SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02947568

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Genetical Background of Non-alcoholic Fatty Liver Disease (NAFLD) in Diabetes Mellitus and in Chronic Kidney Disease

The present study investigates relationship between non-alcoholic fatty liver disease and its risk factors, such as genetic background and diseases, such as chronic kidney disease and diabetes mellitus.

NCT02947568 Non-alcoholic Fatty Liver Disease Chronic Kidney Disease Diabetes Mellitus
MeSH: Diabetes Mellitus Kidney Diseases Renal Insufficiency, Chronic Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease
HPO: Abnormality of the kidney Abnormality of the liver Chronic kidney disease Decreased liver function Diabetes mellitus Elevated hepatic transaminase Hepatic steatosis Nephropathy

1 Interventions

Name: non-interventional study

Type: Other

CKD DM CKD+DM


Primary Outcomes

Description: The association of hepatic steatosis with chronic kidney disease, diabetes mellitus and the the persence of these two will be assessed

Measure: Association of NFS (NAFLD fibrosis score) and HSI (hepatic steatosis index) with underlying conditions

Time: 2 years

Description: The association of hepatic steatosis with genetic factors will be assessed. In case of patatin-like phospholipase domain-containing protein 3 gene (PNPLA3) : rs738409, rs2281135, rs2294918 single nuclear polimorfism (SNP) will be examined

Measure: Association of genetical factors with NFS and HSI

Time: 2 years

Secondary Outcomes

Description: The association of serum creatinine, eGFR, blood urea nitrogen, serum sodium, serum potassium, serum calcium with NFS and HSI will be assessed

Measure: Association of hepatic steatosis with renal function

Time: 2 years

Description: Association of HbA1C, fructosamine, blood glucose, serum insulin, HOMAIR, serum uric acid with NFS and HSI

Measure: Association of glucose metabolism parameters with hepaic steatosis indices

Time: 2 years

Description: Association of serum bilirubine, serum GOT, serum GPT, serum GGT, serum ALP, serum LDH, INR, serum total protein, serum albumin with NFS and HSI

Measure: Association of liver function and hepatic setatosis indices

Time: 2 years

Description: Association of serum total cholesterol, serum HDL-cholesterol, serum LDL-cholesterol, serum triglyceride, serum carnitine with NFS and HSI

Measure: Association of serum lipid profile and hepatic setatosis indices

Time: 2 years

Description: association of serum iron, serum transferrine, serum transferrine saturation, serum ferritine with NFS and HSI

Measure: Association of iron metabolism parameters with hepatic setatosis indices

Time: 2 years

Description: Association of blood count, erythrocyte sedimentation rate, CRP with NFS and HSI

Measure: The relationship between blood count, sedimentation and inflammation with hepatic setatosis indices

Time: 2 years

Description: association of urinary total protein, urinary albumin, urinary total protein/creatinine ratio, urinary albumin/creatinine ratio with NFS and HSI

Measure: Assotion of serum proteins with hepatic setatosis indices

Time: 2 years

Description: Association of serum meta-Tyr, serum ortho-Tyr, urinary meta-Tyr, urinary ortho-Tyr, urinary meta-Tyr/creatinine ratio, urinary ortho-Tyr/creatinine ratio with NFS and HSI

Measure: Association of pathological tyrosine isoforms with hepatic setatosis indices

Time: 2 years

Time Perspective: Cross-Sectional

Case-Only


There are 3 SNPs

SNPs


1 rs2281135

In case of patatin-like phospholipase domain-containing protein 3 gene (PNPLA3) : rs738409, rs2281135, rs2294918 single nuclear polimorfism (SNP) will be examined.


2 rs2294918

In case of patatin-like phospholipase domain-containing protein 3 gene (PNPLA3) : rs738409, rs2281135, rs2294918 single nuclear polimorfism (SNP) will be examined.


3 rs738409

In case of patatin-like phospholipase domain-containing protein 3 gene (PNPLA3) : rs738409, rs2281135, rs2294918 single nuclear polimorfism (SNP) will be examined.



HPO Nodes


HPO:
Abnormality of the kidney
Genes 1011
MKKS TACO1 RPL26 NRIP1 ERBB3 CTU2 SLC29A3 SF3B4 AMER1 BRIP1 ERCC4 ERCC6 NUP85 CWC27 MARS USP9X RBM10 SMC1A MAX ACP5 APC2 TMEM216 ACTB ETFA ETFB SLC6A19 ZFP57 ETFDH CD109 COQ8B NAA10 ACTG1 ACTG2 EVC DHDDS LAGE3 MCM5 IKZF1 ACTN4 CD46 EXT2 RPS26 EYA1 ACVRL1 MDH2 RREB1 ARID1A MDM2 F2 ADA IL17F MECP2 KLRC4 F10 IFT43 MEFV PHF21A RYR1 MAP3K1 TBC1D24 AXIN2 BAP1 MEN1 MEOX1 FANCA FANCC FANCD2 GREB1L FANCE SEMA3A ARL6 ACSL4 FAH TTC8 MET FANCB DACT1 FANCF FANCG SAA1 ARID1B FBN1 DLC1 SALL1 KITLG MBTPS2 SC5D COG6 FKTN YAP1 STRADA HOGA1 JAG1 AGT AGTR1 AGXT NR0B1 MITF GPC4 SCNN1A SCNN1B WDR35 FGA MLH1 SCNN1G SCO1 CC2D2A ANTXR1 KMT2A FGF8 AKT1 FGF10 FGFR1 FGFR3 FGFR2 IFT80 MAD2L2 TP53RK SLITRK6 FH SLC30A9 ALDOB LTBP4 MOCS1 ALOX12B FOXG1 MOCS2 SEC23B SDHA FOXF1 SDHB SDHC ZNF687 SDHD ALPL OPLAH FOXI1 CRTAP FOXC2 FOXE1 FLI1 FLII FLNA FLNB KLF11 DCDC2 FRAS1 FBLN5 CCDC22 DEAF1 FN1 OFD1 OSTM1 CISD2 SFTPC PUF60 FOS PEX3 CEP290 AGPAT2 ARX KCNAB2 BBIP1 APC ITGA8 TMEM138 SHH ELP1 AIRE FUZ NTNG1 SI UQCC2 DGKE APOA1 APOB LIPN MSH2 CHD7 FASTKD2 MSH3 POMT1 TMEM107 STIL APOE OSGEP SIX1 SIX3 FANCM APRT SKI PIGV FAS FASLG CCDC141 TMEM127 AQP2 SLC1A1 AR COA8 ABCC6 CEP164 SLC2A2 PEX26 SLC3A1 SLC4A1 EPG5 SLC5A2 FAN1 CEP63 SDR9C7 WDR19 MST1 ARHGDIA SETD2 VAC14 RAB3GAP1 ARL3 RAB18 PIGT VIPAS39 NPHP3 PIEZO2 STS ATP6 SLC12A1 SLC12A3 COX1 COX2 UBE2T G6PC3 COX3 ARVCF WDR11 FEZF1 SLC34A1 DYNC2LI1 TRIM32 TP63 ND1 ND2 ND3 XPNPEP3 EBP ND4 ND5 ND6 CLDN16 SNAI2 DCHS1 NUP133 B9D1 SMARCA4 RSPO2 SMARCB1 FLCN SMARCC2 SIX5 CDK5RAP2 TRNE SMARCE1 TRNF SMS CEP152 NR5A1 TRNH IFT122 TRNK TRNL1 RERE TRNN ATP1A1 TRNQ MAPKBP1 TRNS1 SLC4A4 TRNS2 OCLN TRNT TRNV FUT8 TRNW SUFU SNRPB FXYD2 MUC1 MCTP2 PRDM16 BBS12 G6PC SLC37A4 TRIM37 SLX4 MMUT H19 AFF4 RAI1 MGME1 INVS SON RAB23 GABRD ADCY10 TRAF3IP2 SOX9 MYD88 SOX10 UBR1 SOX11 ATP6V1B1 DNAJB11 INTU MYH9 MYH11 ANKS6 ATP7A DIS3L2 CENPJ ATP7B WWOX MYLK GALNT3 WDR4 ATRX MYO1E CHST14 MYO5B ERAP1 AVPR2 ZNF423 NADK2 SDCCAG8 DZIP1L B2M KIF1B TMEM126B IQSEC2 SRC GAS1 HDAC8 GATA3 GATA4 GBA BBS1 BBS2 SPART GBE1 CDH23 BBS4 SRP54 NBN SRY CCND1 GCK COL25A1 SSR4 SMOC1 PEX11B SRCAP GDF2 COQ2 ANKLE2 GPKOW ADA2 BCS1L BBS9 NDUFB8 SLC26A1 NDUFS2 HESX1 FREM1 STAT1 FGF17 STAT3 STAT4 STAT5B NUP205 NOD2 BLK LPIN1 IFIH1 CDKL5 STK11 BMP4 NEK1 NEUROD1 STX3 GANAB KISS1R TXNL4A NF1 PNPLA6 STXBP1 GLA GPC3 BRCA1 BRAF BRCA2 MAGED2 SULT2B1 NFIA KLHL7 SGPL1 GLI1 GLI2 GLI3 ABCC8 SURF1 GLIS2 BUB1 BUB1B VAMP7 C1QBP MYMK HYLS1 C1QA C1QB C1QC C3 LIPT2 GNA11 C4A TACR3 BMPER GNAS STRA6 GNB1 FOXH1 TAF13 MAP3K7 NODAL KCNQ1OT1 TALDO1 KYNU NUP160 ABCG5 ABCG8 TBX1 ALG1 NOTCH2 NOTCH3 CA2 GP1BA GP1BB SPINK5 GP9 TBX15 NPHP1 NPHS1 NPM1 CACNA1D CACNA1S IFT27 TCF4 TBX3 NCAPD3 NIPAL4 HNF1A HNF1B SLC25A20 ADAMTSL1 CAD RPGRIP1L NRAS B4GAT1 TCN2 GPR35 ROR2 NUMA1 SOX17 NSD1 BAZ1B CASP10 CASR IL17RC ADAMTS13 RIPK4 TDGF1 LMNB2 OCRL SPECC1L AIP CAV1 BBS5 SLC7A7 SERPINH1 NXN OGG1 CIT TFAP2A DICER1 CLDN10 GSN TFE3 ZFPM2 POLR3A CCND2 SLC7A9 GRIP1 TBX18 B9D2 TGIF1 TGM1 MSH6 USP8 MFSD2A KLLN GTF2I DCLRE1C SMC3 INF2 IL12A-AS1 BTNL2 SCARB2 PPP1R15B PAFAH1B1 TLR4 SLC49A4 PRDX1 PAH FIBP HAAO WDR73 CD151 HABP2 PAX1 PAX2 PAX4 PAX6 SEC63 PBX1 BUB3 KAT6B HBB PC RNF139 CDC42 TNXB DISP1 PCK1 PCK2 TP53 COX14 CDK4 CDK6 LARGE1 PIGY CDKN1B CFH CDKN1C PIGN H19-ICR HGD TMEM67 TREX1 ASXL1 POU6F2 HIC1 PDE6D GCM2 CEL HLA-B MICOS13 MNX1 CENPF PDGFRB LEMD3 HLA-DPA1 HLA-DPB1 ENPP1 HLA-DRB1 SLC26A4 CD2AP CFTR TRPC6 GDF6 COPB2 PEX1 CLEC7A PEX6 PEX7 DNAJC21 PEX10 HMBS SOX18 PEX12 PEX13 PEX14 KCNE5 HPSE2 TSC1 TSC2 CHD4 WNT4 HMOX1 CHN1 HNF4A TRIP13 PGAM2 TRIP11 CHRM3 TTR PGK1 ALX4 PGM3 HNRNPU HIRA RNU4ATAC SNAP29 PHEX ERCC8 HOXA13 COLEC11 PHYH SERPINA1 AP2S1 SLC9A3R1 DMRT3 PIGA CLCN5 CLCNKA GRHPR CLCNKB COG1 HOXD13 PIK3CA ANLN PIK3R2 SHPK DSTYK HS6ST1 HPRT1 RAB3GAP2 RECQL4 HPS1 UFD1 PKD1 PKD2 PEX16 HRAS ASPM PKHD1 UMOD LMOD1 ALG8 UMPS PLAGL1 COL14A1 CCR1 CCR6 PLCD1 IL17RA FLRT3 PLD1 PLEC PLG HSD17B4 PYCR2 SERPINF2 TMCO1 SEC61A1 EIF2AK3 KDM6A NIPBL HSPA9 PML COL1A1 PMM2 VDR COL3A1 COL4A1 POMT2 PROK2 VHL COL4A3 COL4A4 COL4A5 COL5A1 COL5A2 HSPG2 COL7A1 PIGL WAS SLC2A9 COMT WIPF1 TAPT1 ADAMTS3 CLIP2 DLL4 FKRP WFS1 NSD2 NELFA INPP5E IARS WNT3 POLE WNT5A RRM2B SMARCAL1 EFEMP2 LZTFL1 NDUFAF3 COX6B1 WRN WT1 COX8A POR COX10 PORCN XDH POU3F4 MINPP1 SLC34A3 NABP1 PPARG XRCC2 CPT1A XRCC4 CPT2 GABBR2 GTF2IRD1 CFI GDF3 KANK2 CREBBP YWHAE PREPL SHANK3 ZAP70 SH2B1 SLC22A12 MMACHC PPM1B ZIC2 ZIC3 THOC6 IGF2 PPP3CA NSMF KANSL1 SEC24C ZNF592 PRCC NEK8 TTC37 SETBP1 IQCB1 ATP6V0A4 SLC6A20 CEP135 LPIN2 CEP41 GEMIN4 PRKAR1A CYP4F22 APPL1 PRKCD CCN2 CTH CAVIN1 CTLA4 PRKCSH NUP93 CTNS CTNNB1 MAP2K1 IL17RD MAP2K2 FAM20A CEP57 IL2RG IL7R CRB2 PRODH SEMA3E CYB561 PRPS1 IL10 COX20 LDLRAP1 IL12A TCTN3 IFT140 MASP1 DDX59 AHI1 ZBTB16 PRTN3 PLVAP ZNF148 HDAC4 TRAF3IP1 TMEM237 ABCA12 PET100 INS IFT172 CYP24A1 INSL3 CYP27A1 KIAA0586 VPS33A PDX1 ITGA6 PTPN22 IRF5 CFHR5 KCTD1 KEAP1 ITGA2 ITGA2B ITGA3 DCC PTCH1 PTEN BCOR ACE NPHP4 NSUN2 ITGB3 ITGB4 ZEB2 PTH1R MRPS22 PHGDH SLC36A2 MKS1 HELLPAR KIAA0753 FBXL4 TBC1D20 NSDHL BSND LRIG2 TMEM260 MAGI2 FREM2 FAM20C ANOS1 NPHS2 PTPN11 ARL6IP6 SARS2 CEP120 ALMS1 PROKR2 CLPB VPS33B SDHAF2 FIG4 PTPRO WASHC5 FGF20 KCNH1 KCNJ1 KCNJ5 DHCR7 DHCR24 KCNJ10 KCNJ11 TMEM70 ARNT2 DHODH PEX19 PEX2 PEX5 DKC1 KIF14 KCNQ1 ALDH18A1 FIP1L1 PYGM MAFB RBM8A CDC73 AMMECR1 RMND1 DMP1 TMEM231 CPLANE1 DNA2 HYMAI DNASE1L3 IL23R JAM3 WDR62 PCSK9 CDON MOCOS KNL1 RAD21 FOXP3 RAD51 TBX22 RAD51C KRAS RAF1 RAG1 RPGRIP1 DPH1 RAG2 SCO2 AKT3 FAT4 RAP1A PDSS2 RAP1B EVC2 B3GLCT RARA RARB KRT17 MCPH1 WDR34 NUP107 DYNC2H1 COG7 RBBP8 DUSP6 TPRKB KAT6A COQ6 DVL1 DVL3 GLIS3 AGGF1 WDR60 LAMB2 SALL4 FANCL REN DPF2 REST LCAT RET RFC2 DLL1 CCNQ LDHA PQBP1 AAGAB TBL1XR1 LDLR JMJD1C WDPCP PALB2 LETM1 NARS2 NLRP3 EDNRB PHC1 RFWD3 KIF7 BBS10 CEP55 ESCO2 SLC17A5 LHX1 RMRP RASGRP1 MLXIPL LIG4 LIMK1 KMT2D TRNT1 HMGA2 LMNA ADGRG2 SETD5 LMX1B TRIM28 BBS7 VANGL1 CCBE1 SBDS FANCI ARID2 ALG9 ARMC5 SPRY4 CEP83 TTC21B MED25 LRP2 EHMT1 LRP4 SASS6 LRP5 ROBO2 UBAC2 CAMKMT ALOXE3 YY1AP1 BSCL2 ELN CLDN19 C8ORF37 EMP2 LYZ ENG CSPP1 TBL2 CD96 EP300 COQ7 RPL11 SMAD4 TCTN2 PLCE1
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
Chronic kidney disease
Genes 87
WDR19 RAD51C CFH NPHP1 COL4A3 COL4A4 COL4A5 MAGI2 TMEM67 ARHGDIA IFT140 DNAJB11 SAA1 HNF1B DCDC2 NPHS2 AHI1 NPHP3 SARS2 FN1 NUP85 CLCN5 TRAF3IP1 NUP107 MYO1E INF2 ANLN SGPL1 IFT172 DSTYK NEK8 JAG1 SDCCAG8 DZIP1L GLIS2 TMEM126B IQCB1 LZTFL1 CEP290 XPNPEP3 TRPC6 TPRKB AGXT CEP83 CLDN16 PKD2 COQ8B TTC21B GATA3 NUP133 WT1 LAMB2 SOX18 UMOD LAGE3 DGKE ACTN4 CD151 PAX2 REN IFT122 CLDN19 CFHR5 NUP93 OCRL CTNS TP53RK OSGEP MAPKBP1 TMEM231 SLC7A7 APRT ALDOB NPHP4 MUC1 SEC61A1 KYNU NUP160 IFT43 CEP164 SH2B1 MMUT INVS PLCE1 FAN1 NUP205 NOD2
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
Diabetes mellitus
Genes 326
SOX2 MKRN3 SOX3 MKKS SNORD115-1 SPATA7 CDKN2A HFE CERKL UBR1 PRPF31 LRAT PRSS1 TREX1 PRSS2 IFT140 ARL2BP GLRX5 SLC29A3 MAK AHI1 ABCA4 PDE4D ZBTB20 PDE6A PDE6G ZMPSTE24 IMPDH1 CEL STUB1 SPINK1 RTEL1 PDE6B LEMD3 INS HLA-DQB1 GJB4 IFT172 AMACR KIZ CDHR1 HLA-DRB1 CYP19A1 CFTR DHX38 MAFA GAS1 INSR ZFP57 MC4R GATA3 CTRC GATA6 PDX1 IPW PEX1 BBS1 PWRN1 PEX6 BBS2 DNAJC21 PEX10 CDH23 SRP54 DHDDS NDN PRPF6 GCK NDP KCTD1 AGBL5 GPR101 PTCH1 HNF4A ADAR TTPA TUB SNORD116-1 HESX1 STAT1 STAT3 TULP1 BLK BLM ARL6 IFIH1 TTC8 GJA1 PROM1 NEK2 GJB3 SAG FBN1 NEUROD1 SARS2 PNPLA6 BRCA1 ALMS1 BRAF BRCA2 PROKR2 CLCNKB TINF2 KLHL7 REEP6 FAM161A PIK3R1 GLI2 ABCC8 KCNJ11 RNASEH2C ARNT2 NPAP1 SCAPER FSCN2 DCAF17 AHR PRCD DKC1 FGF8 PLAGL1 AKT2 NOP10 FGFR1 PLCD1 GNAS PWAR1 SEMA4A HERC2 MERTK FOXH1 PLIN1 HYMAI NODAL USH2A CLRN1 CNGB1 CNGA1 EIF2AK3 MOG CDON CA4 IMPG2 PDE11A FOXP3 FOXC2 HJV PROK2 RNASEH2B KRAS TCF4 KLF11 EFL1 HNF1A BEST1 HNF1B PNPLA2 NR2E3 MAGEL2 POC1A OFD1 SLC25A4 USB1 NRL CLIP2 APOA5 CISD2 RNASEH2A CTC1 PTF1A WFS1 GPR35 POLD1 FOS RRM2B POLG AGPAT2 RBP3 WRN SLC19A2 HGSNAT GLIS3 SHH AIRE KIAA1549 FUZ BAZ1B RDH12 POMGNT1 PRPH2 ARHGEF18 DNM1L CP TWNK CPA1 CASR PCARE SAMHD1 TDGF1 AIP CAV1 PSTPIP1 FXN APOE IDH3B PPARG RFC2 XRCC4 WRAP53 SIX3 GTF2IRD1 NSMCE2 PRPF8 DLL1 NHP2 TERC TERT EDA RGR SLC7A14 AR LEP OPA1 LEPR PALB2 POLR3A RHO CRB1 ZIC2 MKRN3-AS1 CRX RLBP1 TTC7A PPP1R3A CNBP MST1 ERGIC1 LHX1 TGIF1 USP8 MLXIPL LIG4 LIMK1 EYS ARL3 LIPE OTX2 IGF1R GTF2I HMGA2 ATP6 TRNC SLC12A3 LMNA COX1 COX2 COX3 GUCA1B IFT88 CYTB SLC16A2 PRPF4 PRPF3 ELMO2 PDE8B VANGL1 SBDS EIF2S3 IER3IP1 ZNF408 CIDEC ND1 ARMC5 ND4 ND5 ND6 PRKACA PRKAR1A NKX2-5 APPL1 TRNE TRNF ROM1 ZFYVE26 PARN CAVIN1 BSCL2 TRNH RP9 RP1 ELN TRNK PAX4 RP2 TRNL1 RPGR ATM HAMP CTNS CTNNB1 C8ORF37 TRNQ TRNS1 TRNS2 POLG2 TRNV TOPORS TRNW KDSR HBB SUFU IL2RA RPE65 DNAJC3 SNRNP200 SNRPN PALLD TBL2 DISP1 EDA2R NEUROG3 TP53 CEP19 SMAD4 PCNT ZNF513
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
Hepatic steatosis
Genes 102
GABRD GPD1 HFE MPV17 LDLRAP1 TRAPPC11 HNF1B PNPLA2 ATP6AP1 ATP7B ZMPSTE24 ACADL ACADM ACADVL EARS2 LYRM4 DNAJC19 CYP7A1 MARS IARS ACAD9 POLD1 FOS ACOX1 RRM2B CYP19A1 POLG MRPL44 VPS33A AGPAT2 ETFA ETFB TMEM199 ETFDH LARS KCNAB2 FARSB COX15 APOB LMNB2 CAV1 MCCC1 APOE PPARG CPT1A XRCC4 TARS2 CPT2 SKI NSMCE2 TYMP HNF4A BCS1L HNRNPA1 CBS TFAM HNRNPA2B1 LDLR SLC40A1 COA8 DDOST PGM1 POLR3A ADK TRMU MRPS7 LRPPRC LIPA LIPE ABHD5 FBP1 NDUFAF1 LMNA ALMS1 CLPB COG6 DGUOK CIDEC SLC25A13 SAR1B SLC22A5 AKT2 CAVIN1 BSCL2 HADHA HADHB RERE HADH RMND1 HSD17B4 PLIN1 CARS2 ALDOB PRDM16 ABCG5 PCK1 ABCG8 PCK2 VCP PCSK9 CEP19 PMM2
Nephropathy
Genes 94
WDR19 BLK COL4A1 NPHP1 TMEM67 TREX1 KLF11 COL7A1 IFT140 HNF1A SAA1 HIC1 MYH9 VIPAS39 NEUROD1 RPGRIP1L CEP120 GLA WAS CEL WIPF1 WDR4 WDR34 NUP107 VPS33B TMEM237 CISD2 DYNC2LI1 LMX1B DYNC2H1 WFS1 INS INPP5E IFT172 FOS ABCC8 ZNF423 SLC26A4 SCARB2 KCNJ10 B2M KCNJ11 PAFAH1B1 CEP290 TPRKB TMEM216 AGPAT2 PRDX1 TTC21B SCNN1A SCNN1B NUP133 WT1 FGA PDX1 TMEM138 SCNN1G WDR60 CC2D2A UMOD APPL1 LAGE3 APOA1 MAFB WDR73 CD151 CCND1 CAVIN1 BSCL2 GCK PAX4 CLDN19 IFT80 PAX6 CAV1 TP53RK PPARG OSGEP TMEM231 HNF4A LYZ FAM20A SEC61A1 ADA2 EIF2AK3 YWHAE TTR MEFV ALG1 NLRP3 MMACHC PRODH FOXI1 NOD2