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Report for Clinical Trial NCT04123626

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene

This study evaluates the safety, tolerability and efficacy of QR-1123 injection in the eye (intravitreal; IVT) injections (one eye/unilateral) in subjects receiving a single dose or repeat doses. Single injections will be assessed in an open label way, and repeat injections will be assessed in a double-masked, randomized, sham-controlled fashion.

NCT04123626 Autosomal Dominant Retinitis Pigmentosa Eye Diseases Eye Diseases, Hereditary Retinal Dystrophies Retinal Disease Retinitis Vision Tunnel Vision Disorders
MeSH:Vision Disorders Retinitis Retinitis Pigmentosa Retinal Diseases Retinal Dystrophies Eye Diseases, Hereditary Genetic Diseases, Inborn Eye Diseases
HPO:Abnormal retinal morphology Abnormality of the eye Cone/cone-rod dystrophy Hemeralopia Metamorphopsia Pigmentary retinopathy Retinal dystrophy Retinopathy Rod-cone dystrophy Visual impairment

2 Interventions

Name: QR-1123

Description: unilateral IVT injection
Type: Drug
Group Labels: 5

QR-1123 Single dose - dose level 1 QR-1123 Single dose - dose level 2 QR-1123 Single dose - dose level 3 QR-1123 Single dose - dose level 4 Repeat dose cohort 1

Name: Sham procedure

Description: Sham procedures (i.e. no penetration of the globe) closely mimic the active injection and serve to mask subjects to treatment assignment
Type: Other
Group Labels: 1

Repeat dose cohort 1


Primary Outcomes

Description: Incidence and severity of ocular adverse events scored based on CTCAC in the study and fellow eye

Measure: Incidence and Severity of ocular AEs

Time: up to 12 months

Description: Incidence and severity of non-ocular adverse events scored based on CTCAC in the study and fellow eye

Measure: Incidence and Severity of non-ocular AEs

Time: up to 12 months

Secondary Outcomes

Description: Changes in Best corrected visual acuity (BCVA)

Measure: Changes in BCVA

Time: up to 12 months

Description: Changes in Low-luminance visual acuity (LLVA)

Measure: Changes in LLVA

Time: up to 12 months

Description: Changes in Dark adapted chromatic (DAC) perimetry

Measure: Changes in DAC perimetry

Time: up to 12 months

Description: Changes in Static VF (Visual Field)

Measure: Changes in Static VF

Time: up to 12 months

Description: Changes in Microperimetry

Measure: Changes in Microperimetry

Time: up to 12 months

Description: Changes in Spectral Domain-Optical Coherence Tomography

Measure: Changes in SD-OCT

Time: up to 12 months

Description: Changes in Full-field Stimulus Threshold (FST)

Measure: Changes in FST

Time: up to 12 months

Description: Changes in Full-field Electroretinogram (ERG)

Measure: Changes in Full-field ERG

Time: up to 12 months

Description: Changes in Fundus Autofluorescence (FAF)

Measure: Changes in FAF

Time: up to 12 months

Description: Changes in Contrast sensitivity

Measure: Changes in Contrast sensitivity

Time: up to 12 months

Description: Changes in Color vision

Measure: Changes in Color vision

Time: up to 12 months

Description: Serum levels of QR-1123

Measure: Assessment of systemic exposure after treatment with QR-1123

Time: up to 12 months

Purpose: Treatment

Allocation: Randomized

Sequential Assignment


There is one SNP

SNPs


1 P23H

A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene. --- P23H ---

A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene This study evaluates the safety, tolerability and efficacy of QR-1123 injection in the eye (intravitreal; IVT) injections (one eye/unilateral) in subjects receiving a single dose or repeat doses. --- P23H ---

4. A molecular diagnosis of autosomal dominant form of RP with the P23H mutation in the RHO gene, based on genetic analysis. --- P23H ---

Main Exclusion Criteria: 1. Presence of additional pathogenic mutations in genes (other than the P23H mutation in the RHO gene) associated with inherited retinal degenerative diseases or syndromes, based on genetic analysis (eg, Usher syndrome, Leber's congenital amaurosis, etc). --- P23H ---

Autosomal Dominant Retinitis Pigmentosa Eye Diseases Eye Diseases, Hereditary Retinal Dystrophies Retinal Disease Retinitis Vision Tunnel Vision Disorders Vision Disorders Retinitis Retinitis Pigmentosa Retinal Diseases Retinal Dystrophies Eye Diseases, Hereditary Genetic Diseases, Inborn Eye Diseases QR-1123 is an antisense oligonucleotide, designed to specifically target the mutant P23H messenger ribonucleic acid (mRNA) in order to reduce the expression of the P23H protein selectively, while preserving expression of the wild type (WT) rhodopsin (RHO) protein. --- P23H ---

Autosomal Dominant Retinitis Pigmentosa Eye Diseases Eye Diseases, Hereditary Retinal Dystrophies Retinal Disease Retinitis Vision Tunnel Vision Disorders Vision Disorders Retinitis Retinitis Pigmentosa Retinal Diseases Retinal Dystrophies Eye Diseases, Hereditary Genetic Diseases, Inborn Eye Diseases QR-1123 is an antisense oligonucleotide, designed to specifically target the mutant P23H messenger ribonucleic acid (mRNA) in order to reduce the expression of the P23H protein selectively, while preserving expression of the wild type (WT) rhodopsin (RHO) protein. --- P23H --- --- P23H ---

It is hypothesized that the reduction of mutant P23H mRNA will reduce the deleterious effects of the dominant-negative protein and should result in increased function of WT rhodopsin protein in photoreceptors. --- P23H ---

Restoration of WT RHO function is expected to improve vision in patients with adRP due to the P23H mutation. --- P23H ---



HPO Nodes


HPO:
HP:0000479: Abnormal retinal morphology
Genes 1446
SRD5A3 CACNA1F NDUFS7 CTC1 CSPP1 RP1 NAA10 PORCN TET2 SYNJ1 FBN2 COL1A1 COL2A1 PEX1 MLX COX3 PDZD7 B9D1 XYLT2 DNM2 KRT25 MITF KCNB1 PEX11B ZNF423 PDE6H TNFRSF11A NEU1 IFT172 PRRT2 ATF6 VPS33A TRNL1 RP1 CLN6 PROM1 C8ORF37 CHRDL1 OCRL KCNJ11 CERKL DAG1 TMEM98 GM2A DSE PDCD10 CABP4 PEX10 MYO5A GCDH SERPINC1 HADHA ROM1 MAFB ATP6 TACO1 HADHA ERAP1 PRPH2 RDH5 GGCX ND4L COL11A1 CHST14 CTSA TRNK RNU4ATAC REEP6 TBX1 FLNB PEX11B ABCA4 PRPF4 ND1 TUB RHO PGK1 BBS2 POMT2 PRPH2 INS PEX2 COL4A1 ABCA4 LIPH VPS13B HFE COX2 AP3D1 FASTKD2 HSPD1 MIR140 FKTN POMK TRAPPC9 PRPH2 NYX SDCCAG8 CEP164 USH2A SBDS SNRNP200 POMGNT2 PRPF6 RPE65 GUCA1A LRP5 SDHA CNGA1 NDUFS3 TUBB CLCN2 CNNM4 CP FGF3 ND3 ARHGEF18 ACOX1 SLC24A1 PRPF3 SLC7A14 MYOC VHL COX6B1 SMPD1 NDP RPGRIP1L DNM1 CBS CDHR1 PROM1 RPGRIP1 NDUFB8 LAMA1 ADAM9 COX7B FLCN CEP41 RPL10 MYO5A TMEM107 TMEM67 MEFV FOXC1 CAV1 GNAT2 BEST1 NCAPG2 INPP5E DGCR2 CRX TMEM216 HADHA SLC45A2 TRNS1 PTEN ELOVL4 NEK1 IMPG2 COL2A1 RPGRIP1 CENPF ERCC3 POMT1 HGSNAT SCAPER SEC24C TSC1 DHDDS AP5Z1 CDK4 B3GLCT POMT1 ERCC6 POC1B BBS12 ERCC2 ACVRL1 FBN1 HCN1 TMEM67 PDE6C NRL IFT122 ZNF469 TUBGCP6 SDHA SDHB AGXT GCK TMEM107 BBIP1 IFNG B9D2 HLA-DPA1 LMNA POMGNT1 PAX2 ACVRL1 LPL CNGA1 RS1 PNPLA6 COL5A2 GNAT1 IDUA KRIT1 NDUFA12 ECHS1 B4GAT1 BBS1 CFAP410 MITF NDUFV2 PAX6 MAN2B1 ERCC3 CWC27 LRP2 SZT2 ARHGEF18 CTNNB1 SDHD IFT140 SDCCAG8 C8ORF37 MMACHC CCDC22 CTNS FZD4 PEX5 LCA5 IFT172 IFT80 RERE PDE6G PRPF31 GRM6 NDUFS2 BEST1 SLC24A1 WDR19 LARGE1 MTTP ASXL1 NOD2 ELN SMPD1 HSD11B2 LRP5 YWHAG IFT140 ND5 NDUFAF6 SDHD PEX3 CHEK2 EXOSC3 SDHA PROM1 TREX1 SEMA4A PRPH2 PEX10 ARL6 RLBP1 UBA5 SMCHD1 ABCA4 HADHB HGSNAT SALL4 HK1 GBA TELO2 PEX26 TULP1 NUS1 KIF1B PEX12 ARL6 COL9A2 PMM2 REEP6 ARV1 DGCR6 RREB1 GGCX SLC19A3 RPGRIP1L LOXL3 C1QTNF5 GNAT2 WDPCP ERCC4 WRN VHL DEAF1 BCOR SAG PEX2 POMT2 LRP5 GUCA1A ND5 PANK2 SLC38A8 PEPD STXBP1 G6PC PEX26 HLA-DRB1 TUBGCP4 PAX6 COL2A1 NPHP1 WRN CLRN1 GUCY2D GP1BB CYFIP2 COL11A1 CDKN2B RPE65 SLC19A2 PCDH15 ABCC6 MAX TMEM231 FOXE3 PEX1 CLDN19 PRF1 PRTN3 TYR PGAP1 PIGL PROM1 GNB3 GMPPB GUCA1B STUB1 XYLT1 ARL3 TTC21B AKT1 ADAM9 AIPL1 C8ORF37 CEL NDUFA10 DGCR8 GABRA2 OFD1 TRNF MYO6 TMEM107 SALL4 ACTL6B TP53 COL2A1 CTSD NDUFS1 SEMA4A CDH23 TRAK1 SMPD1 CEP290 RAB18 CLTC CEP41 STAT3 BEST1 MKS1 LETM1 PEX6 RB1 LRAT IFT172 CYTB CEP290 CDHR1 NDUFAF3 RIMS1 PRPF6 TENM3 CC2D2A FKTN CFHR1 IQCB1 FRG1 PROM1 CACNA2D4 SCO2 RDH11 TXN2 KIF5A PEX2 BAP1 BEST1 KIF11 OCA2 ND4 CDH3 TACO1 NR2E3 KRT74 KIF1B ARL2BP NDUFA9 NDUFS2 POMGNT1 GSS TRNT1 VHL CEP290 KCNJ13 RPGRIP1 EPG5 PEX16 COL18A1 BBS4 IQCB1 TMEM98 RPGR IKBKG ABCC6 CC2D2A COX20 PRPH2 COL2A1 MC1R LARGE1 KIF11 PDX1 POU3F4 SDHA NPHP1 FAM161A SDHB PEX14 CHD7 AHR RRM2B PTCH1 CYP1B1 ELMO2 USH2A BBS9 RD3 MITF GUCY2D FOXRED1 GALNT3 SH2B1 GMPPB GABRB2 AP5Z1 CYSLTR2 WHRN COL2A1 NOD2 TRIM32 APOB SDHC POMGNT1 CLIP2 ERCC8 SLC19A2 PEX5 HSD11B2 DAG1 MGMT NPHP3 POMGNT1 MKKS COL4A1 KIAA1549 CP TMEM127 HLA-B SYCE1 PRPH2 GPR179 DACT1 FAM111A MC1R CEP120 NDUFB11 COL4A1 PRSS56 CEP290 GTF2E2 NMNAT1 TMEM127 RD3 UBAC2 HNF1A CSPP1 PAX6 BBS12 RLBP1 RPGR TSC2 RNASEH1 TMEM67 IDUA IL23R MTTP CHM GNA11 ND6 KCNA2 CNNM4 NEK2 PLK4 RMRP COL4A1 PEX7 CERKL CEP290 ADGRV1 NGLY1 NEU1 WDR60 TYR NDUFA13 POMT1 BCOR TTC8 ACD P3H2 MIR204 NSD2 GNAT1 BCOR RB1 GTF2H5 TARS1 TTLL5 ATP6V1A RET VHL GPR143 PEX10 RBP4 TMEM231 SDHAF1 BMP4 PEX6 CNGB1 CNGB3 TERT TRIM32 GDF6 SDHAF2 PEX14 PEX13 MPLKIP UNC119 MKS1 RNF216 ALDH1A3 ARL6 BBS2 TULP1 CLN5 OTX2 PPP3CA TRPM1 PPP2R3C PRPF31 BBIP1 OPN1LW FOXE3 PDHA1 CNGA3 B3GALNT2 ND5 TEK TTPA POMT1 FDXR LRP2 GTF2I CRB1 COL2A1 TRNW PEX1 KLHL7 LRAT SLC12A6 SAG SCN1A BCS1L CIB2 ARL13B KCNJ11 SYNGAP1 PRPH2 ADAMTS18 TREX1 ABCA4 CLRN1 TRAF3IP1 FGFR1 TRNH COL2A1 CRB1 KLHL7 ERCC1 MFSD8 ATXN7 PEX3 PDE6A PNPLA6 ALG12 SCO1 PROM1 CASK RAB28 ARL2BP PCYT1A HPS4 TBX1 ATP6 TFAP2A AP3B2 TYR HCCS TMEM231 INPP5E GZF1 TXN2 NPHP1 PRPH2 KRT71 APOE TTC8 PEX13 ATOH7 ND4 FLVCR1 TRAF3IP1 ARL3 RPE65 ISCA1 PDX1 OPN1LW APOE TTC8 TUBGCP4 AHI1 LYST RPGRIP1 SPATA7 BBS5 PCYT1A PEX6 WWOX FAS RBP3 COL9A3 TSPAN12 AHR PCDH15 NPHP4 COL11A1 FKRP SDHAF1 RET HADH TULP1 PEX16 VPS13B LTBP2 BBS5 RLBP1 ATP6 ND1 BLOC1S3 ATP6V0A2 TRNE MAPRE2 NSMCE2 PARS2 TTLL5 POMT2 RPGR PRCD LIPT1 WWOX COL2A1 NTRK2 PEX16 PIEZO2 USH1C HNF4A PITPNM3 KLF11 WDR19 SPG11 CEP290 OAT TMEM231 GNAQ EFEMP1 CHN1 SURF1 GDNF WDR34 SEMA3E ARL6IP6 ARMC9 CHM ZNF408 MFRP NECAP1 C8ORF37 WWOX COL11A1 TERT COL2A1 PEX5 GUCY2D SPATA7 BAP1 BBS10 HGSNAT ABCC8 PEX13 GGCX CYTB HLA-A TRIM44 APPL1 HEXB GDF3 PEX6 RPGR CTSA GUCA1A CRB1 FGF12 ACTB RRM2B NOTCH3 CYP4V2 PRSS56 TUBB4B MAK PRPH2 CACNA2D4 BEST1 COL9A1 IL12A MCOLN1 FSCN2 FAM111A ERCC6 CLCNKB ND4 CRX KCNV2 DPM1 BBS2 CRB1 ROM1 LARGE1 PEX12 ENG ESS2 IDUA RP9 RNU4ATAC FGFR2 SACS CA4 MSTO1 TRNL1 KCNA2 RP9 GPIHBP1 WT1 RBP4 IL12A-AS1 ATF6 HADHA NELFA HSD17B10 SURF1 CABP4 TINF2 PEX19 FTL MKS1 GUCA1A COX10 PEX2 C12ORF57 MFRP APC GPR179 TUB RAB28 VCAN POMK IDH3B LOXL1 CSPP1 WDR19 AKT1 PAX6 ACO2 ZFYVE26 ERCC5 NDE1 ABHD12 CRX PITPNM3 ITM2B CACNA1F SAG STN1 PTEN CEP78 ND2 TK2 UFD1 KIAA0586 FBLN5 IFT74 FLNB MERTK TMEM216 CACNA1A YAP1 PGK1 SOX10 CTNS IDH3B TRNQ NDP XRCC4 NDUFB11 KIZ PAX4 JMJD1C TPP1 OAT HMCN1 CHST6 RBP3 CC2D2A RPE65 COX8A C2CD3 AP3B2 ND6 GABRA5 CFI ATF6 PTPN22 ATP6 SDHD DUX4 ND5 RPGR RTTN ABCA4 FAS AMACR ALMS1 TSC1 NDUFS2 TMEM67 PRPH2 PIGL ALDH3A2 MCOLN1 PEX19 PRCD PORCN SEMA3E PCARE PRPF3 DHDDS COX7B PEX7 CACNA1F NF2 RPGR ZNF513 NEK1 CCND1 ARL6 VHL TULP1 BEST1 SLC52A2 SLC25A11 RDH12 CACNA1F DYNC2H1 GUCA1B PDE6B MKS1 SAG GRM6 CNGA3 ASAH1 ND1 STAT4 HACE1 CTNNB1 GRN C2CD3 ERCC5 DRAM2 FKRP COG1 PDE6C ND6 FSCN2 POMT1 PLOD1 FIBP ND2 RPS6KA3 SF3B1 CLRN1 COMT IMPDH1 FBN1 ATP6 MVK PRPS1 HADHB ALDH3A2 MTFMT NAA10 MKKS SELENOI POMK ROM1 PTEN PDE6B RNF113A GUCY2D BEST1 ND2 CDKN2A SLC24A5 TRNS1 RAB3GAP2 MAPKAPK3 COX1 NDP AHI1 RXYLT1 KCNJ13 CRYAB SUMF1 RGR SACS PAX6 PEX14 ND4 CAPN5 WARS2 C8ORF37 APOC2 NMNAT1 ZNF423 FKRP SDCCAG8 NHS CNKSR2 PCNA PTPN22 RAI1 TRIM37 ELN AIPL1 TERC COX10 COX15 DNAJC21 ARV1 ABCC8 EYS CNGB3 CNGB3 TERF2IP ACTA2 DHX38 PET100 PLK4 ABCA4 CCR1 FKRP USH1C ERCC2 PDZD7 PCARE DPP6 ATP1A2 AHI1 PDE6C TRNV RP2 RLBP1 IFT140 WASHC5 CACNA1A C8ORF37 GDF6 COX14 CDH3 PANK2 NYX AARS1 BMP4 PDE6D TRPM1 LRAT RFC2 ERCC3 CLDN19 PEX12 TMEM67 PUF60 TRNN NEK2 CDH3 NDUFV1 BCS1L CCNQ KRAS IDS CACNA1F ND6 OPN1MW CTLA4 CNGB3 POMT2 PET100 EP300 FKTN PPT1 BEST1 HLA-B IFT88 XYLT2 PEX3 COX15 TRNL1 GRK1 SDHD TRNW RHO RAX2 ARSG IFT140 TBX22 EPAS1 OPA1 MICOS13 DRAM2 CEP55 NDP PHYH LRAT PMM2 BBS7 HEXA BBS2 RDH12 ATXN7 HACE1 IQCB1 TNFRSF11B MYO7A IDH3A KLRC4 CFH SUMF1 BBS9 NDUFAF1 TAF2 PEX26 CST3 POMGNT1 RPGRIP1 RHO INSR CHD7 HBB ENPP1 PRDX1 WFS1 PEX16 MERTK RDH11 MAB21L1 B4GAT1 PROM1 COA8 IFT27 LIMK1 ZFYVE26 TBL2 PAX2 UBE3B LZTFL1 RPGR HPS5 PDE6A INS AIPL1 PDE6G CEP164 PRPF4 TEAD1 TRNT1 ARL6 SLC37A4 SLC1A2 IMPG2 PMPCA PEX1 CC2D2A CEP290 GATA3 RBP3 INPP5E KIZ MDH2 ATP8 PRPF8 TOPORS RB1 COX3 TOPORS RDH12 PCYT1A MAK KIAA0586 FKTN HPS6 COL9A2 LRP5 ADAMTSL1 RLBP1 SCAPER NDUFAF2 EXOSC2 USP45 RGR NSMCE2 ACTB TMCO1 GUCY2D MMACHC CRPPA PRPF8 HIRA POMT2 PEX7 RAI1 BBS10 LRIT3 USH2A TUBGCP6 SURF1 CEP83 SMCHD1 SIX6 SLC35A2 COL18A1 BBS1 TIMP3 ZNF408 SH3BP2 ATXN2 POLG EDN3 ELOVL4 OPN1MW KRIT1 OPN1MW POC1B NR2E3 LARGE1 WDR19 PEX10 TBC1D20 KLHL7 XYLT2 CTNS IGFBP7 IFT172 SEMA4A HLA-DPB1 CNGB1 TNFRSF11B SDCCAG8 ND1 SHH RAX2 DLST PDE6G GCK MDH2 TMEM138 SMAD4 PANK2 AGBL5 CFAP410 COL11A1 C4A CDH3 INVS RDH5 CRB1 POT1 INPP5E CA4 TRNK ERCC2 WDR19 SLC45A2 CRX EYS PEX2 RIMS1 TMEM67 PIK3CA TTC21B PDE6B PDE6H RPGRIP1L LRIT3 COQ2 CFHR3 IMPG1 PROS1 TUBB RP2 MSTO1 GNAT1 LPAR6 RAI1 TRNL1 EEF1A2 MKS1 FLII RHO NDUFA9 TMEM237 NDUFS4 SLC25A15 ANO10 OFD1 AIPL1 CLN3 OPN1LW ADAR CFAP410 CHST14 TCTN2 CACNA1B RHO PRDM5 CCDC28B BBS7 SDHB GRIN2D CEP290 TBX1 TLR4 NR2E3 IFT27 ZNF513 TINF2 NF2 NDUFAF5 IQSEC2 ATP6V1A PAX6 ZNF408 ANK1 IL10 RNF113A FKRP SAR1B PEX11B ETHE1 GDF2 ALMS1 RCBTB1 COA8 MFSD8 TSC2 CDHR1 IMPG2 MORC2 SALL4 PAX6 ETHE1 RHO NPHP4 CFH OFD1 DYNC2LI1 ARVCF ND4L CRPPA MAF COX3 IMPDH1 RNU4ATAC POLR3A RS1 CEP120 COL4A1 MPDZ BCOR IFT172 ABCA4 MYD88 COL5A1 JAG1 TYR MYOC HMX1 NDUFA4 RXYLT1 ASAH1 FH TTC8 PNPLA6 LZTFL1 HHAT GNAQ NRL GLB1 NDUFA2 CLRN1 PUF60 CNGA1 FLVCR1 BBS4 DHDDS PEX26 ZEB2 BAP1 AIRE TRNS2 MLXIPL CRB1 RNF216 USP45 KLHL7 SLC24A5 NMNAT1 LAMA1 PNPLA6 RAX2 IKBKG EDNRB SEMA4A COX1 POGZ GRK1 BLK NDP GABRG2 BAZ1B SNRNP200 PRPS1 FRG1 CACNA1F SLC25A15 IL12B MAX CYP1B1 SLC7A14 NEUROD1 PEX1 GNB5 CRX SCN8A PEX5 ABCC6 RAB3GAP1 NDUFS8 WDR34 SLC13A5 WDPCP ACTG1 POMGNT2 TMEM216 USH1G CACNA2D4 SLC52A3 ADAMTSL4 RP1L1 PRPH2 GDF3 SDHB PNPLA6 HCCS C12ORF57 APC TMEM138 CCM2 PLOD1 RET SDHA DHX38 SALL1 PDE6B PANK2 IMPDH1 IFT140 IMPG2 POGZ FZD4 B3GALNT2 SALL1 FAM161A SCN3A IMPG1 CTNNA1 GTF2IRD1 PEX12 SDHD CREBBP FBLN1 ATP6V1E1 PEX19 PEX1 GUCY2D PHYH GNPTAB
Protein Mutations 0
SNP 0
HP:0000478: Abnormality of the eye
Genes 5067
SMC1A FUS WHCR COL13A1 CTC1 FA2H ABCA12 NAA10 TET2 SYNJ1 NUP133 FBN2 FAM126A ST3GAL5 IGBP1 NAA10 WNT10B KRT25 FAR1 CRYBA4 C12ORF65 PAH ZNF423 CHRND EXT2 NOD2 PRRT2 ABCC8 ZC3H14 ZNF469 SETD5 IGSF3 PSMD12 BCL10 PROM1 C8ORF37 TUBB3 FGF17 HESX1 CCDC141 PACS1 EEF2 TMEM98 KCNJ2 MYO5A GCDH ADGRG6 HADHA MAFB KIF7 B3GALNT2 RECQL4 ATP6 MAP2K1 CDH23 PTCH2 ERAP1 CLTCL1 POLG GATA4 CYB5R3 PRPH2 NDST1 GGCX NDUFV1 ND4L CSF1R IL17RA TGFB3 KCTD1 TUB PRMT7 CCDC88A NDUFS1 MBTPS2 PRKCG ABCA4 FKRP VPS13B OPTN GSC WDR36 RAP1B EIF2AK3 EFEMP2 TRNS1 ACTA1 CCDC39 ROBO3 VAMP1 POMGNT2 PRPF6 GUCA1A SHOC2 SDHA CNGA1 MICU1 CHMP4B ACTG1 SMG9 PROK2 GNE SLC3A1 XRCC2 TEK LARP7 ARHGEF18 AGBL1 SLC29A3 EVC STAMBP PRPF3 CST6 NLRP1 CPLX1 SZT2 KDM5B BIN1 MLH1 FMR1 CLP1 POLG ERLIN2 TMEM67 COLEC11 CHRND TIMM8A FGFR3 CHRNE GNAT2 BEST1 RYR1 KCNMA1 SLC26A2 FGF10 H19 PTEN MPL UROC1 ELOVL4 RPGRIP1 MAPRE2 STAT3 FBN1 SSR4 SLC2A1 KRT6B FBN1 HGSNAT AP5Z1 CDK4 SDHC SYNE1 ZBTB18 HERC1 SLC9A6 PLA2G6 LDLRAP1 IGF1 BBS12 LDHD ERCC2 ACVRL1 THOC2 MFF ANKRD11 SQSTM1 PIGS CDK5RAP2 TEK WDR48 USP9X CIB2 GLRX5 TUBGCP6 FAM20C EZH2 HLA-DPA1 CHCHD10 PAX2 FLNA SNORD115-1 AP4E1 GCH1 TMEM240 PRPS1 P4HB ECHS1 BBS1 FOXE3 CFAP410 PAX6 GABRD COL6A3 MAN2B1 GRID2 ACSL4 FAR1 CWC27 FGFR1 PITX2 LAMC3 MVK PEX16 PROS1 CPLANE1 JAK2 STK36 C8ORF37 ASPA CCDC22 INSR SPG7 PDGFRB TSFM LCA5 SOX2 ALDH6A1 GATA1 ZBTB24 GJB1 GATA4 POR NDUFS2 HRAS TGFB3 WDR19 GLI3 TGFBI ASXL1 COL7A1 WDR73 HSD11B2 TBX1 ABCA1 IFT140 ITGB3 FGFR1 ND5 SDHD PEX3 COPB2 COL6A1 CNBP ATAD3A XRCC1 ERCC2 RPGRIP1L ABCA4 ADAT3 MAGEL2 DNAAF5 GBA CEP57 TULP1 FGF20 PEX12 COL1A2 FOXA2 EFNB1 ACOX2 DIAPH1 LOXL3 ERLIN2 STIM1 MTOR C1QTNF5 ALOX12B ERCC4 DEAF1 KBTBD13 NSUN2 NSDHL GUCA1A ND5 PANK2 HDAC8 CRYGD PEPD CNTN2 LEMD3 TRAPPC12 TGFB1 PEX26 CACNA1G SLC18A3 PIGA KCNJ6 VCP SLC17A5 COL12A1 ORAI1 GATA6 TKT COL11A1 ARHGAP31 KIFBP CIT SLC19A2 NSUN2 PROK2 PLXND1 MCIDAS PEX1 CLDN19 SRC PRF1 PHGDH PGAP1 SYT1 ALOXE3 SLC39A8 ALG3 AGRN PROM1 ANKRD11 GUCA1B ZFP57 SOST ARMC9 NDUFA10 TRNC MIF GABRA2 DNAJB13 CLCN7 SALL4 TRAPPC11 NDUFS1 TRAF3IP2 SLC18A2 ALDH18A1 FBN2 STAT4 ACTA1 CEP290 SOST SLC4A4 LETM1 SMC3 POLG TBCE ZBTB24 GLI2 PLCB4 COL4A5 PPP3CA DNMT1 TWIST2 TENM3 VAX1 SRCAP SHROOM4 TBX4 KIF11 OCA2 SETX TACO1 COL7A1 ELOVL4 KRT74 RNASEH2B SPAG1 ARL2BP NDUFA9 NDUFS2 ATXN2 TSEN15 GSS ZBTB20 MFN2 KCNJ13 RPGRIP1 SCN2A LMNA EPG5 PLPBP COL18A1 PEX10 IQCB1 FREM1 ASCL1 ZNHIT3 COX20 PRPH2 COL2A1 HUWE1 TRAPPC11 BPTF ARSA RBM10 ARX OCLN SLC52A3 SCN9A RRM2B FAM126A TPI1 CLPB GUCY2D TBX1 PIK3C2A STAT6 GALNT3 SLC35A1 SH2B1 C19ORF12 CHRNG HS6ST2 ARCN1 FGFR1 ATP1A2 ARNT2 COL2A1 TRIM32 SDHC POMGNT1 NDUFV1 HTRA2 SEC23B PYROXD1 SPRY4 SLC39A5 LYST SETD5 POMGNT1 WDR19 TUBB2B SIK1 CHP1 NRXN1 FGFR1 KIAA1549 GFM1 CNBP HLA-B ADAMTS10 TBCE NOTCH2 TUBA8 UNC80 DACT1 WDR4 FKBP10 MYO7A MC1R LMBR1 CBL C1QBP COL4A1 GAS1 MBTPS2 SOX10 GTF2E2 PLG NMNAT1 EIF2AK3 CASK GNAI3 TRAPPC11 CRYAB BMPR1A RD3 TPM2 GALC KDSR SLC25A19 CSPP1 BBS12 RPGR RNASEH1 TRIP13 CILK1 IL23R CHM ND6 SLC52A2 NEK2 FOXC2 ACTA1 CERKL FLNA ADNP MTAP FANCA WDR45B MSH6 TTBK2 NDUFA13 SAMD9 TGFBI POU6F2 PGAP1 TTC8 MIR204 TONSL NSD2 BRAF PIK3CA TTLL5 ATP6V1A CAMK2G GPR143 TRNP RBP4 SDHAF1 RBM8A AIMP1 HELLS RAF1 ATCAY NDN TERT KCNQ3 HESX1 TRIP13 UBR1 PEX13 ELOVL4 SMCHD1 CPAMD8 MYLK CDKL5 MKS1 RARS2 CRYGS NXN PPP2R3C PRPF31 MYORG MAF ALG1 MC1R B3GALNT2 ND5 ATP6V1E1 ARX LRP2 CD79B GJA1 GTF2I CRB1 PLOD3 PHOX2A RTN4IP1 TMEM237 SLC17A5 CIB2 SYNGAP1 PRPH2 ADAMTS18 GUSB TRAF3IP1 SLX4 TNFRSF13B CRB1 KLHL7 ADAR KCNN3 DKC1 KIAA0556 CRBN TCOF1 ALG12 APOE SCO1 PTH1R PROM1 SLC26A2 CR2 VPS11 INPP5E SRCAP KIDINS220 PNPT1 HELLS ATXN3 TXN2 SMAD3 WDR26 APOE AK9 FANCI IFT122 STT3B ATOH7 KIF1A MUTYH TRAF3IP1 TRIO LAMA2 MMP1 CEP152 LRP4 TTC8 FTL DHX30 TUBGCP4 KIF5A SCN4A FIG4 LRRC8A WWOX RBP3 COL9A3 UGT1A1 FKRP GPC3 RET TPM3 XYLT1 PEX16 LTBP2 ATP6 PLCG2 CHRNA1 OSGEP COL1A2 TRNE MAPRE2 LRRC6 TTLL5 DICER1 CTU2 OTX2 DDHD2 HYLS1 HRAS SLC25A4 ARL3 NLRP3 NONO TELO2 APOB NUP107 MLH3 OPA3 OAT TMEM231 EFEMP1 AHI1 CHN1 CLPB GDNF TRPV4 GBA MYOD1 ARL6IP6 RERE SLC36A2 ACER3 TERT LAGE3 SPTBN4 ERCC6 ARSG COL2A1 LMNA RYR1 BBS10 HGSNAT SLC20A2 ATRX NXN NOTCH3 PLEC CYTB HLA-A WWOX HTT MFRP RPGR TAZ CRB1 ALX3 TUBB4B CACNA2D4 BEST1 SLC25A1 FSCN2 GABRD LDLR ND4 MYO18B ERCC6 COX3 ROM1 RNU12 SIX3 FMR1 ATIC MKS1 EDN3 CTSH TBK1 SLC6A9 FLNA RAF1 WT1 C12ORF65 EXOC6B ATF6 RIPK4 HSD17B10 FTL GNAS ANKH SARDH DOK7 TCF4 C12ORF57 SLC39A13 MFRP MMP19 GPR179 CYTB POMK DNAI1 TAC3 SMARCA4 TWIST1 AKT1 RSPH3 GFER NAB2 SH3TC2 ABHD12 FAM149B1 ITM2B CACNA1F ARL3 C12ORF65 CDKN1C SAG GDAP2 RYR1 GRM1 KIAA0586 FGF8 RIT1 PHIP ARID2 GDF3 ADRA2B MERTK HNRNPA2B1 UCHL1 CACNA1A PHF6 DIS3L2 SOX10 IQSEC2 PGAP3 CTNS RSPRY1 LMNA NDP LONP1 PAX4 COL7A1 FGFR2 VPS35 TRIM8 DPYD CC2D2A TWIST2 KCNA1 SLITRK6 EGR2 ND6 CFI ATXN3 KCNJ18 FANCE SDHD EPHA2 DUX4 LRP5 ACO2 ALX4 MKS1 AMACR TWIST1 PEX26 TSC1 BCL11A KRT17 NDUFS2 ABCA1 MYO5A HDAC8 TMEM38B NAGA ARID1A SMCHD1 DHDDS TYRP1 COX7B PEX7 NF2 KCNC3 TFAP2B KRT10 DDX59 ARL6 OPN1LW BEST1 FGFR2 RDH12 BIRC3 WDR73 PDE6B GLB1 CNGA3 GRIA3 NAXD TGM6 GLA SPEG TUBA3D YARS2 SHOC2 ND6 PHGDH GBA AKT1 SKI SLC5A7 COMT ATP6 MVK ATXN8 NT5C2 NAA10 MKKS ANKH WAS NFKB2 SELENOI ROM1 SOX10 PTEN TGFBR2 POMT1 MMP14 FGFR2 POLG PIGY ND2 RAB3GAP2 DDOST COX1 ALG8 ANGPTL6 DHPS REST RXYLT1 SACS MAFB MOCS2 ND4 ZC4H2 PCNA SDHD TMEM126A GAS2L2 NMNAT1 ZNF423 MED25 SLC2A1 TRNQ CNKSR2 FANCB CDK13 GJB6 TGFB1 PAX6 RPS6KA3 USF3 MMUT TSEN34 CRYBB2 ARV1 OPA1 H19-ICR PLEKHG2 L1CAM ADGRG1 FLRT1 EPHX2 DHX38 PET100 PLK4 TCTN2 ABCA4 MTMR14 SCN9A EMC1 MPDU1 GATA5 TMEM237 USH1C ERCC2 PDZD7 PCARE DPP6 ERCC5 IL2RB DMPK RLBP1 IFT140 WASHC5 SLC18A3 GDF6 CDH3 AARS1 TREX1 PMPCB GTPBP3 MUSK GSN TMEM67 TERC CHMP1A TRNN MME NDUFV1 PTPN11 CTNND1 SMARCB1 GJB2 SEM1 MYL2 CACNA1F CTLA4 RARB ALDH18A1 HLA-DQB1 IFIH1 SLC25A22 PPT1 HLA-B IFT88 SCN4A LSS ZNF335 SDHD NEDD4L ARID1A ARSG IFT140 TWIST1 EPAS1 SPECC1L DRAM2 NDP PHYH GALT BBS7 HEXA PUM1 ACTA1 RDH12 SUFU ABCD4 IRF2BPL FOXE3 IDUA CLCN7 GDF1 MYO7A IDH3A EFNB1 PIGT LMNA JAG1 PRMT7 FGFR3 ELN RHO CLN8 INSR SLC12A3 PRDX1 MIP ST3GAL3 PROM1 BRAT1 FBN1 LIMK1 SNCA PAX2 RPGR ND5 WDR19 CEP164 TRNT1 ARL6 NADK2 TRNF TGIF1 LRP4 NPHP1 TSHR INPP5E KIZ RGS9 CDC45 ERCC1 MEIS2 CPLANE1 PCDH12 CYP7B1 COX3 TOPORS ALG11 ST14 ATXN10 FKTN ITPR1 PRKAR1A MMP1 ADAMTSL1 ALG3 ATP7B RGR PNKD TGFBR1 OFD1 TMCO1 HIRA REV3L CHRND LRIT3 CEP250 KCNA4 GLE1 SLC35A2 KIF7 SYNE1 HARS1 KMT2D ATXN2 POLG EDN3 RAD50 KRAS CHD4 OPN1MW ANTXR1 POC1B PLA2G6 LARGE1 EIF2B2 GHR AHDC1 MED23 XYLT2 WDR45 CTNS BMPER GJA5 SLC30A9 SDCCAG8 AUTS2 ELN RLIM PANK2 FGFR3 LEMD2 UBA5 FGFR1 IL11RA ZFHX2 POLR1C SIK3 AGL PLK4 WDR19 PBX1 SCN3A SLC45A2 PEX2 WDR81 DNMT3B PIK3CA TTC21B LRIT3 PTDSS1 ITGA7 COQ2 DNM1L MPZ HNRNPU BTK LPAR6 TMEM106B KIAA0753 TBX2 NDUFA9 MAT2A OFD1 SOS2 KRT6A CCDC174 CACNA1H TBC1D7 RRAS2 ADAR CFAP410 COL3A1 RHO BRF1 FGFR1 OSMR CYTB NR2E3 DEGS1 GJB2 PAX1 PIK3R1 SLC45A1 GPRASP2 LRP1 GJB6 GATA6 CD247 CANT1 FKRP ETHE1 TREM2 TLK2 PMS2 RCBTB1 SOX10 PIGV EIF2B1 TSC2 ATR MORC2 LETM1 PAX6 NDUFS4 ETHE1 TGM3 NPHP4 CFH DYNC2LI1 TP53 SNAP29 RAD51C MYMK NTRK1 FBXO31 VPS13D P4HTM CEP120 KLHL41 FH SOS2 BCOR FAM111A MYD88 STIM1 JAG1 HMX1 TMEM70 APOE IFT81 DAB1 SCN9A PNPLA6 MRE11 GNAQ CDH11 NRL NSD1 HPS3 NDUFA2 GATA2 EPS15L1 FLVCR1 BBS4 PLEKHM1 BAP1 CFAP221 B3GALT6 PABPN1 COL13A1 NEB EARS2 USP45 AP1S1 PWAR1 SCN9A DNM2 YEATS2 RAX2 ATCAY ADK KCNQ1OT1 POGZ TACSTD2 PAX6 FRG1 CACNA1F TPRKB GPR161 MICU1 SLC29A3 NDUFV2 GNB5 ABCC6 SETBP1 NDUFS8 KRAS OPHN1 ADAMTSL4 PAX6 SPTBN2 NOP10 MSH2 FBN1 NEXMIF PDP1 TMEM138 CCM2 LTBP2 SDHA MBTPS2 SYT2 HNRNPK SCN1A EDNRB TWIST2 FZD4 CRYGD B3GALNT2 FOXP1 SYT1 GRIN2D FTL FLNA NF2 MYH3 BMP2 FOXC1 CISD2 SMAD4 WDR11 RUBCN PCDH15 ATP1A3 SMS GNAQ SDHD CREBBP FBLN1 IFIH1 ETFB PEX19 GUCY2D PHYH IFT52 SRD5A3 CACNA1F IFT52 KIAA0586 EPG5 CSPP1 SARS1 TRAF3IP2 PORCN FMN2 ERCC4 TGFB2 PYCR2 GJA8 ENTPD1 PEX1 KCTD1 PTH MLX COX3 B9D1 SLC12A6 TCTN3 CENPJ INSR MAP2K2 SKIV2L NKX3-2 TTC37 MITF IARS2 POLG KCNB1 SPART BRAF SCN4A PEX11B PDE6H DOCK6 SHH VPS33A TTBK2 TRNL1 PNPO TINF2 CERKL PIKFYVE ALG6 DAG1 TRAPPC6B EBP TCTN3 GM2A PDCD10 DNMT3A ROM1 GBA AIP ALKBH8 NEFL TACO1 AGA RPS20 BMPR1A ACVR1 NDUFB11 MTRR RNU4ATAC LCAT FLNB NR2F1 SLC19A3 PEX11B B2M ND1 MAP2K2 DOCK6 PIK3CA NFIX BBS2 POMT2 ELP1 SETD2 INS MEN1 COL4A1 LIPH HFE FASTKD2 GCH1 FGFR3 BRCA1 SNAP25 ZIC1 COL9A1 TRAPPC9 POLR1C RPE65 ATXN3 PDX1 VSX2 OTX2 PPIB FGF3 PDSS1 NDUFA11 RGS9BP MTM1 TBC1D23 TSHR MARS2 HLA-DQB1 TUBB SLC24A1 COG8 ND1 SLC7A14 BCL11B NDP GJB1 FCSK RPGRIP1L CC2D1A WDR60 ATP5F1A CDHR1 SNAI2 LMX1B MYOC MAF LAMA1 NSD1 FLCN DLX6 ADAM22 TBR1 IPW DARS2 TMEM107 INS MEFV TRNK NCAPG2 CCBE1 TMEM216 AVP CA2 WASHC4 RAG1 PIK3R2 MITF NEK1 FGFR1 COL2A1 PEX7 PDGFRB TRNS2 FBN1 CENPF ERCC3 POMT1 POLG2 SCAPER SEC24C RAB3GAP2 NUP62 ALG13 MPDU1 APOA1 B3GLCT NF1 NF1 LTBP2 AGK MPC1 POLG LRP4 ADAMTS3 KRT16 POC1B NDRG1 KCNH1 FANCC PDE6C GJA1 CACNB4 ZNF469 TNFSF11 SDHA SDHB RYR1 SDHB TMEM107 BBIP1 SUOX POMGNT1 PHACTR1 CNGA1 RS1 PNPLA6 NDUFA12 MED25 CHST3 LTBP4 TGFBI EDNRA FGFR1 MTRR CRADD B3GALT6 PEX14 COQ2 SZT2 ARHGEF18 CDKL5 GNAS VPS13A PDZD7 PTPN11 TREM2 SLC1A4 DISP1 AGK LMOD3 TAP1 IFT172 MAP2K1 SMARCE1 STIM1 MAN1B1 PDE6G FIG4 BEST1 PSMB4 NOD2 ELN LRP5 GHR YWHAG PTEN WNT5A RPS7 CHEK2 PROM1 PIGP PSMD12 PEX10 FGFR2 RLBP1 DNAJC6 HMGB3 HADHB SALL4 FGF17 TELO2 TTC25 MFN2 DCC KIF1B RAB27A KIAA0586 ARL6 CASK SLC2A10 REEP6 ARV1 AFG3L2 RREB1 CTDP1 TWNK PSAT1 PURA RAF1 AIFM1 GNAT2 FANCC GCK WDR81 SYNJ1 SLC33A1 KLLN POMT2 LRP5 DDX3X RAI1 POLH SCN8A TUBGCP4 COL2A1 TOE1 SERAC1 LMAN2L GFER WRN FRMD4A ABHD5 GP1BB CYFIP2 KRAS CDKN2B CA2 CHRNB1 RPE65 PCDH15 COG5 PTPN2 POLA1 ND6 AHDC1 GJC2 TMEM231 ZEB1 HYLS1 PALB2 UBR1 C1R PRTN3 TYR GNRHR PREPL ATP7B GNRH1 FGFR2 TTC21B ENG CHAT CD109 C8ORF37 RSRC1 CRYBB2 DPAGT1 OFD1 TP63 TMEM107 ALX4 PRSS12 COL3A1 CTSD SEMA4A PTEN SMPD1 TPP1 MITF WDR35 CHD7 RAB18 PRDM16 ATXN10 CEP41 FLI1 CRPPA L2HGDH STAT3 CALR ATP6V0A2 ITCH GABRA1 PEX6 SEC24D PIK3R2 RIMS1 PRPF6 IFT43 IL1RAPL1 SYT14 GPT2 CC2D2A AFG3L2 ADD3 CACNA2D4 SCO2 PDXK KIF5A PEX2 FGFR2 BAP1 FRMD7 PSAP USP8 SLC29A3 GABRG2 HLA-DRB1 CRYGC MTR SCN8A B4GALNT1 TRNT1 GATA4 EPRS1 CHRNG SMARCAL1 SC5D SLC39A13 LCA5 BBS4 RERE NDUFS4 RPGR NDUFA1 MC1R EIF2S3 GSN FANCL GGT1 SDHB HSPD1 ATRX FUCA1 WFS1 DDOST ELMO2 CRTAP SERPING1 NSD2 SLC2A1 BFSP1 UBA1 GLRX5 FZD2 CYSLTR2 SMARCB1 RAP1A WDR11 KLF13 GBA2 PEX5 COLEC10 USB1 CACNA1A GFPT1 MKKS PSMB9 GRIK2 DARS2 NRXN1 ANOS1 OPA3 ABCB7 CHST3 KRAS MTMR14 ATP2B2 FANCI PRPH2 VSX2 CHRNA1 AP4S1 ATXN8 TOE1 POLG2 GLI2 PNPT1 TIMMDC1 GPKOW TRIT1 CEP120 PROKR2 MAP3K7 CNGA3 GTF2E2 RFT1 TCF12 NFIX USB1 TMEM67 ST3GAL5 KISS1R WDR35 COQ2 CEP290 SLC2A1 CCDC115 NGLY1 CCDC22 AGTPBP1 TRNQ KRT1 POMT1 HTT P3H2 SLC6A8 TGFB2 INTU RUNX2 RB1 MYH11 LIFR TNFSF11 BRIP1 TMEM231 PIGV SLC13A5 COL2A1 PROP1 GNAT2 PEX6 CHRNA7 PDSS2 TGIF1 CNGB3 AMMECR1 DPYD ANOS1 TRIM32 SDHAF2 GHR LRP12 SAMD9L HLA-DQB1 MGME1 APTX NACC1 RNF216 TYRP1 PREPL FANCD2 DOCK7 GNAS CYP24A1 BBS2 TULP1 OTX2 BBIP1 NHLRC2 TRIM44 FOXE3 ITGA8 POU1F1 CNGA3 AP4E1 TEK SEMA3A DCC TPRKB CRYGC TRNW PPP1CB PEX6 MYH2 SLC12A6 NGF SCN1A BCS1L TYR APC2 RSPH9 KMT2A ABCA4 PACS2 TRNH LMOD3 ATP6V1A ERCC1 ATXN7 COLEC10 PEX3 NLRC4 OXR1 RAB28 GPR35 TBX1 ATP6 TFAP2A HCCS NEB FLNB SLC6A19 HESX1 FBN1 FGF12 PIGT NPHP1 RAPSN KRT71 MEGF8 PEX13 ACTA2 ZNF644 ARL3 CAMK2A ISCA1 NLRP3 APOE TIMM8A NFIX AHI1 IL17F PCYT1A FAS TSPAN12 MRE11 NPHP4 FBN1 ATP6V1A LRP4 PROC HADH SOST RBBP8 TRAPPC2 BBS5 RLBP1 AIRE PDSS2 GTPBP3 COL2A1 RNF168 CERT1 NTRK2 GAS8 MYH8 PEX16 COL1A1 RUSC2 SOX3 USH1C TNIK MPV17 GALT SLC25A1 PITPNM3 KLF11 ALX4 WDR19 CEP290 CRKL SURF1 SALL2 MAB21L2 MYH11 USH1C LHX4 POLG ARSA DPM2 TBP NECAP1 C8ORF37 COL11A1 LAMA3 ARID1B NEK9 TARDBP PEX5 SOX5 SCARF2 CACNA1B PEX13 ESCO2 AMMECR1 CEP104 XPR1 IER3IP1 GUCA1A POMGNT1 LGI4 DDB2 EVC2 PRPH2 AHCY SOX10 IL12A LRRC56 FASLG ERCC6 PWRN1 STOX1 RYR1 MYH8 BUB1 BBS2 LARGE1 IGF1R PLAA DVL1 RP9 FGFR2 SCYL1 MYH7 SCN4A VPS13C HYDIN PSMB8 SLC2A10 IL12A-AS1 CDH1 WFS1 SURF1 GPC4 TINF2 BEAN1 EXOSC8 SUFU MKS1 GUCA1A COX10 PEX2 CEP120 GCNT2 HBA1 RAB28 VCAN NEB MTPAP KMT2A PEX3 RARS1 NEUROD2 WDR19 CYP1B1 SLC5A7 PTPN22 ZFYVE26 DCHS1 NDE1 DNMT3A PITPNM3 CERS3 SLC52A3 MOCS1 UFD1 ZBTB16 RARS1 C9ORF72 RNF135 PODXL MARS2 LRBA FBLN5 FLNB SATB2 FGFRL1 FGFR1 HGD SERPINI1 CSNK2A1 GORAB DHCR24 YAP1 CREB3L1 TPM3 SERPINH1 RBCK1 XRCC4 H1-4 TP53 IFNG HMCN1 PALB2 FAT4 MAN1B1 RPE65 TBCK C2CD3 PYCR1 TBCE WNT5A ATF6 IL2RA PTPN22 ATN1 ATP6 PRPS1 NSD1 NDUFS2 RTTN TK2 FAS ARSB DSG4 AAAS GJA8 CTNNB1 SETD5 ATP13A2 COX2 ALDH3A2 RUBCN COL11A2 PEX19 PRCD PORCN SEMA3E PITX3 TRNH EED FGF8 FREM2 COL1A1 ASXL2 CACNA1F EVC SLC25A4 CHN1 CHRNE SMARCB1 LCAT ZNF513 ASPA RPL5 GJA1 COL1A1 OCRL IDUA MMP2 ZMYND11 HBA2 MRAS SPECC1L ERCC4 METTL23 MKS1 PUS7 SAG GRM6 STAT4 GRN MAFB CSPP1 NRAS POMT1 BTD VARS2 SLC6A20 BTK AMACR GMNN ETFA ND2 RPS6KA3 SF3B1 SUFU RAC1 CLRN1 NAA10 CD19 TUBB3 CHRND SLC1A3 PAX6 RNR1 DLD DTNBP1 SUFU ASPA ANKLE2 GBA PDE6B GUCY2D LIFR TBCE FAT4 KDM5C LRP4 CLP1 SNCA DNAL1 TPM3 NUP88 ALG14 ATRX BTK KCNJ13 ABCC8 CRYAB PAX6 SLC9A7 UROS PTS PEX11B WNT10A SALL4 SDCCAG8 CDH1 CANT1 NHS NSUN2 ALPL LMNB1 ERCC5 PITX2 RSRC1 WAC ATP2B3 PPP2R5D COX10 CYBB ECEL1 JRK SMARCE1 PDGFB NDUFS1 NDUFAF2 FKRP CTNS KIF21A TBCE FOXRED1 BEAN1 EIF4G1 TAPT1 WRAP53 PANK2 DST TRPM1 SLC25A24 ELP4 LRAT RFC2 SMAD3 ERBB3 TUBB3 ERCC3 PHF6 SPINT2 PUF60 NEK2 CDH3 SYNE1 CCNQ ND6 PRKD1 TUBB6 CNGB3 MASP1 INPP5E POMT2 CCDC40 ADAMTS10 FKTN BEST1 XYLT2 PEX3 TRNL1 GNPTAB GNA11 TRNW RAX2 UBIAD1 TBX22 CTNND2 MICOS13 KRT83 SC5D LRAT PIK3R1 GJA3 SOST TNFRSF11B CFH TMEM237 SUMF1 GM2A PNPLA1 CST3 POMGNT1 MTOR KCNAB2 GUSB CHD7 BRAF ERMARD HBB ENPP1 POLG SF3B4 MAB21L1 ARID1B B4GAT1 ABCA12 PPM1D NLRP3 NAXE RIT1 HPS5 INS AIPL1 SHANK3 SLC37A4 CHRND CEP290 GJA1 ATP8 TAF1 SHPK SBF1 TOPORS DNM1L GJB3 WNT3 GNA14 STX16 OFD1 MICOS13 FGFR2 PIBF1 ESCO2 COL9A2 TCTN2 LRP5 RLBP1 SCAPER TKT ISCA2 USP45 NSMCE2 MPL TWNK MMACHC APC CRPPA HNRNPH2 ESPN SLC40A1 NCF2 DUSP6 RAI1 AFF4 GABRA1 GJC2 KREMEN1 TUBGCP6 SURF1 IBA57 FANCG TRIP4 BANF1 SIX6 BBS1 TIMP3 SH3BP2 NPHP1 CD79A POLR1D CHRND SIM1 TBCE BRIP1 RAB3GAP1 WT1 CACNA1A ELOVL4 KRIT1 ALG8 RAB3GAP2 NKX2-5 KCTD7 HGD BRAF DHCR7 BUB1B RSPH1 SEMA4A TNFRSF11B NSDHL ND1 AFG3L2 GCK ERCC2 STIM1 HSPG2 MDH2 BRPF1 TAF1 CCDC114 C12ORF65 C4A TRAPPC11 CRB1 POT1 INPP5E CA4 WDR45 TRNK NHLRC1 TTR GALNS RFC1 ABHD5 EYS RIMS1 SLC1A3 PDE6H ALG13 GNAS EHMT1 PROS1 MFAP5 GNAT1 NARS2 COQ8A KLHL41 MKS1 PRRX1 AP4B1 EDC3 FLII TMEM237 SPR TMEM43 SLC4A11 PRNP MED25 POLG CACNA1B LHX4 CCDC28B SCN1B PRNP FOXJ1 CEP290 TBX1 TLR4 SLC39A14 COG4 IFT27 PLP1 NF2 PLEC NDUFB10 NDUFAF5 COG4 ZSWIM6 VMA21 ZNF408 COL11A1 ITCH MCTP2 TCF20 CHRNE EIF2B5 NOTCH3 PRSS12 SAR1B TSC2 BRAT1 COA8 TFRC GEMIN4 NIPAL4 TCTN3 IMPG2 HSD17B4 ZNF148 ROBO1 MAPT RHO OFD1 PAX6 MARCHF6 EZH2 ARVCF ND4L CRPPA RORA TFAP2B PDGFRB RNU4ATAC POLR3A BTRC CDKL5 PCLO RS1 COL4A1 MPDZ SIX2 RNASEH2C TYMP TCF12 TBX1 COL5A1 TBX15 TYR MYOC IARS2 SEC23A RXYLT1 HHAT NLRP1 GJB6 PUF60 DHDDS BTNL2 TRNS2 HRAS HDAC4 KLHL7 SLC24A5 NMNAT1 RMRP PNPLA6 FGFR2 NLRP3 EDNRB SEMA4A PRKG1 TUBB2B GRK1 BLK MAG PRUNE1 RRM2B IFT80 CITED2 PSEN1 COL1A1 HNMT ELOVL1 CDH11 SLC25A15 NEUROD1 PHF21A CRX PINK1 PEX5 RAB3GAP1 ELOVL4 ARHGEF2 WDR34 FKBP14 SLC13A5 KLHL41 EXTL3 ZMPSTE24 KRAS CACNA2D4 SLC52A3 SPECC1L IQSEC1 JAK2 GDF3 HCCS SMARCA4 C12ORF57 NOTCH2NLC FGF9 SLC25A4 KCTD7 PLOD1 MSX2 SALL1 IMPDH1 NDUFB3 PCSK9 FAS IMPG2 FAM161A TP53RK TBCD CDON ALS2 IL6 CHCHD10 TRNL1 ABCG5 CTNNA1 TBX22 QRICH1 KCNC3 CRYBB3 TRNK PDYN A2ML1 TWIST2 DNAI1 CTDP1 SLC18A2 AP1S2 DNAJC6 COL1A1 COL5A1 IL17RC DARS1 NALCN TCF4 REPS1 TRNS2 VLDLR XYLT2 ARX SLC25A46 SPTBN2 RRM2B NFIX ERCC2 ALX4 TACR3 TNFRSF11A IFT172 EDN1 PIGC NKX2-6 EFL1 ATM CLN6 CEP290 MTFMT SMO ZIC1 OCRL DNAH11 KCNJ11 NF1 SOX10 SMARCC2 SETBP1 PEX10 MALT1 ASXL1 PLP1 SERPINC1 CTNNB1 YY1 RPIA NTF4 MYF5 TAP2 HADHA MME FLI1 RDH5 TRNN GRIN2A DNASE1L3 SMS SUFU FOXP1 PRPF4 GMPPB CA8 CRYAA ZSWIM6 NFIX MED13L PGK1 MYO7A RBBP8 PIGG NDUFA6 LOX ALG9 WFS1 KCNH1 PTPN11 MIR140 PITX3 SOS1 CHAMP1 POMK GLI2 SEMA5A MAPT GJC2 NYX GNB1 SDCCAG8 CEP164 SNRNP200 PITX2 FGFR1 NDUFS3 MBTPS2 TUBB AEBP1 KIAA0556 ND3 CHRNA1 CACNA1A ACOX1 KERA ACTA1 COX6B1 TCOF1 SGPL1 OPA1 ANTXR1 DNM1 CCNK PTDSS1 PROM1 EBP SOX10 SRD5A3 HSPG2 RPGRIP1L ADAM9 LARP7 WT1 ATXN3 ACTA1 AEBP1 RPL10 VAMP1 TGFBR3 FOXC1 NHP2 FGFR1 CAV1 SLC45A2 KDM6B P2RY11 FBLN5 NDUFS2 TRNS1 SOX4 MLPH PTPN11 USP8 PIEZO2 ARMC4 RAB23 PSAT1 IMPG2 KCND3 GALK1 STAT3 GRIN1 BIN1 JAG1 NRAS DHDDS FGFR3 HIBCH NAGA SSR4 ZIC2 GJA1 NIN NUBPL FBN1 SLC4A11 GNAS ESCO2 EFHC1 PSAT1 DNMT3B TPM2 LRPAP1 LRPPRC AGXT GCK IFNG B9D2 MUSK WARS2 POLH MAPT GBA2 ARL13B TWIST2 TNFRSF1A PRRT2 IDUA STT3A STRA6 ERCC3 ADAT3 CRYBB1 CYP7B1 TUFM POC1A GP1BB APC SLC52A2 CTNS PPP1CB PROKR2 NHS FAM20C KCNE5 CDK10 BRCA1 RERE PIK3R5 STXBP1 DVL3 NBAS STXBP1 RFWD3 CEP290 SLC24A1 PRX MAG SMPD1 ICOS DKC1 BPNT2 SMAD4 PRPS1 NRAS EXOSC3 SDHA GPC3 XPC AGRN PRPH2 ALG2 ARL6 UBA5 LMNA COL11A2 HK1 ITPR1 HSF4 SUCLA2 NUS1 KMT2A PMM2 ALDH18A1 EXT2 SRY GGCX UROC1 HYLS1 COL1A2 COX7B CDCA7 WRN VHL CACNB4 BCOR AP1B1 PROP1 MAPT MMUT COG4 PAX6 NDUFS7 RAX NPHP1 DDHD2 CLRN1 CLRN1 GLI3 NOG GPC3 PUS1 RARB ESR1 PIEZO2 MAPK1 TAB2 DOK7 GNB3 POMT2 SPR KRAS PPP1R15B FAT4 FIBP DVL1 EOGT TRNT IGF1 NADK2 HLCS CDON TANGO2 THOC6 ATP13A2 SCN4A TAF2 ATM B9D1 COL7A1 ARL3 AKT1 MYH9 THPO LONP1 GTF2H5 CYP27A1 TERT KCNA1 TPM2 COL2A1 OSGEP GRID2 CDH23 PAX3 ITGA2 KCNJ11 RYR1 USP7 MKS1 ND2 RB1 VAMP1 IFT172 TBX1 TUBB4A CEP290 H19 PDE4D CDHR1 NDUFAF3 WNK1 FKTN CYB5R3 RBM10 LMNB1 KIFBP ROR1 PSAP TXN2 BEST1 UBE2T APP GK CDH3 CHRDL1 POMGNT1 TMEM67 SLC25A22 ZSWIM6 CD79B CEP290 PIGO TMEM98 VIM MAP3K20 FBN2 IKBKG GREB1L CC2D2A KIT SIL1 RIPK4 FANCE MRPS34 LARGE1 FLNB KIF11 POU3F4 DHCR24 NPHP1 FAM161A CDH23 CHD7 UBE2A AHR NDE1 EDNRB PTCH2 PTCH1 ACY1 FGFR3 CYP1B1 USH2A DENND5A GNAS RD3 MITF FOXRED1 MAP2K2 DNA2 SRD5A3 PHGDH SOX9 TBCD TBC1D24 DNAAF4 TONSL RRAS NOD2 APOB TBC1D24 HTRA2 SLC19A2 AKT3 DAG1 RIN2 MGMT KIF7 PRRX1 TCF3 MYO9A NKX6-2 KIF7 PPP1R15B AARS2 ASXL3 DPAGT1 SYCE1 GRIP1 CEP120 PRSS56 MAPT PDHX BRAF ADAR TBC1D24 CRYAA PARN HECW2 COL3A1 TXNL4A TPM2 ZNF365 SLC25A24 AP4S1 DHCR7 COL27A1 ADA2 TSPYL1 HNF1A PAX6 ORAI1 RLBP1 ST3GAL5 SH3PXD2B GRM1 TTI2 MTTP PMS1 KCNA2 MTFMT PLK4 RPS6KA3 COL4A1 FLNA ATXN1 NDUFS8 COQ2 COG1 ND1 TDRD7 FOXL2 AGRN RRM2B PGAP3 APC GNAT1 GTF2H5 SON FANCM LDLR RET VHL ABCA1 PEX10 EIF2B3 ARHGAP31 BMP4 FBXO7 ZMYND10 TRPV4 EPCAM PLD3 ABCD1 GDF6 FLNB TBL1XR1 PEX14 FA2H ELOVL5 MPLKIP MBD5 HARS1 FYCO1 GLI3 UNC119 AKT1 APC ARL6 LZTR1 MYF6 FLRT3 RASGRP1 PDHA1 CENPE TCF4 NDUFB11 TNFRSF11A TTPA WNT1 HLA-B PEX1 SOST EPM2A SON BGN ARL13B KCNJ11 TREX1 BTNL2 CLRN1 MUSK FGFR1 COL2A1 OPA1 KMT2D CYBA KAT6A MFSD8 VSX1 PPP2R5D PNPLA6 FGFR3 CASK PCYT1A TMEM231 OPA1 PLG TAB2 PGAP2 DNAAF6 ANKRD55 PYCR1 LYST ND4 TRMT10A RPE65 PDX1 TANGO2 TBX1 MRPS14 IL17RD AHSG LYST ATXN8OS SPATA7 PEX6 ADGRV1 DSE PIK3CA RPL10 AHR GATAD2B COL11A1 SFXN4 RAB39B SDHAF1 SNAP29 NANS VAMP1 PDGFRB HPGD ATRIP CTNND2 PARS2 FARSB POMT2 PRCD COL2A1 FGFR2 RTTN PIEZO2 TGFBI MED12 CASK GRIN1 ARX HNF4A ALG9 BPTF SPG11 PEX5 CLCN7 ABCA7 FMR1 CACNA2D2 WDR34 SEMA3E CPLX1 SPRY4 ALG2 ARMC9 MFRP VSX1 WWOX EED KLHL40 CCDC103 SYNE1 GUCY2D KCNA1 SPATA7 WT1 RNASEH2C ABCC8 GABRA3 DYNC2H1 GPC4 HLA-DRB1 POMT2 COG8 OFD1 TRIM44 ALS2 ND5 IGHM HEXB KRT86 TRIP12 MAPT CTSA P4HB SLC2A1 TWNK PHOX2B FGF12 ARR3 ACTB BCR TRAF7 RRM2B NOTCH3 CYP4V2 PRSS56 SDHD DDX59 MAP3K7 COL9A1 FAM111A LRP5 CTBP1 CRX DPM1 CRB1 IFRD1 PEX12 TRNS1 ESS2 DPF2 IDUA RNU4ATAC KCNJ6 SACS PDE4D MST1 CA4 MSTO1 TGFBR2 RBP4 PABPN1 HADHA DNAH9 TCTN1 EFHC1 GLI3 GATA6 PEX19 PDE4D LRP4 NAGA PRRT2 APC TRIM28 TUB NLRP3 CTSK IDH3B LOXL1 INPP5K MFN2 PAX6 BFSP2 RECQL4 CLCN4 CRX TP63 PIK3R5 MEF2C PSEN2 FLNA TYMP COL11A1 GNAO1 CEP78 EBP STUB1 TK2 TMEM67 PNKP NHP2 CRYBB1 NEFL TDGF1 MYH3 PARS2 CDCA7 FLNA CAMTA1 PGK1 PRNP SIL1 COL4A4 CACNA1G ATP6 TRNQ SIN3A KIZ AGBL5 OAT PAK1 RBP3 CRYBA1 CHRNA7 COX8A FREM1 AP3B2 VLDLR PQBP1 PTF1A STAC3 KDM6A TGFBR1 GNB1 PTF1A RAB18 NTRK1 PARK7 HLA-DRB1 SHH ABCA4 CACNA1G SLC25A20 ITGB6 FZD2 FGD1 ALMS1 SLC4A11 NRAS GFPT1 LAMB1 PCNT TMEM67 MAP3K7 PRPH2 GRM1 MCOLN1 AARS1 STT3B ADA2 SMC1A TGFBR2 GMPPA FBXO31 HACD1 MOGS RET KMT2B RNF125 SUCLA2 FANCD2 FKBP14 SOX2 ACTB NEK1 ANKRD11 VHL GLA CDC42 SCO2 FERMT1 ATG5 ERCC2 SLC25A11 FGF3 DYNC2H1 GUCA1B ABL1 ABCB6 PRKDC CACNA1A SCO2 STXBP1 DCPS ASAH1 ATP6V1B2 ND1 HSD17B4 FXN SLC16A2 NACC1 DLG3 ERCC5 FANCL FRAS1 PDE6C FSCN2 THRA WDR73 PLOD1 FIBP EXT2 STAG1 FLT1 CFL2 FBN1 OPN1MW GJA1 GBA ACTB WASHC5 MTFMT PROKR2 TRMT5 IFT43 KISS1 CDC42 MMP2 THRB OGT CARS2 TRNS1 MAPKAPK3 ZMPSTE24 TMCO1 CFAP298 GATA2 SURF1 ZIC1 TP63 AHI1 CKAP2L MEF2C FUCA1 KIAA1109 HS6ST1 DNAAF1 TFG DPP6 FGD1 SIX3 CAPN5 CAPN1 TREX1 APOC2 XPA FKRP GLB1 CHRNA1 KIF7 PCNA ASB10 PTPN22 RAI1 INPPL1 MGP HPGD CNGB3 ELN CBS SLC25A1 AIPL1 MFN2 CHD3 CYP27A1 FGFR2 TERC LOX COX1 COX15 XPC PRKAR1A ZBTB18 ENG BUB3 NDUFA11 DOCK7 FANCA CNGB3 DYNC2LI1 ATP1A2 RAI1 SPRED1 MASP1 TRNF CCR1 MAD2L2 PKP1 GJB4 EVC2 ATP1A2 SMARCC2 TRNV C8ORF37 COX14 JRK NYX CRIPT CEP57 BMP4 MCM5 TENT5A CLDN19 WIPF1 SLC25A13 PEX12 BCL11B P3H1 INPP5K HTT ZNF592 BCS1L OPN1MW PAX6 ACADSB RIPK4 GPC1 KCNJ13 CHRNB1 JAM3 GRK1 TNFAIP3 CYP1B1 GJA8 SLC2A1 NUS1 OPA1 GAN CEP55 NLRP3 TRNS2 KDM6A NDUFAF4 BBS2 NGLY1 SLC39A8 ATXN7 COLQ CCNO BBS9 NDUFAF1 SQSTM1 CNOT1 PEX26 POLR1D ATIC TK2 SIN3A PITX2 WFS1 ETFDH KIF1C CISD2 LRRC8A CHST6 COA8 SELENON USH1G IFT27 SH2B3 OSTM1 SMOC1 ZFYVE26 TBL2 UBE3B BCAP31 CLDN16 LSS PRPF4 PNPLA6 TEAD1 TWNK PMPCA PEX1 POLR3B WDR4 XYLT1 ITPR1 ALDH7A1 PRNP PDYN TWIST1 MDH2 PRPF8 COL11A1 ICOS RB1 STRA6 YY1 USH2A FBXL4 RDH12 PRKCG GMPPB XPA AFF4 SCN4A KIAA0586 KNL1 RASA2 SOX2 NEUROD2 DONSON ERF TRNW PRNP NDUFAF2 ERF SLC6A8 GUCY2D TMEM240 GMPPB CLCN7 PRPF8 SOS1 ARNT2 DPM2 GNE ARSA PEX7 EXOSC9 BBS10 USH2A CCBE1 SMCHD1 SNX14 MYH3 FGF8 COL18A1 NME8 RAD21 NDUFAF3 DGUOK DPF2 BUB1B TRAPPC9 PIGO ERCC3 ALDH18A1 RAB11B OPN1MW FANCF GTPBP2 WDR19 TBC1D20 ASNS FAS SIX1 PDGFB CLCN7 ADAMTS2 IGFBP7 HLA-DPB1 PRIMPOL HCRT SHH SLC45A1 RAX2 DLST HSPG2 POMGNT1 CSTA PTRH2 TFG CRYBA4 TMEM138 SLC35A2 AMER1 DUSP6 HOXA13 COL11A1 NDUFAF5 COQ7 ALS2 KCNJ11 ERCC2 ADAMTS17 TP63 ERCC4 TMEM216 OPA3 LMX1B ITGA3 PDE6B RPGRIP1L FAT4 TRNK RAI1 TRNL1 GLI2 SPEF2 TIMMDC1 NSMF NDUFS4 RASA1 ZNHIT3 PIK3R1 PAH CHST14 GNAQ PRDM5 KRT81 KCNQ2 BBS7 PIGP SDHB GRIN2D LINS1 CDH23 ZNF513 NDUFAF2 IQSEC2 ATP6V1A LBR CEP120 ATRX ANK1 NEXMIF RNF113A CRYBA2 IRX5 GDF2 ALMS1 TRIP11 NR2F1 FGFR3 GBA HBB PUS3 AP1S2 BCORL1 SALL4 PUF60 COL12A1 HOXA1 TRIM28 GDF6 WHRN NOTCH3 MAF PIGL IMPDH1 RRM2B LHX4 TGFBI DNAAF3 CDON SNAI2 AGA IFT172 PDE6D NDUFA13 ASAH1 NPM1 IKZF1 TTC8 GLB1 LRRK2 ITPR1 WNT3 CLRN1 CEP152 CLIP1 PUS3 CNGA1 DNAJC12 RGS9BP ARSA ZEB2 MTHFS TRPV3 MLXIPL SPAST CRB1 RNF216 DNM1L CDH23 IKBKG TUBA8 PACS1 TXNL4A ALX1 TGFBR1 B3GALT6 EBP ELP1 NDP BAZ1B PRPS1 IL12B MAX POU1F1 SLC7A14 PEX1 CHRNG GP1BA PEX5 SCN8A MEN1 IBA57 KDM5C TUSC3 CPLX1 COL8A2 WDPCP ACTG1 ADAMTSL4 POMGNT2 HIKESHI MECP2 BOLA3 USH1G SORL1 RP1L1 PTEN AIFM1 ADAMTSL4 SDHB OTX2 GLB1 TRNW RET ALG11 KIDINS220 PDE6B POLR1A KDM1A IGHM IFT140 POGZ SCN3A LBR SLC25A24 NIPBL SBF2 SYNJ1 NIN NDUFA1 CLN8 IMPG1 GJA5 GTF2IRD1 UBA1 ATP6V1E1 MPZ LMNA LAMB2 GP1BA PEX1 SPATA5 PRKAR1A CCDC65 CRX NDUFS7 DLAT PAFAH1B1 SPG11 PYCR2 RP1 MYORG CLDN10 TRAIP ADAMTS3 SOX11 COL2A1 UBAP1 PDZD7 GATA1 COL8A2 NUP133 ZFHX4 GMPPB TWNK DNM2 CACNA1A SIX6 CHD7 NEU1 RBPJ CLEC7A PSAP KIF14 ATF6 PAX3 RAB3GAP2 RP1 TP63 BAP1 NF1 CHRDL1 TP63 NDUFV2 MAFA TGFBI PIEZO2 LACC1 DSE OPA3 ZMPSTE24 GBA CCND2 PPP2CA CABP4 LRP5 CA8 ZBTB20 TOP3A RPL35A DPH1 TCIRG1 GLIS3 DYNC1I2 RUNX2 ALDH18A1 SCP2 LTBP2 COL11A1 CHST14 DNAH5 TRNL2 CTSA KIF1C TRNK DCPS REEP6 TBX1 ABCA4 LTBP2 B4GALNT1 SCN2A DNAH1 RHO MAPK8IP3 PRPH2 PEX2 COL1A2 KMT2E HS6ST1 CLCNKB NFASC COX2 AP3D1 HSPD1 EYA1 AASS ITPA GPAA1 FKTN MID1 PITX2 PRPH2 UROS PRDM12 PAX3 CORIN USH2A ATP2B3 SBDS GNPTG LIM2 LRP5 LRRK2 PMP22 FHL1 H19 CLCN2 CNNM4 CP C12ORF4 TGDS CHD8 SH2B1 IMPDH1 P4HA2 PLCD1 SPART RECQL4 GNPAT ANAPC1 CKAP2L MYOC VHL SNIP1 SMPD1 PLA2G6 CHRNA1 HRAS ABCA12 FLNA DNM2 CBS RPGRIP1 UBE2A NDUFB8 COX7B ACADS GABRB2 CEP41 NTRK2 MYO5A TBL1XR1 FRMPD4 INPP5E PIGN DGCR2 CRX HADHA HMGA2 DNMT1 TTR POLD1 SMC3 KANSL1 SOX5 KRT12 CYB5A PCK1 TSC1 HNRNPA1 ATP8A2 TNFSF4 POMT1 FREM1 FLNA PIGN ERCC6 UMPS TRRAP MSMO1 SLCO2A1 EEF2 HCN1 TMEM67 NRL IFT122 ZC4H2 TACR3 PEPD ATP13A2 LMNA ZIC2 ZDHHC9 ACVRL1 GABRB1 LPL LMOD3 DIS3L2 VARS1 VPS11 GNPTAB NDUFS6 COL5A2 GNAT1 RFC1 KRIT1 FGFR2 TBCK SNX10 B4GAT1 APC MITF NDUFV2 TIMM50 BMP1 ERCC4 TSPYL1 LRP2 KIF7 CTNNB1 ATP13A2 DRC1 SDHD IFT140 SDCCAG8 AFG3L2 MMACHC POLR3A NPC1 FZD4 COL25A1 PEX5 CDH23 AGK ZFPM2 IFT80 PRPF31 WDR11 GRM6 GLI1 HPS1 ALDOA LARGE1 MTTP DVL3 PPP2R1A RAB23 TFAP2A FGFR3 NDUFAF6 FBLN5 EMD TREX1 SEMA4A SMCHD1 SNAP25 MEGF8 MUSK HGSNAT PEX26 NONO FGF14 CAMTA1 COL9A2 B3GALNT2 MARS2 DGCR6 SLC19A3 GPC4 RPGRIP1L FOXRED1 WDPCP FKTN GDF6 ROBO3 CARS2 YWHAE SMO EBF3 SAG PEX2 SLC38A8 FGF14 XYLT1 STXBP1 GABRG2 G6PC PRDM5 HLA-DRB1 AMMECR1 DLL1 TECR SOX9 GUCY2D SH3PXD2B KCNH1 NOP56 ATP13A2 FARS2 GATAD2B NDUFAF1 ABCC6 TWNK LAMP2 AUTS2 CYBC1 MAX FOXE3 DVL1 RECQL4 SALL4 PIGL HESX1 GNB3 GMPPB ALG2 LCAT NKX2-6 STUB1 XYLT1 ADAM9 AIPL1 PIBF1 CEL DGCR8 SETX FRAS1 TRNF TRPV4 MYO6 MKRN3-AS1 TBX15 ACTL6B TP53 LAS1L COL1A1 NDUFA6 ASPH B3GAT3 DNAJC19 APOB DHODH TRAK1 RSPH4A CLTC COLQ BEST1 BNC2 ALDH5A1 QARS1 LRAT CNTNAP2 TSEN54 SKI CYTB CACNA1E CTBP1 CHAT OPA1 PPP2R1A CFHR1 CTCF IQCB1 TBC1D20 GLI3 CRLF1 CD96 KDM6A FRG1 PROM1 ATRX RDH11 GFPT1 MYSM1 DNAI2 ND4 PEX6 NR2E3 KIF1B ZMPSTE24 COL11A2 UCHL1 UFC1 GORAB BDNF VHL DYRK1A PPP2R2B CLCN2 LBR DDC SMAD3 KITLG PEX16 HESX1 RPGRIP1L NF1 ERF TYROBP ABCC6 COL3A1 TRAPPC9 BIN1 PDX1 SDHA PEX14 CYP1B1 TP53 TH PIGW AMPD2 BBS9 LARGE1 ABCC8 CASR GMPPB NDUFS6 GABRB2 AP5Z1 WHRN CHSY1 GJB2 RNF13 SEC24D CLIP2 ERCC8 HSD11B2 NPHP3 MPZ PLA2G6 PYCR1 MVK COL4A1 CP TMEM127 GNAS TAPBP GPR179 FAM111A ALDH18A1 NDUFB11 HTRA1 CEP290 GRIA3 TMEM127 SHH LMNA FOXH1 SNAI2 ALDOB CRYAB TBC1D24 UBAC2 FBN1 MED13L POLG NLRP3 MBTPS2 TSC2 YAP1 PPP1R17 IDUA PLEC NDUFS8 GNA11 UBE3B HSD3B7 CNNM4 RMRP AP1S2 KCNQ1 GPR143 NHS FDX2 PEX7 HLA-B KDM5B ADGRV1 CLCN7 NAGA DNAJC13 ATRX NEU1 WDR60 TYR MTPAP FLNA BCOR TOMM40 ROR2 ACD BCOR KCNQ3 TARS1 FOXC1 ATN1 RET POLR1C TPP1 OFD1 NOTCH2 CPLANE1 PNPO ALG14 CNGB1 LMNA EFEMP2 B9D1 KRAS RNASEH1 POLG PLEC PDGFRB IGH ALDH1A3 NALCN USP9X PIGN ACY1 NOG CLN5 PPP3CA TRPM1 TCIRG1 OPN1LW DCX COL7A1 GMPPA CPLANE1 BRCA2 KCNJ1 DLL4 MYPN PCNT POMT1 FDXR L1CAM MGME1 SLC39A4 PRKAR1A COL2A1 GMPPB KLHL7 EMC1 RNU4ATAC LRAT DNA2 SAG FA2H ATXN8OS PRKAR1A OVOL2 ARID1B FOXE3 TPM2 KRT14 B4GALT7 GPAA1 PDE6A ZIC1 RNU4ATAC DDX11 DNMBP RPS19 ARL2BP HPS4 TRPV4 AP3B2 TYR PRKCD ALPL GZF1 PRPH2 TTC8 NUBPL TCTN3 SNRPN SH3BP2 FLVCR1 CENPE TBC1D24 DCN CCDC47 OPN1LW ITM2B TBC1D24 KAT6A B9D2 MAN1B1 PTCH1 HESX1 RAG2 RPGRIP1 FBXL3 HIBCH VWA3B NPAP1 BBS5 FRRS1L TUBB2B FAN1 PCDH15 FERMT1 ANO10 ABCC9 DPH1 ERF COL13A1 TULP1 COL4A3 ADAM17 VPS13B APC ND1 PEX13 BLOC1S3 COL1A1 ATP6V0A2 CTC1 NSMCE2 RPGR LIPT1 WWOX VAC14 SUZ12 LRMDA SUFU KCND3 MANBA FGFR2 DPAGT1 ADAR CACNB4 GNAQ IGLL1 TMEM94 FREM2 VCP BTD PTCH1 PLAGL1 CHRNB1 UBE3A MMADHC CHM FOXC1 ZNF408 PTCH1 GALK1 TSC1 ERCC5 DDR2 SMC1A MACF1 APOA2 SPG7 DKK1 CHSY1 SPEG BAP1 CEP104 PLA2G6 IGBP1 POLR3A DNAAF2 GGCX COQ2 APPL1 COL17A1 CPT2 LAS1L GDF3 PEX6 CCDC141 ACOX1 GPC4 YARS2 MIR184 HYMAI MAK FEZF1 XRCC4 SKI IDUA MCOLN1 RSPO2 CLCNKB KCNJ11 KCNV2 ATP1A3 STS NKX2-5 UNC45B SLC25A4 ENG CNTNAP1 ORC1 THOC6 POLR3A SLC2A1 SLC9A1 UFM1 TRNL1 KCNA2 RP9 GPIHBP1 STS NELFA CABP4 MYH3 EIF2B4 TWIST1 AMER1 HDAC8 GNAS TTC19 LYRM7 ATP6V0A2 BRAF CACNA1A WNT10A KISS1R SETBP1 KIAA0753 NSD1 MAFB CSPP1 ACO2 RANBP2 KRAS ERCC5 TGFBR2 RFT1 LZTR1 FBXO7 DVL3 STN1 PTEN ND2 SEMA4A RNASEH2A RNASET2 IFT74 B3GLCT C19ORF12 FGFR2 TGM1 KDM1A TMEM216 LTBP2 PMPCA LHX3 ITGA2B PXDN KIF1A TTN DGUOK BRCA2 IDH3B DDX58 WDR26 RAPSN CACNA1D FBN1 SNCA NOP10 FGFR3 NDUFB11 JMJD1C MEIS2 RAF1 TPP1 RSPRY1 CHST6 DGUOK SAMD12 PHGDH ND3 C9ORF72 KRAS SNORD116-1 CTCF GABRA5 SLC18A3 STAG2 YME1L1 FUT8 RAD21 PNKP ND5 RPGR TP63 NDUFAF5 NCF1 PROC RAD51 FLNA SCN1A GIGYF2 MITF PIGL ATR IBA57 FARS2 ALX1 PIGQ ZIC3 PROKR2 NEB PCARE HYMAI PRPF3 ATN1 BCAP31 KLC2 COL1A2 TP53RK SMOC1 SYNE2 PLP1 RPGR TMTC3 TIMM50 CCND1 SYT14 ABCG8 HOXB1 TULP1 LAMB2 WDR34 SLC52A2 ADNP CCDC151 CACNA1F KRT5 TRAPPC12 KLHL41 TCF4 NKX6-2 TCIRG1 HACE1 CTNNB1 C2CD3 DRAM2 SPATA5 TRNL1 FKRP COG1 NDUFAF4 TRNL1 RGS9 FGFR2 MOG LEMD3 AUH FGFR2 IMPDH1 DPM1 MYMK HDAC6 PRPS1 HADHB POU1F1 ALDH3A2 ZEB1 CAPN1 LAMA2 TSEN2 SCO2 POMK MED12 RNF113A ALX3 BEST1 FRMD4A CDKN2A UNC80 TWIST1 INPPL1 PAX3 SLC24A5 TNFRSF1A MITF STS MTM1 KIF15 RPGR RYR1 FRRS1L OPHN1 NOG MAST1 FGFR3 NDP BRAF SLC6A19 NRAS IFITM5 ABCC8 FXN SUMF1 PITX2 PEX3 RGR PEX14 KIF2A WARS2 ZMPSTE24 IREB2 C8ORF37 SPATA7 TCTN2 ATXN1 NOG FGFR2 TRIM37 MECR PSAP DNAJC21 ABCC8 STAC3 EYS LMX1B CNGB3 PDHA1 FTL PTCH1 SPECC1L TERF2IP SLC6A3 ACTA2 CHRNE CACNA1D MBOAT7 SIPA1L3 NDUFB9 ITGA8 PAX6 SEC23A AHI1 PDE6C MMP14 RP2 PIK3R2 HERC2 CACNA1A CTNNB1 SLC4A11 POMGNT1 NKX2-5 MID2 ATP6AP1 TMEM216 PDE6D CEP41 STRADA SHROOM4 FGFR1 TRAPPC2L GDF5 KRAS IDS NOTCH3 FGF5 FOXC1 EZR PET100 WFS1 EP300 NLRC4 COX15 KIF1A ARSL RHO NODAL PAX6 MBTPS2 TH PHOX2B DOK7 DNAJC19 NAGA PMM2 OCA2 HLA-DRB1 PAH HACE1 FOXC2 IQCB1 KLRC4 SAMD9L KIF1B PDCD1 TAF2 KCNK4 PLAGL1 RPGRIP1 NT5C2 PRKN PEX16 MERTK MPZ RDH11 TAT CYP1B1 KIT PIGY FGFR2 HDAC6 LZTFL1 COLEC11 PDE6A FH PDE6G SLC1A2 CHRNE IMPG2 CC2D2A KIF1A GATA3 RBP3 PROKR2 FAT2 MPLKIP ADPRS AP4M1 ALDH18A1 MTO1 SPRTN PCYT1A MAK NDUFS3 HRAS HPS6 GLRB HERC2 EEF1A2 EXOSC2 NLRP3 PIEZO2 TGFBI DAB1 RETREG1 ACTB RYR1 IFIH1 CTNND1 WT1 POMT2 MCM3AP FOXP1 LIG4 MAPT CEP83 TTN SELENON GRHL2 LAGE3 DBH SOBP KCNH1 SHANK3 ZNF408 STAG1 PAX3 FGFR1 ATP1A3 PSAP FBN1 GRIA4 ALDH18A1 CACNA1S LARGE1 IGF2 NIPBL NR2E3 BLNK PEX10 TMEM126B KLHL7 ARHGDIA CCDC88C IFT172 CNGB1 POLR3B ASXL3 PDE6G NOTCH1 ATAD3A FGFR1 DBH EHMT1 NCF4 SMAD4 AGBL5 TTC37 RAB3GAP2 CFAP410 GBA2 CEP78 GABRB3 CAMK2B POR CDH3 INVS RDH5 EDNRB PTPN22 DLX5 OFD1 CRX ADSL TMEM67 MAGEL2 TET2 CFAP300 SEPTIN9 CFHR3 IMPG1 TUBB RP2 IGF2 MSTO1 MYO9A EEF1A2 RHO SLC25A15 ANO10 CC2D2A TNFRSF13C NOP56 MKRN3 NSMF SKIV2L AIPL1 CLN3 OPN1LW SLC12A3 RTEL1 TCTN2 RAB3GAP1 TPM3 DDB2 TRNV TINF2 PIK3CA NPC2 TRNS1 SMAD4 PAX6 AP3D1 CNTN1 ELMO2 IL10 DLX4 SNX14 NALCN PEX11B CLCN4 FBXO11 MFSD8 CDHR1 CASP10 GCM2 SET EXTL3 CHST3 RAPSN TWNK GBA ATP6V0A2 ROR2 COX3 AAAS HERC1 PLAA ASPM CRYGB NUP62 CCNQ TGM5 ABCA4 TBC1D24 TTI2 GLE1 NDUFA4 NEB FH COG4 LZTFL1 TCF12 CBL KLC2 IQSEC2 SLC16A2 PEX26 MARK3 COL4A3 FAM111B CENPJ DMPK AIRE BLOC1S6 ZFPM2 FANCG PDE4D WDR35 SAMHD1 LIG4 LAMA1 WDPCP AP4M1 COX1 CD19 FLCN SNX10 SLC9A6 MIPEP TUBG1 GABRG2 EIF2S3 AIMP1 SNRNP200 CYP1B1 SLC16A12 FANCB PRNP MAP2K1 ELOVL5 TMEM216 TNF CWF19L1 ECHS1 HNRNPDL OPN1SW DCHS1 SPTBN2 TTC7A PRPH2 PNPLA6 PTH1R APC COL6A2 ERMARD TAT DHX38 FGFR2 ACTL6B KAT6B LAMB2 PANK2 TDP1 PNKP GPR143 MRAS SALL1 HUWE1 VPS33A FREM1 MITF CD96 ITPR1 MYH3 PEX12 SNAI2 AP3B1 MED12 DCTN1 GNPTAB
Protein Mutations 1
P23H
SNP 0
HP:0000556: Retinal dystrophy
Genes 378
RHO RAX2 SRD5A3 PEX5 MYO6 CSPP1 CTSD PHYH SEMA4A LRAT PMM2 CDH23 PDZD7 CEP41 ATXN7 MKS1 HACE1 PEX6 IQCB1 MYO7A PRPH2 CEP290 CDHR1 RPGRIP1 RHO PRPF6 FKTN RP1 KCNV2 MERTK RDH11 B4GAT1 PROM1 IQCB1 IFT27 ROM1 PROM1 LARGE1 CACNA2D4 RDH11 KIF5A PEX2 CERKL UBE3B RPGR PDE6A DAG1 AIPL1 PDE6G CEP164 PRPF4 ND4 CDH3 TRNT1 RNU4ATAC NR2E3 FGFR2 ARL6 CABP4 PEX10 CA4 PEX1 TRNL1 ROM1 RP9 CC2D2A CEP290 GATA3 ATP6 INPP5E CEP290 PRPH2 RDH5 PEX16 PEX19 MKS1 TOPORS BBS4 PCYT1A MAK TRNK KIAA0586 REEP6 MFRP GPR179 TUB RLBP1 KIF11 EXOSC2 RAB28 NPHP1 POMK IDH3B PGK1 RGR BBS2 PRPH2 AHR WDR19 PEX2 GUCY2D ACO2 CRPPA PRPF8 VPS13B USH2A BBS9 ABHD12 HSPD1 CRX PEX7 ITM2B BBS10 USH2A SH2B1 TRAPPC9 SIX6 PRPH2 SLC35A2 NYX BBS1 TIMP3 ZNF408 SDCCAG8 SNRNP200 WHRN ATXN2 GUCA1A APOB SLC19A2 IFT74 DAG1 NPHP3 TMEM216 MKKS ND3 PGK1 ACOX1 SYCE1 NDUFB11 KIZ SEMA4A SDCCAG8 RPGRIP1L PDE6G PROM1 CHST6 COL4A1 RBP3 CC2D2A MDH2 LAMA1 COX7B TMEM138 CEP41 AP3B2 RPL10 MYO5A CDH3 INVS INPP5E TMEM216 TRNK RPGR RPGR WDR19 ALMS1 ELOVL4 CRX IMPG2 TMEM67 CNNM4 RIMS1 TMEM67 PDE6B PDE6H LRIT3 COQ2 HGSNAT CEP290 ADGRV1 IMPG1 DHDDS RP2 NGLY1 PRPF3 TRNL1 PEX7 NDUFA9 TTC8 TMEM237 POC1B BBS12 GNAT1 OFD1 NEK1 ARL6 AIPL1 CLN3 CFAP410 PEX10 BEST1 RBP4 CCDC28B PDE6C BBS7 BMP4 NRL IFT122 RDH12 TUBGCP6 ZNF513 PEX6 CNGB1 ND1 POMGNT1 HACE1 GRN ANK1 CNGA1 PEX13 RNF113A DRAM2 GNAT1 FKRP PEX11B ND6 FSCN2 ALMS1 RCBTB1 POMT1 CFAP410 BBS2 TULP1 MFSD8 OTX2 PPP2R3C BBIP1 ND2 CLRN1 MVK PRPS1 CWC27 ND5 RHO NPHP4 LRP2 OFD1 POMT1 FDXR LRP2 CRB1 PEX1 IFT140 IMPDH1 RNU4ATAC KLHL7 SAG CEP120 BCS1L IFT172 CIB2 ABCA4 PRPF31 GRM6 HMX1 TRAF3IP1 MAPKAPK3 SLC24A1 TTC8 PNPLA6 KLHL7 LZTFL1 AHI1 RXYLT1 CRYAB CLRN1 ARL2BP ATP6 CNGA1 FLVCR1 PEX14 HCCS PEX26 INPP5E EXOSC3 WARS2 C8ORF37 ZNF423 RLBP1 NPHP1 HGSNAT RNF216 TELO2 PEX26 FLVCR1 TRAF3IP1 ARL3 ARL6 LAMA1 PMM2 ARV1 DNAJC21 EYS POGZ GGCX GRK1 BBS5 C1QTNF5 PCYT1A PRPS1 CACNA1F RBP3 SLC7A14 ABCA4 PCDH15 PEX1 NPHP4 SAG USH1C TULP1 VPS13B PDZD7 PCARE POMGNT2 RLBP1 ATP6 USH1G AHI1 TRNV RP1L1 TRNE CLRN1 C8ORF37 TTLL5 CDH3 PANK2 POMT2 PNPLA6 BMP4 PRCD TRPM1 LRAT RPE65 CLDN19 SLC19A2 TMEM138 PEX12 PCDH15 PEX16 DHX38 NEK2 PDE6B USH1C PANK2 CCNQ PITPNM3 IMPG2 POGZ WDR19 B3GALNT2 CACNA1F FAM161A CEP290 TMEM231 EFEMP1 PGAP1 WDR34 EP300 GUCA1B BEST1 ARMC9 ADAM9 PEX3 C8ORF37 PEX12 CREBBP TRNW
Protein Mutations 1
P23H
SNP 0
HP:0000505: Visual impairment
Genes 1402
SRD5A3 CACNA1F CRX CTC1 CSPP1 SARS1 PYCR2 RP1 NAA10 FBN2 FMN2 ST3GAL5 COX3 IGBP1 TRNS2 XYLT2 ARX SLC25A46 RRM2B MITF POLG C12ORF65 CHD7 TACR3 PEX11B PDE6H NEU1 IFT172 PIGC KIF14 ATF6 TRNL1 ZC3H14 RP1 CLN6 ZNF469 PSMD12 BCL10 PROM1 C8ORF37 TUBB3 CHRDL1 FGF17 OCRL HESX1 CERKL CCDC141 TGFBI SOX10 TMEM98 SETBP1 OPA3 PPP2CA CABP4 LRP5 PEX10 MALT1 HADHA ROM1 AIP MAFB B3GALNT2 ATP6 CDH23 ERAP1 RPS20 TCIRG1 NDST1 ND4L CSF1R SUFU DCPS MTRR RNU4ATAC FOXP1 LCAT REEP6 NR2F1 PEX11B ABCA4 PRPF4 CRYAA ND1 TUB RHO NFIX MAPK8IP3 PGK1 BBS2 POMT2 PRPH2 MYO7A PEX2 NDUFS1 COL4A1 ABCA4 FKRP VPS13B COX2 AP3D1 PITX3 GPAA1 POMK PRPH2 GNB1 CEP164 USH2A SNRNP200 PRPF6 RPE65 LIM2 GUCA1A LRP5 SDHA CNGA1 SMG9 CLCN2 CNNM4 PROK2 C12ORF4 XRCC2 ARHGEF18 IMPDH1 HLA-DQB1 SLC24A1 ND1 PRPF3 SLC7A14 MYOC VHL PLA2G6 TCOF1 OPA1 FCSK ANTXR1 CC2D1A CBS CDHR1 PROM1 NDUFB8 SRD5A3 LAMA1 ADAM9 COX7B WT1 MLH1 GABRB2 CEP41 NTRK2 CLP1 TMEM67 MEFV TGFBR3 FOXC1 TIMM8A FGFR3 GNAT2 BEST1 NCAPG2 INPP5E CRX TMEM216 CA2 SLC45A2 WASHC4 TTR TRNS1 ELOVL4 FGFR1 IMPG2 RPGRIP1 GRIN1 KRT12 POLG2 HGSNAT SCAPER POMT1 POLG PLA2G6 PIGN ERCC6 NAGA POC1B TRRAP ERCC2 MFF ANKRD11 PIGS PDE6C NRL CIB2 ZNF469 LRPAP1 GLRX5 TNFSF11 TUBGCP6 SDHB HLA-DPA1 WARS2 ACVRL1 GABRB1 CNGA1 AP4E1 TWIST2 VPS11 RS1 GNAT1 SNX10 B4GAT1 MED25 CHST3 MTRR CRADD ERCC4 CWC27 LRP2 LAMC3 PROS1 ARHGEF18 JAK2 IFT140 C8ORF37 ASPA PDZD7 GP1BB MMACHC SLC52A2 CTNS FZD4 TSFM PEX5 NHS LCA5 IFT172 SOX2 BRCA1 RERE MAN1B1 PDE6G PRPF31 NBAS RFWD3 CEP290 NDUFS2 BEST1 SLC24A1 HPS1 LARGE1 TGFBI PPP2R1A ELN MAG LRP5 TBX1 IFT140 ITGB3 FGFR1 FGFR3 ND5 PEX3 COPB2 PRPS1 PROM1 TREX1 SEMA4A PRPH2 PEX10 ARL6 ABCA4 SALL4 HK1 TELO2 ITPR1 PEX26 TULP1 DCC PEX12 ARL6 COL9A2 REEP6 B3GALNT2 SRY DIAPH1 RPGRIP1L LOXL3 AIFM1 C1QTNF5 GNAT2 FOXRED1 COX7B FANCC FKTN CARS2 SYNJ1 BCOR POMT2 LRP5 GUCA1A ND5 PANK2 SLC38A8 PEPD DDX3X TRAPPC12 SCN8A PEX26 TUBGCP4 PAX6 COL2A1 NDUFS7 TECR LMAN2L CLRN1 CLRN1 PIGA COL11A1 CA2 RPE65 FARS2 SLC19A2 NDUFAF1 ABCC6 COG5 LAMP2 POLA1 ND6 PLXND1 ZEB1 FOXE3 PEX1 PRTN3 TYR PHGDH PGAP1 NADK2 TANGO2 PROM1 GNB3 GUCA1B SOST XYLT1 COL7A1 ARL3 ADAM9 AIPL1 CD109 C8ORF37 THPO RSRC1 TRNC FRAS1 OFD1 TRNF CLCN7 SALL4 NDUFA6 CTSD B3GAT3 SEMA4A ITGA2 RAB18 PRDM16 BEST1 ND2 PEX6 POLG LRAT TUBB4A TSEN54 PPP3CA SKI CYTB PDE4D CACNA1E CDHR1 NDUFAF3 RIMS1 PRPF6 TENM3 OPA1 CC2D2A PPP2R1A CFHR1 PROM1 CACNA2D4 ATRX SCO2 RDH11 PSAP PDXK PEX2 BEST1 FRMD7 UBE2T KIF11 OCA2 USP8 ARL2BP NDUFS2 POMGNT1 MTR BDNF TRNT1 CEP290 RPGRIP1 EPRS1 PEX16 LCA5 COL18A1 IQCB1 RERE NDUFS4 RPGR IKBKG ABCC6 PRPH2 COL2A1 MC1R ARSA GSN FANCL KIF11 POU3F4 SDHA FAM161A PEX14 CDH23 TP53 AHR SCN9A AMPD2 CYP1B1 RD3 GUCY2D GMPPB GLRX5 NDUFS6 CYSLTR2 WHRN ARNT2 SMARCB1 NOD2 RNF13 WDR11 TBC1D24 CLIP2 NDUFV1 SLC19A2 SPRY4 SETD5 NPHP3 POMGNT1 GRIK2 CHP1 KIAA1549 ANOS1 OPA3 HLA-B GNAS ADAMTS10 GRIP1 GPR179 MYO7A C1QBP BRAF TBC1D24 POLG2 NMNAT1 TIMMDC1 HECW2 TRAPPC11 COL3A1 PROKR2 AP4S1 BMPR1A RD3 CNGA3 UBAC2 GALC FBN1 ADA2 PAX6 RFT1 RLBP1 RPGR TCF12 ST3GAL5 TMEM67 IL23R MTTP PMS1 ST3GAL5 CHM GNA11 ND6 MTFMT SLC52A2 NEK2 PLK4 RMRP GPR143 COL4A1 NHS FDX2 PEX7 CERKL KDM5B NDUFS8 CEP290 ND1 CLCN7 ADNP NEU1 FANCA WDR45B MSH6 TYR TGFBI POMT1 PGAP1 MIR204 BRAF GNAT1 BCOR SON PIK3CA FANCM TTLL5 ATN1 GPR143 TNFSF11 PEX10 EIF2B3 RBP4 SDHAF1 AIMP1 GNAT2 PEX6 EPCAM CNGB1 PDSS2 CNGB3 ABCD1 KRAS GDF6 HESX1 PEX14 FA2H PEX13 SMCHD1 MBD5 HARS1 UNC119 IGH CDKL5 PIGN DOCK7 FLRT3 TULP1 CLN5 TRPM1 PRPF31 TCIRG1 OPN1LW TRIM44 GMPPA BRCA2 CNGA3 MC1R B3GALNT2 TEK SEMA3A NDUFB11 TNFRSF11A TTPA FDXR LRP2 HLA-B GTF2I SLC39A4 CRYGC TRNW PEX1 PEX6 EPM2A PHOX2A EMC1 RTN4IP1 LRAT SON SAG TYR ARID1B PRPH2 TREX1 BTNL2 CLRN1 TRAF3IP1 SLX4 TRNH OPA1 KAT6A ERCC1 MFSD8 ATXN7 PEX3 GPAA1 PDE6A CRBN TCOF1 FGFR3 PROM1 CASK RAB28 ARL2BP PCYT1A HPS4 VPS11 TYR HCCS INPP5E OPA1 PLG FGF12 PIGT NPHP1 PRPH2 WDR26 FANCI TTC8 LYST PEX13 NUBPL ND4 SH3BP2 FLVCR1 ARL3 TRIO MMP1 RPE65 DCN CCDC47 OPN1LW APOE IL17RD KAT6A TIMM8A TUBGCP4 AHI1 LYST RPGRIP1 KIF5A SPATA7 FRRS1L TUBB2B PCYT1A PEX6 FAN1 ADGRV1 FAS RBP3 COL9A3 TSPAN12 AHR NPHP4 COL11A1 ERF SFXN4 SDHAF1 TULP1 SOST PEX16 LTBP2 ATP6 ND1 PEX13 BLOC1S3 OSGEP AIRE PDSS2 TRNE GTPBP3 NSMCE2 OTX2 RPGR CERT1 PEX16 TELO2 SOX3 TNIK SLC25A1 PITPNM3 MLH3 SPG11 OPA3 CEP290 OAT TMEM231 GNAQ CLCN7 EFEMP1 CHN1 SALL2 FREM2 USH1C BTD ARSA ALG2 ARMC9 CHM ZNF408 SPTBN4 ARSG PEX5 GUCY2D SPATA7 BAP1 HGSNAT CACNA1B PEX13 CYTB POMT2 HLA-A COQ2 TRIM44 ND5 HEXB COL17A1 PEX6 RPGR CCDC141 GUCA1A CRB1 MIR184 POMGNT1 TRAF7 NOTCH3 CYP4V2 TUBB4B MAK CACNA2D4 FEZF1 BEST1 COL9A1 IL12A MCOLN1 FSCN2 GABRD ND4 LRP5 CRX KCNV2 DPM1 ATP1A3 COX3 BBS2 CRB1 ROM1 PEX12 ENG TRNS1 ATIC RP9 CNTNAP1 UFM1 TRNL1 RP9 C12ORF65 IL12A-AS1 ATF6 HSD17B10 CABP4 EXOSC8 PEX19 MKS1 GUCA1A EIF2B4 SARDH PEX2 MFRP MMP19 GPR179 TUB RAB28 VCAN CYTB KISS1R IDH3B WDR19 TWIST1 MFN2 CLCN4 NDE1 RFT1 CRX PITPNM3 ITM2B CACNA1F ARL3 C12ORF65 SAG ND2 SEMA4A TK2 CRYBB1 B3GLCT C19ORF12 MERTK FGFR2 PARS2 UCHL1 TMEM216 LTBP2 ITGA2B YAP1 KIF1A PGK1 IDH3B WDR26 CACNA1D TRNQ NDP XRCC4 NDUFB11 KIZ COL7A1 H1-4 AGBL5 TPP1 OAT FGFR2 HMCN1 PALB2 RBP3 CC2D2A RPE65 ND3 TBCK ND6 PQBP1 CFI FANCE ATF6 YME1L1 PTPN22 GNB1 ATP6 PRPS1 ND5 NDUFS2 HLA-DRB1 ACO2 FAS AMACR RAD51 ALMS1 SLC4A11 SCN1A CTNNB1 PRPH2 COX2 ABCA1 IBA57 PEX19 PRCD PORCN PROKR2 PCARE PRPF3 FBXO31 FGF8 DHDDS SUCLA2 TP53RK FANCD2 CACNA1F SLC25A4 ACTB RPGR CHN1 ZNF513 ASPA OCRL TULP1 CDC42 BEST1 FGFR2 SLC52A2 ADNP CACNA1F BIRC3 TRAPPC12 ERCC4 METTL23 GUCA1B PDE6B PRKDC SAG GRM6 CNGA3 TCIRG1 HSD17B4 STAT4 FXN GRN ERCC5 TUBA3D FRAS1 DRAM2 SPATA5 FKRP PDE6C TRNL1 FSCN2 BTD FGFR2 LEMD3 PLOD1 SF3B1 RAC1 CLRN1 IMPDH1 ATP6 GJA1 PAX6 DLD TSEN2 DTNBP1 NAA10 ANKH SELENOI POMK ROM1 TGFBR2 POMT1 PDE6B GUCY2D ND2 TWIST1 SLC24A5 OGT CARS2 RAB3GAP2 MAPKAPK3 COX1 ANGPTL6 NDP GATA2 ZIC1 AHI1 KCNJ13 CKAP2L FXN SUMF1 HS6ST1 TFG RGR PAX6 PEX14 ND4 CAPN5 WARS2 TMEM126A C8ORF37 NMNAT1 ZNF423 SPATA7 MED25 FKRP NHS TRNQ NSUN2 ASB10 PTPN22 LMNB1 CNGB3 ELN PITX2 CBS MECR AIPL1 CHD3 PSAP TSEN34 COX1 ENG OPA1 NDUFA11 EYS DOCK7 CNGB3 PDGFB NDUFAF2 DHX38 PLK4 ABCA4 CCR1 MAD2L2 EMC1 CACNA1D USH1C MBOAT7 NDUFB9 PCARE DPP6 FOXRED1 AHI1 PDE6C RP2 RLBP1 PIK3R2 IFT140 C8ORF37 GDF6 SLC4A11 NYX BMP4 PMPCB TRPM1 LRAT RFC2 GTPBP3 TUBB3 PHF6 PUF60 CHMP1A CDH3 TRAPPC2L SMARCB1 GJB2 CACNA1F ND6 OPN1MW CTLA4 NOTCH3 CNGB3 EZR ADAMTS10 FKTN PPT1 BEST1 NLRC4 IFT88 KCNJ13 XYLT2 PEX3 LSS KIF1A GRK1 SDHD RHO RAX2 ARID1A NUS1 MICOS13 DRAM2 NAGA NDP TRNS2 LRAT OCA2 HEXA NDUFAF4 RDH12 ATXN7 CLCN7 IQCB1 MYO7A IDH3A KLRC4 PIGT GM2A PEX26 POMGNT1 RPGRIP1 POLR1D ATIC KCNAB2 CLN8 ENPP1 PRDX1 KIF1C PEX16 MERTK TAT MAB21L1 ST3GAL3 CHST6 PROM1 PIGY USH1G OSTM1 FBN1 LIMK1 ZFYVE26 NLRP3 TBL2 PAX2 HPS5 PDE6A FH AIPL1 CEP164 SHANK3 NADK2 IMPG2 TWNK TRNF CEP290 GJA1 RBP3 KIZ RGS9 PRPF8 PCDH12 TOPORS USH2A DNM1L COX3 TOPORS RDH12 PCYT1A GMPPB MAK KIAA0586 MICOS13 FKTN NDUFS3 SOX2 HPS6 NEUROD2 LRP5 TRNW RLBP1 SCAPER ALG3 ISCA2 USP45 RGR PIEZO2 MPL GUCY2D CLCN7 PRPF8 ESPN ARNT2 DUSP6 ARSA AFF4 REV3L LRIT3 USH2A TUBGCP6 SURF1 IBA57 GRHL2 SOBP COL18A1 TIMP3 ZNF408 SH3BP2 NDUFAF3 HARS1 PSAP FBN1 POLG BRIP1 TRAPPC9 LARGE1 ELOVL4 OPN1MW RAB11B OPN1MW POC1B FANCF GTPBP2 NR2E3 WDR19 EIF2B2 PEX10 KCTD7 TBC1D20 TMEM126B AHDC1 ASNS KLHL7 MED23 ARHGDIA XYLT2 CLCN7 SEMA4A HLA-DPB1 CNGB1 SDCCAG8 PRIMPOL ND1 PDE6G HSPG2 TMEM138 SLC35A2 SMAD4 AGBL5 CFAP410 C12ORF65 CEP78 CAMK2B NDUFAF5 C4A COQ7 CDH3 INVS RDH5 CRB1 INPP5E PTPN22 CA4 POLR1C TRNK NHLRC1 SCN3A SLC45A2 CRX OPA3 EYS PEX2 RIMS1 SLC1A3 PDE6H COQ2 CFHR3 IMPG1 DNM1L RP2 GNAT1 TRNK NARS2 AP4B1 EDC3 RHO TMEM237 NSMF SLC4A11 ZNHIT3 AIPL1 CLN3 OPN1LW CFAP410 POLG RHO PRDM5 PRNP PIGP LINS1 CEP290 TLR4 SLC39A14 CDH23 TRNV ZNF513 GJB2 NF2 NDUFB10 PAX6 SLC45A1 ZNF408 ELMO2 IL10 EIF2B5 GJB6 PRSS12 SAR1B PEX11B BRAT1 GDF2 ALMS1 PMS2 RCBTB1 NR2F1 FGFR3 CLCN4 HBB PUS3 EIF2B1 MFSD8 CDHR1 IMPG2 PAX6 NDUFS4 RHO NPHP4 CFH PAX6 RAD51C GDF6 ND4L WHRN COX3 IMPDH1 AAAS P4HTM CEP120 BCOR ABCA4 TYR MYOC IKZF1 TTC8 GNAQ NRL HPS3 CLRN1 CLIP1 PUF60 FLVCR1 PEX26 RGS9BP MARK3 MTHFS PLEKHM1 BAP1 AIRE TRNS2 MLXIPL FANCG EARS2 USP45 SLC24A5 LAMA1 FGFR2 CDH23 RAX2 AP4M1 SEMA4A COX1 POGZ TACSTD2 NDP AIMP1 BAZ1B HNMT SNRNP200 ELOVL1 PRPS1 CACNA1F CYP1B1 SLC7A14 NDUFV2 CRX MEN1 IBA57 PEX5 ABCC6 RAB3GAP1 FANCB ARHGEF2 TUSC3 ADAMTSL4 HIKESHI BOLA3 CACNA2D4 SLC52A3 RP1L1 IQSEC1 PRPH2 GDF3 PNPLA6 MSH2 SMARCA4 APC TRNW PLOD1 MSX2 FGFR2 KIDINS220 LAMB2 SCN1A PANK2 IMPDH1 GPR143 NDUFB3 IFT140 IMPG2 POGZ FZD4 SYT1 GRIN2D FAM161A NF2 NDUFA1 CLN8 IMPG1 PCDH15 GTF2IRD1 PEX12 SDHD AP3B1 PEX19 GP1BA PEX1 GUCY2D SPATA5 PHYH
Protein Mutations 0
SNP 0