|
| Entrez Id: |
5959 |
| Gene Symbol: |
RDH5 |
RDH5
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
5959 |
| Gene Symbol: |
RDH5 |
RDH5
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5959 |
| Gene Symbol: |
RDH5 |
RDH5
|
0.800 |
GeneticVariation
|
disease |
ORPHANET |
|
|
|
|
| Entrez Id: |
5959 |
| Gene Symbol: |
RDH5 |
RDH5
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
6017 |
| Gene Symbol: |
RLBP1 |
RLBP1
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
6017 |
| Gene Symbol: |
RLBP1 |
RLBP1
|
0.730 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6017 |
| Gene Symbol: |
RLBP1 |
RLBP1
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
6017 |
| Gene Symbol: |
RLBP1 |
RLBP1
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
6010 |
| Gene Symbol: |
RHO |
RHO
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
6010 |
| Gene Symbol: |
RHO |
RHO
|
0.710 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6010 |
| Gene Symbol: |
RHO |
RHO
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
6010 |
| Gene Symbol: |
RHO |
RHO
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
5961 |
| Gene Symbol: |
PRPH2 |
PRPH2
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5961 |
| Gene Symbol: |
PRPH2 |
PRPH2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
5961 |
| Gene Symbol: |
PRPH2 |
PRPH2
|
0.700 |
GeneticVariation
|
disease |
ORPHANET |
|
|
|
|
| Entrez Id: |
5961 |
| Gene Symbol: |
PRPH2 |
PRPH2
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
5959 |
| Gene Symbol: |
RDH5 |
RDH5
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Fundus albipunctatus either with or without cone dystrophy is caused by mutations of the RDH5 gene.
|
11053295 |
2000 |
|
| Entrez Id: |
5959 |
| Gene Symbol: |
RDH5 |
RDH5
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Fundus albipunctatus either with or without cone dystrophy is caused by mutations of the RDH5 gene.
|
11053295 |
2000 |
|
| Entrez Id: |
6017 |
| Gene Symbol: |
RLBP1 |
RLBP1
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.
|
11453974 |
2001 |
|
| Entrez Id: |
6017 |
| Gene Symbol: |
RLBP1 |
RLBP1
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.
|
11453974 |
2001 |
|
| Entrez Id: |
5959 |
| Gene Symbol: |
RDH5 |
RDH5
|
0.800 |
Biomarker
|
disease |
BEFREE |
RDH5 retinopathy (fundus albipunctatus) with preserved rod function.
|
25170858 |
2015 |
|
| Entrez Id: |
5959 |
| Gene Symbol: |
RDH5 |
RDH5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A homozygous1085delC/insGAAG mutation in the RDH5 gene produces fundus albipunctatus in Japanese patients.
|
10845614 |
2000 |
|
| Entrez Id: |
5959 |
| Gene Symbol: |
RDH5 |
RDH5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.
|
12967826 |
2003 |
|
| Entrez Id: |
5959 |
| Gene Symbol: |
RDH5 |
RDH5
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.
|
12967826 |
2003 |
|
| Entrez Id: |
5959 |
| Gene Symbol: |
RDH5 |
RDH5
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A novel compound heterozygous missense mutation in the RDH5 gene was found in a patient with fundus albipunctatus.
|
11078852 |
2000 |