APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Disease: Monosomy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026499
Disease: Monosomy
Monosomy 		0.010 GeneticVariation group BEFREE Dysmorphic features, moderate mental impairment and minor brain malformations could result from the 21q monosomy and particularly the partial deletion of the APP-SOD1 region. 21876345 2011