Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7168
Gene Symbol: TPM1
TPM1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.450 Biomarker GENOMICS_ENGLAND

Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.440 Biomarker GENOMICS_ENGLAND

Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.440 Biomarker GENOMICS_ENGLAND

Entrez Id: 282996
Gene Symbol: RBM20
RBM20
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.440 Biomarker GENOMICS_ENGLAND

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.440 Biomarker GENOMICS_ENGLAND

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.440 Biomarker GENOMICS_ENGLAND

Entrez Id: 84665
Gene Symbol: MYPN
MYPN
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.430 Biomarker GENOMICS_ENGLAND

Entrez Id: 91624
Gene Symbol: NEXN
NEXN
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.430 Biomarker GENOMICS_ENGLAND

Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.420 Biomarker GENOMICS_ENGLAND

Entrez Id: 79188
Gene Symbol: TMEM43
TMEM43
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.420 Biomarker GENOMICS_ENGLAND

Entrez Id: 5428
Gene Symbol: POLG
POLG
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.420 Biomarker GENOMICS_ENGLAND

Entrez Id: 11155
Gene Symbol: LDB3
LDB3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.410 Biomarker GENOMICS_ENGLAND

Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.410 Biomarker GENOMICS_ENGLAND

Entrez Id: 57158
Gene Symbol: JPH2
JPH2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.410 Biomarker GENOMICS_ENGLAND

Entrez Id: 3728
Gene Symbol: JUP
JUP
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.410 Biomarker GENOMICS_ENGLAND

Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.400 Biomarker GENOMICS_ENGLAND

Entrez Id: 4624
Gene Symbol: MYH6
MYH6
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.380 Biomarker GENOMICS_ENGLAND

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.380 Biomarker GENOMICS_ENGLAND

Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.360 Biomarker GENOMICS_ENGLAND Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. 24627108

2014

Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.350 Biomarker GENOMICS_ENGLAND Dilated Cardiomyopathy With Short QT Interval Suggests Primary Carnitine Deficiency. 29198778

2018

Entrez Id: 859
Gene Symbol: CAV3
CAV3
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.350 Biomarker GENOMICS_ENGLAND

Entrez Id: 7134
Gene Symbol: TNNC1
TNNC1
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.350 Biomarker GENOMICS_ENGLAND

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.330 Biomarker GENOMICS_ENGLAND Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. 26337637

2016

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.330 Biomarker GENOMICS_ENGLAND PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain. 25884655

2015

Entrez Id: 2218
Gene Symbol: FKTN
FKTN
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.320 Biomarker GENOMICS_ENGLAND