Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity 		0.040 Biomarker disease BEFREE (2013) now extend this link, demonstrating that deletion of the telomere binding protein RAP1 leads to obesity and insulin resistance. 23809762 2013
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 Biomarker disease BEFREE 24 SNPs in eight genes (ERK, Dock180, C3G, Rap1, Src, CrkL, Mek and Crk) were significantly associated with gastric cancer risk in the individual SNP analyses in the discovery phase (p<0.05). 21698158 2011
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 Biomarker disease BEFREE 24 SNPs in eight genes (ERK, Dock180, C3G, Rap1, Src, CrkL, Mek and Crk) were significantly associated with gastric cancer risk in the individual SNP analyses in the discovery phase (p<0.05). 21698158 2011
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 Biomarker phenotype BEFREE Rap1-suppressed tumorigenesis is concomitant with the interference in ras effector signaling. 10675535 2000
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 AlteredExpression disease BEFREE Rap1 activity is elevated in malignant astrocytomas independent of tuberous sclerosis complex-2 gene expression. 12469204 2003
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.020 AlteredExpression disease BEFREE Rap1 activity is elevated in malignant astrocytomas independent of tuberous sclerosis complex-2 gene expression. 12469204 2003
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.030 AlteredExpression disease BEFREE Rap1 is variably expressed in whole cell lysates of squamous cell carcinoma (SCC) cell lines. 13679863 2003
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		0.010 Biomarker group BEFREE Rap1 and its regulator, SPA-1, could, therefore, provide unique molecular targets for the control of human hematologic malignancy. 15310461 2004
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.020 Biomarker phenotype BEFREE RAP1 expression may be a useful biomarker of tumor progression and survival. 17020976 2006
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 Biomarker phenotype BEFREE RAP1 was shown to have both mitogenic and tumorigenic properties in certain systems; however, the potential role of RAP1 mutation in thyroid carcinogenesis has yet to be elucidated. 18948674 2009
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 Biomarker phenotype BEFREE Rap1 stabilizes beta-catenin and enhances beta-catenin-dependent transcription and invasion in squamous cell carcinoma of the head and neck. 20028760 2010
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 Biomarker phenotype BEFREE Rap1, a small GTPase protein, has been implicated in cancer cell growth and invasion. 22266190 2012
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		0.010 GeneticVariation phenotype BEFREE Rap1 inhibition causes dysregulation in hepatic as well as adipose function, leading to glucose intolerance, insulin resistance, liver steatosis, and excess fat accumulation. 23791522 2013
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 AlteredExpression group BEFREE RABEX-5, a guanine nucleotide exchange factor (GEF) for RAB-5, plays an important role in cell mobility and altered expression associated with tumor metastasis. 23941575 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 AlteredExpression disease BEFREE RABEX-5 expression was examined in breast cancer, benign tumor and normal breast tissues by immunohistochemistry and western blot. 23941575 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 AlteredExpression disease BEFREE RABEX-5 expression was examined in breast cancer, benign tumor and normal breast tissues by immunohistochemistry and western blot. 23941575 2013
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm 		0.010 AlteredExpression group BEFREE RABEX-5 expression was found to be significantly higher in breast cancer tissues compared with benign tumor and normal breast tissues. 23941575 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.100 Biomarker phenotype BEFREE RABEX-5, a guanine-nucleotide exchange factor (GEF) for RAB-5, is implicated in tumorigenesis and in the development of certain human cancers. 25427001 2014
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		0.010 Biomarker phenotype BEFREE Rap1 deficiency in murine endothelium attenuates NO production and diminishes NO-dependent vasodilation, leading to endothelial dysfunction and hypertension, without deleterious effects on vessel integrity. 25807985 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 Biomarker group BEFREE Rap1 deficiency in murine endothelium attenuates NO production and diminishes NO-dependent vasodilation, leading to endothelial dysfunction and hypertension, without deleterious effects on vessel integrity. 25807985 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 AlteredExpression group BEFREE RAP1 (RAS proximate 1), a small GTP-binding protein of the RAS superfamily, is a putative oncogene that is highly expressed in several malignant cell lines and types of cancers, including some types of squamous cell carcinoma. 25856570 2015
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.030 AlteredExpression disease BEFREE RAP1 (RAS proximate 1), a small GTP-binding protein of the RAS superfamily, is a putative oncogene that is highly expressed in several malignant cell lines and types of cancers, including some types of squamous cell carcinoma. 25856570 2015
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.010 Biomarker phenotype BEFREE RABEX-5 has been studied in various solid tumors, but its role in combined small cell lung cancer (C-SCLC) remains unknown. 26002576 2015
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.010 Biomarker disease BEFREE RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome. 26280580 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 AlteredExpression disease BEFREE RABEX-5 mRNA expression was significantly upregulated in CRC tissues compared with the adjacent noncancerous tissues (p < 0.01). 28617553 2017