Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1333064
Disease: Classical Hodgkin's Lymphoma
Classical Hodgkin's Lymphoma 		0.010 Biomarker disease BEFREE Rap1-interacting factor 1 (Rif1) and O<sup>6</sup>-alkylguanine DNA alkyltransferase (MGMT) are DNA-repair enzymes, which may potentially be involved in resistance to treatment of classical Hodgkin lymphoma (HL). 28786706 2018
CUI: C2347747
Disease: Adult Classical Hodgkin Lymphoma
Adult Classical Hodgkin Lymphoma 		0.010 Biomarker disease BEFREE Rap1-interacting factor 1 (Rif1) and O<sup>6</sup>-alkylguanine DNA alkyltransferase (MGMT) are DNA-repair enzymes, which may potentially be involved in resistance to treatment of classical Hodgkin lymphoma (HL). 28786706 2018
CUI: C1266129
Disease: Atypical Lipoma
Atypical Lipoma 		0.010 Biomarker disease BEFREE RAP1 or XRCC1 downregulation cooperated with ATRX loss in driving the ALT phenotype. 29545335 2018
CUI: C0456909
Disease: Blindness
Blindness 		0.010 Biomarker phenotype BEFREE Rap1 activation inhibits CNV through regulating barrier integrity and ROS generation of RPE in vivo, and selectively activating Rap1 may be a way to reduce vision loss from CNV. 29601231 2018
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		0.010 Biomarker phenotype BEFREE Rap1 activation inhibits CNV through regulating barrier integrity and ROS generation of RPE in vivo, and selectively activating Rap1 may be a way to reduce vision loss from CNV. 29601231 2018
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 Biomarker disease BEFREE RAP1-deficient mice develop obesity and hepatic steatosis, these phenotypes being more severe in females than in males. 30307978 2018
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.010 Biomarker disease BEFREE RAP1-deficient mice develop obesity and hepatic steatosis, these phenotypes being more severe in females than in males. 30307978 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 Biomarker phenotype BEFREE Rap1 activator (8-pCPT-2'-O-Me-cAMP) and inhibitor (ESI-09 and farnesylthiosalicylic acid-amide) treatments could partially rescue invasion and migration of tumor cells. 31401046 2020
CUI: C4743661
Disease: Leukocyte Adhesion Deficiency Type 3
Leukocyte Adhesion Deficiency Type 3 		0.010 AlteredExpression disease BEFREE A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets. 17576779 2007
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 Biomarker disease BEFREE Altered mRNA expression of telomere binding proteins (TPP1, POT1, RAP1, TRF1 and TRF2) in ulcerative colitis and Crohn's disease. 20061197 2010
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 Biomarker disease BEFREE Altered mRNA expression of telomere binding proteins (TPP1, POT1, RAP1, TRF1 and TRF2) in ulcerative colitis and Crohn's disease. 20061197 2010
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.010 GeneticVariation disease BEFREE Although cAMP elevation did not alter the sensitivity of metastatic melanoma cells to BRAF(V600E) and MEK inhibitors, the EPAC-RAP1 axis appears to contribute to resistance to MAPK pathway inhibition. 28851815 2017
CUI: C0028754
Disease: Obesity
Obesity 		0.040 Biomarker disease BEFREE As hepatic steatosis and obesity have been related to increased liver cancer in mice and humans, we set out to address whether RAP1 deficiency resulted in increased liver cancer upon chemical liver carcinogenesis. 30307978 2018
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis 		0.010 Biomarker disease BEFREE As hepatic steatosis and obesity have been related to increased liver cancer in mice and humans, we set out to address whether RAP1 deficiency resulted in increased liver cancer upon chemical liver carcinogenesis. 30307978 2018
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		0.010 AlteredExpression disease BEFREE B- and T-ALL overexpress Ku70 and Pinx1, T-ALL PTOP and RAP1, and B-ALL TRF2, the expression of which is significantly higher in cases with abnormal karyotype. hTERT transcription and TL correlate with response to intensive chemotherapy, and hTERT and RAD50 are independent prognostic factors for survival. 21056083 2011
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.030 AlteredExpression disease BEFREE Because both rap1A and rap1B isoforms of rap1 are expressed in SCC, the rap1GAP inactivation of both rap1 isoforms was verified using cells transfected with EGFP-rap1A or EGFP-rap1B or co-transfected with FLAG-tagged rap1GAP. 16436672 2006
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.030 Biomarker disease BEFREE Bioinformatic analysis demonstrated that Proteoglycans, Fatty acid biosynthesis, ErbB, Hippo, TGF-beta, Wnt, Rap1, AMPK and Ras pathways were the most prominent pathways enriched in NSCLC EV miRNA signatures. 31293647 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Cell contact induction of VEGF transcription via FAK and Rap1 provides a novel Ras-independent, but transformation-dependent, mechanism for stimulus-specific regulation of tumor VEGF expression via MAPK. 10880549 2000
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.010 Biomarker disease BEFREE Cheung and colleagues demonstrate that amplified CRKL can function as a driver oncogene in lung adenocarcinoma, activating both RAS and RAP1 to induce mitogen-activated protein kinase signaling. 22211192 2011
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 Biomarker group BEFREE Correction: Hypoxia/reoxygenation-experienced cancer cell migration and metastasis are regulated by Rap1- and Rac1-GTPase activation <i>via</i> the expression of thymosin beta-4. 30680073 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.080 Biomarker group BEFREE Correction: Hypoxia/reoxygenation-experienced cancer cell migration and metastasis are regulated by Rap1- and Rac1-GTPase activation <i>via</i> the expression of thymosin beta-4. 30680073 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.060 Biomarker phenotype BEFREE Correction: Hypoxia/reoxygenation-experienced cancer cell migration and metastasis are regulated by Rap1- and Rac1-GTPase activation <i>via</i> the expression of thymosin beta-4. 30680073 2018
CUI: C0853897
Disease: Diabetic Cardiomyopathies
Diabetic Cardiomyopathies 		0.010 Biomarker disease BEFREE Decoding telomere protein Rap1: Its telomeric and nontelomeric functions and potential implications in diabetic cardiomyopathy. 28853973 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE DOCK4 mutations are present in a subset of human cancer cell lines; a recurrent missense mutant identified in human prostate and ovarian cancers encodes a protein that is defective in Rap1 activation. 12628187 2003
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.080 GeneticVariation group BEFREE DOCK4 mutations are present in a subset of human cancer cell lines; a recurrent missense mutant identified in human prostate and ovarian cancers encodes a protein that is defective in Rap1 activation. 12628187 2003