|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation |
CLINVAR |
Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.
|
29186038 |
2017 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation |
CLINVAR |
Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.
|
26355662 |
2016 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation |
CLINVAR |
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
|
26047050 |
2015 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation |
CLINVAR |
Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
|
26497376 |
2015 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation |
CLINVAR |
Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.
|
26306921 |
2015 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation |
CLINVAR |
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
|
24474277 |
2014 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
GeneticVariation |
CLINVAR |
Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.
|
24474277 |
2014 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation |
CLINVAR |
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
|
23847139 |
2013 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation |
CLINVAR |
RDH12 retinopathy: novel mutations and phenotypic description.
|
22065924 |
2011 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
GeneticVariation |
CLINVAR |
RDH12 retinopathy: novel mutations and phenotypic description.
|
22065924 |
2011 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation |
CLINVAR |
The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.
|
17389517 |
2007 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
GeneticVariation |
CLINVAR |
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
|
17964524 |
2007 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation |
CLINVAR |
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
|
16269441 |
2005 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
GeneticVariation |
CLINVAR |
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.
|
16269441 |
2005 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation |
CLINVAR |
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
|
15322982 |
2004 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
LEBER CONGENITAL AMAUROSIS 13
|
0.710 |
CausalMutation |
CLINVAR |
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
|
15258582 |
2004 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
Retinitis Pigmentosa
|
0.660 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
Retinitis Pigmentosa
|
0.660 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
Leber Congenital Amaurosis
|
0.500 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
Leber Congenital Amaurosis
|
0.500 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
Retinal Dystrophies
|
0.460 |
CausalMutation |
CLINVAR |
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
|
15258582 |
2004 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
Retinal Dystrophies
|
0.460 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
Cone-Rod Dystrophies
|
0.120 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
Abnormality of the eye
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.
|
15258582 |
2004 |
|
| Entrez Id: |
145226 |
| Gene Symbol: |
RDH12 |
RDH12
|
RETINITIS PIGMENTOSA 53
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|