Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 GeneticVariation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 CausalMutation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 GeneticVariation CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483

2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 CausalMutation CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482

2007
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 GeneticVariation CLINVAR Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. 16585054

2006
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 GeneticVariation CLINVAR Primary prevention of sudden death in patients with lamin A/C gene mutations. 16407522

2006
Entrez Id: 387119
Gene Symbol: CEP85L
CEP85L
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 GeneticVariation CLINVAR

Entrez Id: 4000
Gene Symbol: LMNA
LMNA
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 CausalMutation CLINVAR

Entrez Id: 100529097
Gene Symbol: RPL36A-HNRNPH2
RPL36A-HNRNPH2
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 CausalMutation CLINVAR

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 CausalMutation CLINVAR

Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 GeneticVariation CLINVAR

Entrez Id: 4563
Gene Symbol: TRNG
TRNG
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 CausalMutation CLINVAR

Entrez Id: 4565
Gene Symbol: TRNI
TRNI
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 CausalMutation CLINVAR

Entrez Id: 1674
Gene Symbol: DES
DES
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 GeneticVariation CLINVAR

Entrez Id: 2717
Gene Symbol: GLA
GLA
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 GeneticVariation CLINVAR

Entrez Id: 8557
Gene Symbol: TCAP
TCAP
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 CausalMutation CLINVAR

Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 GeneticVariation CLINVAR

Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 GeneticVariation CLINVAR

Entrez Id: 100529097
Gene Symbol: RPL36A-HNRNPH2
RPL36A-HNRNPH2
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.100 GeneticVariation CLINVAR

Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.110 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.110 CausalMutation CLINVAR Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy. 26443374

2016
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.110 CausalMutation CLINVAR Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting. 22131351

2012
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.110 CausalMutation CLINVAR Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. 21823217

2011
Entrez Id: 4634
Gene Symbol: MYL3
MYL3
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.110 CausalMutation CLINVAR Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology. 12021217

2002