MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: Meckel-Gruber syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834043
rs386834043
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		G 0.700 CausalMutation CLINVAR A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. 17935508 2007
dbSNP: rs386834043
rs386834043
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		G 0.700 CausalMutation CLINVAR Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820 2007
dbSNP: rs386834043
rs386834043
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		G 0.700 CausalMutation CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051 2007
dbSNP: rs386834043
rs386834043
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		G 0.700 CausalMutation CLINVAR Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. 17437276 2007
dbSNP: rs386834043
rs386834043
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0265215
Disease:
Meckel-Gruber syndrome 		G 0.700 CausalMutation CLINVAR MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006