SH2D6, SH2 domain containing 6, 284948

N. diseases: 4; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.020 GeneticVariation disease BEFREE 2p11.2 microdeletions encompassing ELMOD3, CAPG and SH2D6 genes have been described in four unrelated ASD families. 31800155 2020
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		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
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.010 Biomarker group BEFREE ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario. 31800155 2020
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.010 Biomarker phenotype 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