rs137853290
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs377029071
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs62638191
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs62638193
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
|
10617778 |
1999 |
rs62638193
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.
|
11078852 |
2000 |
rs62638193
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy.
|
15302662 |
2004 |
rs62638193
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
|
11053295 |
2000 |
rs62638193
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.
|
11675386 |
2001 |
rs62638193
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa.
|
15007239 |
2004 |
rs104893768
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs769035379
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs774122562
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus.
|
11470705 |
2001 |
rs774122562
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.
|
22669287 |
2012 |
rs774122562
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
|
21529959 |
2011 |
rs774122562
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.
|
20829743 |
2011 |
rs137853290
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens.
|
10102299 |
1999 |
rs137853290
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.
|
11453974 |
2001 |
rs137853290
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa.
|
9326942 |
1997 |
rs137853290
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.
|
11453974 |
2001 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus.
|
11078852 |
2000 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.
|
28418496 |
2017 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus.
|
10369264 |
1999 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus.
|
11675386 |
2001 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus.
|
10617778 |
1999 |
rs111033593
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels.
|
24603341 |
2014 |