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Table 3 Top 10 candidate disease genes and supporting evidence.

From: Identification of dysfunctional modules and disease genes in congenital heart disease by a network-based approach

Gene Score Description (GeneCards Version 3) Supporting evidence PubMed ID
HAND2 6.87 heart- and neural crest derivatives-expressed protein 2, essential for cardiac morphogenesis, particularly for the formation of the right ventricle and of the aortic arch arteries population study: various mutations found in TOF patients 20819618
FOS 4.09 Nuclear phosphoprotein which interacts JUN/AP-1 transcription factor. Has a critical function in regulating the development of cells destined to form and maintain the skeleton. literature text-mining: cardiac hypertrophy 16696897, 10328763, 12713689, 16259952
NOTCH2 2.5 Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. population study: various mutations found in CHD patients 16773578
MLLT4 1.72 Belongs to an adhesion system which plays a role in the organization of cell-cell adherens junctions (AJs). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton similar functions to FLNA [28, 29]: actin cytoskeleton, and to GJA1 [27]: cell-cell adhensions see reference of supporting evidence
THBS1 1.7 Adhesive glycoprotein that mediates cell-to-cell and cell-to-matrix interactions genetic association database: myocardial infarct 12482844, 16684956
MAPK14 1.69 act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. literature text-mining: pulmonary disease chronic obstructive 19880675, 17959643, 20093202, 19004925
ELK1 1.56 Can form a ternary complex with the serum response factor and the ETS and SRF motifs of the fos serum response element SRF [4] is a cardiac-tissue enriched transcription factor that regulate many cardiac effector genes during embryogenesis see reference of supporting evidence
MAPKAPK5 1.54 similar to MAPK14
DCN 1.52 This protein is a component of connective tissue, binds to type I collagen fibrils, and plays a role in matrix assembly. literature text-mining: myocardial infarction, heart failure, congenital malformation, vascular diseases 17558846, 9162605, 18514055, 9493904
NUMB 1.49 plays a role in the determination of cell fates during development. associate with disease gene NOTCH1 MGI database: targeted knock-out in mice affect cardiovascular systems 11412999
  1. Score is a candidate's GO semantic similarity with disease genes in the same module, and IEA GO terms are excluded. Description briefly introduces the candidate's CHD-related functions. Supporting evidence lists the types of literature support, and PubMed IDs of related articles are provided in the last column for reference.