PBX1, PBX homeobox 1, 5087

N. diseases: 167; N. variants: 14
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 GeneticVariation group BEFREE PBX1 is an essential developmental transcription factor, mutations in which have recently been associated with CAKUTHED syndrome, characterised by multiple congenital defects including congenital heart disease. 31625560 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 GeneticVariation group BEFREE Previously reported patients with congenital anomalies affecting the kidney and urinary tract exhibited deletions and loss of function variants in PBX1. 29036646 2017
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.030 Biomarker group BEFREE Reduction or absence of Pbx2 or Pbx3 leads to Pbx1 haploinsufficiency and specific malformations that resemble tetralogy of Fallot, overriding aorta with ventricular septal defect, and bicuspid aortic valves. 18723445 2008