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Retinal dystrophy
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
RPGR
PRPH
PRPH2
SAG
PROM1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
sensory perception of light stimulus
photoreceptor cell cilium
9+0 non-motile cilium
detection of light stimulus
MODULE_287
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Curated Studies
Most Correlated Studies
Single retinal Muller glial cells from rd1 & rhodopsin knockout mouse models of retinitis pigmentosa
Retinal pigment epithelia (iPSC derived) from patients with retinitis pigmentosa
Retinas of dogs with CNGB3-D262N mutation induced achromatopsic treated with intravitreal CNTF
Mouse Phenotypes - Congenital disorder
Mouse Phenotypes - Hereditary macular dystrophy
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Literature
Most Relevant Literature
Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.
Prevalence and diagnostic spectrum of generalized retinal dystrophy in Danish children.
The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.
Evaluation of autosomal dominant retinal dystrophy genes in an unaffected cohort suggests rare or pr…
Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.
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Clinical Trials
Most Relevant Clinical Trials
Establishment of the National Registry for Inherited Retinal Dystrophy in Iran
Gene Therapy in Subjects With Biallelic RPE65 Mutation-associated Retinal Dystrophy
Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrop…
Natural History of PRPF31 Mutation-Associated Retinal Dystrophy
iPS Cells of Patients for Models of Retinal Dystrophies
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