RANGAP1, Ran GTPase activating protein 1, 5905

N. diseases: 49; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.310 Biomarker disease CTD_human We have reported that ON 01910.Na (rigosertib), a multikinase inhibitor, is selectively cytotoxic for DLBCL and induces more hyperphosphorylation and sumoylation of Ran GTPase-activating protein 1 (RanGAP1) in DLBCL cells than in non-neoplastic lymphoblastoid cell line. 27150054 2016
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		0.310 Biomarker disease BEFREE Furthermore, ON 01910.Na (Estybon), a multikinase inhibitor induced cell death, mitotic cell arrest, and hyperphosphorylation of RanGAP1 in DLBCL cell lines but no effects in normal B and T cells. 24223200 2013
CUI: C0149940
Disease: Sciatic Neuropathy
Sciatic Neuropathy 		0.200 Biomarker disease RGD Localized regulation of axonal RanGTPase controls retrograde injury signaling in peripheral nerve. 18667152 2008
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.100 GeneticVariation phenotype GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.040 GeneticVariation disease BEFREE The concept of segregation distortion, where there is preferential transmission of the larger allele at the DM locus, has been put forward to explain partially the maintenance of DM in the population. 9863607 1998
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.040 GeneticVariation disease BEFREE Dynamic balance of segregation distortion and selection maintains normal allele sizes at the myotonic dystrophy locus. 9401353 1998
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.040 GeneticVariation disease BEFREE This suggests that any greater amount of segregation distortion at the myotonic dystrophy locus must result from events following sperm ejaculation. 8808606 1996
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.040 Biomarker disease BEFREE Segregation distortion of the CTG repeats at the myotonic dystrophy locus. 8659513 1996
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.020 Biomarker disease BEFREE Correction: MicroRNA-1301-Mediated RanGAP1 Downregulation Induces BCR-ABL Nuclear Entrapment to Enhance Imatinib Efficacy in Chronic Myeloid Leukemia Cells. 28267803 2019
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		0.020 Biomarker disease BEFREE Altogether, we demonstrated that RanGAP1 downregulation can mediate BCR-ABL nuclear entrapment to activate P73-dependent apoptosis pathway which is a novel strategy for improving current IM treatment for CML. 27228340 2016
CUI: C0023418
Disease: leukemia
leukemia 		0.020 AlteredExpression disease BEFREE RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%). 24223200 2013
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.020 AlteredExpression disease BEFREE RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%). 24223200 2013
CUI: C0023418
Disease: leukemia
leukemia 		0.020 GeneticVariation disease BEFREE Therefore, the existence of another genetic region linked to the MHC, causing segregation distortion, and containing recessive leukemia susceptibility genes may be postulated. 1610974 1992
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.020 GeneticVariation disease BEFREE Therefore, the existence of another genetic region linked to the MHC, causing segregation distortion, and containing recessive leukemia susceptibility genes may be postulated. 1610974 1992
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 Biomarker disease BEFREE Additionally, circ-RanGAP1 silencing remarkably suppressed tumor growth and metastasis of GC in vivo. 31811909 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE Additionally, circ-RanGAP1 silencing remarkably suppressed tumor growth and metastasis of GC in vivo. 31811909 2020
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 Biomarker disease BEFREE Additionally, circ-RanGAP1 silencing remarkably suppressed tumor growth and metastasis of GC in vivo. 31811909 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease BEFREE We discuss the possibility that segregation distortion during spermatogenesis accounts for a subset of ASD mutations. 28733602 2017
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 Biomarker disease BEFREE RanGAP physically interacts with HRE RNA and is mislocalized in HRE-expressing flies, neurons from C9orf72 ALS patient-derived induced pluripotent stem cells (iPSC-derived neurons), and in C9orf72 ALS patient brain tissue. 26308891 2015
CUI: C0017638
Disease: Glioma
Glioma 		0.010 AlteredExpression disease BEFREE Inhibition of RNA transportation induces glioma cell apoptosis via downregulation of RanGAP1 expression. 25746355 2015
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.010 GeneticVariation disease BEFREE Data shown here provides further evidence for the contribution of DLX5 point mutations to the development of ectrodactyly and suggest the possibility of sex-related segregation distortion with an excess of affected males. 25196357 2014
CUI: C2699510
Disease: Split-Hand/Foot Malformation
Split-Hand/Foot Malformation 		0.010 GeneticVariation disease BEFREE Data shown here provides further evidence for the contribution of DLX5 point mutations to the development of ectrodactyly and suggest the possibility of sex-related segregation distortion with an excess of affected males. 25196357 2014
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		0.010 GeneticVariation disease BEFREE Data shown here provides further evidence for the contribution of DLX5 point mutations to the development of ectrodactyly and suggest the possibility of sex-related segregation distortion with an excess of affected males. 25196357 2014
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		0.010 AlteredExpression disease BEFREE RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%). 24223200 2013
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.010 AlteredExpression disease BEFREE RanGAP1 was also highly expressed in other B-cell lymphomas (BCL, n = 180) with brisk mitotic activity (B-lymphoblastic lymphoma/leukemia: 93%, and Burkitt lymphoma: 95%) or cell-cycle dysregulation (mantle cell lymphoma: 83%, and Hodgkin's lymphoma 91%). 24223200 2013