SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation P23H

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 A Prospective, Multicenter, Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) With Misfolded Rod Opsin Mutations

The purpose of this study is to gain an understanding of how adRP progresses over time in patients with misfolded rod opsin mutations.

NCT02926092
Conditions
  1. Retinitis Pigmentosa
Interventions
  1. Diagnostic Test: Observation
MeSH:Retinitis Retinitis Pigmentosa
HPO:Cone/cone-rod dystrophy Pigmentary retinopathy Rod-cone dystrophy

The subject has 1 documented pre-specified heterozygous rhodopsin gene (RHO) mutation confirmed by genetic testing (mutations will include P23H, T17M, and R135W). --- P23H ---

Primary Outcomes

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations using ellipsoid zone (EZ) area measurements

Time: Baseline to 4 years

Secondary Outcomes

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by EZ width

Time: Baseline to 4 years

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by visual fields (kinetic and static)

Time: Baseline to 4 years

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by dark-adapted rod visual fields

Time: Baseline to 4 years

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by electroretinography (ERG): dark- and light-adapted

Time: Baseline to 4 years

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by best corrected visual acuity (BCVA)

Time: Baseline to 4 years

Measure: Vision-related function and quality of life as measured by 25-item National Eye Institute Visual Function Questionnaire (NEI VFQ-25) plus its additional items

Time: Baseline to 4 years

2 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
Conditions
  1. Autosomal Dominant Retinitis Pigmentosa
  2. Eye Diseases
  3. Eye Diseases, Hereditary
  4. Retinal Dystrophies
  5. Retinal Disease
  6. Retinitis
  7. Vision Tunnel
  8. Vision Disorders
Interventions
  1. Drug: QR-1123
  2. Other: Sham procedure
MeSH:Arthrogryposis Vision Disorders Eye Diseases Retinitis Retinitis Pigmentosa Retinal Diseases Retinal Dystrophies Eye Diseases, Hereditary Genetic Diseases, Inborn
HPO:Abnormal retinal morphology Abnormality of the eye Arthrogryposis multiplex congenita Cone/cone-rod dystrophy Hemeralopia Metamorphopsia Pigmentary retinopathy Retinal dystrophy Retinopathy Rod-cone dystrophy Visual impairment

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 congenital amaurosis, etc). --- P23H ---

Autosomal Dominant Retinitis Pigmentosa Eye Diseases Eye Diseases, Hereditary Retinal Dystrophies Retinal Disease Retinitis Vision Tunnel Vision Disorders Arthrogryposis Vision Disorders Eye Diseases Retinitis Retinitis Pigmentosa Retinal Diseases Retinal Dystrophies Eye Diseases, Hereditary Genetic Diseases, Inborn 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 Arthrogryposis Vision Disorders Eye Diseases Retinitis Retinitis Pigmentosa Retinal Diseases Retinal Dystrophies Eye Diseases, Hereditary Genetic Diseases, Inborn 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 ---

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: Serum levels of QR-1123

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

Time: up to 12 months

3 Oral Hydroxychloroquine for Retinitis Pigmentosa Caused by P23H-RHO (Substitution of Proline to Histidine at Codon 23 of the Rhodopsin Protein)

This research study is being done to learn what effect 12 months of treatment with oral hydroxychloroquine (HCQ) will have on the retina in people with retinitis pigmentosa (RP). The hypothesis is that treatment with HCQ is safe and tolerable in patients with autosomal dominant retinitis pigmentosa (adRP) caused by P23H-RHO, and may arrest progression of retinal degeneration by altering the autophagy pathway in photoreceptors. Participants that meet eligibility and agree to the study will be asked to take the study medication (HCQ) for 12 months and have evaluations for up to approximately 18 months from the baseline visit. There will be a total of 6 visits (1 is a phone visit) and will include general examinations, blood work, electrocardiograms, along with special testing of the retina.

NCT04120883
Conditions
  1. Retinitis Pigmentosa
Interventions
  1. Drug: Hydroxychloroquine lower dose
  2. Drug: Hydroxychloroquine higher dose
MeSH:Retinitis Retinitis Pigmentosa
HPO:Cone/cone-rod dystrophy Pigmentary retinopathy Rod-cone dystrophy

Oral Hydroxychloroquine for Retinitis Pigmentosa Caused by P23H-RHO (Substitution of Proline to Histidine at Codon 23 of the Rhodopsin Protein). --- P23H ---

Oral Hydroxychloroquine (HCQ) for Retinitis Pigmentosa Caused by P23H- Rhodopsin (RHO) This research study is being done to learn what effect 12 months of treatment with oral hydroxychloroquine (HCQ) will have on the retina in people with retinitis pigmentosa (RP). --- P23H ---

The hypothesis is that treatment with HCQ is safe and tolerable in patients with autosomal dominant retinitis pigmentosa (adRP) caused by P23H-RHO, and may arrest progression of retinal degeneration by altering the autophagy pathway in photoreceptors. --- P23H ---

Inclusion Criteria: - Stated willingness to comply with all study procedures and availability for the duration of the study - Signed and dated informed consent form - Early Treatment Diabetic Retinopathy Study Best Corrected Visual Acuity (ETDRS BCVA) of 20 letters (approximately 20/400 Snellen) or better in at least one eye - Clinical diagnosis of autosomal dominant retinitis pigmentosa - Confirmed to have one copy of the P23H-RHO pathogenic variant by genetic testing at a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory - Clarity of ocular media and adequate pupillary dilation to allow for adequate clinical ocular examination and retinal imaging - Ability to perform testing required by the study as determined by the investigator - Ability to take oral medication (medication tablets must be swallowed whole) and be willing to adhere to the daily medication regimen - For females of reproductive potential: use of highly effective contraception beginning no later than 1 week after the first screening visit, and agreement to use such a method during study participation and through the end of the washout period (6 months after the end of HCQ administration) - Agreement to adhere to Lifestyle Considerations throughout study duration (take the study drug with meals, avoid taking over-the-counter antacids or kaolin-containing products 4 hours before or after taking the study drug) Exclusion Criteria: - Use of any other drugs which are known to prolong the QT interval - Concurrent use of any of the following drugs, if the drug cannot be discontinued or substituted: digoxin, antiepileptic medications, cimetidine, methotrexate, cyclosporine, praziquantel, ampicillin - Current or previous use of tamoxifen - Pregnancy or lactation - Known allergy or hypersensitivity to hydroxychloroquine or any other 4-aminoquinoline drugs (chloroquine, amodiaquine, mefloquine, quinacrine, etc.), or known history of glucose-6-phosphate dehydrogenase deficiency - Treatment with another investigational medical intervention for retinitis pigmentosa within 3 months, or any ever previous treatment with an investigational surgical intervention - Any pre-existing cardiac, renal, hepatic, or hematologic disease, any prior history of psoriasis or porphyria, or any alcoholism - Abnormal screening laboratory values including aspartate transaminase (AST) or alanine transaminase (ALT) > 2.0 x upper limit of normal, subnormal glomerular filtration rate (< 90 mL/min/1.73m2) --- P23H ---

Primary Outcomes

Description: These will be performed at: screening, baseline, 4 months, 12 months, and 18 months

Measure: Change in Ellipsoid zone area measured by Spectral-Domain Optical Coherence Tomography (SD-OCT)

Time: screening up to 18 months

Description: These will be performed at: screening, baseline, 4 months, 12 months, and 18 months

Measure: Change in Retinal sensitivity (decibels) measured by scotopic and mesopic microperimetry

Time: screening up to 18 months


HPO Nodes


HP:0000510: Rod-cone dystrophy
Genes 259
RPGR DNAAF3 SH2B1 BBS2 TRNK NPHP4 DNAH1 DNAL1 DNAAF1 ABCA4 PEX3 PEX6 AIPL1 PRCD LRRC56 WARS2 FLVCR1 BBS1 ZNF513 ND2 PEX7 PMM2 RBP3 ND1 RSPH9 PRPF8 SPEF2 KIF3B DNAJB13 MAK MCIDAS PDE6G DNAH11 CEP290 ATP6 AP3B2 HSPD1 SEMA4A TULP1 SDCCAG8 ATXN2 ODAD2 PEX12 ABHD12 CFAP221 DNAI1 PPP2R3C LRAT PCDH15 CLRN1 CERKL CCDC103 SLC7A14 BBS12 OFD1 DNAAF5 DRC1 CTSD PDE6B NPHP1 PMM2 APOB C8ORF37 MERTK GUCA1B SPAG1 ZNF408 CNGA1 ADGRV1 BBS5 RP2 IQCB1 RP9 SAG FLVCR1 RP1 MKS1 ND4 DNAH5 ODAD3 MAPKAPK3 MDH2 OFD1 RGR IFT74 NDUFA9 PANK2 PEX16 RPGR ATP6 RPGR NEK2 NR2E3 TRAF3IP1 PDE6A STK36 EYS NRL C8ORF37 BCS1L TMEM67 CFAP300 POGZ CLN3 COQ2 LRRC6 RBP3 KIZ TULP1 ASPA CDH23 TMEM67 USH1C PEX12 FSCN2 TRNV CDHR1 WHRN MTTP CCNO CLRN1 HYDIN BBS10 PCARE SNRNP200 POGZ PDZD7 GGCX PEX6 TRNW PEX2 PEX10 SLC35A2 EXOSC2 RDH11 ODAD4 CCDC40 ARL2BP RSPH3 PCDH15 MVK RPL10 BBS2 KIF5A TOPORS CNGA1 ND5 NEK10 BBIP1 PEX26 C1QTNF5 C8ORF37 IDH3B PRPS1 CCDC28B WARS2 PEX1 CIB2 HMX1 DNAAF2 HGSNAT GATA3 IFT140 BEST1 SRD5A3 REEP6 ARL6 KLHL7 ARL6 DNAI2 DNAAF4 USH1C HK1 BBS4 ACBD5 CC2D2A PEX13 RHO RSPH1 TTC8 IFT172 MFRP ROM1 MYO7A ROM1 ND3 HGSNAT DNAH9 TELO2 USH2A TRNT1 BBS9 USH2A MKKS AHR PRPF6 FOXJ1 HSD17B10 PEX19 PEX5 ODAD1 PROM1 TTC8 IMPDH1 CRB1 DHX38 CRX CFAP298 IFT27 CEP290 NME8 IMPG2 CEP290 CCDC39 ARL6 CA4 DHDDS ND6 PEX14 CFAP410 WDR19 FAM161A DNAAF6 PRPF31 PEX11B TTC12 PRPF4 BBS7 LRAT USH1G PEX2 PDE6G MYO6 DYNC2I2 RSPH4A PRPH2 OFD1 ZMYND10 CCDC65 GAS2L2 PRPF3 PEX1 SEMA4A ARL3 ATP6 ARL6 CWC27 KLHL7 ACOX1 CNGB1 GAS8 PEX7 PHYH CLDN19 FDXR PDZD7 RPE65 TRNL1 PANK2
Protein Mutations 3
P23H R135W T17M
SNP 0
HP:0000556: Retinal dystrophy
Genes 450
SH2B1 BBS2 TRNK DNAH1 RHO FGFR2 DNAAF1 ABCA4 PEX3 PEX6 BEST1 PRCD LRRC56 WARS2 ERCC6 GRK1 POMT1 BBS1 ZNF513 SAG NGLY1 RBP3 HACE1 ND1 RSPH9 PRPF8 KIF3B MAK CEP120 MCIDAS DNAH11 PRPH2 CEP290 CEP164 ATP6 AP3B2 HSPD1 CDH3 PRPS1 FKRP ABHD12 CFAP221 BMP4 NPHP1 CEP290 PDE6H NYX CERKL SLC7A14 DRC1 VPS13B MYO5A PMM2 CNNM4 APOB PEX1 SLC19A2 SPAG1 SYCE1 PCYT1A ZNF408 RXYLT1 PEX10 RP9 SAG FLVCR1 WDR19 ND4 SDCCAG8 MAPKAPK3 MDH2 RDH5 RGR IFT74 PANK2 ATP6 CACNA1F NEK2 CREBBP STK36 IFT122 PITPNM3 VPS13B NRL BCS1L DAG1 TMEM67 RNU4ATAC CFAP300 CLN3 LRRC6 TIMP3 KIZ RAX2 TULP1 ASPA CDH23 TMEM67 DAG1 TRNV CEP290 NEK1 CCNO RNF216 ERCC8 HYDIN BBS10 NDUFB11 GPR179 SIX6 PDZD7 CRYAB IQCB1 GGCX SLC35A2 EXOSC2 RDH11 ODAD4 CCDC40 INPP5E RDH11 PCDH15 MVK DDR2 TOPORS ND5 BBIP1 RIMS1 POMGNT2 C8ORF37 PRPS1 ATXN7 POC1B CACNA1F SLC19A2 PEX1 TMEM216 CIB2 HMX1 GATA3 CACNA2D4 IFT140 GRN ACO2 DNAJC21 ARL6 LAMA1 ITM2B PGK1 DNAI2 GUCY2D PEX26 ACBD5 CC2D2A PEX13 RHO RSPH1 NPHP3 MFRP TRNE MYO7A FKTN ND3 RHO TRAF3IP1 HGSNAT PROM1 DNAH9 BBS9 USH2A AHR GRK1 FOXJ1 KIAA0586 GPR179 PROM1 IMPDH1 GRM6 CFAP298 CEP41 RBP4 TMEM138 ALMS1 CFAP410 RNF113A PEX16 CA4 DHDDS PEX14 FAM161A LRIT3 NPHP4 TTC12 BBS7 OTX2 LRAT USH1G RP1L1 PDE6G MYO6 DYNC2I2 PRPH2 GAS2L2 LRIT3 ARL3 ARL6 CWC27 KLHL7 ELOVL4 CNGB1 GAS8 PEX7 PHYH KCNV2 FDXR RPE65 TRNL1 PANK2 SLC24A1 RPGR DNAAF3 LRP2 NPHP4 DNAL1 AIPL1 FLVCR1 IMPG1 ND2 POMT2 PEX7 PMM2 RLBP1 TUBGCP6 ZNF423 CABP4 RPGRIP1 SPEF2 DNAJB13 TMEM237 MFSD8 TMEM231 TRNK PDE6G UBE3B GUCA1A TTLL5 WDR19 SEMA4A TULP1 SDCCAG8 ATXN2 ODAD2 PEX12 RLBP1 HCCS DNAI1 GNAT1 CCNQ PPP2R3C LRAT PCDH15 CLRN1 CCDC103 BBS12 OFD1 DNAAF5 EFEMP1 BMP4 LAMA1 CTSD PDE6B NPHP1 C8ORF37 GNAT1 MERTK B3GALNT2 GUCA1B CNGA1 ADGRV1 RPGRIP1L BBS5 RP2 TRAPPC9 IQCB1 COL4A1 RP1 MKS1 DNAH5 ODAD3 ABCA4 RHO OFD1 NDUFA9 PEX16 RPGR RPGR CABP4 NR2E3 TRAF3IP1 PDE6A CDH3 TMEM216 RDH12 EYS C8ORF37 IMPG2 POGZ COQ2 RBP3 LARGE1 USH1C PEX12 FSCN2 CDHR1 WHRN MTTP CLRN1 PCARE SNRNP200 TRPM1 POGZ PEX6 TRNW PEX2 PEX10 ALMS1 ARL2BP RSPH3 GNB3 COX7B HACE1 RPL10 BBS2 KIF5A CNGA1 PDE6B NEK10 B4GAT1 PEX26 MKS1 RCBTB1 C1QTNF5 PCYT1A IDH3B DRAM2 AHI1 CCDC28B WARS2 DNAAF2 HGSNAT ARMC9 INPP5E GRM6 BEST1 TRPM1 SRD5A3 ADAM9 REEP6 LRP2 ARV1 KLHL7 POMGNT1 AHI1 ARL6 CSPP1 DNAAF4 USH1C CRPPA HK1 BBS4 KIF11 RNU4ATAC CHST6 TTC8 IFT172 TMEM138 POMK ROM1 ROM1 INPP5E RAB28 SAG TELO2 USH2A TRNT1 MKKS PRPF6 HSD17B10 CACNA2D4 PEX19 PDE6B PEX5 ODAD1 TTC8 CRB1 PNPLA6 ANK1 DHX38 CRX IFT27 PNPLA6 CACNA1F CEP290 NME8 CEP41 PGK1 PGAP1 IMPG2 CEP290 CCDC39 TUB ARL6 CDH3 SLC24A1 ND6 CFAP410 EP300 CC2D2A LZTFL1 AIPL1 WDR19 DNAAF6 PRPF31 PEX11B PRPF4 PRPH2 PEX2 RSPH4A OFD1 EXOSC3 ZMYND10 CCDC65 PRPF3 POMT1 PEX1 SEMA4A ATP6 PDE6C PRPH2 RLBP1 ACOX1 GNAT1 CRX PROM1 DAG1 NYX CLDN19 INVS PDZD7 TRNL1
Protein Mutations 1
P23H
SNP 0
HP:0000478: Abnormality of the eye
Genes 5471
MERTK SH2B1 TRNK ALDH18A1 MAGEL2 SIX2 SCN9A TIMM8A B3GLCT GNPTAB MITF NDUFS4 CFH GRID2 MEGF8 SCYL1 TREX1 RPE65 LMNA PLK4 CNKSR2 SLC25A4 PEX3 NTRK1 ATP6V1A CTNND2 ST3GAL3 ARVCF SIX3 ND1 WDR11 ANTXR1 GABRA1 SLC5A7 RREB1 TOPORS RRM2B MME LETM1 GNA11 KIF3B KCNJ13 IFT172 COG4 ELMO2 DDHD2 ANTXR1 PEX11B SPATA5 KRT10 DNAH11 PAX4 APOB RPS6KA3 GJB6 KCND3 LRAT HRAS ZIC3 POLG DCN LRRK2 BUB1B ERCC5 IL2RA FLRT3 NDUFA6 NXN DYNC2H1 TBC1D20 NEB GALK1 OPA3 NKX2-6 KCTD1 SPATA5 BRIP1 VPS13B TKFC PIK3R1 TBC1D24 CRYAB CNNM4 CNBP PNPO SEC24C CDK8 TUBB2B TYROBP TULP1 ZIC1 NUP62 B3GALT6 TWNK MBOAT7 SLC37A4 PIGA CACNA2D4 TSC1 PEX10 FOXC1 WAC TERC MYH2 GRIN2B THSD1 ADD3 EVC2 DLST FLNB KATNIP CUX1 ATP6V0A2 MDH2 TPM2 ZIC2 ITGA8 ABCB7 ATCAY C8ORF37 CACNA1F GRM1 TRIO NEK2 KRAS XYLT1 ADGRG1 KMT2A AGBL1 TAPBP SLC25A24 CNNM4 POMT2 HNRNPK TPM2 PRRT2 SPATA7 ATRX AHI1 PALB2 NRAS FOXP1 JRK GK EEF1A2 RELN CAV1 VAMP2 ARL3 MYF6 COL3A1 CBL ATP6V1E1 COL5A1 SPECC1L ADAR ACD PPP1R15B PEX12 ACVRL1 AMMECR1 ADA2 ACTL6B CDKN2B THRA ERCC8 SBDS SOX3 FANCL NDUFB11 CPLX1 EMC1 SNAI2 MKRN3-AS1 LYST PRPH2 PSAP SLC18A2 ABCA7 COX10 SLC2A1 VPS33A PSAT1 FGF9 ERF KIAA0753 TBC1D24 TTN NKX2-5 GJA1 NGLY1 RDH11 GLI2 ODAD4 MYH11 ATXN1 MAF SOX3 PCDH15 SMG9 TBX15 SDHA PREPL MKS1 TAF2 COL11A2 ATXN3 HOXA13 CCBE1 SMPD1 BTD COL12A1 RIMS1 WDR11 PIK3CA WDPCP CACNA1F LACC1 ND4 RPS19 CHRNA7 IGF2 KAT6A LAMA2 AIRE CCDC88C SCN4A DISP1 DHDDS GNAI3 CACNA2D4 GRN DOCK6 KRAS BAP1 COL1A2 MCM3AP RPE65 SLC19A3 GLI3 TSPYL1 MAG PEX13 NDUFB11 FOXC1 RBCK1 HNRNPA2B1 ZIC2 WDFY3 PSMB9 COL11A1 APOE GJA1 JAM2 TRNK MKS1 HGSNAT GABRA2 SNX10 KCNJ2 ACY1 BBS9 FKBP14 FGF8 BRAF SC5D TMEM216 SHH CNTNAP1 GRM1 SLC39A5 WT1 HACD1 CREBBP MMP2 OCA2 NODAL ATXN1 ABCC6 PORCN CEP57 PIK3R2 UBE2A RAD21 SLC5A6 MED25 VCP TUFM ADAT3 USH2A GJB2 TCTN3 PTPN22 FGF12 EPM2A TRNS2 FGFR3 CDON TIMMDC1 C1R FAM161A STRA6 DNM2 SLC6A9 SSR4 SOS1 TBC1D23 TONSL CIT TYMP MAP3K7 FGFR1 MYO6 HLA-DRB1 FRG1 UBE3A CENPE TSC2 TRIM32 PPP2R5D LRIT3 SLC2A1 EYS ATXN10 FDFT1 TUBB4B IFNG AASS SYNE2 ARL6 SLC2A1 WNT1 KLHL7 TEK ELOVL4 WDR73 TCTN2 TAB2 PCSK9 TP63 CARS1 MYSM1 RMRP SLC16A12 CHSY1 SLC24A1 DYNC2H1 NSUN2 FERMT1 TECR GDF6 DNAL1 CRYAB PEX14 RUNX2 PSAP GNB5 TSFM MEIS2 DYNC2LI1 TRNL1 POU6F2 EBP CSGALNACT1 PLD3 ELN PRCD TP63 FBN2 GBA2 ATP5F1A CABP4 NDN PEX5 SLC2A10 SPOP GBA MBD5 SHANK3 TRNK TSHR PTS GNAS FERMT1 WWOX COL2A1 GNA11 DGCR2 NCF4 PLEC ODAD2 CYTB HCCS GBA SNIP1 SUFU MTPAP DNAI1 PPP1R15B CLIP1 PSMD12 TSEN54 CPLX1 SLC9A6 FGFR2 MKKS PRDM12 ITGA3 HESX1 PIGL SDHAF1 EFEMP1 POMK MKS1 APC LCA5 DNM1L ATAD3A GLI2 RFC1 RNU4ATAC NEU1 EIF2B4 TASP1 UBA1 RAB3GAP2 TIMM50 PMS1 BBS5 HHAT FKTN ACOX2 IL17RA KRT86 C2CD3 GDF3 MCTP2 MKS1 FARS2 IGLL1 FGFR1 ODAD3 TK2 ATN1 DPAGT1 TPM3 SHH OFD1 SMOC1 NDUFA9 PDGFRB SYNE1 FBLN1 COL12A1 PUF60 RPGR PEX10 PCNT SOX10 TRIP4 IQSEC2 NR2E3 RAPSN KLC2 ADAM17 SDHB MUSK LRRC32 TMEM216 NLRP3 BRCA1 CISD2 GSS BAP1 TRNS1 NKX3-2 PEX13 CYBB GJB6 COL1A1 STAC3 COLQ CDH1 SERPINI1 CHST3 FOXH1 NDUFA2 ALX4 FGD1 NOG SNX10 COX3 BEAN1 COG8 LRRK2 CLN6 GNPTAB CTSK XPR1 HADHB NDST1 PLXND1 MFRP FOXL2 TTBK2 PCARE WAC RD3 STRA6 NDUFAF2 IL17RD FANCB B4GALNT1 SPTBN2 UNC80 FA2H GLI2 ADARB1 LRP4 CLCNKB PIGB SURF1 PAX6 CCDC141 RPGRIP1L SLC45A2 YARS2 RPL10 COL4A1 WDR26 EGFR UBA1 ABCC8 ATP2B2 PLAGL1 NDUFAF2 CCDC22 DMPK PITX2 ERCC5 COLEC11 ZFHX2 RCBTB1 HYMAI C1QBP PRRX1 SLC29A3 VCP KAT6B DNAAF2 POLR3A TDP1 POMK CCDC88A RDH12 GJB2 EED TGFBR1 SBF2 ALOX12B MDH2 NMNAT1 UBE2A FUS SRD5A3 ENG CACNA1A MAX ATP6 EYA1 PROK2 SETD2 VPS13D SLITRK6 SMARCD1 SOX2 ND5 TELO2 TSPAN12 SLC52A3 AFG3L2 JAG1 LRPAP1 SHROOM4 JAM2 TP53RK NFASC POLG PEX5 TTC8 ADA2 RIPK4 FRG1 TBC1D24 TRNN TSR2 WNT5A TET2 BMPER CACNA1F RGR OXR1 SOX9 TGFB3 TMEM67 CEP41 VLDLR COL1A1 ZNF462 CP PRRT2 GPC4 CLCN2 AVP FBN1 SDCCAG8 COX6B1 RBM10 CFAP410 FGFR2 ABCA4 BMPR1A BBS12 DPM1 TCF12 GUCA1A SCN1A HSPG2 PARN NFKB2 VHL RPGRIP1 TBX1 MOG PRPF4 NAXD CFHR1 SELENOI PRPH2 GNAS NRL AFG3L2 NHP2 GPRASP2 TGFBR3 OFD1 KRAS SPTBN4 NTNG1 OSTM1 SLC17A5 FOXP1 TRPV4 MITF PRPH2 ABCG8 COL5A2 ATP6V1A ETFA OCA2 NODAL SPRTN OPA1 PHF6 IER3IP1 TNFRSF11B GPR143 EDN3 TRNS1 IRX5 NALCN ATXN8OS PSMB4 PCNA PIGU NXN UBR1 FGFR2 PAX6 PEX6 CSPP1 COL3A1 TRNL1 ARHGAP31 NODAL UCHL1 USB1 BBIP1 RAPSN GUCA1A PITPNM3 RPGR PHF6 PUS1 PUM1 ASXL1 FGFR1 ARX PIEZO2 RLIM DTNBP1 ZNF408 TRNS2 ITPA EIF2S3 RAB3GAP2 BAP1 FZD2 ATP6V1E1 BTK SPTBN2 KCNJ6 HADHA COL11A2 MCIDAS PTEN SYNJ1 PSAT1 FGFR2 UBE3A MFRP SYNE1 BCOR EPB41L1 NAB2 HSPD1 POMT2 GJA8 FGF8 RPGR COX3 RPGRIP1 TGFBI BMP4 CPLANE1 SCN4A AP4S1 FANCD2 FGFR2 CHRND NPHP1 CEP290 MYT1L FKRP CLEC7A CC2D1A GLI3 CYP27A1 FRAS1 PMM2 PAFAH1B1 ZMPSTE24 CEP41 DLL1 CCNQ MUSK MYO9A PAX6 PTEN CLTC PRDM5 TLK2 SAG SIK3 COL11A1 ARSG SLC40A1 GJA8 ABCA12 SOX10 RPL27 TTI2 SEC23B AP4M1 BIN1 ADAR TCF3 SUMF1 SOX5 BRAT1 TWIST2 SDHAF1 COL2A1 SUFU CREBBP TBL1XR1 RGS9 SOX9 STK36 BBS4 GJA1 SCN3A DOCK6 EDNRB DIS3L2 MFAP5 PRKCG KNSTRN CDK19 PIEZO2 KMT2E SLC5A7 INPP5E BANF1 CERT1 TYRP1 EVC2 ARHGAP31 SCN4A MAPRE2 ZFPM2 COQ5 ZIC2 MITF MFN2 GUCY2D NDUFB10 PEX26 COL27A1 FGF3 COL13A1 TPRKB CHRNE ESR1 XYLT1 ERF ENPP1 MED25 NCAPG2 PNPT1 FOXH1 FLNA YWHAG SEMA3E AIP PDZD7 IKBKG CRYAB IQCB1 NAGA KIT MED13 NDP FZD4 FLNB LHX4 GNB3 INPP5E AP4S1 KATNIP TRIP11 MOCS1 TTC8 NADK2 PSAP TREX1 GRIA4 ATXN2 ND2 SMARCC2 ND5 KIF1A TUBA3D RPS6KA3 BBIP1 PLK4 FHL1 USP8 MASP1 ARHGEF2 ATF6 WDR37 NEDD4L GLI3 PEX3 DYNC1H1 TRNF LMOD3 TMEM126A MTAP TYR KIF1A TRNQ COLEC10 GCK TOMM40 KIAA0586 ZMPSTE24 RAI1 MPDU1 DRAM2 YWHAE LBR KDM6B SON AGXT TRNS1 ACBD5 OSMR SLC25A15 DMXL2 SPATA7 EPRS1 NPHP3 KCNQ3 PLK4 ASPA TRAPPC11 PRMT7 KIF14 ELN PTCH2 TGFB2 ARHGEF18 TREM2 SUMF1 GUSB DHCR7 KDM5C GRK1 GUSB KITLG KIAA0586 HADHB C12ORF57 SDHB CAMK2B GBA CACNA1A WDR36 MYH3 TBCD FGFR3 STIM1 RPL35A AKT1 GJB6 PEX5 FRMD4A STAT6 CHST3 KANSL1 PURA CFAP410 PIEZO2 SATB2 PITX2 COL4A1 PEX16 CA4 GLRX5 PAX6 ADAMTS10 CDK4 ZMPSTE24 CRX MMP14 AFF4 CLDN10 CARS2 ERCC1 SCARF2 PRPF8 CHCHD10 NPHP4 GMPPB PTCH2 LRRC8A RPL26 COG1 RMRP ACTG1 TENM3 PLEC TMEM240 EARS2 CRX KDM6A ECHS1 TWNK SLC45A1 DPM2 MAGEL2 SLC1A4 TRIP12 NUP133 TCF4 CTCF ASNS CNGB3 KCNMA1 TMEM107 GAS8 POLG ACTB TRPV4 ACTA1 MTM1 LAMB1 TRNL1 FGFR1 HECW2 TGFBR2 FKRP OTX2 MARS2 PCDH15 LRP2 CPSF1 PHF21A ZIC2 B3GALNT2 AIPL1 MC1R DDHD2 SQSTM1 SPRY4 FLVCR1 DYNC2LI1 NUBPL FA2H INSR WRN COL9A2 FGFR3 PIGN COL1A2 NDUFA10 FKBP14 UFM1 LDLR GATA4 TBX1 ADPRS POLH PRNP B3GALT6 NSMF RPGRIP1 ARID1A POMGNT1 SYT1 NSD1 KCNN3 AIFM1 REEP6 DYNC2I1 CREBBP ZFPM2 MFSD8 CDH23 PDE6D ATP6V1A TMEM231 MTFMT SLC19A3 XYLT2 UBE3B EPCAM PEX14 IL10 FGFR1 DLX5 NDUFS8 PRKAR1A MAPT GCK SDHD TINF2 FLNB NDUFB11 CFH FUCA1 RNASEH1 FOXE3 RNASEH2C SAMD9L LHX3 FH GJB1 ND4 NF1 PCDH15 KISS1 VSX1 NOP10 TRAIP DNAAF5 PEX5 LAMA1 PDHA1 SMARCE1 CRBN GNAT1 ERCC4 CACNA1F MAF EP300 MYH9 POMGNT1 CCDC22 COL1A2 COL17A1 GDF6 ADGRV1 HTRA2 STAT3 RP2 SPAST ND6 ALG8 IMPG2 SLC25A19 ATP13A2 CYP1B1 TGIF1 NEUROD2 DNAH5 ABCA4 TMEM107 TRAF3IP2 TBX1 KISS1R SSR4 ALG8 DDX3X TRNS1 NDRG1 KDSR ALG2 RIN2 RHOA TUB DNMT3A RNF13 SC5D KCNJ11 IMPG2 SLC9A7 CRYBB3 FLNA AFF4 PAX6 ALDH18A1 SUCLA2 GBA GCNT2 RAB3GAP2 TMCO1 IL23R DVL1 SMO FBXW11 IGBP1 APOA2 INS RAI1 CHAMP1 PEX12 TFAP2B PHIP HADH TUBA8 ALDH18A1 FGF8 PROKR2 FBN2 FGF10 LOXL1 ICOS TCF4 AMMECR1 OPTN DPYD ELP4 TWIST1 TIMMDC1 LMNA CDCA7 KDM5C PDE6G SDHD HIKESHI MANBA TAT TDGF1 P3H1 ALMS1 HACE1 PARS2 LRPPRC RPGRIP1L LHX4 IREB2 TERT GJB3 HOXB1 SOS1 PPP3CA NRAS CACNA1D SPATA7 WAS CASR WDR45 DHODH MOCS2 EHMT1 NF2 TCIRG1 POU1F1 DYRK1A TUBA8 NDUFS1 FAS TOP3A SAMHD1 WDR35 NSMCE3 TBC1D24 PTEN TGIF1 BEST1 DPAGT1 G6PC1 TRNK CCDC28B GTF2I TNFRSF1A CACNA1A FBN2 TPRKB TWNK HGSNAT MUSK CYP1B1 OAT GNAQ EFNB1 RIPK4 SRD5A3 FRMPD4 IFIH1 RYR1 GNAS DLX6 AMER1 SETD5 POMGNT1 CSPP1 USH1C CRPPA HK1 COX2 EIF2B1 NFIX RNU4ATAC OFD1 GPR161 WDR35 DYRK1A KIF1C EFL1 POMK FAS RNF135 CDH2 ROM1 MKS1 KIRREL3 COL9A1 TWIST2 PRF1 TRNT1 EFHC1 ESPN MKKS PRPF6 ADAMTS18 CHD3 CACNA2D4 GPR143 NRAS GREB1L ERAP1 RAB27A PACS1 SZT2 RALGAPA1 GUCY2D PTCH1 CRB1 GLI3 LYST GBA TKT FBN1 PGK1 PGAP1 TBX4 NEB MYMK NEUROD2 COL4A4 TUB BTRC MAFA CEP290 CACNA1F KLRC4 CRYBA4 P4HA2 SCAPER TRAPPC2L FAR1 MMP1 B3GALNT2 PRPF31 PIGN HSF4 HLA-DRB1 AIPL1 HLA-DRB1 COL8A2 ADAMTS2 TMEM237 RETREG1 DLK1 GM2A SFXN4 APOE CFI GNAO1 BCORL1 NTNG2 GTF2E2 CHRNA1 PEX2 GPR35 BLOC1S6 TRAPPC4 VPS11 CACNA1B MED12 CLCC1 CRPPA GRIA3 MEIS2 POMT1 MIPEP PEX1 COX3 PRPH2 COX7B PDE6C ERCC3 DYNC1I2 RLBP1 ACOX1 RNU4ATAC ERCC2 KCNAB2 FGF17 CTNS SETX DAG1 ANGPTL6 CD19 TRIO NYX PLEC POLH ERCC5 EDNRB GALNS CEL FGFR3 CHCHD10 TGFBI ADAM17 TET2 NAA10 EZR SF3B1 GABRB1 KMT2D ABCA12 BBS2 LRP5 UBR1 EEF1A2 PEX3 FEZF1 COL7A1 SEM1 HSPG2 ACTB ERCC6 TWIST1 SLC2A1 TRNK SOST SBF1 NDUFAF4 C12ORF57 GTF2IRD1 TGFBI AGK KRAS PIGY GRK1 TGFBR2 POLR1C RASA2 APC PHGDH SLC25A24 NGLY1 GNAS LARP7 STAG1 CCND2 FANCM RPL10 CDKN2A PRSS56 ANO10 CTNS NELFA FDXR NLRP3 KCNJ11 PIK3C2A GLI1 STXBP1 CTCF PAX2 REPS1 LRP5 TCF4 CFHR3 POLG DAB1 SHPK HLA-DPA1 TMEM43 SETBP1 PRPH2 ZIC1 LMNA RIT1 ADAM22 CEP164 ATP6 SLC30A9 FKRP PURA CYP27A1 ATG5 TRAF3IP2 SIM1 L2HGDH VPS13C ROBO3 SDHA ZEB1 NF1 LAMB2 TCTN2 CNGB3 ADAMTSL4 ACTL6B TREX1 ABCC6 STT3B PEX1 PMPCA COL11A1 HSPG2 KLF11 CNGA3 BEST1 SLC19A2 CYP1B1 COL3A1 KIF7 ZNF408 CD96 SATB2 CYBA ERCC8 POC1B CFL2 GLIS3 DLD MYH8 SCAPER PEX2 VPS11 SUZ12 FOXH1 SURF1 ATOH7 SERAC1 DICER1 HRAS RNR1 TSC1 ACER3 FGFR1 TRMT10A KIAA0586 NIPBL NEUROD1 ARX SLC1A2 MBD5 PANK2 PITX2 WDR19 PQBP1 ATP6 SOST FREM1 PTRH2 KMT2A COL11A1 GAS1 GMNN TRNW B4GAT1 GDNF CTLA4 TUBB3 PDE4D ADAMTS3 GLB1 SOX10 CRYGS ERCC3 HLA-B COL5A1 CBS KDM5B COG8 FGFR2 ISCA1 LIG4 RNU4ATAC TTC21B PDXK CLN3 FKTN MIR184 DPM1 CHRNB1 ADA2 KCNJ1 FGFR1 ASPA VPS51 ERCC2 DISP1 LSS NLRP3 TMEM98 PTPN2 HARS1 FGFR2 COQ2 SPECC1L STS PITX2 ARL6IP6 GALC COL11A2 MBTPS2 ND5 LIG4 GLE1 MAP3K20 FOXE3 RNF216 SH3BP2 PDGFB RYR1 SDHAF2 CENPJ PDYN FAS PRKAR1A RLBP1 SIX6 RTTN TCIRG1 LIFR PSEN2 CACNG2 NFIX RFT1 GORAB SDHD SLC35A2 FGF8 CCDC40 POMT2 PPIB MMADHC DPYD HBA2 ARSA WDR4 ESCO2 GJB4 TPP1 ITGA2B KIF1B BEST1 ROBO1 GTPBP2 PRIMPOL RP2 TBC1D7 SLC52A2 BBS9 ARNT2 PAX6 HTRA2 KCND3 GTPBP3 AUH FGF8 CDH23 SNRPN SLC45A1 MYOC COL6A3 MAG ADSL COL2A1 ATP5MK MAX LONP1 SAMD12 CISD2 RYR1 PEX26 DCPS HTT MME ERCC8 UNC80 PGAP3 ACADSB PITX3 GJC2 WDR81 PTDSS1 SLC44A1 STIM1 CCND1 AHCY FANCC POLR3A IFT52 SKIV2L CYTB PROM1 MAF TRPM3 ALG3 SNAI2 TUBGCP4 FOXJ1 CYP7B1 NPC1 FANCI NDUFS2 NDUFS1 LDLRAP1 GPR179 PROM1 TFAP2B PEX6 CFAP298 ITPR1 CSTA SELENON TRIM28 HTT ZIC2 KLHL7 NPC2 TBX22 ALMS1 DOK7 PREPL HTT AGRN FGF8 CERKL KDM6A LAMP2 FOXE3 B9D1 MAFB NDUFS2 PEX14 LEMD3 FGF20 SYNGAP1 DNASE1L3 LRIT3 GRM1 CCDC141 FANCA MYO7A P4HB PINK1 RDH5 OTX2 HNF1A ZNHIT3 FBXW11 MAN2B1 OGT SCN2A PTCH1 TPM3 MGME1 TTC21B STUB1 EPG5 L1CAM GAS2L2 PPP1CB PDE6H TP63 ZBTB18 ADGRV1 CBL IFT43 CWC27 PRKN MITF COL1A1 POLG2 IL17RC GNAQ ALG11 SMARCA4 PMPCB HPS5 COL4A5 NFIX ANAPC1 PRKG1 L1CAM ATAD3A CRYBA4 DKK1 BRAF IFT172 FMR1 VAMP1 TNFRSF11B DDX59 PAH IQCB1 ANKH CAMK2B WRN ATP2B3 NDUFB9 TWNK PROKR2 PLPBP DGUOK CDH23 FGFR3 TGM6 CHRND LRP5 APC EPHA2 SLC2A1 WDR73 CLRN1 CTNNB1 RET FGF3 JMJD1C RSRC1 KCTD7 GLI2 BUB1 CHP1 GMPPB GALT SHROOM4 NRXN1 COQ7 OCLN GEMIN4 TMEM237 TNIK TBX1 WDR19 RRM2B PEX12 FKRP DNAI1 RLBP1 HCCS COL11A1 IFT140 SPTBN2 MYH3 FOXA2 PNKP MPLKIP PROS1 LZTR1 SOS2 TIMM50 NDUFS2 LMNA TPI1 SMCHD1 GNA14 MADD FGF14 HSD17B4 GCDH PEPD ARSL MYT1L MYO18B CPLANE1 BMP4 GTPBP3 ZBTB24 DARS1 DOK7 CNOT1 PTCH1 DARS2 CLCN7 DSG4 SOX10 OPN1MW CDKL5 RPS10 COL9A3 TANGO2 PDE6C NDUFS2 PIGO MAP3K7 COL4A1 RP1 TMEM216 CRYGC RBBP8 BPTF GNB1 SLC6A19 FAS TBCE SMARCB1 PLP1 DPP6 SOX10 BRCA2 CRYAA ARX GDF3 RNF113A BRAF RAF1 PRSS12 FASLG FAM111B POMGNT1 DNAJC19 PYCR1 TAF1 KRT83 DOCK7 RDH12 EYS DEAF1 PLA2G6 LMNA ADGRG1 PSMD12 SCN8A TK2 ATP6AP1 EMC1 PEX6 POGZ PLG CHRNA1 IMPDH1 FREM2 ATP2B3 TYMP FGFR2 CHRNB1 ESCO2 LONP1 TGFBR1 CDHR1 POLG ERF TMEM127 ARSA MBTPS2 MACF1 SETBP1 MAFB ACTA1 SNRNP200 ERLIN2 RRM2B PRRX1 CPLANE1 PEX6 WDR45B CST3 SLX4 TP53 MPDU1 ARL2BP DNMT3B RECQL4 ATR FBLN5 LEMD3 FGFR2 CACNA1A GABRD ACTA1 HTT PDE6B EHMT1 NEK10 ABCG5 RAB11B RPL5 MKS1 DOCK3 SMS TFAP2A RPS24 LARS2 TP63 RPL35A FGFR2 RET COQ2 GDF6 ARL13B IDH3B SHH MGME1 ASAH1 NOTCH2 HNRNPH2 UBE2T CENPE ERCC3 CHRNG ATRX CACNA1A PRPF3 SMS ERCC6 ACTL6B TYR MED13L RUNX2 KCNQ1 NHS MARK3 NR2F1 MRE11 POMT1 JAG1 LTBP2 ARV1 RECQL4 PTF1A SLC1A3 DNAJC19 TDGF1 ATP13A2 SACS BBS4 PAX3 TRAPPC12 PEX5 MYOD1 RAI1 NDUFS2 NR2E3 IFT52 PCARE MAK ALG14 CRB1 STXBP1 ZEB2 KDM5B PIGO MAP2K1 PIBF1 SCN1A PAX6 ERCC4 ERBB3 INPP5E SIX3 NALCN OCRL SAG ND4 TWIST1 TEK CENPF PAX3 PEX16 PDX1 DUX4 PEX19 FLNA CTNS MC1R DIS3L2 CEP152 RAPSN RAB11A DLL1 MASP1 CDON MICOS13 PROM1 DHX38 SHH TPM3 CPT2 MSTO1 PIGG H19-ICR TBCK MTRR MYL2 ITGB6 FOXC1 GFM1 NR2E3 COL18A1 SLC24A1 KIF1A RRAS2 TGFBI NF1 TCF12 LCAT PRPF6 NARS2 AGK DNAAF6 PIGS RSRC1 RAB28 SPG7 RNF125 AHDC1 PQBP1 BIN1 FANCA NOTCH3 IGF2 EDNRA FOXE3 PABPN1 GP1BA BLNK PRPF3 EDNRB KAT6A AAAS SEMA4A WDPCP ITPR1 AGTPBP1 PDSS2 PRKAR1A AUTS2 CYTB ROBO3 SALL1 SERPING1 UCHL1 KCNC3 CLDN19 ABCD1 PYCR1 SEC24D OCA2 CYP24A1 TGIF1 BAP1 GUCY2D DNAH1 GNE FAT4 PCYT2 ACADS NSUN2 MYH11 TRIM44 INSR ERCC6 PAFAH1B1 MCM5 CYP1B1 ARID1B ARL3 GABRG2 PDE6A PITX2 HACE1 NUTM2B-AS1 MRPS34 SHH PLOD1 MED13 GJC2 NOG AKT1 TTR IFT140 PEPD FBN1 GALT RBP3 SCO2 UNC119 NEB CACNA1G PNPT1 AIMP1 GAN TAT DYNC2I1 MFN2 ZNF423 MPZ RAB3GAP1 NDN RAD51C AP3B2 LARGE1 MPV17 PRDX1 COL6A1 HPS3 REST LMOD3 CDH3 TGFBR2 FKRP ABHD12 MTR MICU1 GPAA1 TAZ IFT140 PDE6H KLHL41 RSPO2 HIRA ACTG1 PAX6 DRC1 SVBP HOXA1 BAP1 COX1 CSPP1 PEX3 ELN MGMT ARSB MEF2C PET100 ACTB SEPTIN9 FLVCR1 ND2 KLHL41 USP9X IMPG1 ND4 PTPN22 SLC39A13 MAPKAPK3 COLQ TTR MAFB SLC9A1 SPEG VSX1 RPL11 BEST1 CRYBB1 GABRB2 PCK1 NOTCH2NLC AKT3 PTPN11 TRNL1 RP9 FRRS1L TMEM67 OPHN1 GALK1 RHO LDHD POLR1D TDGF1 C8ORF37 TNFRSF13C GLA PDGFRB ACTA1 RPL15 TULP1 NF1 MED13L RARS1 DAG1 RAX RUBCN AGL DDC LTBP2 UROC1 NUS1 DENND5A TUBB SLC52A3 ZNF513 GALC RNF13 PAX6 XRCC4 TOE1 BBS10 KRAS SLC25A4 NDUFA11 TMTC3 GSN GSR SLC35C1 ALDH18A1 ARX VPS13A NHP2 AHSG CLCN7 FRAS1 NDUFA12 CYSLTR2 KLHL40 ECEL1 AMPD2 CEP55 ATP13A2 SNRPN TGFB1 CRB1 FGF17 DARS2 FGFR1 IGF1 PDP1 SMAD4 DNM1L SSBP1 UBE3A FGFR1 AFG3L2 MTM1 ZNF469 POMGNT2 JAM3 ND1 POC1B KMT2D DLG3 SOS2 TBCK SLC19A2 ND5 FOXRED1 MICOS13 CSPP1 HMGB3 DCHS1 PCSK9 ZSWIM6 GATA3 MEGF8 DCHS1 ZEB2 PHOX2A CHN1 GLE1 PIK3R2 RPL18 COL2A1 MYF5 PAX6 COL1A1 HTRA1 AP1B1 ITM2B PGK1 GUCY2D CHRNG RAC1 KIF15 NUP88 MFRP FIG4 SLC20A2 BIN1 TNF PLP1 TYR FLNA SYNE1 KIF7 TRAF3IP1 PDHA1 DNAH9 TMEM231 BEAN1 GLA FANCL GMPPB MBTPS2 NSD2 HS6ST1 DPF2 USH1G ITGA2 MAN2B1 CEP104 RIC1 IMPDH1 FLNA PIK3CA RBP4 ELMO2 LRP5 KIF1B PTCH1 LRP5 RBP4 MMP2 LMNA NHLRC1 IL2RB NLRP3 CHD4 TRPV4 WASHC4 FMR1 USP8 GJC2 CDON RNASEH2A TNFSF4 TEAD1 ODC1 POLR3A TWIST1 MMP1 NDUFA4 CDCA7 ND1 IDUA STS VSX2 COG4 SLC25A1 TP63 GSC MPC1 ANOS1 PEX7 SLC4A11 TBCD PDZD7 POLR3A IBA57 LCAT OPN1MW USH1G ALDH5A1 COX8A PYCR2 DYNC2I2 DNAJC6 PRPH2 SCP2 DISP1 TCTN2 PPP1CB FGFR1 TSC2 ACTA2 NOVA2 TRNP NIPAL4 MAPK1 IFNG NDUFS3 PHYH RPS28 HRAS FASTKD2 TCF20 WDR11 DNM2 ERCC5 FOXE3 PANK2 NLRP3 C12ORF65 RAI1 SCN9A BMP1 OCA2 FLCN DNAJC13 ALG11 BCAP31 RPS20 ARNT2 RAD21 ZEB1 LYST NDUFA11 RARB CD19 SNRPN APOA1 IMPG1 GATA1 PEX7 SLC25A1 NALCN PEX11B SLC39A8 NEK2 ATM LMX1B PTRH2 APOE TUBB2B POMT2 CANT1 STAC3 NKX6-2 COL7A1 TGM3 RECQL4 NDUFS6 IGSF3 GUCA1A TOR1A B9D2 PAX6 SCO2 ZBTB20 CSNK2B EVC HERC1 DNM1L TAC3 PANK2 SDCCAG8 FANCE TMEM98 TGFB1 ATRIP MTOR RFC2 ATXN3 GATA4 IMPDH1 MN1 LRAT ELOVL4 VWA3B NDUFAF5 RRM2B RAX2 PAX7 CCDC103 MPLKIP PDE6B NPHP1 FLT1 SIX3 TWNK LIPH SOX10 SMPD1 PRUNE1 B9D2 SERPINC1 HPS4 ZNF644 PTH1R LRP4 SRCAP ATM CRYGB KRIT1 SH3PXD2B BDNF SZT2 IQCB1 GNAT2 CLN8 CLCN7 TRIP13 DNA2 COL18A1 MST1 FKBP10 RPS6KA3 MMACHC WFS1 ALDOA MYOC OPA1 NDUFV1 NUP62 NOP10 SMC1A FLRT1 CABP4 TRAF3IP1 MED12 MTMR14 COG6 TRNQ BCL11B PRDM16 TSEN34 EDC3 UBE3A IVNS1ABP STOX1 ASAH1 ADGRG1 LAMB2 ACTL6A C8ORF37 NDUFS7 OVOL2 SMAD3 UBE3A NUBPL ERCC2 RTN4IP1 COL4A1 MFN2 PRKD1 PTPN23 CACNB4 TUBGCP2 LARGE1 HADHA ALX4 ACTA1 NDUFB3 SYNJ1 EIF4G1 NUP133 ACTA1 LRP4 RERE MAD2L2 CLRN1 PNPLA6 TMEM237 ASPA DDX58 POR DCC EOGT VHL POMT2 MTFMT SLC25A4 CHAT POLR1C IBA57 SLC25A46 SDHC SEC31A TLR4 TUBB3 APTX RSPH3 IMPG2 COX7B CYBC1 KCNH1 BBS2 MYT1L HBB PDHA1 SRCAP GAS1 CSF1R ALX1 CRB1 COQ8A ZMPSTE24 AP4E1 ANOS1 WNT10B SMARCE1 SET CIB2 BCOR TMEM106B PEX6 WARS2 EBF3 STAT4 LMX1B SMAD3 HDAC6 GTF2H5 TRNV LRP2 OPA1 PIGC NSMF UBA5 DNAAF4 MYH3 UBAC2 MAP2K1 THOC6 PTPN22 CHST6 BIRC3 COL4A3 TTC8 SCN1B PARS2 TMEM138 CD27 BMPR1A ALX4 TGFBI ALKBH8 LRP4 PLCD1 HK1 NSMCE2 MITF CACNB4 DHCR24 BFSP2 BNC2 SLC16A2 SNAP29 RECQL4 THOC6 TRMT1 PNPLA6 ENTPD1 PRPS1 ATF6 AKT1 JAG1 RERE RSPRY1 WDR81 TP53RK PABPN1 C2CD3 ND5 APC NFIX ATXN7 NDNF B9D1 ICOS GFM2 SARDH ND6 HLA-B PRKAR1A DDOST KCNJ18 MAGEL2 KIDINS220 ZIC1 MRE11 COL2A1 GMPPB NF1 MAP3K7 UBAP1 SLC24A5 SETBP1 PRPF31 CRB1 RPS29 CEP78 RAX2 NODAL GRM7 LRBA POU1F1 PYCR1 ATP6 ACO2 WT1 RDH12 PMP22 PLP1 PYCR2 RSPH4A FBN1 FUS PROKR2 TREM2 NAGA GNAS RHO ATP6V1B2 RET ABCC9 HSD11B2 WASHC5 TCTN2 GGT1 TMEM67 C8ORF37 SLC39A13 ADAMTSL4 VPS33A HNRNPDL AP1S2 DPF2 CRYAA CHAT GALM PIGQ INS FGF12 CACNB4 SDHA MVK SMARCB1 COL2A1 RPS7 PDHX DNAAF1 BEST1 PRCD CACNA1G TRAPPC11 TCOF1 ALG9 TRNC POMGNT1 PAX6 CHAMP1 OFD1 TERT CEP164 BRAF ALDH18A1 PSAT1 KERA PPP2R1A SLC2A10 RPS15A EFHC1 CNTN2 PTF1A MALT1 HPGD OCA2 ALG14 TUBB4A ITM2B FBXO11 ATXN10 DEGS1 P4HB MAFB PAX3 DSE ERMARD FOXC1 AP4B1 GATA6 PEX6 PLP1 DNM1L FKTN RFC1 KCNH1 AARS1 LARGE1 CDC45 SNAI2 PCNT FOXH1 PEX11B MTTP ESPN IDH3A ANKRD11 CAPN1 COL1A2 TARS1 PEX1 KNL1 CEP290 GLRX5 TONSL BRSK2 BRAF ADNP RAB18 FGFR3 ERCC1 UROS RLBP1 EXT2 TBX1 SMCHD1 PIK3CA HCN1 TBC1D20 PCYT1A GCH1 RS1 GATA6 FANCG GHR RP9 NDUFV2 GMPPA MAB21L1 FAR1 ADAMTSL1 ITPR1 ND6 PRMT7 DNMT3A SIN3A FLNB THPO NOD2 SLC12A6 WASHC5 TMEM63A FOXC2 NSMCE2 STAG1 GJA1 PITX3 ACTA2 TPP1 PIGT VPS13B PHGDH NRL PRKCD HYLS1 SUFU TTC19 PTCH1 FGFR1 FLNB TRRAP CFAP300 KMT2E GDF1 IRF2BPL RRM2B GUCY2D MTO1 IFT27 INTS1 PEX19 ASPM MAP2K2 PPP1R17 SMC3 MYO5A COL25A1 PEX26 SQSTM1 ZMYND11 CNGB3 SPOP AMACR STX11 SDHA MED25 SNORD115-1 MADD TTLL5 PPP2R5D MAN1B1 KCNB1 ALOXE3 RAB23 ALDOB FA2H PEX16 FAN1 TKT NTRK2 RAB3GAP2 CRYGC HRAS SPINT2 RDH11 MVK FMR1 GALNT3 ATXN8 PRPH2 PDYN KIAA0753 SCO2 SOX2 ATP8 PUF60 CLCN4 ELP1 NTF4 FGFR2 AGA TAF1 BEST1 NLRP3 DHX37 FANCF PWRN1 FBN1 COL11A1 PPP3CA APPL1 INTS8 PNKP IFT80 PEX1 FLI1 CIB2 SLC29A3 DLL4 CACNA1E IMPDH1 MBTPS2 NT5C2 POLG EIF2S3 KRAS IFT140 SIX3 AP1S2 PEX7 TCTN3 SOX10 OVOL2 SMARCB1 TRNN DLAT DCX LHX4 BTK ERMARD CEP120 MSH6 USH1C NOTCH3 KRAS CC2D2A NIN RSPH1 CCBE1 GK LIM2 TDRD7 SLC45A2 CDC42 FREM1 ERCC2 LAMA2 SACS FLNA KCNMA1 OPN1LW MED23 CAMTA1 TCOF1 AHR NTRK1 EIF2B3 PAK1 SYT14 POMT2 RYR1 SYNGAP1 TMEM107 WWOX HSPD1 NOTCH2 SKI SEC23A AIPL1 MRPS14 GALNT2 CEP41 CDH23 SLC9A6 EZH2 SYT1 ECHS1 IDUA DLL1 ND1 RNF113A RERE FLNA CST6 CASK SLC6A8 DGCR6 TTC7A UROS INTU CKAP2L EDNRB NLRP1 GIPC1 DEAF1 IFT81 ABCD4 EPHX2 PLA2G6 COG4 SPRED1 EED SIK1 ETHE1 RPS19 IL12A-AS1 ARSG ENG SLC13A5 SLC24A5 ZNF408 HYLS1 NPM1 DGUOK ADAMTS17 CHMP4B NDUFS4 MC1R UGP2 WAC TACO1 RB1 GPKOW GNAT2 C19ORF12 ANO10 RPGRIP1 ATP8A2 CNGB1 THG1L APC SAR1B KMT2B SLC18A3 PHYH DSE PEX1 RPGR RPGR TCF20 TYR EXOSC9 GALC GRHL2 TUBB RET NLRP3 ALDH3A2 DHX38 COG4 IFT80 FGFR3 SORL1 FXN MKS1 DDOST AUTS2 WFS1 VHL POMT2 PMM2 COL4A3 BRAF IDUA PRPH2 SIGMAR1 TWIST2 RPGRIP1L RPIA CHSY1 TUBGCP6 FBN1 OPA1 SLC29A3 CNTNAP2 CAPN5 AIPL1 CTSA CHRNA7 MMUT FANCE MPL CHRDL1 COL7A1 ZMPSTE24 MYOD1 NDUFS6 HIBCH SRC ERF ZEB2 XPA CNGA3 MAN1B1 NEK1 BCAP31 ATRX SYNJ1 SEMA4A INPP5K ENG LOXL3 KIAA0586 SYNGAP1 CCNQ AP1S2 NDP COLEC11 DCTN1 TP53 AGA LAMC2 PRPH2 CRYBB2 IL17F GNPAT CEP104 FANCC SNCA LMNA SLC6A20 CLRN1 BLK ZNF592 OPN1MW UNC45B ALG2 TWNK COQ2 ATP7B NCF1 ABCA4 TAF2 RIT1 GUCY2D KIZ DPAGT1 PYROXD1 TBC1D24 HERC1 TTC37 LTBP4 MLX COL1A2 MESD CNGA3 SMAD3 FAM126A MAGEL2 NSD1 NPHP1 ERCC5 FOXRED1 RHO PLA2G6 ELOVL5 PEX16 KRT12 GHR AP4M1 DDX11 CDH3 BUB1B GDF2 INSR HLA-DRB1 NDUFA1 CLCN4 CRX BRPF1 DNMT3A NEU1 ATIC COL11A1 MIP SLC6A8 SRD5A3 PROM1 KIF1A RBP3 GFPT1 GPIHBP1 DNMT3B CYB5R3 PARK7 GRIN1 PTPN11 EDN1 AGK NDUFV2 IFT43 USF3 FGFR2 ACVRL1 GFPT1 FLNA MTTP LARP7 OTX2 CC2D2A BCL11B PRKCG GRID2 CLCN7 GHR CPAMD8 SLC36A2 FBN1 NUP188 NDUFAF3 CRIPT PCYT1A PEX2 PEX10 ETFB RNU4ATAC PUS7 PSEN1 KRT74 ERCC6 STX16 IBA57 SMAD4 SLC25A13 LRP1 TRAPPC9 AHI1 RPL31 SUOX ELOVL4 IQSEC1 DOCK8 NAXE GABRB2 PIK3CA TPM2 DOCK7 CNGA1 BRCA2 TUBB6 CHST6 GAS1 PSAP SLC33A1 PNKD PTCH1 STAT3 TMEM67 ZFYVE26 KBTBD13 TREX1 DRAM2 AHI1 PI4KA ARMC9 INPP5E BEST1 TMEM126B MAP2K2 RXYLT1 TRAK1 RYR1 FUT8 PEX12 ASXL2 KIF11 GP1BB MSL3 HADHA TERF2IP TSEN2 B9D1 CD247 CHN1 SH3BP2 HNRNPK FGF5 TRAPPC11 FREM2 IFT172 HIBCH PIGY TGIF1 CHRNE HELLS IDS BPNT2 SERPINH1 SELENON MAPT ALX3 ABCA4 HHAT ATAD3A GATA4 NUP107 TBX1 TDGF1 ADNP CA4 GLI2 PDE6B PGAP1 CA8 CTNS SIX3 GTF2E2 ATN1 BLOC1S3 OPA3 LAGE3 COL9A1 CHD7 POLR1C GALC TCF4 WWOX CEP290 TNFRSF11A FH ABCA2 ATRX FOXC2 ZBTB18 NKX2-6 RPE65 EGR2 TFG GLB1 ORC1 CC2D2A KRT3 FGFR2 MYH3 GFPT1 HSD3B7 GATAD2B MED12L ALDH18A1 PEX11B SDHD DVL3 DAB1 WFS1 GPC3 ALG9 CFAP410 PAX6 PRPS1 ZMYND10 CRYBB1 TUBGCP6 ANKRD11 DLX4 MYO7A GFER MICU1 SMPD1 CNGB3 HLA-A TMEM231 ROR2 PROM1 GP1BA SMAD4 KDM6A CLPB AFG3L2 GLI2 NONO OPN1LW INVS FANCG CLCN7 WDR45 CNBP SUFU RHO NODAL TCF4 ND6 GNE MEN1 LRRC56 VPS35 DHCR7 DHX30 WARS2 NDE1 WNT10A SLC7A14 NECAP1 GSN RP1 NEB TBCE POMT1 TACR3 ARID2 BBS1 ZNF513 RBP3 CNGB1 RRM2B SETD5 HNF4A CHRNE STIM1 ZNF335 ATP13A2 PEX3 VSX1 PRPF8 AMACR GATA1 CTBP1 BTNL2 UROC1 KDM1A MAK RYR1 SNX14 CHST3 HUWE1 SOX4 SAG ERCC6 ANKH COL8A2 BBS10 VARS1 TMEM67 SUFU CRTAP PSAP PEX13 GAS1 B3GLCT SLC4A11 PODXL NEFL ABCC8 ADAMTS10 SEMA4A ELN ALDH18A1 CAMTA1 PIK3R1 GATA5 RTL1 GP1BB PDGFRB TCIRG1 ATP1A3 GABRD TPM2 EMD SCO2 CDH1 LARGE1 ASB10 IKBKG MLPH FUCA1 PAH SPAG1 KIDINS220 ARID1B PDHB RXYLT1 ARL3 ND4L RUBCN TGFBR1 NDUFAF5 NOTCH1 PMS2 SEMA5A P4HTM NDUFS8 CDON RDH5 DLG4 RARS1 TYRP1 CA2 RBBP8 HESX1 CC2D2A PDGFRB KIF7 CEP83 TK2 TGM5 CAMK2A NPAP1 FAM20C TCTN3 MYH8 ESCO2 PITPNM3 BCS1L IFT88 CITED2 ADAMTSL4 NDUFB11 SLC38A8 ZC4H2 TWIST2 PLA2G6 CRB1 INPPL1 KRAS CYTB PNPLA6 AP5Z1 PHOX2B KIZ P3H2 RPGR OPA3 GRIP1 FANCD2 TMEM67 FAT4 USP7 IFIH1 COL13A1 GPC4 GORAB H19-ICR SMARCAL1 NAGA PUS3 SLC2A1 CAPN1 CEP290 PEX26 EEF2 ZNHIT3 SNAP25 PDCD10 GFER ZMYND11 DISP1 HYDIN SPRY4 MAP2K2 ATP1A3 KCNH1 FGD1 CHM DNA2 CLDN19 CDK13 CTC1 CHRNB1 AP4E1 KCNC3 PDSS1 PRTN3 ARID1A SLC6A3 XYLT2 RNF216 CEP78 RSPRY1 TRNS1 SDHD DNMT3A GMPPA ABCD1 ATP1A2 RRAS TAP1 SALL4 SKIV2L PDGFRB FANCI RIMS1 SCN4A DDR2 ND4L IFIH1 ANKRD55 NRXN1 PRDM5 PHACTR1 FGFRL1 DPH1 RNASET2 APOE FBXO7 C8ORF37 UGT1A1 AP3D1 XYLT1 ADAMTS3 ALS2 SALL4 BRCC3 ABCA1 CDK10 CTNND1 ZC4H2 HMX1 ALDH7A1 AAAS CAMK2A PANK2 C4A ACO2 DNAJC21 DIAPH1 SH2B1 LAMC3 SNRPN FRMD4A DNAI2 PNPLA6 HNMT TBC1D24 PEX1 DNMT1 HDAC8 NHS ATXN8 LGI4 GRIN2D MFF CRYBA1 TRNE BCL10 TNFAIP3 ERCC2 JRK FKTN LRRC8A OPA1 RAG2 GBA SMARCA4 OPN1SW GM2A MSH2 MMACHC MIF BRIP1 HLA-DQB1 TRIM32 GMPPB SLC35A1 USH2A AMER1 XYLT2 KIF7 LBR NOP56 ELOVL5 KCNJ13 PTPN22 KIF5A CEP57 PPT1 FGFR2 PLEKHG2 SDHB TRNF THOC2 TMEM138 SDCCAG8 NUS1 SOX5 PCNA ZNF469 CDKN1C CEP120 IL6ST TBL1XR1 TRAPPC12 DNM1 RNASEH1 FANCB SMARCD1 KAT8 TUSC3 BTK SDHB TTN ALG13 TMEM231 PLAA PTH OFD1 TET3 KLHL7 CDON PTPN11 TXNL4A PHGDH LRP5 FLNA PAX1 KLC2 ABHD5 WDR26 DVL3 AEBP1 RYR1 PDE6G CDHR1 HS6ST2 STRADA PSMD12 CACNA1A H1-4 TBX15 CLN5 ANAPC1 ASXL3 PWAR1 LONP1 OPN1LW AGRN ERCC4 VSX2 SCN8A ATP6 COL8A2 LAMB2 FAM111A FBN1 CLRN1 PEX16 NIPBL KCNV2 SMAD4 TPM2 LIPT1 SLCO2A1 NOTCH3 CD109 RPE65 TBR1 NPHP4 TRNT1 ZIC1 OAT COQ2 ARSA MID2 CD79B KLHL40 CACNA1G MMP14 MED12 TGDS CCDC47 ND2 SLC6A19 ADAT3 SNCA EIF2AK3 RPS17 APC2 TRAF7 FGF14 KIF7 IFT122 TNFRSF1A MAPT GJA1 TACSTD2 CRLF1 CLCN7 YARS2 TBX1 SMC1A PIEZO2 VAMP1 FBXO31 TMEM237 NDUFS7 PDGFB ABCA4 TBX1 ERCC6 AKT1 ATRX EFEMP2 TTLL5 PGAP3 TULP1 DONSON ABL1 COL2A1 PIK3CA COPB2 ATXN2 REV3L TARDBP SPG11 EHMT1 ATP1A2 DNAJC12 CTNS SDHD TRNF NCF2 WASF1 NDUFAF5 SYNJ1 FOXP1 TMCO1 KDM1A SDHB NDUFS1 PPP2R3C NSD2 VAMP1 TRNW LAMA3 PEX19 TUBG1 TRPV3 FH B3GALT6 CLCNKB GPR143 C8ORF37 RGS9BP ATP6V1A MPDZ NOG BBS1 NADK2 RIPK4 MERTK ARV1 KCNJ13 GUCA1B MPZ COL2A1 TGFBI WDR35 FAM149B1 TRAPPC9 GNAT2 COL1A1 HESX1 NEFL SLC18A2 MBTPS2 COL18A1 LSS TMEM240 IDS TRIM28 WDPCP CD79A PIK3R1 FGFR1 PIGP HNRNPU SHH HPS6 ALS2 RPGR FTL ASXL3 MAP2K1 PDE6A TRAPPC6B CTSA EIF2B2 FOXC1 EPS15L1 TFAP2A COX2 CCDC174 COQ2 OFD1 ND6 POLG TSC2 FAM20C PRSS56 GRIK2 SNRPN WHRN NDP STT3B TENT5A COL3A1 SNAI2 VARS2 TRPM1 POGZ POMGNT1 TCTN3 GLI3 SREBF1 SMARCE1 WDR19 POU3F4 GIGYF2 SIX6 GZF1 SEMA3A SOBP KIF5A ACOX1 MVK SDHA NDP B4GAT1 CNGA1 PEX26 GNB1 LAGE3 FGFR3 NF2 PURA LRP4 HEXA TP53 HPS1 CLP1 GDF5 FBN1 PCLO ABCC8 SCN2A PDE6D NKX2-5 ELOVL4 TBC1D24 FBLN5 GUCA1B MYO9A CYFIP2 KCNA2 LMAN2L TMEM127 CLPB COL13A1 RNASEH2C CHM ZFHX4 TWNK OSGEP AHI1 ZSWIM6 CCR1 HADHA POR MED12L XYLT1 PNPLA1 PEX2 CRYBA2 VANGL2 SKI RAD51 RAB28 DUSP6 DHDDS USH2A NDUFA9 SYNE1 HYLS1 NPHP1 CHRND PDE6C XRCC2 FGFR1 FSCN2 VHL ERCC6 FARSB FCSK PMPCA ODAD1 GDAP2 ANK1 NIN JAK2 SLC3A1 CRX GDF3 VAX1 PNPLA6 NME8 AHR SLC25A22 LETM1 SIPA1L3 NLRP1 AGRN CLN8 HERC2 AIFM1 RFWD3 XPA MBTPS2 GPC4 ITGA8 ATIC GNAQ GNAS ERCC8 CA2 LEMD2 PRKAR1A ALDH6A1 PROKR2 MLXIPL FMN2 TRIM44 LZTR1 KRT25 WDR19 ALG12 CHMP1A SLC52A2 MIR140 MEG3 WDR48 GUCY2D STS NDUFAF8 LMOD3 FLCN MPZ BAZ1B RNU12 TXN2 CRADD WT1 KIFBP TANGO2 MID1 GRIN1 XPC CDHR1 PRSS12 CRX TGFB3 PRNP SOST SPR PAH CTSH COL11A1 CTBP1 PDZD7 DISP1 ANKLE2 TRNL1 UBE3B LCAT CDKL5 SPG11 MAT2A FIBP TNFSF11 NOTCH2NLC SLC16A2 PET100 LMNA PROK2 ABCA4 KCNA1 CLTC BPTF MAGEL2 IQSEC2 KIF21A PROC IARS2 CHD7 KIF2A LPAR6 NHLRC2 SAG PGAP2 NAGA PUF60 PIKFYVE ZIC1 MECP2 CEP85L CTNNB1 SDHD RSPH9 PACS1 MYORG NAA10 GGCX MTPAP ND1 ATP1A3 PIK3CD TGM1 ARSA ATXN3 USP9X GABRG2 AIMP1 CACNA1F ATP10A MSX2 CCNK COL2A1 PIEZO2 NDN GJA5 STN1 GPC1 DOK7 PROKR2 EBP KCNA1 ARHGDIA GNPTAB NLRP3 CFAP221 GJB2 TP63 NACC1 AP1S1 NYX TBK1 HBA1 CERKL PHGDH CTNNB1 RAC3 ATP6V0A2 MYO5A MORC2 OFD1 APOB FDX2 PEX10 HARS1 TNFRSF13B POLG2 MEF2C FIG4 DDX59 COL7A1 NSD1 TH ATN1 MTHFR HLA-DPB1 CHRNA1 RYR1 KIT GABRA5 PRPH2 BRF1 SLC25A20 MAPRE2 AKT1 RRAS2 MEN1 COX7B CEP290 MTHFR CCDC115 LTBP2 PDE4D PROP1 SHOC2 GJA1 MAPT SLC13A5 ACTB DGCR8 NEB WNT10A EPAS1 COL2A1 SPECC1L DAG1 CDH23 FGFR2 BLM GPC4 CDON CHRNE PDX1 AK9 OPN1SW NPHP1 TIMP3 CDH3 TPP1 RAG1 ARR3 USB1 MFSD8 NDUFAF6 FLNA MUTYH GABRA2 ZNF365 ERCC1 NEK1 SOX6 NF1 SIL1 FKTN RAB3GAP1 VMA21 NF1 DNMT3B RPL35 SRY CNOT3 GPR179 EEF1A2 CDH15 GNRHR TDGF1 KDM5B GGCX CACNA2D2 TAPT1 TMEM216 COX15 PCDH12 CWF19L1 ROM1 SLC4A4 COX1 FLI1 MAPK8IP3 PPM1D ZBTB24 TINF2 LRP5 TOPORS ERCC2 NAA10 MPL POT1 CR2 COL1A1 MITF TFRC TRIM37 RAD50 EXT2 TRNS2 SOST KMT2A ITGB3 MTRR CYB5R3 STXBP1 DNM2 IPW POMGNT2 ASCL1 ATXN7 LRP4 CHD8 PLEKHM1 ELP1 TGFBR2 STAG2 UQCRFS1 LMX1B KCNA2 SALL4 GJB1 ARL6 PRNP DDB2 LAMA1 ZC3H14 ZBTB20 DCPS KIF1A IGHM NBAS MARS2 SLC25A15 QRICH1 BEST1 RHO HPGD MEFV SUCLA2 RNASEH2B WT1 MYO7A NDUFAF8 NOTCH3 HERC2 GUCA1A CASK FAM111A DBH ALG6 SDHC CHRNG CANT1 SPART CNTN1 PLP1 GRM6 ZFYVE26 SALL4 FARS2 FGFR1 RPGRIP1L LOX TTI2 PIGV CHRND CP LINS1 SETX POMGNT1 POLR1A RIMS2 NMNAT1 CPLANE1 PEX13 GPC3 WNT5A EVC DHDDS FRRS1L GJA3 RB1 FKRP BBS7 DDX6 ATCAY MAGEL2 PQBP1 COG5 ETHE1 LDLR DVL1 FBXL3 RASGRP1 CHD7 NSDHL TTC12 GABRA3 PROC KLLN BBS7 PPP1R12A KIF1C C12ORF65 LRAT GAS1 KCNQ1OT1 SPG7 NGF EEF2 CDH11 GLI2 LBR GLRB PLCB4 ARID1B APC BRAF IDUA ARL3 BCOR RGS9 IL12A CEP152 MMUT CLDN16 IQSEC2 SF3B4 SOST PEX7 SCYL2 UMPS PLOD3 KIAA1109 SET CLP1 FDXR XPC MKRN3 SMCHD1 PDCD1 CD96 MYH7 SPEG TXN2 NDP FBXO7 UBIAD1 LIFR IGBP1 EIF2B5 LMNB1 GRHL2 TACO1 OTX2 PLP1 RTL1 ESS2 MYO5A ALDH18A1 LYRM7 EXOC6B RPS26 SLC39A4 SMO MID1 ARL2BP RLBP1 SCN9A TBCE RAPSN ODC1 ASH1L TTPA PIGL CYP4V2 THRB CACNA1A PEX10 ND2 TP63 DHPS RAI1 HDAC6 DNAJB13 COL2A1 AGBL5 ERLIN2 PROM1 PALB2 CILK1 C12ORF65 IL12B PDE6G SLC2A1 PISD ETFDH UFC1 ALG3 IL11RA TTBK2 PIGT ATP13A2 TSPYL1 STAMBP TULP1 KLF13 IFT172 EZH2 KRT1 B2M CORIN STXBP1 GNAT1 PRPS1 KCNK4 CDH11 PLAA KLHL41 LIMK1 AP3D1 RPL5 HMGA2 CTSD KRAS CCM2 MAB21L2 NDUFAF1 ERCC3 IDH3A EP300 SPART STUB1 HLA-DQB1 ELOVL4 NDUFA6 FARSA CDC42 ROR1 PLCG2 RPGRIP1L SNX14 POLG VAC14 ND3 KCTD7 SIN3A BRAT1 NSUN2 DNMT1 ZMIZ1 PTCH1 NOG LMNB1 WDR4 HNRNPK ND1 IGHM NDE1 TUBB SLC39A8 MUSK PNPO GJA5 ATRX POLG DCC SMARCC2 ERCC2 NSDHL TUBB3 COL9A2 TXNL4A RAB23 TRPV4 MLH1 GABRA1 ADAM9 LOX PIK3R2 BPTF LAS1L PPP2CA RNF168 RAB3GAP2 USH1C TGIF1 NT5C2 RARS2 GRIN2D FSCN2 ARCN1 PIGV IDUA NKX2-5 HESX1 BCOR JAK2 EFNB1 MCOLN1 GJA8 SLC12A3 SIM1 NEU1 B4GALNT1 TGIF1 STAT3 MAPT DUSP6 ALG2 ATP1A2 FIBP ZMIZ1 WFS1 HLA-B HDAC4 FZD2 TSC1 PIGQ FREM1 GNB3 OPN1MW ATP6V0A2 A2ML1 RP1L1 PKDCC ORAI1 ABCB6 TSHR ITCH SEMA4A TRMT5 TRIM8 FIG4 LAMB1 SETD5 RPS27 TRNS2 SURF1 CTNNA1 PIK3R5 C1QTNF5 NDUFA1 UFD1 PCYT1A PDE4D ZDHHC9 RAF1 INPPL1 DHX16 DNAJC6 GBA DKC1 SHANK3 TCIRG1 BBS5 LAMB3 FGFR3 FBN1 RUSC2 TRPM1 KANSL1 PTCH1 EIF2AK3 SCN1A SLC18A3 RAB18 FBN1 ARL6 GCH1 FGFR1 YAP1 FZD4 CDKL5 SALL1 SMC1A ZBTB16 NDUFAF4 ATXN8OS RPE65 CTU2 METTL23 ATXN3 ABCA12 HSD17B10 TWIST1 SMC3 YME1L1 COG1 PNKP FBN1 GATA1 TRNL2 IQSEC1 GBA2 PRNP CAMK2G RBPJ WDR19 HIVEP2 HNRNPA1 DPH1 MYLK TMEM94 CEP290 FTL PRPF4 CRYGD ADAR HDAC8 MLH3 SH3TC2 ITPR1 TSEN15 YY1 COL4A1 STAG2 ARL6 LRAT WHRN CDH3 ALG13 KIAA1549 TERC BUB3 STT3A CRX NSD1 FGFR2 BOLA3 MAPT KIAA1549 MFN2 ATF6 C12ORF4 TRIP13 MEG3 TINF2 KMT2C DDX3X AIRE ATP7B AMMECR1 BCR IFRD1 LRP12 BBS2 SNAP29 SCN3A GLB1 FREM1 PLP1 SNAP25 ATR CTNS CENPJ DLL1 LAS1L VHL EXTL3 SH3PXD2B KCNE5 ARL6 PLA2G6 MAN2B1 COMT EXOSC3 MYORG KRT81 CDK19 CEP250 ISCA2 CDK5RAP2 LARGE1 ERCC4 TMEM67 BTNL2 IL1RAPL1 IGF1 GRIA3 MTHFS WNT3 VCAN PIGN TRNH SLC39A14 CHRNA1 INPP5K HGD ITPR1 COL1A1 ATP6V0A2 PNPLA6 EPG5 PRPS1 POLR3B COL7A1 DDB2 CASK SATB2 KIF11 SHH COL6A2 MTOR OSGEP LAMA3 TBX2 POMGNT1 SPECC1L IKZF1 SPECC1L PTDSS1 PRKDC RORA SAMD9 YY1 SLC1A3 PIK3C2A IFT172 AARS2 AARS1 PDSS2 SH2B3 LZTFL1 NDUFAF2 CTNNB1 CEP120 C9ORF72 PTEN CPLX1 MYH3 CEP290 SLC26A2 PLOD1 PLEC RAB39B DLL1 KCNQ5 PRPS1 TTC8 IGH CLIP2 H19 APOB NTRK1 PLCB3 CHEK2 GNAQ IGF1R SLC7A14 B3GALNT2 DST ARMC9 NRAS HSD17B4 SIX3 FOXG1 TELO2 TIMM8A EXTL3 POLG MYD88 SYCE1 GNRH1 THOC2 PAX3 MOGS PORCN SNRNP200 PIBF1 SOX11 GNB5 WDR19 SHOC2 CKAP2L SDCCAG8 AP3B1 GABRG2 POLG APOC2 POLA1 COL2A1 LPL CYP7B1 MITF SON COL2A1 EDN3 KLHL41 DVL3 RGR IFT74 CTNND1 COLEC10 HESX1 RANBP2 TRNL1 PAX2 ALX1 IFT122 SPG11 GNPTG PROM1 HPDL NRAS ARL6 ABHD5 PEX2 FAT4 DDR2 TTC37 DACT1 QARS1 NTRK2 KRT14 PACS2 FYCO1 RAF1 LRRC6 CHRND TRNW RAX2 DYNC2I2 CDH23 SHH PDE6B CASK PKP1 CHST14 TRNV TANC2 NEXMIF FLNA NFIX SLC12A3 TMEM67 CCNO OCRL SLC17A5 FGFR2 CYP1B1 ASPH GMPPB NAGA IDUA MGP NDUFS3 GBA HRAS C12ORF65 IFITM5 SLC35A2 FAM161A EXOSC2 NOD2 NOD2 ADK GRIN2A POU1F1 TRNH LMBR1 ADGRG6 PTPN11 ADRA2B SLC26A2 USP45 GATA2 MSMO1 HMCN1 HUWE1 IDH3B PDE4D ALDH1A3 CACNA1S RARB PRPH2 MAST1 GNAS TAOK1 PRPS1 CBS MARCHF6 WDR73 SUFU NF2 TKFC TRAPPC2 TMEM216 CASP10 ZEB1 LTBP2 SIL1 SLC25A4 DLK1 APP CNOT1 DALRD3 SPR CLCN2 TAP2 B3GAT3 ABCA4 CTDP1 EBP CHRNA3 KCNH1 KRT5 MRAS MRPS28 TNFSF11 SLC2A3 PLP1 FGFR3 P2RY11 PUS3 TRNQ MMP19 TUBGCP4 XRCC4 VAMP1 TH KCTD1 ND3 RHO CACNA1H GBA MSTO1 C9ORF72 TNFRSF11A POLR3B PAX6 FBXL4 FAT2 USH2A ASXL1 CHRND MRAS ROR2 CACNA1A TNFRSF11A TWIST1 CEP290 AP3B2 DDX6 BCL11A CA8 TEK GPAA1 KCNA1 SEMA4A SCN4A ZSWIM6 NDUFV1 UBA5 SCN4A TRAF7 ERCC4 MCOLN1 ST3GAL5 CIC CRYGD HELLS FGFR1 GPT2 NDUFA13 BCORL1 PIGW SMOC1 FOXH1 NEK9 ABCC8 BFSP1 RPS7 LRMDA HSD11B2 SLC4A11 BGN STAG2 NDUFAF3 PSAP RP1L1 ABCA1 SNCA MIR204 PTEN GATAD2B SNRPN C19ORF12 NACC1 SLC4A11 RBM10 TBCE KCNJ11 GATA2 HLA-DQB1 FGF8 TACR3 TBCE PEX14 WDR19 KANSL1 DBH WNK1 NDN ND5 IDS DNAAF3 PPP2R2B FAM149B1 KIF7 DPM2 OPHN1 MYMK NANS DYRK1A MYOC HLCS NHS ALPK1 AP5Z1 PIK3R5 SMO NONO FLT4 MAPT AFG3L2 MAN1B1 TAB2 ITCH RGS9BP USP45 POLG TGFBI ZNF423 WFS1 UGDH FAM111A CEP120 KIF1B SELENOI PIGL FGFR1 RD3 NDUFS8 NDUFB8 SPEF2 ALX4 PBX1 AEBP1 FBXO31 STAT4 ACY1 TBL2 BMP2 BBS2 METTL5 WIPF1 POC1A POMT1 GRIN1 TUBB2B NEXMIF CEP120 CSNK2A1 SARS1 TRAPPC9 SNORD116-1 NOP56 GBA2 TMEM38B POLR2A SGPL1 GRIN1 VIM SALL4 KRIT1 BBS12 ST14 OFD1 TWIST2 TPM3 IL6 TRNT LMNA PPP2R1A SURF1 BRCA1 B3GALNT2 PSMB8 STAG2 CRKL POLR1D SEC23A CACNA1D CNGA1 SIX1 OPA3 KRT71 PROP1 HS6ST1 ALX3 YAP1 CERS3 SEMA3E MRPL12 DNMBP TCTN1 CDON PROS1 SRPX2 B4GALT7 SLC18A3 BAP1 NMNAT1 KCNJ11 FXN WNT3 FOXRED1 PLG TP53 RAF1 OPA1 CACNA1B CD79B HEXB ORAI1 TFG GABRB3 FGFR2 MYPN ZIC2 CALR VLDLR ITGA7 LTBP2 RPGRIP1 FTL COA3 FAM126A TRIT1 APC SOX2 ABCA1 IARS2 EXT2 CHRNE NF1 GDF6 XRCC1 RTEL1 RS1 ARL13B KCNJ6 GPC3 TGFB2 KIFBP DMPK SMCHD1 RNU4ATAC CEP290 ZC4H2 PITX2 SKI PIK3CA LARGE1 EBP WT1 SALL2 ANKRD11 ALPL SAMD9L TRNW SMC1A PRNP RTTN RB1 HGD CHST14 GLB1 KRAS DLAT TBCE SLC25A1 RAB3GAP1 PTCH1 TBX22 GNAS PXDN PRNP MPZ B3GALT6 YEATS2 FAM50A GLI2 RP1L1 TBP NDUFA13 SEC24D ZNF148 MAF COX3 LCA5 WRAP53 ACTN2 PAX3 LTBP2 NDUFV1 HGSNAT CREB3L1 ABCC6 STIM1 DPP6 MAGEL2 ADAR DGUOK CRPPA KISS1R PTEN FTL GTF2H5 GRM6 WWOX ADAM9 HESX1 TERT REEP6 FAT4 CYB5A ALDH3A2 CRYBB2 ALG1 OPN1LW PIGP KLHL7 NR2F1 COX14 RPGR AGBL5 PRX IGFBP7 CARS2 PHOX2B CHD7 RBM8A ROM1 KCNA4 NDN TMEM70 POLD1 SLC12A6 POMT1 ALS2 EXOSC8 CREBBP OCA2 SMPD4 SLC25A24 ALPL NKX6-2 SYT14 TRNL1 RET CTC1 PEX5 SNRPN IFT27 GATA6 ACVR1 COL2A1 IMPG2 NDUFV2 APC MECR SYT2 CCDC39 HSD17B10 PPP3CA CENPT WHCR ACSL4 MTMR14 COX1 NAA10 STXBP1 FGFR3 EP300 GMPPB NDUFS4 AHDC1 LZTFL1 CTNNB1 MFF PTH1R INPP5E DVL1 HCRT HLA-DRB1 DKC1 TRAPPC11 TERT DYNC2I2 GGCX PAX6 ARHGEF18 TCF12 ERCC4 MTFMT ALS2 ELOVL1 CTDP1 NDUFAF1 RFT1 CCDC65 HDAC8 USP7 POMT1 SLC25A11 CTNND2 FLII FRMD7 ATP6 KREMEN1 CHRDL1 IFT140 DHCR24 COA8 GNAT1 CLTCL1 TOE1 RLIM CYP1B1 SUZ12 MARS2 NEU1 HLA-B BTD SREBF1 FGFR2
Protein Mutations 1
P23H
SNP 0