Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.800 definitive 0.988 272 129 1990 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		disease 0.800 strong 1.000 11 35 1999 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		disease 0.800 strong 1.000 5 14 1999 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		disease 0.700 strong 1.000 198 78 1961 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S 		disease 0.700 strong 1.000 6 23 1999 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C1850709
Disease: Myopathy, Hyaline Body, Autosomal Recessive
Myopathy, Hyaline Body, Autosomal Recessive 		disease 0.700 strong 1.000 5 11 1999 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		disease 0.700 strong 1.000 5 13 1999 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		disease 0.500 None 0.992 230 94 1985 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.500 strong 1.000 0 14 2001 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.490 None 1.000 36 24 1989 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		disease 0.470 None 1.000 13 8 2007 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0013481
Disease: Ebstein Anomaly
Ebstein Anomaly 		disease 0.440 None 1.000 1 1 2011 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion 		disease 0.440 None 1.000 0 10 2011 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		disease 0.410 None 1.000 0 3 2000 2005
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C3150690
Disease: LEFT VENTRICULAR NONCOMPACTION 5
LEFT VENTRICULAR NONCOMPACTION 5 		disease 0.400 strong 0 6
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		disease 0.330 None 1.000 0 1 1987 2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.200 None 0.957 0 2 1993 2019
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		disease 0.180 None 1.000 2 5 2009 2018
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease 0.110 None 1.000 13 4 2003 2017
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		group 0.110 None 1.000 1 1 2013 2016
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		disease 0.110 None < 0.001 0 2 2007 2007
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group 0.100 None 1.000 8 2 2003 2015
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C4023166
Disease: Abnormality of T cell physiology
Abnormality of T cell physiology 		phenotype 0.100 None 0 1
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C4016270
Disease: CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC
CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC 		disease 0.100 None 0 1
Entrez Id: 4625
Gene Symbol: MYH7
MYH7 		myosin heavy chain 7 0.516 0.692 4.2E-16
CUI: C4023612
Disease: Abnormality of cellular immune system
Abnormality of cellular immune system 		phenotype 0.100 None 0 1