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: rs137853105
rs137853105
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13
C 0.800 CausalMutation CLINVAR
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: rs62083740
rs62083740
Entrez Id: 54903;105371841
Gene Symbol: MKS1;LOC105371841
MKS1;LOC105371841
CUI: C2985280
Disease:
Blood Protein Measurement
C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs386834048
rs386834048
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease:
Meckel-Gruber syndrome
T 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568 2017
dbSNP: rs386834048
rs386834048
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis
T 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568 2017
dbSNP: rs766392300
rs766392300
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease:
Meckel-Gruber syndrome
C 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568 2017
dbSNP: rs766392300
rs766392300
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis
C 0.700 CausalMutation CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568 2017
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: 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: rs386834043
rs386834043
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis
G 0.700 CausalMutation CLINVAR MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. 27377014 2016
dbSNP: rs386834048
rs386834048
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis
T 0.700 CausalMutation CLINVAR MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104 2016
dbSNP: rs386834048
rs386834048
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease:
Meckel-Gruber syndrome
T 0.700 CausalMutation CLINVAR MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104 2016
dbSNP: rs754279998
rs754279998
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13
T 0.700 GeneticVariation CLINVAR Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. 27570071 2016
dbSNP: rs754279998
rs754279998
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1
T 0.700 GeneticVariation CLINVAR Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. 27570071 2016
dbSNP: rs754279998
rs754279998
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C4310705
Disease:
JOUBERT SYNDROME 28
T 0.700 GeneticVariation CLINVAR MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104 2016
dbSNP: rs754279998
rs754279998
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13
T 0.700 GeneticVariation CLINVAR MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104 2016
dbSNP: rs754279998
rs754279998
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1
T 0.700 GeneticVariation CLINVAR MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104 2016
dbSNP: rs754279998
rs754279998
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C4310705
Disease:
JOUBERT SYNDROME 28
T 0.700 GeneticVariation CLINVAR Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. 27570071 2016
dbSNP: rs754279998
rs754279998
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease:
Meckel-Gruber syndrome
T 0.700 CausalMutation CLINVAR Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. 27570071 2016
dbSNP: rs754279998
rs754279998
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0431399
Disease:
Familial aplasia of the vermis
T 0.700 CausalMutation CLINVAR Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. 27570071 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 MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104 2016
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 regulates ciliary INPP5E levels in Joubert syndrome. 26490104 2016
dbSNP: rs111786708
rs111786708
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
C 0.700 GeneticVariation GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015