SNPMiner Trials by Shray Alag

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Report for SNP rs1024611

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials

1 A Randomized, Double-Blind Placebo- Controlled Phase 2a Study to Assess the Effect of CCR2 Antagonism by MLN1202 on Atherosclerotic Inflammation in Subjects With Stable Atherosclerotic Cardiovascular Disease Using FDG PET/CT Imaging

The purpose of this study is to evaluate the effect of MLN1202 on arterial inflammation in participants with stable atherosclerotic cardiovascular disease (CVD) who are receiving standard-of-care (SOC) therapy.

NCT02388971 Atherosclerotic Cardiovascular Disease Drug: MLN1202 Drug: Placebo
MeSH:Atherosclerosis Inflammation Cardiovascular Diseases
HPO:Abnormality of the cardiovascular system Atherosclerosis Type IV atherosclerotic lesion

The change in arterial FDG uptake from MLN1202 treatment relative to placebo, comparing pretreatment and 3 month post-treatment time points in subjects identified using a dominant model of the snip in the MCP-1 polymorphisms [MCP-1 -2518 (rs1024611)].. null.

Primary Outcomes

Description: The primary imaging endpoint of interest is the FDG uptake, measured as a target to background ratio (TBR) within the most diseased segment (MDS) of the index vessel.

Measure: The change in arterial FDG uptake from MLN1202 treatment relative to placebo, comparing pretreatment and 3 month post-treatment time points

Time: Baseline and 3 month post-treatment

Secondary Outcomes

Measure: The change in arterial FDG uptake from MLN1202 treatment relative to placebo, comparing pretreatment and 3 month post-treatment time points in subjects identified using a dominant model of the snip in the MCP-1 polymorphisms [MCP-1 -2518 (rs1024611)].

Time: Baseline and 3 month post-treatment

Description: Average mean of the maximum TBR in the MDS of the combined right and left carotid artery walls will be measured using 2-deoxy-2-[18F]-fluoro-D-g1ucose positron emission tomography/computed tomography (FDG PET/CT).

Measure: Change from Baseline in Mean Carotid Vessel MDS TBR

Time: Baseline and Day 82

Description: TBR will be measured in both ascending aorta and carotids with demonstrable inflammation at Baseline using FDG PET/CT.

Measure: Change from Baseline in Mean Active Segment TBR

Time: Baseline and Day 82

Description: FDG uptake in the artery wall within the entire index vessel will be measured using FDG PET/CT.

Measure: Change from Baseline in Mean Index Vessel TBR

Time: Baseline and Day 82

Description: The average mean of the maximum TBR and the MDS of the combined right and left carotid artery walls will be measured using FDG PET/CT.

Measure: Change from Baseline in Mean Carotid Vessel TBR

Time: Baseline and Day 82

2 Clinical and Genetic Factors Associated With Drug Resistance of Epilepsy

This study is to identify the clinical criteria of drug resistant epilepsy and to explore whether SCN1A c.3184 A/G (rs2298771) and ccl2(rs1024611) polymorphisms could serve as genetic based biomarkers to predict drug resistance among epileptic patient.

NCT04166305 Epilepsy, Drug Resistant Genetic: Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:
MeSH:Epilepsy Drug Resistant Epilepsy
HPO:Focal sensory seizure Seizure

Drug Resistant Epilepsy: Clinical and Genetic Study This study is to identify the clinical criteria of drug resistant epilepsy and to explore whether SCN1A c.3184 A/G (rs2298771) and ccl2(rs1024611) polymorphisms could serve as genetic based biomarkers to predict drug resistance among epileptic patient.

Primary Outcomes

Description: • DNA analysis: Genomic DNA will be extracted from EDTA-anticoagulated peripheral blood (QIAamp DNA Blood mini kit,QIAGEN). • Genotyping of SCN1A c.3184 A/G(rs2298771) polymorphism

Measure: Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:

Time: 5-7 days

HPO Nodes

HP:0001250: Seizure
Genes 2672
TWIST1 VPS11 CTBP1 SLC1A4 HEPACAM SLC12A6 ELMO2 PHF6 GLRA1 KCNJ1 PIGH TCIRG1 MCPH1 EDN3 MICOS13 SYNJ1 CLN6 PRRT2 IL17F KCNAB2 CHRNA4 ARHGAP31 ARX COX1 SAMD12 TSFM FGFR3 EPCAM POLG CLP1 ATP1A3 PLPBP UPF3B GABRG2 CASP10 KCNJ11 CC2D2A SIX3 MOGS NLGN3 SLC2A1 NDUFS7 CHD2 TMEM138 PCYT1A SLC13A5 NSD1 FGFR3 ERMARD SCN8A ARHGEF6 KMT2A HCCS GLA CCR1 WWOX TRNL1 PRRT2 LAMA2 AUH CNPY3 BPTF NUP133 GABRD HAX1 IREB2 ANOS1 VPS13A B9D1 KCNK4 FAM111A ARX HESX1 NDUFAF6 DLG4 GBA RPIA ZC3H14 ATP6AP2 SCN1A TRNT CAMK2B CPS1 MARCHF6 GNAS BCOR ESCO2 TCTN2 PRRT2 FTL MECP2 DHFR OCLN POMGNT1 KMT2D SARDH TREX1 SLC19A2 HGSNAT SERAC1 SCN8A BUB3 DDX3X NALCN ARL3 AQP2 GABRG2 ATRX AKT3 SCARB2 ARSA KDM6B PLP1 ATP5F1D TBR1 GLA SYN1 FGFR1 FA2H PEX7 LYST NDUFV1 FBXO11 NBAS FAR1 RAB18 FLRT3 ARSA IQCB1 TBC1D20 ROGDI CILK1 ABCC8 MPL SLC16A1 TOE1 MFSD8 FGF8 SALL4 JAM2 SDHA EBP SRD5A3 LMAN2L NEXMIF CPT2 NHLRC1 EEF1A2 MAGEL2 CLPB UFD1 LETM1 TDGF1 HTRA1 KIAA0586 SNORD115-1 ZFYVE26 CTC1 HACE1 RAC1 TBCE ATP6V1B2 SH2B1 RARS1 MECP2 SPTAN1 GPC1 KIF2A CASQ2 COX6B1 MTR SLC9A6 NTRK2 PPP2R5D DNMT3A DCC COX14 TRNW GPR161 EP300 POU3F4 AIFM1 CLTC ALG13 BAP1 B3GALNT2 TSC2 ANKRD11 EXTL3 DEAF1 ITPA SIN3A HESX1 GABRA1 HCN1 HESX1 FKTN PLK4 CACNB4 PIGP ALG9 CRPPA NDUFS6 ZFP57 FGFR2 NFIX IL23R TULP1 PEX12 ERCC3 TSEN54 EFTUD2 FRRS1L UBA5 ATP13A2 SMAD4 PEX5 L1CAM PDHX ATP6V0A2 ERLIN2 NANS BTD GNAO1 ADAR BCR CEP41 PCK1 IQSEC2 IFIH1 ATP5F1A CARS2 DNAJC5 CRIPT PGAP1 MLC1 KCNE1 STT3A STAG2 MSH6 CFHR1 CREBBP OTUD6B TPK1 MN1 POLG CTSA ATP1A2 DIAPH1 DCC UGP2 PREPL SLC25A1 PARS2 ACADM IQSEC1 FKTN IRAK1 MEN1 ATRX CC2D2A MAST1 RAB39B EZH2 GCK UNC93B1 TNFRSF11B ND6 AKT1 CIC VPS53 NSD2 TRAPPC12 FBP1 RAB18 CHRNA7 PEX2 SLC22A5 ASPA HMGCL APP MED12 PPP2R1A LARS2 VPS13B TRNL1 GUCY2D NODAL TANGO2 KCNA1 PRDX1 KCNMA1 PEX13 SMARCE1 ALPL SLC18A3 KIAA1109 MTFMT HECW2 FA2H KCNJ10 USP7 PPP2R1A HUWE1 ARX PTEN ERMARD BRAT1 PIGN PIGT ST3GAL3 KCNA1 RPL10 NDUFAF3 NIPA1 PTEN SCN2A PRRT2 KCNA2 TCF4 HIVEP2 CYB5R3 NUS1 ERCC4 DLL1 QARS1 ATP6AP2 TRNF MTRR L2HGDH FLVCR1 ND6 NR2F1 GNAS MED12 SCN1B POU1F1 PDE6D PAH ASAH1 SDHD CAMKMT DNM1 ABCC8 ASNS NSDHL EIF2B3 GRM1 RTTN ABCC8 SC5D STXBP1 NAGS CHD1 STRADA PRICKLE1 PMS2 PIGM MANBA FKRP MAPK8IP3 TACO1 SMARCD1 POLA1 UBTF TRNF RPS6KA3 NAT8L OTC MSX2 PIGL PDCD10 AVPR2 CPT2 AMER1 ISCA1 GCDH SPATA5 FGFR3 TUBB3 PRDM16 VAMP2 MRPS22 PLA2G6 PRRT2 STX1B FTSJ1 HLCS MANBA MED12 TBCK PROP1 TNFRSF11A ARHGAP31 HNRNPU PIGC SLC9A6 PEX13 COG4 RREB1 PEX11B AP4M1 CAD TSC2 STT3B LBR PAH TUBGCP4 GABRD PHOX2B SCN2A RFT1 ABCD1 GYS2 PEX3 PC NAGA FAM111A FMN2 RET ACTB GLI3 USP18 HTRA2 PEX19 PEX1 PIGP GABRA1 TRMT10A CACNA1A POMK MYO5A RPE65 BDNF CYTB NAGLU COA8 TMTC3 PPT1 POMGNT1 KIF5A KCNJ11 SMARCB1 COQ8A TRDN SP110 HLA-B KCNMA1 PSMD12 PIGW BCOR CNTNAP1 APP FAS CNKSR2 MMACHC TMEM165 MBTPS2 NEU1 MOGS DISP1 FCSK ERCC5 SNTA1 MTHFD1 COX10 LRP2 ADAT3 PEX2 SEMA4A ATP6V0A2 TWNK COG2 BCL11B FGFR3 EEF1A2 NAA10 GLI3 CYFIP2 EIF2B5 PIK3CA TBC1D24 ATIC CCBE1 PRDM8 DOCK7 TRAF3 BCKDHA TOE1 SOX2 TRAF7 MKS1 TRAPPC2L PCYT2 C12ORF4 GMPPB EARS2 ZDHHC9 TREX1 GP1BB RHOBTB2 NEDD4L HPD PIK3CA EPRS1 MIPEP SLC12A3 SLC12A5 GLYCTK PTCHD1 ACSL4 MC1R CERT1 TACO1 TET3 PGAP2 ATN1 SLC6A8 PEX11B BSCL2 HLCS PCNT COL3A1 SLC17A5 ADAT3 LIG4 TRNS1 GBA ERCC6 ALG3 BMPR1A GABRA1 ERCC3 FGFR2 EXT2 SMC3 SLC2A1 SCN3A EPG5 SLC25A22 CACNA1A PIK3R2 FMN2 NDUFV2 TRNP POLG CLCNKB WDR26 BRAT1 IRF3 BRAF CRKL FAM111A CACNA1E NAGA FMR1 PTS LGI1 RTTN STAT4 AP4S1 MMADHC YEATS2 CDK13 TMEM106B GABRB3 TBCE CBS PIGO HRAS ATP6 SNAP29 ADAMTS3 PIGL ACSF3 PAK3 OAT CERS1 GLI2 STXBP1 L1CAM CDC42 TMEM67 TBX1 SLC25A15 CD96 CNTNAP2 GMPPB MLH1 DPH1 MPC1 CYP27B1 RPGRIP1L SETD5 OTUD6B TUBB2A MECP2 BMP4 PRPS1 ENG KIF11 POGZ PHKG2 DDOST NMNAT1 ND4 MGAT2 PPP2CA PRNP CNTNAP2 KCNT2 SCN11A ASXL2 KDM5C PEX10 ACY1 DHCR24 DHX37 PIGW DMD TMEM106B SNRPN SLC35A3 TBC1D24 FRRS1L CHRNA2 FOXRED1 TRAPPC4 PEX6 MTFMT AKT2 CDK10 SCN1A RNU12 PHKA2 RNASEH2A KCNQ3 PERP ETHE1 CBS UPB1 TRNV PSAP NDUFB11 SLC25A19 PDE10A AHI1 SMARCE1 ZSWIM6 TMX2 KIF7 ANKRD11 CACNA1D CUL4B NDUFB11 ANKLE2 BUB1B SYNJ1 GM2A CALM2 TDP1 SCN3A AMT CRX RNASET2 MCCC2 TBCE FAT4 KDM6A RPS6KA3 CLIC2 CFHR3 OSGEP SNX14 SMS PIGY NDUFS1 TMEM231 LIPT1 SOX3 HTT ALDH4A1 SUCLA2 EIF2B4 PSAP JAK2 NARS2 SURF1 CDKL5 TREM2 NOTCH3 NUS1 SPTAN1 NUBPL NDUFS8 NADK2 GSS GABRB3 DPM2 GABRG2 ATR RRM2B GNAQ ADGRV1 TRNC CLIC2 TSC1 CACNA1C FGFRL1 FUT8 DPYD GDNF PDP1 TBX1 WDR4 SYNJ1 HADH JRK ADD3 CDKL5 ALG11 ACY1 CHRNA7 ZNF592 TRAK1 XPC PPP3CA KANSL1 NDUFAF8 AIPL1 ERCC8 AP4E1 SLC5A7 PHGDH HRAS TRNQ TRIP12 CYP27B1 IL1RAPL1 RARS2 CACNA1C GABRA2 KMT2A GPSM2 KDM5C MTOR DIP2B TBCD SCN10A COL13A1 DOCK6 ZC4H2 LRP2 PEX1 ALG3 GCH1 CLCN2 UFC1 SIX3 WWOX NRAS DNAJC6 PLAGL1 NTNG2 NADK2 MLYCD AKT3 RPGRIP1L DLL4 MBOAT7 RERE UQCC2 ROBO3 CTSA NDN MAPK1 GCK LAMA2 CTU2 MBOAT7 LRPPRC TRAPPC6B ASPM HNRNPH2 XPR1 TRNS1 GAMT GRM1 TBC1D24 CCDC141 CPLANE1 PUS3 TSPAN7 CCDC141 KAT6A PTPN22 RAI1 SPP1 STAMBP HLA-DPB1 PRRT2 TMEM216 DHDDS RDH12 CDON FARS2 PPA2 CLN3 ASXL3 TRNS1 SRPX2 TECPR2 ARX ROBO1 TWNK ARSA TRNH NAGS PEX11B PIGV PEX6 CEP290 MED12 CACNA1A TMEM237 CRADD RPL10 DARS2 MYO9A PEX14 RNR1 PROP1 GPT2 IL12A PRF1 DMXL2 SLC6A5 FCGR2B TUBA1A SCN10A FAR1 GTPBP2 KCNQ2 MMAA CAV3 PEX12 SGPL1 METTL23 MOCS2 GRN CC2D2A ZNHIT3 DHCR24 FIG4 GABRB2 ABCC8 GCDH ARNT2 NSDHL NDUFAF5 NDUFA12 ADA2 NSD2 FRMPD4 SDHA CACNB4 TBL1XR1 LNPK NECAP1 MTOR NPRL3 KCNQ5 POMK CLN6 ALG1 KCNJ11 SLC25A15 FUCA1 VPS11 COA3 ARX HESX1 SUCLG1 MTM1 VDR PRSS12 ERCC6 GUF1 AP4B1 CNTN2 CDKL5 CHKB TRMT10A STXBP1 NELFA RXYLT1 NECTIN1 COX1 TBX1 CLP1 NSUN2 SLC12A5 DNM1L TRRAP RAB11B RPGRIP1L RSRC1 ASH1L ST3GAL3 PCSK1 PRTN3 EMC1 CCDC115 WDR81 DPM1 ZEB2 PCDH19 SLC35A1 CNNM2 PCDH19 PROKR2 PTS KCNA2 TARS1 ZNF711 FLVCR2 ALMS1 COX15 SYNGAP1 SON ATP8A2 STX16 OCLN KDM6A TUBGCP6 GATA6 NDE1 FGF17 GDI1 LHX4 GRN ARG1 RNASEH2C IL17RA COQ6 WDR45 CDKL5 NSD1 ERCC2 GPT2 BUB1 SYP COX2 COX20 RAB27A GPHN USP9X ANKH HDAC4 PPM1B GLS DOLK KCNQ2 IARS1 COG2 FAS IPW SNORD118 SLC2A1 PYCR2 ARFGEF2 CPLANE1 ARX DOCK6 GLUD1 PEX2 ASAH1 SCN2A SON STT3B PRKAG2 SATB2 TECPR2 MFSD2A FKRP BRAF OPA1 USP45 DEAF1 ACO2 KCNE2 GBA NALCN KCNE1 SCO1 NDUFAF6 ARID1A ADRA2B ALDH7A1 ATP6V1A SLC46A1 DLG3 SLC1A3 RANBP2 KAT6B ABCA5 FGFR1 CRADD LSS ACTL6B FTSJ1 CDH15 ALG11 KMT5B CSF1R TREX1 TRNP LINS1 EGF CPT2 CTNNB1 HADHA COX7B RAB3GAP2 SETD2 PET100 SAMD9 DBT GNE GLI3 GP1BA ARX CASK COG8 WDR11 CENPE ATP1A3 PDCD10 RFT1 SCN9A CSPP1 SLC25A20 NRAS GNAO1 CXORF56 GNAQ WARS2 AUH ALDH3A2 ECE1 PEX10 HIBCH UBE2A SIK1 SERPINI1 CPLX1 NTRK2 MYO1H SLC2A1 CC2D2A COX3 GABRB1 LAMA2 HCN1 ATRX TRNI ZIC2 PGK1 KAT6A MECP2 MYORG SUCLA2 TDP2 CTNNB1 KCNH1 HDAC8 NIPBL ASXL1 DCPS KATNIP PTRH2 RSRC1 ANK1 CDKL5 CA8 ALDOB NDUFAF5 LETM1 AVPR2 GRIN2A CNNM2 INS SLC13A5 PIGC MBTPS2 TWNK ABCC8 TRAF7 PIGN GABBR2 APC2 STARD7 AP2M1 PIGA AIFM1 TPRKB MORC2 CAMK2A TP53 PMPCB ATN1 GAD1 CDH23 EBP GTPBP3 ASXL3 HUWE1 KRIT1 AMPD2 ANO10 NOTCH2NLC PROKR2 KCNQ2 WAC TREM2 NIN DPYS TRIM8 ASXL1 MYO5A TXNRD2 MECP2 SLC19A3 HMGCS2 PNPO TRNN FBP1 HERC2 SLC46A1 ANK2 NOTCH1 IER3IP1 ADAMTSL2 TSC2 CYFIP2 CTNND2 TRAF3IP2 VCP FAN1 PUM1 PLA2G6 ZNF423 NDUFAF4 DPF2 NDUFAF2 TYROBP NSUN2 CUL4B EFTUD2 AIMP1 MBD5 TWNK NNT CCDC88A SCN2A PROK2 TICAM1 GNE TERT ACVR1 KLLN ENG TTR DNM1 ATP6V0A2 INPP5E TRNF XPA SORL1 LMX1B PSPH KCNJ5 GJC2 OCRL USP27X PPP1R15B PIGT KIF4A MC2R PNPO KCNN3 ARHGEF9 SRPX2 DHCR7 PDE4D ATAD1 TK2 OPHN1 GFAP RASGRP1 PSPH POGZ ANTXR1 PSEN1 AP4M1 NDUFA1 KCNQ3 PTF1A PCDH12 ADGRG1 KCNH2 TMEM237 KIF7 SCN9A EHMT1 IBA57 HCN1 KIAA0753 GNB1 DNMT3A KLF13 LARGE1 RPL10 NNT HNF4A PQBP1 ARG1 FRG1 FOXG1 GRIA4 CTSF NDUFA2 SLC3A1 ATXN10 CEP290 ALPL GLS ANKRD11 GLI2 JRK TRAPPC9 TUBB3 CRLF1 FOXA2 WDR73 KAT6B PLCB1 MPDU1 SDHA WDR4 TP53 PDX1 POMK PACS1 PIK3CA TP53RK KRAS TIMMDC1 GOT2 ND5 KRAS SET SPAST SLC1A3 PPP3CA NDUFS3 AP4E1 FBXL4 PEX13 WHCR SMARCE1 MAPRE2 TRIO METTL23 STX1B TGDS HMBS ERMARD ATP6AP2 HCCS TREX1 RELN DNASE1 ARF1 DPM2 GLRA1 PSEN1 USF3 CCNQ STUB1 FKTN ATIC USP9X ND5 SLC35A2 ANGPTL6 B3GALNT2 CAMTA1 PEX16 PEX3 NDE1 PIGA CHD7 ZNF142 EIF2AK3 ENG SCN1A RAB39B ARF1 UBA5 SIK1 USP9X KRIT1 MBTPS2 CLEC7A BTD SLC25A42 KPTN KCNQ2 PEX14 MAP1B ERLIN2 JAM2 WDR73 TRNK FGFR1 LMNB2 FUCA1 TUBA8 GNB1 PROKR2 KMT2D FGFR3 CAMTA1 GLB1 SLC6A8 CHD2 CLCN4 LMAN2L TSC2 NKX6-2 KCNJ13 POMT1 CHRNB2 TOMM40 SGSH SLC13A5 B4GAT1 ARID1B PTEN RUBCN SCN8A SCN8A TCF4 GPC3 SASS6 MEFV NDUFV1 OSTM1 CTLA4 DEPDC5 CLTC KCNQ1 ATRX ADSL BOLA3 SETBP1 SLC1A2 MED25 SLC2A1 TSC1 TRAK1 ATM KCNH1 FXYD2 MTRR RNASEH2A PEX1 TUBA8 ADGRV1 NFIX DHDDS DHPS ND4 PROC MLH3 LGI4 MSH2 RNF213 POLG2 ATP7A ALDH7A1 KCNQ3 MEGF10 TWNK EEF1A2 CFH ATP1A3 COL3A1 MTHFS PAFAH1B1 WDR45 ABAT GJA1 AKT1 SDHB ARX TRNL1 SLC2A1 DYNC1I2 EGF RNF113A SETBP1 RAI1 ANK3 HIBCH SLC35A2 TFAP2A L2HGDH PTCH1 KCNH1 PIGQ DLD INPP5E GATAD2B PDSS2 HDAC8 CKAP2L KCNH1 PEX12 PCCA CLDN16 PEX10 NEK1 HADH NUP107 CUX2 GABRG2 MAPT CACNA1B TRAPPC12 TIMM50 SMARCB1 COX8A NRAS ARX KCNT1 STX11 AGA YWHAG SEPSECS RAD21 TBX19 NEDD4L C4A CASK MBD5 ALDH18A1 PURA FLCN RPS6KA3 EXOSC9 SLC39A8 SCN8A MMACHC PSAT1 COL4A2 BCS1L SLC25A20 PSMB8 DSTYK EIF3F KLHL7 LAMB1 WFS1 PEX12 TRAPPC11 CUX2 TRAPPC9 VARS1 GEMIN4 TCTN1 NDUFA11 TSEN54 TAF1 CRB1 KISS1R TPP1 ASCL1 MED23 OFD1 NTNG1 PDGFRB HYMAI ALKBH8 TRAPPC11 SSR4 OCRL PIK3R2 ARL13B ACTL6B SUFU ALX4 FAM126A SCN1B ATAD3A HSD17B4 KCNB1 ACAT1 PMM2 CEP104 AKT2 ND5 COG8 LARP7 TUBB2B TP53 SDHD LIAS NF2 FAS NPC1 AP4B1 GAMT PIGY COL18A1 KCTD7 CEP57 PSAP ETHE1 NTRK2 AGRN TUBB4A CLN5 POLG ERCC6 SMO SELENOI CPT1A NSD1 TK2 CTLA4 MACF1 HNF1A GRIN2B GPHN C12ORF57 PRDM8 TGFB1 SUMF1 OFD1 DGUOK ARMC9 POMGNT1 POMT1 SNRPN GALC PHF6 GCK COG6 ERCC2 COMT POMT2 GABRA1 STAT4 PEX5 PEX26 RAB27A PLAA ERAP1 MAFB GJC2 SOX5 NEU1 IVD KDM5B GTPBP3 NOTCH1 PPP2R5D PTH PDSS2 HIRA KCNQ1 TBCK PEX19 AKT1 PLA2G6 RNF125 GCK CPLX1 WFS1 PMS1 RAC1 TMEM94 ATN1 GNAO1 MAN1B1 TRNF SEC23B MICAL1 ZNF41 RERE ALX4 DNAJC6 IRF2BPL TBC1D24 HLA-B SDHD CYTB TRIO PROKR2 NAGA COL18A1 DDB2 ERLIN2 TRPV3 MEFV GATA4 C11ORF95 SYP NDST1 PACS1 NDUFA10 BCS1L SCN9A PLAGL1 GLRB NDUFS1 KCNC3 NTRK2 ND3 EIF2B1 MYH3 SLC9A7 ELOVL4 CEP164 SLC12A1 RYR2 SOX10 ND6 PWRN1 MED12 RPS20 CLPP SRPX2 FGFR2 KMT2A AGA GABRG2 NOTCH3 FGF12 PIBF1 IQSEC2 SLC13A5 ARID2 BCKDK NDUFA4 SLC35C1 CRBN PAH EIF2S3 ABCC8 PGAP1 SCN1B PDHA1 KCNA2 LMBRD1 MMADHC DNM1L AMACR ADA2 PMM2 ITGB6 TRNL1 HDAC8 MTO1 ALG2 GABBR2 PEX16 HSPD1 SLC33A1 OTX2 ARMC9 GNB5 TRIT1 ND1 ALAD C9ORF72 SCN2A OSTM1 PIK3CA CSNK2B DHCR7 RAB3GAP1 KMT2E BCKDHB GLUL TREX1 MGP SCN3A AMACR IL17RC PSAP ATXN10 NDUFB8 CCM2 SLC1A4 CCDC88C TCTN3 NF1 RECQL4 NGLY1 PEX16 SARS1 POLG KRAS TRAPPC11 ADSL SETBP1 ERCC5 TBX19 KRAS PGAP3 NDUFA13 GRIN1 TDP2 RNU4ATAC COQ8A TBC1D24 B3GLCT RAI1 HCFC1 KCNT1 ERCC1 COX7B GYS1 MEF2C NEUROD2 WASF1 POMGNT2 ARSA MEF2C PIK3CA CLCN2 NCAPD3 ND1 GALC CILK1 HS6ST1 PSAP SLC6A19 ALDOB SCN1A LAS1L SLC45A1 CNPY3 ARFGEF2 ND1 RELN LAGE3 COQ2 GAL HNF1B NAXD ATP1A1 SLC39A8 COX10 PIGG MC2R NACC1 DCX GABBR2 BCORL1 SLC25A1 POMC PSAP PRKDC PDGFB ADPRS ALG9 FKTN TBCE SLC12A6 FLNA MARCHF6 CASQ2 GBA NFASC UBE3A GNAS IKBKG PHOX2B HMGCL KCNJ11 TAT TGFBR2 AFG3L2 MED17 SIK1 CPA6 MECP2 SMPD1 NHLRC2 MYH14 HADHA SCN1A LARGE1 KCNQ2 INSR SPR SDHAF1 IKBKG POMT1 HCFC1 POLG POLE GLDC HEXA WDR11 POLG2 WDR45 EXTL3 TRNS2 PAFAH1B1 NDUFS4 UBA1 HS6ST2 GK SIN3A BCOR HTT PIGO POMT2 ASS1 TLK2 BCAP31 ARX POMT1 UBTF NONO COA8 ACTG1 GRIN2D CLPB SCN5A NDUFB8 THSD1 CASK TYROBP ARID1B ACSF3 GRIK2 TBK1 TREM2 TNIK BAP1 CRLF1 MMUT APP CEP41 NONO CDK8 CPA6 IFNG PQBP1 YWHAE MED25 ATAD1 SLC6A1 PTEN MEN1 MPDZ KIF15 GRIN2A ROGDI PEX5 TACR3 PSEN1 IL12B ACTG1 RNU4ATAC ACADSB ZNHIT3 GRIN2A PIGL NPRL2 ATM PIK3R2 INS SURF1 L1CAM CHD1 PRPS1 KCNQ3 PIGV STXBP1 FMR1 SMC1A RPGRIP1 ALG13 AKT1 FH GBA PACS2 PUF60 SLC35A3 DIS3L2 TSEN15 SMARCB1 SQSTM1 PGM3 DUSP6 ALG1 FOLR1 ERCC2 PDHA1 RUBCN TBC1D24 TBCE FLII JAM3 RANBP2 TBK1 FRMPD4 PNKP B3GALNT2 NDST1 SNORD116-1 NSMF DOCK7 ABCA7 NDUFS2 GLI3 EXT2 EOGT CHAT TSC1 ARL6IP6 ATP6V1A HMBS HIC1 GP1BB DLD F8 CXCR4 TRNK ATP2A2 TBCE MAN1B1 GATA6 GABRD POMT2 ADK SLC20A2 TBCD GRIN2B COLGALT1 PEX10 AFG3L2 SAMD12 APP NACC1 RAPGEF2 COG4 SMARCA4 SLC25A22 WDR73 ATP6V1E1 OTX2 OFD1 GABRA5 DPAGT1 KCNJ10 CNTN2 PSAP ABCC8 MTOR NUP133 SPINK5 PLPBP CENPJ CYP2R1 POMT2 HPRT1 TXN2 IFIH1 NDUFS7 HYLS1 PRKCD SETD2 PIGG AARS1 NDE1 SCN1B ABCC9 SCN1B FCGR2A ATP1A2 LAGE3 GNAS RELN TBL1XR1 CTH TRAPPC11 FEZF1 PLAA ZNF81 NOS3 PHACTR1 RD3 EFHC1 HACE1 GLE1 HEPACAM TMEM231 MPLKIP PDX1 KLHL15 CPT2 STS GPHN EFHC1 FOXG1 EFHC1 NLGN4X SUOX KCNJ11 ARX MYO5A COG7 STXBP1 LARGE1 KIF11 IFT140 IL12A-AS1 CNKSR2 ARID1B SLC6A19 FOXH1 STAG1 SCN1A RELA MLX PNPLA8 SLC1A2 PWAR1 PCCB GMPPB ECHS1 ADAM22 CPLX1 TDP1 CASR UGT1A1 THPO ATP6V1B2 SMC1A STAT3 RAB39B FGF8 GRIN2B BMP2 TRNT1 DBH EPM2A SCN9A ALG2 TRNK DYRK1A UFM1 BRAF FKTN TRNK SOX11 PET100 KLRC4 SLC17A5 ATP5F1A TRIP13 NDUFAF2 ZSWIM6 PIEZO2 GUF1 CRB2 PEX6 KIF1A ACVRL1 TELO2 KIF1A EML1 HSD17B10 WDR26 PRNP KCNB1 FADD FADD SNIP1 DENND5A SHANK3 SCO2 NDUFS2 PLK4 SLC25A22 CLIP1 SMARCA2 PSEN2 TMTC3 MRAP SPG11 USP7 MGP TLR3 TSEN2 CAMK2A GCM2 FLI1 NF1 GYS2 GPC4 LIPT2 GJC2 ANK3 GAS1 TMEM70 ALDH5A1 FASLG COX3 ASL STRADA MTHFR CNKSR2 UNC80 MCTP2 AP3D1 PEX1 COQ4 PIGN LARS1 EMG1 ARVCF FBXO31 MED25 MID2 CKAP2L PRUNE1 NFKB2 INPP5E TGIF1 KRAS IQSEC2 SKI COL4A1 SZT2 SDHC RBPJ AAAS MED13 FOXRED1 CCM2 GALC KCTD7 CISD2 TRNQ AQP2 EXT2 PODXL DHX30 RNASEH2B IL1RAPL1 GBA GMPPB TBP NRAS PTCH1 HERC1 AHI1 QDPR MAF COQ9 PNKP SMC1A PEX1 AVPR2 PEX16 KPTN SLC2A1 SPTBN4 STAG1 FGF12 SLC19A3 TBC1D23 CCND2 VLDLR STAR PRODH PEX5 RBM10 PEX19 PSMD12 SDHAF1 GABRG2 LCA5 XPR1 GJA1 MYRF PRRT2 SNAP25 TSC1 MID2 MEIS2 NDUFAF3 DPM1 MCCC1 FOXP1 SOX10 IQSEC2 ACOX1 NDUFS8 ACTA2 FGFR1 ATP7A GRIA3 TXN2 KCNA1 KCNMA1 SZT2 PEX6 XK OPHN1 GDI1 FBLN1 JMJD1C MECP2 INSR ST3GAL5 TCF20 GRIA3 ZBTB18 TMEM70 ZBTB18 AARS1 WDR62 CEP120 IVD TMLHE TBC1D20 TRNS2 PEX5 OSGEP AUTS2 UCP2 PPOX PSAP AP3B2 SMS EPM2A YWHAG NAA10 CHD2 IDS SMARCB1 COL1A2 ND5 PRODH NFIA TRNH ECM1 MSX2 SLC19A3 BUB1B EPG5 EHMT1 CDH11 SOX4 GABRD POMT2 ELP1 KCNMA1 CARS2 TRNS2 RAB39B ASPA MVK ARHGEF9 MFF NDP SCN2A LMNB2 ARID1A CSNK2A1 TBC1D24 SETD5 POLR3A CPT2 PYCR2 PCDH19 TRNW TBX1 TUSC3 B4GAT1 CCBE1 KCNJ6 CPT1A PPP1R15B GBA AIMP1 NDUFA2 TUBB2B POMC ALG6 ALDH3A2 PIGS DHDDS TMEM67 CLCN4 DDX3X TRPM6 AHDC1 CPOX EDC3 GMPPA NIPA1 GBA NGLY1 GNAQ SEC24C NEUROD2 NSUN2 MAGEL2 MECP2 ATP6 FGFR2 FTO HCN1 SLC2A1 SYT2 NDUFA9 SPRY4 HADHB SLC25A12 MAP2K1 PRMT7 SLC25A4 SYNGAP1 PGAP2 ADGRG1 ACADM LRAT SMARCC2 PAX2 SHANK3 TRMT1 CTSD VAMP1 TMEM237 SMARCC2 FGFR1 PEX19 SLC25A13 CTNNA2 CPS1 SHROOM4 ZBTB20 TGFBR3 POLR3A ASPA RORB UPF3B PARS2 NIN SMG9 TRNQ HERC1 SURF1 DPAGT1 LHX1 ARV1 SETBP1 ATP6V1A CLCF1 CDON EFHC1 PLEKHG2 NIPBL INPP5K NF2 GTF2H5 GMPPB RRM2B KIFBP HADH PEX26 COQ2 GNS PHGDH CACNA1H KCNC1 NPHP1 PEX5 ACVRL1 TUBG1 SMARCA2 BSCL2 INTS1 ACTL6B SLC6A1 PLCB1 IL17RD SCN2A ADNP LONP1 SAMHD1 PEX26 NOS1AP NPAP1 CALM1 GRIN1 SNX14 TRIP13 CRBN CNOT1 HTT TP53RK CDK5 P4HTM VARS2 EIF2S3 FAM149B1 SMC3 B9D2 GTF2E2 CLN8 ACOX1 ALDH18A1 GCSH CASK LINGO1 IDH2 XPNPEP3 MDH2 NECAP1 AIMP2 CSTB AP4S1 FARSB NPC2 FRA16E RERE NRXN1 GPAA1 TMEM67 CLN8 TAF1 TRNV CHD8 ATP6 KIF5C CYP27A1 PCLO FARS2 CYB5A NEK9 MECP2 PEX13 POMGNT1 UGDH UBAC2 PAK1 DCX POLG AKAP9 TSEN54 SARS1 PRMT7 UBE2A SSR4 GLUD1 FKRP RPS6KA3 CHN1 EXOSC3 CC2D1A PDGFB KMT2C ATP6AP1 CEP120 UBE3A TLR3 PEX26 SMARCA4 NDP SLC45A1 KCNJ6 ST3GAL3 EIF2B2 MOCS1 GOSR2 NDUFB11 TRNK PEX2 HLA-DPA1 AP3B2 TLR4 TCF4 EZR PSAT1 TRAPPC9 SHROOM4 RMND1 KATNB1 STXBP1 NUS1 GPAA1 MAF ADNP MKRN3-AS1 AASS TANGO2 SPATA7 TRNL1 TBC1D24 GRIN2A PEX3 DNM1 ATP6V1A TUBB2B GRIN2D PEX14 FAM149B1 GDF6 CLCN4 SC5D ACADS COX2 PANK2 SDHA GRIK2 MVK FLI1 LAS1L GDF2 GNAS IMPDH1 DEGS1 FLNA PTEN NUP214 GM2A STXBP1 ALDH5A1 DNASE1L3 THOC2 UNC80 FKRP FGFR3 IL10 FLNA RORA ISG15 PEX6 SPR SHH COG5 COL4A1 PTCH1 D2HGDH SH2B1 BRAF CYP26C1 CDC42 BCL10 NHLRC1 SOX10 CLN8 TSEN54 VPS13A ARV1 STT3A ASAH1 ATAD3A COX15 AGTR2 CEP290 PHACTR1 VPS13B VLDLR LAMC3 HERC2 GLI2 CACNA1D PTPN22 TWNK TRDN TRNW MKRN3 ARCN1 ARX GLRX5 GABRB3 SCYL2 CLTCL1 SYN1 PROK2 NEXMIF SLC12A3 PHF21A CYP27A1 TUBGCP6 ARNT2 ABCA2 HNRNPU DLG3 NDUFS4 GFM1 GABRB2 HNMT GUCY1A1 DNAJC19 PAK3 SIK1 DAG1 WASHC4 NAXE OTX2 SIK3 MSX2 SDHB AHSG TMEM216 CACNA1B PEX14 MPDU1 YEATS2 RBM8A PEX3 SCN4B FA2H DEAF1 ND2 ARHGDIA GABRB3 TRNS1 GATA3 AIP SEMA3A GP9 LYST IQSEC2 DYNC1H1 CHMP2B CDH23 WWOX SUFU LHX4 TECR HYMAI SMAD4 MAN1B1 PHOX2B MAPK10 ECM1 KDM6A PLA2G6 PGAP3 SPATA5 MKS1 ACTB POLA1 ALG13 AP1S2 CD96 CIT
Protein Mutations 1
A147T
SNP 5
rs1024611 rs1360780 rs222797 rs2297201 rs2298771
HP:0001626: Abnormality of the cardiovascular system
Genes 4136
TWIST1 KRT14 ELMO2 SDCCAG8 KCNJ1 TCIRG1 MICOS13 MTAP RAG1 INSR ELP1 KCNAB2 TSFM HEPHL1 RNASEH2C CD19 EPCAM DNAH1 NF1 EYA4 SIX3 ASAH1 LORICRIN CTSB NDUFS7 GPR35 TMEM138 MFAP5 CYP11B2 GNA11 SHOC2 RDH12 HCCS SF3B4 GLA CC2D2A CCR1 PIEZO1 ATP8 TRNL1 CCR6 TTC7A PTCH1 DSP EPHB4 ANOS1 CALM1 B9D1 F5 ERCC3 MPIG6B TTPA FHL2 GBA CFI ALAS2 ATP6AP2 ROR2 COQ2 CLCNKB BSCL2 HPS4 SLC7A14 PIEZO2 IFT43 GBA BCL2 PHYH SLX4 INSR OCLN CHRNG ACADVL SARDH PAX8 TREX1 SFTPC NSMCE3 SLC19A2 SFTPB NFIX RPGRIP1 KRT5 IGFBP7 AQP2 AKT3 DYNC2I1 TRIP11 RPE65 KDM6B TNNT2 BRF1 NBAS RAI1 FOXF1 PHGDH FLRT3 F11 EVC2 WT1 COL5A2 ZFPM2 SDHA EBP CHCHD2 TNNI3 ATF6 UFD1 LETM1 NDUFAF3 DDC TDGF1 HTRA1 MEGF8 TMEM126B HNRNPA2B1 ACTC1 SDHD SEC61A1 ICOS ZFPM2 CD3D IRF5 GPC1 FOXJ1 FANCE CHRNG JAK2 PCCA GANAB PPP2R5D DNMT3A DCC POU3F4 ANKRD11 EXTL3 DEAF1 TAF1A MMP2 VWF PYGM HESX1 HLA-DRB1 ACTG2 MIB1 TWIST1 SMAD4 WNK4 PEX12 ERCC3 LBR ALPK3 SMAD4 MAFB C8ORF37 F2 ATP6V0A2 SOS2 LEP BRCA1 CEP41 GP1BA GJC2 FBN1 CERKL DOLK KCNE1 MSH6 CFHR1 CREBBP OTC OTUD6B POLG DNAI2 PLG SH2B3 PKD1 ACADM BCR MITF IGLL1 IRAK1 ND6 TERT NSD2 PPOX FBP1 LEPR PEX2 HMGCL ATXN7 RPS17 MYL4 FOXP3 SLC25A3 VPS13B PRPF4 NODAL FLT4 KCNA1 PEX13 SMARCE1 TTC8 NKX2-1 MTFMT MEOX1 NAA10 TGFBR2 NDUFB3 XYLT2 PBX1 CDKN1C MTTP CD244 PIGT PKD1L1 NDUFAF3 H19 LEMD3 ABL1 CFTR PYGL CYP1B1 CHRM3 LMNA CDC45 CCDC114 HGSNAT ADA HLA-DRB1 RAF1 DCHS1 TAPT1 NLRP3 DLL1 ND6 EVC2 RP1 RECQL4 POU1F1 CST3 CTSH SDHC ASAH1 SDHD NLRP12 ABCC9 SOX4 KCNJ2 XPC PRDM16 ACSL4 MNX1 MYO18B RTTN MCIDAS ABCC8 STXBP1 DTNA GDAP1 NPHP3 PIGM A2ML1 NUP188 POLA1 GUCA1B GUSB TRPC6 OTC ND3 COG7 PDCD10 C4A AVPR2 CD79B APOE AMER1 MYOT FZD2 PLOD1 HLCS MED12 PROP1 CANT1 MYF6 TNFRSF11A ARHGAP31 PRKCSH KCNH2 PDE3A ORAI1 KCNQ1 SMCHD1 PDE6B TMEM237 SDHC KCNQ1 TSC2 CFTR PEX7 C1QBP WWOX CFAP298 SCN2A NAGA CYB561 PRDM16 MMUT WNK1 ABCG8 ALG12 GLI3 HGD NDUFS1 CALM1 BLM TBX5 GALNS COL4A3 SOX10 ZBTB16 CYTB ANTXR2 NAGLU PPA2 TMTC3 SDHA DYNC2I1 FLT1 FLT4 HCRT CCDC39 ARMC4 HLA-B ABCA3 BCOR POR COL1A1 APP FAS TPI1 MBTPS2 NEU1 APOA5 MMP21 PRG4 JAG1 LRP2 MYH7 FLNA F13A1 PTPN22 TWNK KRT14 KYNU COG2 NAA10 MYL3 CENPF RYR1 FLNC VPS35 SOX2 TRAF7 GATA4 SDHA ATP7A ZDHHC9 TREX1 KCTD1 TRIM28 POLH CYP7B1 PIK3CA BBS12 SLC12A3 MVK MYOT GFI1 CYP11B2 TAZ TACO1 TET3 IGH ATN1 COL4A4 KIAA0586 WT1 RRM2B PSMB9 C3 MAPT TRNS1 NFKB1 HFE GBA BMPR1A ERCC3 TET2 HLA-DRB1 MFAP5 EPG5 KYNU PIK3R2 HADHB APC XIAP CLCNKB BRAT1 CDC73 MS4A1 BRAF FAM111A NAGA TET2 FMR1 APP ND2 MIF SCN5A STAT4 GFI1B BBS7 CDK13 UQCRFS1 GJB2 TPM2 HRAS UROS SNAP29 ADAMTSL4 RAD51C GNPTAB SDHB HBA2 CDC42 TRNL1 IDUA TBX1 POLE CD96 CALR LMNA GMPPB DPH1 OFD1 OTUD6B ITGA2B CAV3 LZTR1 TRAIP GGCX IL2RG DCTN1 CYLD ENG DSG4 CACNA1C POGZ PHKG2 PDE11A TFAP2B ND4 FAM161A MGAT2 WDR19 PARN IDH2 ASXL2 SMAD4 NR3C2 USP45 PRKAR1A KDSR GPI FBN1 VCP HELLPAR FASLG NR0B1 ABCC9 DMRT3 FOXRED1 HOXA11 KRT1 CDK10 POLG MERTK RPGR HBB CFHR1 SCNN1G ETHE1 CBS HLA-DRB1 TRNV PSAP TGFBR1 SLC25A26 NDUFB11 AHI1 CD46 RRAS IARS2 KIF7 MAT2A IFT172 CALM2 ATP2C1 GALE CCN2 WNT10A TBX3 RPS6KA3 B4GALT7 POMT2 OSGEP ROBO4 RSPH1 TMEM231 LIMK1 PDE6H LBR MINPP1 MRAS PRRX1 PSEN1 LMNA JAK2 HLA-DRB1 AFF4 PDE6A NOTCH3 DNM2 CNGA3 ELN NDUFS8 CTSK COL1A2 LMNA GBE1 RRM2B ATP6 POLR1A GNAQ SYNE2 ADA2 CACNA1C EPB41 HSD3B2 NRAS DNAH9 FAM13A SALL4 HADH DNM2 CHRNA7 NSDHL XPC DMD NDUFV2 GATA1 SHOC2 AGK TNFSF11 ROR2 HMGA2 LRP6 TNFRSF13B TRNQ PROS1 CDKN2A POLR1D COX3 XYLT2 MYH11 COQ2 AGK GATA4 TNNT2 MTOR SRCAP MYMK B2M DOCK6 LRP2 MYSM1 MGMT CTCF AGL TOP3A F2 NDUFB10 FRAS1 SCNN1A IRF5 ABCC9 SDHD NRAS SOX2 TECRL SKI NBEAL2 GP1BB CORIN ZNF365 C1R PRKAR1A CTSA H19-ICR B9D1 LAMA2 EXT1 INPPL1 AGT XPR1 UNG SLC25A4 NKX2-5 DST FIBP PIK3CA DNAAF6 LMNA SCN10A FOS CCDC141 CPLANE1 CCDC141 JPH2 HFE KAT6A VEGFC JAK2 STAMBP FGFR2 LEMD3 TMEM216 PPA2 CLN3 LMX1B TRNS1 ANK1 LMNA SDHC PEX11B MED12 PCCB TMEM237 ALG10B IL12A PRF1 KCNJ2 FLNB FCGR2B RHO HAND2 KCNQ2 KIZ CLCN7 CC2D2A SMAD3 IDUA ABCC8 ADA2 DSP TMEM43 BBS9 NABP1 NLRP1 TCIRG1 SKIV2L HCN4 FERMT3 ENPP1 MTM1 LZTFL1 WNT10A MGME1 TNNC1 DNAJB11 CHKB BRCA2 NELFA NT5E COX1 TBL1XR1 GJB4 CCND1 NR2F2 TRRAP ZFPM2 RPGRIP1L PROM1 RYR1 PYCR1 RYR1 DNAI1 DNAH1 DPM1 CYBB ND6 SNAI2 TARS1 ALMS1 ELN HJV PNPLA6 DMD KCNE1 F10 RAG2 TERT STX16 COL5A1 FGB NUP107 KIT GATA6 PLP1 ATP6V1E1 CA4 LHX4 DPP6 STRA6 PIEZO1 FBN1 PSMB4 PCARE LRRC6 ABCC6 SUFU COX2 DNAAF5 WNT4 RET STOX1 SCNN1A IRF5 LTBP2 TFAP2B USP9X INTU HDAC4 SPECC1L CTNS MGME1 TTC8 FAS CYP11B1 SLC2A1 CPLANE1 CCDC151 SPAG1 GDF1 PEX2 TERT NPHP1 PRKAG2 DPP9 AARS2 AMER1 LIFR KCNE2 NFKBIL1 SDHB SCO1 NDUFAF6 ARID1A RPS24 PGM1 GATA5 KAT6B NOP10 FGFR1 IFT80 SEC63 COL1A1 RBM8A MYMK MAP3K1 SLURP1 TAZ TBX1 SRCAP CPT2 CTNNB1 TCAP HBB KRAS COX7B SAMD9 GATA6 COG4 PML SLC29A3 SERPING1 GP1BA ARX DDB2 COG8 TOPORS WDR11 SCNN1B ADAM17 KIT GATA6 CENPE DNAAF5 NPPA ND4 RPL26 CSPP1 SLC25A20 GNAQ KLHL41 SCARF2 ECE1 SEMA3E ANTXR1 AKR1D1 CHD7 CC2D2A VCL ADAMTS2 GPR101 FLNA FERMT1 ATOH7 MAN2B1 LMX1B RAB3GAP2 ATRX CEP290 MYORG BCL6 TP63 MCM4 FANCG TRAC FUZ HDAC8 ZNF469 ASXL1 STAT3 IL7R KATNIP ITGA2B FBN1 ANK1 FCGR2C COQ7 COQ2 NLRP3 HTRA1 TAZ ALDOB NDUFAF5 LETM1 DHODH AVPR2 RPL27 FANCI APC2 PIGA FBLN5 ACP5 SLC39A13 NRAS MYH7 PNPLA2 NUP155 RPS15A PTGIS CRPPA CDH23 EBP GTPBP3 KRIT1 FOXE3 EWSR1 SNX10 APOB RPGRIP1L ASXL1 SF3B4 PKD2 FBP1 SMO ANK2 NOTCH1 ABCC6 THOC6 PRCD NDP TRAF3IP2 FAN1 BMPR1A VPS33A NOTCH2 ERCC5 EFTUD2 CHST3 DYSF ALOXE3 ENG GANAB TTR INPP5E CD247 PRKAR1A EMD LIPT1 CACNA1S ANKS6 WAS CASP10 PIGT SAMD9 KCNN3 CA2 ATP7B PDE4D FBN2 POGZ ANTXR1 SLC26A2 GJA5 FGG RNF168 RP9 PTF1A KCNH2 BMPR1A POU2AF1 EHMT1 COX4I2 MPL DNMT3A ARMC5 MYPN DNAH5 RPL10 KRT1 EPHB2 INVS PQBP1 ACTC1 NKX2-5 FRG1 TECRL HEXB LMNA KLF1 RARB CEP290 GRIP1 GLI2 FOXA2 GYG1 TMEM127 CD79B KAT6B TBXA2R KDSR CALM1 HCN4 ADA2 PIK3CA IDH1 KRAS CACNA1H IRF8 ND5 KRAS COL6A1 NDUFAF1 NDUFS3 COL11A1 FBXL4 SMARCE1 COL5A1 PRPH2 TRIO MAP2K2 PEPD RPL35 DNAAF2 SLC25A3 ARF1 SEMA4A AP1S1 TGDS CD70 LMNB1 MAX TULP1 SNRNP200 FHL1 TNFSF12 CDSN ACTA1 GMPPA USP9X BBIP1 HLA-DQB1 NHP2 ANGPTL6 FBLN5 CWC27 PEX16 NDE1 SLC22A4 CHD7 HPGD GATA6 TKT PTEN TET2 BTD EVC BCHE TALDO1 FLNB EED ALDOA JAM2 CFAP53 USP8 PGM3 FGFR1 AP3B1 FLNA JAK2 SOX18 STIM1 PDGFRB KMT2D POLR1A GLI3 GLB1 GDF2 NEB IFT172 TSC2 CDIN1 TNNT2 NEK9 F7 KRAS BLNK GBA WDPCP CSRP3 REEP6 LMNA KCNN4 TNNI3 TP63 KIAA1549 RRAS2 MEFV ACTA2 KCNH2 TERT SACS RPL5 BRIP1 RUNX1 DDX11 KRAS TPI1 MED25 SALL4 ATM EYS KCNH1 GPR101 IGH DOLK BANF1 PEX1 GATA4 REN DHPS ND4 GPC3 MLH3 FAH RNF213 PRKG1 EXT1 RAF1 TRDN KCNQ1 CFH COL3A1 COLQ PAFAH1B1 GJA1 COL11A2 RUNX1 BCOR SDHB ALB CFI SLC7A7 TBX1 RNF113A RAI1 SLC37A4 TF PTCH1 RPGRIP1 CEP120 DLD RLBP1 PDSS2 CKAP2L EDNRA KCNH1 GALNT3 PCCA PALB2 MAP3K7 NFIX WT1 TAB2 SMARCB1 COX8A PAX3 THPO NRAS STX11 AGA RAD21 TBX19 F12 KCND3 MNX1 CEP290 ERCC2 GREB1L CD40 BEST1 CYTB TPM2 TRPM4 SLC25A20 MYOC MYH9 CLCN7 RET MST1 PEX12 DSE NDUFS6 ARSB TCTN1 NDUFA11 GJB6 SCNN1A KISS1R TERF2IP MPLKIP GPD1L OFD1 PDGFRB HYMAI ALKBH8 DNAAF4 LDB3 FGFR2 LRP5 GATA4 UNC13D MEOX1 ARL13B CYP3A5 ERCC2 WNT5A AGPAT2 TINF2 RHAG HSD3B7 GNE ATP11A NPHP1 ABCA1 PMM2 CEP104 GNAS ARL6 GTF2IRD1 TPM1 SDHD FANCB CDHR1 NF2 RAD21 NPC1 GPIHBP1 COL18A1 CEP57 CNGA1 TBX1 FGA LDLR POLG SMO NF2 SELENOI CPT1A CTLA4 ZMPSTE24 DPF2 C12ORF57 DIS3L2 SUMF1 OFD1 CD3E POMGNT1 NEK2 NEBL CAV1 ACTC1 MAK GCK COG6 BBS2 COMT XYLT1 SLC4A1 PEX5 DPM3 GP1BA RMRP RSPH9 GLIS3 SCN5A ERF DCDC2 RAB27A TP63 ERAP1 SOX5 TAF2 AIPL1 PEX19 TGFBR2 TNFRSF4 MYOC IL6 SRY PTDSS1 PDE6C PMS1 RAC1 TMEM94 ELN VWF MMP1 SEC23B CIITA RPL35A TEK CHRM3 LCAT ALX4 PRKAR1A MDH2 GSN G6PD CNGB3 GATA5 CYTB POLG FGG SCN4B MKS1 TTC8 IL2RB LMNB1 CAT SIX6 PARN IQCB1 TRPV3 MEFV GATA4 SH3PXD2B SDHB PACS1 NDUFA10 BCS1L PLAGL1 PRKCD SLC4A1 TALDO1 TUB ERCC6 ABCA1 BTK MYPN ELOVL4 NR2F2 HK1 SLC12A1 STRA6 RPL35A HBB RPS20 KMT2A AGA RPS26 ACTG2 KRT5 NCF1 MYC RAB23 ACTN2 MKS1 COL1A2 ARID2 NFKB2 ND2 ALX1 LRRC56 MTHFR EIF4G1 F13B SOS1 ACTC1 SGO1 CTC1 IFT122 FGFR2 CDKN2B SMAD3 HDAC8 MTO1 THOC6 SCNN1B HAVCR2 HBA2 UVSSA DNAAF6 CCDC8 FGA DHCR7 GLUL TREX1 GPC4 IL17RC TSC1 CITED2 CCM2 TCTN3 XRCC2 SERPINC1 RECQL4 PEX16 BEST1 SETBP1 MYBPC3 CASR KRAS SMAD6 TFAP2A NDUFA13 SLCO2A1 PTEN TDP2 RPS26 GFI1B KRT14 COX7B GYS1 SLC18A2 GNA14 PRF1 DSP COX3 PIK3CA RPS29 ND1 SCNN1A KCNJ18 CD40LG ARFGEF2 GATAD1 LOXL1 GP9 RSPRY1 F5 LRIG2 TRIM37 PSAP HLA-DRB1 FOXE1 F8 JUP FOXE3 TNNC1 NKAP SEMA5A RANGRF CASQ2 GBA GJB2 SMAD4 TNNI3 MAP3K7 AQP5 LMNA ABCA1 RB1 KCNJ11 ANK1 CRELD1 TGFBR2 MYH8 H19 ALOXE3 GPD1 EED PEX6 SOX18 FXN SMPD1 CALM3 MYH7 COL6A2 NF1 PTPRC SDHAF1 IKBKG CYP11A1 BIN1 MC4R ABCB4 DVL3 PLCG2 DMPK HEXA POLG2 ABCD3 TRNS2 PAFAH1B1 KRT8 NDUFS4 DNAH11 DCLRE1C POT1 PIGO SMOC1 APRT CDKN1A SDHD ARX ITGB3 FGG CAVIN1 FLNA CUL3 TMEM126A LDB3 SFTPA2 TTN PLCB4 HPGD SLC25A4 RIT1 PCNT DNAH5 CEP41 ZNF423 NONO RGR PQBP1 MAP2K1 YWHAE CCDC151 PTEN SCN1B MEN1 HYLS1 SCN3B KCNE5 TPM3 SLC35A1 TACR3 IGBP1 CHST3 IL12B SPEG SLC30A10 XPNPEP2 RYR2 ATM NDUFA6 IFT81 SURF1 SEC23B KLHL7 MEFV NBEAL2 SLC52A2 GATA4 DPH1 RPS17 EPHB4 KAT6B CEP164 PUF60 BTNL2 SMARCB1 SLC25A24 TNNI3K CTNND2 BRAF PGM3 DUSP6 ERCC2 PLD1 PDHA1 SMAD9 TBC1D24 CHD7 BBS1 ALG9 GJA1 CD28 MAP3K7 CCDC40 PNKP POR JAK2 GLI3 EXT2 CCN2 GPX4 EOGT ARL6IP6 AMMECR1 HOXA1 HIC1 FOXF1 NPHP1 GP1BB AHCY VCL TRNK EPHB4 GABRD PIEZO1 COLGALT1 SMN1 RSPH3 PRPH2 APP COG4 SMARCA4 GJA1 ITK KIF20A APOA1 HYDIN RET NOTCH3 RHOH JUP CASQ2 ANK2 CCR6 IFIH1 PLEC SNRPB HYLS1 C8ORF37 PRKCD SETD2 TGFB1 SCN1B GNAS GUCY1A1 IDUA CRB1 IL7 DNAH11 CCDC47 SPAG1 GJA5 PDX1 CPT2 TNFSF4 FBN1 FGF20 SH2B3 IL36RN STAT5B WRN COG7 APOA1 ARID1B SPTB FOXH1 NXN PRKAR1A ERBB3 GMPPB ECHS1 PNP ATP6V1B2 ZAP70 WRAP53 SMC1A STAT3 DNAAF1 FGF8 BMP2 LIMS2 F10 CP ITGB3 DBH LRBA TRNK GNB5 SOX11 F7 KLRC4 ATP5F1A NDUFAF2 PIEZO2 CRB2 AGXT NDUFB11 HSD17B10 WDR26 TNNI3 PRNP PALLD HLA-B PLCG2 NOD2 CTLA4 COL1A1 B3GALT6 MGP FGD1 HSD3B7 GBE1 CALM3 DNAAF4 NF1 MAN2B1 GPC4 TIMMDC1 NDUFAF8 RAD21 SNTA1 TMEM70 STRADA PRDM6 KDR DES MCTP2 PIGN AKAP9 EMG1 COG1 TFRC INPP5E HBA1 RPL11 KRAS PTPN11 SKI RBP3 HABP2 LAMP2 VPS33B ZNF513 FOXRED1 CCM2 SCN5A MKKS LDLRAP1 GALC SEMA3A TRNQ B3GLCT EXT2 RBM20 CCDC103 CLCN7 GNPTAB GBA EDA UBE2T AHI1 BNC2 SLC25A4 F13A1 COQ9 ATP8B1 APOE SMC1A PEX1 EDN1 PPARG CDKN2C ENPP1 GATA5 LRP5 SLC19A3 DLEC1 CCND2 EFEMP2 SGCB PEX5 CAV1 RBM10 TBX1 SPIB RFC2 NLRC4 SDHAF1 MCCC1 IL2RG SRP54 RAF1 GGCX TSC1 CCNQ LTBP3 GATAD1 SCN5A DVL1 NEB PTPN11 KRT9 CSTA FGFR1 CIB1 SCNN1G BBS2 DSE LRRC56 COA5 XK CASR DNAL1 MYCN SCN5A GATA4 TMEM70 ARPC1B LRP5 RPS7 HBB JUP TRNS2 TNFRSF13C SPTB UCP2 DVL3 NEK9 JAK3 MYPN IDS NDP DSC2 ND5 NFIA CITED2 MSX2 RYR1 SERPINF2 VWF CACNA1D EPG5 EHMT1 TCIRG1 CLRN1 CR2 POMT2 ELP1 B3GAT3 PADI4 TAB2 ACTA1 MKKS SMPD1 TSC2 MVK PLEKHM1 RNU4ATAC SELENON LTBP4 DDRGK1 BRAF AIP POLR3A ABCC9 FZD4 NR2E3 PTCH2 CCBE1 DCLRE1C PPP1R15B GBA MYLK TET2 TRPS1 ALDH3A2 ASCC1 PIGS TNXB ADCY5 CPOX CSRP3 SGCD GNAQ BSCL2 PPARG NEUROD2 PDSS1 FN1 FLT4 ABL1 NDUFA9 SPRY4 MAP2K1 LAMB2 CNGA1 TRMT10C DNAAF3 FLNC TNFRSF1B POMT1 GPC3 PGAP2 ND6 KCNJ8 TNFRSF1B TTC8 FANCE JAK2 GATA1 FGFR1 FKTN CHST14 PDGFB RFWD3 ELAC2 CPS1 COL4A1 RPSA TGFBR3 TGFB2 CACNB2 TTC25 SURF1 WIPI2 CDON PROP1 CHD4 GJA5 ACE HADH IGSF3 COQ2 GNS NPHP1 HPS5 NT5E APOB SDHD SMARCA2 GDF3 ABCB11 PSEN2 SPEG FH ADNP EXOC6B LONP1 SAMHD1 YY1AP1 PEX26 NOS1AP CALM1 SEC23B BRCA2 SLC26A2 JAK3 FIG4 SGCD GTF2E2 CASK CIZ1 XPNPEP3 HBA1 ZNF687 CARD9 FRA16E TF PSEN1 PKP2 C1S TRNV CYP11A1 KRAS MLXIPL RNASEH1 PRRX1 GNAI3 UBAC2 DNAI2 APOE HES7 ABCC9 MYH7 MYH6 TMC8 PCNA MED13L OBSL1 NAA10 NDP RORC CHN1 NSMCE2 VHL ATP6AP1 UBE3A CSF2RA SMARCA4 AK2 FIP1L1 FGB SAG PEX2 TGFBR1 LRRC8A SHPK DSG2 PLOD3 TLR4 HPS6 RMND1 ADA CFAP300 CYP21A2 NKX2-6 COA6 SLC4A1 COPA RHAG RPS15A GATA1 LPL SC5D SDHA RBCK1 RS1 GDF2 PAM16 DHX38 FLNA PTEN APP KBTBD13 IL10 SHH COG5 NPM1 SLC37A4 ND1 SAMHD1 RPL18 PTCH1 BRAF INHBA IGF2 CYP26C1 CDC42 ERCC6 VPS13A MPL RIN2 WT1 VPS13B GLI1 DUX4 FGG COL5A1 TTC12 CACNA1D TRDN CYBA TRNW ABCG5 FBN1 ARCN1 AFF4 FN1 ADAMTSL1 GATA2 TERC NSD1 KRT83 FN1 PROS1 NKX2-6 LONP1 NCF2 SMAD3 MARS2 NDUFS4 ITGB3 DLL4 DNAJC19 PLN PDE6G ROM1 SIK1 TBL2 OTX2 RNF135 RYR1 KYNU RBM8A CDKN1B TERC DSP GATA4 SCN4B DRC1 TCF3 TNFRSF1A IL1RN TULP1 TRNS1 GATA3 AIP SCN2B KCNJ5 GATA6 FBN1 GNAT2 IMPG2 SUFU CCDC114 BLOC1S3 CD55 HYMAI SMAD4 PHOX2B USB1 ZMPSTE24 ACAD8 TBXAS1 KDM6A MYH6 GLB1 SPATA5 SCNN1G VHL F13B GUSB COL3A1 CD96 PEX1 BAP1 SLMAP SMARCAL1 CTBP1 DSG1 FRG1 IL17F AMMECR1 FKRP ARHGAP31 TCOF1 MVK COX1 CLCN2 SCN5A XPA FGFR3 PTH1R AICDA UPF3B CASP10 KCNJ11 CC2D2A ECHS1 ERGIC1 CACNB2 NDUFAF1 NDUFV2 MYLK MYLK DYNC2LI1 RAG2 PKP1 STAT3 NSD1 DMD WDR35 LAT BGN TMEM43 NDUFS3 BPTF SEC23A CCDC174 CALR ICOS MYBPC3 CEP57 MRPS16 TRNT XRCC4 KIT ESS2 GNAS BCOR SUGCT ABCA4 BBS2 ESCO2 TCTN2 MRAS GP1BA MYH7 ELN CASK FSCN2 GLB1 CSF2RB SELENON BCOR ND4 KMT2D BBS4 ABCG8 HGSNAT COL2A1 BUB3 PDE8B LIPA SLC26A2 ARL3 FCGR2A FOXC2 F13A1 ATP5F1D GLA FANCI FGFR1 LYST NDUFV1 EDNRB SLC25A11 ARSA TEK ITCH WNT4 MPL SFTPA2 MMP1 IGHM SOX9 FGF8 SALL4 LZTFL1 SRD5A3 PKP2 DSP LTBP4 ACTA2 COL6A3 LEMD3 KIAA0586 MYOZ2 CTC1 SH3PXD2B NDUFS2 SH2B1 C2 LPIN2 KITLG PIK3R1 FLT4 WIPF1 DLST CASQ2 COX6B1 WDPCP HBB RAF1 LRRK2 FGFR2 COX14 TRNW EP300 FGB LFNG DNAL1 BAP1 CAPN5 ITPA SIN3A COL4A3 WDPCP HESX1 FKTN KIT PIGP WAS ZFP57 FGFR2 IL23R ATP6 DIS3L2 EFTUD2 DCHS1 FOXP1 ITGA3 CACNA1S CALR NDUFV1 CFH PEX5 USP8 DMPK CAP2 BTD ADAR BCR IL10 IFIH1 SOX10 CCDC40 GNB3 MRPL3 ERCC2 TPK1 CTSA PRKAR1A STK11 SMCHD1 HBB FKTN MEN1 ATRX TPM3 SCN1B AKT1 RRM2B KDSR DNMT3A ADAMTS10 PIK3CA CHRNA7 ND4L BMPR1A MAD2L2 ZMPSTE24 KCNH2 MED12 RP1L1 PPP2R1A APC IL12RB1 LARS2 TRNL1 POMT1 GJA8 RAF1 TANGO2 DYNC2H1 DGCR2 ALPL KIAA1109 NEK1 NODAL CAV1 PRKACA PCARE PTEN ERMARD RFWD3 PIGN KCNQ1OT1 AK2 RPL10 COL5A2 BLM KCND3 FGA RPL31 RIT1 RPL15 SLC4A1 JAG1 ACAD9 TUBB FTL TNFRSF11A PTPN22 ERCC4 PDGFB GDF1 GP6 PRKCD KIF1B ARHGEF18 TGFB3 TNNI3 PALB2 NDUFS7 PDE6D GJB3 KIT PRDM5 VHL TUBB NLRP3 SDHB STRADA PMS2 GPC6 ABCC6 TACO1 SMARCD1 SDHB HES7 TGFB3 TFAP2B TRNF RPS6KA3 IFNGR1 ALMS1 PDE6G CCDC28B PIGL CPT2 VHL FGFR3 PRDM16 PIGT MRPS22 HSPG2 MANBA TBCK HYOU1 CALR OFD1 UROS DCAF8 GDNF COG4 RREB1 HOXA13 TPM1 RUNX1 SELENON NPHP3 LBR PAH ALOX5AP WASHC5 AKR1D1 SMPD1 RFT1 PEX3 TMEM216 FAT4 RPS10 EOGT PITX2 TMCO1 HLA-DRB1 DES MEN1 ACTB KRT5 USP18 HTRA2 PEX19 ITGA2 SPATA7 NXN NID1 LMOD1 MKS1 LOX FBLN5 GATA4 COA8 MAN2B1 RASGRP1 SRY KCNJ11 KRAS SMARCB1 RECQL4 TRDN SP110 TAB2 NKX2-5 WT1 PSMD12 ACADL SLFN14 DISP1 AEBP1 SNTA1 DNAI1 SEMA4A ATP6V0A2 ACVR2B BCL11B FLAD1 RTEL1 ASCL1 CALCRL PIK3CA ATIC CCBE1 ASXL1 CDC73 SAMD9L WT1 MKS1 WDPCP F8 TBX4 UBR1 GBA SMAD4 GP1BB NEDD4L SBDS MIPEP ICOS RAD51 SLC26A2 ANO5 PEX11B BSCL2 PCNT KCNE3 EYS COL3A1 TERT SLC17A5 ADAT3 LIG4 IDUA IFT27 TWIST1 RAG2 EXT2 SMC3 HRAS MAP2K2 NDUFV2 PSEN2 ESCO2 LOX CRKL CDK4 RAG1 ITGB3 SPARC PALB2 GJA1 STXBP2 TGFB3 CBS PIGO TCOF1 TBX22 COL4A1 RLIM ADAMTS3 APC PIGL TPM3 CDH23 SCN9A NDUFS4 FOXC2 LMNA ENG SH2D1A SOX9 GATA1 TTN TMEM67 GLMN MPL LRRC6 USH2A IL12A MLH1 RP2 RPGRIP1L SETD5 IL7R MYL2 CCDC22 IFT172 IGH TKT NEXN KIF11 WNT5A ATP2C1 RPE65 PPP2CA SGCG CNTNAP2 SLC20A2 NKX2-5 PEX10 PIK3CD DHCR24 PIGW TTC25 SERPINF2 KRT18 MTFMT AKT2 HSD11B2 NDUFB9 GP1BB PHKA2 ITGA8 RNASEH2A ZNF513 TGM5 PERP PDE11A CLCN7 SMARCE1 SCNN1G CACNA1D WDR19 SLC4A1 NDUFB11 RAI1 LACC1 GM2A CYP11B1 RPL11 TNFSF15 MAB21L1 CITED2 FLNA FAT4 ANTXR1 KDM6A CLIC2 CFHR3 NUBPL SNX14 PIGY NDUFS1 LIPT1 SOX3 PSAP CPOX ND1 CD79A SLC22A5 LYZ PRPF6 FGFR2 MAPRE2 AMMECR1 LIG4 ARL6 CYSLTR2 PRPH2 CEP55 ELANE TRNC CLIC2 TSC1 FGFRL1 FUT8 ALDH18A1 DTNBP1 HABP2 TBX1 CHST3 SAA1 ATR BTK ZNF408 RSPH4A KANSL1 ERCC8 PHKG2 FHL1 PSTPIP1 HRAS CCDC65 TP53 NLRP3 NDUFS2 SPECC1L IGF2 CACNA1C GJA1 SH2B3 SYNE1 ITGA8 CYBC1 IRF8 CST3 CA2 GNAQ SCN10A MYD88 LMAN1 KRT16 VCL OTX2 SIX3 PIK3CA LMNA PLAGL1 HAVCR2 LMNA CYP11B2 MLYCD PITX2 AGGF1 AKT3 RPGRIP1L NOD2 NUMA1 DLL4 RERE MAPK1 MASP1 SPINK5 TMPO CTU2 AGTR1 TNNC1 TGFB1 CNGB1 XIAP SELENON UBR1 TRIM28 IFT140 TSPYL1 PTPN22 C2CD3 FAS RAI1 SPP1 TNFRSF11B ARMC5 PLEC IGF2 DCAF17 HLA-DPB1 PPARG PRKAG2 GLRX5 ARX SOS2 TWNK CCDC103 TRNH XYLT2 NAGS PIGV HGD RPL10 PEX14 GNA11 MYLK2 ERCC4 DMXL2 ADAMTS10 FBN1 ACTA1 CTSB REST CAV3 PEX12 FOXC1 GATA6 CAV1 CRYAB IRF8 BBS10 SRP54 DHCR24 STEAP3 ACD STN1 GCDH NDUFA12 MYH6 NSD2 BVES CD2AP LMNA SCN5A HPSE2 SCN4A POMK ALG1 CACNA1C FLNC FUCA1 COA3 G6PC HESX1 CFI RPS27 FGB ARL6 P2RY12 ABCA4 SCYL1 UMPS CAV3 LAMC2 STXBP1 SYT1 NMNAT1 TBX1 GGCX NSUN2 GJB3 RAD51C LMNA ITCH BAP1 BRCA1 ATP7A MYH6 LMNA PRTN3 NR3C2 CSPP1 WDR35 CCDC115 ZNF469 ZEB2 IDUA IMPDH1 HOXD13 TCTN2 SLC35A1 HMCN1 GAA FECH KRT10 PRCD BMP2 COX15 FGFR2 PLVAP SON RYR1 LIPC SLC25A24 FKBP14 RET AHCY KDM6A FAT4 COX15 LCAT KCNQ1OT1 RNF6 FGF17 SP7 CFAP410 NDUFA10 ACAD8 PIK3C2A NTRK1 CAV1 RNASEH2C IL17RA CDKL5 BEST1 TTN NSD1 ERCC2 EFEMP2 ABCB6 MMEL1 BUB1 ARL6 TKFC COX20 MYH7 CDKN2B UMPS GJB4 INTU CCDC22 DOLK TPM2 DSG2 H19-ICR HAMP WAS DOCK6 MYH6 HSD11B2 DNAAF1 SON AHR COL7A1 FLT4 RAG1 FKRP BRAF RASA1 PDE3A GBA KCNE1 CBL TNNT2 TRIP4 ADCY5 PHGDH PPP1CB HNRNPA1 SPTB G6PC3 RANBP2 LAMA4 CYTB MPI GDF6 SCNN1A CD19 TREX1 SCN10A KCNMB1 TOP3A SLC39A4 WWOX HADHA IGHM MYH11 TBX5 PET100 COL1A1 NAGA PTEN ABCA1 GNE GLI3 TXNRD2 TNFRSF11A NKX2-5 PDCD10 HSPG2 FBLN5 SCNN1B MYPN PROS1 SCAPER NPPA SCN1B CD19 FKBP14 WARS2 TTN ZNF148 ARL2BP FRAS1 HIBCH SDHC FANCF NECTIN1 PEX6 TBX3 TGFB2 MESP2 COX3 DOCK8 HYLS1 NRAS SCN3B ZIC2 MYO5B KAT6A MECP2 RSPO2 SGCB SPEF2 CCND1 NIPBL CALM2 F5 YY1 SLC2A10 KIF1B AIP ALDH18A1 INS TNFRSF1A MBTPS2 HBG2 TWNK ABCC8 RPL15 TRAF7 PIGN FGFR1 TBX20 KCNJ2 ZAP70 SFTPA1 SPTA1 ACTA1 EPAS1 SPECC1L TFR2 DSG2 ANO10 RTEL1 PROKR2 ABCA12 CBL HACD1 TRIM8 POMT2 TNPO3 TXNRD2 SLC29A3 TRNN ACAD9 ADAMTSL2 TSC2 ND4L CEP290 DSP ZNF423 FMO3 NDUFAF4 DPF2 FOXP3 DACT1 CRYAB TWNK SF3B1 GNE SMOC1 NR3C1 SULT2B1 TERT KLLN BAG3 ELANE YARS2 TRNF GAS2L2 XPA LMX1B PRKACG KCNJ5 IDH3A AKAP10 MC2R RASA2 DHCR7 RBP4 HJV B9D2 RASGRP1 RHO LDLRAP1 NRXN1 SH2B3 PRPF3 TMEM237 KIF7 KIAA0753 LMNA KLF13 MUC5B RLBP1 TSR2 TSPYL1 NNT HNF4A TP53 TKFC LMNA NDUFA2 VIPAS39 FOXC1 ANKRD11 KCNJ8 KDM1A IFIH1 LRP5 MOG EIF2AK4 HBB SDHA XYLT1 AIP PACS1 SRSF2 PTPN11 CPN1 PLOD1 SGCD DNAH9 CACNA2D1 TMEM43 F9 FSHR WHCR COL1A1 ELOVL4 NLRP3 TGDS HMBS HCCS TREX1 SOX18 CEP19 DNASE1 DES ACADVL CYLD ROM1 NOTCH2 SCN5A WT1 DGUOK IFT88 FERMT1 VAC14 KIF1B PIK3R1 USF3 GYG1 DNAJC21 LIPA CCNQ COL1A2 CDAN1 SDHA FXN PEX3 POMT2 CD109 EIF2AK3 PSAT1 ENG TTN SKI IDUA PRPF31 KRIT1 CLEC7A NEXN KPTN MRE11 MAP1B DKC1 RPL26 GATA1 PDE6A ARID2 TET2 TET2 HBA2 FUCA1 GABRA3 ALOX12B CCDC39 PLIN1 FGFR3 ATRX HAAO FMR1 MYH7 BACH2 SGSH ARID1B PTEN STK11 SCN1B KCNK3 SOX9 GPC3 EDA2R OSTM1 CTLA4 TNNI3 PDGFRA GATA6 SFTPC KCNQ1 BOLA3 CBL APOE TTC37 CHD7 HSPG2 COX7B MTRR STN1 RNASEH2A MCCC2 NFIX PROC CYP11B2 MSH2 IL6 POLG2 CCND1 NCAPG2 ATP7A STX3 GAS8 DGCR8 LMNA TRIM32 GIGYF2 TCF4 AKT1 TRNK TMC6 RASA1 HPS3 HRAS FGA SETBP1 IRF2BP2 HIBCH SLC35A2 TFAP2A SEMA3E PIGQ CHST14 PLEC ACTN2 CHRND INPP5E PKLR GINS1 CRYAB PEX10 NEK1 ESCO2 ECE1 AGBL5 WRN DVL1 KLHL3 BRAF NKX2-5 POU6F2 DAXX C4A DES ALDH18A1 RPS28 FLCN COL4A2 PSMB8 TCAP LAMA4 FANCA DMD KLHL7 DGCR6 WFS1 NCF4 RAG1 TPP2 ADD1 RAB23 F5 SGCG XRCC2 TMEM67 NKX2-5 CDON B2M CRTAP TP53 PIK3R2 DCAF17 FKRP GATA6 SUFU ERCC4 ALX4 OFD1 ATAD3A DCLRE1C SCNN1B ACAT1 MBTPS2 CACNA2D1 TPM1 ND5 LARP7 MUC5B NDUFS8 LIAS SP110 FAS MYH3 DPM3 PIGY BAP1 FANCM ETHE1 DHDDS KCNJ5 SNX10 ERCC6 NKX2-5 MEN1 GPC4 HNF1A XRCC4 TET2 FHL1 MUC1 RYR2 DGUOK DNMT3B ARMC9 SDHB POMT1 MAP2K2 NCF1 RBM20 CLIP2 ALX3 POR IFNG DCDC2 STAT4 HLA-DRB1 PRKACA F2 KCNN4 PLEKHM1 MAFB NDUFS2 PKLR PCGF2 NEU1 GTPBP3 NOTCH1 HIRA DKC1 KCNQ1 STEAP3 AKT1 RNF125 TGFBR2 FGA CPLX1 WFS1 AIP TGFBR1 MYL2 GNAO1 DYNC2I2 SOS1 CYP24A1 MYH7 RERE DNAJB13 TBC1D24 HLA-B SDHD WNT3 BRCA2 SERPIND1 FLNC PROKR2 TRNL1 DDB2 GREM1 ANAPC1 GPD1L RIN2 FBN1 SMAD6 ND3 TGFBR2 RYR2 ND6 MED12 COL4A1 NOTCH3 CCNO AGXT PIBF1 SLC26A3 CR2 IL2RA SLC7A7 NDUFA4 CAVIN1 PROC KCNQ1 TPM3 IGF1R ANKRD26 PEPD GJA1 BAG3 LYST KDM5B SLC25A11 ALG8 ATP6V0A2 ERBB3 RPL27 ACTN4 ADA2 PMM2 RET DYRK1B COL2A1 TRNL1 POLR3A EPB42 BMPR2 GNB5 ND1 CRELD1 PIK3CA RNU4ATAC MSX1 GPC6 MGP PSAP IFT172 NDUFB8 VHL ANKRD1 KCNQ1 NGLY1 PPP1CB KRAS MITF SCN5A SALL4 TRAPPC11 ALB ERCC5 ATRX EPB41 PHOX2B CTNNA3 CFAP221 RNU4ATAC B3GALT6 SDHD LAMA3 ZIC3 GGCX B3GLCT RAI1 SALL1 CDKN1B F2 STK36 BBS5 IDH3B CAV3 NEUROG3 PUF60 TRPM4 DHX37 SDHC MALT1 SDHD ATPAF2 TXNL4A KRT2 HS6ST1 PSAP DDRGK1 KCNE2 NME8 TRNE ND1 UBE3B COQ2 BMP2 NAXD LMNA COX10 FKRP MKKS CYP17A1 TRDN THBD BTNL2 EYA4 TGM5 BCL10 FBN1 TNFRSF13C PDGFB ALG9 FANCC LIG4 ACTA2 FLNA TCTN3 GNAS IKBKG PRKG1 SERPINA6 AGTR1 CFB GDNF POMP KAT6B NHLRC2 TRMU KCNJ2 RPGR HADHA FANCB PKD1 FANCD2 SCN9A TCIRG1 ZIC3 SCN9A SLC39A4 POLG ADA LIPN KCNE1 CERKL GCH1 BAZ1B CYP7B1 PCSK9 SFTPB PTH1R CTLA4 BCOR LRP5 PPCS DYNC2LI1 TGM1 ASS1 PPCS GYPC MPL COL1A1 COL4A5 TP63 CFC1 TSHR NONO COA8 ACTG1 MYH7 CLPB SCN5A THSD1 PIGA ARID1B DNAAF2 NPHP4 JAG1 BAP1 CRLF1 NOS3 MMUT KIT FAH SRD5A3 CDK8 STAT1 IFNG SDCCAG8 MED25 PAX3 HCN4 CRYAB KIF15 RNF113A GNPTAB ACTG1 IRX5 ZMYND10 PIGL SEC23A PIK3R2 AIRE MYH7 AIRE SF3B4 PIGV FMR1 TXNL4A COL1A2 PIK3CA AKT1 AAAS NFIX GBA PACS2 DIS3L2 KRAS DNAJC19 KRAS JUP APP ALG1 NDUFA1 ACTA2 DLL3 NDUFA11 CYP17A1 NOTCH1 TNFRSF13B CASR FLII LDB3 CHRNA1 TRPM4 C12ORF57 AKAP9 MC1R ATP6 CSRP3 NSMF IL10RA BBS1 CUL7 TOPORS NDUFS2 OPA1 TSC1 SLC40A1 ATP6V1A FBN1 HMBS FHL1 CTCF PRKCH C8ORF37 SPTA1 DLD F8 CXCR4 ARL3 GDF6 LRAT PEX7 GATA6 ADK SLC20A2 ABCC6 FGF23 AGPAT2 ATP5F1E CTLA4 ATP6V1E1 FANCA SUMF1 DSP OTX2 OFD1 CD27 CASP8 RPS19 POMGNT1 KCNJ5 TNFSF12 SPINK5 MPL STIM1 PNPLA2 SLC19A2 CFHR3 RPS19 POMT1 FCGR2A NEXN FEZF1 SUFU TP63 BAG3 NOS3 LIPA NKX2-1 DNAJC13 TMEM231 TTR MPLKIP VHL LRP1 BIRC3 ESR1 FBN2 FANCL EPB42 GNAS LAMP2 DDX59 ND2 RAF1 MAP3K7 ITGA2B PEX7 IL12A-AS1 MLX FGFR2 PCCB TJP2 MED13L PORCN CD81 MRPS14 THPO MYRF MRPL44 HAMP KRT5 CTNNB1 MMP14 KLF1 TRNT1 DBH TRPM4 SERPING1 PCNA TERT BRAF PET100 HLA-DQB1 TNNT2 PRKCSH AEBP1 EVC PEX6 ACVRL1 TELO2 COL2A1 FADD GCLC FIBP KCNQ1 TAF2 RGR FADD SNIP1 SCO2 NDUFS2 NDUFB11 SLC25A22 KCNE3 MRAP ADGRE2 CACNA1S VPS33A HSPA9 NF1 SNCA FLI1 CD46 OTULIN CLDN1 GAS1 FASLG COX3 FANCB LMNA C2CD3 MTHFR ROR2 PQBP1 GATA1 SDHA SMAD4 SNRPB MEGF8 CYP7A1 KIAA0319L KCNE2 AP3D1 PEX1 COQ4 ATM ARVCF BPGM CRX RAG2 CKAP2L INVS NFKB2 KIF5A JAK2 KIF7 TGIF1 FOXRED1 SOX3 FKTN IQSEC2 DMD COL4A1 LAMB3 TNFSF11 SDHC RBPJ HBG1 KCNQ1 NDUFAF4 CISD2 IL2RG PLAU F5 TBX2 RNASEH2B GMPPB SCN11A GLRX5 MAF PLN VPS45 NPM1 ND5 USB1 PEX16 NOS3 ELN SLC2A1 STAG1 HADHA MYH11 RBM10 STAR PORCN MYH7 MYH9 NKX2-5 RET GSN CDKN2A PSMD12 MYPN NOTCH3 GJA1 NCF2 SLC39A13 MEIS2 FOXC1 IDH1 PRPF8 FOXP1 SOX10 RNASEH1 ERCC4 NDUFS8 ND5 STIM1 CYP11B1 MEF2A ACTA2 ATP7A TERC ELN GPX4 PMPCA EMD VAMP7 GLB1 JMJD1C SYNE1 VANGL1 RPL5 CEP120 IVD NLRP3 PKD2 FLNA MED13L AUTS2 TRIP13 GNAI2 CACNA1S NRL FLNA CARD11 NAA10 TMEM126B POLR1C COL1A2 PROC STK4 SDHB SCO2 BUB1B SCN2B PTPN11 DLX5 SOX4 GNPTG JAK2 MTMR14 NR5A1 YY1AP1 NDUFAF2 RMRP ARID1A CSNK2A1 USH2A TCTN3 SETD5 CPT2 SF3B1 TK2 TRNW SCNN1G SOX2 TBX1 SPRY2 NOTCH1 CPT1A JAK2 NDUFA2 TRAF3IP1 CFAP298 P2RY11 CEP290 SERPINC1 TMEM67 KCNJ18 FZD4 GBA NGLY1 SEC24C COL2A1 MECP2 MAX ATP6 TMEM107 FGFR2 FGFR2 FTO LMBR1 HADHB DSP COL7A1 RB1 SLC25A4 CLRN1 MEIS2 SNRNP200 RIPPLY2 CYBA SHANK3 GDF1 NDUFAF5 TMEM237 NOTCH2 NAGA SMARCC2 SDHAF2 STAG2 PEX19 CD81 PDGFRA SIM1 TRNE FHL1 PPARG PARS2 SGCA ZFPM2 SMG9 CLCF1 TMEM127 ETV6 TTC7A NIPBL IDH2 GTF2H5 GMPPB RPGR SCNN1B PHYH CAV1 ENPP1 COX1 PEX26 SCARB2 HFE KCNA5 PEX5 ACVRL1 ARL2BP NFE2L2 INTS1 CYP11B1 SYNE2 AKT1 IL17RD TTN FGFR2 ABCC9 TRIP13 RAG1 ITGA2B CFAP300 RIPK4 PRPF3 PAX6 SMC3 ALDH18A1 IDH2 RHBDF2 TTC37 CD28 FARSB LRP5 NPC2 RERE SELENOI BMPR2 NRXN1 SCN5A ZMYND10 TMEM67 RBBP8 TRIP11 LZTR1 COL3A1 FREM2 SALL1 ATP6 CYP27A1 NUP107 PLIN1 NKX2-5 IKZF1 PEX13 POLG AKAP9 EXT2 RARA TPM2 NEK10 ARMC4 AGT LIG4 UBE2A SSR4 EGFR APOC2 SLC2A10 RPS6KA3 MAP2K1 PDGFB PTEN ND1 CEP120 GJB6 RDH5 ABHD5 NDP AHI1 ISCU SERPING1 PNP COL3A1 ITGA7 NDUFB11 NPHP3 TRNK HLA-DPA1 NEK8 RARB PLN PRKAR1A SLC25A13 TLL1 HLA-A CNBP DVL3 NLRP3 MAF ADNP LBR TANGO2 PKHD1 ATP6V1A FANCD2 SNCA BICC1 SBDS FAM149B1 ACADS BMPR1A COX2 GTF2I MID1 MVK KIF23 MYBPC3 DNASE1L3 KCNE5 THOC2 FGFR3 FLNA IFNGR1 ISG15 PEX6 TP63 D2HGDH LTBP2 DDX58 EZH2 IDH3B F8 SLC29A3 TBX6 NF1 SOX10 STAT3 SCYL1 TMEM260 ATAD3A HLA-B GLI2 ITPR1 PTPN22 SCNN1A EBP COL7A1 EDN3 LDB3 BIN1 WT1 LIPC ABCD4 HPS1 PROK2 SIM1 WASHC5 LPL SLC12A3 PHF21A CYP27A1 ARNT2 HNRNPU STING1 FIG4 FANCC GUCY1A1 PTPN14 SIK3 IRF6 POLD1 SDHB TMEM216 ACTA1 PEX14 PRKAG2 NR3C1 SUZ12 DNAAF3 HBA1 IGF2 GJA5 MYPN SETX ND2 POLH CYBB CALM2 KCTD1 FSCN2 HADHA TCIRG1 SEMA3A GP9 AP1B1 LYST LMNA TMEM231 TNXB CDH23 IL7R BTK SARS2 ELN STAC3 FLNA SMAD4 MAP3K20 PGAP3 FOXE3 NFU1 MKS1 MYH11 MCFD2 ACTB FECH FLI1 PUF60 KRAS
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:0002621: Atherosclerosis
Genes 90
ZNF687 CYP27A1 BSCL2 GGCX ACTA2 NPC2 SERPIND1 LOX ENG KCNJ5 LDLR SMAD4 LMNA ESR1 GGCX SC5D PRKG1 SMPD1 ABCA1 WRN LCAT CSF2RB SMAD3 ABCC6 NOTCH3 MFAP5 TGFBR3 SMPD1 CYP7A1 ABCG8 LMNA ACTA2 ABCA1 CEP19 ALMS1 CAV1 LMNA APOA5 LOX TGFBR2 ELN APOE XYLT1 ABCA1 LDLRAP1 MYLK ABCC6 TGFB3 BANF1 LMNA ANGPTL6 PCSK9 ENPP1 LDLRAP1 CSF2RA FOS APOB TNXB APOB MAT2A FBN1 PPARG ZMPSTE24 LMNA LMNA AGXT COL3A1 LMNA AGPAT2 TGFBR1 TGFB2 ABCG5 GLB1 SMPD1 LMNA XYLT2 FOXE3 THSD1 MYH11 PPARG ANTXR1 MYH11 CAVIN1 LIPC ABCG8 MYH11 NPC1 LCAT ASAH1 HGD
Protein Mutations 3
G21210A V167F V617F
SNP 7
rs1024611 rs1051931 rs10757274 rs10757278 rs16874954 rs1799724 rs2383206