RAP1GAP, RAP1 GTPase activating protein, 5909

N. diseases: 63; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.300 GeneticVariation disease UNIPROT
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder)
0.010 GeneticVariation disease BEFREE In this study, we characterized the rat Tsc2 cDNA and found that it is highly homologous with the human gene, including a conserved rap1GAP catalytic domain. 8519695 1995
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.010 GeneticVariation disease BEFREE Individuals with tuberous sclerosis complex (TSC) develop astrocytoma-like tumors resulting from mutations in the TSC2 protein, tuberin, which is hypothesized to function as a Rap1 GTPase activating protein (GAP). 12469204 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 AlteredExpression group BEFREE The retrovirally tagged genes Plekhb1, Prex1, Prkg2, Sox10 and 1200004M23Rik were upregulated in the tumors but had a different expression profile than Pdgfralpha whereas Rap1gap, Gli1, Neurl and Camk2b were downregulated in the tumors. 15750623 2005
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.330 Biomarker disease BEFREE Collectively, our data identify rap1GAP as a putative tumor suppressor gene in pancreatic cancer. 16424023 2006
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.310 Biomarker disease LHGDN Identification of a putative tumor suppressor gene Rap1GAP in pancreatic cancer. 16424023 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Furthermore, SCC cells transfected with rap1GAP produced significantly smaller tumors in nude mice as compared to controls (P < 0.01). 16436672 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Collectively, our data identify rap1GAP as a putative tumor suppressor gene in pancreatic cancer. 16424023 2006
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.030 Biomarker disease BEFREE Collectively, our data identify rap1GAP as a putative tumor suppressor gene in pancreatic cancer. 16424023 2006
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.020 AlteredExpression disease BEFREE The results demonstrate that expression of rap1GAP in oropharyngeal SCC down-regulated active rap1, ERK activation, and proliferation. 16436672 2006
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.020 AlteredExpression disease LHGDN Furthermore, SCC cells transfected with rap1GAP produced significantly smaller tumors in nude mice as compared to controls (P < 0.01). 16436672 2006
Squamous cell carcinoma of oropharynx
0.010 Biomarker disease BEFREE Rap1GAP inhibits tumor growth in oropharyngeal squamous cell carcinoma. 16436672 2006
CUI: C0553694
Disease: Oropharyngeal disorders
Oropharyngeal disorders
0.010 AlteredExpression group BEFREE The results demonstrate that expression of rap1GAP in oropharyngeal SCC down-regulated active rap1, ERK activation, and proliferation. 16436672 2006
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.350 AlteredExpression disease BEFREE In support of that notion, Rap1GAP was highly expressed in normal human thyroid cells and downregulated in primary thyroid tumors. 17646383 2007
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.090 Biomarker phenotype BEFREE Collectively, these data implicate Rap1GAP as a putative tumor/invasion suppressor in the thyroid. 17646383 2007
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.030 Biomarker phenotype BEFREE Previous work identified the Rap1 GTPase-activating protein Sipa1 as a germ-line-encoded metastasis modifier. 18427120 2008
CUI: C0023418
Disease: leukemia
leukemia
0.020 AlteredExpression disease BEFREE Several candidate genes which were differentially expressed in MDS patients versus normal controls were selected and confirmed in expanding samples by quantitative real-time reverse transcription-polymerase chain reaction after clustering and bioinformatics analysis. one of these genes, RAP1GAP, was found to be expressed at a significantly higher level in patients with MDS in comparison with those suffering from other hematopoietic diseases including leukemia (P < 0.01). 18551404 2008
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.020 AlteredExpression disease BEFREE Several candidate genes which were differentially expressed in MDS patients versus normal controls were selected and confirmed in expanding samples by quantitative real-time reverse transcription-polymerase chain reaction after clustering and bioinformatics analysis. one of these genes, RAP1GAP, was found to be expressed at a significantly higher level in patients with MDS in comparison with those suffering from other hematopoietic diseases including leukemia (P < 0.01). 18551404 2008
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.020 AlteredExpression group BEFREE We propose that over-expression of RAP1GAP gene may play a role in the pathogenesis of MDS. 18551404 2008
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.020 AlteredExpression group LHGDN We propose that over-expression of RAP1GAP gene may play a role in the pathogenesis of MDS. 18551404 2008
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.350 Biomarker disease BEFREE The more frequent and greater down-regulation of Rap1GAP in PTCs compared with adenomas suggests a role for Rap1GAP depletion in the progression of human thyroid tumors, possibly through unrestrained Rap activity. 19066305 2009
CUI: C0025202
Disease: melanoma
melanoma
0.340 Biomarker disease CTD_human Taken together, our findings indicate that down-regulation of Rap1GAP via promoter hypermethylation promotes melanoma cell proliferation, survival, and migration. 19147557 2009
CUI: C0025202
Disease: melanoma
melanoma
0.340 AlteredExpression disease LHGDN Taken together, our findings indicate that down-regulation of Rap1GAP via promoter hypermethylation promotes melanoma cell proliferation, survival, and migration. 19147557 2009
CUI: C0025202
Disease: melanoma
melanoma
0.340 AlteredExpression disease BEFREE In addition, overexpression of Rap1GAP also inhibits focal adhesion formation and decreases melanoma cell migration. 19147557 2009
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 PosttranslationalModification group BEFREE Rap1GAP down-regulation is due to its promoter methylation, a mechanism of gene silencing in tumors. 19147557 2009