Table 3.
Top 10 candidate disease genes and supporting evidence.
| 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 |
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.