Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.040 GeneticVariation group BEFREE Recurrent microdeletions of this region including the MAPT and the CHRH1 genes have been shown to be a relatively frequent cause of intellectual disability, while only a few reciprocal duplications in patients with variable cognitive disorders have been published so far. 22678764 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.040 GeneticVariation group BEFREE Two of these more broadly expressed gene family members, LRRC37A1 and A4, define the boundary of a common human inversion polymorphism mapping to chromosome 17q21.31 (the MAPT locus)-a region associated with risk for frontal temporal dementia, Parkinsonism, and intellectual disability. 22419166 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.040 GeneticVariation group BEFREE Finally, complete deletions of the MAPT gene have been associated with mental retardation, hypotonia and facial dysmorphism. 22817714 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.040 GeneticVariation group BEFREE Recurrent deletions of the 17q21.31 region encompassing the microtubule-associated protein tau (MAPT) gene have recently been described in patients with mental retardation. 17707586 2007