MYLK, myosin light chain kinase, 4638

N. diseases: 199; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060502531
rs1060502531
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1302330903
rs1302330903
Entrez Id: 4638;105369194
Gene Symbol: MYLK;LOC105369194
MYLK;LOC105369194
CUI: C0040580
Disease:
Tracheal Diseases 		0.010 GeneticVariation BEFREE Carbachol concentration/temporal-force responses were similar in trachea from MYPT1<sup>SM+/+</sup> , MYPT1<sup>SM-/-</sup> and the knock-in mutant mice containing nonphosphorylatable MYPT1 T853A with no differences in RLC phosphorylation. 28749013 2017
dbSNP: rs1343700
rs1343700
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0021704
Disease:
Intelligence 		A 0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs1382893400
rs1382893400
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		A 0.700 CausalMutation CLINVAR Mutations in myosin light chain kinase cause familial aortic dissections. 21055718 2010
dbSNP: rs1430822242
rs1430822242
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		T 0.700 GeneticVariation CLINVAR Mutations in myosin light chain kinase cause familial aortic dissections. 21055718 2010
dbSNP: rs150936840
rs150936840
Entrez Id: 4638;105369194
Gene Symbol: MYLK;LOC105369194
MYLK;LOC105369194
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553780501
rs1553780501
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1553781304
rs1553781304
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		A 0.700 CausalMutation CLINVAR Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history. 28401540 2017
dbSNP: rs1553785222
rs1553785222
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		TG 0.700 GeneticVariation CLINVAR Mutations in myosin light chain kinase cause familial aortic dissections. 21055718 2010
dbSNP: rs1553787619
rs1553787619
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0042781
Disease:
Visceral Myopathy 		A 0.700 CausalMutation CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
dbSNP: rs1553787619
rs1553787619
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C1855311
Disease:
Megacystis 		A 0.700 CausalMutation CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
dbSNP: rs1553787823
rs1553787823
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C2931117
Disease:
Fetal megacystis 		TCGCTTTC 0.700 CausalMutation CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
dbSNP: rs1553787823
rs1553787823
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0042781
Disease:
Visceral Myopathy 		TCGCTTTC 0.700 CausalMutation CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
dbSNP: rs1553787823
rs1553787823
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0149632
Disease:
Abnormality of the bladder 		TCGCTTTC 0.700 CausalMutation CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
dbSNP: rs1553787823
rs1553787823
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0266200
Disease:
Microcolon 		TCGCTTTC 0.700 CausalMutation CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
dbSNP: rs1553808296
rs1553808296
Entrez Id: 4638;105369194
Gene Symbol: MYLK;LOC105369194
MYLK;LOC105369194
CUI: C0002940
Disease:
Aneurysm 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1553808296
rs1553808296
Entrez Id: 4638;105369194
Gene Symbol: MYLK;LOC105369194
MYLK;LOC105369194
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs2222823
rs2222823
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0020473
Disease:
Hyperlipidemia 		0.010 GeneticVariation BEFREE The SNP rs2222823 was significant (P= 0.035) in comparing S with H. In comparing S versus L, it is significant for the subgroups of patients without diabetes (P= 0.012) and drinking (P= 0.018). rs2811712 was significant in comparing S with L for the subgroups of patients with hyperlipidemia (P= 0.029) and drinking (P= 0.04). 22621687 2012
dbSNP: rs2222823
rs2222823
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0011847
Disease:
Diabetes 		0.010 GeneticVariation BEFREE The SNP rs2222823 was significant (P= 0.035) in comparing S with H. In comparing S versus L, it is significant for the subgroups of patients without diabetes (P= 0.012) and drinking (P= 0.018). rs2811712 was significant in comparing S with L for the subgroups of patients with hyperlipidemia (P= 0.029) and drinking (P= 0.04). 22621687 2012
dbSNP: rs2222823
rs2222823
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C2733158
Disease:
Cerebral Small Vessel Diseases 		0.010 GeneticVariation BEFREE The heterozygotes (T/A) at the rs2222823 SNP locus of MYLK gene decreases the risk of having cerebral small vessel disease, while the heterozygotes (C/T) at the rs2811712 SNP locus of INK4/ARF gene increases the risk, suggesting that the MYLK and INK4/ARF are the associated genes of cerebral small vessel disease in Han Chinese population. 22621687 2012
dbSNP: rs2222823
rs2222823
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0011849
Disease:
Diabetes Mellitus 		0.010 GeneticVariation BEFREE The SNP rs2222823 was significant (P= 0.035) in comparing S with H. In comparing S versus L, it is significant for the subgroups of patients without diabetes (P= 0.012) and drinking (P= 0.018). rs2811712 was significant in comparing S with L for the subgroups of patients with hyperlipidemia (P= 0.029) and drinking (P= 0.04). 22621687 2012
dbSNP: rs2682204
rs2682204
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs2682204
rs2682204
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs28497577
rs28497577
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0004096
Disease:
Asthma 		0.010 GeneticVariation BEFREE Three MYLK SNPs (P21H, S147P, V261A) alter the N-terminal amino acid sequence of the non-muscle isoform of MLCK (nmMLCK) and are highly associated with susceptibility to acute lung injury (ALI) and asthma, especially in individuals of African descent. 26111161 2015
dbSNP: rs368390254
rs368390254
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013