MYLK, myosin light chain kinase, 4638

N. diseases: 199; N. variants: 28
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 CausalMutation disease CLINVAR Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history. 28401540 2017
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 Biomarker disease GENOMICS_ENGLAND Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting. 26188975 2015
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 Biomarker disease GENOMICS_ENGLAND Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. 25907466 2015
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in myosin light chain kinase cause familial aortic dissections. 21055718 2010
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 GeneticVariation disease UNIPROT Mutations in myosin light chain kinase cause familial aortic dissections. 21055718 2010
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 GeneticVariation disease CLINVAR Mutations in myosin light chain kinase cause familial aortic dissections. 21055718 2010
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 CausalMutation disease CLINVAR Mutations in myosin light chain kinase cause familial aortic dissections. 21055718 2010
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 Biomarker disease CTD_human