Cardiac Diseases and Related Genes

Heart Muscle Diseases That Can Lead to Heart Failure

MYBPC3, MYH7, TNNI3, TNNT2, ACTA1, ACTC1, ACTN2, ANKRD1, BRAF, CALR3, CASQ2, CAV3, COX15, CRYAB,
FHL1, DES, FXN, GAA, GLA, JPH2, KLF10, LAMP2, LDB3, MAP2K1, MAP2K2, MYH6, MYL2, MYL3, MYLK2,
MYO6, MYOZ2, MYPN, NEXN, PDLIM3, PLN, PRKAG2, PTPN11, RAF1, SLC25A4, SOS1, TCAP, TNNC1, TPM1,
TTN, VCL, KRAS, BRAF, CBL, HRAS, MAP2K1, MAP2K2, NRAS, SHOC2, SCO2, HSPB8

LMNA, MYH6, MYH7, SCN5A, TNNT2, TTN, ABCC9, ACTA1, ACTC1, ACTN2, ALMS1, ANKRD1, BAG3, CRYAB, CSRP3,
DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FKRP, FKTN, GATAD1, HADHA, HFE, ILK, JUP, LAMA2,
LAMA4, LAMP2, LDB3, MURC, MYBPC3, MYPN, NEXN, NPPA, PDLIM3, PKP2, PLN, PRDM16, RBM20, SDHA, SGCB, SGCD,
SGCG, TAZ, TBX20, TCAP, TMPO, TNNC1, TNNI3, TPM1, TXNRD2, VCL, FHL2, ZBTB17, RYR1, SEPN1

MYBPC3, MYH7, ACTC1, CASQ2, DTNA, MIB1, PRDM16, TAZ, TNNT2, TPM1

TNNI3, ACTC1, DES, MYH7, MYL2, MYL3, MYPN, TNNT2, TPM1, TTR

DSC2, DSG2, DSP, PKP2, CTF1, DES, JUP, LMNA, RYR2, TGFB3, TMEM43, TTN

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Predispose People to Potentially Fatal Abnormal Heart Rhythms

SCN5A, GJA5, KCNQ1, ABCC9, DSC2, EMD, HCN4, JPH2, KCNA5, KCND3, KCNE1, KCNE2, KCNE3,
KCNJ2, KCNJ8, LMNA, MYH6, NKX2-5, NPPA, SCN3B, SCN4B, SCN2B

CACNA1C, SCN5A, CACNA2D1, CACNB2, GPD1L, HCN4, KCND3, KCNE3, KCNJ8, PKP2, RANGRF, SCN1B, SCN3B,
KCNE1, KCNE2, KCNH2, KCNQ1, AKAP9, ANK2, CAV3, KCNJ2, KCNJ5, RYR2, SCN4B, SNTA1, DPP6, RYR1

CACNA1C, KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A, AKAP9, ANK2, CAV3, KCNE3, KCNJ2, KCNJ5,
RYR2, SCN4B, SNTA1, TRPM4, CACNA2D1, HSPB8

CACNA1C, ANK2, CASQ2, HCN4, SCN5A, SCN1B, KCNJ2, TRPM4, RYR2, GJA5, NPPA, TBX5, LMNA, MYH6,
CACNA2D1, CACNB2, GPD1L, KCND3, KCNE3, KCNJ8, PKP2, RANGRF, SCN3B

CALM1, RYR2, SCN4B, SNTA1, CASQ2, TRDN, KCNE1, KCNE2, KCNH2, KCNQ1, SCN5A,
AKAP9, ANK2, CACNA1C, CAV3, KCNE3, KCNJ2, KCNJ5

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Syndromes that Cause the Body’s Major Artery to Balloon and Rupture

ELN, NOTCH1, FBN1

ACTA2, COL3A1, EFEMP2, ELN, FBN1, FBN2, MYH11, MYLK, MYLK2, NOTCH1, SLC2A10, SMAD3,
SMAD4, TGFB2, TGFBR1, TGFBR2

FBN1, FBN2, TGFBR1, TGFBR2, SMAD3, TGFB2, CBS, COL5A1, COL5A2, LTBP2

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Genetic Disorders that Result in High Levels of Lipids Circulating in the Blood

ABCG5, LDLR, APOB, APOE, CETP, LDLRAP1, PCSK9, SREBF2, ABCG8, APOA4, ZHX3

APOA5, LPL, APOC2, CREB3L3, GCKR, GPIHBP1, LMF1

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Defects or Abnormalities in the Structure of the Heart that are Present at Birth

MYH6, CRELD1, JAG1, NKX2-5, NODAL, PRKAR1A, TBX5, ZIC3, ABCC9, ACTC1, ELN, FBN2, SALL4, TBX20, TBX3

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