Genetic Basis for Prediction of Non-responders to Dietary Plant Sterol Intervention

The objective of this study is to utilize information on associations between genetic predisposition pertaining to multiple single nucleotide polymorphisms (SNPs) and the degree of responsiveness of low-density lipoprotein cholesterol (LDL-C) lowering to plant sterols (PS). The predictive potential of SNPs associated with PS responsiveness will be evaluated using a randomized human intervention trial examining responsiveness of lowering blood LDL-C levels to PS intervention.

NCT02765516 Hypercholesterolemia Cardiovascular Disease

MeSH:Hypercholesterolemia Cardiovascular Diseases

HPO:Abnormality of the cardiovascular system Hypercholesterolemia

2 Interventions

Name: Plant sterols

Name: Placebo

Purpose: Prevention

Allocation: Randomized

Crossover Assignment

There is one SNP

SNPs

1 rs3808607

The change in deuterium enrichment within red blood cell (RBC) free cholesterol we be determined as an index of synthesis over days 28 and 29.. Inclusion Criteria: - Fasting LDL-C concentration >3.0 and <4.9 mmol/L - Fasting glucose concentration <6.1 mmol/L - Fasting triglyceride concentration <4.52 mmol/L - Genoset required: ; ApoE ε3/ε3 CYP7A1 rs3808607 T/T (n=20); ApoE ε3/ε3 CYP7A1 rs3808607 G/- (n=22); ApoE ε4/- CYP7A1 rs3808607 -/- (n=22) Exclusion Criteria: - Consuming, or have consumed in the last 3 months, medications or nutritional supplements which are known to affect lipid metabolism (such as cholestyramine, colestipol, niacin, clofibrate, gemfibrozil, probucol, HMG-CoA R inhibitors, methotrexate, high dose dietary supplements, fish oil capsules or plant sterol or stanol), or have any dietary restrictions which would prevent them from consuming the trial treatments - BMI >40 - Must not have self-reported weight gain or loss greater than 3 kg in the past three months - Phytosterolemic - History of active cardiovascular disease including stroke, congestive heart failure, myocardial infarction, unstable angina pectoris, coronary artery bypass graft, percutaneous transluminal coronary angioplasty, temporal ischemic attacks, anemia, abnormal electrolytes, proteinuria, and abnormal liver, kidney or thyroid function - Type 1 or type 2 diabetes, a history of cancer or malignancy in the last 5 years, or any metabolic disease, gastrointestinal disorder or other clinically significant disease/disorder which could interfere with the results of the study or the safety of the participant.

- Uncontrolled hypertension having systolic blood pressure >160mm Hg or diastolic blood pressure >100mm Hg - Smoker, tobacco/snuff/nicotine users, recreational drug users - Consume more than 14 alcoholic beverages a week - Participants who are pregnant or plan to become pregnant during the trial period or lactating mothers - Participants will be excluded if they have clinically significant biochemistry defined as: LDL-C <3.0mmol/L or >4.9 mmol/L; TC > 6.2 mmol/L; fasting glucose: > 6.1 mmol/ l, fasting TG >4.52 mmol/L; AST >100 U/L; ALT >100 U/L or or any other clinically significant abnormality in hematology and/or biochemistry at the investigator's discretion - Patients with unstable or serious illness, for example, dementia, terminal illness, recent bereavement, recent significant medical diagnosis will also be excluded Inclusion Criteria: - Fasting LDL-C concentration >3.0 and <4.9 mmol/L - Fasting glucose concentration <6.1 mmol/L - Fasting triglyceride concentration <4.52 mmol/L - Genoset required: ; ApoE ε3/ε3 CYP7A1 rs3808607 T/T (n=20); ApoE ε3/ε3 CYP7A1 rs3808607 G/- (n=22); ApoE ε4/- CYP7A1 rs3808607 -/- (n=22) Exclusion Criteria: - Consuming, or have consumed in the last 3 months, medications or nutritional supplements which are known to affect lipid metabolism (such as cholestyramine, colestipol, niacin, clofibrate, gemfibrozil, probucol, HMG-CoA R inhibitors, methotrexate, high dose dietary supplements, fish oil capsules or plant sterol or stanol), or have any dietary restrictions which would prevent them from consuming the trial treatments - BMI >40 - Must not have self-reported weight gain or loss greater than 3 kg in the past three months - Phytosterolemic - History of active cardiovascular disease including stroke, congestive heart failure, myocardial infarction, unstable angina pectoris, coronary artery bypass graft, percutaneous transluminal coronary angioplasty, temporal ischemic attacks, anemia, abnormal electrolytes, proteinuria, and abnormal liver, kidney or thyroid function - Type 1 or type 2 diabetes, a history of cancer or malignancy in the last 5 years, or any metabolic disease, gastrointestinal disorder or other clinically significant disease/disorder which could interfere with the results of the study or the safety of the participant.

HPO Nodes

HPO:

HP:0001626: Abnormality of the cardiovascular system

Genes 4077

WHCR CTC1 ABCA12 NAA10 ALOX12B TET2 UBE3A NAA10 MC2R SERPINF2 KCNH2 ZNF423 TSR2 EXT2 NOD2 ATP2C1 SDHC ZNF469 SETD5 IGSF3 PSMD12 BCL10 OTULIN GYG1 FGF17 SGO1 HESX1 FOXP3 CCDC141 PACS1 PRKCD RET PLEKHM1 FCGR2C KCNJ2 GCDH HADHA LMNA MAFB KIF7 RECQL4 MAP2K1 CDH23 PTCH2 ERAP1 GATA4 F5 GGCX ND4L IL17RA TGFB3 CACNA2D1 TMEM70 KCTD1 TUB NDUFS1 VPS13B RAP1B EIF2AK3 EFEMP2 ACTA1 SIM1 CCDC39 GP9 PRPF6 SHOC2 SDHA CNGA1 ANO5 ACTG1 WWOX PDE11A SMG9 PROK2 GNE CHCHD2 XRCC2 LARP7 ARHGEF18 SLC29A3 FGFR3 ELAC2 GDF1 STAMBP PRPF3 CDKN2B KCNE1 VHL KCNH2 KDM5B SPARC BIN1 MLH1 POLG POR GNAT2 FCGR2B F13B SLC26A2 EPHB4 H19 PTEN MPL STAT3 TEK SERPINF2 FBN1 SLC2A1 CDK4 SDHC SYNE1 MYL3 BVES GBA ALB LDLRAP1 LEPR ACVRL1 PIK3CA THOC2 ANKRD11 PDE3A KCNE2 FHL1 SH2B3 PIGS USP9X RPL35A B4GALT7 PAM16 HLA-DPA1 DMD FLNA GUCY1A1 SDHB ECHS1 AKR1D1 BBS1 CFAP410 MYH7 LDB3 TOP3A MAN2B1 POMT1 ACSL4 POLE CFAP300 CWC27 CSRP3 MVK PEX16 PROS1 FN1 GYG1 JAK2 STK36 C8ORF37 CCDC22 TSFM CALM2 SOX2 GATA1 SUGCT GATA4 POR NDUFS2 HRAS TGFB3 DTNA ASXL1 LMNA COL7A1 JAK2 MPI RPS17 HMBS HSD11B2 TBX1 ABCA1 NUMA1 LIG4 NBAS ITGB3 FGFR1 ND5 SDHD PEX3 TRNE DSP AKT3 ACADVL BCL6 FKRP CNBP ATAD3A ERCC2 CAV1 RPGRIP1L ABCA4 ADAT3 MYC STAT5B DNAAF5 GBA CEP57 LMAN1 TULP1 FGF20 SDHB COL1A2 FOXA2 JAK2 SMAD6 STIM1 MTOR MRPS16 HJV ERCC4 DEAF1 MYLK EDNRA KBTBD13 ND5 HDAC8 PEPD LEMD3 F13A1 PIGA VCP SLC17A5 GPD1 KCNJ5 ORAI1 GATA6 NABP1 TKT ARHGAP31 SLC19A2 SNRPB NSUN2 TXNRD2 DSG4 MCIDAS PEX1 PRF1 SYT1 MKKS FERMT3 ANKRD11 ZFP57 ARMC9 LMBR1 NDUFA10 FGA IRF6 TRNC MIF AKAP9 TGM1 DNAJB13 DCAF17 TF CLCN7 ZMYND10 SALL4 NID1 PIGT SCNN1A CACNA1C TRAPPC11 NDUFS1 TRAF3IP2 SLC18A2 FBN2 CEP290 LETM1 SMC3 SDHC TPP2 GLI2 PLCB4 COL4A5 NR2F2 TTN MECP2 SRCAP TBX4 SRY SETX TACO1 COL7A1 RNASEH2B SPAG1 ARL2BP NDUFA9 NDUFS2 SMAD4 F10 TGM5 SCN2A LMNA EPG5 RPS26 FUZ KCNJ5 FAH COX20 COL2A1 UVSSA HBA1 RBM10 WDPCP OCLN RRM2B PPOX TPI1 PSAP TBX1 PIK3C2A GALNT3 SLC35A1 CHRNG ARCN1 FGFR1 ACADL SDHC NDUFV1 HTRA2 SEC23B SPRY4 PARN BAG3 LYST SETD5 POMGNT1 SIK1 GP9 NRXN1 FECH FGFR1 KIAA1549 CACNA1S HLA-B ADAMTS10 NOTCH2 CIITA DACT1 MC1R WNT10A PROC DLL3 CBL C1QBP ARID2 SCNN1B FN1 GAS1 GTF2E2 RPS17 GNAI3 FKRP CRYAB YY1AP1 BMPR1A KDSR CSPP1 BBS12 RNASEH1 TRIP13 IL23R CPT2 ND6 SLC52A2 NEK2 FOXC2 CERKL FLNA ADNP MTAP FANCA MSH6 NDUFA13 SAMD9 COL5A2 POU6F2 SERPINC1 TTC8 NSD2 BRAF PIK3CA KCNE1 KCNJ11 RBP4 SDHAF1 PIEZO1 RBM8A BAG3 SCN4B RAF1 GFI1B MEN1 TERT HESX1 TRIP13 UBR1 PEX13 ELOVL4 TBX5 RAG1 MYLK MYH7 HAAO NXN PRPF31 ALG1 ND5 ATP6V1E1 LRP2 CD79B OTUD6B GJA1 GTF2I PLOD3 TMEM237 PTPN22 PRPH2 LMNA GUSB TRAF3IP1 SLX4 TNFRSF13B D2HGDH GATA1 RAD21 KCNN3 DKC1 SCN5A TCOF1 ALG12 APOE SCO1 PTH1R SLC26A2 CR2 TNNC1 SRCAP VWF SMAD3 CTNNA3 RPS15A WDR26 APOE FANCI TET2 ATOH7 ABCC9 KCND3 TRIO MMP1 TTC8 SCN4A FIG4 MUC5B LMNA GPC3 RET HJV TPM3 KPTN PEX16 CPT1A ATP6 PLCG2 DPP6 DSP OSGEP COL1A2 TRNE MAPRE2 F13A1 LRRC6 FLNA CTU2 OTX2 DDRGK1 HYLS1 MED12 LIMS2 ARL3 NONO PRKAR1A KRT14 DCAF17 APOB MLH3 TMEM231 AHI1 CHN1 CLPB GDNF TAF1A GBA ARL6IP6 RERE NOS1AP TBX6 TRDN TERT LMNA IL2RG TP63 BBS10 HGSNAT SRP54 SLC20A2 NXN NOTCH3 CYTB PCCB HLA-A RPGR TAZ TMPO SCARB2 AKAP9 CD70 TRPM4 BEST1 ABCC8 FSCN2 GABRD ND4 TBX19 MYO18B ERCC6 COX3 ROM1 SIX3 LAMC2 MKS1 IRAK1 CTSH JUP DAXX MYBPC3 CRYAB ALG10B RAF1 EXOC6B ATF6 VAMP7 MYH7 RIPK4 HSD17B10 PIK3CA FTL KDSR SARDH C12ORF57 SLC39A13 CCM2 CYTB DNAI1 SMARCA4 TWIST1 AKT1 PDGFRB RSPH3 FLNA G6PC3 FAM149B1 ANK1 FAM13A CDKN1C SAG KRAS RYR1 KIAA0586 FGF8 RIT1 ARID2 ATP5F1D SNRPB MERTK HNRNPA2B1 STEAP3 PPCS IGH DIS3L2 VPS33B SCN5A PGAP3 F8 LMNA NDP TP63 LONP1 COL7A1 VPS35 TRIM8 CC2D2A ND6 KCNJ18 FANCE ICOS SDHD DUX4 LIG4 KIF23 MKS1 LAMP2 TWIST1 TSC1 SLC4A1 NDUFS2 TNNT2 PRDM6 ABCA1 XRCC2 NAGA ARID1A DHDDS COX7B PEX7 TFAP2B WNK4 ELN DSP FGFR2 FOXE1 ARMC5 NDUFA2 MAP1B BIRC3 GLB1 CNGA3 RFWD3 NEUROG3 NAXD GATA4 GLA SPEG SHOC2 TRDN ND6 F7 PHGDH GBA AKT1 RPL27 SKI NR5A1 PPARG GJA1 COMT ATP6 MVK CFB NAA10 MKKS WAS NFKB2 CYP11B1 AK2 SELENOI TMTC3 ROM1 SOX10 PTEN TGFBR2 CYLD UMPS PIGY ND2 TNNI3 FADD MRPL44 COX1 ANGPTL6 EXT1 CIZ1 DHPS REST ND4 PCNA KCNN4 SDHD TMEM126A GAS2L2 ZNF423 SLC2A1 NUP107 TRNQ FANCB RPS26 CDK13 GJB6 PEX19 TGFB1 KCNQ1 RPS6KA3 USF3 CAV1 KRT16 H19-ICR CYP11B2 LDB3 RYR1 DHX38 PET100 ABCA4 MTMR14 SCN9A GATA5 TMEM237 ERCC2 PCARE DMPK RLBP1 WASHC5 KIT CSRP3 ACAD9 TREX1 DNAAF5 GTPBP3 GSN CD3D PTGIS TMEM67 TERC TRNN CDKN2A NDUFV1 SCNN1B PTPN11 SMARCB1 GJB2 IL7R FGF23 MYL2 RHOH F5 CTLA4 RARA SCNN1G RARB ALDH18A1 PLIN1 HLA-DQB1 IFIH1 CPT1A GLMN SLC25A22 HLA-B IFT88 BRCA1 SDHD ARID1A JAK3 PQBP1 KCNQ1 EPAS1 SPECC1L NDP PHYH BBS7 ITK HEXA PRKCD ACTA1 LAMA4 RDH12 SUFU ABCD4 IDH1 FOXE3 IDUA ATRX GDF1 IDH3A PIGT NPM1 ABCC6 COL1A2 JAG1 MCCC2 EDA2R ANKRD26 ELN SCN5A INSR SLC12A3 BRAT1 FBN1 LIMK1 SERPING1 CEP164 TRNT1 CALR ARL6 TRNF TGIF1 KIZ CDC45 MEIS2 CPLANE1 PTEN TRDN COX3 TOPORS TNNC1 CLIC2 ATR GREM1 RTEL1 VCL PRKAR1A PEX1 MMP1 ADAMTSL1 ATP7B FKTN RGR TGFBR1 TECRL OFD1 TMCO1 SCN11A HIRA FHL1 DCAF8 NEK8 APP KIF7 KMT2D POLG GATA4 HTRA1 SEC63 SCN10A KRAS CHD4 ANTXR1 PTH1R XYLT2 F5 GJA5 SDCCAG8 AUTS2 PGM3 TGDS ELN EGFR RLIM GDF2 IRF5 POLR1C SIK3 CACNB2 SEC23B RPL31 AGL PBX1 HBG1 DPP9 NEXN PIK3CA NLRC4 BMPR2 PTDSS1 ITGA7 COQ2 HNRNPU BTK NBEAL2 KIAA0753 TTC25 TBX2 CRLF1 COG2 MAT2A CASP10 ATRX PRKCSH SOS2 CCDC174 MYH6 RRAS2 CFAP53 COL3A1 TSC1 AHCY RHO BRF1 ECE1 ITGA2B CYTB SLC26A2 PEX6 GJB2 ACTA2 LRP1 GJB6 GATA6 ATM NEB ETHE1 PMS2 MEOX1 SOX10 PIGV TSC2 GP1BB ADA2 AIP NKX2-5 DSP LETM1 SGCG NDUFS4 ETHE1 TP53 SNAP29 RAD51C CDC73 CACNA2D1 MYMK EFTUD2 CEP120 GJB4 SOS2 BCOR FAM111A MYD88 ABCA3 JAG1 TMEM70 APOE IFT81 PYGM PHKA2 PSEN2 NUP107 GNAQ NRL DMRT3 NSD1 HPS3 NDUFA2 KRT5 BBS4 PLEKHM1 BAP1 CFAP221 B3GALT6 TNXB GUCY1A1 PGM1 AP1S1 SCN9A ALDOB ADK KCNQ1OT1 POGZ CAVIN1 CTLA4 FRG1 PRDM16 TGFBR2 SLC29A3 NDUFV2 GNB5 ABCC6 IDH1 NDUFS8 FBN1 GATA1 KRAS SPP1 GANAB CYP21A2 NBEAL2 CCND1 NOP10 MSH2 MUC5B FBN1 PLEC KCNQ1 UNC13D CCM2 LTBP2 JAK2 MMEL1 MYH6 SDHA FZD4 FOXP1 FLNA SPIB NF2 HOXA11 BMP2 FOXC1 WT1 MYH6 SMAD4 CALM1 CCDC151 CLCN2 MPL GNAQ SDHD CREBBP IFIH1 THBD PHYH SRD5A3 EPG5 IL2RG PORCN IDH2 ERCC4 TGFB2 MYO5B PEX1 KCTD1 MLX COX3 KYNU B9D1 SMAD9 TCTN3 GPR101 VCL MAP2K2 TTC37 IARS2 PIK3CA BRAF PDE6H TNNC1 DOCK6 SERPIND1 VPS33A TRNL1 TGFB1 TINF2 CERKL PRKG1 PHOX2B EBP GM2A AGT PDCD10 CHKB DNMT3A BAG3 LMOD1 GBA CPN1 AIP MYOT ALKBH8 TACO1 AGA GJA1 RPS20 ACTN2 IL7R BMPR1A BMPR1A LAT DNAAF4 NDUFB11 LCAT PEX11B B2M ND1 MAP2K2 DOCK6 PIK3CA NFIX POMT2 ELP1 SETD2 DCLRE1C HBB MEN1 CAV3 COL4A1 RPS10 HFE TSC2 FASTKD2 GCH1 FGFR3 IRF8 SCNN1B HABP2 RHAG SCNN1G ACADM OTX2 FBP1 PDSS1 NDUFA11 MTM1 KCNQ1 MARS2 TUBB DSG1 COG8 ND1 SLC7A14 CASQ2 TJP2 NDP WDR60 ACTG2 LMX1B MYOC MAF NSD1 TGFB3 EIF2AK4 FGG TMEM126B MEFV NCAPG2 CDKN1A CCBE1 TMEM216 IRF8 CA2 PSEN2 RAG1 PIK3R2 NEK1 RAF1 FGFR1 FGA APOA5 STAT3 FBN1 CENPF TAZ POLG2 SCAPER SEC24C RAB3GAP2 FLNA CRB2 C1R HPSE2 APOA1 B3GLCT NF1 NF1 CIB1 AGK POLG ADAMTS3 SCN5A MAP3K1 CAV3 KCNH1 MMP21 CFTR FANCC AVPR2 ZNF469 TNFSF11 SDHA SDHB SDHB BBIP1 SPTA1 FBLN5 RS1 KIAA0319L NDUFA12 MKKS NPPA MED25 CHST3 GP6 BCOR LTBP4 SLC25A4 MTRR ALAS2 DLEC1 B3GALT6 PIEZO1 SGCD COQ2 ARX AKAP9 BRCA2 VPS13A PTPN11 GNB5 DISP1 AGK SH2B3 IFT172 MAP2K1 SMARCE1 STIM1 PDE6G FIG4 KRAS DNAH5 PRKAG2 PSMB4 DNASE1 DMD ADGRE2 ELN LRP5 PTEN LMNA WNT5A DCHS1 CAV3 COQ9 PROM1 PIGP PSMD12 PEX10 NPHP1 MEN1 CHRM3 HADHB SALL4 TELO2 FHL1 TTC25 GPX4 ALB DCC KIF1B RAB27A KIAA0586 CASK SLC2A10 REEP6 SLMAP RREB1 FOXE3 TWNK CST3 CLDN1 LFNG RAF1 SLC35A1 IGF2 FANCC CD46 PGM3 KLLN LRP5 RPS7 RAI1 POLH COL2A1 WRN SARS2 GP1BB KCNA5 KRAS CDKN2B CA2 RPE65 DDRGK1 COG5 ND6 USP18 CACNA1S TMEM231 HYLS1 PALB2 UBR1 C1R PRTN3 MEFV USP8 FGFR2 ABCC9 HOXD13 ENG CD109 C8ORF37 DSG2 TBXA2R OFD1 TP63 TMEM107 COL3A1 PTEN SMPD1 MITF SDHC PRDM16 FLI1 CRPPA STK11 STAT3 MYL4 NFE2L2 CALR ITCH PEX6 ZAP70 PTPN22 COPA PIK3R2 CC2D2A HFE PRKAR1A SCO2 KIF5A PEX2 BAP1 PSAP USP8 SLC29A3 HLA-DRB1 PML NKX2-5 ARFGEF2 SFTPA2 GATA4 AKR1D1 SMARCAL1 SC5D ATP7A SPTA1 SLC39A13 RERE BACH2 NDUFS4 MYH11 SGCD RPGR IGF2 TDP2 TERT INTU GSN FANCL SDHB ATRX FUCA1 MEF2A ELMO2 CRTAP SERPING1 NSD2 MECP2 GLRX5 MNX1 CASP8 TTN HADH CYSLTR2 SMARCB1 RAP1A WDR11 KLF13 SERPING1 FLT4 PEX5 USB1 SLC22A4 FSHR ALOXE3 HBB PSMB9 NRXN1 ANOS1 CHST3 KRAS IGH ACVR2B FANCI HSD3B2 SCN1B GNS POLG2 IRF8 TIMMDC1 ATP11A TNFRSF13C CEP120 PROKR2 MAP3K7 CD27 SGSH ACAD8 NFIX NOTCH2 USB1 TMEM67 ADA WDR35 COQ2 CEP290 CCDC115 NGLY1 CCDC22 TF POMT1 IL2RG NCF1 SCN9A F2 ERMARD TGFB2 INTU RB1 MYH11 ACTA2 LIFR FGA TNFSF11 SCN2B TMEM231 PIGV NT5E MYL2 PROP1 SF3B4 COL1A1 CHRNA7 PDSS2 LMNA CNGB3 AMMECR1 TRIM32 SDHAF2 HBB TNNI3 GNAS MGME1 SDHA TPM1 FANCD2 COL3A1 LTBP4 CYP24A1 BBS2 POMT2 SMAD4 NHLRC2 PRKAR1A ITGA8 MIB1 SEMA3A SDHB PAFAH1B1 SDHC TRNW PPP1CB THPO PEX6 RPL11 MYPN IL2RA BCS1L CYLD APC2 MYPN RSPH9 SAMD9 TMC6 PACS2 TRNH ATP6V1A GATAD1 DNAJB11 NLRC4 GPR35 TBX1 ATP6 TFAP2A HCCS NEB JAK2 KCNJ5 FLNB PIGT TBX3 NPHP1 MEGF8 TTN ACTA2 NLRP3 TBX3 APOE TCIRG1 AHI1 PLN IL17F PKLR NPHP3 CDC73 IRF5 FAS MRE11 NPHP4 FBN1 ALOXE3 PROC HADH MYPN RBBP8 BBS5 PRKACG AIRE COLGALT1 GTPBP3 SFTPB FADD RYR2 RNF168 IFNGR1 GAS8 PEX16 COL1A1 XRCC4 SOX3 DSP AGTR1 KCNJ2 TRPV3 CRKL SURF1 TNNI3 CYP11A1 MYH11 TALDO1 TPM1 LHX4 POLG NR3C2 ENG C8ORF37 ARID1B PEX5 SGCB SCARF2 PEX13 ESCO2 ISG15 AMMECR1 JAK3 FGA XK TNFSF15 CEP104 XPR1 TNFRSF1B DDB2 AVPR2 EVC2 COL5A1 PRKAG2 BSCL2 AHCY LYZ PLCG2 SOX10 MYH7 IL12A LRRC56 FASLG ERCC6 STOX1 HSPG2 BUB1 BBS2 IGF1R FMR1 KRT5 BSCL2 RP9 HSPA9 FGFR2 SCYL1 COG7 MYH7 HYDIN PSMB8 SLC2A10 CPS1 IL12A-AS1 SOX18 WFS1 PPA2 GPC4 SUFU MKS1 COX10 DOLK PEX2 POLA1 ESR1 RPL15 HBA1 WNK1 KMT2A NEUROD2 WDR19 ASCL1 CRELD1 NDE1 DNMT3A NEDD4L UFD1 SCNN1A RNF135 SMAD4 LRBA FGFRL1 FGFR1 HGD CSNK2A1 DHCR24 TPM3 RBCK1 TNNT2 NFKB2 CASR TBX20 SLC25A26 FGB IFNG HMCN1 PALB2 RAG2 FAT4 FCGR2A C2CD3 WNT5A POMP ABL1 ATP6 ZDHHC9 DES RMND1 NSD1 SCYL1 NDUFS2 RTTN ARSB EWSR1 AAAS CAT LORICRIN FGA CTNNB1 COX2 PEX19 PRCD PORCN SEMA3E FGB CACNA1D EPB41 EED NPHP3 FGF8 ASXL2 EVC TNPO3 SLC25A4 VWF SMARCB1 ZNF513 RPL5 AQP5 IDUA GJC2 MMP2 HBA2 MRAS SPECC1L LAMA3 ERCC4 MKS1 STAT4 F2 MAFB KCNH2 STK11 CSPP1 NRAS BTD BTK ND2 RPS6KA3 SF3B1 RAC1 NAA10 CD19 STRADA RPL26 DLD DTNBP1 SUFU NEBL NLRP12 ABCA1 GBA PDE6B RPS24 HMGCL FAT4 GBE1 PCCA SNCA DNAL1 KRT1 TNNT2 OTC BTK CYP11B2 AGGF1 UROS F8 LRIG2 SALL4 CANT1 IL36RN KIT ALPL LMNB1 ERCC5 DNAAF3 BMPR1A CYBB FRA16E GPC6 SMARCE1 ELN RPS28 PDGFB NDUFAF2 LMX1B HLA-DRB1 FKRP PAX3 KAT6B NOTCH1 HLA-DRB1 MYH7 FOXRED1 NECTIN1 EIF4G1 PLN TAPT1 WRAP53 SCN5A KDR DST SLC25A24 RFC2 SMAD3 ERBB3 ERCC3 KIT PUF60 ETV6 STK4 CCNQ F2 ND6 INPP5E CCDC40 ADAMTS10 NEK9 FKTN BEST1 XYLT2 PEX3 SOX18 DSG2 DPM3 TRNL1 GNPTAB CRELD1 GNA11 TRNW DLL4 TBX22 CTNND2 MICOS13 PNPLA2 PTPN14 ZFPM2 LIPA POLR1A PPCS HAVCR2 IL10 TMEM237 SUMF1 POMGNT1 KCNAB2 GUSB CHD7 BRAF AGPAT2 HBB ENPP1 SF3B4 MAB21L1 ARID1B MYH7 NLRP3 RIT1 HPS5 INS LAMB3 CALM3 SHANK3 SLC37A4 CSRP3 CHRND CEP290 AARS2 JAK2 ATP8 ARMC5 SHPK TOPORS ISCU GJB3 IDH2 GNA14 STX16 OFD1 CPT2 FGFR2 PIBF1 ESCO2 TCTN2 LRP5 TKT USP45 SCNN1G NSMCE2 MPL TWNK PRKCH CYP3A5 SFTPB DNAH9 SLC40A1 NCF2 DUSP6 TP53 RAI1 AFF4 PDE3A SURF1 TRIP4 GDF3 BANF1 BBS1 DNAAF1 CYP11B2 NPHP1 RIPPLY2 CD79A SIM1 BRIP1 DCTN1 DSG2 CCDC114 KRIT1 PDGFRA ALG8 NKX2-5 AGT ADCY5 APP HGD TALDO1 RNF6 BRAF DHCR7 BUB1B RSPH1 TNFRSF11B ACTA1 TPM2 ND1 ERCC2 STIM1 HSPG2 OBSL1 ADCY5 STAT1 CCDC114 IL12RB1 CD244 C4A CALR POT1 INPP5E CA4 TRNK CD28 TTR GALNS ABHD5 EYS KCND3 EHMT1 PROS1 MFAP5 CALM2 LIPA CDSN MKS1 PRRX1 FLII TMEM237 PKD1 SLC4A1 SP110 F10 TMEM43 MGAT2 CXCR4 MED25 POLG CD55 CCDC28B SCN1B FOXJ1 TBX1 TLR4 IFT27 PAFAH1B1 NF2 RBM8A FANCB NDUFB10 NDUFAF5 COG4 SDHB ZNF408 ITCH MCTP2 RANGRF ITGB3 PSEN1 TSC2 FLT4 RASA1 COA8 TFRC TCTN3 KDSR ZNF148 KCNE2 KCNQ1 NKX2-5 STAT4 EZH2 ARVCF ND4L ZNF687 ZAP70 TFAP2B RNU4ATAC POLR3A CDKL5 COL4A1 RNASEH2C TBX1 COL5A1 TREX1 MYOC SEC23A SLC7A7 CYBA HFE NLRP1 MS4A1 MYH8 PUF60 COL1A2 BTNL2 BPGM TRNS2 NR3C1 HRAS HDAC4 KLHL7 NMNAT1 TNFRSF4 CFHR3 FGFR2 NLRP3 PRKG1 HBA2 KIT IFT80 CITED2 PHF21A NR3C2 ELOVL4 FKBP14 KLHL41 EXTL3 GP1BB MYRF KRAS SLC52A3 PIK3R1 STX3 DMD JAK2 HCCS SMARCA4 C12ORF57 SLC25A4 PLOD1 SDHD SALL1 GP1BA IMPDH1 IFT43 NDUFB3 PCSK9 FAS KRT14 CDON IL6 GP1BA ASS1 ABCG5 VANGL1 TRNK ERBB3 A2ML1 TCAP GJB3 DNAI1 MYH9 COL1A1 COL5A1 IL17RC TCF4 TRNS2 XYLT2 RRM2B OTUD6B NFIX TRPS1 CFC1 ALX4 TACR3 MPL TNFRSF11A IFT172 EDN1 NKX2-6 LIPT1 ATM CAP2 CEP290 NDUFA10 CCDC39 DNAH11 CHD7 KCNJ11 PROS1 SOX10 SETBP1 DES PEX10 MALT1 PKLR ASXL1 PLP1 SERPINC1 SLC4A1 SPAG1 HADHA DNASE1L3 SUFU FOXP1 PIEZO1 ATP6 PRPF4 GMPPB SCN5A NKX2-5 VWF NFIX KLF1 MED13L EVC LOX ALG9 PTPN11 SOS1 HEPHL1 GINS1 GLI2 SEMA5A FASLG SNRNP200 BSCL2 F2 TNFSF12 KIT ARMC4 NDUFS3 SMN1 AEBP1 KIAA0556 EPHB4 ND3 CHRNA1 EMD ACTA1 COX6B1 TCOF1 SPTB ANTXR1 KCNK3 HSPG2 RPGRIP1L KCNE1 ABCC9 AEBP1 RPL10 EPHB2 TGFBR3 CAV1 NFKB1 DNAH11 KDM6B P2RY11 FBLN5 NDUFS2 TRNS1 SOX4 PTPN11 ARMC4 RAB23 PSAT1 STAT3 FKTN JAG1 MNX1 NRAS MYH7 HIBCH SSR4 ZIC2 KCNJ8 BLM GJA1 FBN1 GNAS SYNE2 ESCO2 TPM2 AGXT GCK IFNG RPS19 MRPS22 B9D2 GATA6 POLH ARL13B TNFRSF1A IDUA GPI NNT GPX4 SOX4 MPL STRA6 RUNX1 ERCC3 PNPLA2 FOXF1 SOX3 GP1BB CTNS PPP1CB KCNE5 CYP17A1 CDK10 BRCA1 CFAP298 RERE DVL3 STXBP1 RFWD3 COL4A2 SMPD1 ICOS F12 DKC1 TXNRD2 SCN2B SMAD4 NRAS GPC3 XPC PRPH2 ARL6 LMNA SULT2B1 CSF2RA PMM2 EXT2 EXT2 FLNA SRY GGCX HYLS1 SCN5A CCR6 FLNC COX7B TPI1 WRN VHL BCOR AP1B1 MAPT EPHB4 MMUT COG4 SPINK5 NDUFS7 NPHP1 VIPAS39 SCN5A APOA1 GLI3 GFI1B GPC3 RARB GDAP1 PIEZO2 MAPK1 TAB2 DSC2 PHKG2 KRAS PPP1R15B FAT4 FIBP DVL1 EOGT TRNT HLCS EDN3 CDON TANGO2 THOC6 RET TAF2 ATM IL6 ARL3 AKT1 MYH9 THPO LONP1 CYP27A1 TERT KCNA1 TPM2 ITGA2 RYR1 FBLN5 ND2 EYA4 MLYCD LPIN2 RB1 IFT172 TBX1 SP7 GNE H19 PDE4D NDUFAF3 ABCG8 RBM10 LMNB1 GAA CHRM3 UBE2T DMD SERPINA6 FLAD1 TMEM67 SCNN1G CD79B PIGO RPL18 WT1 LDB3 MAP3K20 FBN2 IKBKG JUP GREB1L CC2D2A GDNF GATA6 FANCE RIN2 ACAD8 FLNB SCN1B ARF1 KIF11 POU3F4 DHCR24 FAM161A GJA1 CHD7 TERC DCDC2 EDNRB PTCH1 MPIG6B CYP1B1 GNAS MYH7 FOXRED1 MAP2K2 SRD5A3 CARD9 SOX9 SNCA MED13L DNAAF4 RRAS NOD2 KCNE3 TBC1D24 SLC19A2 AKT3 RIN2 MGMT RPL10 RPL5 KIF7 WDR60 PRRX1 TCF3 COA6 KYNU GRIP1 ACTC1 HAMP CDAN1 BRAF ADAR TRPM4 PARN MYLK COL3A1 TXNL4A TPM2 ENPP1 TRMT10C ZNF365 CAV1 SLC25A24 STX11 DHCR7 ADA2 TSPYL1 COL6A1 RLBP1 SH3PXD2B DNAH1 PMS1 FGG SLC25A20 MTFMT COA5 RPS6KA3 COL4A1 SAMHD1 TAB2 GPR101 NDUFS8 COQ2 ND1 LMNA MYH7 NT5E ADAMTSL2 GTF2H5 SON FANCM LDLR RET GGCX VHL ABCA1 ADD1 ARHGAP31 HCN4 PSEN1 SOX18 CTLA4 RPS15A SOX9 ZMYND10 EPCAM KAT6B MPLKIP GLI3 AKT1 ARL6 LZTR1 MYF6 FLRT3 RASGRP1 MTHFR PDHA1 CENPE NDUFB11 TNFRSF11A TTPA IL10RA PCNT HLA-B PEX1 COL2A1 CACNA1C SON UPF3B IRF5 BGN BCHE TFR2 TREX1 SMAD6 BTNL2 CLRN1 FGFR1 SCN5A KMT2D NEXN CYBA KAT6A CPOX ARPC1B PPP2R5D FGB VPS45 PLG TAB2 PGAP2 DNAAF6 PYCR1 LYST TP53 ND4 RPE65 RPSA TANGO2 TBX1 JAK2 MRPS14 IL17RD LYST RNASEH2A SPATA7 LMNA ACTC1 DSE PIK3CA RPL10 AHR C2 SDHAF1 CYP7B1 CACNA1C PALLD GATA6 HPGD GNAS TTC7A FARSB PRCD FGFR2 GATA1 MED12 ARX ALG9 BPTF ABCC9 PEX5 CLCN7 FMR1 TPK1 SEMA3E CCN2 NUP155 G6PD EED MTHFR DMD CCDC103 LIPC TPM1 KLF1 WT1 RNASEH2C DOLK GABRA3 DYNC2H1 GPC4 OFD1 ND5 IGHM HEXB ATP2C1 PDGFB CTSA B2M PHOX2B SDHA ABCC9 ACTB BCR TRAF7 RRM2B NOTCH3 MUC1 SDHD DDX59 MAP3K7 CTBP1 NOTCH1 CRX DPM1 ATP8B1 CRB1 NKX2-1 PEX12 MTTP TRNS1 ESS2 DPF2 CAV1 IDUA RNU4ATAC ELN SACS MST1 TGFBR2 ECE1 HADHA DNAH9 TCTN1 TNFSF12 GATA6 PEX19 KCNQ1 NAGA WT1 APC TRIM28 DES NLRP3 CTSK IDH3B LOXL1 RYR1 LMNA BMPR2 DPM3 RECQL4 MVK KCNQ1 SFTPC FLNA COL11A1 GNAO1 PALB2 EBP PAX8 TK2 TMEM67 TEK NHP2 CFH HBB DCDC2 TDGF1 PARS2 FLNA DCLRE1C CLCF1 COL4A4 NR3C1 CYP11A1 TRNQ COL6A2 CHRNA7 COX8A PQBP1 PTF1A WAS KDM6A TGFBR1 ATP6AP2 IL12A NTRK1 HLA-DRB1 SLC25A20 FZD2 FGD1 ALMS1 GALE NRAS HES7 PCNT MAP3K7 COQ4 ADA2 SMC1A TGFBR2 GMPPA GFI1 HACD1 RNF125 FANCD2 FKBP14 SOX2 SCN3B NEK1 VHL GLA CDC42 TERT FERMT1 ERCC2 SLC25A11 KCNE2 GUCA1B ABL1 STXBP1 ASAH1 ATP6V1B2 PDE8B ND1 FXN CDKN1B NEK9 FRAS1 DNAAF6 IL1RN PDE6C FSCN2 PLOD1 FIBP EXT2 FLT1 FN1 FBN1 DGUOK GJA1 GBA WASHC5 MTFMT GATA6 GLUL GJA1 FLNC KRT2 CDC42 SLC4A1 CCDC8 TRNS1 TRDN KCNMB1 TFAP2B LIPA CFAP298 GATA2 TP63 ACTN4 AHI1 CKAP2L ZBTB16 NOS3 FUCA1 KIAA1109 HS6ST1 BMPR1A DNAAF1 ACTG2 SIX3 CAPN5 PTEN TREX1 SEC23B APOC2 XPA GLB1 RPS27 PCNA HMBS LDLRAP1 PTPN22 RAI1 INPPL1 HYOU1 MGP HPGD C1QA ELN CBS CYP27A1 RAG2 TERC LOX COX1 XPC KCNN4 ENG BUB3 NDUFA11 FANCA DYNC2LI1 GJA5 CCN2 ELANE NEXN GPD1L RAI1 MASP1 CCR1 MAD2L2 PKP1 CCDC103 GJB4 KRAS FOXP3 CD3E CD19 SMARCC2 TRNV KCNE3 PCCA HLA-DRB1 GCLC COX14 CTSB CEP57 TLL1 WNT4 WIPF1 SLC25A13 BCL11B TTN LMNA CDKN2C GPC1 F13B SF3B4 JUP SCN5A GJA8 OPA1 CEP55 NLRP3 KCNQ1OT1 ALPK3 KDM6A NDUFAF4 BBS2 NGLY1 ATXN7 CCNO GATA1 BBS9 NDUFAF1 ALG1 PEX26 TAZ POLR1D ATIC EPB41 ACADVL SLC25A3 SIN3A CPT2 PITX2 WFS1 NRAS CISD2 GLRX5 LRRC8A COA8 SELENON SH2B3 OSTM1 POMT1 SMOC1 MRAP FIP1L1 TBL2 CPOX PNPLA6 SPTB TWNK PMPCA SFTPC MSX1 ITPR1 TBL1XR1 XPNPEP2 ATPAF2 TWIST1 MDH2 PRPF8 ICOS STRA6 SCN3B YY1 FCGR2A FBXL4 XPA AFF4 CLIC2 RASA2 SLC20A2 SOX2 TRNW NDUFAF2 GMPPB CLCN7 KLHL3 SOS1 XPNPEP3 ARNT2 PRKCSH GNE ARSA PEX7 COX15 USH2A CCBE1 SMCHD1 SNX14 ELANE ADA2 COL18A1 NME8 RAD21 NDUFAF3 DPF2 PIGO ERCC3 ALDH18A1 FANCF CARD11 WDR19 COL2A1 PLVAP FAS CTSB PDGFB CLCN7 ADAMTS2 DNAL1 IGFBP7 PCCB HLA-DPB1 HCRT DLST CSTA MC4R ADA TMEM138 SLC35A2 AMER1 CFI HOXA13 RSPO2 NDUFAF5 COQ7 CYP26C1 MECP2 KCNJ11 ERCC2 TP63 LMX1B ITGA3 ENPP1 RPGRIP1L TRNK RAI1 TRNL1 SPEF2 SYNE1 NDUFS4 RASA1 SLC26A2 COL6A3 F9 PIK3R1 CHST14 GNAQ ERGIC1 PRDM5 SDHB PRKAR1A SLC7A7 KCNQ1 CDH23 ZNF513 IQSEC2 SAA1 ATP6V1A LBR CEP120 MYH6 ANK1 RNF113A TNXB ANK2 IRX5 GDF2 ALMS1 TRIP11 GBA HBB CASR WT1 SALL4 PUF60 PNP HOXA1 TRIM28 PSMB8 MCCC1 LARS2 NOTCH3 PIGL CYP11B2 DNAAF3 KIT AGA IFT172 PDE6D TRAC ASAH1 NPM1 IKZF1 GATA6 TTC8 TPM3 GLB1 WNT3 CLRN1 EOGT ZEB2 NAGLU MLXIPL SCN10A EDA SCNN1A LMNA CDH23 IKBKG PACS1 TXNL4A ALX1 TGFBR1 PPARG CYP7A1 EBP ELP1 NDP BAZ1B MYH7 IL12B MAX POU1F1 TMEM43 SCN5A CHRNG MEN1 SLC22A5 ATP5F1E CPLX1 CUL7 WDPCP ACTG1 YY1AP1 ADAMTSL4 AIP BOLA3 CYBB PTEN ROR2 PQBP1 SDHB OTX2 ABCB6 GLB1 RET ANK2 POLR1A IGHM IFT140 POGZ ANK1 NR0B1 MAP3K7 CFH LBR PPARG MYOT LIPN NIPBL TET2 NDUFA1 DOCK8 LRRC6 GJA5 GTF2IRD1 ATP6V1E1 LMNA GP1BA PRKAR1A CCDC65 NDUFS7 GATA6 ATP7A RP1 MYORG SOX11 CD40LG GATA1 IFNGR1 GMPPB TWNK DNM2 CFI IVD SIX6 CHD7 NEU1 RBPJ CLEC7A PSAP HSD3B7 EXT1 PKP2 IDH2 ANTXR2 TP63 STN1 NF1 PLEC VCL NDUFV2 CALM1 CR2 PIEZO2 LACC1 ABCB11 DSE KRT8 CASK ZMPSTE24 GBA CCND2 PPP2CA LRP5 TMEM43 TOP3A SCN1B RPL35A DPH1 TCIRG1 GLIS3 CFI MYLK2 CHST14 ADA GATA4 DNAI2 DNAH5 CTSA TRNK MRPL3 TBX1 KCNJ2 DNAH1 RHO COL1A2 AIP CLCNKB COX2 ITPA KRT18 FKTN MID1 PRPH2 UROS PAX3 PIK3CD CORIN USH2A SBDS GNPTG CD81 MYH11 LRP5 LRRK2 NCF2 FHL1 VEGFC H19 KCNH2 TNFRSF1B TGDS RMRP SH2B1 ANAPC1 NKX2-1 CKAP2L VHL SNIP1 SPINK5 CACNA1S SMPD1 HRAS GNAI2 RPL35 DNM2 CBS RPGRIP1 UBE2A NDUFB8 COX7B ACADS CEP41 LDB3 INPP5E PIGN DGCR2 HADHA HMGA2 TTR ALOX5AP RPL26 POLD1 SMC3 KANSL1 F5 IL7 SOX5 SLURP1 TSC1 RAF1 HNRNPA1 GLI3 ACTC1 AKT2 TNFSF4 FLNA PIGN ZFPM2 TET2 UMPS HLA-DRB1 TRRAP SLCO2A1 BMP2 SELENON CAV1 IFT122 HAVCR2 PEPD ACAT1 LMNA ACVRL1 LPL DIS3L2 PIGA GNPTAB PHKG2 COL5A2 KRIT1 CCR6 BMP2 TBCK SNX10 COG7 APC GATAD1 MITF FGB FHL2 NDUFV2 CALM2 TERT ERCC4 TSPYL1 LRP2 DRC1 SDHD SDCCAG8 GBA NPC1 FZD4 PEX5 ZFPM2 LIPC HES7 LAMA4 GLI1 HPS1 HBA2 ALDOA TET2 DVL3 RAB23 TFAP2A CALR FGFR3 NDUFAF6 FBLN5 EMD LPL KCNJ5 TREX1 SEMA4A PKP2 RPL15 FMO3 SMCHD1 MEGF8 HGSNAT MMUT PEX26 NONO DGCR6 SMARCA2 SLC19A3 GPC4 RPGRIP1L MPL FOXRED1 CACNB2 WDPCP CCDC40 SLFN14 PEX2 NFKBIL1 XYLT1 NSDHL G6PC F11 MCM4 ANTXR1 HLA-DRB1 AMMECR1 PPARG DLL1 SOX9 SBDS OTC COX4I2 SH3PXD2B STING1 DIS3L2 RAD51C NDUFAF1 ABCC6 LAMP2 CYBC1 MAX WAS FOXE3 SP110 DVL1 RECQL4 IL2RB PIGL RPL27 LCAT NKX2-6 CCND1 C3 XYLT1 DGCR8 KYNU PKD1L1 FRAS1 TRNF CD247 COL1A1 NDUFA6 B3GAT3 DNAJC19 APOB DHODH AK2 RSPH4A COLQ BEST1 BNC2 RPL11 CRYAB CNTNAP2 SKI CYTB CYP17A1 COL1A1 MESP2 PKHD1 TNNI3 PPP2R1A CFHR1 CTCF GLI3 CD96 KDM6A FRG1 RPS29 PRKAG2 MYSM1 DNAI2 GJA5 ND4 KIF1B ZMPSTE24 COL11A2 VHL AQP2 LBR DDC SRP54 SMAD3 SLC12A1 WNT4 SLC39A4 KITLG NF1 WWOX ABCC6 COL3A1 GATA5 BIN1 PDX1 SDHA PEX14 SNTA1 PIGW MYCN CASR BCL2 CEP19 SF3B1 GMPPB INVS NDUFS6 POU2AF1 F7 CLIP2 ERCC8 MED12 KRT9 HSD11B2 JUP GYS1 TNNI3 NPHP3 CAVIN1 MVK COL4A1 CP TMEM127 GYPC MEOX1 ATP5F1A CD28 ACTC1 NDUFB11 HTRA1 CEP290 TMEM127 SHH STAR LMNA FOXH1 RHAG TMEM260 CRYAB MYOZ2 TBC1D24 UBAC2 FBN1 GATA4 NOTCH1 MED13L NLRP3 SNTA1 PNP MBTPS2 TSC2 IDUA NDUFS8 GNA11 UBE3B HSD3B7 RAG2 RMRP KCNQ1 PEX7 HLA-B NAGA KRT10 DNAJC13 PRKAR1A ATRX NEU1 FLNA BCOR ROR2 TRPM4 ACD SEC61A1 STEAP3 BCOR TARS1 ATN1 RET DLD OFD1 NOTCH2 APP P2RY12 KCNJ18 EFEMP2 B9D1 KRAS RNASEH1 POLG PLEC PDGFRB MYBPC3 IGH USP9X PIGN SDHA XIAP TBX5 TCIRG1 CPLANE1 ACTA1 BRCA2 KCNJ1 DLL4 MYPN TRPM4 DSP POMT1 CALM1 MGME1 SLC39A4 EPB42 C1S EMG1 RNU4ATAC LRAT SLC37A4 FTO ARID1B MYPN KRT14 TECRL NFU1 PDE6A DDX11 RPS19 ARL2BP HPS4 GDF6 PRKCD AIP NSMCE3 UNG SGCG SGCD LMNA CASQ2 TTC8 SLC25A11 NUBPL TCTN3 RBM20 FMR1 CCDC47 KAT6A PTCH1 HESX1 RAG2 RPGRIP1 HIBCH NOS3 DES FAN1 H19 NFIA FERMT1 RYR2 DPH1 CYP7B1 ERF TULP1 CUL3 COL4A3 ADAM17 VPS13B ND1 BLOC1S3 COL1A1 ATP6V0A2 CTC1 GATA4 TCAP LIPT1 VAC14 SUZ12 CFTR MANBA FGFR2 KCNJ2 GNAQ IGLL1 KCNE1 TMEM94 FREM2 PRDM16 FGG BTD PLAGL1 AGXT PDCD10 HK1 GP1BA FOXC1 PTCH1 TSC1 AGPAT2 SMC1A MEFV PDGFRA PDE11A SPEG AGTR1 GNB3 BAP1 ATP7A IGBP1 POLR3A DNAAF2 TRAIP GGCX COQ2 YWHAE ABCB4 SCNN1A CPT2 PEX6 RORC CCDC141 YARS2 DCLRE1C HYMAI MAK HABP2 KCNE5 GATA5 FEZF1 XRCC4 SKI IDUA APP WT1 CLCNKB FOXF1 FLT4 NKX2-5 PRKACA SLC25A4 ENG SDHD UCP2 MFAP5 TNNI3K PKD2 THOC6 TRNL1 GPIHBP1 RYR2 NELFA LEMD3 MYH3 SMAD4 AMER1 HDAC8 GNAS ERCC6 ATP6V0A2 BRAF WNT10A KISS1R SETBP1 RANBP2 KRAS ERCC5 POMT2 TGFBR2 RFT1 LZTR1 DVL3 EVC2 STN1 PTEN ND2 SEMA4A EPB42 AKAP10 APP RNASEH2A B3GLCT HCN4 C4A KDM1A LTBP2 DNAJC21 ITGA2B GDF1 NDUFB11 ABCC9 GPC6 FOS RAG1 TTN BRCA2 IDH3B DDX58 HELLPAR CACNA1D HCN4 FBN1 SFTPA2 CASQ2 FGFR3 NDUFB11 JMJD1C MEIS2 RAF1 PROP1 CD46 RSPRY1 DGUOK MBTPS2 PHGDH ITGA2B GPD1L ND3 KRAS CTCF NODAL DSP STAG2 KCNQ2 FUT8 RAD21 ND5 FAS NCF1 PROC CITED2 RAD51 CALM1 SCN1B GIGYF2 CACNA1H LRP6 INHBA CD2AP PIGL LTBP3 DYRK1B PIGQ SGCB ZIC3 PROKR2 PCARE HYMAI PRPF3 FBP1 SMOC1 SYNE2 LBR LRP5 CCND1 ITGB3 ABCG8 CST3 TRMU PLD1 LAMB2 WDR34 SLC52A2 ADNP CCDC151 LEP KRT5 IRF2BP2 TCIRG1 LRRC56 CTNNB1 C2CD3 SPATA5 CALM2 FKRP NKX2-5 COG1 CYP11B1 NDUFAF4 TRNL1 FGFR2 FGG MOG ASCC1 LEMD3 ACP5 MYMK HADHB ALDH3A2 LAMA2 WIPI2 SCO2 MGP POMK RNF113A MYH6 ALX3 BLM CDKN2A HBB TNFRSF1A FLI1 KIF15 RPGR RYR1 SH2B3 ABCD3 FGFR3 BRAF ABCC8 FXN SUMF1 PITX2 RGR CSF2RB KRT1 PEX14 RAG1 WARS2 ZMPSTE24 ANKS6 CDKN1B FGFR2 TRIM37 PSAP FLNC ABCC8 STAC3 EYS PLN CYP11B1 AICDA ARX PLIN1 SPECC1L TERF2IP DYNC2LI1 ACTA2 PDGFB TRPM4 SLC25A3 CACNA1D NDUFB9 TRIP11 ITGA8 PAX6 SEC23A RUNX1 DOLK HBG2 MMP14 PADI4 RP2 PIK3R2 HNF1A NKX2-5 ATP6AP1 TMEM216 HNF4A CEP41 STRADA CTLA4 ZIC3 KRAS IDS NOTCH3 FOXC1 PET100 EP300 NKX2-5 NLRC4 COX15 SCN10A SCNN1B NODAL GATA4 MBTPS2 DNAJC19 PRF1 NAGA PIGM PMM2 LMNA HLA-DRB1 PAH FOXC2 IQCB1 KRT83 KLRC4 NOS3 SAMD9L MYBPC3 CITED2 KIF1B SLC30A10 TAF2 PLAGL1 PIGY FGFR2 LZTFL1 PDE6A ACE PDE6G ACTN2 MCFD2 PERP IMPG2 GATA3 RBP3 MPLKIP ALDH18A1 HBA1 ROBO4 MTO1 IL7R NDUFS3 ACAD9 HRAS HPS6 NLRP3 GDF6 RHBDF2 ACTB RYR1 IFIH1 JAK2 WT1 POMT2 LIG4 TTN SELENON DBH KCNH1 ITGB3 SPRY2 STAG1 FBN1 EFTUD2 WT1 BCR TNNT2 ALDH18A1 CACNA1S IGF2 NIPBL NR2E3 BLNK ANKRD1 SLC26A3 PCGF2 TMEM126B LIAS EYA4 KLHL7 DNAAF2 CTLA4 CNGB1 HIC1 DYSF CD81 DSP NOTCH1 ATAD3A DBH PRG4 EHMT1 NCF4 SMAD4 AGBL5 TTC37 TMC8 TNFRSF13B PEX12 POR INVS RDH5 MINPP1 PTPN22 ATP7A TRPC6 F13A1 ACTA2 OFD1 TET2 CFAP300 CFHR3 TUBB IGF2 ANO10 CC2D2A TNFRSF13C NSMF SKIV2L SFTPA1 AIPL1 CLN3 SLC12A3 RTEL1 TCTN2 TPM3 GBE1 DDB2 TRNV PIK3CA NPC2 KCNJ8 SMAD4 AP3D1 SGCA IL10 PEX11B RAG1 RBM20 F5 CDHR1 CASP10 CHST3 HAMP SH2D1A GBA ATP6V0A2 ROR2 COX3 C15ORF41 PPA2 SCN4B CYP11B1 CCNQ TGM5 NDUFA4 FH COG6 COG4 LZTFL1 LMNA CBL CFHR1 PLAU COL4A3 DMPK AIRE RNF213 ZFPM2 FANCG WDR35 SAMHD1 NKX2-5 LIG4 WDPCP TSHR COX1 NR2F2 SLC4A1 SELENON PRKACA CD19 FLCN SNX10 MIPEP CYB561 SNRNP200 REN FAH FHL1 ITGA2B CD40 KRT5 FANCB PRNP MAP2K1 PSTPIP1 NPPA KAT6B TMEM216 XIAP ECHS1 HLA-DQB1 SPTB NAGS DCHS1 TTC7A CAV3 APC FGFR2 KAT6B PNKP MRAS JPH2 STXBP2 SALL1 PTPRC VPS33A CD96 FECH PEX12 SNAI2 AP3B1 MED12 TBXAS1 GNPTAB

Protein Mutations 20

C807T D36Y E138K G20210A G98T H295R I349V I843S K55R L33P M235T N155H Q148H R399G R4E R506Q S49G T1405N V34L Y113H

SNP 14

rs1024611 rs11569562 rs11687951 rs13333226 rs2250656 rs28459296 rs3808607 rs4149056 rs4244285 rs6318 rs6841581 rs738409 rs7579240 rs867186

HP:0003124: Hypercholesterolemia

Genes 65

APOA2 RAI1 NUP107 PIK3R5 CEP19 LDLRAP1 LDLR RAI1 LMNA OCRL ABCG8 PYGL APOB CYP27A1 CAV1 TDP1 LMNA COG4 IQSEC2 SLC25A13 EPHX2 CYP7A1 GHR LPL TMEM199 GHR DEAF1 APTX ABCG8 LDLR TTPA PCSK9 OCRL APOC3 CAV3 CETP CAV1 SLC25A13 PHKA2 PHKG2 DGAT1 TDP1 RSPO1 PCSK9 PPP1R17 APOB SLC25A13 JAG1 LRP6 LIPA PHKA2 NUP107 SLC7A7 DYRK1B APOE CCDC115 RAI1 LIPA ABCG5 ALB LPL MEF2A FLII SETX LDLRAP1

Protein Mutations 3

Q14D R3500Q T47D

SNP 5

rs10455872 rs3184504 rs3808607 rs429358 rs7412