Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27063
Gene Symbol: ANKRD1
ANKRD1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.320 Biomarker GENOMICS_ENGLAND

Entrez Id: 88
Gene Symbol: ACTN2
ACTN2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 845
Gene Symbol: CASQ2
CASQ2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 55679
Gene Symbol: LIMS2
LIMS2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.310 Biomarker GENOMICS_ENGLAND LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues. 25589244

2015

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 6016
Gene Symbol: RIT1
RIT1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.310 Biomarker GENOMICS_ENGLAND

Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 3910
Gene Symbol: LAMA4
LAMA4
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 3265
Gene Symbol: HRAS
HRAS
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 57798
Gene Symbol: GATAD1
GATAD1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 1837
Gene Symbol: DTNA
DTNA
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 5605
Gene Symbol: MAP2K2
MAP2K2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 65055
Gene Symbol: REEP1
REEP1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.300 Biomarker GENOMICS_ENGLAND Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. 22703882

2012

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 10529
Gene Symbol: NEBL
NEBL
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 51778
Gene Symbol: MYOZ2
MYOZ2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 93649
Gene Symbol: MYOCD
MYOCD
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.300 Biomarker GENOMICS_ENGLAND Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. 31513549

2019

Entrez Id: 27295
Gene Symbol: PDLIM3
PDLIM3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 93649
Gene Symbol: MYOCD
MYOCD
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.300 Biomarker GENOMICS_ENGLAND Loss-of-function variants in myocardin cause congenital megabladder in humans and mice. 31513549

2019