Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3
0.600 GeneticVariation disease UNIPROT A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans. 28739660 2017
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. 29100091 2017
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3
0.600 GeneticVariation disease UNIPROT Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. 29100091 2017
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3
0.600 GeneticVariation disease UNIPROT Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. 29100090 2017
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3
0.600 Biomarker disease GENOMICS_ENGLAND Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. 29100091 2017
CUI: C4540497
Disease: RENAL HYPODYSPLASIA/APLASIA 3
RENAL HYPODYSPLASIA/APLASIA 3
0.600 CausalMutation disease CLINVAR