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: rs137853105
rs137853105
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		0.800 GeneticVariation UNIPROT Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255 2008
dbSNP: rs185405908
rs185405908
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0200638
Disease:
Eosinophil count procedure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs201845154
rs201845154
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
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: rs201845154
rs201845154
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		0.700 GeneticVariation UNIPROT MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104 2016
dbSNP: rs201845154
rs201845154
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
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
dbSNP: rs773684291
rs773684291
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		0.700 GeneticVariation UNIPROT
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: 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
dbSNP: rs863225208
rs863225208
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
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
dbSNP: rs863225208
rs863225208
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
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: rs863225208
rs863225208
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		0.700 GeneticVariation UNIPROT MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104 2016
dbSNP: rs863225210
rs863225210
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
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: rs863225210
rs863225210
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		0.700 GeneticVariation UNIPROT MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104 2016
dbSNP: rs863225210
rs863225210
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
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
dbSNP: rs1114167302
rs1114167302
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		0.010 GeneticVariation BEFREE In our patient, a next generation sequencing (NGS) approach revealed the following two variants of the MKS1 gene: first, a novel missense variant [ c.240G > T (p.Trp80Cys)], which affects a residue that is evolutionarily highly conserved in mammals and ciliates; second, a 29 bp deletion in intron 15 [c.1408-35_1408-7del29], a founder mutation, which in a homozygous state constitutes the major cause of MKS in Finland. 27377014 2016
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: rs886044605
rs886044605
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		0.010 GeneticVariation BEFREE We identified a homozygous c.301A>C (p.Ser101Arg) B9D2 mutation that segregates with MKS, affects an evolutionarily conserved residue, and is absent from controls. 21763481 2011
dbSNP: rs1114167302
rs1114167302
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis 		A 0.700 GeneticVariation CLINVAR MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. 27377014 2016
dbSNP: rs1555596845
rs1555596845
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C4310705
Disease:
JOUBERT SYNDROME 28 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555596845
rs1555596845
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555596845
rs1555596845
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555599412
rs1555599412
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		A 0.700 GeneticVariation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
dbSNP: rs1555599412
rs1555599412
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		A 0.700 CausalMutation CLINVAR