. 2016 Sep 21;24(12):1797–1802. doi: 10.1038/ejhg.2016.118

Table 1. Investigated genes and diseases.

Disease	Genes	Other associated diseases
ARVC	DSC2 (NM_024422.3), DSG2^a(NM_001943.3), DSP^a (NM_004415.2), JUP (NM_021991.2), PKP2^b (NM_004572.3), RPSA (NM_001012321.1), TGFB3 (NM_003239.2), TMEM43 (NM_024334.2)	^aDCM, ^bBrS
BrS	CACNA1C (NM_199460.3), CACNB2 (NM_201596.2), GPD1L^c (NM_015141.3), HCN4^d (NM_005477.2), KCND3 (NM_004980.4), KCNE3 (NM_005472.4), KCNJ8^e (NM_004982.3), MOG1 (NM_016492.4), SCN1B^f,g (NM_199037.3), SCN3B^f (NM_018400.3), SCN4B^f,h (NM_174934.3), SCN5A^{a,d,e,f,g,h,i} (NM_001099404.1), TRPM4^g (NM_017636.3)	^aDCM, ^cRBBB, ^dSSS, ^eSIDS, ^fFAF, ^gCCD, ^hLQTS, ⁱPFVF
CPVT	CASQ2 (NM_001232.3), RYR2^j (NM_001035.2)	^jARVC
CTD	SLC22A5 (NM_003060.3)
DCM	ABCC9^f (NM_005691.3), ACTN2^k (NM_001103.3), BAG3 (NM_004281.3), CTF1 (NM_001330.3), CRYAB (NM_001289807.1), DES (NM_001927.3), DMD (NM_004006.2), EYA4 (NM_172105.3), FHL2 (NM_001450.3), FKTN (NM_006731.2), GAA (NM_000152.3), ILK (NM_001014794.2), LAMA4 (NM_001105206.2), LDB3^k,l (NM_001171610.1), LMNA^j (NM_170707.2), MYPN^k (NM_001256267.1), NEBL (NM_006393.2), NEXN^k (NM_144573.3), PLN^k (NM_002667.3), PRDM16^l (NM_022114.3), PSEN1 (NM_000021.3), PSEN2 (NM_000447.2), RBM20 (NM_001134363.2), RPS7 (NM_001011.3), SDHA (NM_004168.2), SGCD (NM_000337.5), STARD3 (NM_006804.3), TAZ^l (NM_000116.3), TCAP (NM_003673.3), TMPO (NM_003276.2), TNNC1^k (NM_003280.2), TNNI3^k (NM_000363.4)	^fFAF, ^jARVC, ^kHCM, ^lLVNC
FAF	CACNA1D (NM_000720.3), GJA5 (NM_005266.6), HCN1^d (NM_021072.3), KCNA5 (NM_002234.3), NPPA (NM_006172.3), RANGRF (NM_016492.4), SCN2B (NM_004588.4)	^dSSS
FD	GLA (NM_000169.2)
HCM	ACTC1^a,l (NM_005159.4), ANKRD1 (NM_014391.2), CALR3 (NM_145046.4), CAV3^m (NM_001234.4), CSRP3^a (NM_003476.4), JPH2 (NM_020433.4), LAMP2 (NM_001122606.1), MYBPC3^a,l (NM_000256.3), MYH6^a,d (NM_002471.3), MYH7^a,l (NM_000257.2), MYL2 (NM_000432.3), MYL3 (NM_000258.2), MYLK2 (NM_033118.3), MYOZ2 (NM_016599.4), PRKAG2ⁿ (NM_016203.3), SLC25A4 (NM_001151.3), TNNT2^a,l (NM_001276345.1), TPM1^a,l (NM_000366.5), TTN^a (NM_001267550.1), VCL^a (NM_014000.2)	^aDCM, ^dSSS, ^lLVNC, ^mLQTS, ⁿWPW
LQTS	AKAP9 (NM_005751.4), ANK2 (NM_001148.4), CALM1^e,p (NM_006888.4), CALM2^e,p (NM_001743.4), CALM3^e (NM_005184.2), KCNE1 (NM_000219.5), KCNE1L^f (NM_012282.2), KCNE2^f (NM_172201.1), KCNE4 (NM_080671.3), KCNH2^o (NM_000238.3), KCNJ2^f,o (NM_000891.2), KCNJ5 (NM_000890.3), KCNQ1^f,o (NM_000218.2), SNTA1 (NM_003098.2)	^eSIDS, ^fFAF, ^oSQTS, ^pCPVT
LVNC	DTNA (NM_001390.4)
PFVF	DPP6 (NM_130797.3)

Abbreviations: ARVC, arrhythmogenic right ventricular cardiomyopathy; BrS, Brugada syndrome; CCD, cardiac conduction disease; CPVT, catecholaminergic polymorphic ventricular tachycardia; CTD, carnitine transporter deficiency; DCM, dilated cardiomyopathy; ERS, early repolarization syndrome; FAF, familial atrial fibrillation, FD, Fabry disease; HCM, hypertrophic cardiomyopathy; LL, Lenegre-Lev syndrome; LQTS, long QT syndrome; LVNC, left ventricular non-compaction; PFVF, paroxysmal familial ventricular fibrillation; RBBB, right bundle branch block; SIDS, sudden infant death syndrome; SSS, sick sinus syndrome; SQTS, short QT syndrome; WPW, Wolff–Parkinson–White Syndrome.