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: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia
0.300 Biomarker disease CTD_human Rap1GAP alters leukemia cell differentiation, apoptosis and invasion in vitro. 22614916 2012
CUI: C0001430
Disease: Adenoma
Adenoma
0.010 AlteredExpression group BEFREE To confirm the significance of these findings, we analyzed Rap1GAP expression in a larger set of benign tumors (adenomas and hyperplastic nodules) and PTCs. 19066305 2009
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.020 AlteredExpression disease BEFREE To explore the functional significance of RAP1GAP depletion, RAP1GAP was transiently expressed at the lowest level that is sufficient to block endogenous RAP2 activity in papillary and anaplastic thyroid carcinoma cell lines. 22696507 2012
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.020 AlteredExpression disease BEFREE Treatment with the structurally distinct histone deacetylase (HDAC) inhibitors, sodium butyrate and trichostatin A, increased Rap1GAP expression in all the differentiated thyroid carcinoma cell lines and in four of the six ATC cell lines. 21367844 2011
Behavioral variant of frontotemporal dementia
0.010 AlteredExpression disease BEFREE Real-time polymerase chain reaction (PCR) confirmed a significant decrease in leukocytes mRNA messenger RNA (mRNA) levels of RAP1GAP in bvFTD patients as compared with avPPA (p = 0.049). 24368088 2014
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
0.010 AlteredExpression group BEFREE To confirm the significance of these findings, we analyzed Rap1GAP expression in a larger set of benign tumors (adenomas and hyperplastic nodules) and PTCs. 19066305 2009
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE To investigate whether the Epac-Rap-RapGAP pathway could play a potential role in thyroid tumorigenesis, the mRNA expressions of its constituent proteins were investigated in two malignant thyroid tumor types. 22240166 2012
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 AlteredExpression group BEFREE Previous findings indicate that Rap1GAP acts as a tumor suppressor inhibiting Ras superfamily protein Rap1 in multiple aggressive carcinomas; however, Rap1GAP expression in EAC has not been investigated. 28196746 2017
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.020 Biomarker disease BEFREE In conclusion, these results demonstrated that Rap1GAP promoted leukemia cell differentiation and apoptosis, but increased leukemia cell invasion in vitro. 22614916 2012
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 AlteredExpression disease BEFREE Decreased expression of Rap1GAP was significantly associated with depth of invasion, lymph node metastasis, advanced Tumor-Node-Metastasis stage and a poor prognosis in patients with CRC following surgery. 29725465 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 AlteredExpression disease BEFREE We show that Rap1GAP expression is decreased in primary colorectal carcinomas. 20439492 2010
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 AlteredExpression disease BEFREE RCC cell lines express distinct levels of cell adhesion proteins and the forced over-expression of Rap1GAP attenuated levels of both cadherins and integrins that are known to regulate the cancer cells invasion. 22266190 2012
Differentiated Thyroid Gland Carcinoma
0.010 AlteredExpression disease BEFREE Treatment with the structurally distinct histone deacetylase (HDAC) inhibitors, sodium butyrate and trichostatin A, increased Rap1GAP expression in all the differentiated thyroid carcinoma cell lines and in four of the six ATC cell lines. 21367844 2011
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation
0.300 Biomarker phenotype CTD_human Rap1GAP alters leukemia cell differentiation, apoptosis and invasion in vitro. 22614916 2012
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.010 Biomarker disease BEFREE Rap1GAP inhibits tumor progression in endometrial cancer. 28196746 2017
Familial multiple trichoepitheliomata
0.010 AlteredExpression disease BEFREE Patients with higher Rap1GAP, E-cadherin, and especially combined Rap1GAP/E-cadherin levels had better overall survival than EAC patients with no or weak expression. 28196746 2017
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
0.010 AlteredExpression disease BEFREE Podocyte-specific RAP1GAP expression contributes to focal segmental glomerulosclerosis-associated glomerular injury. 24642466 2014
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
0.010 AlteredExpression disease BEFREE The alteration of RAP1GAP mRNA levels may explain the clinical variability of GRN-FTLD patients. 24368088 2014
CUI: C0523827
Disease: Inorganic phosphate measurement
Inorganic phosphate measurement
0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C1334274
Disease: Invasive Carcinoma
Invasive Carcinoma
0.010 AlteredExpression phenotype BEFREE Immunoblotting results show that Rap1Gap levels in MCF10.Ca1D cells (a model of invasive carcinoma) are reduced compared to those in MCF10.DCIS (a model of DCIS). 30144784 2018
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast
0.010 AlteredExpression disease BEFREE Downregulation of Rap1Gap: A Switch from DCIS to Invasive Breast Carcinoma via ERK/MAPK Activation. 30144784 2018
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.010 GeneticVariation disease BEFREE Mutations of signal-induced proliferation-associated gene 1 (<i>SIPA1</i>), a RAP1 GTPase-activating protein, were reported in patients with juvenile myelomonocytic leukemia, a childhood myelodysplastic/myeloproliferative neoplasm (MDS/MPN). 29514790 2018
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