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: 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 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 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 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: 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: 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: 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: C0162538
Disease: Immunoglobulin A deficiency (disorder)
Immunoglobulin A deficiency (disorder) 		0.010 GeneticVariation disease BEFREE Genetic linkage of IgA deficiency to the major histocompatibility complex: evidence for allele segregation distortion, parent-of-origin penetrance differences, and the role of anti-IgA antibodies in disease predisposition. 10090895 1999
CUI: C0221373
Disease: Claw hand
Claw hand 		0.010 GeneticVariation disease BEFREE Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. 10330351 1999
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: C0339530
Disease: Progressive cone-rod dystrophy
Progressive cone-rod dystrophy 		0.010 GeneticVariation disease BEFREE Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. 8162077 1994
CUI: C0432028
Disease: Split foot
Split foot 		0.010 GeneticVariation disease BEFREE Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. 10330351 1999
CUI: C0751781
Disease: Dentatorubral-Pallidoluysian Atrophy
Dentatorubral-Pallidoluysian Atrophy 		0.010 GeneticVariation disease BEFREE However, the segregation ratio of single sperm with an expanded allele to ones with a normal allele is not statistically different ( P = 0.161) from the expected 1:1 segregation ratio, and thus segregation distortion of expanded alleles in meiosis in male patients with DRPLA was not demonstrated. 9949204 1999
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: 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: C3841475
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: 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: 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