SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03518294

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

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 Thrombosis Digestive System Diseases Gastrointestinal Diseases Hematologic 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

Description: Subjects in the aerobic exercise group will be supervised to exercise 30 minutes, 5 times per week at a moderate intensity. Formal exercise instruction and supervision will be provided by ACSM certified fitness professionals at the Penn State University Fitness Center. Aerobic exercise can be completed on either the treadmill, exercise bike, rowing machine or the elliptical machine.

Type: Behavioral

Aerobic Exercise


Primary Outcomes

Description: The primary outcome of interest is change in fibrinolysis as measured by PAI-1 level immediately following completion of the exercise program.

Measure: PAI-1 level

Time: 5 months

Secondary Outcomes

Description: hemostatic marker

Measure: Change in von williebrand factor (vWF)

Time: 5 months

Description: hemostatic marker

Measure: change in p-selection

Time: 5 months

Description: hemostatic marker

Measure: change in protein S

Time: 5 months

Description: hemostatic marker

Measure: change in factor VIII

Time: 5 months

Description: hemostatic marker

Measure: change in fibrinogen

Time: 5 months

Description: hemostatic marker

Measure: change in antithrombin

Time: 5 months

Description: hemostatic marker

Measure: change in protein C

Time: 5 months

Description: fibrosis marker

Measure: change in adiponectin

Time: 5 months

Description: genotyping subjects (GG, GC and CC genotypes)

Measure: Patatin like phospholipase-3 (PNPLA3) rs738409 polymorphism

Time: 5 months

Description: hemostatic marker

Measure: Change in PAI-1 stratified by PNPLA3 genotype

Time: 5 months

Description: measured by magnetic resonance imaging proton density fat fractionation (MRI-PDFF)

Measure: change in % hepatic fat

Time: 5 months

Description: hemostatic markers

Measure: correlation between VO2 max and hemostatic markers

Time: 5 months

Description: quality of life

Measure: health related quality of life (HRQOL) change

Time: 5 months

Description: fibrosis

Measure: change in hepatic fibrosis stage

Time: 5 months

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:
Abnormality of blood and blood-forming tissues
Genes 1081
EPHB4 TACO1 GP6 TSR2 EPO EPOR RPL26 RPL27 GLRX5 ABCA1 SLC29A3 ERCC2 RPL35A ABCB7 ERCC3 BRIP1 LZTR1 ERCC4 ABL1 IRX5 RNF168 ERF ZMPSTE24 MAN2B1 MAP1B ACAT1 DNAJC19 MARS SLC35C1 MAT2A NT5C3A ACP2 MAX ACP5 NCF1 RPS7 ACTA2 RPS10 CD109 RPS14 RPS15A ACTC1 ETV6 TCIRG1 EVC MECOM RPS17 MCM4 RPS19 IKZF1 RPS20 ACTN4 EWSR1 TRAC CD46 EXT2 RPS24 ACTN1 RPS26 ACTN2 TMEM173 RPS27 EXTL3 ACVR1 RPS28 RPS29 MAGT1 RRAS ACVRL1 DTNBP1 MDH2 RREB1 MDM2 F2 ADA ADAR RS1 F5 F7 PICALM F8 KLRC4 F9 F10 F11 F12 MYSM1 F13A1 MEFV PHF21A F13B RYR1 STN1 TBC1D24 BAP1 FANCA FANCC FANCD2 FZD4 FANCE ACSL4 GFI1B FAH MET FANCB FANCF FANCG SAA1 SAMD9L MGAT2 FBN1 PANK2 OTULIN AEBP1 CIITA SC5D COG6 ARHGAP31 FKTN POMP FDX2 AGA RNASEH2C FECH SCN5A AGXT AHCY SCN9A SCN10A FGA MLF1 FGB MLH1 SCO1 AK1 AK2 AKT1 NOP10 ALAD ALAS2 FGFR2 HAX1 MMP1 FGG MAD2L2 FH ALDOA FHL2 DOCK6 ALDOB SLC30A10 SEC23B SDHA RAD54L SDHB SDHC SDHD ALPL FOXE3 MPI MPL MPO FOXN1 FLI1 FLNA KLF11 FLT3 FOXRED1 FMO3 LAMTOR2 HYOU1 ANK1 FN1 NEBL OSTM1 CISD2 RNASEH2A CTC1 MCFD2 PUF60 SGCD SGCG ACAD9 SH3GL1 PEX3 FERMT1 DOLK SLC35A1 SLC19A2 LARS APC ARFGEF2 ANKRD26 IKBKG AIRE BIRC3 XIAP NLRP1 DGKE APOA1 NPC2 APOB MSH2 CHD7 FASTKD2 TXNRD2 APOE APP FANCM AP3B1 FAS NHP2 FASLG TMEM127 TCAP COA8 TDP2 ABCC6 RBM20 SLC2A1 HPS3 PEX26 ARF1 SLC4A1 EPG5 CASK FAN1 MTFMT MSN WDR19 MST1 TRMU NBAS C1GALT1C1 HSD3B7 LIPT1 PIGT MLH3 TNFSF11 ACAD8 MTAP STS FAM111A SLC12A3 LAT COX1 COX2 UBE2T G6PC3 COX3 ARVCF KLF1 DYNC2LI1 MTHFD1 ASAH1 FARS2 MTOR ELMO2 SLC20A2 RFXANK TP63 SLCO2A1 HBB-LCR ANKRD1 ND1 ND4 NAXD ND5 ND6 ANKRD11 MTTP MTR PUS1 GATAD1 AGK MTRR SMARCD2 SERPINC1 FOXP1 TRNF CARD11 NDUFAF6 SMPD1 TRNH FUCA1 TRNL1 ATM HAMP TRNN TRNQ TRNS1 SLC4A4 TRNS2 OCLN FUT8 TRNW STX11 ERMARD FYB1 MUC1 SPATA5 PRDM16 G6PC G6PD LMBRD1 SLC37A4 SLX4 MMUT MVK SOS1 MYBPC3 SOS2 LYRM7 MYC MYD88 UBR1 ATP6V1A MYH6 ATP6V1E1 MYH7 MYH9 GALC MYH11 SPARC EOGT ATP6AP1 ATP7A ATP7B MYLK GALT ATR ATRX SPINK1 CHST14 TNFSF12 RTEL1 ERAP1 JAGN1 C15ORF41 TMEM165 ARHGAP26 SPTA1 SPTB B2M KIF1B SRC AKR1D1 GATA1 GATA2 GATA6 GBA CDH23 SRP54 NBN SRP72 UNC13D GCDH NCF2 NCF4 SLC46A1 CCND1 BCL2 GCK NDP NDUFA2 TNFRSF11A FTCD NDUFA4 GCNT2 BCL6 SSR4 CLPX PEX11B SLFN14 NDUFA9 NDUFA10 GDF2 COQ2 BCR ADA2 BCS1L NDUFB8 DPM1 NDUFS1 GFI1 NDUFS2 MMADHC NDUFS3 NDUFV1 NAGS NDUFS4 STAT1 GGCX STAT3 STAT4 NDUFS8 NDUFV2 STAT5B B4GALT1 NOD2 BLK BLM STIM1 NUTM1 STK4 CBLIF IFIH1 CDAN1 STK11 MALT1 BMPR1A ZNF469 BMPR2 NEU1 NEUROD1 NF1 BPGM GLA STXBP2 NDUFA12 BRCA1 GLB1 TMTC3 BRAF BRCA2 GCLC CARD9 SGPL1 GLI1 NFIX ABCC8 SURF1 NBEAL2 NFKB1 BTK NFKB2 MYPN BUB1 A4GALT CYP26C1 BUB1B VPS13A PACS2 C1R C1S C2 GNA11 C4A BCL10 ADAM17 CAPN5 GNAQ GNAS SEMA4A COX4I2 GNB1 NME1 TAL1 TAL2 TALDO1 AP3D1 ABCG5 ABCG8 NOTCH1 TBX1 TAZ NOTCH3 SLC27A4 CA2 TBCE GP1BA GP1BB PNP SPINK5 TBX2 GP9 NPC1 NPHP1 TBXAS1 CYP4V2 GPI NPM1 SFXN4 CACNA1D CACNA1S TCF4 HNF1A TCF3 CAD PLOD3 SLC11A2 NRAS NEDD4L MLX TCN2 HTRA2 CALR GPR35 NTHL1 TMPRSS6 TAF1A CAPN3 GPX1 NUMA1 SLC19A3 NSD1 CASP10 CASR ADAMTS13 LMNB2 OCRL AIP SIK3 RUNX1 SLC7A7 CBFB TEK MPIG6B CBL PRDM5 LARS2 TERC TERT TF CBS TFAM OPA1 CLDN1 STT3B KRIT1 GSS TFR2 TFRC TGFB1 TGFB2 MMAA TGFB3 HAVCR2 UNC119 TGFBR1 TGFBR2 TGFBR3 MSH6 USP8 ORAI1 FCGR2C CORO1A THBD GTF2E2 CD3D LDB3 CD3E CD3G CD247 CD4 THPO SF3B1 THRA CD8A CD19 MS4A1 DCLRE1C GUCY1A1 ZNF341 CD27 IL12A-AS1 CD28 ETHE1 GYPC CD36 BRD4 BTNL2 SCARB2 ISCU TLR4 PRDX1 CYCS CD40 SERPINE1 CD40LG CHEK2 TREM2 ERCC6L2 TNFRSF13C CD59 LRRC8A TNFRSF13B TMPO CD70 CD79A CD79B CD81 CD151 PARN SERAC1 PAX4 RPL35 TNFAIP3 HADH LRBA TNFRSF1A TNFRSF1B TNNC1 SEC63 HBA1 BUB3 HBA2 TNNI3 HPS5 KAT6B HBB PDCD10 TNNT2 HBD MMAB CDC42 HBG1 PCCA HBG2 PCCB TNXB SERPIND1 TP53 ATP6V0A2 COX14 PCNT XPR1 PIGM HELLS TPI1 TPM1 CFH CDKN2A TPP2 TMEM67 USP18 TREX1 ASXL1 SCN11A PDE4D CEBPA HK1 CEBPE CEL HLA-B PDGFB PDGFRA PDGFRB PDHA1 HLA-DPA1 ATOH7 HLA-DPB1 VPS45 ENPP1 AMACR HLA-DRB1 CFTR PEPD BLNK CTRC HLCS PEX1 PEX6 DNAJC21 PEX10 PEX12 PEX13 PEX14 KCNE5 TSC1 TSC2 HMGCL HMOX1 PFKM HNF4A TRIP13 TTN LYST PGK1 ALX4 NLRC4 PGM1 SLC39A13 PGM3 HIRA RNU4ATAC TNFRSF4 TUBB1 SLC2A10 HOXA11 TYROBP VKORC1 ICOS PIGA CLCN7 CLCNKB COG1 PIK3CA PIK3CD PIK3R1 HPGD CLN3 SHPK HPRT1 RIN2 RECQL4 HPS1 UFD1 A2ML1 RAD54B SNX10 PEX16 PKLR GTF2H5 HRG CRIPT CYP7B1 ALG8 UMPS COL14A1 CCR1 PLAT PLAU PLEC ABCC2 PLG UROD UROS SERPINF2 PLN PLOD1 SEC61A1 ALG6 EIF2AK3 KDM6A NIPBL ALG12 COG4 HSPA9 VCL PML COL1A1 PMM2 COL1A2 COL3A1 COL4A1 PMS1 COL4A2 VHL COL4A5 COL5A1 COL5A2 COL7A1 PIGL BEST1 PMS2 KIF23 VWF COL17A1 NDUFAF5 WAS COMT WIPF1 ADAMTS3 ADAMTS2 P2RY12 DLL4 WFS1 POLE RRM2B POLG SMARCAL1 MPDU1 EGLN1 NDUFAF3 BAG3 COX6B1 WT1 COX8A COX10 COX15 CP CPA1 XK SAMHD1 IDH1 IDH2 CPOX NABP1 XRCC2 XRCC4 CPT2 NSMCE2 CFI CR2 SP110 CREBBP ZAP70 ALG2 MMACHC CRYAB IFNG IFNGR1 BCL11B GNA14 SEC24C CSF3R IGH PRF1 IGHM TTC37 SETBP1 RBPJ PRKACA CST3 LPIN2 PRKACG MPLKIP PRKAR1A CYP4F22 APPL1 PRKCD BLOC1S3 CTLA4 PRKCSH IGLL1 PRKG1 CTNNB1 CTPS1 MAP2K1 MAP2K2 CEP57 IL2RA NEXN CTSK IL2RG PRLR IL7R CYB5A PROC SEMA3E PROS1 CYBA CYBB IL10 IL10RA COX20 TET2 IL12A IL12B CYP2A6 PRSS1 PRSS2 IFT140 NLRP12 NDUFS7 CYP2C9 ZBTB16 ZBTB20 SAMD9 PRTN3 PLVAP PSAP PSEN1 PSEN2 ACD INHBA PET100 INS CYP11B1 CYP11B2 PIEZO1 CYBC1 RNF113A VPS33A PSMB4 BMS1 PSMB8 PSMB9 PDX1 CD55 PTPN22 DAXX DBH NHLRC2 ITGA2 ITGA2B PTEN NPHP4 NSUN2 ITGB2 ITGB3 ITGB4 GINS1 RNF43 ZBTB24 PTH1R PLEKHM1 DDOST PHGDH ITK HELLPAR FBXL4 IVD JAK2 JAK3 DES BLOC1S6 CCM2 PTPN11 ARL6IP6 SARS2 PTPRC CLPB VPS33B TINF2 SDHAF2 FIG4 CXCR4 KCNJ1 KCNJ5 DGUOK HPS4 DHFR KCNJ11 CYB5R3 PEX19 DIAPH1 SLC25A38 ABCD3 ABCD4 PEX2 PEX5 KCNN4 DKC1 KCNQ1 FIP1L1 DLD ATP11C RBM8A DMD RFT1 AMMECR1 KIT KLKB1 DNASE1L3 RAB27A NR1H4 IL23R KIF11 RAC2 DNM2 FKBP14 FERMT3 DNMT3A PDE11A DNMT3B FOXP3 RAD51 RAD51C DOCK2 RNASEH2B KRAS DPAGT1 RAF1 KRT1 RAG1 RAG2 KRT5 SCO2 EFL1 RANBP2 FAT4 CYSLTR2 KRT14 EVC2 RARA AMN SRD5A3 RASA1 RHBDF2 RASA2 SH2B3 USB1 GNE DSG2 RB1 NDUFAF2 DOCK8 LAMA3 AGGF1 LAMA4 FARSB ABCB6 LAMB3 DNM1L ABCC9 LAMC2 SALL4 FANCL RPSA REN NUP214 LBR LCAT RET LCK COLGALT1 MLLT10 CUBN WRAP53 TYMP ECHS1 PPCS AAGAB TBL1XR1 RFX5 RFXAP JMJD1C ARPC1B LEP CSRP3 LEPR PALB2 RHAG NLRP3 RFWD3 YARS2 PNPO ESCO2 RIT1 TTC7A NDUFA13 SLC17A5 RMRP MRPS7 MFAP5 RASGRP1 LIG4 ANGPTL6 LIPA KMT2D TRNT1 ABHD5 LMAN1 LMNA CDCA7 AASS ANO6 CCBE1 SBDS LOX FANCI SLC25A15 ARMC5 SAR1B LPP HPS6 IRAK4 ELANE STEAP3 LRP5 UBAC2 ELN GREM1 NHEJ1 SH2D1A ENG EPCAM RPL5 EP300 EPAS1 VPS13B EPB41 EPB42 RPL11 SMAD3 SMAD4 RPL15 RASGRP2 RPL18
Abnormality of the gastrointestinal tract
Genes 1220
MKKS GPHN EPHX1 UBA5 EPRS AARS ERBB2 SLC29A3 ERCC2 ABCA3 SF3B4 AMER1 BRIP1 ERCC4 ABL1 IRX5 ZMPSTE24 STUB1 STAG1 AICDA MAP1B MAPT PYROXD1 USP9X SMC1A ACOX1 RPS6KA3 NCF1 ACTA1 ACTA2 TMEM216 ACTB SLC6A19 MC1R LRRK2 KIAA0319L ZFP57 CD109 NAA10 ACTG2 TCIRG1 MMP21 DHDDS LAGE3 MCM6 RPS19 IKZF1 RPS20 EWSR1 KLHL41 EXT2 EXTL3 EYA1 ACVRL1 RREB1 MDM2 F2 COLQ ADAR GRHL2 F5 KCNK9 F7 MECP2 KLRC4 F9 F10 ADCY6 F11 F12 F13A1 MEFV MEIS2 ACOX2 F13B RYR1 MYORG STN1 AXIN1 ADD3 TBC1D24 AXIN2 BAP1 SPG21 MEN1 CDC45 MEOX1 FANCA FANCC FANCD2 GREB1L FANCE SHROOM4 GFI1B FAH MET FANCB DACT1 FANCF FANCG TUBB4A SAA1 ARID1B FBN1 PANK2 FBN2 DLC1 SALL1 SFTPA2 KITLG MGMT MBTPS2 CIITA ATXN1 COG6 ATXN2 ARHGAP31 FKTN ATXN7 ATXN8OS AGA JAG1 SCN3A MID1 SCN4A ARL13B MITF SCN8A AHCY GPC4 ATXN3 SCN9A WDR35 FGA FGB MLH1 CC2D2A KMT2A AK2 SFTPA1 FGF8 PLA2G6 AKT1 FGF12 NOP10 FGFR1 FGFR3 FGFR2 IFT80 MMP1 FGG MAD2L2 TP53RK FH PIBF1 TRMT5 DOCK6 ALDOB LTBP4 SLC30A10 SLC9A6 FOXG1 SEC23B SEC23A SDHA FOXF1 SDHB SDHC FOXC1 SDHD OPLAH MPI FOXE1 MPL MPZ FLI1 MRE11 FLII FLNA KLF11 SEMA3C FRAS1 BIN1 CLCA4 FBLN5 CCDC22 DEAF1 FMR1 HYOU1 NOP56 SLC25A4 CISD2 SFTPC CTC1 PTF1A PUF60 PPM1D FOS KLHL40 FLVCR1 PEX3 CEP290 CNTNAP1 AGPAT2 ARX FERMT1 SLC19A2 KCNAB2 APC ITGA8 ARFGEF2 TMEM138 SHH ELP1 AIRE FUZ NTNG1 XIAP SI SLC39A4 ALS2 NPC2 SPG11 CNKSR2 ARMC9 MSH2 CHD7 MSH3 ZSWIM6 POMT1 FXN OSGEP APP SIX1 SIX3 FANCM SKI PIGV FAS NHP2 SKIV2L FASLG SLCO1B1 GBA2 SLC1A2 AR ABCC6 SLC2A2 PEX26 ARF1 CYFIP2 TRAK1 SLC5A1 FAN1 PRKRA MSR1 SLC6A3 MST1 SLC6A8 SLC6A9 PACS1 HSD3B7 VAC14 ARL3 IARS2 MLH3 SLC9A3 NPHP3 PIEZO2 POLR3B ARSA SLC10A2 STS ATP6 GPIHBP1 SPINT2 DKK1 COX1 COX2 UBE2T COX3 ARVCF ASAH1 FARS2 SLC18A3 ASCL1 PDE8B SLC25A1 RFXANK TP63 SLCO2A1 FRG1 FLAD1 MTM1 TBK1 ND1 ND2 ND3 VPS35 ND4 ASPA ND5 ND6 SNAI2 DCHS1 NUP133 PTCH2 PTRH2 ANKRD11 MTTP B9D1 RSPO2 ABCB11 MRPS34 FLCN TRNE TRNF C11ORF95 FTL SMO TRNH TRNK TRNL1 ATM NGLY1 SNAP25 RERE FUS TRNQ TBC1D23 ATP1A3 TRNS1 SNCA TRNS2 C9ORF72 RNASEH1 TRNV TRNW SUFU ERMARD SNRPB ATP2A2 PRDM16 G6PC SLC37A4 PALLD SLX4 MUSK MEGF10 MUTYH H19 AFF4 DGAT1 MVK RAI1 SOD1 MGME1 MASP2 SON GABRB2 MYC SOX2 SOX3 GABRD SOX5 MYCN MYD88 SOX10 UBR1 MYF6 ATP6V1A INTU MYH7 MYH8 UPB1 MYH11 B4GALNT1 EOGT SETX EMC1 ATP7A DIS3L2 ATP7B WWOX MYLK SPG7 RIPK1 WDR4 SPIB ATRX SPINK1 KIF1A CHST14 MYO5B TNFSF12 RTEL1 ERAP1 MYO9A MYOD1 NEXMIF ZNF423 GJB6 B2M IQSEC2 BAAT SRC GAS1 HDAC8 AKR1D1 GATA1 CPLX1 GATA6 BARD1 GBA BBS1 SPART GBE1 SRP54 FGFRL1 NBN SIK1 NCF2 NCF4 SLC46A1 CCND1 GCH1 GCK POGZ PLXND1 COL25A1 NDUFA6 SSR4 PEX11B SRCAP NEB NDUFA9 GDF2 COQ2 BCR ADA2 NDUFB8 GDNF NDUFS1 GFI1 NDUFS2 GFPT1 NDUFS3 BDNF HESX1 FREM1 STAT1 STAT3 STAT4 SYNGAP1 SLC52A3 BLK BLM CBLIF TUBB6 NEFH CDKL5 FCSK STK11 TTBK2 NEK1 BMPR1A GJB1 GJB2 STX1A NEUROD1 NEUROD2 STX3 NF1 STXBP1 GLA GPC3 BRCA1 TMTC3 BRAF BRCA2 SYNJ1 PMPCA KLHL7 SQSTM1 GLI2 GLI3 ABCC8 SURF1 GLRA1 NFKB1 BTK GLRB NFKB2 MYPN NFKBIA BUB1 AFG3L2 VAMP1 BUB1B CFC1 VPS13A SERPING1 MYMK SMG9 HYLS1 SYT1 C1R GNA11 IRF2BPL KIAA0556 C4A CACNA1G ATP11A BCL10 MCEE ADAM17 GNAO1 GNAQ TAF1 GNAS SEMA4A DDHD2 COX4I2 STRA6 CAMTA1 FOXH1 PHOX2B MAP3K7 NODAL KCNQ1OT1 MYRF NONO NOS1 GNS PIGO NOTCH1 TBX1 NOTCH2 NOTCH3 TBCE GP1BA GP1BB TBP SPINK5 GP9 NPC1 NPHP1 NPHS1 CACNA1A TCF4 TBX3 HNF1A HNF1B TCF3 DNAJC13 RPGRIP1L CARMIL2 NRAS NEDD4L MLX TCOF1 NRTN SZT2 GPR35 CAMK2B NTHL1 HCN1 TMPRSS6 MYO1H NTRK2 DOK7 ROR2 NUP88 HGSNAT NR4A2 SLC19A3 BAZ1B CASP8 CASP10 TWIST2 MUC5B RIPK4 TDGF1 OCRL SYT2 SPECC1L CAV1 GRIN2D PSTPIP1 GRM1 SLC7A7 TEK TERC CHAMP1 SERPINH1 TERT NXN ATP13A2 CBS TFAP2A DICER1 OPA1 POLR3A SIX6 TGFB1 GRIP1 TGFB2 TGFB3 ORC1 TGFBR1 ORC4 TGFBR2 TGIF1 TARDBP LMOD3 MSH6 COL18A1 FCGR2C OTC CD3E KLLN CD3G OTX2 ERLIN2 GTF2I DPP9 LINGO1 ATAD1 CD19 MS4A1 MTMR14 DCLRE1C SMC3 GUCY1A1 GUCY2C IL12A-AS1 TK2 BTNL2 SCARB2 GYS2 TLR4 PAH SLC6A5 CHEK2 TREM2 PAK1 TNFRSF13C LRRC8A TNFRSF13B MACF1 CD79A CD79B CD81 WDR73 ZFYVE26 PARN HABP2 PAX3 PAX4 TNFAIP3 LRBA TNFRSF1A CDC6 SEC63 BUB3 POLG2 KAT6B HBB CDH1 AGRN HCCS TNXB PIK3R5 TNPO3 CDH11 DISP1 TOP3A TP53 PCNA HTT CDK4 HELLS LARGE1 CHMP1A VAPB TPM2 CDKN1A PCSK1 TPM3 CDKN1B CDKN1C PIGN CDKN2A HFE CDKN2B CDKN2C CDKN2D H19-ICR TMEM67 TREX1 ASXL1 POU6F2 HIVEP2 CRLF1 REPS1 CEL HLA-B PDGFRA PDGFRL MNX1 CENPF PDGFRB LEMD3 HLA-DPA1 ORC6 HLA-DPB1 HLA-DQA1 HLA-DQB1 ENPP1 AMACR HLA-DRB1 CFTR GDF6 BLNK SLC5A7 PEX1 PEX6 DNAJC21 PEX10 HMBS PEX12 PEX13 PEX14 CHAT TSC1 TSC2 CHD4 NUP62 ATP8B1 WNT4 TSPYL1 PFN1 CHN1 HNF4A TRIP13 ATXN8 LYST CHRM3 TRIP4 CHRNA1 TERF2IP NLRC4 HNRNPH2 CHRND HNRNPU CHRNE CHRNG HIRA TWIST1 ABCB4 EFTUD2 SLC2A10 HPCA TYROBP HOXB1 LONP1 SERPINA1 AP1S1 AP2S1 ICOS CLCN1 PLAA PIGA NRXN1 NALCN HOXD13 PIK3CA PIK3R1 UBTF HPGD SHPK HPRT1 RECQL4 HPS1 UFD1 SLC35A2 PITX2 CLTC PKD1 RETREG1 FBXO7 PEX16 HRAS PKHD1 CTHRC1 TJP2 LMOD1 CYP7B1 ALG8 PLAGL1 COL14A1 CCR1 CCR6 ATXN10 PLCG2 PLEC ABCC2 PLG UROD MED17 TXN2 GMPPA PLOD1 PLP1 EIF2AK3 KDM6A NIPBL COG4 VARS HSPA9 VCP COL1A1 PMP22 COL3A1 POMT2 PMS1 SLC25A24 COL5A1 COL5A2 NDUFB11 TRAPPC11 COL7A1 EXOSC9 PMS2 KIF23 MAGEL2 TBX4 COL13A1 UBQLN2 VWF MYOT PNLIP WAS COMP COMT WIPF1 ARV1 KLF6 ADAMTS3 ADAMTS2 CLIP2 DLL4 FKRP WFS1 WHCR NSD2 POLA1 INPP5E POLD1 FA2H WNT3 POLE RRM2B POLG WNT7A EFEMP2 POT1 NDUFAF3 SH3KBP1 POLR1C WRN WT1 COX7B PORCN POU2AF1 TWNK RFX6 SIN3A IDH1 MINPP1 IDH2 XRCC1 PPARG XRCC2 XRCC4 IDS GABBR2 PNKD GTF2IRD1 CR2 GDF3 SP110 CREBBP YWHAG SHANK3 ZAP70 SH2B1 CRKL NECAP1 CHMP2B ZIC2 ZIC3 CRYAB PPP2R5D IGF2 IGF2R PPP3CA SNCAIP MMEL1 KANSL1 SEC24C IGH PDP1 IGHM TTC37 NUS1 C12ORF65 SETBP1 RBPJ LPIN2 CEP41 GEMIN4 PRKAR1A KBTBD13 GIGYF2 SLC13A5 APPL1 PRKCD PRKCG CTBP1 CCN2 CAVIN1 CTLA4 PRKCSH IGLL1 CTNS MAPK1 CTNNB1 CTNND1 MAP2K1 MAP2K2 CEP57 IL2RA NEUROG3 PRNP SEMA3E CYBA PRPS1 CYBB IL10 CEP104 IL10RA IL10RB TET2 IL12A IL12B IL12RB1 TCTN3 PRSS1 KIF1BP CHCHD10 DDX59 AHI1 SAMD9 PRTN3 PLVAP PSAP HDAC4 PSEN1 REEP1 ACD TMEM237 INHBA INS PIEZO1 MATR3 CYBC1 CYP27A1 KIAA0586 PTDSS1 DAB1 PDX1 CD55 ITGA6 SLCO1B3 IRF1 PTPN22 IRF5 DAXX ISL1 KEAP1 ITGA2 ITGA2B PSPH TGM6 DCC PTCH1 PTEN BCOR SLC30A2 WNK1 NSUN2 ITGB2 ITGB3 NEK9 ITGB4 DDC RNF43 ZEB2 DDIT3 ZBTB24 DDOST PHGDH MFF MKS1 FBXL4 JAK2 JAK3 FREM2 TIMM8A PTPN3 JUP TRMT10C KCNA2 CEP120 ANTXR2 RNF125 KCNB1 PROKR2 KCNC3 TINF2 SACS TECPR2 FIG4 KCND3 WASHC5 FGF20 CCDC47 CXCR4 PTS DGUOK DHCR7 C19ORF12 DHCR24 KCNJ11 TMEM70 ARNT2 IL21 DHODH PEX19 ABCD4 PEX2 PEX5 PYCR1 DKC1 KCNQ1 ALDH18A1 MAFB RBM8A DLEC1 KIF5A CDC73 SLC52A2 DMP1 TMEM231 DNM1 DMPK CPLANE1 QDPR HYMAI KIT TNFSF15 MED12 TCTN1 IL23R RAC2 CDON DNM2 DNMT3B RAD21 FOXP3 RAD51 RAD51C RAD51D KRAS SCO2 EFL1 DPYS KRT8 FAT4 B3GLCT RAPSN RARB RARS RHBDF2 WDR34 NUP107 KRT18 USB1 RB1 NDUFAF2 DSP EBF3 DOCK8 DYNC2H1 COG7 UBE3B L1CAM TPRKB KAT6A ASCC1 DVL3 DNAJB6 GLIS3 LAMA2 LAMA3 AGGF1 FARSB WDR60 LAMB2 B3GALT6 LAMB3 DNM1L LAMC2 SALL4 FANCL RELA LBR REST RET REV3L RFC2 WRAP53 ECE1 TYMP LCT DLL1 CCNQ PQBP1 ECM1 AAGAB SELENON MCOLN1 RFX5 RFXAP GMNN JMJD1C ARPC1B PALB2 LETM1 EDN3 EDNRB RFWD3 YARS2 KIF7 EEF1A2 RAD50 TTC7A SLC25A22 ERGIC1 RMRP LIFR POLR1D KY RASGRP1 MLXIPL LIG4 SEMA3D LIMK1 LIPA OPTN KMT2D AAAS HMGA2 MECR FAM13A LMNA LMNB1 RNF6 CDCA7 TRAPPC12 SETD5 PABPN1 TRIM28 COQ4 VANGL1 CCBE1 SBDS FANCI ARID2 SLC25A13 SAR1B AP3B2 SYT14 RLIM EIF4G1 LRP2 EHMT1 ELANE LRP5 UBAC2 CLMP ALG3 BSCL2 ELN GREM1 DCTN4 TANGO2 SPRTN ENG EPCAM CSPP1 TBL2 CD96 EP300 RPL10 RPL11 SMAD3 SMAD4 TCTN2
Abnormality of the liver
Genes 848
MKKS TACO1 GLRX5 ABCA1 SLC29A3 BRIP1 LZTR1 ERCC4 ERCC6 ZMPSTE24 MAN2B1 ACADL ACADM ACADVL ACAT1 DNAJC19 MARS ACOX1 NCF1 TMEM216 ETFA ETFB ETFDH SCYL1 TCIRG1 DHDDS MCM4 IKZF1 RPS20 EWSR1 CD46 EXTL3 RRAS ACVRL1 RREB1 ADA ADAR F5 IL17F MECP2 IFT43 MEFV STN1 AXIN1 MEN1 FANCA FANCC FANCD2 FANCE ADK ARL6 FAH TTC8 MET FANCB FANCF FANCG SAA1 FBN1 FBP1 SFTPA2 CIITA SC5D COG6 ARHGAP31 FDX2 AGA AGL JAG1 RNASEH2C MIF FECH AHCY GPC4 WDR35 FGA MLH1 SCO1 CC2D2A ANTXR1 AKT2 NOP10 ALAS2 FGFR2 IFT80 MAD2L2 FH TRMT5 ALDOA DOCK6 ALDOB SLC30A10 SEC23B SDHA FOXF1 SDHB SDHC SDHD DUOXA2 MPI MPL MPV17 FLI1 COG2 KLF11 DCDC2 CLCA4 ANK1 OFD1 OSTM1 SLC25A4 RNASEH2A SFTPC CTC1 ACAD9 SGSH FOS PEX3 CEP290 AGPAT2 DOLK IYD LARS KCNAB2 BBIP1 APC AIRE XIAP SLC39A4 APOA1 NPC2 APOB MSH2 CHD7 FASTKD2 APOC2 TMEM107 APOE CCDC115 TARS2 FANCM SKI AP3B1 FAS NHP2 SKIV2L FASLG SLCO1B1 COA8 SLC2A1 CEP164 PEX26 COG8 RBCK1 SLC4A1 CASK FAN1 WDR19 SLC5A5 MST1 TRMU NBAS HSD3B7 LIPT1 MLH3 VIPAS39 NPHP3 TNFSF11 ARSA ARSB ATP6 GPIHBP1 UBE2T G6PC3 ARVCF KLF1 DYNC2LI1 TRIM32 ASAH1 SLC20A2 SLC25A1 RFXANK SLCO2A1 ASL CIDEC ND1 ND2 SLC22A5 ND3 ND4 ND5 ASS1 ND6 PTRH2 B9D1 ABCB11 DDRGK1 MPC1 TRNE C11ORF95 SMPD1 IFT122 FUCA1 TRNK TRNL1 ATM NGLY1 HAMP RERE TRNN TRNS1 OCLN TRNV TRNW STX11 PRDM16 BBS12 G6PC G6PD SLC37A4 PALLD TRIM37 SLX4 MMUT GAA H19 ALDH7A1 MVK INVS SON SOS1 SOS2 MYC GABRD TRAF3IP2 MYD88 SOX10 UBR1 ATP6V1B2 DNAJB11 INTU MYH9 ANKS6 GALE EOGT GALK1 ATP6AP1 ATP7A DIS3L2 ATP7B GALNS GALT SPIB ATRX SPINK1 AUH TNFSF12 RTEL1 C15ORF41 TMEM165 SPTA1 SDCCAG8 DZIP1L SPTB B2M NAGA NAGLU AKR1D1 CPLX1 GATA2 GATA6 FADD GBA BBS1 BBS2 GBE1 BBS4 SRP54 FGFRL1 UNC13D GCDH NCF2 NCF4 GCGR GCK TNFRSF11A PEX11B GNMT GDF2 ADA2 BCS1L BBS9 DPM1 DPM2 NAGS HESX1 NDUFS4 STAT1 NOD2 BLK BLVRA IFIH1 CDAN1 STK11 NEK1 BMPR1A STX1A NEU1 NEUROD1 GANAB PNPLA6 BPGM STXBP2 GPC3 BRCA1 GLB1 BRAF BRCA2 BTD ABCC8 SURF1 NFKB1 SUMF1 BTK NFKB2 VPS13A C1QBP C1S C4B BMPER GNAS SEMA4A COX4I2 KCNQ1OT1 TALDO1 MYRF AP3D1 GNS ABCG5 ABCG8 NOTCH1 TBX1 ALG1 NOTCH2 CA2 GP1BB NPC1 GPD1 NPHP1 GPI IFT27 TCF4 HNF1A HNF1B TCF3 SLC25A20 RPGRIP1L SLC11A2 NRAS CALR GPR35 TMPRSS6 HGSNAT BAZ1B CASP8 CASP10 CASR IL17RC ADAMTS13 LMNB2 SPECC1L CAV1 BBS5 SLC7A7 TERC TERT TF CBS TFAM CLDN1 POLR3A KRIT1 TFR2 TG TGFB1 MMAA HAVCR2 TBX19 TGFBR2 B9D2 MSH6 GTF2I THRA THRB CD19 MS4A1 DCLRE1C CD27 CD28 GUSB GYPC BTNL2 SCARB2 GYS2 GUCY2D CD40LG TNFRSF13C LRRC8A TNFRSF13B CD70 PLPBP CD79A CD79B CD81 PARN HADHA MRPL3 PAX4 HADHB HADH TNFRSF1A TNFRSF1B SEC63 HBA1 HBA2 POLG2 SLC25A19 KAT6B HBB PC MMAB HBG1 PCCA HBG2 PCCB TNPO3 PCK1 PCK2 TP53 CEP19 COX14 XPR1 PIGM TPI1 CDKN1A HEXB PCSK1 CDKN1B CFH CDKN1C CDKN2A HFE TPO CDKN2B TPP2 CDKN2C H19-ICR TMEM67 USP18 TREX1 POU6F2 HK1 CEL TRHR HLA-B PDGFB PDGFRA MICOS13 PDGFRL PDGFRB VPS45 AMACR CTSC HLA-DRB1 SLC26A4 CFTR PEPD BLNK CTRC PEX1 CLEC7A PEX6 DNAJC21 DPM3 PEX10 HMBS PEX12 PEX13 PEX14 TSC1 TSC2 HMGCL TSHB ATP8B1 TSHR HMGCS2 HMOX1 PFKM HNF4A TRIP13 LYST HNRNPA1 HNRNPA2B1 NLRC4 PGM1 TUFM HIRA RNU4ATAC ABCB4 PHKA2 ERCC8 PHKB PHKG2 LONP1 SERPINA1 AP1S1 ICOS PIGA CLCN7 HOXD13 HPD PIK3CA PIK3R1 HPGD SHPK UCP2 RECQL4 UFD1 A2ML1 PKD1 SNX10 PKD2 PEX16 PKLR PKHD1 TJP2 CYP7B1 ALG8 PLAGL1 IL17RA UQCRC2 ABCC2 PLG UROD UROS HSD17B4 PLIN1 ALG6 EIF2AK3 COG4 VCP PMM2 HJV PMS1 VHL TRAPPC11 PMS2 KIF23 COMT CLIP2 DLL4 WHCR NSD2 NELFA INPP5E IARS POLD1 RRM2B POLG GNPTAB LZTFL1 COX6B1 WT1 POMC COX8A COX10 POU1F1 DUOX2 POU2AF1 COX15 CP TWNK CPA1 XK RFX6 SAMHD1 CPOX PPARG XRCC2 CPT1A XRCC4 IDS CPT2 GTF2IRD1 IDUA NSMCE2 CFI CR2 CTSA SP110 SLC40A1 ZAP70 ALG2 UGT1A1 IFNGR1 IGF2 IGF2R MMEL1 SEC24C LACC1 PRF1 NEK8 IGHM TTC37 IL21R SETBP1 IQCB1 RBPJ LPIN2 PRKAR1A NKX2-5 SLC13A5 APPL1 PRKCD CTBP1 CAVIN1 CTLA4 PRKCSH IGLL1 CTNS CTNNB1 GFM1 IL1RN IL2RA CTSK IL2RG IL6 NEUROG3 ADAMTSL2 IL7R PROP1 ATPAF2 CYBA CYBB CYC1 COX20 TET2 LDLRAP1 IL12A IL12RB1 PRSS1 PRSS2 IFT140 NDUFS7 PSAP TRAF3IP1 EARS2 CYP7A1 PET100 INS IFT172 CYP19A1 PIEZO1 INPPL1 CYBC1 MRPL44 CYP27A1 KIAA0586 VPS33A INSR PSMB4 TMEM199 PSMB8 PSMB9 PDX1 CD55 SLCO1B3 IRF5 DAXX NHLRC2 MCCC1 PTEN NPHP4 RNF43 PLEKHM1 DDOST ITK MKS1 HELLPAR FBXL4 FAM111B JAK2 JAK3 PTPN3 TRMT10C PTPN11 CEP120 PTPRC ALMS1 MOGS CLPB VPS33B TINF2 PAX8 CCDC47 KCNH1 DGUOK DHCR7 DHFR KCNJ11 TMEM70 PEX19 ABCD3 PEX2 PEX5 MFN2 KCNN4 DKC1 KCNQ1 DLD PYGL ATP11C RBM8A DMD RFT1 RMND1 TMEM231 DMPK CARS2 HYMAI KIT TNFSF15 DNASE1L3 RAB27A NR1H4 JAM3 PCSK9 FERMT3 FOXP3 RAD51 RAD51C RNASEH2B KRAS DPAGT1 RAF1 RAG1 RPGRIP1 RAG2 KRT6A KRT6B EFL1 KRT8 PNPLA2 B3GLCT ITCH KRT16 SRD5A3 LHX4 KRT17 RHBDF2 RASA2 WDR34 KRT18 USB1 GNE LYRM4 DYNC2H1 COG7 PIGS GLIS3 AGGF1 FARSB WDR60 MRPS16 FANCL RELA LHX3 LBR REST LCAT RFC2 WRAP53 TYMP BOLA3 RFX5 RFXAP LDLR JMJD1C WDPCP PALB2 LETM1 RHAG NLRP3 TSFM RFWD3 YARS2 BBS10 CEP55 ESCO2 RIT1 TTC7A SLC17A5 LHX1 RMRP MRPS7 RASGRP1 MLXIPL LIG4 LRPPRC LIMK1 LIPA LIPE ABHD5 IL36RN NDUFAF1 LMNA TRIM28 BBS7 SBDS FANCI IER3IP1 SLC25A13 ALG9 SLC25A15 SAR1B CEP83 TTC21B STEAP3 LRP5 BSCL2 ELN LTBP3 C8ORF37 DCTN4 TANGO2 SPRTN SH2D1A LYZ ENG EPCAM CSPP1 TBL2 CD96 EPB41 EPB42 SMAD4 TCTN2 ALG13
Decreased liver function
Genes 188
NPC1 CYC1 NHLRC1 TACO1 COX20 MPV17 RNU12 UBR1 IL12A TMEM67 USP18 IL12RB1 CACNA1S COG2 SCO2 TCF4 SLC25A20 EPM2A RPGRIP1L ATP7B GALT SPIB ATRX HLA-B OSTM1 USB1 MICOS13 RTEL1 CTC1 GPR35 COG7 MARS PET100 INPP5E IFT172 IARS ACAD9 AMACR FOS HLA-DRB1 POLG PEX3 NDUFAF3 AGPAT2 COX6B1 TMEM199 AKR1D1 LARS SCYL1 FADD GBA PEX1 PEX6 COX8A COX10 FARSB GBE1 PEX10 PORCN PEX12 PEX13 POU2AF1 XIAP PEX14 PTPN22 IRF5 DAXX IKZF1 FASTKD2 CAV1 CCDC115 PPARG ACVRL1 CPT1A PEX11B WRAP53 SLC7A7 CPT2 GDF2 COQ2 NHP2 LARS2 TERC SP110 TERT BCS1L F5 NDUFB8 TFAM COA8 NDUFS2 CEP164 DDOST F13A1 MEFV NDUFS4 F13B RYR1 PEX26 STT3B ADK BLVRA JAK2 MST1 TRMU FAH MRPS7 NBAS HSD3B7 LIPT1 OTC SERPINA1 TRMT10C LIPA GANAB MMEL1 ATP6 ALMS1 MOGS TINF2 SC5D CCDC47 SURF1 TTC37 DGUOK BTNL2 ALG9 JAG1 SLC25A15 MTM1 IL21R ND1 ND2 ND3 ND4 FECH ND5 ND6 VPS13A PEX19 PEX16 ABCD3 PEX2 SCO1 TJP2 PEX5 DKC1 CC2D2A DLD CYP7B1 ALG8 PARN NOP10 CAVIN1 BSCL2 IFT122 HADHA TRNK TRNL1 HADHB HADH UQCRC2 TRNN RMND1 TRNS1 FH OCLN TRNT TRNV TRNW SH2D1A ALDOB GFM1 ENG TALDO1 ALG6 EIF2AK3 SLC30A10 TNFSF15 TNPO3 COG4 PCK1 PCK2 NR1H4 ALG1 SMAD4 COX14 MPI
Elevated hepatic transaminase
Genes 203
CYC1 CFH CDKN2A HFE TMEM67 USP18 TREX1 GLRX5 MYH9 ERCC4 ATP6AP1 ATP7B ACADM ATRX HLA-B MICOS13 TNFSF12 DNAJC19 MARS IFT172 AMACR TMEM165 ACOX1 MRPL44 KIAA0586 PSMB4 TMEM199 AKR1D1 PSMB8 PSMB9 DNAJC21 DPM3 SRP54 PEX13 DHDDS DAXX IKZF1 HMGCL CD46 ATP8B1 GNMT GDF2 HNF4A ADAR ADA2 BCS1L F5 DPM1 DPM2 DDOST PGM1 HELLPAR FBXL4 ABCB4 ADK JAK2 IFIH1 FAH PHKA2 PHKG2 SERPINA1 TRMT10C FBP1 ICOS BRCA1 ALMS1 BRCA2 CLPB VPS33B SC5D COG6 AGL DGUOK JAG1 NFKB1 NFKB2 RNASEH2C VPS13A AHCY PEX19 PEX16 ABCD3 WDR35 C1QBP CC2D2A DLD CYP7B1 PYGL ALAS2 UQCRC2 GNAS DMD HSD17B4 ALDOB ALG6 EIF2AK3 SLC30A10 COG4 NR1H4 SDHD PMM2 FOXP3 HJV GPD1 RNASEH2B KRAS DPAGT1 MPV17 TRAPPC11 COG2 TCF4 HNF1A HNF1B PNPLA2 DCDC2 SLC25A20 KIF23 RPGRIP1L SRD5A3 OFD1 SLC25A4 GNE RNASEH2A GPR35 COG7 INPP5E IARS ACAD9 POLD1 FOS RRM2B POLG AGPAT2 DOLK LARS FARSB TWNK MRPS16 SAMHD1 CAV1 LBR CCDC115 PPARG CPT1A SLC7A7 CPT2 NSMCE2 TYMP CFI CR2 SP110 CBS TFAM PALB2 COG8 RBCK1 YARS2 TFR2 FAN1 MST1 LHX1 TRMU NBAS HSD3B7 LIPT1 VIPAS39 ABHD5 CD19 MS4A1 SBDS ASL IER3IP1 SLC25A13 SLC25A15 GYS2 SAR1B SLC22A5 TNFRSF13C TNFRSF13B STEAP3 PRKCD CD81 CAVIN1 BSCL2 HADHA MRPL3 ATM HADHB NGLY1 HAMP HADH C8ORF37 TANGO2 OCLN POLG2 HBB CSPP1 G6PC SLC37A4 PALLD TP53 MVK SMAD4