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 |