Disease: mosaic variegated aneuploidy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		0.400 GeneticVariation disease BEFREE Together, these data demonstrate that BUBR1 allelic effects beyond protein level and aneuploidy contribute to disease heterogeneity in both MVA patients and heterozygous carriers of MVA mutations. 31738183 2020
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		0.400 GeneticVariation disease BEFREE Type 1 MVA (MVA1) is caused by mutations in the budding uninhibited by benzimidazoles 1 homolog beta (BUB1B) gene. 31053147 2019
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		0.400 GeneticVariation disease BEFREE Although microcephaly is a prominent feature of MVA carrying the BUB1B mutation, how BubR1 deficiency disturbs neural progenitor proliferation and neuronal output and leads to microcephaly is unknown. 30668728 2019
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		0.400 GeneticVariation disease BEFREE Germline mutations in BUB1B, encoding BUBR1, one of the crucial components of the spindle assembly checkpoint (SAC), have been shown to cause variable phenotypes, including the recessive mosaic variegated aneuploidy (MVA) syndrome, which predisposes to cancer. 27239782 2016
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		0.400 Biomarker disease BEFREE Analysis published human data revealed that human recurrent pregnancy loss (RPL) embryos and rare infant patients carrying BubR1 mutations that have been described so far have the PSCS and MVA as in BubR1 deficient/insufficient mice. 24981203 2014
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		0.400 GeneticVariation disease BEFREE Mutations in BUB1B and CEP57 genes, which are involved in mitotic spindle and microtubule stabilization, respectively, are responsible for a subset of patients with MVA. 24259107 2014
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		0.400 GeneticVariation disease BEFREE The majority of MVA cases are linked to mutations in BUBR1, a mitotic checkpoint gene required for proper chromosome segregation. 23300461 2012
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		0.400 GeneticVariation disease BEFREE Germline mutations in the budding uninhibited by benzimidazoles 1 homolog beta gene encoding BUBR1 cause premature chromatid separation (mosaic variegated aneuploidy) [PCS (MVA)] syndrome, which is characterized by constitutional aneuploidy and a high risk of childhood cancer. 21389084 2011
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		0.400 GeneticVariation disease BEFREE Combined analysis of patient cells and functional protein replacement shows that all MVA mutations fall in two distinct classes: those that impose specific defects in checkpoint activity or microtubule attachment and those that lower BUBR1 protein abundance. 20516114 2010
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		0.400 Biomarker disease BEFREE The distinct MVA clinical groups delineated here point to involvement of at least another mitotic spindle checkpoint gene in addition to the BUB1B gene. 18548531 2008
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		0.400 Biomarker disease BEFREE Biallelic and heterozygous mutations of the BUB1B gene have been reported in mosaic variegated aneuploidy (MVA), a rare disorder characterized by constitutional mosaic aneuploidies associated to severe intrauterine growth retardation, microcephaly and, in most cases, to premature chromatid separation (PCS), highlighting the key role of human BUBR1 in chromosome segregation. 18932004 2008
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		0.400 GeneticVariation disease BEFREE Mutations in the BUB1B gene that encodes a key mitotic spindle checkpoint protein have been described in MVA; however, no mutations of this gene were identified in our patient. 17632782 2007
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		0.400 GeneticVariation disease BEFREE We previously demonstrated that constitutional BUB1B mutations cause mosaic variegated aneuploidy, a condition characterized by constitutional aneuploidies and childhood cancer predisposition. 16182441 2006
CUI: C4733331
Disease: mosaic variegated aneuploidy
mosaic variegated aneuploidy 		0.400 Biomarker disease GENOMICS_ENGLAND