Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		0.330 GeneticVariation disease BEFREE Although a number of candidate genes have been suspected, so far only mutations in PLXND1 and REV3L are confirmed to cause MBS. 31033088 2019
CUI: C0221060
Disease: Mobius Syndrome
Mobius Syndrome 		0.330 GeneticVariation disease BEFREE The finding that PLXND1 and REV3L mutations are responsible for a proportion of MBS patients suggests that de novo mutations in other genes might account for other MBS patients. 26068067 2015
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.100 GeneticVariation disease GWASCAT Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis. 30552173 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.100 GeneticVariation disease CLINVAR The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 27165003 2016
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.100 GeneticVariation disease GWASCAT A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. 20953190 2010
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.100 GeneticVariation disease GWASCAT Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. 25574825 2015
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.100 GeneticVariation disease GWASDB A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. 20953190 2010
CUI: C0033860
Disease: Psoriasis
Psoriasis 		0.100 GeneticVariation disease GWASCAT Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility. 25903422 2015
CUI: C0037369
Disease: Smoking
Smoking 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences. 30643258 2019
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.100 GeneticVariation phenotype GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.100 GeneticVariation phenotype GWASDB Human metabolic individuality in biomedical and pharmaceutical research. 21886157 2011
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 2012
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.100 GeneticVariation disease GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 GeneticVariation group BEFREE Since the human Rev3 gene is localized to chromosome 6q21, a region previously shown to contain genes involved in tumor suppression and cellular senescence, we examined its expression in various normal and malignant tissues. 11115544 2001
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.030 GeneticVariation disease BEFREE To investigate association between REV3L polymorphisms and lung cancer risk in a Chinese population, we first genotyped 15 common polymorphisms of the REV3L gene and found that three single nucleotide polymorphisms (rs465646, rs459809 and rs1002481) were significantly associated with lung cancer risk. 22349819 2013
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 GeneticVariation disease BEFREE To investigate association between REV3L polymorphisms and lung cancer risk in a Chinese population, we first genotyped 15 common polymorphisms of the REV3L gene and found that three single nucleotide polymorphisms (rs465646, rs459809 and rs1002481) were significantly associated with lung cancer risk. 22349819 2013
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.030 GeneticVariation disease BEFREE To investigate association between REV3L polymorphisms and lung cancer risk in a Chinese population, we first genotyped 15 common polymorphisms of the REV3L gene and found that three single nucleotide polymorphisms (rs465646, rs459809 and rs1002481) were significantly associated with lung cancer risk. 22349819 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 GeneticVariation disease BEFREE Two SNPs in REV3L and one SNP in MAD2L2 associated with BC risk: rs462779 (multiplicative model: OR 0.79, 95% CI 0.68-0.92), rs3204953 (dominant model: OR 1.28, 95% CI 1.05-1.56) and rs2233004 (recessive model: OR 0.49, 95% CI 0.28-0.86). 21455670 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 GeneticVariation disease BEFREE Two SNPs in REV3L and one SNP in MAD2L2 associated with BC risk: rs462779 (multiplicative model: OR 0.79, 95% CI 0.68-0.92), rs3204953 (dominant model: OR 1.28, 95% CI 1.05-1.56) and rs2233004 (recessive model: OR 0.49, 95% CI 0.28-0.86). 21455670 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.010 GeneticVariation disease BEFREE Non-HLA single nucleotide polymorphisms (SNPs) in the intergenic regions LOC389203;RBPJ, LOC100131131;IL1R1, KIAA1919;REV3L, LOC643749;TRAF3IP2, and SNPs in the intron and untranslated regions (UTR) of IRF1 and the intronic region of ICOS and KIAA1542 showed association with RA (p < 5 × 10(-5)). 25014791 2014
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation disease BEFREE Among single genetic variants consistently associated with diabetes-related metabolites, two (rs174550 (FADS1), rs3204953 (REV3L)) were significantly associated with type 2 diabetes in large-scale meta-analysis for type 2 diabetes. 28729637 2017
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.010 GeneticVariation disease BEFREE We detected an enrichment for variants in FA DNA damage repair pathway genes in our familial CRC cohort as 6 families carried heterozygous, rare, potentially pathogenic variants located in BRCA2/FANCD1, BRIP1/FANCJ, FANCC, FANCE and REV3L/POLZ. 27165003 2016
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 GeneticVariation disease BEFREE As osteosarcoma patients are commonly treated with cisplatin-based chemotherapy, our aim was to investigate if REV1 and REV3L polymorphisms influence survival of osteosarcoma patients treated with cisplatin-based chemotherapy. 25748439 2015
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 GeneticVariation disease BEFREE As osteosarcoma patients are commonly treated with cisplatin-based chemotherapy, our aim was to investigate if REV1 and REV3L polymorphisms influence survival of osteosarcoma patients treated with cisplatin-based chemotherapy. 25748439 2015