POC1B, POC1 centriolar protein B, 282809

N. diseases: 40; N. variants: 11
Disease: Cone Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		0.030 Biomarker disease BEFREE Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance. 31390656 2019
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		0.030 Biomarker disease BEFREE The purpose of this study was to report the phenotype of a case of POC1B-associated cone dystrophy. 29220607 2018
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		0.030 GeneticVariation disease BEFREE Exome sequencing revealed a homozygous missense mutation (c.317C>G [p.Arg106Pro]) in POC1B, encoding POC1 centriolar protein B, in three siblings with autosomal-recessive cone dystrophy or cone-rod dystrophy and compound-heterozygous POC1B mutations (c.199_201del [p.Gln67del] and c.810+1G>T) in an unrelated person with cone-rod dystrophy. 25018096 2014