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 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: 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 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: 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: 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: 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: 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: 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: 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: 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: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.010 GeneticVariation disease BEFREE It was suggested that segregation distortion is not a mechanism which contributes to the maintenance of polymorphism in the beta-thalassemia system in the population of the Ferrara area. 930927 1977
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: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.010 Biomarker disease BEFREE Single sperm typing can address questions about segregation distortion in man, and it is unlikely that sex ratio distortion for CF carriers is due to events which occur pre-fertilisation. 7684944 1993
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation disease BEFREE Analysis of the 50 diabetic sib sets, and independently of the Italian and British groups of affected sib pairs, revealed no segregation distortion between the marker locus and NIDDM. 1446805 1992
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.010 Biomarker disease BEFREE Such a segregation distortion is difficult to assess for the fra(X) syndrome because of incomplete penetrance, variable expression and probable ascertainment biases. 3177475 1988
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: 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
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		0.010 GeneticVariation disease BEFREE Segregation distortion of wild-type alleles at the Machado-Joseph disease locus: a study in normal families from the Azores islands (Portugal). 18286225 2008
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: C0027404
Disease: Narcolepsy
Narcolepsy 		0.010 Biomarker disease BEFREE These data show that there is no significant segregation distortion of the DR2/DQw1 haplotype in Japanese patients with narcolepsy. 3263961 1988
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: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 Biomarker disease BEFREE These results indicate that antioxidant defence is altered in the schizophrenic hippocampus and suggest that segregation distortion, of schizophrenia susceptibility genes, may be a possible causative factor in the high incidence of schizophrenia.Molecular Psychiatry (2000) 5, 85-90. 10673773 2000
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		0.010 AlteredExpression group 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