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: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		0.010 GeneticVariation disease BEFREE The cone dystrophy associated with POC1B variants has features similar to achromatopsia, and genetic analyses is useful in discriminating these two diseases. 29220607 2018
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		0.010 GeneticVariation disease BEFREE The cone dystrophy associated with POC1B variants has features similar to achromatopsia, and genetic analyses is useful in discriminating these two diseases. 29220607 2018
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.100 GeneticVariation phenotype GWASCAT Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. 29912962 2018
CUI: C2931258
Disease: Amaurosis congenita of Leber, type 1
Amaurosis congenita of Leber, type 1 		0.010 GeneticVariation disease BEFREE Targeted next-generation sequencing for excluding mutations in known LCA and JBTS genes, homozygosity mapping, and whole-exome sequencing identified a homozygous missense variant, c.317G>C (p.Arg106Pro), in POC1B, a gene essential for ciliogenesis, basal body, and centrosome integrity. 25044745 2014
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.100 GeneticVariation phenotype GWASDB Blood pressure loci identified with a gene-centric array. 22100073 2011
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.020 Biomarker disease BEFREE A morpholino knockdown and complementation assay of poc1b in zebrafish showed that loss of poc1b led to a range of morphological anomalies of cilia commonly associated with human ciliopathies. 26188096 2015
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.020 Biomarker disease BEFREE Knockdown of Poc1b in zebrafish caused cystic kidneys and retinal degeneration with shortened and reduced photoreceptor connecting cilia, compatible with the human syndromic ciliopathy. 25044745 2014
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.100 Biomarker phenotype HPO
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
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: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.110 GeneticVariation disease BEFREE Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.110 Biomarker disease HPO
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.330 GeneticVariation disease BEFREE Screening for POC1B mutation could benefit families afflicted with CORD. 24945461 2014
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.330 GeneticVariation disease BEFREE PCD was a type of COD or CORD and the novel compound heterozygous mutation in POC1B was responsible for PCD phenotype in the family. 29377742 2018
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.330 GeneticVariation disease BEFREE Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.330 GermlineCausalMutation disease ORPHANET Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
CONE-ROD DYSTROPHY 20 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
CONE-ROD DYSTROPHY 20 		0.700 Biomarker disease GENOMICS_ENGLAND Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family. 29377742 2018
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
CONE-ROD DYSTROPHY 20 		0.700 GeneticVariation disease UNIPROT Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
CONE-ROD DYSTROPHY 20 		0.700 Biomarker disease GENOMICS_ENGLAND Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
CONE-ROD DYSTROPHY 20 		0.700 Biomarker disease CTD_human
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
CONE-ROD DYSTROPHY 20 		0.700 CausalMutation disease CLINVAR Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014