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: 4629
Gene Symbol: MYH11
MYH11 		myosin heavy chain 11 0.528 0.731 0.77
CUI: C1851504
Disease: Aortic aneurysm, familial thoracic 4
Aortic aneurysm, familial thoracic 4 		disease 0.700 None 1.000 4 6 2006 2016
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		myosin heavy chain 11 0.528 0.731 0.77
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease 0.600 definitive 1.000 1 4 2005 2019
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		myosin heavy chain 11 0.528 0.731 0.77
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		disease 0.100 None 1.000 1 1 2015 2015
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		myosin heavy chain 11 0.528 0.731 0.77
CUI: C0002940
Disease: Aneurysm
Aneurysm 		disease 0.100 None 0 1
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		myosin heavy chain 11 0.528 0.731 0.77
CUI: C0026266
Disease: Mitral Valve Insufficiency
Mitral Valve Insufficiency 		phenotype 0.100 None 0 1
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		myosin heavy chain 11 0.528 0.731 0.77
CUI: C0027092
Disease: Myopia
Myopia 		disease 0.100 None 0 1
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		myosin heavy chain 11 0.528 0.731 0.77
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		disease 0.100 None 0 1
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		myosin heavy chain 11 0.528 0.731 0.77
CUI: C0344905
Disease: Left ventricular abnormality
Left ventricular abnormality 		group 0.100 None 0 1
Entrez Id: 4629
Gene Symbol: MYH11
MYH11 		myosin heavy chain 11 0.528 0.731 0.77
CUI: C1298820
Disease: Aneurysm of aortic root
Aneurysm of aortic root 		disease 0.100 None 0 1