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: 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 CausalMutation disease CLINVAR 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 CausalMutation disease CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
CONE-ROD DYSTROPHY 20 		0.700 GeneticVariation disease UNIPROT Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
CONE-ROD DYSTROPHY 20 		0.700 GeneticVariation disease UNIPROT Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
CONE-ROD DYSTROPHY 20 		0.700 CausalMutation disease CLINVAR 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 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 GENOMICS_ENGLAND
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
CONE-ROD DYSTROPHY 20 		0.700 Biomarker disease CTD_human
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 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 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: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.310 Biomarker disease GENOMICS_ENGLAND Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family. 29377742 2018
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.310 Biomarker disease GENOMICS_ENGLAND Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 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: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.300 Biomarker disease GENOMICS_ENGLAND
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: 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 CausalMutation group CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 CausalMutation group CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 CausalMutation group CLINVAR 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 GeneticVariation disease BEFREE Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014