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 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: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.100 CausalMutation group CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.100 CausalMutation group CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
CUI: C0152021
Disease: Congenital heart disease
Congenital heart disease 		0.100 CausalMutation group CLINVAR Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 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: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		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: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: 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 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 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: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		0.100 CausalMutation disease CLINVAR Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		0.100 CausalMutation disease CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		0.100 CausalMutation disease CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.100 GeneticVariation phenotype GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation phenotype CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation phenotype CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 CausalMutation phenotype CLINVAR Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016