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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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 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: 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: 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: 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: 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: 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: 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: 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