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: 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: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.310 GeneticVariation disease BEFREE Our study indicates that POC1B is required for retinal integrity, and we propose POC1B mutations as a probable cause for JBTS with severe PKD. 25044745 2014
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.110 Biomarker disease BEFREE POC1B is a novel gene for a new disease typical of CORD except that patients did not report night blindness. 24945461 2014
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 GeneticVariation group BEFREE Furthermore, this conclusion is supported by recent findings that mutations in POC1B gene have been identified in patients with inherited retinal dystrophy and syndromic retinal ciliopathy. 26188096 2015
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: 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: C1836946
Disease: Peripheral Cone Dystrophy
Peripheral Cone Dystrophy 		0.020 GeneticVariation disease BEFREE Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family. 29377742 2018
CUI: C1836946
Disease: Peripheral Cone Dystrophy
Peripheral Cone Dystrophy 		0.020 Biomarker disease BEFREE Generalized or peripheral cone dystrophy with normal funduscopic appearance is the representative phenotype of POC1B-associated retinopathy in our cohort. 31390656 2019
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: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.020 Biomarker disease BEFREE POC1B may be a novel pathogenic gene for PKD. 26650803 2016
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.020 GeneticVariation disease BEFREE Our study indicates that POC1B is required for retinal integrity, and we propose POC1B mutations as a probable cause for JBTS with severe PKD. 25044745 2014
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		0.010 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: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.010 Biomarker group BEFREE Generalized or peripheral cone dystrophy with normal funduscopic appearance is the representative phenotype of POC1B-associated retinopathy in our cohort. 31390656 2019
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: C1859308
Disease: PREMATURE CENTROMERE DIVISION
PREMATURE CENTROMERE DIVISION 		0.010 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: 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: 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
CUI: C4551720
Disease: Primary Ciliary Dyskinesia
Primary Ciliary Dyskinesia 		0.010 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: 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