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: rs1569291627
rs1569291627
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		T 0.700 GeneticVariation CLINVAR Synaptic functions of the IQSEC family of ADP-ribosylation factor guanine nucleotide exchange factors. 27369185 2017
dbSNP: rs1569291627
rs1569291627
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		T 0.700 GeneticVariation CLINVAR Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression. 27009485 2016
dbSNP: rs1569291627
rs1569291627
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		T 0.700 GeneticVariation CLINVAR The molecular and phenotypic spectrum of IQSEC2-related epilepsy. 27665735 2016
dbSNP: rs1569291627
rs1569291627
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		T 0.700 GeneticVariation CLINVAR Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability. 21686261 2010
dbSNP: rs1569291627
rs1569291627
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2
CUI: C2931498
Disease:
Mental Retardation, X-Linked 1 		T 0.700 GeneticVariation CLINVAR Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability. 20473311 2010