IQSEC2, IQ motif and Sec7 domain ArfGEF 2, 23096

N. diseases: 155; N. variants: 33
Disease: Mental Retardation, X-Linked 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777261
rs587777261
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		A 0.700 CausalMutation CLINVAR Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. 23674175 2014