MID1, midline 1, 4281

N. diseases: 77; N. variants: 22
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 GeneticVariation group BEFREE Mutations in the MID1 gene have been associated with the X-linked form of Opitz Syndrome, a developmental disorder characterized by midline defects and intellectual disability. 28760657 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.020 AlteredExpression group BEFREE This study highlights the growing role of the ubiquitin pathway in intellectual disability and also, the difference in MID2 determined phenotype observed in this study compared with that of its paralogue MID1 reported in literature. 24115387 2014