SH2B3, SH2B adaptor protein 3, 10019

N. diseases: 212; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.460 GeneticVariation disease GWASCAT Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393 2011
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.460 GeneticVariation disease GWASDB A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. 21980299 2011
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.460 GeneticVariation disease BEFREE The SH2B3 784T>C variant could contribute to the pathogenesis of T1D through impaired immune response that promotes activation and expansion of self-reactive lymphocytes in susceptible individuals. 20546165 2011
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.460 GeneticVariation disease BEFREE PTPN22 (1p13.2), STAT4 (2q32.2), CTLA4 (2q33.2), HLA (6p21), IL2RA (10p15.1), INS (11p15.5), ERBB3 (12q13.2), SH2B3 (12q24.12), and CLEC16A (16p13.13) were convincingly associated with autoimmune diabetes in adults (P ≤ 0.002), with consistent directions of effect as reported for pediatric type 1 diabetes. 21873553 2011
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.460 Biomarker disease CTD_human Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. 21378990 2011
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.460 GeneticVariation disease GWASDB Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.460 GeneticVariation disease GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480 2009
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.460 GeneticVariation disease BEFREE The 32-bp insertion-deletion variant on chromosome 3p21 was newly identified as a type 1 diabetes locus (P=1.81x10(-8)) and was also associated with celiac disease, along with PTPN2 on chromosome 18p11 and CTLA4 on chromosome 2q33, bringing the total number of loci with evidence of a shared association to seven, including SH2B3 on chromosome 12q24. 19073967 2008
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.420 Biomarker disease BEFREE MicroRNA-29b upregulation improves myocardial fibrosis and cardiac function in myocardial infarction rats through targeting SH2B3. 31799683 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.420 Biomarker disease CTD_human We also found that a nonsynonymous SNP at 12q24, in SH2B3, associated significantly (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls). 19198610 2009
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.420 GeneticVariation disease BEFREE We also found that a nonsynonymous SNP at 12q24, in SH2B3, associated significantly (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls). 19198610 2009
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.420 Biomarker disease HPO
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.420 CausalMutation disease CLINVAR
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.410 AlteredExpression group BEFREE The mutation prevalence rates of Janus kinase 2 and SH2B adaptor protein 3 were significantly higher in the MDS unclassified group and in the very high-risk groups with a karyotype as a prognostic indicator, respectively (both P<0.05). 31612018 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.410 GeneticVariation group GWASCAT Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.410 Biomarker group CTD_human Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. 29531354 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.410 Biomarker group BEFREE Our findings identify LNK as a stroke-specific, endogenous negative regulator of NSPC proliferation, and suggest that LNK signaling is a novel mechanism influencing plastic responses in postischemic brain. 22496561 2012
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.410 Biomarker group HPO
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.410 CausalMutation group CGI
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.410 GenomicAlterations group CGI
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.400 CausalMutation disease CLINVAR
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.400 Biomarker disease HPO
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis 		0.400 Biomarker disease CTD_human
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.400 GeneticVariation disease CLINVAR
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.400 CausalMutation disease CLINVAR