MID1, midline 1, 4281

N. diseases: 77; N. variants: 22
Disease: Developmental Disabilities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.020 Biomarker group BEFREE MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders. 11806752 2002
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.020 GeneticVariation group BEFREE A member of this protein family, MID1, is the gene responsible for the X-linked form of Opitz G/BBB syndrome, a developmental disorder characterized by defects of the midline structures. 10400986 1999