CBL, Cbl proto-oncogene, 867

N. diseases: 172; N. variants: 33
Disease: chromosome 11q duplication syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795842
Disease: chromosome 11q duplication syndrome
chromosome 11q duplication syndrome 		0.020 GeneticVariation disease BEFREE The fragile site in 11q23.3, FRA11B, has been shown to cause chromosome deletions in vivo, its expression being associated with Jacobsen (11q-) syndrome. 10767345 2000
CUI: C0795842
Disease: chromosome 11q duplication syndrome
chromosome 11q duplication syndrome 		0.020 GeneticVariation disease BEFREE However, one case report has highlighted a possible relationship between the inheritance of a rare folate-sensitive fragile site in band 11q23.3 (FRA11B) and the chromosome 11q23-->qter deletion in Jacobsen (11q-) syndrome. 7881408 1994