Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 CausalMutation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.410 CausalMutation CLINVAR

Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 CausalMutation CLINVAR

Entrez Id: 8048
Gene Symbol: CSRP3
CSRP3
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.370 GeneticVariation CLINVAR

Entrez Id: 84665
Gene Symbol: MYPN
MYPN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.130 GeneticVariation CLINVAR

Entrez Id: 10529
Gene Symbol: NEBL
NEBL
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.110 GeneticVariation CLINVAR

Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.110 GeneticVariation CLINVAR

Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.110 CausalMutation CLINVAR

Entrez Id: 9464
Gene Symbol: HAND2
HAND2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 CausalMutation CLINVAR

Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 GeneticVariation CLINVAR

Entrez Id: 10848
Gene Symbol: PPP1R13L
PPP1R13L
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 CausalMutation CLINVAR

Entrez Id: 10102
Gene Symbol: TSFM
TSFM
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 CausalMutation CLINVAR

Entrez Id: 145781
Gene Symbol: GCOM1
GCOM1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 GeneticVariation CLINVAR

Entrez Id: 4633
Gene Symbol: MYL2
MYL2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 GeneticVariation CLINVAR

Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 CausalMutation CLINVAR

Entrez Id: 79804
Gene Symbol: HAND2-AS1
HAND2-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 CausalMutation CLINVAR

Entrez Id: 100820829
Gene Symbol: MYZAP
MYZAP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 GeneticVariation CLINVAR

Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 GeneticVariation CLINVAR

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.400 CausalMutation CLINVAR "Disease mutations in the ""head"" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties." 19763525

2009
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.490 GeneticVariation CLINVAR 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 19477645

2009
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.490 CausalMutation CLINVAR 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 19477645

2009
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.500 CausalMutation CLINVAR Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation. 28790152

2017
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.500 GeneticVariation CLINVAR Dilated cardiomyopathies caused by LMNA gene defects are highly penetrant, adult onset, malignant diseases characterized by a high rate of heart failure and life-threatening arrhythmias, predicted by New York Heart Association functional class, competitive sport activity, and type of mutation. 18926329

2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.500 CausalMutation CLINVAR Dilated cardiomyopathies caused by LMNA gene defects are highly penetrant, adult onset, malignant diseases characterized by a high rate of heart failure and life-threatening arrhythmias, predicted by New York Heart Association functional class, competitive sport activity, and type of mutation. 18926329

2008
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.490 GeneticVariation CLINVAR A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs. 23153285

2012