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Table 4 Literature support for genes predicted by DIGNiFI+SimBio

From: DIGNiFI: Discovering causative genes for orphan diseases using protein-protein interaction networks

Disease Gene PMIDs Comments
Retinitis pigmentosa GNAT1 26472407 The first report of homozygous loss-of-function GNAT1 mutations leading to RP.
Retinitis pigmentosa RBP4 23189188 Report of an association between the gene RBP4 and a form of early onset, progressive, autosomal recessive retinitis pigmentosa
Retinitis pigmentosa MKKS 26900326 This gene is typically associated with Bardet-Biedl syndrome (BBS), but this report identifies a case of a MKKS mutation resulting in RP in the absence of any other typical features of BBS except polydactyly
Usher syndrome type 1 MYO3A 19390476 This gene is known to cause deafness, which is a distinguishing feature of Usher syndrome
Usher syndrome type 1 MYO15A 25404053 This gene is integrated in the ‘Usher interactome’, and although mutations of this gene have not been shown to lead to retinal dysfunction, they have been shown to cause hearing loss.
Leber congenital amaurosis BBS4 22219648 Report of a novel variant of this gene causing LCA
Leber congenital amaurosis RPGR 24981858, 20090203 RPGR is a receptor for RPGRIP1, and RPGRIP1 is known to associate with LCA
Leber congenital amaurosis GNAT1 19672311 GNAT1 is a transducer molecule that leads to Bcl-2-mediated apoptosis of neurons in the presence of mutated RPE65
Leber congenital amaurosis USH2A 18826961 This article discusses how USH2A is linked to LCA through the gene NINL (in the article, NINL is referred to as NLP).
Congenital stationary night blindness RPE65 25307992 Review article that contains a table listing RPE65 as a known causative gene for CSNB