Gene: IQSEC2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2 		0.130 CausalMutation disease CLINVAR A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability. 26733290 2016
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2 		0.130 GeneticVariation disease BEFREE Variants in IQSEC2 cause moderate to severe intellectual disability in males and a variable phenotype in females because this gene escapes from X-chromosome inactivation. 26733290 2016
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2 		0.130 Biomarker disease BEFREE Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic features. 25858702 2015
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2 		0.130 GeneticVariation disease BEFREE Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. 23674175 2014
Entrez Id: 23096
Gene Symbol: IQSEC2
IQSEC2 		0.130 Biomarker disease HPO