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: 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: 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: 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: 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: C0220697
Disease: POLYDACTYLY, POSTAXIAL
POLYDACTYLY, POSTAXIAL 		0.010 Biomarker disease BEFREE Segregation distortion in the offspring of Afro-American fathers with postaxial polydactyly. 7726178 1995
CUI: C0221269
Disease: Pseudolymphoma
Pseudolymphoma 		0.010 Biomarker disease BEFREE Immunostaining showed that the majority of DLBCLs (92%, 46/50) were RanGAP1(+), while reactive lymphoid hyperplasia (n = 12) was RanGAP1(+) predominantly in germinal centers. 24223200 2013
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: C0751265
Disease: Learning Disabilities
Learning Disabilities 		0.010 Biomarker disease BEFREE FRAXA and FRAXE: evidence against segregation distortion and for an effect of intermediate alleles on learning disability. 9435259 1998
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma 		0.010 Biomarker disease BEFREE Ran GTPase-activating protein 1 is a therapeutic target in diffuse large B-cell lymphoma. 24223200 2013
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.010 Biomarker disease BEFREE Analysis of a large cone-rod dystrophy pedigree suggested that inheritance within the family was influenced by meiotic drive (p = 0.008), a rare segregation distortion in human genetics. 8162077 1994
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.010 Biomarker disease BEFREE Analysis of a large cone-rod dystrophy pedigree suggested that inheritance within the family was influenced by meiotic drive (p = 0.008), a rare segregation distortion in human genetics. 8162077 1994
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		0.010 Biomarker disease BEFREE Analysis of a large cone-rod dystrophy pedigree suggested that inheritance within the family was influenced by meiotic drive (p = 0.008), a rare segregation distortion in human genetics. 8162077 1994
CUI: C4552000
Disease: Episodic Kinesigenic Dyskinesia 1
Episodic Kinesigenic Dyskinesia 1 		0.010 Biomarker disease BEFREE The main purpose of the study was to determine if PKD shows any segregation distortion and to obtain new estimates of the age-dependent penetrance. 8349100 1993
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: 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: 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: 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
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin 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: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin 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: C0278764
Disease: Adult Burkitt Lymphoma
Adult 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