NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280795
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2
HYPOPLASTIC LEFT HEART SYNDROME 2 		0.500 GeneticVariation disease UNIPROT Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. 15810002 2005
CUI: C3280795
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2
HYPOPLASTIC LEFT HEART SYNDROME 2 		0.500 GeneticVariation disease UNIPROT NKX2.5 mutations in patients with congenital heart disease. 14607454 2003
CUI: C3280795
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2
HYPOPLASTIC LEFT HEART SYNDROME 2 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C3280795
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2
HYPOPLASTIC LEFT HEART SYNDROME 2 		0.500 Biomarker disease GENOMICS_ENGLAND