RNF2, ring finger protein 2, 6045

N. diseases: 63; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 Biomarker disease BEFREE DING, a genistein target in human breast cancer: a protein without a gene. 12840230 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 Biomarker disease BEFREE DING, a genistein target in human breast cancer: a protein without a gene. 12840230 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Changes in expression associated with tumoral transformation have been found for BMI1 and RNF2, which exhibited increased expression in a large series of tumors, including gastrointestinal tumors, pituitary and parathyroid adenomas, and lymphomas, compared with their expression in normal-cell counterparts. 16528373 2006
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 Biomarker group BEFREE We suggest that RNF2 regulates the cellular abundance of Pgp, and plays a key role in the development of cancer drug resistance through its own down-regulation. 17088979 2006
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 Biomarker group BEFREE We suggest that RNF2 regulates the cellular abundance of Pgp, and plays a key role in the development of cancer drug resistance through its own down-regulation. 17088979 2006
CUI: C0024299
Disease: Lymphoma
Lymphoma 		0.020 AlteredExpression group BEFREE Changes in expression associated with tumoral transformation have been found for BMI1 and RNF2, which exhibited increased expression in a large series of tumors, including gastrointestinal tumors, pituitary and parathyroid adenomas, and lymphomas, compared with their expression in normal-cell counterparts. 16528373 2006
CUI: C0017185
Disease: Gastrointestinal Neoplasms
Gastrointestinal Neoplasms 		0.010 AlteredExpression group BEFREE Changes in expression associated with tumoral transformation have been found for BMI1 and RNF2, which exhibited increased expression in a large series of tumors, including gastrointestinal tumors, pituitary and parathyroid adenomas, and lymphomas, compared with their expression in normal-cell counterparts. 16528373 2006
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 Biomarker disease BEFREE Disease states in which DING proteins have been implicated include rheumatoid arthritis, lithiasis, atherosclerosis, some tumours and tumour-associated cachexia, and bacterial and viral adherence. 19290474 2009
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.200 Biomarker disease RGD Polycomb group proteins are essential for spinal cord development. 20515739 2010
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.020 AlteredExpression disease BEFREE Consistent with these findings, E6-AP knockout mice display an elevated level of Ring1B and ubiquitinated histone H2A in various tissues, including cerebellar Purkinje neurons, which may have implications to the pathogenesis of Angelman syndrome, a neurodevelopmental disorder caused by deficiency of E6-AP in the brain. 20351251 2010
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 AlteredExpression group BEFREE Consistent with these findings, E6-AP knockout mice display an elevated level of Ring1B and ubiquitinated histone H2A in various tissues, including cerebellar Purkinje neurons, which may have implications to the pathogenesis of Angelman syndrome, a neurodevelopmental disorder caused by deficiency of E6-AP in the brain. 20351251 2010
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.030 GeneticVariation group BEFREE These data provide evidence that the X-DING-CD4 gene contributes to early cellular protection from HIV infection in some individuals and this protection depends solely on the unique genetic regulation of the host. 22042911 2012
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.030 AlteredExpression group BEFREE In conclusion, results from this study show that the organism reacts to HIV-infection by an overexpression of DING proteins. 22427948 2012
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.030 Biomarker group BEFREE The X-DING-CD4-mediated inhibition of the IL-8 promoter also resulted in a reduction of the soluble IL-8 protein in endothelial cells and human macrophages infected with a subset of enteric bacteria frequently causing diarrhea in progressive HIV disease. 22031506 2012
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.020 AlteredExpression disease BEFREE Cellular resistance to HIV-1 infection in target cells coincides with a rapid induction of X-DING-CD4 mRNA: indication of the unique host innate response to virus regulated through function of the X-DING-CD4 gene. 22042911 2012
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.010 Biomarker phenotype BEFREE The X-DING-CD4-mediated inhibition of the IL-8 promoter also resulted in a reduction of the soluble IL-8 protein in endothelial cells and human macrophages infected with a subset of enteric bacteria frequently causing diarrhea in progressive HIV disease. 22031506 2012
CUI: C0206664
Disease: Teratocarcinoma
Teratocarcinoma 		0.010 Biomarker disease BEFREE Here we present evidence for an interaction between the transcription factor REST, PRC1, and PRC2 and show that RNF2 and REST co-regulate a number of neuronal genes in human teratocarcinoma cells (NT2-D1). 22396653 2012
CUI: C0206739
Disease: Epithelioid and spindle cell nevus
Epithelioid and spindle cell nevus 		0.010 GeneticVariation disease BEFREE Herein are illustrated some pitfalls in the diagnosis of melanoma, as well as variants of Spitz's nevus that correlate with specific genomic aberrations such as gains of chromosome 11p and loss of the BAP-1 gene on chromosome 3p. 22648325 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE Together, these results indicate that RNF2 is an E3 ligase for p53 degradation in selective cells, implicating RNF2 as a therapeutic target to restore tumor suppression through p53 in certain tumor cells. 23319651 2013
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.010 Biomarker disease BEFREE Furthermore, our data demonstrate that Bcl6a functions cooperatively with Bcor, Rnf2 and Hdac1 in a common gene regulatory network that acts to repress p53 and prevent colobomata. 23669349 2013
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.010 GeneticVariation disease BEFREE Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features. 23895799 2013
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.010 GeneticVariation disease BEFREE Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features. 23895799 2013
CUI: C3887638
Disease: Failure to thrive in infant
Failure to thrive in infant 		0.010 GeneticVariation disease BEFREE Ring 2 chromosome associated with failure to thrive, microcephaly and dysmorphic facial features. 23895799 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Here, we performed immunohistochemistry on tissue microarrays (TMAs) containing 80 pairs of human pancreatic cancer specimens to assess the expression levels of Ring1B, H2AK119Ub1, EZH2, and H3K27Me3 in tumors. 25431952 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.060 Biomarker group BEFREE These results provide a possible mechanism explaining the oncogenic function of RNF2, and because RNF2 is important for cancer cell survival and proliferation, it might be an ideal target for cancer therapy or prevention. 23318437 2014