Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7139
Gene Symbol: TNNT2
TNNT2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 5350
Gene Symbol: PLN
PLN
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 7137
Gene Symbol: TNNI3
TNNI3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.690 Biomarker GENOMICS_ENGLAND

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.600 Biomarker GENOMICS_ENGLAND A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. 10545598

1999

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.600 Biomarker GENOMICS_ENGLAND

Entrez Id: 6444
Gene Symbol: SGCD
SGCD
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.580 Biomarker GENOMICS_ENGLAND

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.500 Biomarker GENOMICS_ENGLAND Inotersen: new promise for the treatment of hereditary transthyretin amyloidosis. 31118583

2019

Entrez Id: 7276
Gene Symbol: TTR
TTR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.500 Biomarker GENOMICS_ENGLAND Inotersen: First Global Approval. 30120737

2018

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.500 Biomarker GENOMICS_ENGLAND One candidate gene in the region, MYH7, which is mutated in cardiomyopathy and myosin storage myopathy, codes for the myosin heavy chain of type I skeletal muscle fibers and cardiac ventricles. 15322983

2004

Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 6901
Gene Symbol: TAZ
TAZ
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 2010
Gene Symbol: EMD
EMD
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 7273
Gene Symbol: TTN
TTN
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.500 Biomarker GENOMICS_ENGLAND

Entrez Id: 7414
Gene Symbol: VCL
VCL
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.480 Biomarker GENOMICS_ENGLAND

Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.470 Biomarker GENOMICS_ENGLAND

Entrez Id: 1829
Gene Symbol: DSG2
DSG2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.460 Biomarker GENOMICS_ENGLAND

Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.460 Biomarker GENOMICS_ENGLAND

Entrez Id: 1824
Gene Symbol: DSC2
DSC2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.450 Biomarker GENOMICS_ENGLAND