Utilizing Non-Invasive Fibroscan® Technology to Identify Genetic Markers for Fatty Liver Progression

Non-alcoholic fatty liver disease (NAFLD) is a common disorder, affecting ~30% of people in the general population and up to 96% of obese individuals. Variations in several genes have been found to be associated with fatty liver, but these associations only explain a small percentage of the risk, and further studies are needed. In many cases NAFLD does not cause serious side effects, but in some individuals it progresses to scarring or hardening of the liver, liver failure, and cancer. The purpose of this research study is to determine if individuals who carry certain genetic variations in a gene related to bile and choline metabolism have an increased risk of fatty liver progressing to fibrosis, or scarring of the liver. This study will also use a new, non-invasive method called the FibroScan® to measure liver fat and liver stiffness. The FibroScan® device is FDA approved for use to measure liver stiffness, but not for the liver fat measurement. However, the FibroScan® instrument is considered a non-significant risk device. Since its induction in Europe and worldwide in 2003, there have been no adverse effects reported with this device.

NCT02267148 Non-alcoholic Fatty Liver Disease

MeSH:Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease

HPO:Abnormality of the liver Decreased liver function Elevated hepatic transaminase Hepatic steatosis

Time Perspective: Cross-Sectional

Case Control

There are 2 SNPs

SNPs

1 rs2281135

As additional proof of principle that the measurements we are making correlate with genetics, the investigators will also measure two genetic variants that have been shown in many studies to correlate with liver fat and fibrosis by their research team and others: PNPLA3 rs738409 and rs2281135.

2 rs738409

As additional proof of principle that the measurements we are making correlate with genetics, the investigators will also measure two genetic variants that have been shown in many studies to correlate with liver fat and fibrosis by their research team and others: PNPLA3 rs738409 and rs2281135.

HPO Nodes

HPO:

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

HP:0001397: Hepatic steatosis

Genes 137

SLC40A1 LDLR TARS2 ABCG8 DNAJC19 PNPLA2 DNAJC19 APOB PMM2 CAV1 LRPPRC PRDM16 CPT2 LMNA HSD17B4 POLG NDUFAF1 SKI BSCL2 CYP19A1 SAR1B SLC25A13 CIDEC KCNAB2 ACADVL GABRD ALMS1 COA8 AGPAT2 POLG ETFDH ETFA PPARG BSCL2 PNPLA2 AKT2 BCS1L ZMPSTE24 POLR3A PCK2 BCS1L HNF4A TYMP MRPL44 LMNA SLC25A13 DDOST RERE TRMU MARS1 LIPA COG6 CPT2 PHKA2 MPV17 ACAD9 MCCC1 LIPE TRAPPC11 APOE ATP7B NSMCE2 HFE TFAM COX15 CAV1 CEP19 LMNA HADHB EARS2 PGM1 CBS ACADL HADH BSCL2 LIPE ALDOB ADK LMNB2 ACADM HNRNPA2B1 CAVIN1 PPARG RRM2B CYP7A1 CAVIN1 FBP1 PLIN1 FOS TMEM199 CARS2 ACOX1 SLC22A5 LMNA MRPS7 HADH IARS1 XRCC4 CPT1A PPARG DGUOK PTRH2 ABHD5 NSMCE2 ACAD9 VCP GPD1 FARSB ATP6AP1 SLC25A13 TRAPPC11 RMND1 HADHA PHKG2 MPV17 LMNA POLD1 ACADM PCSK9 ALMS1 CIDEC ABHD5 LARS1 VPS33A CLPB LYRM4 PCK1 PLIN1 HNRNPA1 NGLY1 LMNA HNF1B ABCG5 SLC40A1 ETFB AGPAT2 LDLRAP1

Protein Mutations 4

C282Y E167K H63D I148M

SNP 10

rs1260326 rs2281135 rs2293152 rs2294918 rs2854116 rs2854117 rs58542926 rs641738 rs73049 rs738409