Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 284948
Gene Symbol: SH2D6
SH2D6
0.020 GeneticVariation disease BEFREE 2p11.2 microdeletions encompassing ELMOD3, CAPG and SH2D6 genes have been described in four unrelated ASD families. 31800155 2020
Entrez Id: 284948
Gene Symbol: SH2D6
SH2D6
0.020 Biomarker disease BEFREE In our study, using copy number variants (CNV) analysis, we identified a rare homozygous deletion in 2p11.2 region that affects ELMOD3, CAPG, and SH2D6 genes in a boy with ASD, intellectual disability (ID), and hearing impairment (HI). 30284680 2019