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 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 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 GENOMICS_ENGLAND Genetic and epigenetic study of ALS-discordant identical twins with double mutations in SOD1 and ARHGEF28. 27154192 2016
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: 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 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
High density lipoprotein measurement
0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
0.100 GeneticVariation phenotype GWASDB A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. 23509962 2013
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 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: 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: 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: 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: 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: 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: 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: 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: 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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 Biomarker phenotype BEFREE Receptor‑interacting protein 2 (RIP2) has recently been reported to be involved in tumor infiltration and cancer metastasis. 29693188 2018
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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 Biomarker phenotype BEFREE These results highlight RIP2 as a pro-metastasis kinase in patients with advanced breast cancer. 24642040 2014