathy
0.150 CausalMutation CLINVAR

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C0026848
Disease: Myopathy
Myopathy
0.150 CausalMutation CLINVAR

Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026848
Disease: Myopathy
Myopathy
0.140 CausalMutation CLINVAR

Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
CUI: C0026848
Disease: Myopathy
Myopathy
0.140 CausalMutation CLINVAR