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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 AlteredExpression phenotype BEFREE A further study verified that the overexpression of LNK effectively reduced the invasion ability of the tumor cells in the transwell assay. 31706103 2020
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome
0.010 Biomarker disease BEFREE Reverse modulation of gene-expression and methylation in the same cellular compartment was observed for the IL21 and SH2B3 genes in CeD patients relative to CTRs. 31292504 2019
CUI: C0025202
Disease: melanoma
melanoma
0.010 Biomarker disease BEFREE Our study reveals an unappreciated function of LNK in melanoma and highlights the critical role of the IFN-STAT1-LNK signaling axis in this potentially devastating disease. 31110180 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.010 Biomarker disease BEFREE We found that LNK is significantly elevated in cutaneous melanoma; this elevation is correlated with hyperactive signaling of the RAS-RAF-MEK pathway. 31110180 2019
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases
0.010 GeneticVariation group BEFREE After Bonferroni correction, we found common variants in SH2B3, ABO, and ZEB2 to be associated with PAD ( P<4.5×10<sup>-5</sup>). 31070467 2019
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
0.010 GeneticVariation disease BEFREE Furthermore, deletion of LNK in human FA-like HSCs promotes clonogenic growth. 30254368 2018
CUI: C0023448
Disease: Lymphoid leukemia
Lymphoid leukemia
0.010 Biomarker disease BEFREE SH2B3 aberrations enriched in iAMP21 B lymphoblastic leukemia. 30005852 2018
CUI: C0241868
Disease: acute aortic dissection
acute aortic dissection
0.010 Biomarker disease BEFREE LNK deficiency promotes acute aortic dissection and rupture. 30333305 2018
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta
0.010 Biomarker disease BEFREE Thus, we identified a role for LNK in the pathology of AD in experimental animals and humans and describe a new model that can be used to inform both inherited and acquired forms of this disease. 30333305 2018
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.010 GeneticVariation disease BEFREE Furthermore, deletion of LNK in human FA-like HSCs promotes clonogenic growth. 30254368 2018
CUI: C0018939
Disease: Hematological Disease
Hematological Disease
0.010 GeneticVariation group BEFREE In this context, the LNK inhibitory adaptor protein encoded by the LNK/SH2B adaptor protein 3 (SH2B3) gene is the target of several genetic variations, acquired or inherited in MPNs, lymphoid leukemia and nonmalignant hematological diseases, underlying its importance in these pathological processes. 28484264 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.010 GeneticVariation disease BEFREE To understand the functional effects of LNK single-nucleotide polymorphisms and explore the mechanisms whereby LNK loss of function impacts atherosclerosis and thrombosis. 27430239 2016
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.010 GeneticVariation disease BEFREE To understand the functional effects of LNK single-nucleotide polymorphisms and explore the mechanisms whereby LNK loss of function impacts atherosclerosis and thrombosis. 27430239 2016
CUI: C0011311
Disease: Dengue Fever
Dengue Fever
0.010 GeneticVariation disease BEFREE To examine the possible association of these SNPs with DHF, 918 Thai patients with dengue [509 patients with DHF and 409 with dengue fever (DF)] were genotyped for five SNPs: rs5745568 in BAK1, rs6141 in THPO, rs6065 in GP1BA, rs739496 in SH2B3, and rs385893 in RCL1. 27401010 2016
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia
0.010 Biomarker disease BEFREE Hypercholesterolemia acts synergistically with LNK deficiency to increase interleukin 3/granulocyte-macrophage colony-stimulating factor receptor signaling in bone marrow myeloid progenitors, whereas in platelets cholesterol loading combines with Lnk deficiency to increase activation. 27430239 2016
CUI: C0947751
Disease: Vascular inflammations
Vascular inflammations
0.010 Biomarker phenotype BEFREE Genetic animal models with deletion or mutation of LNK revealed an important role for LNK in renal and vascular inflammation, glomerular injury, oxidative stress, interferon-γ production, and hypertension. 26717315 2016
Precursor B-cell lymphoblastic leukemia
0.010 Biomarker disease BEFREE Mechanistically, we demonstrated that LNK regulates pro-B progenitor homeostasis by attenuating IL-7-stimuated JAK/STAT5 signaling via a direct interaction with phosphorylated JAK3. 26974155 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE The loci that replicated (FDR < 5%) included APOE/TOMM40 (associated with Alzheimer's disease), CDKN2B/ANRIL (implicated in the regulation of cellular senescence), ABO (tags the O blood group), and SH2B3/ATXN2 (a signaling gene that extends lifespan in Drosophila and a gene involved in neurological disease). 26677855 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 Biomarker disease BEFREE Genetic variations in inflammation and its related subpathway components are keys to the development of lung, colorectal, ovary, and breast cancer, including SH2B3, which is associated with lung, colorectal, and breast cancer. 26319099 2015
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium
0.010 GeneticVariation disease BEFREE Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. 26621817 2015
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.010 GeneticVariation disease BEFREE This is the first study showing an association of the ATXN2/SH2B3 locus with susceptibility to GD. 25345847 2015
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.010 Biomarker group BEFREE The loci that replicated (FDR < 5%) included APOE/TOMM40 (associated with Alzheimer's disease), CDKN2B/ANRIL (implicated in the regulation of cellular senescence), ABO (tags the O blood group), and SH2B3/ATXN2 (a signaling gene that extends lifespan in Drosophila and a gene involved in neurological disease). 26677855 2015
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 Biomarker disease BEFREE LNK (SH2B3): paradoxical effects in ovarian cancer. 24704825 2015
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 GeneticVariation disease BEFREE We identified three pleiotropic loci within the inflammation pathway, including one novel locus in Ch12q24 encoding SH2B3 (rs3184504), which reached GWAS significance with a P value of 1.78 x 10(-8), and it showed an association with lung cancer (P = 2.01 x 10(-6)), colorectal cancer (GECCO P = 6.72x10(-6); CORECT P = 3.32x10(-5)), and breast cancer (P = .009). 26319099 2015
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.010 Biomarker disease BEFREE LNK (SH2B3): paradoxical effects in ovarian cancer. 24704825 2015