rs76216585, POC1B

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CONE-ROD DYSTROPHY 20
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
0.800 CausalMutation CLINVAR Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014
CONE-ROD DYSTROPHY 20
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
0.800 CausalMutation CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
CONE-ROD DYSTROPHY 20
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
0.800 GeneticVariation UNIPROT Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
CONE-ROD DYSTROPHY 20
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
0.800 GeneticVariation UNIPROT Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014
CONE-ROD DYSTROPHY 20
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
0.800 CausalMutation CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
CONE-ROD DYSTROPHY 20
CUI: C4014856
Disease: CONE-ROD DYSTROPHY 20
0.800 GeneticVariation UNIPROT Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.700 CausalMutation CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
0.700 CausalMutation CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
Hepatic Fibrosis, Congenital
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
0.700 CausalMutation CLINVAR Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014
Hepatic Fibrosis, Congenital
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
0.700 CausalMutation CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR Mutation of POC1B in a severe syndromic retinal ciliopathy. 25044745 2014
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
0.700 CausalMutation CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.700 CausalMutation CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
Retinal Dystrophies
CUI: C0854723
Disease: Retinal Dystrophies
0.700 CausalMutation CLINVAR Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
0.700 CausalMutation CLINVAR Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 25018096 2014
Hepatic Fibrosis, Congenital
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
0.700 CausalMutation CLINVAR Novel recessive cone-rod dystrophy caused by POC1B mutation. 24945461 2014
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
0.020 GeneticVariation 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
Rod-Cone Dystrophy
CUI: C4551714
Disease: Rod-Cone Dystrophy
0.020 GeneticVariation 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
Cone-Rod Dystrophies
CUI: C4085590
Disease: Cone-Rod Dystrophies
0.020 GeneticVariation BEFREE A recent study describes homozygosity for p.Arg106ProPOC1B in a family with nonsyndromic cone-rod dystrophy. 25044745 2014
Rod-Cone Dystrophy
CUI: C4551714
Disease: Rod-Cone Dystrophy
0.020 GeneticVariation BEFREE A recent study describes homozygosity for p.Arg106ProPOC1B in a family with nonsyndromic cone-rod dystrophy. 25044745 2014
Cone-Rod Dystrophy 2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
0.020 GeneticVariation 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
Cone-Rod Dystrophy 2
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
0.020 GeneticVariation BEFREE A recent study describes homozygosity for p.Arg106ProPOC1B in a family with nonsyndromic cone-rod dystrophy. 25044745 2014
Cone Dystrophy
CUI: C0730290
Disease: Cone Dystrophy
0.010 GeneticVariation 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