Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
0.310 GeneticVariation disease BEFREE The shared phenotypes between this case and the previously published prenatal cases demonstrate that loss of function mutation in PBX1 should be suspicious in fetus with bilateral renal hypoplasia, oligohydramnios and intrauterine growth retardation (IUGR). 30910156 2019
Entrez Id: 5087
Gene Symbol: PBX1
PBX1
0.310 ChromosomalRearrangement disease ORPHANET PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. 28270404 2017