Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1
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
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1
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
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1
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
Entrez Id: 25970
Gene Symbol: SH2B1
SH2B1
0.130 Biomarker disease HPO