ADPRH, ADP-ribosylarginine hydrolase, 141

N. diseases: 10; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		0.030 Biomarker disease BEFREE Our results also indicate that ARH1 carrier status is present in ∼1:2500 of Sicilian inhabitants, confirming that ARH is extremely rare outside Sardinia. 29153781 2019
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		0.030 GeneticVariation disease BEFREE ARH is rare except in Sardinia where three alleles (ARH1, ARH2 and ARH3) explain most of cases. 19477448 2009
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		0.030 AlteredExpression disease BEFREE Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. 12464675 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Similarly, by cleaving mono-ADP-ribosylated arginine on target proteins, ARH1 appears to inhibit tumor formation, suggesting that ARH1 is a tumor-suppressor gene. 30267646 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation group BEFREE In the present study, we found that in wild-type and ARH1-deficient mice deletion of the CD38 gene reduced tumor formation. 29228209 2018
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.010 GeneticVariation disease BEFREE The objectives of the study were to improve the molecular diagnosis of familial hypercholesterolemia (FH) and to estimate the frequency of the ARH1 allele in 2 free-living Sicilian populations. 29153781 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE In the present review, research on ARH1-regulated tumorigenesis and cell death pathways that are enhanced by ARH3 deficiency are discussed. 30267646 2019
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.010 GeneticVariation disease BEFREE The objectives of the study were to improve the molecular diagnosis of familial hypercholesterolemia (FH) and to estimate the frequency of the ARH1 allele in 2 free-living Sicilian populations. 29153781 2019
CUI: C0008354
Disease: Cholera
Cholera 		0.010 Biomarker disease BEFREE In the current report, we examined the sensitivity to cholera toxin of male and female ARH1-KO and WT mice. 30500844 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 Biomarker group BEFREE ARH1-deficient mice developed cardiomyopathy with myocardial fibrosis, decreased myocardial function under dobutamine stress, and increased susceptibility to ischemia/reperfusion injury. 30429362 2018
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.010 AlteredExpression disease BEFREE To explore the correlation between EZH2 and ARHI expression in EOC as well as the possible mechanism of EZH2-ARH1 interaction. 25077680 2015
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.010 AlteredExpression disease BEFREE To explore the correlation between EZH2 and ARHI expression in EOC as well as the possible mechanism of EZH2-ARH1 interaction. 25077680 2015
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.010 GeneticVariation disease BEFREE Furthermore, four Italians from the mainland with autosomal recessive hypercholesterolaemia were homozygous for ARH1. 11897284 2002