Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.370 GeneticVariation disease BEFREE In this study, we sequenced the entire coding sequence of ARHGEF28 in a Chinese cohort of 399 sporadic ALS and 327 elderly controls. 31060816 2020
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.370 Biomarker disease BEFREE Rho guanine nucleotide exchange factor (RGNEF) is a novel NFL mRNA destabilizing factor that forms neuronal cytoplasmic inclusions in spinal motor neurons in both sporadic (SALS) and familial (FALS) ALS patients. 23286752 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.370 Biomarker disease BEFREE Consistent with a key role in the pathogenesis of amyotrophic lateral sclerosis (ALS), RGNEF forms pathological neuronal cytoplasmic inclusions in degenerating spinal motor neurons. 28495450 2017
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.370 Biomarker disease BEFREE Out of these RNA-binding proteins, TDP-43, FUS/TLS and RGNEF have been shown to co-aggregate with one another within motor neurons of sporadic ALS (sALS) patients, suggesting that there may be a common regulatory network disrupted. 28969660 2017
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.370 Biomarker disease BEFREE Furthermore, we observed RGNEF cytoplasmic inclusions in ALS spinal motor neurons that colocalized with ubiquitin, p62/sequestosome-1, and TAR (trans-active regulatory) DNA-binding protein 43 (TDP-43). 22835604 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.370 Biomarker disease BEFREE Rho Guanine Nucleotide Exchange Factor (RGNEF) is a 190 kDa protein implicated in both amyotrophic lateral sclerosis (ALS) and cancer. 30482479 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.370 GeneticVariation disease BEFREE ARHGEF28 gene exon 6/intron 6 junction mutations in Chinese amyotrophic lateral sclerosis cohort. 24712971 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 Biomarker group BEFREE Receptor‑interacting protein 2 (RIP2) has recently been reported to be involved in tumor infiltration and cancer metastasis. 29693188 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 Biomarker group BEFREE A total of six breast cancer expression databases, including The Cancer Genome Atlas, were assessed for RIP2 expression among various clinical subtypes and its role as a prognostic biomarker. mRNA fluorescence in situ hybridization (FISH) for RIP2 was performed on 17 stage III breast cancers to determine if there was a correlation between RIP2 expression and lymph node involvement. 24642040 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.030 Biomarker group BEFREE Rho Guanine Nucleotide Exchange Factor (RGNEF) is a 190 kDa protein implicated in both amyotrophic lateral sclerosis (ALS) and cancer. 30482479 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE A xenograft mouse model was used to assess tumor growth and chemosensitivity to docetaxel in vivo in MDA-MB-231 cells with and without RIP2 small hairpin RNA knockdown. 24642040 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 AlteredExpression group BEFREE Guanine nucleotide exchange factor T (GEFT), a member of the Rho guanine nucleotide exchange factor family, is expressed in a variety of tumors. 31620201 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE Receptor‑interacting protein 2 (RIP2) has recently been reported to be involved in tumor infiltration and cancer metastasis. 29693188 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 Biomarker group BEFREE Receptor‑interacting protein 2 (RIP2) has recently been reported to be involved in tumor infiltration and cancer metastasis. 29693188 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 Biomarker group BEFREE Rho Guanine Nucleotide Exchange Factor (RGNEF) is a 190 kDa protein implicated in both amyotrophic lateral sclerosis (ALS) and cancer. 30482479 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.030 Biomarker group BEFREE A total of six breast cancer expression databases, including The Cancer Genome Atlas, were assessed for RIP2 expression among various clinical subtypes and its role as a prognostic biomarker. mRNA fluorescence in situ hybridization (FISH) for RIP2 was performed on 17 stage III breast cancers to determine if there was a correlation between RIP2 expression and lymph node involvement. 24642040 2014
CUI: C0004096
Disease: Asthma
Asthma
0.020 GeneticVariation disease BEFREE In the case-only study, an association between an RIP2 promoter polymorphism and childhood severe asthma (P=0.0032; odds ratio (OR) 3.37, 95% confidence interval (CI) 1.45-7.87) was observed. 17075290 2006
CUI: C0004096
Disease: Asthma
Asthma
0.020 AlteredExpression disease BEFREE The situation is complicated further by the fact that WT NOD2 and WT RIP2 activity has been implicated in diseases such as asthma, inflammatory arthritis and MS. 23794710 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.020 Biomarker group BEFREE Signaling via the RIP2 adaptor protein in central nervous system-infiltrating dendritic cells promotes inflammation and autoimmunity. 21236705 2011
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.020 Biomarker group BEFREE RIP2 kinase was recently identified as a therapeutic target for a variety of autoimmune diseases. 30344914 2018
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections
0.020 Biomarker group BEFREE Furthermore, the expression of zebrafish histone H2A was decreased by RIP2 deficiency with and/or without bacterial infection. 31336107 2019
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections
0.020 Biomarker group BEFREE Collectively, these findings demonstrate that NOD1 detects PG within early endosomes, thereby promoting RIP2-dependent autophagy and inflammatory signaling in response to bacterial infection. 24746552 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.020 Biomarker disease BEFREE NOD1, RIP2 and Caspase12 are potentially novel biomarkers for oral squamous cell carcinoma development and progression. 24817964 2014
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.020 AlteredExpression disease BEFREE Here, we find that in vivo, the α-catenin homologue-α-catulin, a protein originally reported to interact with Lbc Rho guanine nucleotide exchange factor, is highly expressed at the tumor invasion front and in the metastatic streams of cells in both malignant hHNSCCs and a mouse model of oral SCC. 22648798 2012
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.020 Biomarker disease BEFREE The present study is aimed at describing the downstream events triggered specifically by NOD2 induction in order to demonstrate that the protein, other than overexpressed, is also physiologically associated with RIP2 and Erbin in the bioptic intestinal inflamed specimens of children affected by CD. 19266573 2009