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Report for Clinical Trial NCT00747487

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

A Double-Blind, Randomised, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in the Treatment of Patients With Leber's Hereditary Optic Neuropathy

This study is meant to assess the effectiveness of idebenone on visual function measures in patients with Leber's Hereditary Optic Neuropathy over a 6 months period.

NCT00747487 Leber's Hereditary Optic Neuropathy
MeSH:Peripheral Nervous System Diseases Optic Nerve Diseases Optic Atrophy, Hereditary, Leber
HPO:Abnormal peripheral nervous system morphology Leber optic atrophy Peripheral neuropathy Polyneuropathy

2 Interventions

Name: Idebenone

Description: Idebenone 900 mg/day
Type: Drug
Group Labels: 1

1

Name: Placebo

Description: Placebo
Type: Drug
Group Labels: 1

2


Primary Outcomes

Measure: Best recovery of logMAR visual acuity between baseline and Week 24 in either right or left eye

Time: 24 weeks

Secondary Outcomes

Measure: Change in the patient's best logMAR visual acuity between baseline and week 24

Time: 24 weeks

Measure: Change in scotoma area in both eyes

Time: Day -1, Week 4, Week 12, Week 24

Measure: Change in optic nerve fibre layer thickness in both eyes

Time: Day -1, Week 4, Week 12, Week 24

Measure: Colour contrast sensitivity in both eyes (in a subset of patients)

Time: Day -1, Week 4, Week 12, Week 24

Measure: logMAR visual acuity as a continuous variable in both eyes

Time: Screening, Day -1, Week 4, Week 12, Week 24, Week 28

Measure: Clinical Global Impression of Change

Time: Week 4, Week 12 and Week 24

Measure: Change in Health-Related Quality of Life (HRQOL)

Time: Day -1, Week 4, Week 12, Week 24

Measure: Change in self-reported general energy levels

Time: Day -1, Week 4, Week 12, Week 24, Week 28

Measure: Proportion of patients in which visual acuity in the initially least affected eye does not deteriorate to 1.0 log MAR or more ( in LHON patients with eye still less affected than 0.5 logMAR at trial entry)

Time: 24 weeks

Measure: Plasma levels of idebenone matched to measures of efficacy and safety

Time: 24 weeks

Measure: • Best visual acuity at Week 24 (best eye at Week 24) compared to best visual acuity at Baseline (best eye at Baseline)

Time: 24 weeks

Measure: • Count of eyes/ patients for which the visual acuity improves between baseline and week 24

Time: 24 weeks

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There are 3 SNPs

SNPs


1 G11778A

Inclusion Criteria: - Age > or = 14 years and < 65 years - Impaired visual acuity in at least one eye due to LHON - Onset of visual loss due to LHON lies five years or less prior to Baseline - Confirmation of either G11778A, T14484C or G3460A LHON mtDNA mutations at >60% in blood - No explanation for the visual failure besides LHON - Body weight ≥ 45 kg - Negative urine pregnancy test at Screening and at Baseline (women of childbearing potential). --- G11778A ---

Exclusion Criteria: - Treatment with Coenzyme Q10 or idebenone within 1 month prior to Baseline - Pregnancy and/or breast-feeding - Weekly alcohol intake 35 units (men) or 24 units (women) - Current drug abuse - Clinically significant abnormalities of clinical haematology or biochemistry including, but not limited to, elevations greater than 2 times the upper limit of normal of AST, ALT or creatinine - Participation in another clinical trial of any investigational drug within 3 months prior to Baseline - Other factor that, in the investigator's opinion, excludes the patient from entering the study Inclusion Criteria: - Age > or = 14 years and < 65 years - Impaired visual acuity in at least one eye due to LHON - Onset of visual loss due to LHON lies five years or less prior to Baseline - Confirmation of either G11778A, T14484C or G3460A LHON mtDNA mutations at >60% in blood - No explanation for the visual failure besides LHON - Body weight ≥ 45 kg - Negative urine pregnancy test at Screening and at Baseline (women of childbearing potential). --- G11778A ---


2 G3460A

Inclusion Criteria: - Age > or = 14 years and < 65 years - Impaired visual acuity in at least one eye due to LHON - Onset of visual loss due to LHON lies five years or less prior to Baseline - Confirmation of either G11778A, T14484C or G3460A LHON mtDNA mutations at >60% in blood - No explanation for the visual failure besides LHON - Body weight ≥ 45 kg - Negative urine pregnancy test at Screening and at Baseline (women of childbearing potential). --- G11778A --- --- T14484C --- --- G3460A ---

Exclusion Criteria: - Treatment with Coenzyme Q10 or idebenone within 1 month prior to Baseline - Pregnancy and/or breast-feeding - Weekly alcohol intake 35 units (men) or 24 units (women) - Current drug abuse - Clinically significant abnormalities of clinical haematology or biochemistry including, but not limited to, elevations greater than 2 times the upper limit of normal of AST, ALT or creatinine - Participation in another clinical trial of any investigational drug within 3 months prior to Baseline - Other factor that, in the investigator's opinion, excludes the patient from entering the study Inclusion Criteria: - Age > or = 14 years and < 65 years - Impaired visual acuity in at least one eye due to LHON - Onset of visual loss due to LHON lies five years or less prior to Baseline - Confirmation of either G11778A, T14484C or G3460A LHON mtDNA mutations at >60% in blood - No explanation for the visual failure besides LHON - Body weight ≥ 45 kg - Negative urine pregnancy test at Screening and at Baseline (women of childbearing potential). --- G11778A --- --- T14484C --- --- G3460A ---


3 T14484C

Inclusion Criteria: - Age > or = 14 years and < 65 years - Impaired visual acuity in at least one eye due to LHON - Onset of visual loss due to LHON lies five years or less prior to Baseline - Confirmation of either G11778A, T14484C or G3460A LHON mtDNA mutations at >60% in blood - No explanation for the visual failure besides LHON - Body weight ≥ 45 kg - Negative urine pregnancy test at Screening and at Baseline (women of childbearing potential). --- G11778A --- --- T14484C ---

Exclusion Criteria: - Treatment with Coenzyme Q10 or idebenone within 1 month prior to Baseline - Pregnancy and/or breast-feeding - Weekly alcohol intake 35 units (men) or 24 units (women) - Current drug abuse - Clinically significant abnormalities of clinical haematology or biochemistry including, but not limited to, elevations greater than 2 times the upper limit of normal of AST, ALT or creatinine - Participation in another clinical trial of any investigational drug within 3 months prior to Baseline - Other factor that, in the investigator's opinion, excludes the patient from entering the study Inclusion Criteria: - Age > or = 14 years and < 65 years - Impaired visual acuity in at least one eye due to LHON - Onset of visual loss due to LHON lies five years or less prior to Baseline - Confirmation of either G11778A, T14484C or G3460A LHON mtDNA mutations at >60% in blood - No explanation for the visual failure besides LHON - Body weight ≥ 45 kg - Negative urine pregnancy test at Screening and at Baseline (women of childbearing potential). --- G11778A --- --- T14484C ---



HPO Nodes


HPO:
HP:0000759: Abnormal peripheral nervous system morphology
Genes 1377
NDUFS7 MID2 AARS1 FUS COL13A1 PLEKHG4 SPG11 CTDP1 FAM126A ERCC4 AR DMXL2 ACTA1 CXORF56 TDP1 COX3 SLC12A6 LMNA GDAP1 GPR101 CASR SLC25A46 SPTBN2 TWNK RRM2B DNM2 IARS2 C12ORF65 NIPA1 MPZ ARL6IP1 SPART RNF43 TRNL1 ABCC8 ATP7A SETD5 NF1 BSCL2 KCNJ11 NF1 MAFA PHOX2B RET C11ORF95 DSE OPA3 PDCD10 CHKB PEX10 ASXL1 PLP1 HADHA LZTR1 USP9X AIP MAFB TOP3A MYOT RPIA NEFL ATP6 TACO1 CDH23 ERAP1 RPS20 COCH MME DDHD1 TCIRG1 CLTCL1 POLG FLI1 ALDH18A1 ND4L SCP2 CHST14 DNASE1L3 SUFU TRNK MPV17 TSPAN7 TTR B2M ATP6 SCN2A ND1 DEAF1 ELP1 MEN1 PRKCG CLCNKB NFASC NGF HFE COX2 HSPD1 EYA1 GCH1 CHAMP1 ACTA1 MAPT GJC2 VAMP1 ATXN3 PDX1 PMP22 NDUFS3 MICU1 ANO5 OTX2 AEBP1 SDHD PDSS1 ND3 SOST CDKN1B AIFM1 FLNC COG8 SLC30A10 VHL CDKN2B ACTA1 PLA2G6 CHRNA1 DCTN1 GJB1 SRPX2 SGPL1 DNM2 PTDSS1 SOX10 NDUFB8 ADCY6 ATXN3 BIN1 MLH1 ACADS HK1 ACTA1 CLP1 POLG IPW DARS2 INS MEFV TGFBR3 CHRND CAV1 CHRNE CDKN1A DNM2 HADHA ACSL4 CA2 DNMT1 TTR ALAD TRNS1 MPL AP1S1 KCND3 ERCC3 BIN1 UBQLN2 POMT1 POLG2 HNRNPA1 AP5Z1 CCT5 VPS13A MYH7 NF1 CHMP2B ARSI MPC1 POLG ERCC6 TYROBP NDRG1 SLCO2A1 ERCC2 SDHA FBN1 MFF SQSTM1 MAT1A GNAS WDR48 COL6A1 TPM2 TNFSF11 LRPPRC SDHA RYR1 AGXT GCK ZC4H2 UPF3B PAK3 ATP13A2 HLA-DPA1 SCN11A DNAJB2 LMOD3 SDHB SNORD115-1 GBA2 LITAF PDK3 PRRT2 RFC1 IDUA PRPS1 NDUFA12 RTN2 GPI SNX10 ECHS1 C9ORF72 NDUFV2 MYH7 LDB3 MAPT ERCC3 VRK1 PSAP MTRR NTRK1 CDKL5 JAK2 CYP7B1 VPS13A SDHD TREM2 APC POLR3A SLC52A2 CRAT SPG7 LMOD3 EYA1 PIK3R5 GJB1 MARS1 NDUFS2 PRX CYP2U1 PMP22 MTTP NOD2 GDAP1 MAG HMBS AGTR2 ABCA1 ND5 NDUFAF6 SDHD PRPS1 TREX1 AGRN ALG2 AR ATAD3A XRCC1 SNAP25 CAV1 ALAD ADAT3 MAGEL2 HADHB DMD SALL4 MFN2 PEX26 SUCLA2 KIF1B FGF14 SDHB PMM2 ALDH18A1 SLC25A19 TMEM106B AFG3L2 MEGF10 CTDP1 TWNK ASAH1 SLC19A3 REEP1 IGF2 GCK TPI1 CRPPA ERCC4 VHL DEAF1 TRIM32 KBTBD13 DSTYK ND5 FGF14 TGFB1 MPZ SH3TC2 SLC18A3 VCP GDAP1 CA2 CHRNB1 SLC19A2 DOK7 FRMPD4 TWNK PLXND1 GJC2 MAX HARS1 GRN PRTN3 AGRN EDN3 ATP7B RET GMPPB ATP13A2 SCN4A SOST STUB1 CHAT CD59 THPO NDUFA10 ZNF81 SDHB CYP27A1 SETX NEFH EXT2 TRNF MKRN3-AS1 SMCHD1 SETX CTSD NDUFS1 ACTA1 SMPD1 TPP1 KCNJ11 SDHC RYR1 RAB18 SOST ATXN10 LTBP3 STAT3 COLQ CHCHD10 CALR SMC3 PEX6 SDHC VAMP1 FKTN GNE CYTB COASY NDUFAF3 OSTM1 WNK1 FUS LRP5 HFE KIF1B GCGR CRLF1 LMNB1 SCO2 SLC46A1 PSAP GFPT1 TXN2 KIF5A PEX2 ND4 SETX ELOVL4 KIF1A RNASEH2B TPM3 KIF1B RELA NDUFA9 NDUFS2 SPG11 HSPB1 SCN8A B4GALNT1 WASHC5 VHL PPP2R2B MFN2 SLC12A1 NF1 PEX10 INF2 TRPV4 NAGLU SLC9A7 ASCL1 ZNHIT3 FAH ATL3 SIL1 GDNF ALG13 PRX LARGE1 ARSA MPZ GSN BIN1 PDX1 SDHB COX6A1 KLHL40 CHD7 SLC52A3 WFS1 RRM2B SMN2 PPOX KCNK9 TPI1 AMPD2 SERPING1 GNAS FOXRED1 LARGE1 ABCC8 CASR SLC2A1 C19ORF12 UBA1 KLHL9 AP5Z1 SMARCB1 NOD2 SDHC SERPING1 TBC1D24 SLC5A7 ERCC8 GBA2 CACNA1A PYROXD1 LYST GFPT1 MPZ PRRX1 DARS2 TMEM127 MEOX1 HLA-B MTMR14 VCP TBCE NOTCH2 CHRNA1 ATXN8 FGD4 MATR3 BRAF ADAR POLG2 GTF2E2 PNPT1 SMARCB1 TMEM127 TRAPPC11 GDNF COL3A1 TPM2 CRYAB KARS1 TBC1D24 BMPR1A WARS1 TPM2 UBAC2 GALC POLG RNASEH1 IDUA IL23R EDN3 RETREG1 PLEC PMS1 ND6 HSD3B7 SLC52A2 ACTA1 COL4A1 FDX2 PEX7 ATXN1 CLCN7 NAGA NGLY1 NEU1 MSH6 TTBK2 AMN SCN10A NDUFA13 AGRN TMPRSS6 TPM2 SCN9A GTF2H5 PIK3CA KCNQ3 TARS1 LIFR RET VHL TNFSF11 PEX10 COMP CAPN3 TPP1 BSCL2 BAG3 ALG14 NIPA1 PEX6 EPCAM NDN PLD3 MEN1 ABCD1 KRAS SDHAF2 TBL1XR1 LRP12 POLG FA2H PLEC COASY PEX13 ELOVL5 MPLKIP SAMD9L HLA-DQB1 MGME1 APTX NALCN APC MYF6 TBK1 TCIRG1 PDHA1 GMPPA GBE1 KCNJ1 APTX DLST ND5 MYPN TNFRSF11A SDHB TTPA TRNE TPRKB POMT1 SDHC PRKAR1A SQSTM1 TRNW PEX1 GMPPB PEX6 MYPN FKRP DNA2 NGF FA2H ATXN8OS MYPN PPP2R2B BTNL2 MUSK TRNH LMOD3 OPA1 ERCC1 DHH NLRC4 GDF6 GNB4 ATP6 TFAP2A NEB OPA1 SPTLC2 PLEKHG5 PNPT1 PTCHD1 USP27X ATXN3 TXN2 LMNA GJB1 AK9 LYST KIF1A SLC25A11 SNRPN ND4 FLVCR1 FMR1 TIMM8A NEFH LYST AP1B1 ATXN8OS SCN4A NPAP1 EXT1 DES FAN1 SIGMAR1 H19 FAS UGT1A1 DYNC1H1 ERLIN2 FKRP COL13A1 RET HADH SOST TPM3 SNAP29 APC ATP6 ND1 MED25 COL6A2 CHRNA1 ARHGEF10 ZNF711 RNF168 ACTA1 LIPT1 RNF170 SLC25A4 PEX16 MANBA GRIN2A MPV17 DPAGT1 BDNF MLH3 SPG11 PMP22 PEX5 CLCN7 RPS6KA3 CHN1 SURF1 GDNF TRPV4 VCP CBLIF VCP POLG ARSA SEMA3E CHRNB1 JPH1 TBP MTHFR KLHL40 ACER3 TARDBP SPTBN4 PEX5 SPG7 DKK1 SPEG RYR1 SGCD KIF5A HLA-DRB1 CYTB SIX1 XK TNFRSF1B SPG11 AIFM1 NOTCH3 BSCL2 AHCY SDHAF2 SOX10 XRCC4 VCP IDUA IL12A ERCC6 PWRN1 KCNJ11 ND4 LRP5 NF2 PHOX2B SOD1 IFRD1 FMR1 SDHD IDUA CNTNAP1 SCYL1 HCFC1 MYH7 POLR3A SACS DAXX SLC2A1 TBK1 MSTO1 PMP22 C12ORF65 IL12A-AS1 HADHA REEP1 WFS1 TFG PEX19 PDK3 ANKH AMER1 HDAC8 GNAS LRP4 TTC19 DLL4 CACNA1A NEFL NEB KMT2A INPP5K MFN2 SLC5A7 ACO2 ASCL1 ZFYVE26 ERCC5 SH3TC2 DNMT3A ABHD12 C12ORF65 PIK3R5 HINT1 TYMP SLC52A3 ND2 GDAP1 SEMA4A MED12 TK2 MOCS1 RYR1 PNKP GRM1 C9ORF72 NEFL RNASEH2A IL1RAPL1 FBLN5 SIGMAR1 C19ORF12 HNRNPA2B1 UCHL1 PHF6 SERPINI1 FOS KIF1A FBN1 TTN DGUOK CACNA1G RAPSN CPLANE1 TRNQ TRPV4 PMP22 CCT5 DGUOK C9ORF72 SNORD116-1 EGR2 ND6 ARL6IP1 ATXN3 YME1L1 ATN1 ATP6 SDHD PRPS1 PNKP RMND1 ND5 REEP1 NTRK1 LRP5 SCYL1 HLA-DRB1 TK2 ARSB CACNA1G GAN AMACR AAAS GFPT1 CPT1C TSC1 ADSS1 NDUFS2 ATP13A2 ABCA1 AARS1 PRRT2 SEMA3E NAGA NEB ADA2 SMC1A GMPPA KLC2 RET GARS1 COL1A1 RYR1 PEX7 SUCLA2 NF2 ATL1 SLC25A4 CCND1 GJA1 VHL HOXB1 SCO2 SDHC LAMB2 SLC52A2 SLC25A11 FGF3 GABRG2 IQSEC2 FBXO38 FKRP KLHL41 PPOX SPG21 ND1 TCIRG1 HSD17B4 STAT4 GRIA3 FXN KCNJ10 CDKN1B GLA VCP SPEG HSPB1 ERCC5 SPAST SMN1 EGR2 SPG21 NDUFAF4 ND6 ASCC1 AMACR UBTF SYP ND2 SLC5A7 PMP2 CFL2 MYMK ATP6 CHRND HADHB FBN1 ATXN8 CAPN1 LAMA2 MTFMT ANKH WAS SELENOI YARS1 TGFBR2 RNF113A MYO1H LIFR ZNF41 POLG ND2 LRP4 UNC80 TNFRSF1A RAB3GAP2 TRPM7 MTM1 GBE1 ANO5 COX1 ANGPTL6 TPM3 SQSTM1 SURF1 FXN SUMF1 FUCA1 TFG SACS MOCS2 PEX14 ND4 CAPN1 SDHD TREX1 PEX11B MYH14 XPA CHRNA1 CDKN1B ATXN1 HMBS PTPN22 RAI1 HPGD ERCC5 UBTF TGFB1 SLC25A1 MFN2 CYP27A1 PSAP XPC ABCC8 ENG OPA1 LDB3 COL6A3 SIGMAR1 FLRT1 PDGFB MORC2 RAI1 PET100 SPRED1 BSCL2 CCR1 MTMR14 GARS1 SCN9A CHRNE ERCC2 HSPB1 BEAN1 TRNV DMPK SLC18A3 GCLC EGR2 PSEN1 DST TUBB3 ERCC3 MUSK KIT GSN WIPF1 PEX12 PUF60 MME LRSAM1 DYNC1H1 NDUFV1 SYNE1 POMT1 HSPB3 ND6 CTLA4 NOTCH3 CDKN2C TUBB6 DNAJC3 ALDH18A1 POMT2 PIEZO2 DNMT1 SIX5 SCN4A KIF1A PEX3 COX15 CHRNB1 SCN10A ZFR GNA11 TRNW EPAS1 PHOX2B DOK7 PRPH GAN ATL1 NAGA NLRP3 PHYH PMM2 KCNQ1OT1 NGLY1 MARS1 ATXN7 SOST COLQ IDUA GDAP1 CLCN7 HACE1 MFN2 KLRC4 ALS2 AIFM1 SUMF1 REEP2 KIF1B ARHGEF6 PDCD1 SLC30A10 DHH INSR CHD7 AGPAT2 SLC12A3 POLG KIF1C CISD2 MPZ COA7 SH2B3 ZFYVE26 SERPING1 SIX1 INS CPOX ATL1 SHANK3 CHRNE TWNK PNPLA6 DHTKD1 LRP4 KIF1A GJA1 PDYN ADPRS MDH2 SBF1 CYP7B1 DNM1L COX3 DNAJC3 PRKCG CEP126 GNA14 STX16 MME HERC2 PRKAR1A PEX1 NDUFAF2 MPL TWNK RETREG1 RYR1 CLCN7 IFIH1 SCN11A CNTNAP1 POMT2 ARSA MCM3AP PEX7 RAI1 REV3L CHRND GJC2 SURF1 IBA57 TTN SELENON TRIP4 GDF3 DCAF8 GLE1 ADA2 SHANK3 RAD21 GDI1 HINT1 SYNE1 HSPD1 DGUOK ATXN2 PSAP POLG AIFM1 CHRND TBCE TRIM2 ERCC3 KRIT1 NIPBL TBC1D20 MEN1 SPG11 APP SETX SIX1 CLCN7 RET CTLA4 HLA-DPB1 MATR3 CNKSR2 POLR3B ACTA1 TPM2 MPZ ND1 AFG3L2 DLST ERCC2 PGM3 ATAD3A TFG AMER1 IGHMBP2 EYA1 PMP22 C12ORF65 GBA2 C4A COQ7 ALS2 C19ORF12 ALS2 EDNRB PTPN22 TGM1 ZFHX2 CD28 COL6A2 ERCC2 SLC2A1 TTR VCP VPS37A CLCN4 RFC1 DDHD1 GCDH TET2 ATP1A1 SEPTIN9 PLEKHG5 MPZ MSTO1 RAI1 NARS2 MYO9A TRNL1 KLHL41 BMS1 ITGB4 TIMMDC1 MPZ FLII NDUFS4 SLC25A15 MKRN3 ATRX GNA11 SAR1B SLC12A3 POLG CHST14 SLC46A1 PMP22 DLG3 GNAQ ALS2 TPM3 KCNQ2 SDHB DDB2 OSMR TLR4 SLC39A14 IGHMBP2 PEX6 DEGS1 TK2 NF2 HARS1 NDUFAF5 IQSEC2 CHCHD10 SPG7 CHRNE HSPB8 IL10 NALCN SAR1B PEX11B TNXB FIG4 PMS2 COA8 SEPTIN9 HBB TSC2 HSD17B4 AIP MORC2 SALL4 DYNC1H1 TP53 SNAP29 DCTN1 TWNK DMXL2 FTSJ1 ND4L MYMK MTMR2 COL12A1 COX3 NTRK1 AAAS BSCL2 VPS13D KLHL41 WASHC5 PHOX2B RNASEH2C TYMP MYD88 IARS2 NDUFA4 DAB1 NEB FH GCLC SCN9A MRE11 TPM3 KLC2 NDUFA2 DNAJB6 FLVCR1 ARSA RTN2 BTNL2 PLEKHM1 DMPK TRNS2 PABPN1 HRAS SPAST COL13A1 PDE4D NEB SAMHD1 AP1S1 REEP1 PWAR1 DNM2 LMNA PNPLA6 CDH23 COX1 ARX CAVIN1 SLC33A1 MAG SNX10 PRICKLE1 PPARG RRM2B ELP1 PRPS1 FRG1 SLC25A15 MAX MICU1 SLC29A3 MYD88 MEN1 IBA57 RAB3GAP1 ATP5F1E NDUFS8 PRNP ELOVL5 KLHL41 PMP22 KRAS SLC52A3 CUBN PMP22 ALDH18A1 NAGS CCND1 SPTLC1 JAK2 SDHB MSH2 TRNW CCM2 PLEC RET SDHA SDHD PMP22 MYH14 SYT2 TDP1 RAB39B RAB7A GARS1 TBCD AIFM1 NF2 SMN1 MYOT MECP2 CLCF1 SBF2 C19ORF12 CHCHD10 SELENON KCNC3 PEX12 SMN1 MPZ TRNK PMP22 PRKAR1A PHYH PDYN GNPTAB KY SCN9A
Protein Mutations 0
SNP 0
HP:0009830: Peripheral neuropathy
Genes 895
NDUFS7 AARS1 PLEKHG4 SPG11 CTDP1 FAM126A ERCC4 AR DMXL2 TDP1 COX3 SLC12A6 LMNA GDAP1 GPR101 CASR SLC25A46 SPTBN2 TWNK RRM2B IARS2 C12ORF65 NIPA1 MPZ ARL6IP1 SPART TRNL1 ABCC8 ATP7A SETD5 BSCL2 KCNJ11 C11ORF95 DSE OPA3 PLP1 HADHA TOP3A MYOT RPIA NEFL ATP6 TACO1 ERAP1 RPS20 MME DDHD1 CLTCL1 POLG FLI1 ALDH18A1 ND4L SCP2 CHST14 DNASE1L3 TRNK MPV17 TTR B2M ATP6 SCN2A ND1 DEAF1 MEN1 PRKCG CLCNKB NGF HFE COX2 HSPD1 GCH1 CHAMP1 MAPT GJC2 VAMP1 ATXN3 PDX1 PMP22 NDUFS3 MICU1 AEBP1 PDSS1 ND3 AIFM1 COG8 SLC30A10 VHL GJB1 SRPX2 SGPL1 DNM2 SOX10 NDUFB8 ATXN3 MLH1 HK1 CLP1 POLG IPW DARS2 INS MEFV CAV1 DNM2 HADHA CA2 DNMT1 TTR ALAD TRNS1 MPL AP1S1 KCND3 POLG2 HNRNPA1 AP5Z1 CCT5 VPS13A ARSI MPC1 POLG ERCC6 NDRG1 SLCO2A1 ERCC2 FBN1 MFF GNAS WDR48 SDHA AGXT GCK ATP13A2 HLA-DPA1 SCN11A DNAJB2 SNORD115-1 GBA2 LITAF PDK3 PRRT2 RFC1 IDUA PRPS1 NDUFA12 RTN2 GPI ECHS1 NDUFV2 LDB3 ERCC3 PSAP MTRR NTRK1 CDKL5 JAK2 CYP7B1 VPS13A POLR3A SLC52A2 CRAT SPG7 PIK3R5 GJB1 MARS1 NDUFS2 PRX CYP2U1 GDAP1 MAG HMBS ABCA1 ND5 NDUFAF6 PRPS1 TREX1 AGRN AR ATAD3A XRCC1 SNAP25 CAV1 ALAD ADAT3 MAGEL2 HADHB MFN2 SUCLA2 FGF14 PMM2 ALDH18A1 SLC25A19 AFG3L2 CTDP1 TWNK SLC19A3 REEP1 IGF2 GCK ERCC4 DEAF1 DSTYK ND5 FGF14 MPZ SH3TC2 VCP GDAP1 SLC19A2 TWNK GJC2 HARS1 PRTN3 ATP7B ATP13A2 SCN4A STUB1 CHAT CD59 THPO NDUFA10 CYP27A1 SETX TRNF MKRN3-AS1 CTSD NDUFS1 SMPD1 TPP1 KCNJ11 RAB18 STAT3 CHCHD10 CALR SMC3 VAMP1 CYTB COASY NDUFAF3 OSTM1 WNK1 FUS HFE KIF1B SCO2 SLC46A1 PSAP KIF5A ND4 SETX ELOVL4 KIF1A RNASEH2B RELA NDUFA9 NDUFS2 SPG11 HSPB1 SCN8A B4GALNT1 WASHC5 PPP2R2B MFN2 SLC12A1 PEX10 INF2 TRPV4 NAGLU FAH ATL3 SIL1 PRX ARSA MPZ GSN BIN1 PDX1 COX6A1 WFS1 RRM2B PPOX KCNK9 TPI1 AMPD2 SERPING1 GNAS FOXRED1 ABCC8 CASR SLC2A1 C19ORF12 KLHL9 AP5Z1 SERPING1 TBC1D24 SLC5A7 ERCC8 GBA2 CACNA1A LYST MPZ DARS2 HLA-B TBCE NOTCH2 ATXN8 FGD4 MATR3 BRAF ADAR GTF2E2 TRAPPC11 KARS1 TBC1D24 BMPR1A WARS1 UBAC2 GALC POLG RNASEH1 IL23R RETREG1 PMS1 ND6 HSD3B7 SLC52A2 FDX2 PEX7 ATXN1 NAGA NGLY1 MSH6 TTBK2 AMN SCN10A NDUFA13 TMPRSS6 SCN9A GTF2H5 PIK3CA KCNQ3 TARS1 LIFR PEX10 COMP TPP1 BSCL2 BAG3 NIPA1 EPCAM NDN PLD3 ABCD1 KRAS POLG FA2H COASY ELOVL5 MPLKIP SAMD9L HLA-DQB1 APTX NALCN MYF6 PDHA1 GMPPA GBE1 KCNJ1 APTX ND5 TTPA TRNE PRKAR1A TRNW PEX6 NGF ATXN8OS PPP2R2B BTNL2 TRNH OPA1 ERCC1 DHH NLRC4 GNB4 ATP6 OPA1 SPTLC2 PLEKHG5 PNPT1 ATXN3 TXN2 GJB1 LYST KIF1A SNRPN ND4 FLVCR1 FMR1 TIMM8A NEFH LYST AP1B1 ATXN8OS SCN4A NPAP1 FAN1 H19 FAS DYNC1H1 ERLIN2 HADH SNAP29 ATP6 ND1 MED25 RNF168 LIPT1 RNF170 MANBA GRIN2A MPV17 MLH3 SPG11 PMP22 PEX5 SURF1 TRPV4 CBLIF POLG ARSA JPH1 TBP MTHFR ACER3 SPTBN4 SPG7 DKK1 KIF5A HLA-DRB1 CYTB XK TNFRSF1B SPG11 AIFM1 NOTCH3 BSCL2 AHCY SOX10 XRCC4 VCP IL12A ERCC6 PWRN1 KCNJ11 ND4 IFRD1 FMR1 IDUA SCYL1 POLR3A SACS SLC2A1 MSTO1 PMP22 C12ORF65 IL12A-AS1 HADHA WFS1 TFG PDK3 HDAC8 GNAS CACNA1A NEFL KMT2A INPP5K MFN2 SLC5A7 ACO2 ZFYVE26 ERCC5 SH3TC2 ABHD12 C12ORF65 PIK3R5 HINT1 TYMP SLC52A3 ND2 GDAP1 SEMA4A TK2 PNKP GRM1 NEFL RNASEH2A FBLN5 HNRNPA2B1 UCHL1 PHF6 SERPINI1 FOS KIF1A FBN1 DGUOK CACNA1G TRNQ TRPV4 PMP22 CCT5 DGUOK SNORD116-1 EGR2 ND6 ARL6IP1 ATXN3 ATN1 ATP6 PRPS1 PNKP RMND1 ND5 REEP1 NTRK1 SCYL1 HLA-DRB1 ARSB CACNA1G GAN AMACR AAAS CPT1C NDUFS2 ATP13A2 ABCA1 AARS1 PRRT2 NAGA ADA2 SMC1A GMPPA KLC2 GARS1 COL1A1 PEX7 NF2 ATL1 SLC25A4 SCO2 GABRG2 PPOX ND1 STAT4 GRIA3 FXN KCNJ10 GLA VCP HSPB1 ERCC5 SPAST EGR2 SPG21 ND6 ASCC1 AMACR UBTF ND2 ATP6 HADHB ATXN8 CAPN1 LAMA2 MTFMT WAS SELENOI YARS1 TGFBR2 RNF113A LIFR POLG ND2 UNC80 TNFRSF1A RAB3GAP2 GBE1 COX1 SURF1 FXN FUCA1 TFG SACS ND4 CAPN1 TREX1 PEX11B MYH14 XPA ATXN1 HMBS PTPN22 RAI1 HPGD ERCC5 TGFB1 SLC25A1 MFN2 CYP27A1 PSAP XPC ABCC8 OPA1 LDB3 SIGMAR1 FLRT1 MORC2 RAI1 PET100 BSCL2 CCR1 MTMR14 GARS1 SCN9A ERCC2 HSPB1 BEAN1 TRNV SLC18A3 GCLC EGR2 DST TUBB3 ERCC3 GSN WIPF1 PEX12 MME LRSAM1 DYNC1H1 NDUFV1 SYNE1 HSPB3 ND6 CTLA4 NOTCH3 DNAJC3 ALDH18A1 PIEZO2 DNMT1 KIF1A COX15 SCN10A ZFR GNA11 TRNW GAN ATL1 NAGA NLRP3 PHYH PMM2 KCNQ1OT1 NGLY1 MARS1 ATXN7 GDAP1 MFN2 KLRC4 ALS2 AIFM1 REEP2 PDCD1 SLC30A10 DHH INSR AGPAT2 SLC12A3 POLG KIF1C CISD2 MPZ COA7 SH2B3 ZFYVE26 SERPING1 INS CPOX ATL1 SHANK3 TWNK PNPLA6 DHTKD1 KIF1A PDYN SBF1 CYP7B1 DNM1L COX3 DNAJC3 PRKCG GNA14 STX16 MME HERC2 PEX1 NDUFAF2 MPL TWNK RETREG1 RYR1 IFIH1 SCN11A ARSA MCM3AP PEX7 RAI1 GJC2 SURF1 IBA57 TRIP4 DCAF8 GLE1 SHANK3 RAD21 HINT1 SYNE1 HSPD1 DGUOK ATXN2 PSAP POLG AIFM1 TBCE TRIM2 ERCC3 NIPBL TBC1D20 APP SETX CTLA4 HLA-DPB1 MATR3 POLR3B ND1 AFG3L2 ERCC2 PGM3 ATAD3A TFG PMP22 C12ORF65 GBA2 C4A COQ7 ALS2 C19ORF12 EDNRB PTPN22 TGM1 ZFHX2 CD28 ERCC2 SLC2A1 TTR VPS37A RFC1 DDHD1 TET2 ATP1A1 SEPTIN9 MPZ MSTO1 RAI1 MYO9A TRNL1 TIMMDC1 FLII NDUFS4 SLC25A15 MKRN3 GNA11 SAR1B SLC12A3 POLG CHST14 SLC46A1 PMP22 KCNQ2 DDB2 TLR4 IGHMBP2 PEX6 DEGS1 NF2 HARS1 NDUFAF5 IQSEC2 SPG7 HSPB8 IL10 SAR1B TNXB FIG4 PMS2 COA8 SEPTIN9 HBB HSD17B4 AIP MORC2 DYNC1H1 TP53 SNAP29 TWNK DMXL2 ND4L MTMR2 COX3 NTRK1 AAAS BSCL2 VPS13D WASHC5 RNASEH2C TYMP MYD88 IARS2 NDUFA4 DAB1 GCLC SCN9A MRE11 KLC2 NDUFA2 FLVCR1 ARSA RTN2 TRNS2 SPAST COL13A1 PDE4D SAMHD1 AP1S1 REEP1 PWAR1 PNPLA6 COX1 CAVIN1 SLC33A1 MAG PRICKLE1 PPARG RRM2B ELP1 PRPS1 SLC25A15 MICU1 MYD88 IBA57 RAB3GAP1 ATP5F1E NDUFS8 ELOVL5 PMP22 KRAS CUBN PMP22 ALDH18A1 NAGS CCND1 SPTLC1 JAK2 MSH2 TRNW PMP22 MYH14 SYT2 TDP1 RAB7A GARS1 TBCD AIFM1 MYOT CLCF1 SBF2 C19ORF12 KCNC3 MPZ TRNK PMP22 PHYH PDYN GNPTAB SCN9A
Protein Mutations 0
SNP 0