IQSEC2, IQ motif and Sec7 domain ArfGEF 2, 23096

N. diseases: 155; N. variants: 33
Disease: Chromosome Xp11.23-P11.22 Duplication Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2749022
Disease: Chromosome Xp11.23-P11.22 Duplication Syndrome
Chromosome Xp11.23-P11.22 Duplication Syndrome 		0.300 ChromosomalRearrangement disease ORPHANET Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders. 26059843 2016