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

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: 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: 4625
Gene Symbol: MYH7
MYH7
CUI: C0026848
Disease: Myopathy
Myopathy
0.200 GeneticVariation 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: 1293
Gene Symbol: COL6A3
COL6A3
CUI: C0026848
Disease: Myopathy
Myopathy
0.140 GeneticVariation CLINVAR

Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0026848
Disease: Myopathy
Myopathy
0.130 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362

2018

Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0026848
Disease: Myopathy
Myopathy
0.130 GeneticVariation CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893

2017

Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
CUI: C0026848
Disease: Myopathy
Myopathy
0.130 GeneticVariation CLINVAR Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. 26976520

2016

Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C0026848
Disease: Myopathy
Myopathy
0.120 GeneticVariation CLINVAR

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0026848
Disease: Myopathy
Myopathy
0.110 GeneticVariation CLINVAR

Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 GeneticVariation CLINVAR

Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 GeneticVariation CLINVAR

Entrez Id: 6440
Gene Symbol: SFTPC
SFTPC
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 GeneticVariation CLINVAR

Entrez Id: 54344
Gene Symbol: DPM3
DPM3
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 GeneticVariation CLINVAR

Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 GeneticVariation CLINVAR

Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1
CUI: C0026848
Disease: Myopathy
Myopathy
0.100 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