MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: Meckel syndrome type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834048
rs386834048
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		T 0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
dbSNP: rs386834048
rs386834048
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		T 0.700 GeneticVariation CLINVAR Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. 17437276 2007
dbSNP: rs386834048
rs386834048
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		T 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: rs386834048
rs386834048
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		T 0.700 GeneticVariation CLINVAR Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820 2007
dbSNP: rs386834048
rs386834048
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		T 0.700 CausalMutation CLINVAR