SNPMiner Trials: Mutation Report
Report for Mutation I349V
Developed by Shray Alag, 2019.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
Moderate alcohol consumption is associated with a decreased risk of cardiovascular disease
and type 2 diabetes. The association of alcohol consumption with cardiovascular disease is
mediated by a functional polymorphism of alcohol dehydrogenase 1c, but the effect of this
polymorphism on alcohol metabolism is only investigated in vitro.
The risk reduction of moderate alcohol consumption for cardiovascular disease is explained
largely by an increase of HDL cholesterol, but an increase of adiponectin concentrations
after moderate alcohol consumption may also be involved. It seems likely that adiponectin is
a mediator for the association of moderate alcohol consumption with type 2 diabetes. The
mechanism by which moderate alcohol consumption increases adiponectin concentrations is
unknown, but ppar-gamma activation may be involved.
effects of this polymorphism on mediators of this relation are not known. This study
therefore investigates the effect of moderate alcohol consumption and the influence of
alcohol dehydrogenase 1c polymorphism on ppar-gamma activated gene expression and risk
factors of cardiovascular disease and type 2 diabetes.
Inclusion Criteria:
- Healthy women aged 40 to 65 years
- Absence of menstrual period for at least 2 years
- Homozygotes for the ADH1C*1 or ADH1C*2 allele of ADH1C I349V polymorphism
- Alcohol consumption ≥ 5 and ≤ 21 units/week
Exclusion Criteria:
- Smoking
- Family history of alcoholism
- History of medical or surgical events that may significantly affect the study outcome,
particularly metabolic or endocrine disorders and gastrointestinal disorders
- Recent blood donation
Inclusion Criteria:
- Healthy women aged 40 to 65 years
- Absence of menstrual period for at least 2 years
- Homozygotes for the ADH1C*1 or ADH1C*2 allele of ADH1C I349V polymorphism
- Alcohol consumption ≥ 5 and ≤ 21 units/week
Exclusion Criteria:
- Smoking
- Family history of alcoholism
- History of medical or surgical events that may significantly affect the study outcome,
particularly metabolic or endocrine disorders and gastrointestinal disorders
- Recent blood donation
Cardiovascular Disease
Type 2 Diabetes
Diabetes Mellitus, Type 2
Cardiovascular Diseases
Alcohol Drinking
Objectives :
To investigate the effect of moderate alcohol consumption and influence of genetic variation
of ethanol oxidation on:
- PPAR-γ activated gene expression
- Markers of coronary heart disease or type 2 diabetes
- Postprandial changes of HPA-axis activity among 36 postmenopausal women with ADH1C
genotype associated with slow or fast alcohol metabolism. --- I349V ---
Inclusion Criteria:
- Healthy women aged 40 to 65 years
- Absence of menstrual period for at least 2 years
- Homozygotes for the ADH1C*1 or ADH1C*2 allele of ADH1C I349V polymorphism
- Alcohol consumption ≥ 5 and ≤ 21 units/week
Exclusion Criteria:
- Smoking
- Family history of alcoholism
- History of medical or surgical events that may significantly affect the study outcome,
particularly metabolic or endocrine disorders and gastrointestinal disorders
- Recent blood donation
Inclusion Criteria:
- Healthy women aged 40 to 65 years
- Absence of menstrual period for at least 2 years
- Homozygotes for the ADH1C*1 or ADH1C*2 allele of ADH1C I349V polymorphism
- Alcohol consumption ≥ 5 and ≤ 21 units/week
Exclusion Criteria:
- Smoking
- Family history of alcoholism
- History of medical or surgical events that may significantly affect the study outcome,
particularly metabolic or endocrine disorders and gastrointestinal disorders
- Recent blood donation
Cardiovascular Disease
Type 2 Diabetes
Diabetes Mellitus, Type 2
Cardiovascular Diseases
Alcohol Drinking
Objectives :
To investigate the effect of moderate alcohol consumption and influence of genetic variation
of ethanol oxidation on:
- PPAR-γ activated gene expression
- Markers of coronary heart disease or type 2 diabetes
- Postprandial changes of HPA-axis activity among 36 postmenopausal women with ADH1C
genotype associated with slow or fast alcohol metabolism. --- I349V --- --- I349V ---
Primary Outcomes
Measure: PPAR-gamma activated gene expression
Secondary Outcomes
Measure: Risk factors of cardiovascular disease and type 2 diabetes
Measure: Postprandial changes of HPA-axis activity
HPO Nodes
Genes 2040
MKKS TSR2 CTU2 ABCA1 ABCA3 MAK DGCR6 AMER1 ABCA4 LZTR1 ABL1 ESS2 MAN2B1 MANBA ACADL ACADS AICDA MAP1B ACADVL ACAT1 MAPT DNAJC19 USP9X MAT2A RBM10 SMC1A MAX ACP5 ACTA1 ACTA2 ACTB MC1R CD109 MC2R MC4R SCYL1 NAA10 ACTC1 ACTG1 ACTG2 MMP21 MCM4 ACTN4 TRAC CD46 ACTN2 TMEM173 ACVR2B ACVRL1 MDH2 ARID1A SGO1 ADA COLQ ADAR MECP2 KLRC4 ADCY5 MEFV MEIS2 MAP3K1 TBC1D24 BAP1 MEN1 CDC45 MEOX1 FZD4 ADK GFI1B TTC8 ARID1B MGAT2 OTULIN SFTPA2 KITLG MGMT MGP AARS2 AEBP1 COG6 ARHGAP31 AGA AGL JAG1 AGT AGTR1 MID1 MIF AGXT MIPEP ARL13B NR0B1 MIB1 MITF AHCY ALPK3 WDR35 AHR MLH1 CC2D2A KMT2A AK2 AKT1 AKT2 NR3C2 ALAS2 ALB IFT80 MMP1 ALDH3A2 ALDOA DOCK6 ALDOB LTBP4 ALOX12B MOG ZNF687 ALPL MPI MPL ALX3 CUL3 MRE11 BIN1 CCDC22 ANK1 ANK2 OFD1 OSTM1 SLC25A4 ACAD9 IFT81 UVSSA PEX3 KCNAB2 APC ITGA8 IKBKG ELP1 AIRE KIAA1549 BIRC3 RNF213 XIAP APOA1 APOB LIPN MSH2 APOC2 APOE APP FANCM AP3B1 FAS FASLG AQP2 AQP5 SLC7A14 TCAP CDK10 ABCC6 RBM20 ARCN1 ARF1 EPG5 CASK MTFMT WDR19 MST1 SETD2 ARL3 NDUFAF4 TNFSF11 ARSA ARSB MTAP ATP6 ATP8 TRNC COX1 COX2 UBE2T COX3 ARVCF CYTB FEZF1 RANGRF ASAH1 MTHFR ASCL1 CDK13 PDE8B TP63 MTM1 ND1 ND2 ND3 ND4 ND4L ND5 ASS1 ND6 CTNNA3 DCHS1 PTCH2 ANKRD11 GATAD1 RSPO2 ABCB11 FLCN DDRGK1 TRNE SERPINC1 TRNF TRNH TRNK ATIC TRNL1 ATM HAMP RERE TRNN TRNQ TRNS1 TRNS2 RNASEH1 TRNT TRNV TRNW STX16 STX11 MUC1 TRIM37 ATP5F1A MMUT H19 MVK DNAH11 MYBPC3 ATP5F1D MYC ATP5F1E MYCN MYD88 UBR1 MYF6 ATP6V1A ATP6V1B2 MYH6 ATP6V1E1 MYH7 MYH8 MYH9 MYH11 EED ATP6AP1 MYL2 ATP7A MYL3 MYL4 ATP7B MYLK ATR ATRX MYO5B TNFSF12 AVPR2 MYOC GJB4 B2M PKD1L1 NAGA NAGLU FADD BBS1 BBS2 BBS4 FGFRL1 UNC13D NCF2 NCF4 CCND1 BCL2 NDP SLC25A26 NDUFA2 TNFRSF11A NDUFA4 BCL6 PEX11B NEB NDUFA9 NDUFA10 BCR BCS1L NDUFB8 DPM1 BANF1 NDUFS1 NDUFS2 NDUFS3 NDUFV1 HESX1 NDUFS4 FGF17 NDUFS8 BGN NDUFV2 BLM DNAAF3 BMP2 PROM1 NEK1 NEK2 BMPR1A BMPR2 NEU1 DST NF1 BPGM BRCA1 TMTC3 BRAF BRCA2 NF2 NFIA NFE2L2 BTD NFIX NFKB1 BTK NFKB2 BUB1 CYP26C1 BUB1B SCAPER C1QBP SERPING1 LRRC56 MYMK C1R C1S C2 CACNA1H C4A BCL10 CAPN5 NME1 FOXH1 PHOX2B BRAT1 NODAL MYRF NONO KYNU AP3D1 CFAP410 NOTCH1 NOTCH2 NOTCH3 CA2 CA4 PNP NPC1 NPHP1 NPM1 CACNA1B CACNA1C CACNA1D CACNA1S CACNA2D1 NPPA CACNB2 SLC25A20 PLOD3 NRAS CALM1 CALM2 NRL CALM3 CALR NT5E NTRK1 TAF1A ROR2 NUMA1 BAZ1B CASP8 OAS1 CASP10 CRPPA SEMA5A CASQ2 CASR RIPK4 AIP CAV1 CAV3 PSTPIP1 RUNX1 SLC7A7 SERPINA6 CBL CBS OPA1 CLDN1 TNFRSF11B KRIT1 CCND2 SIX6 TBX19 TBX18 USP8 FCGR2C OTC KLLN OTX2 DPP9 CD19 MS4A1 SMC3 PRPF4 P2RY11 PRPF3 CD27 CD28 SCARB2 PAFAH1B1 DYRK1B PAH CD40 CD40LG TNFRSF13C FIBP CD70 CD79A CD79B CD81 PARN PAX3 PAX6 LRBA PBX1 BUB3 DNAAF1 CDC42 PCCA PCCB HACD1 PCNA CDK4 PCNT XPR1 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDKN2D H19-ICR SDHAF1 TMEM67 LRAT CDSN PDE3A PDE6A PDE6C PDE6D CRLF1 PDE6G PDE6H PDGFB PDGFRA PDE6B CENPF PDGFRB PDHA1 SCARF2 ENPP1 CFTR GDAP1 PEPD BLNK PEX1 PEX6 PEX7 DPM3 PEX10 SOX18 PEX12 PEX13 PEX14 CHD4 ATP8B1 WNT4 CHKB CHN1 TRIP13 TRIP11 LYST CHRM3 TRIP4 CHRNA1 TERF2IP CHRNA7 NLRC4 PGM1 TGM5 SLC39A13 PGM3 CHRND CHRNG RNU4ATAC ABCB4 SNAP29 EFTUD2 SLC25A3 ERCC8 CRELD1 PHKG2 PHYH LONP1 AP1S1 ICOS DMRT3 CLCN2 PIGA CLCN7 NRXN1 CLCNKB PIK3C2A CLIC2 PIK3CA PIK3CD PIK3R1 PIK3R2 CLN3 HS6ST1 RIN2 RAB3GAP2 RECQL4 A2ML1 PITX2 PITX3 PKD1 SNX10 PKD2 CIZ1 PEX16 PKLR FSCN2 PKHD1 PKP1 TJP2 PKP2 LMOD1 CYP7B1 ALG8 PLAGL1 CCR1 PLAU CCR6 PLCB4 DGCR8 PLCG2 PLD1 PLEC PLG MTO1 FTO SERPINF2 PLIN1 TMCO1 GMPPB PLN GMPPA PLOD1 SEC61A1 CNGB1 PLP1 CNGA1 EIF2AK3 ADAMTSL4 NIPBL CCDC151 CNGA3 ALG12 COG4 DSE PML CHST3 COL1A1 PMM2 COL1A2 COL2A1 HJV COL3A1 COL4A1 POMT2 PMS1 COL4A2 COL4A3 SLC25A24 COL4A4 COL4A5 COL5A1 COL5A2 COL6A1 NDUFB11 COL6A2 COL6A3 COL7A1 PIGL PSAT1 PMS2 PRRX1 COL11A1 KIF23 COL11A2 TBX4 MYOT NDUFAF5 POLR1A COMT TAPT1 ADAMTS3 ADAMTS2 DLL4 FKRP POLD1 POLE RRM2B POLG SMARCAL1 POLH GNPTAB EFEMP2 POT1 LZTFL1 NDUFAF3 BAG3 COX6B1 POLR1C COX7B COX8A POR COX10 POU1F1 POU2AF1 COX15 CP POU3F4 SAMHD1 TMEM43 GATA5 SIN3A CPN1 MINPP1 CPOX PPARG CPS1 CPT1A CPT2 GTF2IRD1 CR2 CTSA GDF3 CREBBP SLC40A1 SH2B1 CRKL PPOX PPP1CB DNAH1 THOC6 CRX CRYAB PPP2CA MMEL1 NSMF GNA14 CSF2RA KANSL1 NUP155 CSF2RB SEC24C ISG15 LACC1 PRF1 CSNK2A1 NEK8 TTC37 SETBP1 IQCB1 CNGB3 PRKACA CST3 LPIN2 PRKACG CEP41 CSTA MPLKIP PRKAR1A KBTBD13 NKX2-5 GIGYF2 PRKCD CTBP1 CCN2 CAVIN1 CTLA4 PRKCSH PRKG1 CTNS MAPK1 CTNNB1 CTNND2 CTSB MAP2K1 IL17RD MAP2K2 CEP57 CTSH NEXN CTSK NEUROG3 PRNP ADAMTSL2 PROC PROP1 SEMA3E PROS1 ATPAF2 CYB561 CYBA CYBB CEP104 CYLD COX20 TET2 LDLRAP1 PRPF31 TCTN3 TRPM4 IFT140 NLRP12 MASP1 DDX59 HTRA1 AHI1 NDUFS7 SAMD9 PRTN3 PLVAP PSAP DCAF8 HDAC4 PSEN1 PSEN2 TRAF3IP1 ABCA12 TMEM94 CYP7A1 PET100 CYP11A1 CYP11B1 IFT172 CYP11B2 CYP17A1 PIEZO1 CYP21A2 CYBC1 CYP24A1 CYP27A1 DHX38 KIAA0586 PSMB4 PTDSS1 PSMB8 PSMB9 CD55 PTPN22 DAXX TTC25 DBH PSMD12 NHLRC2 KCTD1 DNAL1 CUL7 DCC GPR101 PTCH1 PTEN BCOR ACE DCTN1 NSUN2 NEK9 DDB2 DDC PTGIS GINS1 ZEB2 PTH1R PLEKHM1 PHGDH B3GAT3 MKS1 HELLPAR KIAA0753 FBXL4 NSDHL DDX11 LRIG2 TMEM260 DNAAF5 KLHL3 DES FREM2 TRMT10C CCM2 PTPN11 PTPN14 SARS2 CEP120 PTPRC RNF125 HIBCH PROKR2 VPS33B TINF2 SDHAF2 CANT1 SACS FIG4 WASHC5 FGF20 DGUOK DHCR7 DHCR24 TMEM70 ARNT2 DHODH PEX19 ABCD3 ABCD4 PEX2 PEX5 PYCR1 DKC1 ALDH18A1 DLD PYGM MAFB RBM8A DLEC1 CDC73 DMD RFT1 SLC52A2 AMMECR1 SARDH RMND1 TMEM231 DMPK DNAH5 DNAH9 TNFSF15 MED12 DNASE1L3 RAB27A TCTN1 IL23R PCSK9 CDON DNM2 FKBP14 IMPG2 FERMT3 DNMT3A PDE11A CCDC40 RAD21 FOXP3 RAD51 TBX22 RAD51C RNASEH2B RAF1 KCNE2 RAG1 DGCR2 DPH1 RAG2 SCO2 RANBP2 AKT3 FAT4 NR2E3 RAP1A SLC26A3 RAP1B EVC2 B3GLCT ITCH KCNE3 RARA RARB SRD5A3 DSC2 RASA1 RHBDF2 RASA2 SH2B3 USB1 GNE DSG1 HCN4 DSG2 RB1 NDUFAF2 DSP DYNC2H1 SLC26A2 COG7 RBBP8 DNAAF4 DTNA DUSP6 RBP3 RBP4 DVL1 ASCC1 DVL3 GLIS3 AGGF1 RDH5 FARSB RDH12 WDR60 PRPH2 ABCB6 ABCC9 MRPS16 FANCL PAM16 REN DPF2 ANO10 ARMC4 REST RET COLGALT1 RFC2 WRAP53 ECE1 GPC6 CCNQ PQBP1 ECHS1 PPCS TBL1XR1 EDA RGR ARPC1B WDPCP PALB2 EDN1 EDN3 EDNRA RHAG EDNRB TSFM RFWD3 RHO YARS2 KIF7 BBS10 CEP55 ESCO2 RIT1 RLBP1 DNAAF2 NDUFA13 SLC17A5 RMRP SNIP1 POLR1D RASGRP1 MLXIPL TNNI3K ANGPTL6 EYS TRNT1 ABHD5 IL36RN AKAP9 NDUFAF1 FAM13A RNF6 MEGF8 EGFR SUGCT SETD5 ZDHHC9 ATAD3A TRIM28 BBS7 COQ4 ATP6AP2 SBDS FANCI ZNF408 ALG9 ARMC5 HPS6 RLIM EIF4G1 EHMT1 CHCHD2 ELANE STEAP3 UBAC2 ROM1 ALOXE3 YY1AP1 RORC BSCL2 RP9 ASXL2 RP1 EIF2AK4 ELN RP2 RPGR GREM1 EMD C8ORF37 TANGO2 TOPORS ENG PRG4 RPE65 CSPP1 RPL5 TBL2 CD96 EP300 VPS13B EPB41 COQ7 EPB42 RPL10 RPL11 RPL15 TCTN2 RPL18 EPHB4 TACO1 GP6 RPL26 RPL27 ERBB3 GLRX5 CCDC8 SLC29A3 ERCC2 RPL35A SF3B4 EYA4 ERCC3 BRIP1 ERCC4 ERCC5 IRX5 ERCC6 RNF168 ERF ZMPSTE24 CWC27 CCDC174 CDHR1 SPEG ESR1 TRAIP RPS6KA3 NCF1 APC2 RPS7 TMEM216 RPS10 LRRK2 KIAA0319L ZFP57 RPS15A ETV6 TCIRG1 EVC RPS17 DHDDS RPS19 IKZF1 RPS20 EWSR1 EXT1 KLHL41 EXT2 RPS24 RPS26 RPS27 RPS28 RPS29 RRAS DTNBP1 RREB1 ADGRE2 EZH2 F2 RS1 TRDN F5 IL17F F7 F8 F9 F10 F11 WARS2 F12 IFT43 F13A1 PHF21A F13B RYR1 RYR2 STN1 FANCA FANCC FANCD2 GREB1L CITED2 FANCE SEMA3A ARL6 ACSL4 FAH BPTF FANCB DACT1 FANCF FANCG SAA1 SAMD9L SAG FBN1 FBN2 FBP1 SALL1 MBTPS2 ZMYND10 SC5D FKTN ATXN7 POMP FAM161A STRADA SCN1B SCN2B RNASEH2C SCN4A SCN4B FECH SCN5A COA5 GPC4 SCN9A SCN10A SCNN1A SCNN1B DCAF17 FGA KIAA1109 FGB EMG1 SCNN1G FGD1 PRCD SCO1 ANTXR1 SFTPA1 FGF8 NOP10 FGFR1 FGFR3 FGFR2 FGG MAD2L2 MERTK PRKAG2 FH PIBF1 FHL1 FHL2 POMK SLC30A10 SEC23B SEC23A SDHA FOXF1 SDHB SDHC FOXC1 SDHD CRTAP FOXE3 FOXC2 FOXE1 TRAF7 TMEM126A FLI1 FLII FLNA COG2 FLNB FLNC DCDC2 FRAS1 FLT4 FBLN5 FOXRED1 CIB1 FMO3 DEAF1 FMR1 FN1 NEBL CISD2 RNASEH2A SFTPB SFTPC CTC1 PTF1A SGCA PUF60 SGCB SGCD SGCG SGSH FOS CEP290 AGPAT2 RNF135 ARX FERMT1 DOLK SLC35A1 TUBB SLC19A2 BBIP1 ARFGEF2 TMEM138 ANKRD26 SHH FUZ POMGNT1 NLRP1 SLC39A4 NPC2 ARMC9 CHD7 FASTKD2 POMT1 TMEM107 TXNRD2 FXN CCDC115 SIM1 OSGEP SIX3 SKI PRPF8 PIGV NHP2 CCDC141 TMEM127 ZNF365 COA8 TDP2 SLC2A1 CEP164 HPS3 PEX26 RBCK1 STAMBP SLC4A1 FAN1 LIMS2 TPK1 TRMU NBAS PACS1 DNAI1 ATF6 HSD3B7 LIPT1 VAC14 PIGT MLH3 VIPAS39 NPHP3 PIEZO2 ATP2C1 ACAD8 GPIHBP1 FAM111A SLC12A1 SLC12A3 FRA16E LAT G6PC3 KLF1 KLF13 WDR11 CTCF DYNC2LI1 TRIM32 SLC18A2 ELMO2 SLC20A2 OTUD6B SLCO2A1 FRG1 FLAD1 ANKRD1 SLC22A5 GNB5 VPS35 XPNPEP3 EBP DLL3 NAXD MRPS14 PPA2 FSHR SNAI2 SMARCA2 B9D1 SMARCA4 SMARCB1 AGK WNT10A SMARCC2 SMARCE1 FOXP1 SMN1 FTL CARD11 NDUFAF6 SMPD1 MESP2 NR5A1 IFT122 FUCA1 NGLY1 SNCA OCLN FUT8 KDSR SUFU ERMARD SNRPB FZD2 MCTP2 PRDM16 BBS12 G6PC G6PD SNRNP200 SLC37A4 PALLD STAG2 SNTA1 SLX4 GAA AFF4 RAI1 SCN3B MGME1 INVS SON GABRA3 SP7 SOS1 SOS2 SOX2 SOX3 RAB23 GABRD SPATA7 SOX5 TRAF3IP2 SOX9 SOX10 CERKL SOX11 KDM5B DNAJB11 INTU SPAG1 ANKS6 GALE SPARC EOGT SETX DIS3L2 GALNS WWOX GALNT3 SPIB CHST14 RTEL1 ERAP1 C15ORF41 KIZ ZNF423 GJB6 SPTA1 SDCCAG8 SPTB KIF1B TMEM126B IQSEC2 GAS1 HDAC8 AKR1D1 GATA1 CPLX1 MAP3K20 GATA2 GATA3 GATA4 MYOZ2 GATA6 GBA GBE1 CDH23 SRP54 TAB2 GCDH SRY GCH1 NKX2-6 GCK POGZ MCCC2 COL25A1 SSR4 GNPTG SMOC1 SRCAP C12ORF57 SLFN14 GDF1 GDF2 COQ2 ADA2 BBS9 GDNF NFU1 GFI1 STAR NAGS STAT1 GGCX STAT3 STAT4 STAT5B NOD2 SLC52A3 ELOVL4 STIM1 XYLT1 GPD1L XYLT2 STK4 IFIH1 GJA1 CDAN1 STK11 MALT1 GJA5 GJA8 GJB2 ZNF469 GJB3 STX3 GANAB KISS1R TXNL4A PNPLA6 GLA STXBP2 GPC3 NDUFA12 GLB1 PMPCA SULT2B1 KLHL7 REEP6 GLI1 GLI2 GLI3 ABCC8 SURF1 NBEAL2 SUMF1 MYPN SYNE2 HES7 CFC1 VAMP7 VPS13A GLUL SMG9 HYLS1 GM2A PACS2 GNA11 KIAA0556 TRPV3 ATP11A GNAI2 ADAM17 GNAI3 TACR3 GNAQ TAF2 GNAS SEMA4A COX4I2 GNAT2 STRA6 MYO18B GTPBP3 MAP3K7 MAPRE2 KCNQ1OT1 TALDO1 GNS ABCG5 PIGO ABCG8 TBX1 ALG1 TAZ GP1BA GP1BB SPINK5 TBX2 TBX5 GP9 TBX6 GPD1 TBXAS1 GPI MARS2 LIAS IFT27 TCF4 TBX3 HNF1A TCF3 ADAMTSL1 DNAJC13 RPGRIP1L NEDD4L MLX HTRA2 TCOF1 GPR35 SYNE1 SMCHD1 GPX4 HGSNAT SLC19A3 OBSL1 NSD1 LMBR1 ARHGEF18 MUC5B IL17RC TDGF1 SPECC1L BBS5 SIK3 NR3C1 MED13L NSMCE3 TEK MPIG6B ADNP PRDM5 LARS2 TERC TERT NXN TF TFAP2A TFAP2B NR2F2 GSN ZFPM2 POLR3A MLYCD CRB1 TFR2 TFRC TGFB1 GRIP1 TGFB2 TGFB3 HAVCR2 TGFBR1 TGFBR2 B9D2 TGFBR3 TGIF1 MSH6 COL18A1 BVES ORAI1 GTF2E2 SH3PXD2B LDB3 GTF2I THPO SF3B1 GUCA1B MTMR14 DCLRE1C GUCY1A1 NKX2-1 IL12A-AS1 TK2 GUSB TKT GYG1 ETHE1 GYPC BTNL2 TLL1 GYS1 PPP1R15B MRAP ISCU TGDS TLR4 DNAI2 CKAP2L LRRC8A TNFRSF13B TMPO HAAO HABP2 HSD17B10 HADHA MRPL3 RPL35 HADHB SUZ12 HADH KCNJ18 TNFRSF1A TNFRSF1B TNNC1 SEC63 HBA1 HBA2 POLG2 TNNI3 HPS5 KAT6B HBB PDCD10 TNNT2 HBG1 HBG2 CLCF1 NNT CFAP53 HCCS TNXB SERPIND1 TNPO3 PRDM6 DISP1 EDA2R HCRT TOP3A TP53 CEP19 ATP6V0A2 COX14 PIGM TPI1 TPM1 HEXA PIGY TPM2 HEXB TPM3 CFH PIGN HFE TPP2 HGD USP18 TREX1 ASXL1 SCN11A ARL2BP POU6F2 HIC1 B4GALT7 CFAP300 HK1 HLA-A HLA-B DDX58 MICOS13 MNX1 PDSS1 LEMD3 HLA-DPA1 ATOH7 HLA-DPB1 HLA-DQB1 VPS45 CCDC114 HLA-DRB1 CD2AP TRPC6 TMC6 GDF6 TRPS1 HLCS CLEC7A DNAJC21 HMBS KCNE5 HPSE2 ANO5 TSC1 TSC2 HMGCL TSHR LRRC6 TECRL TSPYL1 AGBL5 HNF4A TTN HNRNPA1 TTPA TUB TTR HNRNPA2B1 ELAC2 ALX4 TULP1 HNRNPU HIRA TWIST1 TNFSF4 TNFRSF4 HOXA1 SLC2A10 HOXA11 HOXA13 HOXD13 UBE3A HPGD SHPK UCP2 HPS1 UFD1 HRAS AIPL1 GTF2H5 UMPS UNG HSD3B2 IL17RA FLRT3 HSD11B2 UROS USH2A CLRN1 KDM6A D2HGDH HSPA9 VCL VCP IGSF3 VEGFC PROK2 VHL HSPG2 TRAPPC11 BEST1 VWF WAS CCDC103 WIPF1 NMNAT1 CLIP2 P2RY12 WFS1 WHCR NSD2 NELFA INPP5E WNT3 WNT5A WRN IRF8 WT1 PORCN TWNK XK XPA XPC DUX4 IDH1 IDH2 NABP1 IDH3B XRCC2 XRCC4 IDS IDUA NSMCE2 CFI SP110 CFAP298 YWHAE SHANK3 ZAP70 NDUFA11 ZIC2 ZIC3 IFNG IFNGR1 CNBP IGBP1 BCL11B IGF1R IGF2 IGFBP7 IGH IGHM RBPJ BLOC1S3 IGLL1 SELENOI IL1RN IL2RA IL2RG IL6 IL7 IL7R CRB2 ZNF513 IL10 IL10RA IL12A IL12B IL12RB1 ZBTB16 ZNF148 IMPDH1 ACD TMEM237 INHBA INS RIPPLY2 INPPL1 MRPL44 RNF113A VPS33A PDX1 IRF5 PRPF6 UPF3B ITGA2 ITGA2B MCCC1 ITGA3 ITGA7 WNK1 NPHP4 ITGB3 MRPS22 ITK ITPA ITPR1 IVD JAK2 JAK3 JUP ANOS1 COA6 ARL6IP6 ANTXR2 KCNA5 ALMS1 CLPB KCND3 KCNE1 PAX8 CCDC47 KCNH1 CXCR4 KCNH2 KCNJ1 KCNJ2 KCNJ5 KCNJ8 HPS4 KCNJ11 COQ9 SLMAP TMC8 KCNK3 KCNN4 KCNQ1 KCNQ2 FIP1L1 KDR KIF5A TBX20 CPLANE1 HYMAI KIT WNK4 KIF11 KRAS KRT1 RPGRIP1 KRT2 KRT5 KRT8 PNPLA2 KRT9 CYSLTR2 KRT10 PDSS2 KRT14 KRT16 LHX4 WDR34 NUP107 KRT18 DOCK8 KRT83 PIGS UBE3B KAT6A SLURP1 LAMA2 LAMA3 LAMA4 JPH2 LAMB2 B3GALT6 LAMB3 GJC2 LAMC2 PCARE SALL4 LAMP2 RPSA LBR LCAT DLL1 SHOC2 SELENON BOLA3 LDLR JMJD1C LEP CCDC39 CSRP3 LEPR LETM1 LFNG NLRP3 TTC7A ADAMTS10 ERGIC1 LIFR FGF23 MFAP5 LIG4 LIMK1 LIPA KMT2D LIPC AAAS HMGA2 ALX1 LMNA LMNB1 IFT88 LMX1B LOR VANGL1 CCBE1 LOX ARID2 LPL SPRY4 MED25 LRP1 LRP2 LRP5 PIH1D3 DSG4 LTBP2 LTBP3 SH2D1A LYZ EPCAM SMAD3 SMAD4 SMAD6 SMAD9 MAF Genes 152
MKRN3 SNORD115-1 SPATA7 CERKL PRPF31 LRAT KLF11 IFT140 HNF1A BEST1 HNF1B ARL2BP NR2E3 GLRX5 MAK AHI1 MAGEL2 ABCA4 PDE6A PDE6G IMPDH1 OFD1 STUB1 SPINK1 NRL CLIP2 PDE6B IFT172 AMACR KIZ CDHR1 CYP19A1 DHX38 INSR RBP3 WRN MC4R HGSNAT PDX1 IPW KIAA1549 PWRN1 BBS2 BAZ1B PEX10 RDH12 POMGNT1 PRPH2 DHDDS ARHGEF18 PCARE NDN PRPF6 GCK IDH3B AGBL5 RFC2 XRCC4 GTF2IRD1 PRPF8 RGR TUB SLC7A14 AR SNORD116-1 TULP1 POLR3A RHO CRB1 MKRN3-AS1 CRX BLM RLBP1 PPP1R3A ARL6 TTC8 PROM1 LIG4 NEK2 LIMK1 EYS ARL3 SAG FBN1 GTF2I PNPLA6 SLC12A3 LMNA COX1 ALMS1 BRAF COX2 COX3 GUCA1B CLCNKB IFT88 KLHL7 PRPF4 PRPF3 REEP6 FAM161A ABCC8 ZNF408 ND1 ND4 ND5 ND6 NPAP1 SCAPER FSCN2 AHR PRCD TRNE TRNF ROM1 AKT2 TRNH RP9 PLCD1 RP1 ELN TRNK PAX4 RP2 TRNL1 RPGR ATM PWAR1 SEMA4A CTNNB1 C8ORF37 HERC2 TRNQ MERTK TRNS1 TRNS2 TOPORS TRNW USH2A RPE65 CLRN1 CNGB1 CNGA1 SNRNP200 SNRPN TBL2 MOG CEP19 CA4 IMPG2 PCNT ZNF513