SH2B1, SH2B adaptor protein 1, 25970

N. diseases: 140; N. variants: 19
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation disease BEFREE A 200∼240 kb SH2B1-containing deletion region on 16p11.2 is associated with early-onset obesity and developmental delay. 28544142 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 Biomarker disease BEFREE In the second part of this study, Multiplex Amplicon Quantification (MAQ) analysis was used to identify CNVs in the distal SH2B1-containing chr.16p11.2 region in 421 obese children and adolescents with no developmental delay or behavioral phenotype. 26031769 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation disease BEFREE Deletions of the 16p11.2 SH2B1-containing region are pathogenic and are associated with developmental delay in addition to obesity. 20808231 2010
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 Biomarker disease HPO