| PS268000 | RETINITIS PIGMENTOSA | ClinVar | link to OMIM | 69 | MAK, PDE6A, MERTK, FSCN2, DHDDS, RP9, CNGA1, CRB1, SLC7A14, BEST1, CERKL, PRPF3, C8orf37, PROM1, TOPORS, PRPH2, SNRNP200, IMPG2, PDE6B, PRPF4, RGR, IFT172, TTC8, GUCA1B, CDHR1, RDH12, PANK2, RHO, BBS2, PDE6G, RP1L1, NEK2, USH2A, ZNF408, LRAT, C2orf71, MYO7A, KLHL7, IMPDH1, ZNF513, RP1, NR2E3, ROM1, CYGB, ARL6, IDH3B, NRL, RPGR, RP2, PRCD, HGSNAT, TULP1, CNGB1, KIZ, EYS, OFD1, PRPF8, PRPF6, FAM161A, RBP3, IFT140, RPE65, ABCA4, CLRN1, PRPF31, SAG, CA4, CRX, SEMA4A |
| PS276900 | USHER SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 12 | WHRN, PCDH15, USH1G, PDZD7, CLRN1, MYO7A, USH1C, ADGRV1, CDH23, CIB2, USH2A, HARS |
| PS220290 | DEAFNESS, AUTOSOMAL RECESSIVE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 60 | CLIC5, KARS, GJB2, CABP2, HGF, DFNB59, GIPC3, MET, EPS8, MYO3A, MARVELD2, CDH23, OTOF, ELMOD3, ESRRB, RDX, LRTOMT, GJB3, ESPN, ADCY1, CIB2, STRC, TMIE, S1PR2, FAM65B, TSPEAR, TBC1D24, SLC26A4, OTOG, COL11A2, TPRN, PNPT1, MYO15A, WHRN, CLDN14, MYO7A, GJB6, DCDC2, OTOGL, SLC26A5, TMC1, MYO6, ILDR1, MSRB3, SERPINB6, ATP2B2, LHFPL5, SYNE4, GRXCR2, FOXI1, GRXCR1, LOXHD1, TECTA, PCDH15, TRIOBP, USH1C, KCNJ10, PTPRQ, TMPRSS3, OTOA |
| PS124900 | DEAFNESS, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 33 | GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, MYH9, MYH14, TNC, GRHL2 |