Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		0.010 Biomarker disease BEFREE Furthermore, we expressed hIDOL in a 'humanized' mouse model of heterozygous familial hypercholesterolaemia (LDLR(+/-)/Apobec1(-/-)/hApoB-Tg, LAhB). 26786161 2016
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.030 Biomarker disease BEFREE Here, we placed hypercholesterolemic Ldlr-/-Apobec1-/- mice on a high-fat diet and treated them with either 25 mg/kg/day of clopidogrel (CLO) or 180 mg/kg/day of TIC for 16 weeks and evaluated the extent of atherosclerosis. 31242230 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.030 Biomarker disease BEFREE Here, we placed hypercholesterolemic Ldlr-/-Apobec1-/- mice on a high-fat diet and treated them with either 25 mg/kg/day of clopidogrel (CLO) or 180 mg/kg/day of TIC for 16 weeks and evaluated the extent of atherosclerosis. 31242230 2019
CUI: C1302392
Disease: Adenoma of small intestine
Adenoma of small intestine 		0.010 Biomarker disease BEFREE Here, we show that small intestinal adenoma formation is dramatically reduced in compound Apc(min/+) apobec-1(-/-) mice when compared with the parental Apc(min/+) strain. 17875695 2007
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor 		0.010 Biomarker disease BEFREE Here, we show that partial loss of either APOBEC1 complementation factor (A1CF), the RNA-binding cofactor of APOBEC1 in RNA editing, or Argonaute 2 (AGO2), a key factor in the biogenesis of certain noncoding RNAs, modulates risk for TGCTs and testicular abnormalities in both parent-of-origin and conventional genetic manners. 27582469 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 GeneticVariation group BEFREE However, among all the enzymes studied, mouse A1 appears to be singular, being able to introduce somatic mutations into nuclear DNA with a clear 5'TpC editing context, and to deaminate 5-methylcytidine substituted DNA which are characteristic features of the cancer related mammalian A3A and A3B enzymes. 31726973 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 GeneticVariation group BEFREE However, among all the enzymes studied, mouse A1 appears to be singular, being able to introduce somatic mutations into nuclear DNA with a clear 5'TpC editing context, and to deaminate 5-methylcytidine substituted DNA which are characteristic features of the cancer related mammalian A3A and A3B enzymes. 31726973 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.020 AlteredExpression disease BEFREE However, high-level expression of APOBEC-1 in transgenic mouse and rabbit livers causes liver dysplasia and hepatocellular carcinoma. 9633945 1998
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.210 Biomarker disease RGD In colon cancer, apobec-1 protein levels decreased by 90% in the cancer tissue as compared to normal tissue, suggesting an inhibitory effect of the 5'UTR on apobec-1 translation. 12020819 2002
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 AlteredExpression group BEFREE In addition, there was reduced expression in adenomas from compound Apc(min/+) apobec-1(-/-) mice of other mRNAs (including epidermal growth factor receptor, peroxisome proliferator-activated receptor delta, prostaglandin receptor EP4, and c-myc), each containing the apobec-1 consensus binding site within their 3'-UTR. 17875695 2007
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.010 AlteredExpression disease BEFREE In contrast, in apoE-/- mice, inactivation of apobec-1 caused a massive increase (from <0.5 to 55.5+/-16.4 mg/dL) in plasma apoB-100 concentration but an approximately 55% reduction in hypercholesterolemia due to partial amelioration of the marked VLDL+IDL elevation. 9598833 1998
CUI: C0028754
Disease: Obesity
Obesity 		0.200 Biomarker disease RGD In contrast, the hepatic mRNA encoding APOBEC-1, the catalytic subunit of the RNA editing activity, demonstrated an increased abundance of 1.8-fold in obese Zucker rats versus lean controls. 8781289 1996
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.010 Biomarker disease BEFREE In the investigated German samples, no evidence of association of APOBEC1 and PPARG with gallstone susceptibility was detected. 17696929 2007
CUI: C1333419
Disease: Liver and Intrahepatic Bile Duct Epithelial Neoplasm
Liver and Intrahepatic Bile Duct Epithelial Neoplasm 		0.200 Biomarker disease RGD Low expression of the apolipoprotein B mRNA-editing transgene in mice reduces LDL levels but does not cause liver dysplasia or tumors. 9633945 1998
CUI: C1333976
Disease: Liver and Intrahepatic Bile Duct Neoplasm
Liver and Intrahepatic Bile Duct Neoplasm 		0.200 Biomarker disease RGD Low expression of the apolipoprotein B mRNA-editing transgene in mice reduces LDL levels but does not cause liver dysplasia or tumors. 9633945 1998
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Members of the APOBEC (apolipoprotein B mRNA-editing enzyme catalytic polypeptide 1-like) family of cytidine deaminases inhibit host cell genome invasion by exogenous retroviruses and endogenous retrotransposons. 17166910 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE Moreover, we find the presence of an AID/APOBEC mutational signature in esophageal adenocarcinomas, a type of tumor where APOBEC1 is expressed, that mimics the one preferred by APOBEC1 in vitro. 25085003 2014
CUI: C0023418
Disease: leukemia
leukemia 		0.010 Biomarker disease BEFREE Murine APOBEC1 was able to hyperdeaminate cytidine residues in murine leukemia virus genomic RNA as well. 18983852 2009
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.010 Biomarker disease BEFREE Murine APOBEC1 was able to hyperdeaminate cytidine residues in murine leukemia virus genomic RNA as well. 18983852 2009
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.020 Biomarker disease BEFREE Overexpression of APOBEC-1 in transgenic animals caused liver dysplasia and APOBEC-1 has been identified in neurofibromatosis type 1 tumours, suggesting that RNA editing may be another mechanism for tumourigenesis. 11072063 2000
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE Overexpression of APOBEC-1 in transgenic animals caused liver dysplasia and APOBEC-1 has been identified in neurofibromatosis type 1 tumours, suggesting that RNA editing may be another mechanism for tumourigenesis. 11072063 2000
CUI: C0149958
Disease: Complex partial seizures
Complex partial seizures 		0.010 GeneticVariation disease BEFREE Patients with expression of the Apobec-1 80I variant mostly suffered from simple or complex partial seizures, whereas patients with 80M expression exhibited secondarily generalized seizure activity. 29375302 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.030 Biomarker disease BEFREE RE4 APOBEC-1 transgenic mice should prove valuable for studying the roles of apoB-containing lipoproteins in lipid metabolism and atherosclerosis. 9633945 1998
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.030 Biomarker disease BEFREE RE4 APOBEC-1 transgenic mice should prove valuable for studying the roles of apoB-containing lipoproteins in lipid metabolism and atherosclerosis. 9633945 1998
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 Biomarker group BEFREE Such APOBEC1-induced mutator phenotypes could play a role in the onset of esophageal adenocarcinomas. 25085003 2014