PBX1, PBX homeobox 1, 5087

N. diseases: 167; N. variants: 14
Disease: Cakut ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1968949
Disease: Cakut
Cakut 		0.310 Biomarker disease BEFREE PBX1 haploinsufficiency had been reported to lead syndromic congenital anomalies of kidney and urinary tract (CAKUT) in humans. 30910156 2019
CUI: C1968949
Disease: Cakut
Cakut 		0.310 Biomarker disease GENOMICS_ENGLAND PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. 28270404 2017
CUI: C1968949
Disease: Cakut
Cakut 		0.310 Biomarker disease GENOMICS_ENGLAND Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. 28566479 2017