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Report for Clinical Trial NCT02428101

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Relation of Genetic Polymorphism of ABCG2 Gene And Occurrence of Oxaliplatin - Induced Peripheral Neuropathy in Patients With Gastrointestinal Tract Cancer

This study will examine DNA from Gastrointestinal Tract of cancer patients treated with oxaliplatin to look for a variation (mutation) of the ABCG2 gene that may lead to drug-induced peripheral neuropathy in certain patients. The DNA will be extracted from patients' blood samples and are analyzed for the ABCG2 single nucleotide polymorphism (G34A - rs2231137 and A/A -rs3114018 genotypes) and correlated with peripheral neuropathy grades.

NCT02428101 Gastrointestinal Tract Cancer Peripheral Neuropathy
MeSH: Gastrointestinal Neoplasms Peripheral Nervous System Diseases
HPO: Abnormal peripheral nervous system morphology Malignant gastrointestinal tract tumors Neoplasm of the gastrointestinal tract Peripheral neuropathy Polyneuropathy

1 Interventions

Name: polymorphism analysis

Type: Genetic


Primary Outcomes

Description: Peripheral Neuropathy Toxicity will be assessed every cycle for six months using the National Cancer Institute Common Toxicity Criteria (NCI-CTCAE). Patients will be assigned to 4 groups according to the grades of neuropathy.

Measure: Correlation of single nucleotide polymorphisms of ABCG2 gene (G34A - rs2231137 and A/A -rs3114018 genotypes) with peripheral neuropathy grades, using the National Cancer Institute Common Toxicity Criteria (NCI-CTCAE)

Time: After 6 cycles of chemotherapy (each cycle is15 days), for six months

Time Perspective: Prospective

Cohort


There is one SNP

SNPs


1 G34A

The DNA will be extracted from patients' blood samples and are analyzed for the ABCG2 single nucleotide polymorphism (G34A - rs2231137 and A/A -rs3114018 genotypes) and correlated with peripheral neuropathy grades. --- G34A ---

Correlation of single nucleotide polymorphisms of ABCG2 gene (G34A - rs2231137 and A/A -rs3114018 genotypes) with peripheral neuropathy grades, using the National Cancer Institute Common Toxicity Criteria (NCI-CTCAE). --- G34A ---

- Neurologic disease or patients with disease impairing the neurologic function affecting Gastrointestinal Tract Cancer Peripheral Neuropathy Gastrointestinal Neoplasms Peripheral Nervous System Diseases Pharmacogenetic analysis/genotyping : Genotyping is conducted via High Resolution Melting (HRM) TECHNIQUE, To confirm the genotyping results, the Polymerase chain reaction (PCR) product of the samples will be examine via direct sequencing using 3500 Genetic analyzer from ThermoFisher (applied biosystem) at two ABCG2 loci using the following PCR primers: 1-ABCG2 G34A - rs2231137 Forward : 5'-TGC AAT CTC ATT TAT CTG GAC TA-'3 Reverse : 5'-AAT GCC TTC AGG TCA TTG GA-'3 -Annealing temp :57 -Product size : 163 2- ABCG2 A/A - rs3114018 Forward : 5'- TGATGTTCCTTCAGCCACTG-'3 Reverse : 5'-TTGTGGAAACCTCACAAAAGTG-'3 - Annealing temp : 59 - Product size : 124 --- G34A ---



HPO Nodes


HPO:
Abnormal peripheral nervous system morphology
Genes 1354
ALG13 TNFRSF11A GMPPA RNASEH1 TPP1 ALS2 CYP27A1 ATXN3 HSPB1 ATP6 OPA1 ARL6IP1 MYPN AGPAT2 SLC5A7 ELOVL5 TPP1 KLHL40 RAPSN AMPD2 HMBS TREX1 ANKH MPZ OPA1 INS LMNB1 AP5Z1 SLC25A11 NDUFAF4 SUCLA2 TIMMDC1 PNKP SDHB NF1 ASCL1 MPL GDNF SLC18A3 PDK3 HK1 TDP1 CA2 CTDP1 NGLY1 POLG PMM2 PSAP GCK AP1S1 RNF170 CDKN2C SLC25A11 GJA1 ERCC4 CRLF1 SUMF1 AMER1 SPG7 KIF5A GBA2 POLG WFS1 CACNA1G RRM2B SETX EYA1 COMP MYH14 ERCC5 SLC19A2 SIX1 SPG7 AIFM1 MEN1 SOST TP53 AP1S1 MANBA TRNF MPZ PEX5 SDHC SMN1 MSTO1 MPZ MPC1 GABRG2 MFN2 SMPD1 PNPLA6 NF1 NEFL SPEG HLA-DPB1 NDUFS1 MYH7 COASY ATP13A2 IL10 HLA-DQB1 SLC46A1 C12ORF65 ATXN3 ATL1 ZFHX2 NEB NOTCH3 BMPR1A SNORD115-1 GBE1 CLCN7 ALDH18A1 ABCA1 AIFM1 NDUFAF2 SUFU TMEM127 TTR NDRG1 CLCN4 CD28 SH3TC2 GNA11 HARS1 SDHC VAMP1 POMT1 PEX13 SCYL1 SDHA CHST14 PEX12 MEN1 GJC2 ND5 NTRK1 ANO5 MTTP SLC5A7 CTSD FLI1 POLG HSD17B4 MPZ MTMR14 NF1 SCN4A ACADS HERC2 PRRT2 LIFR HSPD1 GMPPB DES SLC25A4 TMPRSS6 INSR HADHA MID2 SPRED1 PRKCG IARS2 TMEM106B TPM2 DNMT3A GNAQ PMS2 RET MYPN MATR3 MPLKIP PMP2 PEX1 NPAP1 PPOX MOCS1 NTRK1 CRAT SLC52A3 C19ORF12 SCP2 ND4 SDHB NGLY1 SPG11 SDHA POLG ALDH18A1 COL13A1 BAG3 KLHL41 RMND1 VHL ND1 PRX GDNF CLCN7 SLC2A1 PEX10 XRCC4 SDHB MSH2 ATAD3A HMBS CHD7 SNX10 LRP5 FLRT1 GAN SPG11 FA2H GNAS CAPN1 MARS1 ALAD SEPTIN9 NDUFAF5 VCP NDUFB8 PMP22 KCNC3 SCN10A TRPV4 SDHD RAI1 GJC2 MTHFR AARS1 NEFL RPS20 CCT5 ZFR DCAF8 MPZ ARL6IP1 SDHB HNRNPA2B1 HSPB8 UBA1 PDSS1 FGF14 CD59 DAB1 INPP5K TBP ALG14 FLNC TTBK2 MATR3 POLG ERCC5 MED12 AR NDN DDHD1 PSAP BTNL2 ACTA1 TPM3 TTR NDUFA12 ALDH18A1 ATXN8 SETX MFN2 LARGE1 AGRN SCN9A SIGMAR1 TBL1XR1 PEX10 SLC52A2 TPM2 SDHD COX3 SLC12A1 GPR101 COL6A2 UCHL1 SDHD NF1 BSCL2 GTF2E2 TGFB1 CNKSR2 POLR3A GPI CFL2 RNASEH2A TGFBR2 GDAP1 TWNK HLA-B MAFB COX2 KCNK9 MTFMT SDHAF2 TTR RRM2B FMR1 RTN2 ERCC2 BTNL2 DHH SOX10 HADHA GDNF SCN11A POLG C12ORF65 SLC30A10 MAFA SPG21 MGME1 FOXRED1 ATAD3A VHL ATP6 ERCC3 TPM3 PPARG SLC52A2 NOD2 PTDSS1 ERCC6 XRCC1 KCNJ11 ND6 NEFH ATXN2 PHYH CPLANE1 SNORD116-1 IL1RAPL1 REEP2 KLC2 FRG1 PLEKHG5 TRPV4 SOST CCR1 REEP1 ERCC2 SLC2A1 CHRND KCNQ1OT1 ATL3 SLC25A15 PEX6 APC WIPF1 KIF1A NDUFS3 TRIM32 HADHB DNAJB6 TYMP PMP22 SUMF1 SLC52A3 GSN TBC1D20 NDUFS4 XK TWNK TRNQ SDHD DDHD1 MFN2 MECP2 CCM2 ATXN7 FKRP PSAP FGD4 KCND3 RET PEX6 BSCL2 ARSA TFG CDH23 LRP4 COL12A1 AGTR2 TRNK ERCC3 GBE1 LRPPRC DNAJB2 AIFM1 MAPT RET FGF3 PRKAR1A LYST GNB4 PLP1 HFE HLA-DPA1 TARDBP TFG MYD88 GLA IDUA ALS2 SPTLC2 CLCN7 SERPING1 SIX5 ATP6 GBA2 TRNE EGR2 MAX MME COL1A1 NF2 GCLC DNM2 SBF2 EDNRB KLHL9 TNFRSF1A MTMR2 C9ORF72 APTX SLC25A4 SDHD VCP PDGFB ATL1 SMARCB1 SLC29A3 KIF1A PIK3R5 HDAC8 FBN1 ACTA1 CALR MARS1 IL23R C19ORF12 SNX10 ATXN10 POLG PLEKHG4 ATXN8 ND4L DYNC1H1 MLH3 ND6 SETX REEP1 MFF MYOT SHANK3 KRAS LMNA DLST KBTBD13 ACTA1 CUBN SDHB WDR48 CHRNE MORC2 TWNK LIFR MYMK NAGS PDK3 TFG PRX TCIRG1 SMN2 FLVCR1 GNA11 SOST NEB SNAP29 CHRNA1 KCNJ10 SNAP25 MYH7 CPT1C TDP1 ND3 SDHAF2 IPW KY POLG2 INS PLXND1 NF2 LRP12 WARS1 SMCHD1 HLA-DRB1 AFG3L2 ERAP1 SYP PRNP CLCN7 SCN9A MSH6 APC KIF1B GRM1 EYA1 DGUOK ARSA DMD RNF43 PLEKHM1 CHMP2B BIN1 AAAS SDHC TXN2 MEGF10 SPG11 CHAT CISD2 FTSJ1 SCN8A ATXN1 ADSS1 POLR3B ATP1A1 PDYN GJB1 CACNA1A ERCC3 NARS2 PEX11B CTLA4 RNASEH2B IDUA CYP2U1 SELENON GNE H19 ANKH TFAP2A SLC12A3 POLG2 APC KLHL40 CCND1 PPP2R2B CAPN3 HLA-DRB1 KIF5A TBK1 FBXO38 TYROBP POMT1 MAGEL2 COX3 ERCC5 CHAMP1 PLD3 SMN1 PEX11B DAXX ACTA1 POLG CHRNB1 DOK7 ND1 CHRNB1 GDAP1 KCNJ11 PWAR1 EXT2 SUCLA2 PNKP ADAR DMPK AARS1 RAB3GAP1 TPM2 PEX14 ALS2 TMEM127 PEX1 GNAS NLRP3 PNPT1 GNAS AR TRNK EDN3 CHRND SEMA4A XPA UBAC2 MFN2 GCH1 RAB3GAP2 CASR LMOD3 HSPB1 FLII REV3L C4A PDCD10 DARS2 ND2 KIF1A FA2H HBB PET100 NIPA1 CXORF56 GMPPB MEFV WNK1 KLHL41 TGM1 TRAPPC11 SOST PHOX2B PRKAR1A NEB ERCC8 KIF1B MYMK RAB39B AMACR VPS13D VCP XPC ADCY6 EYA1 MYD88 DHTKD1 TBK1 CDKN1B RTN2 PHF6 ATN1 RRM2B SELENOI AGRN TUBB6 VCP HCFC1 MTMR14 TIMM8A MPZ DOK7 GTF2H5 AMACR AIFM1 COL13A1 ND5 SYNE1 TBC1D24 CTDP1 PDCD1 SCN10A COX3 ATP6 COX15 CHRNB1 FUS ND5 ERCC4 RAI1 HSPB3 WASHC5 RNF168 PMP22 TYMP IQSEC2 FGF14 TTN PEX12 IDUA GNPTAB MKRN3 EXT1 GCK FUS ND2 VRK1 PLEC ATXN8OS NF2 SLC52A3 LRP5 SOD1 SURF1 COLQ MYO9A SCN4A SLC19A3 CEP126 CHRNE MPL RFC1 APTX LAMA2 RFC1 USP9X DNMT1 PMP22 HNRNPA1 REEP1 TBCD DNMT1 TCIRG1 RELA PDYN TPRKB ATP7A SLC2A1 FLVCR1 GARS1 CACNA1A MAG ND2 DKK1 CRYAB NAGLU C9ORF72 EDN3 PDX1 SURF1 POMT2 SDHB MYPN GJA1 SLCO2A1 LTBP3 SELENON CYP7B1 BRAF C9ORF72 TOP3A CDH23 UBTF NDUFS2 LARGE1 CLP1 PIK3R5 DEGS1 SHANK3 PAK3 LMOD3 NDUFS2 IQSEC2 ABCC8 NIPA1 MEN1 IFIH1 TNXB NTRK1 GMPPA RET ASAH1 TBC1D24 PTCHD1 PPOX AIP ND5 COX1 IL12A-AS1 THPO FAH SIGMAR1 IARS2 JAK2 GALC ELOVL5 ND4L FH ATP6 IDUA CCND1 SURF1 MEOX1 MYO1H IBA57 GDAP1 FXN FUCA1 AIP PRRX1 SLC9A7 TTC19 MME ASCC1 GDAP1 DHH COASY MYOT LAMB2 TRIM2 CA2 SAR1B SPG11 GJC2 ZNF81 PYROXD1 FXN SACS BMS1 ATP13A2 MICU1 POLG NF2 PPP2R2B SIGMAR1 PLEC IBA57 C12ORF65 TWNK SLC52A2 HFE SMARCB1 TRNH NEU1 SERPING1 PEX6 AMN KCNQ2 LYST CHKB CASR FOS CHN1 PHOX2B LDB3 DYNC1H1 BSCL2 SLC30A10 MPV17 HADHA TRNL1 SLC25A15 MICU1 OPA3 ERCC2 CAV1 AAAS MAT1A KMT2A SCYL1 GLE1 MUSK UBQLN2 PNPLA6 POMT2 VPS13A KRIT1 B4GALNT1 PLEKHG5 KRAS ARSA TACO1 LZTR1 NOTCH2 SEMA3E TK2 CACNA1G ND1 GAN POLG OSTM1 VHL TRPM7 SIX1 SETX TRNS1 FIG4 CAPN1 TK2 ATP7B MME ASXL1 CDKN1A LMOD3 GFPT1 PHOX2B ACTA1 NIPBL VAMP1 KARS1 PSAP SERPINI1 GCLC FBLN5 HARS1 ATXN1 PTPN22 SCN2A ARSI KCNJ1 HSD17B4 COX1 ARSB SAR1B COA7 HSD3B7 VHL TK2 CNTNAP1 PDE4D CAV1 GDAP1 SLC25A1 DPAGT1 STX16 SLC5A7 SPG11 NOTCH3 REEP1 ACO2 KIT LDB3 COQ7 NDUFA13 COL6A1 KLC2 SLC46A1 RAB7A GRN TRNW CHCHD10 GCGR TTPA VCP CDKN1B SOST SCN11A GDF6 CNTNAP1 PMP22 KLRC4 TET2 RPIA KIF1B ACER3 SIL1 PRICKLE1 TBCE GDF3 C19ORF12 RYR1 LRP4 POMT1 DCTN1 SYT2 RET FRMPD4 ERCC1 PRPS1 GSN C11ORF95 PHYH ERLIN2 SAMD9L DST TBCE PNPT1 SCN9A KIF1A CHRNE TPM2 TSPAN7 COX6A1 PMP22 IGHMBP2 CLCNKB TREX1 RPS6KA3 PRTN3 PLA2G6 SDHA CLCF1 ZC4H2 ALDH18A1 HSPD1 ND4 FBN1 PMP22 DYNC1H1 ERCC6 DNM2 SDHC HACE1 HOXB1 SDHC ZFYVE26 PRPH MPV17 NDUFA4 PEX7 TRNW COA8 ECHS1 ND6 ZNF41 ABCC8 VCP SQSTM1 PMP22 WFS1 MPZ CLCN7 MRE11 TARS1 ERCC3 SCN4A COL6A3 TRNV ND4 ERCC2 INF2 KCNQ3 DLL4 SPAST SPG7 PRKCG NDUFAF3 BSCL2 NEFH KIF1B DLG3 TPM2 TNFSF11 ARHGEF10 SACS ASCL1 SERPING1 BSCL2 FAN1 AGRN PEX6 CCT5 RAI1 ABCC8 CDKN2B SALL4 ARX GFPT1 SMC3 DNAJC3 NDUFS7 DNM2 ANGPTL6 DLST RYR1 ZFYVE26 RNF113A SLC25A19 HSPB1 ARSA PMM2 PEX7 SQSTM1 TUBB3 APP FKRP AK9 PWRN1 DMPK TWNK NAGA MPZ SQSTM1 SETD5 MDH2 CHRND MUSK TPI1 NLRC4 FKRP AMER1 HPGD CHRND BIN1 RYR1 ATP5F1E HINT1 PHOX2B ATP6 EGR2 DEAF1 COG8 LRP5 CPOX IGF2 NDUFS2 UPF3B VPS37A KIF1C TTN CAVIN1 TGFB1 JAK2 ALAD ATXN3 SIX1 ABHD12 MAPT RET SLC25A46 COL25A1 ACTA1 UGT1A1 ADPRS CYTB IDUA COL3A1 AIFM1 PIEZO2 MAX COL6A2 DNM1L WASHC5 BIN1 YME1L1 SNAP29 ND6 PMP22 KLHL41 PGM3 IL12A PDHA1 TNFRSF1B PEX5 C19ORF12 DNASE1L3 AP5Z1 PEX26 TPM3 ELP1 ACTA1 DARS2 PRPS1 FKTN RETREG1 YARS1 PRPS1 OTX2 NALCN LMNA SEPTIN9 ARHGEF6 COLQ USP27X DMXL2 RAB18 POLR3A FMR1 PEX3 PMS1 DGUOK CYTB SNRPN AHCY KCNJ11 IGHMBP2 TNFSF11 STAT3 SPTBN4 BDNF PTPN22 SRPX2 NDUFA2 RYR1 SGPL1 PMP22 GBA2 NEFL EGR2 IFRD1 KIF1A OSMR JPH1 SLC39A14 MLH1 COL4A1 PDX1 ATXN8OS MTM1 GDI1 SDHD SH3TC2 SPART VCP RYR1 ANO5 ACTA1 SGCD NEB CYP7B1 DNA2 LYST NGF ABCD1 TWNK PEX10 CYP27A1 SLC18A3 NDUFAF6 LITAF SOX10 TRNW PEX2 GRIN2A NAGA ATXN3 CTLA4 DCTN1 FBN1 ND4 ATP13A2 AFG3L2 TRNS2 SYNE1 COCH TXN2 STUB1 SPEG RYR1 GARS1 NOD2 MFN2 NGF PRKAR1A TPM3 NDUFA10 SPAST NDUFV2 PSEN1 PIK3CA MYH7 LMNA DNM2 NDUFV1 RETREG1 GNA14 SBF1 BEAN1 SH2B3 TRIP4 CRPPA FAS KLHL41 TRNL1 NAGA WAS SMC1A AGXT SPG21 ND1 PABPN1 LIPT1 TLR4 SLC12A6 ADA2 TREM2 FDX2 DNAJC3 STAT4 GRIA3 ATRX MKRN3-AS1 LRP4 PLEC SLC12A3 VPS13A RAD21 OPA1 ADA2 NEB SCO2 ZNF711 ALG2 SLC33A1 CDKN1B ZNHIT3 MYF6 NDUFA9 MEN1 TRPV4 HADH RNASEH2C FAM126A CHCHD10 HINT1 B2M EPCAM ELP1 COL13A1 PEX16 PEX7 NFASC ITGB4 CBLIF PRRT2 DSTYK TPI1 SPTLC1 SCO2 SCN9A TPM3 HRAS SEMA3E DDB2 MYH14 DGUOK LRSAM1 ENG TGFBR3 MPZ PEX19 CHCHD10 HADHB ALS2 CHD7 TCIRG1 GJB1 ABCA1 ATL1 CHRNA1 CHRNE GFPT1 MTRR SMN1 GARS1 MSTO1 CHRNA1 PRPS1 ACSL4 MED25 MCM3AP GJB1 CHRNA1 MAG SPTBN2 PMP22 GCDH SAMHD1 NDUFS8 ELOVL4 MOCS2
Malignant gastrointestinal tract tumors
Genes 42
CTNNB1 BUB1 DLC1 STK11 MSH6 BMPR1A SMAD4 PIK3CA POLE FLCN SMAD4 MST1 AKT1 FGFR3 APC WRN EPCAM BMPR1A NRAS MUTYH PMS2 EP300 SRC BUB1B MSH2 APC AXIN2 TGFBR2 GREM1 NTHL1 MLH1 MLH3 STK11 APC PTPRJ DCC TCF4 TP53 APC GPR35 POLD1 APC
Neoplasm of the gastrointestinal tract
Genes 340
GPC3 SDHC SDHC MGMT MS4A1 SUFU APC EPCAM INS NFKB2 ABCC8 CDKN2B PALLD POU2AF1 BRCA2 FH HMBS GREM1 APC NTHL1 PTEN RAD51D MSH3 SLC25A13 PIK3CA RASGRP1 UROD KIT TP53 SDHD PRKCD RNF43 SLC37A4 SDHB BAP1 BMPR1A FAN1 CTNNB1 SDHD NEUROD1 MSH3 RPGRIP1L CDKN2B KEAP1 DICER1 WT1 MSH6 PSAP CDKN2A FGFR3 BMPR1A PTCH2 MUTYH CDKN2C BMPR1A CDK4 RELA EP300 ENG TNFSF15 SMAD7 AXIN2 BRCA2 TREX1 TERF2IP ICOS TNFSF12 CHEK2 COMP PRKAR1A PIK3CA KLF11 GPR35 ENG MLH1 STAT1 CDH1 BLK POLE CASP10 IL1B CASP10 SMAD4 H19-ICR SDHB RAD21 MTOR TRIP13 TRIM28 MEN1 JAG1 TNFRSF13B MDM2 BMP2 BRCA2 BCL10 PTEN POU6F2 GCK BUB1B KCNQ1 DOCK8 SEMA3C ACD KLF6 SMPD1 TP53 BUB3 DCC AXIN1 MEN1 MSH2 KCNJ11 TP53 PTEN JAK2 DIS3L2 MITF SH3KBP1 BMPR1A TP53 BUB1 BLM FAH CDKN1C BARD1 SPIB AAGAB RAD50 PHKG2 TNFRSF13C NBN MST1 MLH3 MSH2 IGF2 FLCN SLC37A4 PALB2 CDKN2A SETBP1 SDHC MSH2 CR2 IGF2 MLH1 MC1R IL12RB1 MEN1 RAD51 MLH3 MET MMEL1 SEMA3D H19 APC RNF6 PMS1 CHEK2 CDKN2A MSR1 CC2D2A APC TJP2 TNPO3 ECE1 TTC37 REST TMEM67 GDF2 AHCY CD19 HNF1A NRTN IL1RN TRIP13 IGF2R AKT1 ASCC1 FLCN BRCA1 SDHC HFE MLH1 PMS2 LMNA SDHC ACVRL1 RAD51C SDHD SRC GNAS BUB1 CHEK2 APC HBB PDGFRA PIEZO2 PMS1 STAT6 SDHB SDHB MSH6 RET APC KRAS INPP5E KRAS SETBP1 SKIV2L POLD1 FAS KRAS ARSA SMAD4 DLEC1 RNF43 DLC1 BMPR1A SDHB MSH2 PIK3CA HMBS SMAD4 EDNRB MUTYH G6PC SPRTN PAX4 RHBDF2 PIK3CA SERPINA1 FOXE1 PDX1 ATP7B CTHRC1 ABCB11 ERBB2 MLH1 CDKN1A RPS20 BRCA1 RPS19 HFE H19 POT1 TRIM28 GDNF TERT APC F5 APC AKT1 WT1 CTNNB1 CEL KIT TP53 GPC4 COL14A1 PRKCD HNF1A ATRX CASP8 HFE SMAD4 POLE DAXX AKT1 MSH6 HABP2 KCNQ1OT1 KIT EDN3 H19 NAB2 NRAS MUTYH CDKN1B BRIP1 TGFBR2 MRE11 HNF4A FAH STK11 TGFBR2 SDHD AXIN2 EPCAM AXIN2 TCF4 KLLN APC IL12A PTPN3 SEC23B TGFBR2 SEMA4A POLD1 PIK3CA PDGFRA MINPP1 FAS APPL1 APC CD81 WWOX SMAD4 STK11 CTNNB1 BMPR1A HBB C11ORF95 NFKB1 IRF1 SEC23B GPC3 WRN PTEN PALB2 SDHA PHKA2 PDGFRL PMS2 TNFSF12 RHBDF2 SDHB BUB1B FGFR2 FASLG CEP57 SLC25A13 IRF5 PIK3CA TP53 PTPRJ CDKN1B PTEN APC PTCH1
Peripheral neuropathy
Genes 879
GMPPA RNASEH1 TPP1 CYP27A1 ATXN3 HSPB1 ATP6 OPA1 ARL6IP1 AGPAT2 SLC5A7 ELOVL5 TPP1 AMPD2 HMBS TREX1 MPZ OPA1 INS AP5Z1 TIMMDC1 PNKP MPL SLC18A3 PDK3 HK1 TDP1 CTDP1 NGLY1 POLG PMM2 PSAP GCK AP1S1 RNF170 ERCC4 SPG7 KIF5A GBA2 POLG WFS1 CACNA1G RRM2B COMP MYH14 ERCC5 SLC19A2 SPG7 AIFM1 MEN1 TP53 AP1S1 MANBA TRNF MPZ MSTO1 MPC1 GABRG2 MFN2 SMPD1 PNPLA6 NEFL HLA-DPB1 NDUFS1 COASY ATP13A2 IL10 HLA-DQB1 SLC46A1 C12ORF65 ATXN3 ATL1 ZFHX2 NOTCH3 BMPR1A SNORD115-1 GBE1 ALDH18A1 ABCA1 AIFM1 NDUFAF2 TTR NDRG1 CD28 SH3TC2 GNA11 HARS1 VAMP1 SCYL1 CHST14 GJC2 ND5 NTRK1 SLC5A7 CTSD FLI1 POLG MPZ SCN4A HERC2 PRRT2 LIFR HSPD1 TMPRSS6 INSR HADHA PRKCG IARS2 PMS2 MATR3 MPLKIP PEX1 NPAP1 PPOX NTRK1 CRAT C19ORF12 SCP2 ND4 NGLY1 SDHA POLG ALDH18A1 BAG3 RMND1 ND1 PRX SLC2A1 XRCC4 MSH2 ATAD3A HMBS FLRT1 GAN SPG11 GNAS CAPN1 MARS1 ALAD SEPTIN9 NDUFAF5 NDUFB8 PMP22 KCNC3 SCN10A TRPV4 RAI1 GJC2 MTHFR AARS1 NEFL RPS20 CCT5 ZFR DCAF8 MPZ ARL6IP1 HNRNPA2B1 HSPB8 PDSS1 FGF14 CD59 DAB1 INPP5K TBP TTBK2 MATR3 POLG ERCC5 AR NDN DDHD1 PSAP TTR NDUFA12 ALDH18A1 ATXN8 SETX MFN2 SCN9A SIGMAR1 PEX10 COX3 SLC12A1 GPR101 UCHL1 BSCL2 GTF2E2 TGFB1 POLR3A GPI RNASEH2A TGFBR2 GDAP1 TWNK HLA-B COX2 KCNK9 MTFMT TTR RRM2B FMR1 RTN2 ERCC2 BTNL2 DHH SOX10 HADHA SCN11A POLG C12ORF65 SLC30A10 SPG21 FOXRED1 ATAD3A ATP6 ERCC3 PPARG SLC52A2 ERCC6 XRCC1 KCNJ11 ND6 ATXN2 PHYH SNORD116-1 REEP2 KLC2 PLEKHG5 TRPV4 CCR1 REEP1 ERCC2 SLC2A1 KCNQ1OT1 ATL3 SLC25A15 PEX6 WIPF1 KIF1A NDUFS3 HADHB TYMP PMP22 SLC52A3 GSN TBC1D20 NDUFS4 XK TWNK TRNQ DDHD1 MFN2 ATXN7 PSAP FGD4 KCND3 BSCL2 ARSA TFG TRNK ERCC3 GBE1 DNAJB2 AIFM1 MAPT LYST GNB4 PLP1 HFE HLA-DPA1 TFG MYD88 GLA SPTLC2 SERPING1 ATP6 GBA2 TRNE EGR2 MME COL1A1 NF2 GCLC SBF2 EDNRB KLHL9 TNFRSF1A MTMR2 APTX SLC25A4 VCP ATL1 KIF1A PIK3R5 HDAC8 FBN1 CALR MARS1 IL23R POLG PLEKHG4 ATXN8 ND4L DYNC1H1 MLH3 ND6 SETX MFF MYOT SHANK3 KRAS CUBN WDR48 MORC2 TWNK LIFR NAGS PDK3 TFG PRX FLVCR1 GNA11 SNAP29 KCNJ10 SNAP25 CPT1C TDP1 ND3 IPW POLG2 INS WARS1 HLA-DRB1 AFG3L2 ERAP1 SCN9A MSH6 GRM1 DGUOK ARSA BIN1 AAAS SPG11 CHAT CISD2 SCN8A ATXN1 POLR3B ATP1A1 PDYN GJB1 CACNA1A ERCC3 CTLA4 RNASEH2B IDUA CYP2U1 H19 SLC12A3 PPP2R2B HLA-DRB1 KIF5A MAGEL2 COX3 ERCC5 CHAMP1 PLD3 PEX11B POLG ND1 GDAP1 KCNJ11 PWAR1 SUCLA2 PNKP ADAR AARS1 RAB3GAP1 ALS2 GNAS NLRP3 PNPT1 GNAS AR TRNK SEMA4A XPA UBAC2 MFN2 GCH1 RAB3GAP2 CASR HSPB1 FLII C4A DARS2 ND2 KIF1A FA2H HBB PET100 NIPA1 MEFV WNK1 TGM1 TRAPPC11 PRKAR1A ERCC8 AMACR VPS13D VCP XPC MYD88 DHTKD1 RTN2 PHF6 ATN1 RRM2B SELENOI MTMR14 TIMM8A MPZ GTF2H5 AMACR AIFM1 ND5 SYNE1 TBC1D24 CTDP1 PDCD1 SCN10A COX3 ATP6 COX15 FUS ND5 ERCC4 RAI1 HSPB3 WASHC5 RNF168 PMP22 TYMP IQSEC2 FGF14 PEX12 GNPTAB MKRN3 GCK ND2 ATXN8OS SURF1 MYO9A SCN4A SLC19A3 MPL RFC1 APTX LAMA2 RFC1 DNMT1 PMP22 HNRNPA1 REEP1 TBCD DNMT1 RELA PDYN ATP7A SLC2A1 FLVCR1 GARS1 CACNA1A MAG ND2 DKK1 NAGLU PDX1 SURF1 SLCO2A1 CYP7B1 BRAF TOP3A NDUFS2 CLP1 PIK3R5 DEGS1 SHANK3 NDUFS2 ABCC8 NIPA1 IFIH1 TNXB NTRK1 GMPPA TBC1D24 PPOX ND5 COX1 IL12A-AS1 THPO FAH IARS2 JAK2 GALC ELOVL5 ND4L ATP6 IDUA CCND1 SURF1 IBA57 GDAP1 FXN FUCA1 AIP MME ASCC1 GDAP1 DHH COASY MYOT TRIM2 CA2 SAR1B SPG11 GJC2 FXN SACS ATP13A2 MICU1 POLG NF2 PPP2R2B IBA57 C12ORF65 TWNK SLC52A2 HFE TRNH SERPING1 AMN KCNQ2 LYST CASR FOS LDB3 DYNC1H1 BSCL2 SLC30A10 MPV17 HADHA TRNL1 SLC25A15 MICU1 OPA3 ERCC2 CAV1 AAAS KMT2A SCYL1 GLE1 PNPLA6 VPS13A B4GALNT1 KRAS ARSA TACO1 NOTCH2 CACNA1G ND1 GAN POLG OSTM1 SETX TRNS1 FIG4 CAPN1 TK2 ATP7B MME NIPBL VAMP1 KARS1 PSAP SERPINI1 GCLC FBLN5 HARS1 ATXN1 PTPN22 SCN2A ARSI KCNJ1 HSD17B4 COX1 ARSB SAR1B COA7 HSD3B7 VHL PDE4D CAV1 GDAP1 SLC25A1 STX16 SPG11 NOTCH3 REEP1 ACO2 LDB3 COQ7 NDUFA13 KLC2 SLC46A1 RAB7A TRNW TTPA SCN11A PMP22 KLRC4 TET2 RPIA ACER3 SIL1 PRICKLE1 TBCE C19ORF12 SYT2 ERCC1 PRPS1 GSN C11ORF95 PHYH ERLIN2 SAMD9L DST TBCE SCN9A KIF1A COX6A1 PMP22 IGHMBP2 CLCNKB TREX1 PRTN3 CLCF1 ALDH18A1 HSPD1 ND4 DYNC1H1 ERCC6 DNM2 ZFYVE26 MPV17 NDUFA4 PEX7 TRNW COA8 ECHS1 ND6 ABCC8 VCP PMP22 WFS1 MRE11 TARS1 TRNV ND4 ERCC2 INF2 KCNQ3 SPAST SPG7 PRKCG NDUFAF3 BSCL2 NEFH KIF1B SACS SERPING1 BSCL2 FAN1 AGRN PEX6 CCT5 RAI1 ABCC8 SMC3 DNAJC3 NDUFS7 DNM2 ZFYVE26 RNF113A SLC25A19 HSPB1 ARSA PMM2 PEX7 TUBB3 APP PWRN1 TWNK NAGA MPZ SETD5 NLRC4 HPGD ATP5F1E HINT1 ATP6 EGR2 DEAF1 COG8 CPOX IGF2 NDUFS2 VPS37A KIF1C CAVIN1 JAK2 ALAD ATXN3 ABHD12 SLC25A46 CYTB AIFM1 PIEZO2 DNM1L WASHC5 SNAP29 ND6 PMP22 PGM3 IL12A PDHA1 TNFRSF1B PEX5 C19ORF12 DNASE1L3 AP5Z1 DARS2 PRPS1 RETREG1 YARS1 PRPS1 LMNA SEPTIN9 DMXL2 RAB18 POLR3A FMR1 PMS1 DGUOK CYTB SNRPN AHCY KCNJ11 STAT3 SPTBN4 PTPN22 SRPX2 NDUFA2 SGPL1 PMP22 GBA2 NEFL EGR2 IFRD1 KIF1A JPH1 MLH1 PDX1 ATXN8OS SH3TC2 SPART RYR1 CYP7B1 LYST NGF ABCD1 TWNK PEX10 CYP27A1 NDUFAF6 LITAF SOX10 TRNW GRIN2A NAGA ATXN3 CTLA4 FBN1 ND4 ATP13A2 AFG3L2 TRNS2 SYNE1 TXN2 STUB1 GARS1 MFN2 NGF NDUFA10 SPAST NDUFV2 PIK3CA NDUFV1 RETREG1 GNA14 SBF1 BEAN1 SH2B3 TRIP4 FAS TRNL1 NAGA WAS SMC1A AGXT ND1 LIPT1 TLR4 SLC12A6 FDX2 DNAJC3 STAT4 GRIA3 MKRN3-AS1 SLC12A3 VPS13A RAD21 OPA1 ADA2 SCO2 SLC33A1 MYF6 NDUFA9 TRPV4 HADH RNASEH2C FAM126A CHCHD10 HINT1 B2M EPCAM ELP1 COL13A1 PEX7 CBLIF PRRT2 DSTYK TPI1 SPTLC1 SCO2 SCN9A DDB2 MYH14 DGUOK LRSAM1 MPZ HADHB ALS2 GJB1 ABCA1 ATL1 GARS1 MSTO1 PRPS1 MED25 MCM3AP GJB1 MAG SPTBN2 PMP22 SAMHD1 NDUFS8 ELOVL4
Polyneuropathy
Genes 59
GCLC NAGS SLC12A6 ERCC6 AIFM1 C12ORF65 PSAP CYP7B1 COX3 PEX11B ATP6 ARL6IP1 COQ7 OPA1 PIK3R5 SH3TC2 LDB3 PEX12 ALAD ABHD12 FAM126A EDNRB NGLY1 ND2 ABCD1 CYTB PEX7 RPIA GSN TBC1D24 GRM1 SNAP29 TTR ND5 PDK3 ND4 GSN DGUOK PMM2 ND4L DHH ND1 TTR SEPTIN9 FUCA1 DARS2 PRPS1 SETX SLC25A19 PDYN ATP7B ERCC8 DHH DMXL2 MYOT MYD88 ARL6IP1 CD59 ND6