Table 3.
Locus (HGCN ID) | RP Phenotype | Angiogenesis | Log2 FC 3 h_vs._0 h | Log2 FC 6 h_vs._0 h |
---|---|---|---|---|
AHR (348) | recessive | If depleted, enhances retinal angiogenesis [37] | −0.78173956 | −1.52949254 |
PROM1 (9454) | recessive with macular degeneration | Expressed on EPCS; promotes neovascularization [38] | not significant | |
MERTK (7027) | recessive | Promotes EC survival by inhibiting apoptosis [39] | not significant | |
RPE65 (10294) | recessive | Overexpressed in RPE cells surrounding CNV [40] | not determined | |
RHO (10012) | - dominant; - recessive |
If mutated, leads to retinal vessels atrophy following light exposure [41] | not significant | |
NR2E3 (7974) | - recessive in Portuguese Crypto Jews; - dominant |
Regulates retinal neovascularization by targeting FLT1 [42] | not significant | |
SEMA4A (10729) | dominant | In ECs, suppresses VEGF-mediated EC migration and proliferation by binding Plexin-D1 [43] | not significant | |
ROM1 (10254) | dominant | GO Biological process: retina vasculature development in camera-type eye (GO:0061298) | 1.256611685 | 1.123121917 |
PANK2 (15894) | recessive HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and palladial degeneration) | Required for normal development of angiogenetic properties in ECs [44] | not significant |