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: rs137853105
rs137853105
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		0.800 GeneticVariation UNIPROT Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255 2008
dbSNP: rs137853105
rs137853105
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C2673873
Disease:
BARDET-BIEDL SYNDROME 13 		C 0.800 CausalMutation CLINVAR