POC1B, POC1 centriolar protein B, 282809

N. diseases: 40; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
0.010 GeneticVariation disease BEFREE Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014