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RetNet specifications


Unique identifier OMICS_05804
Name RetNet
Alternative name Retinal Information Network
Restrictions to use None
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline Stephen P. Daiger

RetNet citations


Next generation sequencing reveals a novel NDP gene mutation in a Chinese family with Norrie disease

PMCID: 5700585
PMID: 29133643
DOI: 10.4103/ijo.IJO_442_17
call_split See protocol

[…] ction were performed combining total depth, quality score, MAF, potential deleterious effect, and the existence of mutation reports in common databases such as the Human Gene Mutation Database,[] the Retinal Information Network,[] ClinVar,[] or Online Mendelian Inheritance in Man[] to evaluate variant calling confidence. […]


Applying next generation sequencing with microdroplet PCR to determine the disease causing mutations in retinal dystrophies

PMCID: 5571584
PMID: 28838317
DOI: 10.1186/s12886-017-0549-5

[…] 3071 primer pairs were designed to target the 2078 coding exons of the184 RD genes (Additional file : Table S2). RD genes included in this study were previously associated with RD in the literature, RetNet database ( and the OMIM database [11] ( […]


Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

PMCID: 5397137
PMID: 28418496
DOI: 10.1167/iovs.17-21424
call_split See protocol

[…] One hundred eighty genes or loci associated with inherited retinal diseases were selected from RetNet ( and screened by homozygosity exclusion mapping (). Homozygosity genotyping of 188 microsatellite markers was done in one affected individual of each family. Loci h […]


Early Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black Footed Cats (Felis nigripes)

Sci Rep
PMCID: 5359545
PMID: 28322220
DOI: 10.1038/srep43918

[…] nt segregation with the autosomal recessive disease phenotype within the black-footed cat trio, and, (5) identifying variants in known retinal genes. A list of genes causing retinal diseases from the RetNet database ( was obtained and variants were visually investigated within those genes. Variants were prioritized by their effect on the protein using SNPeff (http://snpeff.sourcefor […]


Gene Augmentation Therapy for a Missense Substitution in the cGMP Binding Domain of Ovine CNGA3 Gene Restores Vision in Day Blind Sheep

PMCID: 5361581
PMID: 28282490
DOI: 10.1167/iovs.16-20986
call_split See protocol

[…] st Alignment Search Tool suite (mrsFAST-ultra-3.2.0;; in the public domain). These conserved sequences were obtained by aligning 242 human genes listed in the Retinal Information Network (; in the public domain) (RetNet) to the sheep genome (v3.1) using the UCSC genome browser and the Galaxy Web-based platform (https:// […]


The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families

PMCID: 5308768
PMID: 28192794
DOI: 10.1167/iovs.16-20281

[…] l differentiation and proliferation, as well as neuroectodermal cell-cell interaction (NDP, OMIM#300658). Mutations in NDP are known to cause X-linked exudative vitreoretinopathy.With the help of the RetNet panel and WES, we found NDP mutations in two families (NCRNA11 and NCRNA14). A novel homozygous 244-bp deletion in NDP, which starts from the end of the third exon, deleting 67-bp from exon thr […]


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