Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4022924
Disease: Abnormal eye physiology
Abnormal eye physiology 		0.100 Biomarker phenotype HPO
CUI: C1860488
Disease: Abnormal internal carotid artery morphology
Abnormal internal carotid artery morphology 		0.100 Biomarker disease HPO
CUI: C4022811
Disease: Abnormality of nervous system physiology
Abnormality of nervous system physiology 		0.100 Biomarker phenotype HPO
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		0.100 Biomarker phenotype HPO
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.020 Biomarker disease BEFREE Autosomal recessive hypercholesterolemia (ARH) is a rare genetic defect that causes marked elevation of plasma low-density lipoprotein cholesterol (LDL-C) and premature atherosclerosis. 17686643 2007
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.020 Biomarker disease BEFREE The ARH protein is involved in cell cycle progression, possibly by affecting nuclear membrane formation through interaction with lamin B1 or other mitotic proteins, and its absence affects cell proliferation and induces premature senescence, which may play a role in the development of atherosclerosis in ARH. 21778424 2011
CUI: C3665365
Disease: Arteriosclerotic cardiovascular disease, NOS
Arteriosclerotic cardiovascular disease, NOS 		0.010 Biomarker disease BEFREE Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). 29348020 2018
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.100 Biomarker phenotype HPO
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.150 GeneticVariation disease BEFREE Autosomal recessive hypercholesterolemia (ARH; OMIM #603813) is a very rare monogenic disorder affecting less than 1 in 1000,000 people and is characterized by very high levels of low-density lipoprotein cholesterol (LDL-C), leading to aggressive and premature atherosclerotic cardiovascular disease if left untreated. 31734096 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.150 Biomarker disease BEFREE Autosomal recessive hypercholesterolemia (ARH) is a rare genetic defect that causes marked elevation of plasma low-density lipoprotein cholesterol (LDL-C) and premature atherosclerosis. 17686643 2007
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.150 Biomarker disease BEFREE Autosomal recessive hypercholesterolemia (ARH) is a rare lipid disorder characterized by premature atherosclerotic cardiovascular disease (ASCVD). 29348020 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.150 Biomarker disease HPO
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.150 GeneticVariation disease BEFREE Additional mutation in LDLRAP1 may account for severer phenotype in terms of xanthoma and atherosclerotic cardiovascular disease in FH patients. 21872251 2011
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.150 Biomarker disease BEFREE The ARH protein is involved in cell cycle progression, possibly by affecting nuclear membrane formation through interaction with lamin B1 or other mitotic proteins, and its absence affects cell proliferation and induces premature senescence, which may play a role in the development of atherosclerosis in ARH. 21778424 2011
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		0.100 Biomarker phenotype HPO
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: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 Biomarker disease BEFREE The sensitivity and specificity of CK-19 mRNA detection by nested RT-PCR were investigated using MCF-7 and ARH-77 cells and blood from healthy women and patients with hematologic malignancies, metastatic colorectal cancer, and early and metastatic breast cancer. 12177100 2002
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: 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: C4024924
Disease: Cerebral artery atherosclerosis
Cerebral artery atherosclerosis 		0.100 Biomarker disease HPO
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE Peripheral blood was obtained from 265 patients with operable CRC before the initiation of adjuvant systemic therapy from 96 normal donors and RNA prepared from the Lovo and ARH-77 CRC and leukemic cell lines, respectively, was used as positive and negative controls. 21071514 2011
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm 		0.100 Biomarker disease HPO
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.100 Biomarker group HPO
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		0.010 Biomarker group BEFREE Autosomal recessive hypercholesterolemia (ARH) is a rare Mendelian dyslipidemia characterized by markedly elevated plasma LDL levels, xanthomatosis, and premature coronary artery disease. 12642779 2003