Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9421
Gene Symbol: HAND1
HAND1
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.020 GeneticVariation BEFREE In the present study, the coding exons and flanking introns of the heart and neural crest derivatives expressed transcript 1 (HAND1) gene, which encodes a basic helix‑loop‑helix transcription factor crucial for cardiovascular development, were sequenced in 158 unrelated patients with CHDs, and a de novo heterozygous mutation, p.K132X, was identified in a patient with double outlet right ventricle (DORV), as well as ventricular septal defect. 28112363

2017
Entrez Id: 9421
Gene Symbol: HAND1
HAND1
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.020 GeneticVariation BEFREE This is the first report of mutations in the HAND1 gene in Chinese patients with VSD and provides new insight into the etiology of VSD. 22032825

2012