MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: JOUBERT SYNDROME 28 ×
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: C4310705
Disease:
JOUBERT SYNDROME 28 		G 0.700 CausalMutation CLINVAR Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. 23351400 2012
dbSNP: rs386834043
rs386834043
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C4310705
Disease:
JOUBERT SYNDROME 28 		G 0.700 CausalMutation CLINVAR MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006