rs267607186, IQSEC2

N. diseases: 1
Disease: Mental Retardation, X-Linked 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mental Retardation, X-Linked 1
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
0.700 GeneticVariation UNIPROT Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. 26793055 2015
Mental Retardation, X-Linked 1
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
0.700 GeneticVariation UNIPROT Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010