DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Mental impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.020 GeneticVariation disease BEFREE Dystrophin gene mutation positions were dichotomized into groups (upstream versus downstream of exon 43, location of isoforms previously linked to intellectual impairment). 30375314 2018
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.020 GeneticVariation disease BEFREE No clear association has been found between DNA mutations, protein expression, and IQ scores, although distal deletions in the dystrophin gene have been reported in association with intellectual impairment. 10953192 2000