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: 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: rs863225208
rs863225208
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		0.700 GeneticVariation UNIPROT Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712 2009
dbSNP: rs863225208
rs863225208
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C3714506
Disease:
Meckel syndrome type 1 		0.700 GeneticVariation UNIPROT MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006