Cardiology

The identification of the genetic cause of cardiovascular diseases is essential to make a correct diagnosis in order to choose the most appropriate therapeutic approach.

DG Heart Disease I 475 genes

A2ML1, ABCC6, ABCC9, ABCG5, ABCG8, ABL1, ACADVL, ACTA1, ACTA2, ACTC1, ACTN2, ACVR1, ACVR2B, ACVRL1, ADAM17, ADAMTS10, ADAMTS19, ADAMTS2, ADAMTSL4, AGK, AGL, AKAP10, AKAP9, ALDH18A1, ALDH1A2, ALG10B, ALPK3, ANK2, ANKRD1, ANKS6, APOA2, APOB, APOE, ARHGAP31, ARIH1, ARL2BP, ATAD3A, ATP13A3, ATP6V0A2, ATP7A, B3GAT3, B4GALT7, BAG3, BAG5, BCL9, BCOR, BGN, BMP10, BMPR1B, BMPR2, BRAF, C1R, C1S, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALR3, CAP2, CAPNS1, CASQ2, CASZ1, CAV1, CAV3, CAV3, CAVIN4, CBL, CBS, CCDC115, CCDC39, CCDC40, CDH2, CFAP298, CFAP300, CFAP53, CFC1, CFL2, CHD7, CHRD, CHRM2, CHST14, CITED2, CLCA2, COL1A1, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, CORIN, COX15, CPT2, CREBBP, CRELD1, CRIPTO, CRYAB, CSRP3, CTF1, CTNNA3, CTNND1, CYP7A1, DAW1, DES, DLL4, DMD, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAJC19, DNAL1, DOLK, DPP6, DSC2, DSE, DSG2, DSP, DTNA, DTNA, EFEMP2, EHMT1, EIF2AK3, EIF2AK4, ELAC2, ELN, EMD, EMILIN1, ENG, EOGT, EP300, EPG5, EPHX1, ETS1, EVC, EVC2, EYA4, FBLN2, FBLN5, FBN1, FBN2, FBXO32, FGD1, FHL1, FHL2, FHOD3, FKBP14, FKRP, FKTN, FLCN, FLII, FLNA, FLNC, FLT4, FOXA2, FOXC1, FOXE3, FOXF1, FOXH1, FOXJ1, FOXP1, FOXRED1, GAA, GATA4, GATA5, GATA6, GATAD1, GDF1, GDF2, GET3, GJA1, GJA5, GJC1, GLA, GLB1, GNB2, GNB5, GPC3, GPD1L, GUSB, GYG1, GYS1, HACD1, HADHA, HADHA, HAMP, HAND1, HAND2, HAS2, HCCS, HCN4, HEY2, HFE, HJV, HNRNPK, HRAS, HYAL2, IDH2, IPO8, IRX4, ISL1, ITGA7, JAG1, JPH2, JUP, JUP, KANSL1, KAT6B, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ3, KCNJ5, KCNJ8, KCNK3, KCNQ1, KDM5A, KDM6A, KIF20A, KLF10, KLF13, KLHL24, KLHL25, KLHL4, KLHL40, KLHL41, KMT2D, KRAS, LAMA4, LAMP2, LDB3, LDLR, LDLRAP1, LEFTY2, LIPA, LMNA, LMOD2, LOX, LPA, LRP6, LRRC56, LTBP2, LTBP3, LZTR1, MAP2K1, MAP2K2, MAP3K20, MAP3K8, MAT2A, MCTP2, MDFIC, MED12, MED13L, MEGF8, MEIS2, MESP1, MFAP5, MGP, MIB1, MMADHC, MMP21, MRAS, MRPL3, MRPL44, MTO1, MTR, MTRR, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYL4, MYLK, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, MYZAP, NAA10, NEB, NEBL, NEK10, NEXN, NF1, NIPBL, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NOTCH3, NPHP4, NPPA, NR2F2, NRAP, NRAS, NRP1, NUP155, OBSCN, ODAD1, ODAD2, ODAD3, ODAD4, PCSK9, PDGFRA, PDLIM3, PITX2, PKD1, PKD1L1, PKD2, PKP2, PLD1, PLEKHM2, PLN, PLOD1, PPA2, PPARG, PPCS, PPP1CB, PPP1R13L, PRDM16, PRKAG2, PRKD1, PRKG1, PSEN1, PSEN2, PTPN11, QRSL1, RAF1, RANGRF, RARB, RASA1, RASA2, RBFOX2, RBM10, RBM20, RIT1, RNF40, ROBO1, ROBO4, ROCK2, RPL3L, RPS6KB1, RPSA, RRAS, RRAS2, RYR2, SALL1, SALL4, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCNN1A, SCO2, SDHA, SELENON, SEMA3A, SGCB, SGCD, SGCG, SHOC2, SHROOM3, SKI, SLC22A5, SLC25A3, SLC25A4, SLC2A10, SLC40A1, SLC4A3, SLMAP, SMAD1, SMAD2, SMAD3, SMAD4, SMAD6, SMAD7, SMAD9, SMARCA4, SMC3, SNAI1, SNTA1, SOS1, SOS2, SOX17, SOX2, SOX7, SPAG1, SPEG, SPRED1, SPRED2, SPRY1, SRF, STAP1, STRA6, SVIL, SYNE1, SYNE2, SYNGAP1, TAB2, TAF1A, TAFAZZIN, TBX1, TBX20, TBX3, TBX4, TBX5, TCAP, TECRL, TFAP2B, TFR2, TGFB2, TGFB3, TGFBR1, TGFBR2, THSD4, TKFC, TLL1, TMEM199, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT1, TNNT2, TNXB, TOPBP1, TPM1, TPM2, TPM3, TRAF7, TRDN, TRIM63, TRPM4, TSFM, TSPYL1, TTN, TTR, TULP3, TXNRD2, UPF3B, USP34, VCL, VEGFA, VEZF1, WDR5, WWTR1, XK, ZDHHC9, ZFHX3, ZFPM2, ZIC1, ZIC3.

Targeted exome sequencing covering 475 genes associated or potentially associated with the development of hereditary cardiovascular diseases, including cardiomyopathies, channelopathies, and aortopathies, as well as pulmonary hypertension and hypercholesterolemia. Recommended for complex cases without a definitive clinical diagnosis.

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Cardiomyopathies I: 6 studies

Cardiomyopathies are diseases of the heart muscle in which the myocardium is weakened, dilated, or has another structural problem that affects its ability to pump blood properly, potentially leading to heart failure. We offer a general targeted exome analysis that includes testing for genes associated with the most common types of cardiomyopathy (hypertrophic, dilated, arrhythmogenic, restrictive, and non-compacted) or a specific analysis of each type.
A2ML1, ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AKAP9, ALPK3, ANK2, ANKRD1, APOE, ATAD3A, BAG3, BAG5, BRAF, CACNA1C, CACNA2D1, CACNB2, CALR3, CAP2, CAV3, CAVIN4, CBL, CDH2, CHRM2, CITED2, CORIN, COX15, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, EIF2AK3, ELAC2, EMD, EPG5, EYA4, FBXO32, FHL1, FHL2, FHOD3, FKRP, FKTN, FLII, FLNA, FLNC, FOXRED1, GAA, GATA4, GATA5, GATA6, GATAD1, GDF1, GET3, GJA5, GLA, GLB1, GPD1L, GUSB, GYG1, GYS1, HADHA, HAMP, HAND2, HCN4, HFE, HJV, HRAS, IDH2, JAG1, JPH2, JUP, KCNA5, KCND3, KCNE3, KCNE5, KCNJ2, KCNJ8, KIF20A, KLF10, KLHL24, KLHL25, KLHL4, KRAS, LAMA4, LAMP2, LDB3, LMNA, LMOD2, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MRPL3, MRPL44, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, MYZAP, NEBL, NEXN, NF1, NKX2-5, NOTCH1, NPPA, NRAP, NRAS, OBSCN, PDLIM3, PKP2, PLEKHM2, PLN, PPA2, PPARG, PPCS, PPP1CB, PPP1R13L, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, QRSL1, RAF1, RANGRF, RASA2, RBM20, RIT1, RPL3L, RPS6KB1, RRAS, RRAS2, RYR2, SCN10A, SCN1B, SCN2B, SCN5A, SCNN1A, SCO2, SDHA, SELENON, SEMA3A, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLC40A1, SLMAP, SMAD6, SOS1, SOS2, SPEG, SVIL, SYNE1, SYNE2, TAF1A, TAFAZZIN, TBX1, TBX20, TBX5, TCAP, TFR2, TGFB3, TKFC, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TRPM4, TSFM, TTN, TTR, TULP3, TXNRD2, VCL, VEZF1, WWTR1, XK, ZFPM2.
A2ML1, ACTC1, ACTN2, AGK, ALPK3, ATAD3A, CACNA1C, CAV3, CBL, CORIN, CSRP3, DES, ELAC2, FHL1, FHOD3, FLNC, GLA, GYG1, GYS1, JPH2, KLF10, KLHL25, KLHL4, KRAS, LAMP2, LDB3, LZTR1, MAP2K1, MAP2K2, MRAS, MRPL3, MRPL44, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NRAS, OBSCN, PDLIM3, PLN, PPARG, PPP1CB, PRKAG2, PTPN11, QRSL1, RAF1, RASA2, RBM20, RIT1, RPS6KB1, RRAS, RRAS2, RYR2, SCO2, SHOC2, SLC25A3, SLC25A4, SOS1, SOS2, SVIL, TBX20, TCAP, TKFC, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTN, TTR, TULP3, VCL.
ABCC9, ACTA1, ACTC1, ACTN2, ANKRD1, BAG3, BAG5, CAP2, CAVIN4, CDH2, CHRM2, CPT2, CRYAB, CSRP3, CTF1, DES, DMD, DNAJC19, DOLK, DSG2, DSP, EMD, EPG5, EYA4, FBXO32, FHL2, FKTN, FLII, FLNC, GATAD1, GET3, GLA, HAMP, HAND2, HCN4, HFE, HJV, IDH2, JPH2, LAMA4, LDB3, LMNA, LMOD2, MIB1, MYBPC3, MYH6, MYH7, MYL2, MYLK, MYPN, MYZAP, NEBL, NEXN, NRAP, OBSCN, PDLIM3, PKP2, PLEKHM2, PLN, PPA2, PPCS, PPP1R13L, PRDM16, PRKAG2, PSEN1, RAF1, RBM20, RPL3L, RYR2, SCN5A, SDHA, SGCB, SGCG, SLC22A5, SLC40A1, SPEG, TAF1A, TAFAZZIN, TBX20, TCAP, TFR2, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, XK, TXNRD2, VCL, VEZF1, WWTR1.
ABCC9, ACTN2, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CDH2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GPD1L, HCN4, JUP, KCND3, KCNE3, KCNE5, KCNJ8, LMNA, PKP2, PLN, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN5A, SCNN1A, SEMA3A, SLMAP, SYNE1, SYNE2, TGFB3, TMEM43, TRPM4, TTN.
ACTC1, ACTN2, DES, FHL1, FLNC, GLA, KIF20A, MYBPC3, MYH7, MYL2, MYL3, MYPN, NPPA, SCN5A, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR.
ACTC1, ACTN2, DMD, DTNA, FHL1, FHOD3, HCN4, KCNA5, LDB3, LMNA, MIB1, MYBPC3, MYH7, MYL2, NKX2-5, PLN, PRDM16, RYR2, TAFAZZIN, TBX20, TBX5, TNNI3, TNNT2, TPM1, TTN, WWTR1.
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Canalopathies I 7 studies

Channelopathies are genetic disorders of the heart’s ion channels, which control the heart’s electrical activity and can therefore cause heart rhythm disturbances, increasing the patient’s risk of arrhythmias and sudden death. We offer a general targeted exome analysis that includes genes associated with the most common channelopathies, such as long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia, among other related conditions, or a targeted analysis of each of these conditions.
ABCC9, ACTC1, AKAP10, AKAP9, ALG10B, ALPK3, ANK2, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CLCA2, DES, DMD, DPP6, DSC2, DSG2, DSP, EMD, GAA, GATA4, GATA5, GJA5, GJC1, GLA, GNB2, GNB5, GPC3, GPD1L, HADHA, HCN4, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ3, KCNJ5, KCNJ8, KCNQ1, LAMP2, LMNA, MYH6, MYH7, MYL4, NAA10, NKX2-5, NPPA, NUP155, PITX2, PKP2, PRKAG2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCNN1A, SEMA3A, SLC22A5, SLC4A3, SLMAP, SNTA1, TBX3, TBX5, TECRL, TNNI3K, TRDN, TRPM4, TSPYL1, TTN, TTR, ZFHX3.
AKAP9, ALG10B, ALPK3, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, NAA10, RYR2, SCN4B, SCN5A, SLC22A5, SNTA1, TECRL, TRDN.
CACNA1C, CACNA1D, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1, SLC22A5, SLC4A3.
ABCC9, AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNE5, KCNJ8, PKP2, RANGRF, SCN1B, SCN10A, SCN2B, SCN3B, SCN5A, SCNN1A, SEMA3A, SLMAP, TRPM4.
ANK2, CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TECRL, TRDN.
ACTC1, AKAP10, CACNA1D, CLCA2, DES, DMD, EMD, GAA, GJA5, GJC1, GLA, GNB2, HCN4, KCNJ2, LAMP2, LMNA, MYH6, MYL4, NKX2-5, PRKAG2, SCN1B, SCN5A, SLC22A5, TBX5, TNNI3K, TRPM4, TTR.
ABCC9, ACTC1, EMD, GATA4, GATA5, GJA5, GJC1, GNB2, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ3, KCNJ5, KCNQ1, LMNA, MYH7, MYL4, NKX2-5, NPPA, NUP155, PITX2, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TBX5, TTN, TTR, ZFHX3.
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RASopathies I 1 study

RASopathies refer to a group of syndromes whose genetic cause lies in the alteration of the Ras/MAPK cellular signaling pathway. Their clinical manifestations include cardiac defects in more than 50% of patients. This targeted exome analysis includes the genes associated with Noonan syndrome, cardiofacio-cutaneous syndrome, Costello syndrome, and Legius syndrome, among other RASopathies.

A2ML1, ALPK3, BRAF, CBL, FGD1, HRAS, JAG1, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, RRAS2, SHOC2, SOS1, SOS2, SPRED1, SPRY1, SYNGAP1.

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Aortic Diseases I 1 study

Aortic disorders are a group of genetically caused conditions associated with a predisposition to, or the development of, aneurysms, dissections, and ruptures of the aorta or other vessels in the arterial system. This targeted exome includes genes associated with Marfan, Ehlers-Danlos, Loeys-Dietz, and Shprintzen-Goldberg syndromes, among others, as well as non-syndromic forms such as thoracic aortic aneurysms and familial aortic dissections (FAD).
ABCC6, ABL1, ACTA2, ACVR1, ADAMTS2, ADAMTSL4, ALDH18A1, ARIH1, ATP6V0A2, ATP7A, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL4A5, COL5A1, COL5A2, DSE, EFEMP2, ELN, EMILIN1, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, FOXE3, GAA, GATA5, HCN4, HNRNPK, HRAS, IPO8, KCNJ8, LOX, LTBP2, LTBP3, MAT2A, MED12, MFAP5, MMADHC, MTR, MTRR, MYH11, MYLK, NKX2-5, NOTCH1, PKD1, PKD2, PLOD1, PRKG1, PTPN11, ROBO4, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TBX20, TGFB2, TGFB3, TGFBR1, TGFBR2, THSD4, TNXB, ZDHHC9.
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Pulmonary hypertension I: 1 study

Pulmonary hypertension is a rare disease characterized by an abnormal increase in pulmonary artery pressure resulting from the thickening of the walls of the pulmonary arteries. This condition forces the heart to work harder to pump blood through these narrowed pulmonary arteries, leading to symptoms of heart failure. This targeted exome includes the main genes associated with pulmonary hypertension.
ACVRL1, ATP13A3, BMPR1B, BMPR2, CAPNS1, CAV1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, NOTCH3, RASA1, SMAD1, SMAD4, SMAD9, TBX4.
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Hypercholesterolemia I 1 study

Hypercholesterolemia refers to high blood cholesterol levels and is associated with an increased risk of cardiovascular disease at a young age. Because of its polygenic origin, we offer genetic testing for genes associated with hypercholesterolemia, including familial hypercholesterolemia.
ABCG5, ABCG8, APOA2, APOB, APOE, CCDC115, CYP7A1, EPHX1, LDLR, LDLRAP1, LIPA, LPA, LRP6, PCSK9, STAP1, TMEM199.
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Congenital heart disease I 1 study

Congenital heart defects are a group of conditions characterized by structural abnormalities of the heart resulting from defects in its development during the embryonic period. The vast majority of congenital heart diseases have a multifactorial etiology, although it is estimated that 8–10% of cases are due to a chromosomal abnormality, and 3–5% are associated with a monogenic syndrome. We offer testing for 247 genes associated with syndromic and non-syndromic congenital heart diseases.
A2ML1, ABCC9, ABL1, ACTA1, ACTA2, ACTC1, ACVR1, ACVR2B, ACVRL1, ADAM17, ADAMTS10, ADAMTS19, ALDH1A2, ANK2, ANKRD1, ANKS6, ARHGAP31, ARL2BP, B3GAT3, BCL9, BCOR, BMP10, BMPR2, BRAF, CASZ1, CBL, CCDC39, CCDC40, CDH2, CFAP298, CFAP300, CFAP53, CFC1, CFL2, CHD7, CHRD, CITED2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CREBBP, CRELD1, CRIPTO, CTNND1, DAW1, DLL4, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAL1, DTNA, EFEMP2, EHMT1, ELN, ENG, EOGT, EP300, ETS1, EVC, EVC2, EYA4, FBLN2, FBN1, FBN2, FLNA, FLT4, FOXA2, FOXC1, FOXF1, FOXH1, FOXJ1, FOXP1, GAA, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, GPC3, HACD1, HAND1, HAND2, HAS2, HCCS, HEY2, HRAS, HYAL2, IRX4, ISL1, ITGA7, JAG1, KANSL1, KCNA5, KCNE1, KCNE2, KCNJ2, KCNJ8, KCNK3, KCNQ1, KDM5A, KDM6A, KLF13, KLHL40, KLHL41, KMT2D, KRAS, LDB3, LEFTY2, LMNA, LOX, LRRC56, LZTR1, MAP2K1, MAP2K2, MAP3K20, MCTP2, MDFIC, MED12, MED13L, MEGF8, MEIS2, MESP1, MFAP5, MGP, MIB1, MMP21, MRAS, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYLK, NEB, NEK10, NEXN, NF1, NIPBL, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NOTCH3, NPHP4, NR2F2, NRAS, NRP1, ODAD1, ODAD2, ODAD3, ODAD4, PDGFRA, PITX2, PKD1L1, PKP2, PLD1, PLEKHM2, PLOD1, PRDM16, PRKD1, PRKG1, PTPN11, RAF1, RARB, RASA1, RASA2, RBFOX2, RBM10, RIT1, RNF40, ROBO1, ROCK2, RPSA, RRAS, RRAS2, SALL1, SALL4, SCN5A, SELENON, SHOC2, SHROOM3, SKI, SLC2A10, SMAD1, SMAD2, SMAD3, SMAD4, SMAD6, SMAD7, SMAD9, SMARCA4, SMC3, SNAI1, SOS1, SOS2, SOX17, SOX2, SOX7, SPAG1, SPRED1, SPRED2, SRF, STRA6, TAB2, TBX1, TBX20, TBX3, TBX4, TBX5, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, TLL1, TNNC1, TNNI3, TNNI3K, TNNT1, TNNT2, TOPBP1, TPM1, TPM2, TPM3, TRAF7, TTN, UPF3B, USP34, VEGFA, WDR5, ZDHHC9, ZFPM2, ZIC1, ZIC3.
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