Figure 2.
Frequencies with which different genes were found to harbour disease-causing mutations in the Target 5000 study in Ireland (Carrigan et al. 2016), counted as number of independent pedigrees. Genes that were observed less than four times, could not be cleanly visually represented, and so are listed below.
Three observations: ADGRV1, CERKL, CRX, EYS, KLHL7
Two observations: CNGB3, CRB1, NRL, PROM1, PRPF8, RP2, SNRNP200, TRPM1
One observation: ABCC6, ABHD12, AIPL1, BBS10, BBS4, BBS9, C2ORF71, CDH23, CLRN1, CNGA1, ELOVL4, EMC1, FZD4, GNAT1, GUCY2D, HK1, HMCN1, IFT140, IMPDH1, IQCB1, LCA5, MFN2, MFRP, NMNAT1, NYX, OAT, PDE6A, PRPF31, RDH5, SDCCAG8, SLC24A1.