BLVRA, biliverdin reductase A, 644

N. diseases: 34; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3279964
Disease: Hyperbiliverdinemia
Hyperbiliverdinemia 		0.610 Biomarker disease CTD_human
CUI: C3279964
Disease: Hyperbiliverdinemia
Hyperbiliverdinemia 		0.610 CausalMutation disease CLINVAR
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.400 Biomarker disease HPO
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.100 Biomarker disease HPO
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		0.100 Biomarker phenotype HPO
CUI: C0239778
Disease: Green urine
Green urine 		0.100 Biomarker phenotype HPO
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.400 Biomarker disease CTD_human When cholestasis was induced in pregnant rats, BVR alpha, SVCT1 and SVCT2 expression in maternal and fetal livers was stimulated, and this was further enhanced by UDCA treatment. 18706437 2008
CUI: C3279964
Disease: Hyperbiliverdinemia
Hyperbiliverdinemia 		0.610 GeneticVariation disease BEFREE Hyperbiliverdinaemia (green jaundice) with green plasma and urine may be caused by a genetic defect in the BVR-A gene in conjunction with decompensated liver cirrhosis. 19580635 2009
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 GeneticVariation disease BEFREE Hyperbiliverdinaemia (green jaundice) with green plasma and urine may be caused by a genetic defect in the BVR-A gene in conjunction with decompensated liver cirrhosis. 19580635 2009
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 GeneticVariation disease BEFREE Four significant associations with CAD were detected after controlling age and the false discovery rate at 15%: the recessive effect of SNP rs887829 (UGT1A1 G-364A) [age-adjusted odds ratio (OR): 0.24; 95% confidence interval (CI): 0.10-0.60; P=0.0014] and dominant effect of rs4149013 (SLCO1B1 A-12099G) (age-adjusted OR: 0.70; 95% CI: 0.55-0.91; P=0.0069) on male CAD, and the additive effects of rs2877262 (BLVRA G+1238/in6C) (age-adjusted OR: 0.73; 95% CI: 0.59-0.89; P=0.0021) and rs2690381 (BLVRA G+2613/in6A) (age-adjusted OR: 0.70; 95% CI: 0.56-0.86; P=0.0008) on female CAD. 19238116 2009
CUI: C3279964
Disease: Hyperbiliverdinemia
Hyperbiliverdinemia 		0.610 GermlineCausalMutation disease ORPHANET This is the first report of a homozygous BLVRA inactivating mutation indicating that the complete absence of BVRα activity is a non-lethal condition, the most evident phenotypic characteristic of which is the appearance of green jaundice accompanying cholestasis episodes. 21278388 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.080 Biomarker disease BEFREE In conclusion, nitrosative stress-induced modifications on hippocampal BVR-A are an early event in the pathogenesis of AD since they appear also in MCI subjects and could contribute to the antioxidant and metabolic derangement characteristic of these neurodegenerative disorders. 21483094 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.080 Biomarker disease BEFREE Consequently, not just the increased levels of biliverdin reductase-A, but also its changed activity and phosphorylation state, should be taken into account when considering potential biomarkers for Alzheimer disease and mild cognitive impairment. 21241799 2011
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		0.040 Biomarker disease BEFREE In conclusion, nitrosative stress-induced modifications on hippocampal BVR-A are an early event in the pathogenesis of AD since they appear also in MCI subjects and could contribute to the antioxidant and metabolic derangement characteristic of these neurodegenerative disorders. 21483094 2011
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		0.040 Biomarker disease BEFREE Consequently, not just the increased levels of biliverdin reductase-A, but also its changed activity and phosphorylation state, should be taken into account when considering potential biomarkers for Alzheimer disease and mild cognitive impairment. 21241799 2011
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 Biomarker disease BEFREE These findings provide the first genetic evidence for the role of BLVRA on the susceptibility to human essential hypertension and blood pressure. 21721974 2011
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 Biomarker group BEFREE In conclusion, nitrosative stress-induced modifications on hippocampal BVR-A are an early event in the pathogenesis of AD since they appear also in MCI subjects and could contribute to the antioxidant and metabolic derangement characteristic of these neurodegenerative disorders. 21483094 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.080 GeneticVariation disease BEFREE We previously reported alterations in BVR activity along with decreased phosphorylation and increased oxidative/nitrosative posttranslational modifications in the brain of subjects with AD and those with mild cognitive impairment (MCI). 22549002 2012
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder 		0.040 GeneticVariation disease BEFREE We previously reported alterations in BVR activity along with decreased phosphorylation and increased oxidative/nitrosative posttranslational modifications in the brain of subjects with AD and those with mild cognitive impairment (MCI). 22549002 2012
CUI: C0036690
Disease: Septicemia
Septicemia 		0.010 GeneticVariation disease BEFREE We tested whether a highly polymorphic (GT)n microsatellite and single-nucleotide polymorphisms in HMOX1 and BLVRA/B genes are associated with outcome of sepsis. 23042203 2012
CUI: C0243026
Disease: Sepsis
Sepsis 		0.010 GeneticVariation disease BEFREE We tested whether a highly polymorphic (GT)n microsatellite and single-nucleotide polymorphisms in HMOX1 and BLVRA/B genes are associated with outcome of sepsis. 23042203 2012
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 AlteredExpression disease BEFREE Compared to the controls, substantially increased BLVRA expression was detected in PBL (p<0.001) of therapeutically naïve HCV patients. mRNA levels of BLVRA in PBL closely correlated with those in liver tissue (r2 = 0.347,p = 0.03). 23536765 2013
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.080 Biomarker disease BEFREE The above data support the hypothesis that the dysregulation of HO-1/BVR-A system contributes to the early increase of oxidative stress in DS and provide potential mechanistic paths involved in the neurodegenerative process and AD development. 25391381 2015
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 Biomarker disease BEFREE The above data support the hypothesis that the dysregulation of HO-1/BVR-A system contributes to the early increase of oxidative stress in DS and provide potential mechanistic paths involved in the neurodegenerative process and AD development. 25391381 2015