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: rs387906781
rs387906781
Entrez Id: 4638;100506826
Gene Symbol: MYLK;MYLK-AS1
MYLK;MYLK-AS1
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7
G 0.800 CausalMutation CLINVAR
dbSNP: rs1060502531
rs1060502531
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7
A 0.700 GeneticVariation CLINVAR
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: 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: rs387906781
rs387906781
Entrez Id: 4638;100506826
Gene Symbol: MYLK;MYLK-AS1
MYLK;MYLK-AS1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection
G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906782
rs387906782
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7
A 0.700 CausalMutation CLINVAR
dbSNP: rs778050996
rs778050996
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7
A 0.700 GeneticVariation CLINVAR
dbSNP: rs928811814
rs928811814
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7
A 0.700 GeneticVariation CLINVAR
dbSNP: rs9840993
rs9840993
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0004096
Disease:
Asthma
0.030 GeneticVariation BEFREE We studied 17 MYLK genetic variants in European and African Americans with asthma and severe asthma and identified a single non-synonymous polymorphism (Pro147Ser) that was almost entirely restricted to African populations and which was associated with severe asthma in African Americans. 17266121 2007
dbSNP: rs936170
rs936170
Entrez Id: 4638;105369194
Gene Symbol: MYLK;LOC105369194
MYLK;LOC105369194
CUI: C0004096
Disease:
Asthma
0.020 GeneticVariation BEFREE Significant associations between MYLK SNPs and asthma and total serum IgE concentrations were observed in the African Caribbean families: a promoter SNP (rs936170) in the smooth muscle form gave the strongest association (P = .009). 17472811 2007
dbSNP: rs387906781
rs387906781
Entrez Id: 4638;100506826
Gene Symbol: MYLK;MYLK-AS1
MYLK;MYLK-AS1
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7
0.800 GeneticVariation UNIPROT Mutations in myosin light chain kinase cause familial aortic dissections. 21055718 2010
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: 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: rs368390254
rs368390254
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7
0.700 GeneticVariation UNIPROT Mutations in myosin light chain kinase cause familial aortic dissections. 21055718 2010
dbSNP: rs936170
rs936170
Entrez Id: 4638;105369194
Gene Symbol: MYLK;LOC105369194
MYLK;LOC105369194
CUI: C0004096
Disease:
Asthma
0.020 GeneticVariation BEFREE We studied the potential regulatory roles of two intronic MYLK SNPs (rs936170 and rs820336) previously associated with ALI and asthma. 22015949 2012
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: rs820336
rs820336
Entrez Id: 4638;105369194
Gene Symbol: MYLK;LOC105369194
MYLK;LOC105369194
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE We studied the potential regulatory roles of two intronic MYLK SNPs (rs936170 and rs820336) previously associated with ALI and asthma. 22015949 2012
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
dbSNP: rs368390254
rs368390254
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7
0.700 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014