Disease: Unilateral agenesis of kidney ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.310 GeneticVariation disease BEFREE We performed whole-exome sequencing (WES) in eight family members leading to the identification of a novel pathogenic (CADD = 33) c.705G>T missense variant in GREB1L, a gene recently identified as a novel cause of RA. 31424080 2019
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.310 GermlineCausalMutation disease ORPHANET Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. 29100090 2017
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney 		0.310 GermlineCausalMutation disease ORPHANET Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. 29100091 2017