IQSEC2, IQ motif and Sec7 domain ArfGEF 2, 23096

N. diseases: 155; N. variants: 33
Disease: MENTAL RETARDATION, X-LINKED 78 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845181
Disease: MENTAL RETARDATION, X-LINKED 78
MENTAL RETARDATION, X-LINKED 78 		0.300 Biomarker disease CTD_human Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015