REN, renin, 5972

N. diseases: 721; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		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
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		0.790 GeneticVariation disease BEFREE Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. 16116425 2005
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		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
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		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
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		0.790 GeneticVariation disease BEFREE Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis. 22095942 2012
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		0.790 GeneticVariation disease BEFREE Genetic and functional analysis of the renin-angiotensin system contributes to the diagnosis of RTD. 17443344 2008
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		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
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		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
CUI: C2751310
Disease: Hyperuricemic Nephropathy, Familial Juvenile 2
Hyperuricemic Nephropathy, Familial Juvenile 2 		0.710 GeneticVariation disease BEFREE Our findings provide insight into the functionality of renin-angiotensin system and stress the importance of renin analysis in families and individuals with early onset hyperuricemia, anemia, and progressive kidney failure. 19664745 2009
CUI: C2751310
Disease: Hyperuricemic Nephropathy, Familial Juvenile 2
Hyperuricemic Nephropathy, Familial Juvenile 2 		0.710 GeneticVariation disease UNIPROT Our findings provide insight into the functionality of renin-angiotensin system and stress the importance of renin analysis in families and individuals with early onset hyperuricemia, anemia, and progressive kidney failure. 19664745 2009
CUI: C2751310
Disease: Hyperuricemic Nephropathy, Familial Juvenile 2
Hyperuricemic Nephropathy, Familial Juvenile 2 		0.710 GeneticVariation disease CLINVAR
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE Excess aldosterone leads to arterial hypertension with suppressed renin, frequently associated to hypokalemia. 31397984 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE The renin-angiotensin-aldosterone system (RAAS) and its polymorphisms apparently confer a genetic risk for uncontrolled AHT. 21471972 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE The genes in the renin-angiotensin system are important physiologic candidates in studies of the genetic susceptibility to hypertension. 14970846 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE Our results parallel earlier observed gender differences of the relationship between other renin-angiotensin system polymorphisms and HTN. 19274051 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE Gene polymorphisms of the renin-angiotensin system and age-related changes in systolic and diastolic blood pressure in subjects with hypertension. 15062885 2004
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE To investigate whether genetic variation in the renin-angiotensin-aldosterone system (RAAS) and kallikrein-bradykinin pathways is related to hypertension and blood pressure (BP) response to angiotensin-converting enzyme (ACE) inhibitor therapy in stable coronary artery disease (CAD) patients. 21157371 2011
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE Three of the loci are in the renin-angiotensin-system, angiotensinogen, ACE, and angiotensin II type 1 receptor, and they have been associated with hypertension in at least 1 previous study. 10904004 2000
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE These results suggest that the Mbo I (+) allele of the renin gene does not increase the risk for hypertension in Japanese. 11409653 2001
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE In a preliminary report, a study of the TaqI polymorphism of the human renin gene did not reveal a significant difference between hypertensive patients with a family history of hypertension and normotensive controls. 2467101 1988
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE Untreated transgenic rats overexpressing the human renin and angiotensinogen genes (dTGR) feature hypertension and severe left ventricular hypertrophy with focal areas of necrosis, and die at age 7 weeks. 10880382 2000
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE Current cardiovascular pharmacotherapy targets maladaptive overactivation of the renin-angiotensin-aldosterone system (RAAS), which occurs throughout the continuum of cardiovascular disease spanning from hypertension to heart failure with reduced ejection fraction. 31786973 2020
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE We evaluated the association between salt-sensitive hypertension and 3 different genetic polymorphisms of the renin-angiotensin system. 10642351 2000
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE Drugs interfering with the renin-angiotensin-aldosterone system (RAAS) improved the prognosis in patients with hypertension, heart failure, diabetes and chronic kidney disease. 28471687 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.600 GeneticVariation group BEFREE In contrast, the renin-angiotensin system affects early cardiovascular development in the same way in each strain, so that it is unlikely to be a cause of hypertension in SHR. 8903603 1995