HP:0001397: Hepatic steatosis

Genes 141

ETFB BSCL2 ADK SLC25A13 ALMS1 SLC25A13 PGM1 CAV1 IARS1 LRPPRC TRAPPC11 PPARG CAVIN1 AGPAT2 DDOST PLIN1 ALDOB GABRD LMNA CAVIN1 ATP6AP2 LMNA ABCG5 CYP7A1 PMM2 NGLY1 PNPLA2 CIDEC RRM2B LIPE GPD1 LYRM4 POLG HNF1B TMEM199 ACADVL CPT1A TKFC LIPA DGUOK LMNB2 CPT2 ACADM PPARG CLPB ETFDH DNAJC19 APOB MPV17 SCO1 BSCL2 TRAPPC11 PNPLA2 PHKA2 HNRNPA2B1 SLC40A1 POLD1 NSMCE2 ACAD9 MCCC1 LARS1 PLIN1 CAV1 NDUFAF1 HSD17B4 SLC22A5 MPV17 FARSB POLG LDLRAP1 HADH FARSA BCS1L MRPS7 HNRNPA1 AKT2 CPT2 LMNA SLC25A13 CIDEC ALMS1 TRMU VCP LIPE FOS ACADM CYP19A1 PTRH2 POLR3A AGPAT2 DNAJC19 TARS2 NSMCE2 HNF4A PCK1 LDLR CARS2 FBP1 ATP7B CPT2 PRDM16 SLC40A1 MARS1 MRPL44 PCK2 ABHD5 BCS1L CBS APOE PPARG IARS1 BSCL2 TYMP EARS2 ATP6AP1 COX15 ABHD5 HADHA PHKG2 LMNA HADH RMND1 ACAD9 CPT2 ABCG8 TFAM COA8 ETFA RERE ACOX1 HADHB MTTP PCSK9 KCNAB2 CEP19 XRCC4 SKI VPS33A SAR1B LMNA RINT1

Protein Mutations 4

C282Y E167K H63D I148M

SNP 10

rs1260326 rs2281135 rs2293152 rs2294918 rs2854116 rs2854117 rs58542926 rs641738 rs73049 rs738409

HP:0001392: Abnormality of the liver

Genes 1400

TNFSF11 UBR1 TRNK B3GLCT PEX3 NDUFS4 SCYL1 TREX1 CASP8 IARS1 SLC25A13 TRAPPC11 ABCC2 ALG9 GTF2IRD1 CAVIN1 EPB41 CD247 RASA2 APC NHLRC2 PEX3 TSHR NGLY1 ARVCF FANCM UCP2 ND1 ANTXR1 SDHD NELFA RREB1 NLRP3 HPGD CD70 LETM1 KIF3B IFT172 NPHP3 ARSA ASS1 TCF4 WDR35 SHPK RFX6 PSAP PEX11B PEX6 ERCC4 PAX4 SETBP1 HBB APOB RIT1 CEP164 ZAP70 ZIC3 STK11 STN1 GPC1 CYP27A1 GNPTAB DYNC2H1 PEX11B PDGFRL PEX1 PKLR GALK1 AP1S1 TTC7A BRIP1 TREX1 HSD3B7 PLIN1 FDX2 CD81 TNFRSF13B SEC24C POLG2 UROS KLF11 IL36RN PIK3CA CLDN1 SLC37A4 PIGA CD96 CYBA ERCC8 AKT2 FANCG FOXF1 TET2 NDUFV2 GLIS3 DLD PEX2 GNS AKT2 SLC25A20 RRAS2 CASP10 TNPO3 XRCC4 PC NEUROD1 WDR19 NOD2 CEP290 PTRH2 CCDC115 C8ORF37 CPOX SLC13A5 NSMCE2 HAMP VPS45 FBP1 SPTB PRKCD SPECC1L CBS DNAJB11 COG8 HOXD13 RNU4ATAC KMT2E PKD2 TTC21B PKD2 PDX1 NPHP1 AKR1D1 IFT27 CBL PHKG2 PEX19 USB1 NLRP3 SPTB TMEM70 PEX26 CR2 PEX12 SEC63 SPOP ACVRL1 FAH STX11 HNF4A SDHA NEK1 MADD ERCC8 PDGFB FANCL CPLX1 FAS ALDOB PSAP TCIRG1 CALR PEX16 ACADVL RINT1 FAN1 TET2 TKT RFX5 SLC2A1 VPS33A HMGCL MYRF RFT1 SLC4A1 XK NGLY1 DLL4 PCSK1 MSH2 C11ORF95 MVK MCM4 FLI1 AGPAT2 TINF2 ARSA IYD CFTR CR2 CASK ESCO2 LRP5 AGA TRIM37 MET NLRP3 SMPD1 KRT18 FANCF IGF2R NCKAP1L WDPCP GATA6 BBS9 LACC1 ACADVL APPL1 IFT80 CPT1A PEX1 IGF2 KIF20A STAT1 DLL4 PLEKHM1 RMRP KRAS IFT140 UQCRFS1 PEX12 HNF1A PRKCSH TRNN SCO1 BTK SLC25A15 MSH6 PEX13 ERCC8 BSCL2 SLC39A4 NDUFB11 RBCK1 HNRNPA2B1 PALLD RNASEH2B UGT1A1 NDUFAF8 SLC44A1 PSMB9 CCND1 AHCY ATPAF2 SMAD4 SKIV2L SNX10 HMBS TERT ALG8 ABCC8 SC5D TMEM216 NPC1 POMC FANCI FAS SLC22A5 SCARB2 HBB HFE LDLRAP1 HADH MMAA MYBPC3 PEX6 MET NOTCH2 PEX10 CTLA4 RPGRIP1L TRIM28 NPC2 SCYL1 ALMS1 CP VCP TUFM IDUA SBDS COG6 RFXAP GPC3 B9D1 TRHR DHDDS TTC7A PEX14 CYP19A1 INTU SLCO1B3 PTEN NLRP1 TIMMDC1 BBS7 DUOX2 HNF4A COG5 LDLR MMEL1 DNASE1L3 RASGRP1 FANCA DLD COG4 MARS1 PCK2 SOS1 KRT18 IARS1 ENG SCNN1B TYMP HNF1A DHFR GPI LPIN2 TGFB1 MAN2B1 KCNQ1OT1 TTC21B NPM1 NDUFS4 SLC2A1 HNF1A TSHB IL18BP ANK1 CTLA4 MMUT PCSK9 CEP19 KLF1 POLG2 IL21R APC IRF5 IL17RC SAR1B TERT PIGM PEX1 ERBB3 LYZ DYNC2H1 ATAD3A DNAJC21 CTNNB1 MPI PEX14 CFTR PSAP IFT80 RHBDF2 PPARG RTL1 TGFB1 MKS1 DDOST HBA2 TRNE TSFM NDUFB9 NPHP3 EWSR1 GCGR POU6F2 PLPBP PMM2 IDUA SFTPA2 IRAK4 APC HBG2 SLC29A3 RAG2 PEX10 JAK1 GBA MMUT JMJD1C SLC30A10 CPT2 NDUFS6 PALB2 GALT OCLN ETFDH TBX1 WDR19 FLNC NCF4 FASLG COX4I2 IFT172 RFXANK PEX12 PIEZO1 EPB41 BCS1L GBA CORIN ENG SPTA1 PTPN3 PHKB AGA RAG2 TPI1 FECH ALAS2 IL17F MADD MKKS FANCC PYGL LIMK1 PEPD BLK AMACR MCCC1 TWNK MKS1 CNOT1 APC ATP7B NCF1 CD3D NDUFAF1 IL2RB RNU4ATAC CDKN2A NDUFA6 SAA1 FARSA PMS1 IL7R RNASEH2A FAH GAA ABCB11 BRCA2 NDUFS2 TTC37 LMNA SPTA1 PKHD1 ND3 IL17RA KRAS TMEM216 KLF1 IGLL1 BRCA2 DPAGT1 SPTB IGHM PEX16 FASLG PEX10 SOX10 SLC39A8 FAM111B DNAJC19 GDF2 INSR HLA-DRB1 MRPL44 PEX13 NDUFA1 CYBB NEU1 CD3E BSCL2 ATP6AP1 MLH1 PTPRC BCHE TNNI3 GPIHBP1 SNX10 KRT8 PTPN11 CC2D2A FBP1 ACAD9 GNPTAB IDUA CTSK XPR1 ACVRL1 TFAM CYBB TFR2 POLG HADHB MTTP NRAS ARSA LPIN2 CC2D2A CLCN7 DOLK NEU1 ADA SETBP1 FANCB STAT3 ABCB4 PEX6 PEX2 PEX10 ETFB SFTPC SLX4 TSC1 SLC25A13 PGM1 A2ML1 RPGRIP1L PHKG2 HMBS MEFV GABRD ITCH BRCA2 SEMA4A PLAGL1 TRMT5 PALB2 NDUFAF2 ASXL1 ABCG5 DMPK USP18 VPS33B TMEM67 UFD1 HYMAI C1QBP AXIN1 TREX1 HNF1B HNF4A ASAH1 SLC29A3 NOTCH2 UBE2T SRP54 GBA DKC1 JAK2 TSHR TCIRG1 BBS5 POLG2 ERCC6 MMAB HBB NFKB1 IL1RN KCNQ1 TMEM126B ACADM EIF2AK3 ABCB4 DNAJC19 TALDO1 ARL6 PEX12 AP1S1 STEAP3 UNC13D PEX5 HADHA HFE SP110 NFKB2 TRAPPC11 PHKA2 ANK1 IDS CPT1A RNF43 PCCB NDUFAF4 SETD2 KCNN4 ERCC4 CTLA4 INPP5E HMGCS2 DZIP1L NEUROG3 PEX16 JAM2 COG1 POU2AF1 PEX19 DIS3L2 CD28 POLG PEX5 RHAG ADA2 BPGM UROD BCS1L RBPJ WDR19 MRPS7 HNRNPA1 BMPER CPT2 H19-ICR SLC25A13 ADAR TMEM67 MTRR GYPC MLH3 HBA2 GFM1 EFL1 TERC DDRGK1 FOS BOLA3 TF GLB1 MEG3 BBS12 DPM1 AIRE LIG4 PARN HSD3B7 ATP7B PIGS TPO BBS2 PEX11B TRIM37 GLB1 PPARG DCLRE1C SCNN1A UQCRB GPC3 CYP7B1 ALG9 NHP2 IGF2 EXTL3 MAN2B1 COMT PRKCD BLNK MYORG IL2RG OSTM1 IL7R SLC17A5 GCLC ABCG8 SMPD1 APC ETFA RHAG WT1 SPRTN LIPA RAB27A RAG2 SDHC IER3IP1 NR1H4 SMAD4 CYTB BTNL2 ADAMTSL2 INVS GDF2 PSMB4 CLCN7 FGFR2 GNE PEX6 ARHGAP31 JAK2 MS4A1 GNE G6PD BBIP1 DHCR7 MPI TINF2 INSR ERCC6 CAVIN1 ATP6AP2 LBR BBS1 IFNG KIT RRM2B LIPE HNF4A LMNA JAK3 BMP2 ABCG8 PIK3C2A LMBRD1 IFT172 PEX3 NBAS IFT140 BTK AMACR HBG1 CTBP1 LZTFL1 BTNL2 PEPD KCNJ11 GALT GAA SNX14 MFN2 SEC63 MYC ERCC6 DYNC2I1 TP53 CASR NKX2-5 BBS10 RAD51C NAB2 MPV17 TMEM67 GALE PSAP PEX13 REST TGFBR2 PRPS1 PLEKHM1 TTC8 CLIP2 ABCC8 H19 CYBC1 ELN RAG1 PKD1 NPHP1 EPB42 CLEC7A HIRA GP1BB DYNC2LI1 TCIRG1 CYP27A1 SLC26A4 PMM2 FERMT3 HSD17B4 PEX3 ELN FUCA1 EXTL3 HJV TMEM67 MYD88 AGGF1 ARSB MOGS RIPK1 KCNN4 NDUFAF5 HFE NOTCH1 PMS2 DUOXA2 FOXP3 WDR19 USP9X TRMU ND4 SDCCAG8 AP3B1 CBL APOC2 LPL CD28 PKHD1 SON LIPE PPOX TCF3 SUMF1 CA2 HESX1 CC2D2A PDGFRB CEP83 STXBP2 TARS2 GLRX5 HNF1B PCK1 IFT122 TET2 SLC40A1 BBS4 SLC7A7 ARL6 ABHD5 BCS1L STK11 PEX2 PCCA TTC37 DOCK6 DAXX INPPL1 DIS3L2 KRAS TNFRSF13C PRSS1 AP1B1 HSD17B10 SF3B1 SLC25A19 TERT DYNC2I2 TNFRSF1B FANCD2 SLC30A10 IL7R LMNA AGL GPC4 FECH H19-ICR TRNV NAGA RMND1 CIITA KIT GBA G6PC3 CEP290 PEX26 GUCY2D NDUFB10 TRMU TJP2 TMEM67 DNAJC21 PEX26 IL12RB1 SH2D1A XRCC4 SLC25A4 IDUA IL2RA ARG1 PEX19 NDUFA11 NDUFS3 MED25 GBA SLC35C1 HJV IQCB1 MRPL3 SP110 EPB42 VPS13A NAGA SERPINA1 NHP2 SLC4A1 ATP8B1 LIG4 ADK SLC25A20 RAG1 CEP55 RRAS SLC22A5 SKIV2L CLDN1 PSAP TREX1 ZAP70 ALDOB LMNA GATA2 ND2 ND5 IFIH1 IFNGR1 BRCA1 SLC7A7 NDUFS7 FGFRL1 APOE GATA6 JAM3 GCDH UGT1A1 CBS AP3D1 SOS2 ABCA1 NPHP3 TKFC FOXRED1 LIPA PEX3 CSPP1 ACAT1 PCCB CASP10 ALDH7A1 TNFRSF13C FADD BLVRA PPARG GCK KPTN MECP2 LBR AP1B1 PCCA SBDS KCNH1 SLCO1B3 MRAS MRPS28 TNFSF11 CYP7B1 DCDC2 PDGFRA PEX1 SLC25A15 NPHP3 ADA SLC20A2 LIPA PRF1 ND3 TRAF3IP1 ACAD9 GBA SLC4A1 GBA JAK2 TNFRSF11A SUMF1 GUSB CD40LG MSH2 DHCR7 LARS1 MMACHC F5 MIF GUSB ABCC2 NSD2 TRIM32 GBA LBR NCF2 MAN2B1 CEP290 FOXP3 RAC2 PKD1 TNFSF15 RELA SDHA TPP2 SDCCAG8 CIDEC RAG1 STAT6 CDKN1C IFT43 HAVCR2 HMGCL HBB SLC4A1 ACP5 XIAP RNASEH2A IL2RG ATP7A SPTB POLR3A AGPAT2 BTK CARS2 ALG13 ERCC1 ATRX TMEM231 ND1 COG7 IDUA MUC5B COG4 PRKCD NPHP4 LRRC8A RMRP SPINK1 PIEZO1 MPC1 EARS2 ABHD5 NDUFAF3 LCAT PSAP ABCA1 ABCD3 C1S CPA1 KCNJ11 LONP1 CTCF GANAB MSH6 TSC2 PEX14 DGUOK TNFSF12 TMEM107 PEX16 SLCO2A1 COG2 SDHB TRNL1 IDS CHD7 SLC37A4 BSCL2 DPM2 NAGS B2M ARSA CTNNB1 TNNT2 SRP54 CAV1 RPS20 SLCO1B1 DYNC2LI1 LYST PLIN1 CD19 HMOX1 APOA1 ADAMTS13 CCDC47 CYP7A1 ND2 SLC25A1 EIF2AK3 CPOX CPOX CIDEC ITCH APC2 SERPINA1 GPD1 PTRH2 LYRM4 GBA UGT1A1 APOE PFKM POLG TNFRSF1A SPIB CLCN7 YARS2 NSD1 NDUFS8 F5 KCNN3 LMNB2 DYNC2I1 RHAG GNMT HYOU1 TBX1 TNFSF12 EPCAM JAK2 PEX14 ATP8B1 TBL2 MLH1 AKR1D1 TBX19 ATP11C FANCE PDGFRA TGFB1 CTNS NCF2 PNPLA2 TNFRSF1B CEP120 DDRGK1 RFC2 FUCA1 SLCO1B1 PSTPIP1 NPHP3 SLC40A1 CTRC UGT1A1 NDUFS1 TMEM165 RNASEH2C NSD2 TRNW LHX3 FH RRM2B NOP10 PEX5 PEX19 IL12A IL6 FLT1 CD19 SURF1 LTBP3 SMPD1 BBS1 MPV17 B9D2 BRCA1 BSCL2 MPL PSMB8 DCTN4 KRIT1 CLCA4 CTSC LRP5 PROP1 ASL CLCN7 TRIP13 SLC25A19 FCGR2A MST1 ANKS6 ALDOA TRAF3IP2 TBX1 IDS SRSF2 TRIM28 WDPCP ALG8 CD79A PIK3R1 NOP10 TRNS1 TRAF3IP1 ALG2 RAF1 SCNN1G COG6 CD79B HEXB CTSA CPT2 PRDM16 STOX1 ASAH1 SC5D NDUFS7 HK1 TALDO1 NUBPL RPGRIP1 COX15 MAGT1 PAX8 ABCA1 STEAP3 HADHA TERC PHKA2 RTEL1 INS CYBA NDUFB3 PEX12 GPC3 HADH CASR SMAD4 RASGRP1 HBB CASR GBE1 RERE DMPK ICOS FADD MAD2L2 DCDC2 PNPLA6 SKI LMNA ABCB11 EOGT WT1 SEC23B TRNW ICOS RFX5 SLC25A13 ABCB4 GLB1 DCLRE1C ALMS1 NCF1 HBG2 CYBC1 CDAN1 FGA PARS2 LRPPRC RPGRIP1L IL2RG LHX4 KCNH1 TBX19 CDIN1 ACOX1 HBB TMPRSS6 TNFRSF13B LMNA TET2 HAMP NRAS PEX26 TP53 PNPLA2 POU1F1 WRAP53 FAS ABCG8 SAMHD1 WDR35 NDUFV1 ATP7A RFXAP TMEM199 G6PC1 PEX6 CCDC28B KRAS GTF2I DGUOK HGSNAT APOA1 NHP2 TG NEK8 IFIH1 TERT RUNX1 CLPB RNASEH2C ALG1 CIITA HADHA COX14 SLC11A2 RNU4ATAC OFD1 XYLT1 WDR35 EFL1 CD27 BMPR1A PEX2 RBM8A ATP8B1 MKS1 POLD1 NSMCE2 RAD51 POMC MMUT PRKCSH HBA1 CAV1 XRCC2 ITK VHL BICC1 RECQL4 AUH ERCC6 PKLR FARSB RAB27A NAGLU CTC1 PRSS2 PEX5 SLC5A5 LYST GBA JAG1 MYPN C4B LETM1 STX1A RFWD3 APC CFTR CEP290 WHCR GPC4 ICOS RFXANK CDKN1B ERCC8 HPD CA2 ND6 ACADM PRKAR1A MLXIPL VIPAS39 LZTR1 HLA-DRB1 MPL INPP5E PAX8 CD55 HLA-DRB1 MVK DKC1 DLK1 DYNC2I2 APOE KRT8 UGT1A1 POU1F1 SGSH GPR35 BAZ1B ERCC4 NDUFAF1 FBN1 RFT1 HBA1 WT1 TERC PIK3CA GNAS ATP6V1B2 PEX1 CPT2 ATP6 COA8 ACOX1 TCTN2 GANAB TMEM67 KCNAB2 VPS33A GALNS CEL PYGL NEU1 XIAP GALM BTD PRKAR1A FGFR2 MVK

Protein Mutations 5

C282Y G20210A H63D I148M V617F

SNP 8

rs12979860 rs2281135 rs2294918 rs58542926 rs641738 rs73049 rs738409 rs8099917