rs76216585, POC1B

N. diseases: 9
Disease: Congenital heart disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
0.700 CausalMutation CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
0.700 CausalMutation CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
0.700 CausalMutation CLINVAR Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014