Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
1.000 Biomarker GENOMICS_ENGLAND

Entrez Id: 7112
Gene Symbol: TMPO
TMPO
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.520 Biomarker GENOMICS_ENGLAND

Entrez Id: 70
Gene Symbol: ACTC1
ACTC1
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.370 Biomarker CTD_human

Entrez Id: 6389
Gene Symbol: SDHA
SDHA
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.310 Biomarker CTD_human

Entrez Id: 57104
Gene Symbol: PNPLA2
PNPLA2
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 84444
Gene Symbol: DOT1L
DOT1L
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.210 Biomarker MGD

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.200 GeneticVariation CLINVAR

Entrez Id: 9464
Gene Symbol: HAND2
HAND2
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.110 CausalMutation CLINVAR

Entrez Id: 79804
Gene Symbol: HAND2-AS1
HAND2-AS1
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.100 CausalMutation CLINVAR

Entrez Id: 27253
Gene Symbol: PCDH17
PCDH17
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 AlteredExpression BEFREE <b>Conclusion</b>: Our study suggests that DCRF can act as a competing endogenous RNA to increase PCDH17 expression by sponging miR-551b-5p, thus contributing to increased cardiomyocyte autophagy in DCM. 31285779

2019

Entrez Id: 693136
Gene Symbol: MIR551B
MIR551B
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 AlteredExpression BEFREE <b>Conclusion</b>: Our study suggests that DCRF can act as a competing endogenous RNA to increase PCDH17 expression by sponging miR-551b-5p, thus contributing to increased cardiomyocyte autophagy in DCM. 31285779

2019

Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.080 Biomarker BEFREE <b>Conclusion:</b> Carvacrol protected against DCM in mice with T1DM and T2DM by restoring PI3K/AKT signaling-mediated GLUT4 membrane translocation and is a potential treatment of DCM. 31572181

2019

Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.050 Biomarker BEFREE <b>Conclusion:</b> Carvacrol protected against DCM in mice with T1DM and T2DM by restoring PI3K/AKT signaling-mediated GLUT4 membrane translocation and is a potential treatment of DCM. 31572181

2019

Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.050 Biomarker BEFREE <b>Conclusion:</b> Carvacrol protected against DCM in mice with T1DM and T2DM by restoring PI3K/AKT signaling-mediated GLUT4 membrane translocation and is a potential treatment of DCM. 31572181

2019

Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.050 Biomarker BEFREE <b>Conclusion:</b> Carvacrol protected against DCM in mice with T1DM and T2DM by restoring PI3K/AKT signaling-mediated GLUT4 membrane translocation and is a potential treatment of DCM. 31572181

2019

Entrez Id: 6517
Gene Symbol: SLC2A4
SLC2A4
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.030 Biomarker BEFREE <b>Conclusion:</b> Carvacrol protected against DCM in mice with T1DM and T2DM by restoring PI3K/AKT signaling-mediated GLUT4 membrane translocation and is a potential treatment of DCM. 31572181

2019

Entrez Id: 1909
Gene Symbol: EDNRA
EDNRA
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.030 Biomarker BEFREE 125I-labeled ET-1 radioligand binding studies demonstrated a significant downregulation of ETB receptors, whereas ETA-receptor density was increased in membranes from DCM hearts. 10217651

1999

Entrez Id: 1991
Gene Symbol: ELANE
ELANE
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 Biomarker BEFREE 4-HNE and autophagic markers were detected by Western blotting in ventricular tissues from normal donors and patients with idiopathic dilated cardiomyopathy. 24434637

2014

Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 GeneticVariation BEFREE 57% IDCs (16 LG-IDCs, 1 HG-IDC) showed RET rearrangements, including NCOA4-RET (8 intercalated, 2 unclassifiable IDCs) and TRIM27-RET fusions (2 mixed IDCs). 31697865

2019

Entrez Id: 5987
Gene Symbol: TRIM27
TRIM27
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 GeneticVariation BEFREE 57% IDCs (16 LG-IDCs, 1 HG-IDC) showed RET rearrangements, including NCOA4-RET (8 intercalated, 2 unclassifiable IDCs) and TRIM27-RET fusions (2 mixed IDCs). 31697865

2019

Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.200 GeneticVariation BEFREE 87 patients with HCM and 71 patients with DCM were screened for MYBPC3 mutations by denaturing gradient gel electrophoresis and sequencing. 18957093

2008

Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.030 GeneticVariation BEFREE 89 unrelated patients aged 47.9±13.5 years (80% male) transplanted for end-stage DCM underwent genetic screening of five desmosomal genes (PKP2, DSP, DSC2, DSG2 and JUP). 21859740

2011

Entrez Id: 6273
Gene Symbol: S100A2
S100A2
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 AlteredExpression BEFREE IDC cells associated with poorly differentiated adenocarcinoma expressed higher levels of S100A2 than did IDC cells without poorly differentiated adenocarcinoma (p = 0.006). 17940995

2007

Entrez Id: 6275
Gene Symbol: S100A4
S100A4
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 AlteredExpression BEFREE IDC cells expressed higher levels of S100A4 than IPMN cells (P = 0.002) and normal ductal cells (P < 0.001), although the difference between IPMN cells and normal ductal cells was not statistically significant (P = 0.070). 19653048

2009

Entrez Id: 558
Gene Symbol: AXL
AXL
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 Biomarker BEFREE IDC-specific regions include genes with previous links to breast cancer progression and potential therapeutic targets such as AXL, SPHK1 and PLAUR. 22052326

2012