Source: ALL
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
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		0.420 GeneticVariation disease BEFREE Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report. 31424080 2019
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		0.420 GeneticVariation disease BEFREE Finally, we identified variants in novel candidate genes that were associated with perinatal lethality, including de novo mutations in GREB1L in two cases with bilateral renal agenesis, which represents a significant enrichment of such mutations in our cohort. 29261186 2018
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		0.420 GermlineCausalMutation disease ORPHANET Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. 29100090 2017
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		0.420 GermlineCausalMutation disease ORPHANET Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice. 29100091 2017
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		0.420 Biomarker disease HPO
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
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0037205
Disease: Sirenomelia
Sirenomelia 		0.100 Biomarker disease HPO
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		0.100 Biomarker disease HPO
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0.100 Biomarker phenotype HPO
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney 		0.100 Biomarker disease HPO
CUI: C0235831
Disease: Renal Cell Dysplasia
Renal Cell Dysplasia 		0.100 Biomarker disease HPO
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 Biomarker disease HPO
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		0.100 Biomarker disease HPO
CUI: C0266383
Disease: Uterine Anomalies
Uterine Anomalies 		0.100 Biomarker group HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation phenotype CLINVAR