Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 GeneticVariation group CLINVAR
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.100 CausalMutation group CLINVAR
CUI: C2678473
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (disorder)
CILIARY DYSKINESIA, PRIMARY, 7 (disorder) 		0.100 CausalMutation disease CLINVAR
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		0.010 Biomarker disease BEFREE We also show that BL cell lines freshly converted with the non-immortalizing HR-I strain of EBV do not accumulate higher levels of c-fgr mRNA, suggesting that EBNA-2 and/or LMP, the genes which are deleted in the HR-I strain, may be involved in the pathway which leads to changes in c-fgr gene expression. 2154410 1990
CUI: C0278764
Disease: Adult Burkitt Lymphoma
Adult Burkitt Lymphoma 		0.010 Biomarker disease BEFREE We also show that BL cell lines freshly converted with the non-immortalizing HR-I strain of EBV do not accumulate higher levels of c-fgr mRNA, suggesting that EBNA-2 and/or LMP, the genes which are deleted in the HR-I strain, may be involved in the pathway which leads to changes in c-fgr gene expression. 2154410 1990
CUI: C0278879
Disease: Childhood Burkitt Lymphoma
Childhood Burkitt Lymphoma 		0.010 Biomarker disease BEFREE We also show that BL cell lines freshly converted with the non-immortalizing HR-I strain of EBV do not accumulate higher levels of c-fgr mRNA, suggesting that EBNA-2 and/or LMP, the genes which are deleted in the HR-I strain, may be involved in the pathway which leads to changes in c-fgr gene expression. 2154410 1990
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.020 AlteredExpression disease BEFREE Significantly, JPO2 expression induces colony formation in UW228, a medulloblastoma cell line, whereas RNAi-mediated JPO2 knockdown impairs colony formation in UW228, and in Myc-transformed UW228 cells. 15994933 2005
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.020 AlteredExpression disease BEFREE Significantly, JPO2 expression induces colony formation in UW228, a medulloblastoma cell line, whereas RNAi-mediated JPO2 knockdown impairs colony formation in UW228, and in Myc-transformed UW228 cells. 15994933 2005
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.020 AlteredExpression disease BEFREE Significantly, JPO2 expression induces colony formation in UW228, a medulloblastoma cell line, whereas RNAi-mediated JPO2 knockdown impairs colony formation in UW228, and in Myc-transformed UW228 cells. 15994933 2005
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 AlteredExpression phenotype BEFREE Immunohistochemical studies indicate tumor-specific JPO2 expression in human medulloblastoma, and an association of JPO2 expression with metastatic tumors. 15994933 2005
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.020 Biomarker disease BEFREE Reporter gene and/or gel shift assays confirmed direct repression of Tsp-1 transcription by Myc and also identified JPO2, a Myc interactor associated with metastatic medulloblastoma, as a cofactor in Myc-mediated Tsp-1 repression. 20876797 2010
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.020 Biomarker disease BEFREE Reporter gene and/or gel shift assays confirmed direct repression of Tsp-1 transcription by Myc and also identified JPO2, a Myc interactor associated with metastatic medulloblastoma, as a cofactor in Myc-mediated Tsp-1 repression. 20876797 2010
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		0.020 Biomarker disease BEFREE Reporter gene and/or gel shift assays confirmed direct repression of Tsp-1 transcription by Myc and also identified JPO2, a Myc interactor associated with metastatic medulloblastoma, as a cofactor in Myc-mediated Tsp-1 repression. 20876797 2010
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.110 GeneticVariation disease GWASDB Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. 22120009 2011
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.110 GeneticVariation disease GWASDB Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. 23955597 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE In an in vivo model, subcutaneous transplantation of the tumor in nude mice showed that overexpression of CDCA7L can accelerate the tumor growth rate. 24141559 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 Biomarker disease BEFREE Collectively, these findings show that CDCA7L plays a role in promoting the development of HCC and may constitute a potential therapeutic target in HCC. 24141559 2013
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.110 AlteredExpression disease BEFREE These findings implicate IRF4-mediated CDCA7L expression in MM biology and indicate how germline variation might confer susceptibility to MM. 27882933 2016
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 GeneticVariation disease BEFREE Overall, this is the first study, which presented an advanced platform for the gene therapy that reverses adverse cardiac remodeling after MI with a HR1 gene delivered by a bioreducible dendrimer polymer in the cardiac ECM. 27174688 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0266667
Disease: Cyclocephaly
Cyclocephaly 		0.010 Biomarker disease BEFREE Since RAM1 has previously been shown to be directly activated by the common symbiosis signalling pathway through CYCLOPS, we conclude that it acts as an early transcriptional switch that induces many AM-related genes, among them genes that are essential for the development of arbuscules, such as STR, STR2, RAM2, and PT4, besides hundreds of additional RAM1-dependent genes the role of which in symbiosis remains to be explored. 28789611 2017
CUI: C0871388
Disease: social stress
social stress 		0.010 Biomarker disease BEFREE Over the last few decades, several regulatory pathways of MAO-A consisting of Kruppel like factor 11 (KLF11), Sirtuin1, Ring finger protein in neural stem cells (RINES), and Cell division cycle associated 7-like protein (R1) have been identified, and the influence of social stress on these regulatory factors evaluated. 29163009 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 AlteredExpression disease BEFREE The current study reports elevated expression of R1 (CDCA7L/RAM2/JPO2), a c-Myc-interacting protein and transcription factor, in human prostate cancer tissue specimens. 30042175 2018
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 AlteredExpression disease BEFREE The current study reports elevated expression of R1 (CDCA7L/RAM2/JPO2), a c-Myc-interacting protein and transcription factor, in human prostate cancer tissue specimens. 30042175 2018
CUI: C0376705
Disease: Viral Load result
Viral Load result 		0.100 GeneticVariation phenotype GWASCAT Association Between Single-Nucleotide Polymorphisms in HLA Alleles and Human Immunodeficiency Virus Type 1 Viral Load in Demographically Diverse, Antiretroviral Therapy-Naive Participants From the Strategic Timing of AntiRetroviral Treatment Trial. 31219150 2019