rs137853105, MKS1

N. diseases: 4
Disease: BARDET-BIEDL SYNDROME 13 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BARDET-BIEDL SYNDROME 13
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
BARDET-BIEDL SYNDROME 13
CUI: C2673873
Disease: BARDET-BIEDL SYNDROME 13
0.800 CausalMutation CLINVAR