MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2302313
rs2302313
Entrez Id: 8288;54903
Gene Symbol: EPX;MKS1
EPX;MKS1
CUI: C0007102
Disease:
Malignant tumor of colon 		0.010 GeneticVariation BEFREE Only NOS2A rs2297518 was associated with colon cancer (OR 0.86 95% CI 0.74, 0.99) and EPX rs2302313 and MPO rs2243828 were associated with rectal cancer (OR 0.75 95% CI 0.59, 0.96; OR 0.81 95% CI 0.67, 0.99 respectively) for main effects. 22531693 2012
dbSNP: rs2302313
rs2302313
Entrez Id: 8288;54903
Gene Symbol: EPX;MKS1
EPX;MKS1
CUI: C0699790
Disease:
Colon Carcinoma 		0.010 GeneticVariation BEFREE Only NOS2A rs2297518 was associated with colon cancer (OR 0.86 95% CI 0.74, 0.99) and EPX rs2302313 and MPO rs2243828 were associated with rectal cancer (OR 0.75 95% CI 0.59, 0.96; OR 0.81 95% CI 0.67, 0.99 respectively) for main effects. 22531693 2012
dbSNP: rs1555601787
rs1555601787
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C4310705
Disease:
JOUBERT SYNDROME 28 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555601787
rs1555601787
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C3714506
Disease:
Meckel syndrome type 1 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555601787
rs1555601787
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs375170572
rs375170572
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C3714506
Disease:
Meckel syndrome type 1 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs375170572
rs375170572
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C0431399
Disease:
Familial aplasia of the vermis 		G 0.700 GeneticVariation CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051 2007
dbSNP: rs375170572
rs375170572
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C4310705
Disease:
JOUBERT SYNDROME 28 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs375170572
rs375170572
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		G 0.700 GeneticVariation CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051 2007
dbSNP: rs375170572
rs375170572
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs386834046
rs386834046
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C3714506
Disease:
Meckel syndrome type 1 		C 0.700 GeneticVariation CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051 2007
dbSNP: rs386834046
rs386834046
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		C 0.700 GeneticVariation CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051 2007
dbSNP: rs386834046
rs386834046
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C4310705
Disease:
JOUBERT SYNDROME 28 		C 0.700 GeneticVariation CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051 2007
dbSNP: rs386834051
rs386834051
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		TCCCGG 0.700 GeneticVariation CLINVAR MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006
dbSNP: rs386834051
rs386834051
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C3714506
Disease:
Meckel syndrome type 1 		TCCCGG 0.700 GeneticVariation CLINVAR MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006
dbSNP: rs386834051
rs386834051
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C4310705
Disease:
JOUBERT SYNDROME 28 		TCCCGG 0.700 GeneticVariation CLINVAR MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006
dbSNP: rs386834052
rs386834052
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C3714506
Disease:
Meckel syndrome type 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs386834052
rs386834052
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C3714506
Disease:
Meckel syndrome type 1 		G 0.700 GeneticVariation CLINVAR MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006
dbSNP: rs386834052
rs386834052
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		G 0.700 GeneticVariation CLINVAR MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006
dbSNP: rs386834052
rs386834052
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C4310705
Disease:
JOUBERT SYNDROME 28 		G 0.700 GeneticVariation CLINVAR MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006
dbSNP: rs730880323
rs730880323
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C3714506
Disease:
Meckel syndrome type 1 		CCCGGG 0.700 CausalMutation CLINVAR
dbSNP: rs863225205
rs863225205
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C3714506
Disease:
Meckel syndrome type 1 		0.700 GeneticVariation UNIPROT MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006
dbSNP: rs863225205
rs863225205
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C3714506
Disease:
Meckel syndrome type 1 		0.700 GeneticVariation UNIPROT MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104 2016
dbSNP: rs863225205
rs863225205
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs863225205
rs863225205
Entrez Id: 4025;54903;105371841
Gene Symbol: LPO;MKS1;LOC105371841
LPO;MKS1;LOC105371841
CUI: C3714506
Disease:
Meckel syndrome type 1 		0.700 GeneticVariation UNIPROT Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712 2009