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Table 2 Genes involved in CNVs related to in heart development

From: Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population

Data resource

Gene number

Hit no./total gene

Gene list for gain (172 genes) in our study

Gene list for loss (113 genes) in our study

MGI database

147

7/285

PAX3, LBX1

CRKL b, GP1BB b, PDLIM3, TBX1 b, TXNRD2 b

Candidate genes§

202

9/285

PAX3, LBX1, MYH11, FGF12

CASP3, CRKL b, PDLIM3, TBX1 b, TXNRD2 b

Genes derived from GO:0072538

(cardiovascular system development)

1957

9/285

PAX3, LBX1, MYH11, PRKCB, IGFBP7

CYSLTR1, LPAR4, CRKL b, TBX1 b, TXNRD2 b

  1. §CHD wiki (47 genes), UCSC Genome Browser (104 genes), literatures (51genes); the overlapping genes between different datasets were merged. bgenes which were included in CNVs related to DiGeorge syndrome
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BMC Medical Genomics

ISSN: 1755-8794

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