Table 5.

The 18 candidate genes for VSD identified in this study

Gene	Gene Annotation	CNV type	Hits into gene set	Phenotype (individual number)
CRKL	v-crk avian sarcoma virus CT10 oncogene homolog-like	loss	▪◆⋆△	iVSD (2) cVSD(1)
LBX1	ladybird homeobox 1	gain	▪◆△ο	iVSD
PAX3	paired box 3	gain	▪◆△ο	iVSD
TBX1	T-box 1	loss	▪◆△	iVSD (2) cVSD(1)
PDLIM3	PDZ and LIM domain 3	loss	▪◆	ASD
TXNRD2	thioredoxin reductase 2	loss	▪◆	iVSD (2) cVSD(1)
GP1BB	glycoprotein Ib (platelet), beta polypeptide	loss	◆△	iVSD (2) cVSD(1)
CASP3	caspase 3, apoptosis-related cysteine peptidase	loss	◆⋆△	ASD
MYH11	myosin, heavy chain 11, smooth muscle	gain	◆△ο	iVSD
BMP5	bone morphogenetic protein 5	gain	◆⊿△ο	iVSD
EN1	engrailed homeobox 1	gain	◆⊿△ο	cVSD
PRKCB	protein kinase C, beta	gain	◆⊿△ο	cVSD
FGF12	fibroblast growth factor 12	gain	◆ο	ASD
HIRA	histone cell cycle regulator	loss	⊿△ο	iVSD (2) cVSD(1)
SOX2	SRY (sex determining region Y)-box 2	gain	⊿ο	ASD
DGCR2	DiGeorge syndrome critical region gene 2	loss	⊿ο	iVSD (2) cVSD(1)
PLK1	polo-like kinase 1	gain	△ο	cVSD
EGFL6	EGF-like-domain, multiple 6	loss	△ de novo	cVSD

Note: ▪ MGI database, ◆ Genes within Geneset reported in literature and CHD wiki

⊿ Prioritized by Gene set from literature and CHD wiki

⋆Genes within GO and KEGG pathway

△ Prioritized by Gene set from GO and KEGG pathway

ο Genes significantly enriched by IPA

iVSD: isolated VSD; cVSD: complex VSD