×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.400
GeneticVariation
disease
CLINVAR
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
26490104
2016
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.400
GeneticVariation
disease
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
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.400
GeneticVariation
disease
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.400
GeneticVariation
disease
CLINVAR
Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
24886560
2014
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.400
CausalMutation
disease
CLINVAR
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies.
23351400
2012
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.400
GeneticVariation
disease
CLINVAR
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
21228398
2011
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.400
GeneticVariation
disease
CLINVAR
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
17377820
2007
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.400
GeneticVariation
disease
CLINVAR
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
17397051
2007
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.400
GeneticVariation
disease
CLINVAR
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
17437276
2007
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.400
GeneticVariation
disease
CLINVAR
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
16415886
2006
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.400
Biomarker
disease
GENOMICS_ENGLAND
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
16415886
2006
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.400
CausalMutation
disease
CLINVAR
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
16415886
2006
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.400
Biomarker
disease
GENOMICS_ENGLAND
The effect of superinfection by T4r+ coliphage on the deoxyribonucleeases of induced Escherichia coli Y10.
4886560
1969
×
Entrez Id:
4025
Gene Symbol:
LPO
LPO
0.100
GeneticVariation
disease
CLINVAR
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
17397051
2007
×
Entrez Id:
4025
Gene Symbol:
LPO
LPO
0.100
GeneticVariation
disease
CLINVAR
MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
16415886
2006