MYLK, myosin light chain kinase, 4638

N. diseases: 199; N. variants: 28
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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker disease CLINGEN Autoregulatory Control of Smooth Muscle Myosin Light Chain Kinase Promoter by Notch Signaling. 26703474 2016
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker disease CLINGEN Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. 25907466 2015
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker disease CLINGEN Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting. 26188975 2015
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker disease CLINGEN Signaling through myosin light chain kinase in smooth muscles. 23362260 2013
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker disease CLINGEN Notch transcriptional control of vascular smooth muscle regulatory gene expression and function. 23482558 2013
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker disease CLINGEN Mutations in myosin light chain kinase cause familial aortic dissections. 21055718 2010
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 GeneticVariation disease CLINVAR
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1608393
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome 		0.510 Biomarker disease GENOMICS_ENGLAND Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
CUI: C1608393
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome 		0.510 GeneticVariation disease BEFREE Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
CUI: C1608393
Disease: Megacystis microcolon intestinal hypoperistalsis syndrome
Megacystis microcolon intestinal hypoperistalsis syndrome 		0.510 GermlineCausalMutation disease ORPHANET Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.350 AlteredExpression phenotype BEFREE Furthermore, AR-v12, serving as a transcription factor, promoted metastasis through regulating the promoter activity of MYLK. 30737779 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.350 AlteredExpression phenotype BEFREE High MYLK expression was significantly correlated with aggressive clinicopathological features including tumor encapsulation, microvascular invasion and metastasis. 29855744 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.350 Biomarker phenotype BEFREE Finally, up-regulating circRNA-MYLK promoted the growth, angiogenesis and metastasis of BC xenografts. 28687357 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.350 Biomarker phenotype CTD_human Myosin light-chain kinase (MLCK) plays a crucial role in the cell migration and tumor metastasis. 18710790 2008
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.350 Biomarker phenotype BEFREE Myosin light-chain kinase (MLCK) plays a crucial role in the cell migration and tumor metastasis. 18710790 2008
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.350 AlteredExpression phenotype BEFREE We found that levels of MLCK mRNA expression were higher in patients who showed disease recurrence and distant metastasis than in those who did not. 15970650 2005