MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: BARDET-BIEDL SYNDROME 13 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754279998
rs754279998
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		T 0.700 GeneticVariation 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
dbSNP: rs754279998
rs754279998
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		T 0.700 GeneticVariation CLINVAR MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104 2016
dbSNP: rs754279998
rs754279998
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		T 0.700 GeneticVariation CLINVAR Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560 2014