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
|
|
0.800 |
CausalMutation
|
CLINVAR |
Novel recessive cone-rod dystrophy caused by POC1B mutation.
|
24945461 |
2014 |
CONE-ROD DYSTROPHY 20
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation of POC1B in a severe syndromic retinal ciliopathy.
|
25044745 |
2014 |
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
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutation of POC1B in a severe syndromic retinal ciliopathy.
|
25044745 |
2014 |
CONE-ROD DYSTROPHY 20
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel recessive cone-rod dystrophy caused by POC1B mutation.
|
24945461 |
2014 |
Microcephaly (physical finding)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel recessive cone-rod dystrophy caused by POC1B mutation.
|
24945461 |
2014 |
Retinal Dystrophies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation of POC1B in a severe syndromic retinal ciliopathy.
|
25044745 |
2014 |
Congenital heart disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation of POC1B in a severe syndromic retinal ciliopathy.
|
25044745 |
2014 |
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)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
|
25018096 |
2014 |
Hepatic Fibrosis, Congenital
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation of POC1B in a severe syndromic retinal ciliopathy.
|
25044745 |
2014 |
Microcephaly (physical finding)
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation of POC1B in a severe syndromic retinal ciliopathy.
|
25044745 |
2014 |
Congenital heart disease
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel recessive cone-rod dystrophy caused by POC1B mutation.
|
24945461 |
2014 |
Retinal Dystrophies
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel recessive cone-rod dystrophy caused by POC1B mutation.
|
24945461 |
2014 |
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
|
|
0.700 |
CausalMutation
|
CLINVAR |
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
|
25018096 |
2014 |
Hepatic Fibrosis, Congenital
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel recessive cone-rod dystrophy caused by POC1B mutation.
|
24945461 |
2014 |
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
0.020 |
GeneticVariation
|
BEFREE |
A recent study describes homozygosity for p.Arg106ProPOC1B in a family with nonsyndromic cone-rod dystrophy.
|
25044745 |
2014 |
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 |