RANGAP1, Ran GTPase activating protein 1, 5905

N. diseases: 49; N. variants: 2
Disease: Myotonic Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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