Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 GeneticVariation disease BEFREE The severe intestinal developmental abnormality culminating in microcolon and early terminal ileum perforation/necrotizing enterocolitis is a novel finding not previously associated with RTD, which points to a role of the renin-angiotensin system in gut development. 30071301 2019
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 GeneticVariation disease BEFREE Inherited renal tubular dysgenesis (RTD) is caused by mutations in the genes encoding the components of the renin-angiotensin system (RAS). 25414114 2015
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 GermlineCausalMutation disease ORPHANET Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. 22095942 2012
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 GeneticVariation disease BEFREE Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. 22095942 2012
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 Biomarker disease BEFREE This is the first characterization of the mechanisms underlying loss of renin function in RTD. 21036942 2011
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 GeneticVariation disease BEFREE Homozygous or compound heterozygous mutations in renin (REN) cause renal tubular dysgenesis, which is characterized by death in utero due to kidney failure and pulmonary hypoplasia. 21903317 2011
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 GeneticVariation disease BEFREE Inherited renal tubular dysgenesis (RTD) is caused by mutations in the genes encoding components of the renin-angiotensin cascade: angiotensinogen, renin, angiotensin-converting enzyme (ACE), and angiotensin ΙΙ receptor type 1. 20607303 2010
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 Biomarker disease BEFREE Renin-angiotensin system in kidney development: renal tubular dysgenesis. 19924102 2010
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 Biomarker disease GENOMICS_ENGLAND Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. 19664745 2009
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 GeneticVariation disease BEFREE Genetic and functional analysis of the renin-angiotensin system contributes to the diagnosis of RTD. 17443344 2008
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 GermlineCausalMutation disease ORPHANET We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1. 16116425 2005
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 GeneticVariation disease BEFREE Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. 16116425 2005
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 Biomarker disease CTD_human We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1. 16116425 2005
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 GeneticVariation disease UNIPROT We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1. 16116425 2005
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 CausalMutation disease CLINVAR
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5972
Gene Symbol: REN
REN
0.790 Biomarker disease HPO
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.760 GeneticVariation disease BEFREE We report three patients from two unrelated families with RTD due to pathogenic variants of the angiotensin-converting enzyme (ACE) gene, in whom RTD was associated with microcolon. 30071301 2019
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.760 GeneticVariation disease BEFREE Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis. 30058238 2018
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.760 GeneticVariation disease BEFREE Subsequently, two compound heterozygous deletions leading to frameshift mutations were identified in the angiotensin 1-converting enzyme gene ACE; exon 5:c.820_821delAG (p.Arg274Glyfs*117) and exon24: c.3521delG (p.Gly1174Alafs*12), consistent with a diagnosis of renal tubular dysgenesis. 25899979 2015
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.760 GeneticVariation disease BEFREE In this report, we present the effect of different ACE mutations associated with RTD on ACE intracellular trafficking, secretion and enzymatic activity. 24163131 2014
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.760 CausalMutation disease CLINVAR Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. 22095942 2012
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.760 GermlineCausalMutation disease ORPHANET Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. 22095942 2012
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.760 GeneticVariation disease BEFREE Here, we report the identification of a novel ACE mutation (Q1069R) in an RTD patient. 21695262 2011
Entrez Id: 1636
Gene Symbol: ACE
ACE
0.760 GeneticVariation disease BEFREE Patient with RTD in Lisbon, Portugal, maintained by peritoneal dialysis since birth, was found to have a homozygous substitution of Arg for Glu at position 1069 in the C-terminal domain of ACE (Q1069R) resulting in absence of plasma ACE activity; both parents and a brother who are heterozygous carriers of this mutation had exactly half-normal plasma ACE activity compared to healthy individuals. 20454656 2010