



Cardiología
Resultado búsqueda

Amiloidosis familiar
21 genes
APOA1, APOA2, APP, B2M, CST3, F10, FGA, GPNMB, GSN, IL31RA, ITM2B, LYZ, MEFV, NLRP3, OSMR, PRNP, RET, TACSTD2, TGFBI, TNFRSF1A, TTR
Amiloidosis hereditaria por transtiretina
1 genes
TTR
Aortopatías
61 genes
ABCC6, ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, ALDH18A1, ATP7A, B3GAT3, B4GALT7, BGN, CBS, CHST14, COL1A1, COL1A2, COL2A1, COL3A1, COL4A5, COL5A1, COL5A2, COLGALT1, EFEMP2, ELN, ENPP1, FBLN5, FBN1, FBN2, FKBP14, FLNA, FOXE3, GAA, GATA5, HCN4, HRAS, KCNJ8, LOX, LTBP2, MAT2A, MED12, MFAP5, MYH11, MYLK, NKX2-5, NOTCH1, PLOD1, PRKG1, PTPN11, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, ZDHHC9, ZNF469
Arritmia ventricular y muerte súbita sin cardiopatía estructural
90 genes
ABCC9, ACTC1, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CAVIN1, CAVIN4, CDH2, DES, DSC2, DSG2, DSP, EMD, FGF12, FHL2, FLNC, GAA, GATA5, GJA1, GJA5, GLA, GNB2, GPD1L, GREM2, HCN4, IRX3, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNK3, KCNQ1, LAMP2, LDB3, LMNA, MYBPHL, MYH6, MYH7, NKX2-5, NKX2-6, NOS1AP, NPPA, PITX2, PKP2, PLN, PPA2, PRKAG2, RANGRF, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLC22A5, SLMAP, SNTA1, SYNE2, TBX5, TECRL, TMEM175, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRPM4, TTR, ZFHX3
Arritmias cardiacas
218 genes
A2ML1, AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGPAT2, AKAP9, ALMS1, ANK2, ANK3, ANKRD1, ANO5, ATP5F1E, ATPAF2, BAG3, BRAF, BSCL2, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CAPN3, CASQ2, CAV3, CAVIN1, CAVIN4, CHRM2, COA5, COA6, COL7A1, COQ2, COX15, COX6B1, CRYAB, CSRP3, CTNNA3, CTNNB1, DES, DLD, DMD, DNAJC19, DNM1L, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FAH, FGF12, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXD4, FOXRED1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GFM1, GJA1, GJA5, GLA, GLB1, GNPTAB, GPD1L, GREM2, GUSB, HCN4, HFE, HRAS, IDH2, ILK, IRX3, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNK3, KCNQ1, KLF10, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LIAS, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOT, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NKX2-6, NNT, NOS1AP, NOTCH1, NPPA, NRAS, OBSCN, OBSL1, OPA3, PDHA1, PDLIM3, PERP, PHKA1, PITX2, PKP2, PKP4, PLN, PMM2, PPP1R13L, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RASA2, RBM20, RIT1, RRAS, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SGCA, SGCB, SGCD, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLMAP, SNTA1, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TAZ, TBX20, TBX5, TCAP, TGFB3, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, VCL, XK, ZFHX3
Cardiopatías y enfermedades cardiovasculares
380 genes
A2ML1, AARS2, ABCA1, ABCB1, ABCC9, ABCG1, ABCG5, ABCG8, ACAD9, ACADVL, ACTA1, ACTA2, ACTC1, ACTN2, ACVR1, ACVR2B, ACVRL1, ADAMTS2, ADAMTSL4, AGK, AGL, AGPAT2, AKAP9, AKT2, ALMS1, AMPD1, ANGPTL3, ANK2, ANK3, ANKRD1, ANO5, APOA1, APOA5, APOB, APOC2, APOC3, APOE, ASPH, ATP5F1E, ATP7A, ATPAF2, B3GAT3, B4GALT7, BAG3, BLK, BMP10, BMPR1A, BMPR1B, BMPR2, BRAF, BSCL2, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CAPN3, CASQ2, CAV1, CAV3, CAVIN1, CAVIN4, CBL, CBS, CEL, CETP, CFC1, CH25H, CHD7, CHRM2, CHST14, CIDEC, CITED2, COA5, COA6, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL7A1, COQ2, COX15, COX6B1, CPT2, CREBBP, CRELD1, CRYAB, CSRP3, CTNNA3, CTNNB1, CYP2D6, CYP3A4, CYP3A5, DES, DLD, DMD, DNAJC19, DNM1L, DOLK, DSC2, DSG2, DSP, DTNA, EFEMP2, EHMT1, EIF2AK3, EIF2AK4, ELAC2, ELN, EMD, ENG, EP300, EVC, EYA4, FAH, FBN1, FBN2, FGF12, FHL1, FHL2, FHOD3, FKBP14, FKRP, FKTN, FLNA, FLNC, FOXC1, FOXD4, FOXF1, FOXH1, FOXP1, FOXP3, FOXRED1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GCK, GDF1, GDF2, GFM1, GJA1, GJA5, GLA, GLB1, GLIS3, GNPTAB, GPD1, GPD1L, GPIHBP1, GREM2, GUSB, HAND2, HCN4, HFE, HNF1A, HNF1B, HNF4A, HRAS, IDH2, IER3IP1, ILK, INS, INSIG2, INSR, IRX3, IRX4, ISL1, JAG1, JPH2, JUP, KANSL1, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ11, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNK3, KCNQ1, KLF10, KLF11, KMT2D, KRAS, LAMA2, LAMA4, LAMP2, LCAT, LDB3, LDLR, LDLRAP1, LEFTY2, LEP, LIAS, LIPA, LIPC, LMF1, LMNA, LPA, LPL, LRP6, LZTR1, MAP2K1, MAP2K2, MCTP2, MED12, MED13L, MEF2A, MFAP5, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MTTP, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLIP, MYLK, MYLK2, MYOM1, MYOT, MYOZ2, MYPN, NEBL, NEUROD1, NEUROG3, NEXN, NF1, NKX2-5, NKX2-6, NNT, NODAL, NOS1AP, NOTCH1, NOTCH2, NOTCH3, NPC1L1, NPHP4, NPPA, NRAS, OBSCN, OBSL1, OPA3, PAX4, PCDH15, PCSK9, PDGFRA, PDHA1, PDLIM3, PDX1, PERP, PHKA1, PITX2, PKP2, PKP4, PLIN1, PLN, PLOD1, PLTP, PMM2, PNPLA2, PPARA, PPARG, PPP1R13L, PRDM16, PRKAG2, PRKG1, PSEN1, PSEN2, PTF1A, PTPN11, PYGM, RAF1, RANGRF, RASA1, RASA2, RBM20, RFX6, RIT1, RRAS, RYR1, RYR2, SALL4, SAR1B, SCARB1, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SGCA, SGCB, SGCD, SHOC2, SKI, SLC22A5, SLC22A8, SLC25A3, SLC25A4, SLC25A40, SLC2A10, SLC2A2, SLC39A13, SLCO1B1, SLMAP, SMAD1, SMAD3, SMAD4, SMAD6, SMAD9, SNTA1, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TAB2, TAZ, TBC1D4, TBX1, TBX20, TBX5, TCAP, TDGF1, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOPBP1, TOR1AIP1, TPM1, TRDN, TRIB1, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, UPF3B, VCL, WFS1, XK, ZDHHC9, ZFHX3, ZFPM2, ZIC3, ZMPSTE24
Dextrocardia y anomalía conotruncal
191 genes
ACTG2, ACVR2B, AHI1, ALX3, ANKS6, ARHGAP31, ARID1B, ARL13B, ARL2BP, ARMC4, ARMC9, ARVCF, B9D1, B9D2, BAZ1B, BCOR, BRAF, BRCA2, BRIP1, CACNA1C, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC22, CCDC39, CCDC40, CEP104, CEP120, CEP290, CEP41, CFAP298, CFAP53, CFC1, CHD4, CHD7, CHRM3, CITED2, CLIP2, COL18A1, COL2A1, COMT, COX7B, CPLANE1, CRELD1, CSPP1, DACT1, DDX11, DGCR2, DGCR6, DGCR8, DLL4, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DOCK6, DYNC2LI1, EHMT1, ELN, EOGT, ERCC4, ESS2, EVC, EVC2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FIG4, FOXC2, FOXF1, GABRD, GATA4, GATA5, GATA6, GDF1, GJA5, GP1BB, GTF2I, GTF2IRD1, HES7, HIBCH, HIRA, HOXD13, HYLS1, INPP5E, INVS, JAG1, JMJD1C, KCNAB2, KIAA0556, KIAA0586, LETM1, LIMK1, LMNA, LRRC6, LZTFL1, MAD2L2, MCTP2, MEGF8, MKKS, MKS1, MMP21, NEK8, NELFA, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NR2F2, NSD2, OTX2, PALB2, PEX19, PIEZO2, PIGL, PIGN, PKD1L1, PKD2, PQBP1, PRDM16, PRRX1, PTPN22, RAB23, RAD51, RAD51C, RBM10, RBM8A, RBPJ, RERE, RFC2, ROR2, RPGRIP1, RPGRIP1L, RPL11, RPL5, RREB1, SALL1, SALL4, SEC24C, SEMA3E, SF3B4, SHH, SKI, SLC19A2, SLX4, SPAG1, SPECC1L, STRA6, TAB2, TBL2, TBX1, TCTN1, TCTN2, TGDS, TMEM107, TMEM216, TMEM231, TMEM237, TMEM260, TMEM67, TTC25, TTC37, TTC8, UBE2T, UBR1, UFD1, WASHC5, WDPCP, WT1, XRCC2, ZFPM2, ZIC3, ZMPSTE24, ZMYND10, ZNF423
Hipertensión arterial-susceptibilidad
11 genes
ADD1, AGT, AGTR1, ATP1B1, CYP3A5, ECE1, GNB3, NOS2, NOS3, PTGIS, RGS5
Malformación cardiaca
119 genes
ABL1, ACTC1, ACVR1, ACVR2B, ADAMTS5, ANKRD1, APC, ARHGAP31, ATXN2, BRAF, CCDC154, CDK13, CELA1, CFAP410, CFAP53, CFC1, CHD4, CHD7, CITED2, CRELD1, CTBP1, DGCR2, DGCR6, DGCR8, DIS3L2, ELN, ESS2, EVC, EVC2, FBN1, FGFR1, FLNA, FLT4, FOXH1, FRYL, GATA4, GATA5, GATA6, GDF1, GJA1, GJA5, GPBAR1, GPC5, HAND1, HAND2, HRAS, JAG1, JARID2, KDM5B, KDM6A, KMT2D, KRAS, LEFTY2, MAML1, MAP2K1, MAP2K2, MED13L, MMP21, MTHFR, MYBPC3, MYH11, MYH6, MYH7, MYOCD, NACA, NF1, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NOTCH3, NR2F2, NRAS, NSD1, PAX8, PCDHB4, PEX5, PLRG1, POGZ, PRKD1, PTEN, PTPN11, RAF1, RBFOX2, RNF20, RPL5, SAMD11, SEMA3E, SHOC2, SHROOM3, SMAD2, SMAD6, SMARCA4, SMG9, SMURF1, SOS1, SOX9, TAB2, TBX1, TBX18, TBX20, TBX5, TDGF1, TFAP2B, TGFBR1, TGFBR2, TLL1, TMEM260, UBE2B, VCAN, VEGFA, WDR5, WNT4, ZEB2, ZFPM2, ZIC3
Miocardiopatía arritmogénica del ventrículo derecho
31 genes
BAG3, CASQ2, CDH2, CTNNA1, CTNNA3, CTNNB1, DES, DSC2, DSG2, DSP, EMD, FLNC, ILK, ISM2, JUP, LDB3, LEMD2, LMNA, MYH7, NKX2-5, PERP, PKP2, PKP4, PLN, PPP1R13L, RBM20, RYR2, SCN5A, TGFB3, TMEM43, TTN
Miocardiopatía dilatada
121 genes
ABCC9, ACTA1, ACTC1, ACTN2, AKT1, ALMS1, ALPK3, ANKRD1, ANO5, BAG3, BRAF, CALR3, CASZ1, CAV3, CAVIN4, CCN4, CHRM2, COL7A1, CRYAB, CSRP3, DES, DMD, DNAJC19, DNM1L, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FBXO32, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GATA5, GATA6, GATAD1, GLA, GLB1, GSK3B, GYG1, HFE, IDH2, ILK, JARID2, JUP, KCNJ2, LAMA2, LAMA4, LAMP2, LDB3, LMNA, LMOD2, MEF2C, MIB1, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYOT, MYPN, NEBL, NEXN, NKX2-5, NONO, NRAP, OBSCN, OPA3, PDLIM3, PKD2, PKP2, PLN, PPA2, PPCS, PPP1R13L, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, QRSL1, RAF1, RBM20, RBM24, RYR2, SCN5A, SDHA, SGCA, SGCB, SGCD, SGCG, SLC22A5, SPEG, SYNE1, SYNE2, TAZ, TBX20, TCAP, TMEM43, TMOD1, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRIM63, TTN, TTR, TXNRD2, VCL, XK, ZBTB17
Miocardiopatía hipertrófica
118 genes
AARS2, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGPAT2, AKT1, ALPK3, ANK2, ANKRD1, ATP5F1E, ATPAF2, BAG3, BRAF, BSCL2, C10orf71, CACNA1C, CALR, CALR3, CASQ2, CAV3, CAVIN4, CBL, CCN4, CDH2, COA5, COA6, COQ2, COX15, COX6B1, CRYAB, CSRP3, DES, DLD, DSP, ELAC2, FAH, FHL1, FHL2, FHOD3, FLNC, FOXRED1, FXN, GAA, GATA6, GFM1, GLA, GLB1, GNPTAB, GUSB, GYG1, HRAS, JPH2, KCNJ8, KLF10, KLHL24, KRAS, LAMP2, LDB3, LIAS, LMNA, LZTR1, MAP2K1, MAP2K2, MEF2C, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, NEXN, NF1, NRAS, PDHA1, PDLIM3, PHKA1, PLN, PMM2, PPA2, PPP1CB, PRKAG2, PTPN11, QRSL1, RAF1, RIT1, SCO2, SHOC2, SLC22A5, SLC25A3, SLC25A4, SOS1, SOS2, SURF1, TAZ, TCAP, TMEM70, TMOD1, TNNC1, TNNI3, TNNT2, TPM1, TRIM54, TRIM63, TSFM, TTN, TTR, VCL
Miocardiopatía no compactada
49 genes
ACTC1, HCN4, MYBPC3, MYH7, NKX2-5, TAZ, TBX20, TTN, ACTN2, DMD, DNAJC19, DTNA, FHL1, FHOD3, LDB3, LMNA, MYL2, PLN, PRDM16, RYR2, TNNI3, TNNT2, TPM1, AKT1, ANKRD1, BAG3, CASQ2, CDH2, CSRP3, DSP, FLNC, JARID2, KCNH2, KCNQ1, KRAS, LAMP2, MIB1, MLYCD, MYH6, MYL3, NNT, NONO, NOTCH1, PTPN11, RBM20, SPEG, TNNC1, TRPM4, WT1
Miocardiopatías
209 genes
A2ML1, AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGPAT2, AKT1, ALMS1, ALPK3, ANK2, ANKRD1, ANO5, ATP5F1E, ATPAF2, BAG3, BRAF, BSCL2, C10ORF71, CACNA1C, CALR3, CASQ2, CASZ1, CAV3, CAVIN4, CBL, CCN4, CDH2, CHRM2, COA5, COA6, COL7A1, COQ2, COX15, COX6B1, CRYAB, CSRP3, CTNNA1, CTNNA3, CTNNB1, DES, DLD, DMD, DNAJC19, DNM1L, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FAH, FBXO32, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXD4, FOXRED1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GFM1, GLA, GLB1, GNPTAB, GSK3B, GUSB, GYG1, HCN4, HFE, HRAS, IDH2, ILK, ISM2, JARID2, JPH2, JUP, KAT6B, KCNH2, KCNJ2, KCNJ8, KCNQ1, KLF10, KLHL24, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LIAS, LMNA, LMOD2, LZTR1, MAP2K1, MAP2K2, MAP3K8, MEF2C, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOT, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NNT, NONO, NOTCH1, NRAP, NRAS, OBSCN, OBSL1, OPA3, PDHA1, PDLIM3, PERP, PHKA1, PKD2, PKP2, PKP4, PLN, PMM2, PPA2, PPCS, PPP1CB, PPP1R13L, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, QRSL1, RAF1, RASA1, RASA2, RBM20, RBM24, RIT1, RRAS, RYR2, SCN5A, SCO2, SDHA, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A3, SLC25A4, SOS1, SOS2, SPEG, SPRED1, SPRY1, SURF1, SYNE1, SYNE2, SYNGAP1, TAZ, TBX20, TCAP, TGFB3, TMEM43, TMEM70, TMOD1, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRIM54, TRIM63, TSFM, TTN, TTR, TXNRD2, VCL, WT1, XK, ZBTB17
Muerte súbita
250 genes
A2ML1, AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGPAT2, AKAP9, AKT1, ALMS1, ALPK3, ANK2, ANK3, ANKRD1, ANO5, ATP5F1E, ATPAF2, BAG3, BRAF, BSCL2, C10ORF71, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR, CALR3, CASQ2, CASZ1, CAV3, CAVIN1, CAVIN4, CBL, CCN4, CDH2, CHRM2, COA5, COA6, COL7A1, COQ2, COX15, COX6B1, CRYAB, CSRP3, CTNNA1, CTNNA3, CTNNB1, DES, DLD, DMD, DNAJC19, DNM1L, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FAH, FBXO32, FGF12, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXRED1, FXN, GAA, GATA4, GATA5, GATA6, GATAD1, GFM1, GJA1, GJA5, GLA, GLB1, GNB2, GNPTAB, GPD1L, GREM2, GSK3B, GUSB, GYG1, HCN4, HFE, HRAS, IDH2, ILK, IRX3, ISM2, JARID2, JPH2, JUP, KAT6B, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, KLF10, KLHL24, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LIAS, LMNA, LMOD2, LZTR1, MAP2K1, MAP2K2, MAP3K8, MEF2C, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYBPHL, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOT, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NKX2-6, NNT, NONO, NOS1AP, NOTCH1, NPPA, NRAP, NRAS, OBSCN, OPA3, PDHA1, PDLIM3, PERP, PHKA1, PITX2, PKD2, PKP2, PKP4, PLN, PMM2, PPA2, PPCS, PPP1CB, PPP1R13L, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, QRSL1, RAF1, RANGRF, RASA1, RASA2, RBM20, RBM24, RIT1, RRAS, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLMAP, SNTA1, SOS1, SOS2, SPEG, SPRED1, SPRY1, SURF1, SYNE1, SYNE2, SYNGAP1, TAZ, TBX20, TBX5, TCAP, TECRL, TGFB3, TMEM175, TMEM43, TMEM70, TMOD1, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM54, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, VCL, WT1, XK, ZBTB17
Síndrome de Brugada
27 genes
CACNA1C, CACNB2, SCN5A, ANK2, CACNA2D1, GPD1L, HCN4, KCND3, KCNE3, KCNE5, KCNJ8, SCN1B, SCN2B, TRPM4, ABCC9, ANK3, CACNA1D, FGF12, IRX3, KCND2, KCNH2, PKP2, RANGRF, SCN10A, SCN3B, SCN4B, SLMAP
Síndrome de Loeys-Dietz
7 genes
FBN1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2
Síndrome de Marfan
2 genes
FBN1, TGFBR2
Síndrome de Noonan
37 genes
A2ML1, ACTB, ACTG1, BRAF, CBL, CCNK, CDC42, EPHB4, FGD1, HRAS, KAT6B, KRAS, LZTR1, MAP2K1, MAP2K2, MAP3K8, MRAS, NF1, NF2, NRAS, NSUN2, PPP1CB, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SASH1, SHOC2, SMARCB1, SOS1, SOS2, SPRED1, SPRY1, STAMBP, SYNGAP1
Síndrome de QT largo
32 genes
AKAP9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, CAVIN1, FHL2, HCN4, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SLC22A5, SNTA1, TECRL, TRDN, TRPM4
Telangiectasia hemorrágica hereditaria
5 genes
ACVRL1, ENG, EPHB4, GDF2, SMAD4
Tetralogía de Fallot
6 genes
GATA4, GATA6, JAG1, NKX2-5, TBX1, ZFPM2