NASH Fitness Intervention in Thrombosis Trial (NASHFit)

Nonalcoholic fatty liver disease (NAFLD) is the leading cause of chronic liver disease in the United States. The most advanced forms of NAFLD are associated with increased liver-related mortality and lower overall survival. The current standard of care for NAFLD is lifestyle changes through diet and exercise. The human genome and regulation of gene expression is influenced by physical activity. NAFLD is a prothrombotic state with derangements in all three phases of hemostasis leading to clinically important clotting events. Exercise can improve coagulation in healthy persons. In this proposal, we seek to begin a line of work to answer the question "Can lifestyle changes effectively mitigate the increased risk of clotting in patients with NAFLD?" focusing initially on the at-risk population genetically susceptible to advanced disease.

NCT03518294 Liver Diseases Blood Disorder Digestive System Disease

MeSH:Liver Diseases Gastrointestinal Diseases Thrombosis Hematologic Diseases Digestive System Diseases

HPO:Abnormality of blood and blood-forming tissues Abnormality of the gastrointestinal tract Abnormality of the liver Decreased liver function Elevated hepatic transaminase

1 Interventions

Name: Aerobic Exercise

Purpose: Treatment

Allocation: Randomized

Parallel Assignment

There is one SNP

SNPs

1 rs738409

Patatin like phospholipase-3 (PNPLA3) rs738409 polymorphism.

Patatin like phospholipase-3 (PNPLA3) rs738409 polymorphism (GG, GC and CC genotypes) plays a crucial role in the development of NAFLD.

HPO Nodes

HPO:

HP:0001871: Abnormality of blood and blood-forming tissues

Genes 1877

TCAP CTC1 KLKB1 TET2 RPS27 MYH9 SLC25A38 COL1A1 COL5A1 TCF4 RPS24 SERPINF2 ALX4 MPL TSR2 EXT2 EFL1 ATM CAP2 SDHC BCL10 OTULIN CD8A OCRL CHD7 FOXP3 PROS1 ASXL1 PRKCD PLEKHM1 SETBP1 FCGR2C GCDH MALT1 PKLR SERPINC1 THBD SLC4A1 ERAP1 FLI1 CYB5R3 F5 GGCX DNASE1L3 SUFU FOXP1 TGFB3 PIEZO1 VWF KLF1 PGK1 VPS13B LOX CTRC EGLN1 SOS1 GINS1 EIF2AK3 MECOM FASLG GP9 F2 TNFSF12 KIT LMNB2 NDUFS3 AEBP1 GNE XRCC2 SLC29A3 EPO COX6B1 SPTB VHL SGPL1 GNB1 SRD5A3 CBFB SPARC MLH1 AEBP1 EPHB2 TGFBR3 NHP2 CLPX NFKB1 FCGR2B F13B TRNS1 PTEN PTPN11 MPL PRLR NUTM1 STAT3 TEK SERPINF2 FBN1 STAT3 SSR4 FKTN TPMT SLC2A1 PARN NRAS VPS13A GBA SSR4 LEPR BLM ACVRL1 KRT14 ANKRD11 SH2B3 DNMT3B RAD54B IFNG RPS19 RPL35A HLA-DPA1 GUCY1A1 SDHB CXCR4 GPI ECHS1 AKR1D1 ACD MPL RUNX1 MAN2B1 ACSL4 HBG1 MVK PROS1 STAT1 FN1 JAK2 AMACR PFKM GP1BB KCNE5 GATA1 BRCA1 ZBTB24 RFWD3 PIK3R1 HBA1 NDUFS2 TGFB3 RPS28 COL4A2 COL7A1 JAK2 MPI SMPD1 RPS17 ABCA1 ICOS NUMA1 DKC1 LIG4 NBAS ITGB3 ND5 SDHD PEX3 SMAD4 BCL6 MYC STAT5B GBA LMAN1 PMM2 JAK2 NTHL1 FLNA STIM1 HOXA11 VHL MRPS7 EPHB4 MMUT TGFB1 BRCA2 F13A1 SCN5A SLC17A5 ORAI1 GFI1B NABP1 PUS1 SLC19A2 NSUN2 PHKG2 CYP2C9 NBN KRAS TXNRD2 STAT3 PEX1 SRC PRF1 EOGT PHGDH HLCS FERMT3 LAMB3 ATM COL7A1 MYH9 THPO NDUFA10 TERT TF MECOM PIGT NPM1 NDUFS1 ITGA2 KCNJ11 KIT SLC4A4 LPIN2 CASR TPP2 COL4A5 CD3G NDUFAF3 ABCG8 CASP10 CYB5R3 RBM10 SLC46A1 UBE2T TACO1 COL7A1 RNASEH2B NDUFA9 GSS SMAD4 F10 PSTPIP1 BCR CD79B RPL18 RPS26 IKBKG FAH COX20 GATA6 FANCE RIN2 ARF1 HBA1 KIF11 RFX5 NPHP1 CHD7 OCLN TPI1 MPIG6B GNAS CLPB PSAP FOXRED1 CARD9 PHGDH SLC35A1 CARD11 RRAS NOD2 APOB SDHC HTRA2 SLC19A2 BAG3 RIN2 LYST RPL5 GP9 TCF3 FECH CACNA1S HLA-B CIITA HAMP CDAN1 PROC CBL ADAR GTF2E2 PLG RPS17 PARN COL3A1 RFXANK BMPR1A STX11 TET2 GALC ADA2 HNF1A SH3GL1 TTI2 IL23R PMS1 FGG RFXAP COL4A1 FLNA PRF1 COG1 MTAP FANCA MSH6 AMN NDUFA13 COL5A2 SERPINC1 PRLR CD151 MYH7 TONSL GTF2H5 PIK3CA FANCM KCNE1 GGCX VHL ABCA1 CAPN3 PIEZO1 ARHGAP31 RBM8A PSEN1 CTLA4 RPS15A HELLS GFI1B EPCAM NF1 HPRT1 TRIP13 MPLKIP RAG1 MYLK RASGRP1 MLLT10 MTHFR PDHA1 F5 TNFRSF11A IL10RA PCNT HLA-B CTRC SMARCD2 PLOD3 SPTA1 PTPN22 SLC17A5 KCNJ11 F12 TFR2 TREX1 BTNL2 SLX4 TNFRSF13B OPA1 NEXN CYBA GATA1 ADAR DKC1 ARPC1B FGB VPS45 ALG12 SCO1 CR2 VWF SMAD3 GATA1 RPS15A APOE FANCI LYST TET2 STT3B ATOH7 ABCC9 HBG2 MMP1 RPSA HBB PDX1 JAK2 COL17A1 LYST HBB RNASEH2A PIK3CA C2 CIITA SFXN4 RET PEX16 HBB-LCR CYP7B1 BRD4 GNAS GSS A4GALT F13A1 TTC7A FLNA FARSB GATA1 KRT14 HNF4A MLH3 CLCN7 CLPB GDNF TAF1A GBA CBLIF ALG2 GATA2 ARL6IP6 G6PD TERT IL2RG KLF1 RNASEH2C SRP54 ABCC8 SLC20A2 CYP2A6 IGHM FOXN1 SLC2A1 TAZ TMPO NOTCH3 CYP4V2 SCARB2 CD70 SPINK1 MUC1 FAM111A RAB27A NOTCH1 DPM1 RAG2 LAMC2 PEX12 NT5C3A RNU4ATAC IRAK1 DAXX MST1 RAF1 NHEJ1 TNFSF12 GNAS TRMU KCNQ1 ALAS2 PDE4D CBL TCF4 NHP2 SLC39A13 CCM2 APC DLL4 TERT DNAJC21 UNC93B1 CTSK HBB RYR1 AKT1 FLNA MVK G6PC3 ANK1 TEK NHP2 ETV6 CFH RIT1 UNC119 HBB RAG1 STEAP3 PPCS CDCA7 IGH CCND1 DCLRE1C VPS33B PGK1 F8 LMNA TRNQ PAX4 COL7A1 MDM2 COX8A PTF1A WAS ABL1 KDM6A FANCE ICOS SDHD LIG4 KIF23 HLA-DRB1 FANCF TET2 TSC1 SLC4A1 NDUFS2 STT3B ADA2 TGFBR2 GFI1 CFTR FOXN1 FANCD2 FKBP14 ATP11C VHL GLA CDC42 TERT ARMC5 SLC25A11 MAP1B BIRC3 STXBP1 ASAH1 RFWD3 NAXD GLA TNFRSF13B FANCL YARS2 F7 THRA GBA AKT1 RPL27 PLOD1 FIBP FLT1 COMT MVK GBA KIT MTFMT CFB WAS NFKB2 AK2 TMTC3 TGFBR2 UMPS CDC42 SLC4A1 TRNS1 FADD PARN DDOST CHEK2 COX1 LIPA ANGPTL6 GCNT2 GATA2 ACTN4 ABCB7 ZBTB16 FUCA1 BMPR1A ND4 CAPN5 KCNN4 PTEN TREX1 SLC2A1 GLB1 RPS27 RPS26 PTPN22 HYOU1 HPGD C1QA TGFB1 CBS SLX4 RAG2 PICALM TERC MMUT KCNN4 HMOX1 ENG BUB3 RYR1 FANCA DYNC2LI1 ELANE PET100 TERC CCR1 MAD2L2 MPDU1 ERCC2 KRAS FOXP3 CD3E CD19 KIT HLA-DRB1 GCLC COX14 CSRP3 ACAD9 FLT3 CRIPT CEP57 TREX1 CD3D WIPF1 SLC25A13 PEX12 TERC BCL11B TRNN NDUFV1 BLNK PTPN11 IL7R PDGFRB RHOH F5 CTLA4 RARA GPC1 F13B HLA-B NUMA1 KRAS TNFAIP3 JAK3 EPAS1 NDP GALT ITK PRKCD ABCD4 IDH1 RUNX1 FOXE3 ATRX CLCN7 GATA1 NPM1 COL1A2 PEX26 TAZ ANKRD26 LAMTOR2 ELN EPB41 TCN2 SLC12A3 PRDX1 WFS1 NRAS CISD2 GLRX5 LRRC8A COA8 SH2B3 OSTM1 CEBPA KLF1 FIP1L1 CPOX TRNT1 CALR SPTB TBL1XR1 TERT IL2RG MDH2 MMADHC ICOS FBXL4 MARS1 TNNC1 RASA2 GREM1 VCL ACP2 MMP1 NDUFAF2 ATP7B TP53 HBB TGFBR1 CLCN7 SCN11A SOS1 HIRA DPM2 TFAM CCBE1 APP ELANE NUP214 KMT2D SEC63 ADAMTS13 BUB1B NBN FANCF CARD11 CD36 PLVAP FAS PTH1R PDGFB CLCN7 ADAMTS2 WAS PCCB HLA-DPB1 ARHGAP26 DLST PGM3 POLE ADA PANK2 GDF2 RFXANK CYP26C1 UROD SIK3 SEC23B RPL31 TP63 HBG1 DNMT3B NLRC4 BMPR2 COQ2 PFKM BTK NBEAL2 EPOR ITGB4 TBX2 NDUFS4 RASA1 MAT2A CASP10 ATRX PRKCSH F9 SOS2 PIK3R1 RRAS2 COL3A1 CHST14 HAX1 GNAQ PRDM5 SDHB PRKAR1A ITGA2B SLC7A7 CYTB KCNQ1 CDH23 SAA1 ATP6V1A RASGRP2 LBR KCNJ11 CD79A ATRX ANK1 ATM RNASEH2B PRSS1 ETHE1 TNXB SPTA1 RTEL1 IRX5 GDF2 PMS2 GBA HBB HBB TSC2 GP1BB ATR ADA2 CASR SGCG PNP ETHE1 NPHP4 TP53 PSMB8 RAD51C LARS2 CYP11B2 TCN2 KIT AGA SMARCAL1 MYD88 APOE TRAC NPM1 IKZF1 PHKA2 GNAQ GLB1 HPS3 NDUFA2 KRT5 GATA2 TMPRSS6 PLEKHM1 BAP1 TP53 TNXB PGM1 GATA2 LMNA IKBKG ALDOB TGFBR1 CTLA4 IL12B MAX PRDM16 MYD88 ZNF341 ABCC6 IDH1 NDUFS8 TERT GATA1 BCL10 SPP1 CYBB CUBN PTEN NBEAL2 CCND1 NOP10 GP1BA SDHB MSH2 PLEC ABCB6 GLB1 UNC13D TRNW CCM2 JAK2 MMAB RET SDHA IGHM FZD4 ANK1 CFH LBR TAL2 NF2 HOXA11 ANO6 MYH6 NIPBL HBA2 CISD2 TET2 DOCK8 MPL CYCS CREBBP ATP6V1E1 IFIH1 GP1BA THBD SPATA5 SRD5A3 NDUFS7 EPG5 TBXAS1 ATP7A IL2RG MYORG IDH2 FLT3 TGFB2 NR1H4 MLX HLCS CD40LG ERCC6L2 GATA1 TTC37 DNM2 CFI IVD UBE2T BRAF NEU1 DOCK6 RBPJ SERPIND1 RNF43 HSD3B7 VPS33A CTRC TSR2 TRNL1 PNPO PLEC TP53 TINF2 MCFD2 ALG6 CR2 DSE CASK PDCD10 CD3D GBA ACTN1 TINF2 ZBTB20 TACO1 RPS20 RPL35A ACTN2 IL7R TCIRG1 BMPR1A CFI BMPR1A LAT ACVR1 CHST14 ADA MTRR TBX1 PEX11B B2M ND1 EPO MAP2K2 NFIX SAMHD1 INS HBB COL1A2 AIP CLCNKB COL4A1 RPS10 MTHFD1 COX2 FASTKD2 AASS BRCA1 UROS PIK3CD CORIN SBDS CD81 RHAG NCF2 CP TNFRSF1B RMRP RECQL4 B4GALT1 COG8 NPHP4 RHAG BCL11B SLC30A10 SPINK5 SMPD1 REN RPL35 CBS UBE2A LMX1B NDUFB8 FTCD FGG SPTA1 LDB3 MEFV SLC11A2 CA2 PSEN2 ALAD RAG1 RPL26 DCLRE1C F5 FGA STAT3 TAZ CYB5A SEC24C TSC1 RAF1 ELANE ACTC1 C1R APOA1 NF1 AGK ATRX ADAMTS3 TET2 UMPS SLCO2A1 RTEL1 TMEM67 FANCC HBA1 ZNF469 TNFSF11 SDHA RPS14 HAVCR2 MSH2 WRAP53 PEPD ACAT1 SPTA1 ACVRL1 PIGA RS1 COL5A2 DOCK2 KRIT1 NDUFA12 SNX10 APC GP6 GATAD1 FGB FHL2 NDUFV2 BCOR MTRR ALAS2 ERCC4 PIEZO1 SBDS VPS13A NFKB1 SDHD IFT140 GBA PTPN11 TREM2 MMACHC NPC1 FZD4 PEX5 SH2B3 MAP2K1 ERCC4 STIM1 FIG4 LAMA4 ITGB4 GLI1 PSMB4 HPS1 DNASE1 HBA2 ALDOA MTTP TET2 LRP5 CALR SRSF2 RPS7 NDUFAF6 PEX10 NPHP1 RPL15 FMO3 MMUT RAC2 F11 KIF1B RAB27A SLC2A10 RREB1 SLC2A1 SLC19A3 CST3 MPL SLC35A1 FANCC CD46 PGM3 F9 SLC4A1 SLFN14 LRP5 NFKBIL1 CYP4F22 G6PC RPS7 F11 MCM4 ABCC2 HLA-DRB1 AMMECR1 SERAC1 ABHD5 TICAM1 SARS2 SBDS TERT GP1BB EFL1 COX4I2 STING1 KRAS CA2 FARS2 ABCC6 DKC1 CYBC1 USP18 MAX WAS SP110 PALB2 UBR1 PUS1 C1R PRTN3 MSH2 RECQL4 SALL4 IL2RB MEFV RAC2 PIGL MPL ATP7B RPL27 USP8 LCAT CCND1 C3 XYLT1 TERT ENG CD59 CD109 CEL TBXA2R DPAGT1 SRP72 MPO TRNF LPIN2 CD247 VKORC1 COL3A1 DNAJC19 PTEN SMPD1 AK2 FLI1 STK11 BEST1 RPL11 CALR ITCH CRYAB PTPN22 COPA TUBB1 CFHR1 PRKAR1A CTCF RPS29 ATRX SCO2 DGKE MYSM1 USP8 SLC29A3 KIF1B CD3E ZMPSTE24 MTR PML ARFGEF2 TRNT1 VHL SRP54 SRP54 SMAD3 SLC27A4 AKR1D1 SMARCAL1 SC5D ATP7A SPTA1 SLC39A13 TYROBP ABCC6 COL3A1 TDP2 C1GALT1C1 GSN FANCL SDHB PEX14 ATRX HSPA9 ABCC8 BCL2 TERC SF3B1 TTN CYSLTR2 SMARCB1 F7 SERPINE1 USB1 SLC22A4 HBB GATA1 PSMB9 RFXAP COL4A1 ACD CP TMEM127 GYPC ABCB7 IGH CD28 FANCI FAM111A LMBRD1 HBG2 FYB1 TMEM127 RHAG ALDOB TNFRSF13C TBC1D24 CD27 UBAC2 ACAD8 RFT1 NLRP3 PNP USB1 TSC2 PTPN11 GNA11 ADA HSD3B7 RAG2 RMRP PRSS1 FDX2 VKORC1 CLCN7 NGLY1 TF NCF1 JAK2 SCN9A SEC61A1 F2 ERMARD TGFB2 STEAP3 LMBRD1 RB1 MYH11 TARS1 CLDN1 RET FGA TNFSF11 BRIP1 PNPO APP ITGB2 COL1A1 P2RY12 AMMECR1 RPS10 KRAS SDHAF2 TRAF3 PDGFRB HBB GATA2 ITGB4 SAMD9L TNNI3 GNAS MYBPC3 IGH SDHA TPM1 FANCD2 SDHA XIAP TCIRG1 NHLRC2 LIG4 PRKAR1A COL7A1 BRCA2 KCNJ1 DLL4 RMRP SDHC HBA2 NUP214 EPB42 C1S TRNW THPO RPL11 IL2RA KIT PRKAR1A BCS1L MYPN SAMD9 PACS2 TRNH KRT14 PLAT TCF3 RPS19 GPR35 HPS4 TBX1 PRKCD KCNJ5 SGCD ACTA2 SCARB2 NLRP3 APOE TCIRG1 RAG2 FLI1 DNMT3A FAN1 PKLR FAS FERMT1 CYP7B1 PROC HADH ADAM17 VPS13B PRKACG LPP BLOC1S3 TBK1 ATP6V0A2 COLGALT1 CTC1 TAL1 RNF168 LIPT1 IFNGR1 BCL10 COL1A1 XRCC4 GALT PLA2G4A KLF11 SF3B1 WDR19 GNAQ IGLL1 SURF1 TALDO1 FGG AGXT PDCD10 MPL MMADHC HK1 GP1BA ENG PRSS1 PDGFRA PDE11A CTPS1 BAP1 ATP7A TLR3 PEX13 AMMECR1 GGCX FGA XK APPL1 CPT2 PEX6 XPR1 TNFRSF1B YARS2 DCLRE1C EVC2 HABP2 COL5A1 AHCY XRCC4 MYH7 APP IL12A WT1 FASLG IKZF1 STOX1 RPS29 BUB1 PRKACA KRT5 ENG SDHD FGFR2 PSMB8 STS IL12A-AS1 WFS1 MLH1 SMAD4 TINF2 COX10 DOLK ASXL1 PEX2 LYRM7 ATP6V0A2 DHFR RPL15 HBA1 LCK RANBP2 TGFBR2 NDE1 DNMT3A RFT1 LZTR1 NEDD4L WAS STN1 PTEN SEMA4A EPB42 NBN UFD1 MYSM1 APP SMAD4 RNASEH2A LRBA C4A ARHGEF1 DNAJC21 ITGA2B HMGCL RAG1 HELLPAR TNNT2 NFKB2 FBN1 NOP10 JMJD1C RAF1 FGB CD46 HMCN1 PALB2 RAG2 FAT4 DGUOK FCGR2A ITGA2B HPRT1 POT1 TBCE POMP ABL1 FUT8 DES FAS NCF1 PROC RAD51 EWSR1 MMAA INHBA CAT FGA PIGL PEX19 SEMA3E FGB EPB41 IFNG LBR EVC LAMTOR2 VWF LRP5 CCND1 MET RPL5 ITGB3 CST3 CYB5A HBA2 LEP LAMA3 KRT5 IRF2BP2 TCF4 TCIRG1 STAT4 CTNNB1 KRT1 CORO1A STK11 SPATA5 NRAS FGG SF3B1 ACP5 CD19 RPL26 CSF3R DLD AK1 DTNBP1 ADAMTS2 NEBL NLRP12 RPS24 RNF113A HMGCL JAK2 BLM LBR HBB TNFRSF1A EPAS1 KIF15 PCCA SH2B3 ABCD3 BRAF TINF2 AGGF1 RAG1 UROS F8 IREB2 SALL4 CPA1 KIT ALPL BMPR1A DNAJC21 CYBB FANCB LAMA3 RPS28 PLN PDGFB CYP11B1 CACNA1D MSH6 RUNX1 DOLK CD247 HBG2 PADI4 WRAP53 PANK2 ATP6AP1 SMAD3 ERCC3 HRG CTLA4 ETV6 CFTR STK4 F2 ND6 PET100 EP300 CHIC2 NLRC4 XYLT2 HBG1 COX15 DSG2 SCN10A DOCK8 DNAJC19 PRF1 SC5D PIGM PMM2 SPINK1 LIPA HAVCR2 IL10 KLRC4 NOS3 SAMD9L ALAS2 KIF1B SLC30A10 F9 MTOR HBB ENPP1 POLG LAMC2 NLRP3 HPS5 FH LAMB3 SLC37A4 MCFD2 HBD KLHDC8B CEBPE HBA1 JAK2 SHPK ISCU DNM1L ELANE IDH2 MAGT1 GNA14 CAD IL7R ACAD9 ESCO2 HPS6 LRP5 NSMCE2 COL14A1 RHBDF2 MPL MMACHC IFIH1 JAK2 SLC40A1 NCF2 RPL18 LIG4 SURF1 FANCG ITGB3 SLC35C1 MYC CD79A SBDS BRIP1 BCR KRIT1 PDGFRA BLNK ANKRD1 ALG8 CD4 MSH6 APP TALDO1 BUB1B CTLA4 CD81 GCK RAD54L NOTCH1 STIM1 DBH NCF4 SMAD4 STAT1 TTC37 TMEM165 RPS14 BCR CD244 PRF1 MSN C4A TNFRSF13B CALR PTPN22 SPINK1 CD28 ATP7A CIITA F13A1 ABHD5 LARS1 TET2 GFI1 CFHR3 PROS1 MFAP5 PKLR BMS1 SLC25A15 TNFRSF13C SLC4A1 F10 MGAT2 SKIV2L CXCR4 CLN3 RTEL1 SLC46A1 CD55 TLR4 GFI1 TINF2 NPC2 RBM8A PLEC NDUFAF5 COG4 SDHB AP3D1 ELMO2 IL10 ITGB3 DDX41 SAR1B RAG1 RBM20 LMAN1 COA8 TFRC CASP10 EXTL3 STAT4 PLEC ARVCF SH2D1A ERF COX3 ZAP70 C15ORF41 RNU4ATAC RNASEH2C TYMP COL5A1 GPX1 TREX1 NDUFA4 FH GCLC COG6 COG4 SLC7A7 CYBA NLRP1 CBL RFX5 MS4A1 CFHR1 JAGN1 PLAU PUF60 COL1A2 AIRE BPGM TRNS2 BLOC1S6 FANCG SAMHD1 LIG4 TNFRSF4 CFHR3 NLRP3 IRAK4 PRKG1 PRSS2 DIAPH1 SLC4A1 HBA2 BLK SNX10 KIT RRM2B AAGAB ITGA2B RARA CD40 NEUROD1 PHF21A MLH1 FANCB FKBP14 EXTL3 GP1BB XIAP CTNNB1 SPTB PIK3R1 NAGS DMD TTC7A JAK2 APC PMS2 PRSS2 PLEC PLOD1 GP1BA MRAS FAS STXBP2 HBB NBN PTPRC KRT14 VPS33A GP1BA MAD2L2 FECH AP3B1 CDKN2A TBXAS1 ERBB3 A2ML1 WIPF1

Protein Mutations 3

C282Y H63D T315I

SNP 1

rs738409

HP:0011024: Abnormality of the gastrointestinal tract

Genes 2032

SMC1A FUS WHCR COL13A1 CTC1 MYO5B SYNJ1 COL1A1 COL5A1 TCF4 PTS REPS1 RRM2B C12ORF65 CFC1 CHRND EFL1 SDHC SETD5 SMO OCRL FOXP3 PACS1 PMS2 PNKD RET PTPN3 SETBP1 KY FCGR2C GLUD2 ASXL1 USP9X RAD51C MAFB KIF7 RECQL4 MAP2K1 PTCH2 ERAP1 POLG TP53 TGFB3 TSPAN7 PIEZO1 CLMP NFIX NDUFA6 PRKCG CTRC CHAMP1 EIF2AK3 EFEMP2 GLI2 ACTA1 MAPT GP9 VAMP1 TNFSF12 PITX2 KIAA0556 SMG9 ND3 XRCC2 ACOX1 CDKN2B ACTA1 DNM1 SOX10 ATXN3 MLH1 ACTA1 POLG RPL10 VAMP1 ERLIN2 CHRND TIMM8A NHP2 OPTN NFKB1 F13B FBLN5 TRNS1 H19 MSH3 TEK MNX1 MLH3 CDK4 SDHC VPS13A SLC9A6 SSR4 ZIC2 ACVRL1 MFF ANKRD11 SQSTM1 APC USP9X DNMT3B TPM2 UPF3B PAK3 HLA-DPA1 CHCHD10 GATA6 SDHB MAPT GBA2 ARL13B GCH1 MSH2 SLC25A13 AKR1D1 TOP3A BAAT CHEK2 FOXF1 STAT1 CYP7B1 SEMA3D ASPA AMACR GP1BB APC CCDC22 SLC52A2 SPG7 CTNS SOX2 BRCA1 RERE ZBTB24 RFWD3 NDUFS2 ASXL1 COL7A1 JAK2 MPI HMBS AGTR2 UROD F12 DKC1 ITGB3 ND5 PEX3 ACADVL PRPS1 GPC3 AGRN FTL XRCC1 UBA5 ERCC2 CAV1 RPGRIP1L ADAT3 MYC DMD CEP57 LMAN1 NUS1 FGF20 SDHB ALDH18A1 JAK2 EXT2 NTHL1 MEGF10 ACOX2 CCR6 MTOR DEAF1 MYLK KBTBD13 MAPT PANK2 HDAC8 LEMD3 TRAPPC12 COG4 SPINK5 BRCA2 DDHD2 F13A1 GLI3 GFI1B GPC3 RARB PIEZO2 MAPK1 KIFBP NSUN2 PHKG2 NBN PLXND1 STAT3 FAT4 PEX1 EOGT PHGDH SYT1 MKKS CDC6 EDN3 TANGO2 RET SCN4A ZFP57 GDNF COL7A1 AKT1 MUTYH ARMC9 SDHB CYP27A1 GABRA2 TERT SALL4 APC OSGEP ALDH18A1 PAX3 ITGA2 USP7 SLC2A2 LPIN2 SMC3 RB1 TBCE VAMP1 CD3G GLRA1 H19 PSEN1 NDUFAF3 MECP2 WNK1 TWIST2 RBM10 SRCAP PIK3CA LMNB1 KIFBP SHROOM4 SLC46A1 CHRM3 TXN2 TBX4 UBE2T SETX COL7A1 TPM3 SLC9A3 FLAD1 SMAD4 F10 ZSWIM6 SH3KBP1 CD79B PIGO LMNA FREM1 SLC9A7 ABCB1 FBN2 FUZ ASCL1 JUP GREB1L FAH KIT RIPK4 GDNF GATA6 ALG13 MRPS34 TRAPPC11 ARF1 DHCR24 RFX5 KLHL40 HNF1A KEAP1 CHD7 SLC52A3 TERC RRM2B EDNRB MITF PIK3C2A STAT6 SH2B1 C19ORF12 FGFR1 ARNT2 HTRA2 SLC19A2 IRF1 SEC23B PYROXD1 PARN SETD5 MGMT RPL10 DLX4 GP9 TCF3 NRXN1 MYO9A MECP2 HLA-B NOTCH2 GRIP1 DACT1 BUB1B MC1R ARID2 BRAF GAS1 MBTPS2 SOX10 PLG PARN SRC TRAPPC11 GDNF TPM2 TRMT10C RFXANK CAV1 SLC25A24 BMPR1A CASP8 DHCR7 TSPYL1 HNF1A ST3GAL5 RNASEH1 GRM1 TRIP13 IL23R MTTP PMS1 RFXAP KCNA2 ACTA1 ATXN1 FLNA ADNP FANCA MSH6 TTBK2 RRM2B TMPRSS6 POU6F2 APC SON PIK3CA FANCM ATP6V1A RET ARHGAP31 RBM8A FBXO7 HELLS EPCAM MEN1 TERT UBA5 HESX1 FA2H TRIP13 ZAP70 UBR1 CDKL5 AKT1 APC MYF6 NXN TBK1 RASGRP1 PPP2R3C MYORG MRE11 TCF4 ND5 IL10RA LRP2 HLA-B GTF2I DLC1 IRF5 KCNJ11 SYNGAP1 BTNL2 SLX4 OPA1 CYBA TP63 RAD21 KLHL7 DKC1 ORC4 VANGL1 ARPC1B PPP2R5D TCOF1 PCSK1 SRCAP CTNNB1 PLG PTCHD1 VWF USP27X ATXN3 PGAP2 WDR26 FANCI PYCR1 LYST TP53 UPB1 MUTYH ANTXR2 MMP1 PDX1 TANGO2 ATXN8OS KIF5A FIG4 BMPR1A WWOX RPL10 ERLIN2 CIITA SI GPC3 TPM3 PEX16 FOXG1 CYP7B1 PALLD VAMP1 PLCG2 GATA6 OSGEP ZNF711 TRNE PARS2 TTC7A FLNA OTX2 FARSB DDHD2 VAPB ARL3 NONO MED12 HNF4A NUP107 MLH3 SPG11 TMEM231 FMR1 AHI1 CHN1 CBLIF MYOD1 SEMA3E RERE CCN2 KLHL40 LAGE3 WT1 SRP54 ABCC8 DYNC2H1 ATRX GPC4 ALS2 IGHM ATP1A3 PHOX2B FGF12 BCR SPINK1 SDHD DDX59 IL6 MAP3K7 GABRD CTBP1 NOTCH1 ATP8B1 LAMC2 ADH1C PEX12 MKS1 IRAK1 EDN3 HCFC1 SACS DAXX TBK1 MST1 SLC6A9 TGFBR2 EXOC6B TCTN1 TNFSF12 FTL DOK7 TCF4 ITGB4 APC TRIM28 DNAJC21 MED17 NECTIN1 NAB2 RECQL4 KRAS CLCN4 EDN3 FLNA MVK C12ORF65 PIK3R5 FAM13A SFTPC CDKN1C TYMP KRAS GDAP2 PALB2 MED12 TK2 TMEM67 TEK RYR1 NHP2 MCM6 FGF8 IL1RAPL1 TDGF1 SNRPB QDPR CDCA7 CACNA1A IGH RET CAMTA1 SOX10 PGAP3 F8 CACNA1G ATP6 TRNQ LONP1 SIN3A PAX4 COL7A1 FGFR2 VPS35 PAK1 CC2D2A MDM2 SNCA NEK1 PQBP1 WAS ATXN3 CHMP2B CFTR KDM6A TGFBR1 FANCE ICOS RFX6 IL12A LIG4 KIF23 PARK7 HLA-DRB1 MKS1 CACNA1G DMP1 COQ4 ADA2 SMC1A GMPPA MLH1 GFI1 RET RNF125 COX7B FANCD2 SOX2 ACTB DYNC2H1 NEK1 DDX59 PALB2 GLA IL1B DSP TERT FOXE1 MAP1B IQSEC2 WDR73 ABL1 STXBP1 RFWD3 DLG1 NEUROG3 ND1 ERLIN2 TGM6 FXN CDKN1B NEK9 TNFRSF13B FANCL FRAS1 SPG21 ND6 WDR73 HIVEP2 SKI UBTF EXT2 SLC5A7 STAG1 FLT1 COMT GBA ACTB ATXN8 WASHC5 NAA10 WAS AK2 TRMT5 TMTC3 SOX10 TGFBR2 L1CAM MYO1H POLG PIGY CARS2 DDOST CHEK2 COX1 LIPA SQSTM1 AHI1 REST BMPR1A ACTG2 SIX3 ND4 PCNA SDHD SEC23B ZNF423 OPLAH FKRP CHRNA1 CNKSR2 PRKRA FANCB HMBS PTPN22 RAI1 HYOU1 HPGD C1QA ELN SLC25A1 CYP27A1 RPS6KA3 USF3 CAV1 ARV1 BUB3 H19-ICR AP2S1 FUS CCN2 CCR1 MTMR14 MAD2L2 EMC1 TMEM237 MSX1 PSPH FOXP3 CD19 TRNV WASHC5 SLC18A3 KIT HMGA2 CLCN1 AARS1 CEP57 TREX1 WNT4 WIPF1 SLC25A13 PEX12 TERC CHMP1A TGFB1 HTT CDKN2A GJB2 MET F5 BUB1 CTLA4 CDKN2C GPC1 GLMN HNF1B HLA-B BRCA1 SF3B4 FLCN SLC6A3 TNFAIP3 JAK3 PRKCD CDKL5 SUFU ABCD4 NGLY1 SNCAIP ATXN7 IRF2BPL COLQ PIGT L1CAM ARHGEF6 PEX26 GLRB POLR1D TK2 SIN3A CARMIL2 PITX2 WFS1 CISD2 LRRC8A LIMK1 SNCA WNT2B IRF6 SERPING1 TBL2 TWNK PMPCA TGIF1 POLR3B WDR4 CDC45 ENPP1 DGAT1 TWIST1 MEIS2 CPLANE1 STRA6 YY1 FCGR2A FBXL4 AFF4 SCN4A KIAA0586 FKTN SOX2 GREM1 RTEL1 NEUROD2 MMP1 ALG3 TP53 SLC6A8 ARNT2 HIRA ARSA EXOSC9 REV3L CCBE1 APP ELANE SLC35A2 COL18A1 RAD21 GDI1 DGUOK KMT2D ATXN2 POLG EDN3 SEC63 CHD4 PIGO NBN FANCF PLA2G6 DACT1 TP63 PLVAP FAS SIX1 TP53 HLA-DPB1 MATR3 PTRH2 ELN GNA11 RLIM TMEM138 SLC35A2 PANK2 RFXANK IRF5 ITGB4 ALS2 POLR1C KCNJ11 SCN3A DPP9 DNMT3B PIK3CA NLRC4 ASCC1 PTDSS1 IGF2R MPZ HNRNPU BTK TRNL1 EPCAM NDUFA9 FLNA ERGIC1 ATRX PRKCSH F9 PIK3R1 COL3A1 CHST14 ALS2 GRIN2D ECE1 NDUFAF2 GUCY2C KLF6 IQSEC2 SAA1 SPG7 CEP120 ATRX NEXMIF GJB6 ATM TNXB RTEL1 IRX5 GDF2 PMS2 HBB PUS3 PIGV GP1BB SALL4 LETM1 PNP COMP TRIM28 DCTN1 RAD51C CDC73 IL21 MYMK PIGL PIK3CA CEP120 KLHL41 FH HNF4A BCOR SLC30A2 MYD88 ABCA3 JAG1 TMEM70 NPM1 IKZF1 SCN9A PHKA2 DICER1 GNAQ CDH11 NOD2 LRRK2 WNT3 DNAJB6 FLVCR1 ZEB2 B3GALT6 TNXB PABPN1 MLXIPL COL13A1 VAC14 NEB SIK1 GUCY1A1 AP1S1 TRIP4 FGFR2 ECM1 TGFBR2 ALDOB KCNQ1OT1 POGZ TBP ARX PACS1 CAVIN1 PPARG ELP1 BAZ1B FRG1 IL12B TPRKB CHRNG TGFBR2 SCN8A ABCC6 IDH1 CPLX1 BCL10 KRAS HPCA SPP1 CYBB PTEN PMP22 CCND1 NOP10 MSH2 MUC5B GPHN NEXMIF PDP1 JAK2 MMEL1 MBTPS2 SYT2 IGHM MPI EDNRB POGZ RAB39B SYT1 GRIN2D MSX1 SCN3A LBR SPIB NIPBL SYNJ1 CISD2 TET2 PTPRJ MECP2 MPL GTF2IRD1 CREBBP MSR1 GP1BA PRKAR1A MID2 CSPP1 MYOT ATP7A PORCN IDH2 MYO5B ADAMTS3 CXORF56 MLX GATA1 TCTN3 SMAD7 NUP133 MAP2K2 SKIV2L TWNK TTC37 GBA KCNB1 CACNA1A SIX6 SPART TP53 SCN4A DOCK6 RBPJ RNF43 HSD3B7 VPS33A CTRC TRNL1 TGFB1 ANTXR2 STN1 TP53 TINF2 LINGO1 PHOX2B CR2 C11ORF95 PIEZO2 ABCB11 DSE KRT8 ZMPSTE24 LMOD1 GBA TOP3A AGA RPS20 GLIS3 BMPR1A BMPR1A ALDH18A1 CHST14 TRNK TBX1 SLC19A3 PEX11B EPCAM B2M ND1 MAP2K2 GRHL2 ELP1 INS SLC6A5 HBB MEN1 HFE COX2 EYA1 KRT18 MID1 PAX3 HABP2 CORIN CD81 ATXN3 MYH11 LRRK2 TP63 NCF2 H19 SDHD SH2B1 TBC1D23 NBN COG8 ACTG2 EDNRB DCC SPINK5 TJP2 GJB1 HRAS FCSK WDR60 DNM2 LCT CBS SNAI2 ACTG2 LMX1B NDUFB8 COX7B LAMB3 ERBB2 ADCY6 CEP41 FGG MEFV NCAPG2 INPP5E PIGN CDKN1A CCBE1 TMEM216 ACSL4 HMGA2 DCLRE1C AP1S1 SMC3 KANSL1 FGFR1 FREM1 F5 FGA FBN1 SOX5 CENPF UBQLN2 POLG2 SEC24C TSC1 FLNA NUP62 C1R B3GLCT NF1 POMT1 BRCA2 POLG ADAMTS3 PIGN HLA-DRB1 SLCO2A1 FREM1 HCN1 MMP21 APC SDHB LMNA ACVRL1 LMOD3 DIS3L2 PIGA VARS1 COL5A2 RET KIAA0319L FGFR2 CCR6 BMP2 MKKS APC IL1RN MITF LTBP4 FGFR1 TERT PSAP ERCC4 DLEC1 TSPYL1 LRP2 CLMP ARX BRCA2 SZT2 SBDS BRCA1 VPS13A MSH6 HFE TREM2 POLR3A SLC1A4 NPC1 DISP1 PEX5 ERCC4 SLC25A13 FIG4 HPS1 LARGE1 MTTP ELN ITGA6 YWHAG PTEN DCTN4 FBLN5 PEX10 AR RIPK1 DNAJC6 CHRM3 AXIN2 SNAP25 MUSK RAD51 HGSNAT SALL4 NONO KIAA0586 SLC2A10 AFG3L2 RREB1 TWNK ASAH1 REEP1 RPGRIP1L TARDBP FANCC PGM3 SMO EBF3 GYS2 KLLN POMT2 STXBP1 G6PC F11 RAI1 ABCC2 HLA-DRB1 DLL1 EPHX1 WRN SBDS OTC GP1BB EFL1 COX4I2 NOP56 ATP13A2 CYFIP2 CDKN2B DIS3L2 RAD51C ABCC6 NRTN FRMPD4 POLA1 CYBC1 HYLS1 SP110 UBR1 CASP10 C1R PRTN3 MSH2 RECQL4 SALL4 IL2RB RAC2 ITGA6 ATP7B PNLIP PDGFRL CCND1 STUB1 AXIN2 XYLT1 HOXD13 ENG CHAT CD109 IRGM CEL ZNF81 SLCO1B3 SETX NEFH FRAS1 TRNF ACTL6B TRAK1 PTEN SMPD1 MITF SDHC CLTC PRDM16 ATXN10 FLI1 STK11 COLQ ITCH CNTNAP2 FOXG1 SKI DHODH PKHD1 CHAT SYT14 CC2D2A CTCF ADD3 GLI3 ATRX SCO2 BAP1 ND4 SLC29A3 CD3E RELA UCHL1 B4GALNT1 ARFGEF2 SFTPA2 LBR DDC SRP54 SRP54 SMAD3 EPRS1 AKR1D1 KITLG PEX16 WWOX RERE BACH2 UBB MSH3 TYROBP ABCC6 WNT7A BIN1 FANCL PEX14 ATRX WFS1 POLE DDOST PIGW MYCN DDIT3 PMS1 KCNK9 SERPING1 NSD2 MNX1 GABRB2 POU2AF1 F7 SERPING1 CLIP2 QDPR CACNA1A GFPT1 CAVIN1 RFXAP NRXN1 MUTYH ACD MEOX1 NDUFS3 GNAS GNS CHRNA1 ATXN8 ARX NDUFB11 DACT1 MATR3 POLG2 SHH TUBB4A FOXH1 ATP11A SNAI2 CRYAB TNFRSF13C CEP120 ATAD1 TBC1D24 PROKR2 MAP3K7 UBAC2 POLG NOTCH2 USB1 TSC2 TMEM67 EDN3 UBE3B HSD3B7 RMRP PRSS1 KCNQ1 SCN4A COQ2 HLA-B NGLY1 DNAJC13 NTNG1 BCOR NCF1 ROR2 ACD SLC6A8 ERMARD TGFB2 INTU LIFR ATN1 FGA PIGV ITGB2 B9D1 KRAS NFKBIA LRP12 RNASEH1 POLG PLEC APC ITGB4 USP9X PIGN SDHA XIAP PPP3CA SMAD4 COL7A1 GMPPA BRCA2 DLL4 MYPN DSP SDHB NUP214 RMRP SDHC DNAJB6 MGME1 SLC39A4 TRNW CHEK2 RPL11 EMC1 IL2RA SLC37A4 ATXN8OS STUB1 ARID1B KMT2A SAMD9 TRNH ATP1A3 ATXN7 AXIN2 RPS19 GPR35 TBX1 GDF6 ATP6 TFAP2A AP3B2 HCCS PRKCD NEB JAK2 IFNGR1 TBX3 RAPSN FLVCR1 SCARB2 SEMA3C FMR1 AKT1 CCDC47 TBX3 TCIRG1 KAT6A TIMM8A NEFH PTCH1 AP1B1 SERPINA1 FAN1 CDC73 IRF5 FAS FERMT1 CYP7B1 ADAM17 APC CTC1 PLEC NTRK2 VAC14 NPHP3 MDM2 CFTR MYH8 KCND3 XRCC4 SOX3 PLA2G4A BDNF KLF11 ADAR RPS6KA3 IGLL1 CRKL GABBR2 FREM2 VCP POLG ENG PRSS1 TBP NECAP1 PTCH1 SMC1A MACF1 TARDBP MEFV SPG7 DKK1 NCF4 RELA CTHRC1 ATP7A PLA2G6 PEX13 POLR3A CLCA4 JAK3 ABCB4 TNFSF15 CEP104 APPL1 ARHGAP29 PEX6 YARS2 BSCL2 AHCY RAD51D SOX10 SKI IL12A MCOLN1 WT1 FASLG RSPO2 FOXF1 STOX1 PHOX2B BUB1 SOD1 PLAA ENG SDHD CTNNB1 CNTNAP1 HSPA9 ORC1 COG7 THOC6 MYH7 POLR3A VPS13C TRNL1 SLC2A10 KCNA2 GPIHBP1 STS FGFR3 IL12A-AS1 CDH1 WFS1 MYH3 GPC4 SMAD4 RAD50 SUFU MKS1 IL10RB AMER1 GRHL3 HDAC8 RHBDF2 PEX2 BRAF NEB SETBP1 KMT2A ORC6 MASP2 SLC5A7 ASCL1 KRAS ZFYVE26 DCHS1 NEDD4L POLD1 DVL3 STN1 SLC52A3 PTEN SEMA4A UFD1 RARS1 PODXL SMAD4 LRBA FLNB B3GLCT FGFRL1 FGFR2 DNAJC21 ITGA2B FOS EDN3 SERPINH1 DGUOK BRCA2 NFKB2 SNCA NOP10 NDUFB11 JMJD1C FGB PALB2 FAT4 TTC7A ITGA2B C9ORF72 C2CD3 HPRT1 GABRA5 SLC18A3 RAD21 SLC25A22 REEP1 RTTN TK2 CDK4 NCF1 RAD51 EWSR1 AAAS GIGYF2 INHBA FARS2 PEX19 PORCN SEMA3E FGB ZIC3 NEB HYMAI TAF1 NPHP3 IRF6 LBR TNPO3 SLC25A4 CHRNE LRP5 DPYS SYT14 HOXB1 MLH1 SDHC LAMB2 WDR34 SLC52A2 SPECC1L LAMA3 FLCN TRAPPC12 KLHL41 TCF4 GDNF SPG21 STAT4 CTNNB1 STK11 CSPP1 EP300 FGFR2 FGG ASCC1 AMACR GMNN SYP ND2 CDH1 LAMA2 ATXN2 ADAMTS2 GBA FAT4 ZNF41 BLM CDKN2A TNFRSF1A MTM1 SNCA POLD1 ISL1 TPM3 FGFR3 MSH2 TUBB4A NUP88 SLC6A19 ABCC8 PITX2 AGGF1 NALCN PTS SALL4 CDH1 CDKN1B ATXN1 KIT FGFR2 LMNB1 UBTF TECPR2 PPP2R5D MECR TGFB1 PSAP BMPR1A CYBB FANCB STAC3 RNF43 AICDA TERF2IP NDUFS1 SLC6A3 ACTA2 CHRNE HLA-DRB1 ITGA8 MSH6 EIF4G1 WRAP53 PANK2 STXBP1 RFC2 PDGFRA KIT ATP2A2 CEP41 SPINT2 CFTR ZIC3 CCNQ IDS F2 ND6 NOTCH3 TUBB6 FOXC1 INPP5E PIEZO2 EP300 XYLT2 TRNW DLL4 NODAL DOCK8 PFN1 MBTPS2 PHOX2B PRPH ZFPM2 SPINK1 LIPA PAH KLRC4 ALS2 TMEM237 SLC30A10 MYOT POLE NECTIN1 PLAGL1 KCNAB2 PRKN CHD7 BRAF AGPAT2 ENPP1 POLG KIT PPM1D FGFR2 LAMB3 SHANK3 SLC37A4 SLC1A2 MCFD2 CEP290 KIF1A MAPT ALDH18A1 TAF1 SHPK SLCO1B1 DNM1L EP300 SPRTN WNT3 PIBF1 TCTN2 GNAO1 COL14A1 RHBDF2 DAB1 TWNK RETREG1 RYR1 CTNND1 CNTNAP1 HNRNPH2 WT1 NCF2 RAI1 AFF4 LIG4 SURF1 MAPT SELENON TRIP4 GDF3 ITGB3 SHANK3 BBS1 STAG1 ATP1A3 NPHP1 CD79A EFTUD2 CDH1 BRIP1 TWIST2 SLC5A1 IGF2 NIPBL PDGFRA PRKRA BLNK ALG8 PCGF2 MEN1 BRIP1 RNF6 DHCR7 BUB1B RET CNKSR2 POLR3B ACTA1 DYSF AFG3L2 SLC10A2 GCK NOTCH1 KCNK9 NCF4 SMAD4 STAT1 TTC37 TAF1 IL12RB1 CAMK2B C4A TNFRSF13B NR4A2 EDNRB POT1 INPP5E MINPP1 PTPN22 TRNK ATP7A CIITA CLCN4 MAGEL2 STX1A EHMT1 BARD1 IGF2 LIPA MYO9A EEF1A2 FLII TMEM237 PKD1 NOP56 SKIV2L PRNP SFTPA1 CXCR4 SAR1B RTEL1 POLG SLC46A1 CACNA1B DLG3 CD55 TPM3 GBE1 CCDC28B TJP2 TLR4 PLP1 PIK3CA NPC2 FANCB COG4 SDHB CCND1 IL10 ITGB3 EDNRB NALCN NOTCH3 SAR1B F5 PTEN GEMIN4 CASP10 EXTL3 MCEE MAPT STAT4 NPHS1 PLEC ARVCF FTSJ1 RAD51 GBA COX3 ZAP70 AAAS PDGFRB PLAA NUP62 CCNQ PHOX2B TYMP COL5A1 PTF1A IARS2 SEC23A COG6 PIK3CA SLC7A7 CYBA LAMC2 HFE RFX5 MS4A1 PUF60 DHDDS DMPK AIRE TRNS2 HRAS HDAC4 FANCG WDR35 KLHL7 AXIN1 EDNRB FLCN BLK NRAS SLC9A6 RRM2B IFT80 AAGAB GABRG2 ATXN8OS FAH BMP4 ITGA2B CDH11 NEUROD1 PINK1 MLH1 FANCB PSTPIP1 SLC13A5 KLHL41 GP1BB KAT6B MYRF SLC52A3 STX3 DCHS1 TTC7A ECE1 HCCS MECP2 APC PRSS2 PLOD1 SALL1 KAT6B GP1BA PANK2 LAMA3 FAS PDE8B SALL1 TP53RK TBCD FREM1 CDON MECP2 GP1BA CHCHD10 CD96 KCNC3 SNAI2 MED12 VANGL1 CDKN2A

Protein Mutations 2

C10D V30M

SNP 1

rs738409

HP:0001392: Abnormality of the liver

Genes 1390

SRD5A3 WHCR CSPP1 ATP7A IL2RG MYORG NR1H4 IL17RC PEX1 B9D1 CD40LG TCF4 INSR SKIV2L RRM2B TTC37 HPD PEX11B NEU1 DOCK6 RBPJ CLEC7A RNF43 PSAP HNF1B HSD3B7 VPS33A LIPT1 EFL1 SDHC CEP290 TGFB1 CHD7 TINF2 FOXP3 PRKCD ALG6 CR2 C11ORF95 PTPN3 LACC1 ABCB11 KRT8 PLEKHM1 SETBP1 CASK PEX10 PKLR HADHA GBA TINF2 SLC4A1 AGA HADHA RPS20 IL7R TCIRG1 FLI1 GLIS3 CFI UQCRC2 IL17RA DNASE1L3 TRNK MRPL3 LCAT MPV17 TBX1 PEX11B TMEM70 KLF1 INS HBB NDUFS1 KMT2E HFE FASTKD2 ALG9 CTRC KRT18 SOS1 EIF2AK3 WDR35 PYGL FASLG CORIN BSCL2 ALG8 CD81 TNFSF12 RHAG FAN1 NCF2 LMNB2 ACADM H19 FBP1 GNE TNFRSF1B ND3 RMRP XRCC2 PC SLC29A3 ACOX1 COG8 RHAG SLC30A10 CDKN2B TJP2 COX6B1 SMPD1 SPTB WDR60 CBS RPGRIP1 SRD5A3 RPGRIP1L MLH1 ATP8B1 TRIM37 TMEM67 NHP2 SLC11A2 INPP5E NFKB1 CDKN1A HADHA CA2 ACSF3 H19 POLD1 AP1S1 F5 LYRM4 SLC2A1 KRT6B PCK1 POLG2 SEC24C HNRNPA1 DHDDS ALG13 AKT2 APOA1 B3GLCT GBA MPC1 KRT16 TET2 LDLRAP1 SLCO2A1 ACVRL1 KCNH1 PIGS APC TMEM67 USP9X CAV1 IFT122 TNFSF11 LRPPRC POMC BBIP1 B9D2 PEPD ACAT1 LMNA SPTA1 ACVRL1 GATA6 LPL DIS3L2 GNPTAB PHKG2 TNFRSF1A IDUA KRIT1 SLC25A13 BMP2 GPI SNX10 AKR1D1 BBS1 MED25 APC MAN2B1 MTRR ALAS2 ERCC4 PEX14 PNPLA2 PIEZO1 MVK PEX16 BRCA2 BCS1L SBDS TUFM VPS13A IFT140 SDCCAG8 GBA AMACR PFKM HFE PTPN11 APC INSR NPC1 CTNS TSFM PEX5 IFT172 BRCA1 IFT80 ERCC4 SLC25A13 RFWD3 PSMB4 HBA2 WDR19 ALDOA ELN ATP8B1 JAK2 MPI SMPD1 HMBS TBX1 ABCA1 ICOS UROD DCTN4 DKC1 LIG4 NBAS PEX3 TRNE ACADVL SDHA GPC3 TREX1 PEX10 CAV1 MYC HADHB HGSNAT GBA MMUT PEX26 RAB27A PEX12 PMM2 RREB1 RPGRIP1L CLDN1 MPL UQCRB MRPS16 UGT1A1 WDPCP FANCC HJV PEX13 CARS2 AP1B1 GYS2 PROP1 MRPS7 PEX2 PEPD G6PC MCM4 MMUT COG4 ABCC2 PEX26 HLA-DRB1 PPARG NDUFS7 NPHP1 VIPAS39 ABHD5 SBDS PIGA APOA1 GP1BB EFL1 VCP SLC17A5 COX4I2 GPD1 GPC3 CA2 DDRGK1 NDUFAF1 COG5 PHKA2 TWNK PHKG2 KRAS CYBC1 USP18 TMEM231 SP110 PEX1 CIDEC EOGT MSH2 IL2RB SLC39A8 MEFV TANGO2 FERMT3 ATP7B PDGFRL ATM TTC21B TERT HMGCS2 HOXD13 ENG MYH9 CEL LONP1 FGA SLCO1B3 CYP27A1 MIF DPAGT1 TERT TF CLCN7 TMEM107 CD247 NDUFA6 TRAF3IP2 DNAJC19 APOB SMPD1 CEP290 PRDM16 STK11 ND2 LETM1 ITCH LPIN2 PEX6 CASR SLCO1B1 POLG TPP2 IFT172 ZAP70 CNTNAP2 SKI H19 CYP19A1 ABCG8 PKHD1 CC2D2A CTCF GCGR CD96 PIK3CA GAA PSAP LHX1 PEX2 UBE2T PSAP ND4 PEX6 SLC29A3 TACO1 RNASEH2B POLG2 ZMPSTE24 RELA TMEM67 PCK2 POMC CD79B LBR SRP54 AKR1D1 SLC39A4 SC5D RPGRIP1L PLPBP SPTA1 RERE NKX2-5 NDUFS4 FAH CC2D2A COX20 GATA6 TERT TRAPPC11 ARSA HBA1 FANCL RFX5 PEX14 HNF1A FUCA1 OCLN DCDC2 TPI1 GUCY2D PSAP NSD2 PIK3C2A STAT6 CEP19 TERC SF3B1 NDUFS6 COG6 ACADL HADH RRAS POU2AF1 NOD2 CLIP2 NDUFV1 ERCC8 PEX5 HBB NPHP3 CAVIN1 PSMB9 RFXAP TCF3 NRXN1 FECH CP GFM1 GYPC CTSC SLCO1B3 CD28 NOTCH2 GNS HAMP CDAN1 CEP120 C1QBP ADAR CEP290 POLG2 HBG2 TIMMDC1 PARN EIF2AK3 RHAG ALDOB TNFRSF13C IL21R TRMT10C RFXANK BMPR1A STX11 CD27 CASP8 DHCR7 SGSH SLC25A19 HNF1A CSPP1 BBS12 RFT1 NLRP3 USB1 TRIP13 TMEM67 IDUA PMS1 CPT2 SLC25A20 RFXAP ADA HSD3B7 RAG2 WDR35 RMRP PCSK1 PRSS1 KCNQ1 FDX2 NDUFS8 CEP290 ND1 CCDC115 NGLY1 LMNA WDR60 FANCA MSH6 TMPRSS6 POU6F2 IL2RG NCF1 NSD2 STEAP3 INTU ADAMTSL2 SON PIK3CA FANCM LDLR KCNJ11 CLDN1 DLD TNFSF11 ABCA1 PIEZO1 ARHGAP31 RBM8A SLC13A5 NOTCH2 PEX6 EPCAM MEN1 KRAS TRIM32 PEX14 DUOX2 PDGFRB HBB UBR1 PEX13 RAG1 ABCC2 CIDEC TBX19 SDHA APC ARL6 XIAP RASGRP1 TCIRG1 SMAD4 NHLRC2 ALG1 BRCA2 POU1F1 ND5 DLL4 NDUFB11 TNFRSF11A HLA-B GTF2I EPB42 CTRC SLC22A5 PEX1 IL2RA RNU4ATAC SLC37A4 BCS1L BCHE KCNJ11 LMNA TFR2 TREX1 GUSB BTNL2 TRAF3IP1 SLX4 TNFRSF13B CYBA UGT1A1 DNAJB11 KCNN3 DKC1 PEX3 VPS45 APOE SCO1 GPR35 TBX1 CR2 ATP6 PRKCD JAK2 CTNNB1 HESX1 NPHP1 LMNA APOE FANCI LYST TET2 PEX13 TP53 NUBPL TRAF3IP1 CCDC47 PDX1 TANGO2 TTC8 LYST AP1B1 RNASEH2A MUC5B IL17F SERPINA1 PEX6 FAN1 PKLR NPHP3 C1S NPHP4 FBN1 UGT1A1 KRT18 CYP7B1 CIITA GPC3 HADH HJV KPTN XYLT1 PEX16 CYP7B1 APC UGT1A1 CPT1A BBS5 PALLD CTC1 NSMCE2 FADD TTC7A BCS1L FARSB DDRGK1 NPHP3 IFNGR1 CFTR PEX16 XRCC4 FGFR2 HNF4A MPV17 GALT SLC25A1 ACADM ALG9 KLF11 MLH3 CLCN7 IGLL1 UGT1A1 CLPB GBA TALDO1 KRT8 BTD ARSA PLAGL1 HK1 ALG2 DPM2 C8ORF37 DMD SLC40A1 SLC26A4 G6PD GALK1 AGPAT2 PEX5 PDGFRA SLC40A1 IL2RG IYD KLF1 WT1 BBS10 ATP7A RNASEH2C SRP54 ABCC8 PEX13 DYNC2H1 SLC20A2 ESCO2 GPC4 PAX8 CLCA4 C4B PCCB COG8 ABCB4 XK TNFSF15 APPL1 HEXB CPT2 PEX6 XPR1 CTSA IER3IP1 ACOX1 B2M TNFRSF1B YARS2 DCLRE1C HYMAI SCARB2 CD70 BSCL2 AHCY LYZ SPINK1 SOX10 IDUA ABCC8 GABRD WT1 FASLG ERCC6 FOXF1 STOX1 TBX19 CTBP1 DPM1 ATP8B1 PEX12 BSCL2 ENG UCP2 PKD2 RNU4ATAC FGFR2 SCYL1 COG7 DAXX MST1 PSMB8 BLVRA GPIHBP1 HADHA NELFA SURF1 TNFSF12 GPC4 SMAD4 PEX19 GNAS TRMU COX10 ALAS2 NAGA DOLK PEX2 NHP2 MCCC1 TRIM28 DHFR DNAJC21 CTSK SETBP1 PEX3 WDR19 NAB2 DPM3 RECQL4 MVK RFT1 LZTR1 G6PC3 ANK1 CDKN1C STN1 KRAS PALB2 SEMA4A EPB42 UFD1 NHP2 LIPE RIT1 RNASEH2A DCDC2 FGFRL1 HNRNPA2B1 STEAP3 PARS2 DNAJC21 LHX3 TG DCLRE1C HMGCL DIS3L2 FOS VPS33B TMEM199 BRCA2 RBCK1 HELLPAR NFKB2 CASR LMNA NOP10 SFTPA2 XRCC4 PAX4 JMJD1C RAF1 CD46 PALB2 RAG2 DGUOK COX8A ND3 CFTR FANCE ICOS RMND1 RFX6 NDUFS7 IL12A LIG4 KIF23 SCYL1 NDUFS2 HLA-DRB1 FAS NCF1 ARSB MKS1 SLC25A20 RAD51 EWSR1 ALMS1 GALE PEX26 TSC1 MMAA SLC4A1 KRT17 PAX8 ABCA1 PEX19 ZIC3 ADA2 EPB41 SERPINA1 CFTR NPHP3 MOGS FBP1 FANCD2 LBR TNPO3 SLC25A4 ATP11C LRP5 TSHR NEK1 CCND1 MET VHL ABCG8 IDUA TRMU WDR34 ABCB4 SPECC1L ERCC4 DYNC2H1 MKS1 GLB1 ASAH1 ATP6V1B2 SLC25A13 NEUROG3 ND1 TCIRG1 HSD17B4 CDKN1B LRP5 STK11 IL1RN COG1 NRAS ND6 GBA BTK AMACR ETFA ND2 PPARG FLT1 COMT DGUOK CD19 PRPS1 GBA HADHB POU1F1 DLD MKKS SEC63 TRMT5 TGFBR2 GBA HMGCL SLC4A1 HBB TRNS1 MRPL44 DDOST PCCA ABCB4 LIPA ABCD3 LIPE GATA2 BTK REST SUMF1 FUCA1 PEX3 AGGF1 PEX14 RAG1 UROS ANKS6 KCNN4 SDHD PTEN TREX1 TSHB APOC2 SLC2A1 GLB1 CDKN1B CPA1 ASL HMBS IL36RN KIT INPPL1 HYOU1 TRIM37 HPGD ELN PEX19 TGFB1 CBS CYP27A1 RAG2 TGFB1 PSAP MMUT COX10 COX15 KCNN4 CYBB HMOX1 H19-ICR NDUFA11 PLIN1 DYNC2LI1 NDUFAF2 TERC MAD2L2 NDUFB9 MSH6 KRAS CD3E FOXRED1 CD19 HBG2 TRNV PCCA HNF1A KIT WRAP53 GCLC C8ORF37 COX14 ACAD9 GNMT TREX1 ATP6AP1 RFC2 HNF4A CD3D SLC25A13 PEX12 TMEM67 TERC CTLA4 TRNN CDKN2A LMNA BCS1L IDS MET IL7R CDKN2C TSHR PLIN1 PET100 GPC1 CPT1A HNF1B NLRC4 BRCA1 PEX3 DPM3 JAM3 GNPTAB TRNW DLL4 JAK3 IFT140 MICOS13 DNAJC19 PNPLA2 PRF1 NAGA CEP55 SC5D PIGM PMM2 GALT BBS7 HLA-DRB1 ITK PRKCD NDUFAF4 BBS2 LIPA NGLY1 IDUA HAVCR2 IQCB1 MFN2 NOS3 SUMF1 BBS9 NDUFAF1 MYBPC3 SLC30A10 PEX26 PEX10 EPB41 KCNAB2 ACADVL GUSB CPT2 AGPAT2 HBB POLG ETFDH NRAS PEX16 GLRX5 LRRC8A COA8 OSTM1 LIMK1 NLRP3 TBL2 LZTFL1 FH CPOX CEP164 PNPLA6 SLC37A4 SPTB ABCB11 TWNK SFTPC ALDH7A1 INPP5E HBA1 ATPAF2 SHPK ICOS SLCO1B1 FCGR2A SPRTN FBXL4 MARS1 ALG11 TMEM67 KIAA0586 CPT2 IL7R NDUFS3 RASA2 ACAD9 AUH TKT ATP7B NSMCE2 RHBDF2 OFD1 CLCN7 IFIH1 JAK2 WT1 DZIP1L HIRA DPM2 PRKCSH GNE NCF2 SLC25A19 ARSA TFAM COX15 COG2 CEP83 SNX14 KCNH1 NEK8 BBS1 NDUFAF3 PSAP CD79A BRIP1 SEC63 ADAMTS13 ANTXR1 IGF2 FANCF PDGFRA BLNK ALG8 WDR19 PEX10 TMEM126B TPO TALDO1 FAS PDGFB CLCN7 DHCR7 BMPER IFT172 PCCB TP53 CTLA4 SDCCAG8 GCK NOTCH1 PTRH2 ADA NCF4 SLC35A2 SMAD4 STAT1 TTC37 GDF2 TMEM165 IL12RB1 RFXANK IRF5 NDUFAF5 TNFRSF13B PEX12 TRAPPC11 INVS CALR TRHR SPINK1 CD28 MECP2 SEC23B AGL ABCG8 CIITA WDR19 HBG1 GALNS OFD1 TMEM216 CC2D2A ABHD5 PEX2 LARS1 TTC21B GCDH RPGRIP1L STX1A IGF2R IGF2 BTK LIPA TRNL1 MKS1 COG2 SLC25A15 PKD1 CC2D2A TNFRSF13C SLC4A1 SP110 CASP10 ATRX PKHD1 PRKCSH HNF1B SKIV2L SOS2 KRT6A PIK3R1 TARS2 RRAS2 RTEL1 POLG TCTN2 CD55 GBE1 CCDC28B PRKAR1A SLC7A7 CYTB IFT27 NPC2 BSCL2 NDUFB10 COG4 SDHB SAA1 AP3D1 ITCH SLC5A5 PRSS1 SAR1B PEX11B RAG1 GDF2 ALMS1 F5 PMS2 COA8 GBA HBB TSC2 CASP10 CASR EXTL3 LETM1 NDUFS4 HAMP DYNC2LI1 TRIM28 PHKB PSMB8 RAD51C AKT2 ARVCF SH2D1A DUOXA2 ZAP70 LHX4 C15ORF41 RNU4ATAC POLR3A HNF4A AGA RNASEH2C TYMP IFT172 MYD88 JAG1 APOE LTBP3 ASAH1 NPM1 COG6 IKZF1 PHKA2 SLC7A7 CYBA HFE GLB1 NLRP1 CBL RFX5 MS4A1 HNF4A BBS4 ARSA NAGLU BTNL2 FAM111B PLEKHM1 DMPK AIRE BPGM MLXIPL FANCG EARS2 WDR35 SAMHD1 PGM1 AP1S1 AXIN1 LMNA ALDOB ADK PRSS2 KCNQ1OT1 HBA2 CAVIN1 BLK SNX10 PPARG RRM2B CYP7A1 IFT80 BAZ1B CTLA4 FAH SLC25A15 NEUROD1 PEX1 NDUFV2 PEX5 SLC22A5 MLH1 FANCB WDR34 CPLX1 IARS1 WDPCP EXTL3 TMEM216 TERT BOLA3 XIAP MYRF CTNNB1 CYBB SPTB GANAB NPHP3 NAGS CYC1 TTC7A NOP10 MSH2 APC UNC13D TRNW JAK2 MMEL1 MMAB IGHM MPI IFT43 MRAS NDUFB3 PCSK9 FAS STXBP2 ANK1 CFH PTPRC LBR SPIB VPS33A IL6 TET2 ASS1 NDUFA1 FECH ABCG5 MPL GTF2IRD1 PEX12 AP3B1 IFIH1 ETFB PEX19 PEX1 PRKAR1A ERBB3 A2ML1

Protein Mutations 5

C282Y G20210A H63D I148M V617F

SNP 8

rs12979860 rs2281135 rs2294918 rs58542926 rs641738 rs73049 rs738409 rs8099917

HP:0001410: Decreased liver function

Genes 226

MEFV MICOS13 PEX13 PORCN SC5D GALT NR1H4 TNFSF15 SMPD1 LIPA TCF4 PEX6 ITCH POLG IFT172 ALG1 BSCL2 PEX26 NDUFAF3 PEX10 HSD3B7 LIPT1 CPT2 AGPAT2 CC2D2A COA8 OSTM1 RNU12 SCO2 TINF2 PEX12 ENG FH ND4 TACO1 SCYL1 COG7 POLG2 DAXX MST1 GBA BLVRA PCK2 AKR1D1 PEX16 UQCRC2 TRMU COX10 MARS1 TRNK PEX2 FAH ACAD9 COX20 PEX11B PEX14 ATP7B OCLN DDOST PEX2 HBB FASTKD2 TFAM SURF1 EIF2AK3 CEP164 NHP2 HADH EPM2A POU2AF1 ACADM PARS2 ND3 ALG8 FOS FECH TMEM199 GFM1 CACNA1S SLC30A10 TJP2 COX6B1 NDUFB8 DGUOK COX8A SMAD4 PARN TTC37 IL12RB1 IRF5 ALDOB IL21R TRMT10C INPP5E RMND1 PTPN22 IL12A HADHA SCYL1 HLA-DRB1 NHLRC1 F13B USB1 TMEM67 SLC25A20 ALMS1 CPT2 F5 LARS1 PCK1 COQ2 PEX19 CCDC115 LIPA SERPINA1 TRNL1 COG2 SLC25A15 TNPO3 ATRX RTEL1 DLD PEX10 GBE1 IFT122 PEX6 COG4 ND1 ACVRL1 UBR1 ND6 AKR1D1 GDF2 COA8 ND2 NDUFS4 ND5 DLD MOGS HLA-B SH2D1A VPS13A LARS2 AMACR EPM2A NPC1 PEX5 BCS1L TRNS1 FADD MTM1 JAG1 NDUFS2 BTNL2 ALG8 ABCD3 NPM1 IKZF1 PHKA2 SLC7A7 JAK2 MPI SCO1 DKC1 NBAS GPR35 PEX3 ATP6 PEX26 PEX10 CAV1 HADHB STT3B PEX19 ALG6 CCDC47 ADK RYR1 CAVIN1 RPGRIP1L PPARG FAH PEX13 SLC25A15 MRPS7 CYP7B1 HADH IARS1 PEX16 CYP7B1 COG4 XIAP TRNV ALG9 GANAB F13A1 CTC1 WRAP53 OTC COX14 CYC1 ACAD9 FADD NOP10 FARSB MMEL1 TERC TRNN PHKG2 MPI MPV17 GALT USP18 SP110 PEX1 SPIB TRNT TALDO1 ATP7B PET100 GPC1 NHLRC1 CPT1A FECH TRNW TERT

Protein Mutations 0

SNP 0

HP:0002910: Elevated hepatic transaminase

Genes 272

SRD5A3 CSPP1 RNASEH2C SRP54 MICOS13 PNPLA2 DNAJC19 PMM2 COG8 NR1H4 ABCB4 PRKCD NGLY1 CPT2 TCF4 IER3IP1 YARS2 RRM2B NOS3 POLG CNTNAP2 SLC30A10 BSCL2 AHCY SPINK1 HNF1B HSD3B7 LIPT1 AGPAT2 STOX1 CC2D2A POLG GLRX5 DPM1 LHX1 FOXP3 ALG6 CR2 RNASEH2B COG7 SLC37A4 POLG2 DAXX MST1 TWNK PSMB8 TMEM67 HADHA TNFSF12 CFI AKR1D1 SC5D UQCRC2 GNAS FBXL4 TRMU ALAS2 MARS1 ALG11 KIAA0586 DOLK CPT2 MRPL3 FAH MPV17 ACAD9 TRAPPC11 ATP7B NSMCE2 OCLN OFD1 IFIH1 DPM3 DPM2 CTRC TFAM COG2 EIF2AK3 KRAS PALB2 PYGL CORIN BSCL2 CD81 TNFSF12 RNASEH2A DCDC2 FAN1 ACADM CAVIN1 FBP1 DNAJC21 GNE PSMB9 FOS NRXN1 VPS33B TMEM199 RBCK1 ACOX1 HELLPAR NFKB2 COG8 SLC30A10 HAMP CBS CD46 C1QBP DGUOK SRD5A3 RPGRIP1L ADAR POLG2 SLC35A2 ATP8B1 GDF2 TMEM165 TNFRSF13C TRMT10C TNFRSF13B ICOS INPP5E TRAPPC11 NFKB1 KIF23 ACSF3 AGL POLD1 TMEM67 SLC25A20 CPT2 SLC25A20 ABHD5 HSD3B7 F5 LARS1 WDR35 PRSS1 POLG2 DHDDS CCDC115 NGLY1 ADA2 SLC25A15 LBR CC2D2A SLC25A4 STEAP3 ATRX HNF1B POLG DLD ABCB4 ERCC4 COG4 HSD17B4 PHKG2 SAR1B RAG1 SLC25A13 BMP2 AKR1D1 ALMS1 HBB SMAD4 FLT1 ALAS2 HADHB HAMP PNPLA2 MVK DLD PEX16 BRCA2 HLA-B VPS13A SLC22A5 AMACR HMGCL BCS1L IFT172 HNF4A RNASEH2C TYMP MRPL44 SLC25A13 TFR2 JAG1 DDOST TREX1 ABCB4 PSMB4 ABCD3 COG6 IKZF1 PHKA2 SLC7A7 HFE JAK2 MS4A1 NBAS GPR35 ACADVL SDHD TREX1 ASL CAV1 SAMHD1 TP53 PGM1 PEX19 RAG2 PMM2 ALDOB TANGO2 ADK CAVIN1 RPGRIP1L MRPS16 PPARG RNASEH2A RRM2B SERPINA1 PEX13 GYS2 SLC22A5 CYP7B1 HADH IARS1 HJV CYP7B1 CPT1A G6PC PALLD COG4 CD19 VIPAS39 HNF1A SBDS C8ORF37 CYC1 ACAD9 GNMT GPD1 FARSB TREX1 ATP6AP1 HNF4A SLC25A13 COG5 PHKA2 TWNK PHKG2 CDKN2A MPV17 USP18 ACADM SP110 CFH CLPB TANGO2 GPC1 CPT1A ATM HNF1B DPM2 BRCA1 MYH9 DMD DPM3 AGPAT2 DPAGT1

Protein Mutations 0

SNP 0