|
Abdominal Pain
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
Abnormal platelet morphology
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of the skeletal system
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Acrocyanosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
acute aortic dissection
|
0.010 |
Biomarker
|
disease |
BEFREE |
LNK deficiency promotes acute aortic dissection and rupture.
|
30333305 |
2018 |
|
Acute Cerebrovascular Accidents
|
0.300 |
Biomarker
|
disease |
CTD_human |
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
|
29531354 |
2018 |
|
Acute leukemia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Acute lymphocytic leukemia
|
0.330 |
AlteredExpression
|
disease |
BEFREE |
Here, we explored the IL7R and SH2B3 expression in adult ALL and found that IL7R is significantly higher and Sh2B3 lower expressed in B-ALL compared to normal bone marrow control, and the IL7RhighSH2B3low is associated with high-risk factors, and with high relapse rate and low disease-free survival rate in the patients.
|
27322554 |
2016 |
|
Acute lymphocytic leukemia
|
0.330 |
Biomarker
|
disease |
BEFREE |
SH2B3 aberrations enriched in iAMP21 B lymphoblastic leukemia.
|
30005852 |
2018 |
|
Acute lymphocytic leukemia
|
0.330 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Overall, these results demonstrate a Knudson tumor suppressor role for SH2B3 in the pathogenesis of ALL and highlight a possible link between genetic predisposition factors in the pathogenesis of autoimmunity and leukemogenesis.
|
23908464 |
2013 |
|
Acute lymphocytic leukemia
|
0.330 |
Biomarker
|
disease |
BEFREE |
Overall, these results demonstrate a Knudson tumor suppressor role for SH2B3 in the pathogenesis of ALL and highlight a possible link between genetic predisposition factors in the pathogenesis of autoimmunity and leukemogenesis.
|
23908464 |
2013 |
|
Adenocarcinoma of large intestine
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
|
26621817 |
2015 |
|
Adenocarcinoma of large intestine
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study of colorectal cancer identifies six new susceptibility loci.
|
26151821 |
2015 |
|
Adenocarcinoma of large intestine
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
|
27197191 |
2016 |
|
Adenocarcinoma of large intestine
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Novel Common Genetic Susceptibility Loci for Colorectal Cancer.
|
29917119 |
2019 |
|
Adenocarcinoma of lung (disorder)
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.
|
27197191 |
2016 |
|
Adolescent idiopathic scoliosis
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
|
30019117 |
2018 |
|
Adult Acute Lymphocytic Leukemia
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Here, we explored the IL7R and SH2B3 expression in adult ALL and found that IL7R is significantly higher and Sh2B3 lower expressed in B-ALL compared to normal bone marrow control, and the IL7RhighSH2B3low is associated with high-risk factors, and with high relapse rate and low disease-free survival rate in the patients.
|
27322554 |
2016 |
|
Adult Acute Lymphocytic Leukemia
|
0.020 |
Biomarker
|
disease |
BEFREE |
Overall, these results demonstrate a Knudson tumor suppressor role for SH2B3 in the pathogenesis of ALL and highlight a possible link between genetic predisposition factors in the pathogenesis of autoimmunity and leukemogenesis.
|
23908464 |
2013 |
|
Albuminuria
|
0.200 |
Biomarker
|
phenotype |
RGD |
Mutation of SH2B3 (LNK), a genome-wide association study candidate for hypertension, attenuates Dahl salt-sensitive hypertension via inflammatory modulation.
|
25776069 |
2015 |
|
Alcohol consumption
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.
|
30698716 |
2019 |
|
Alcohol consumption
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.
|
29912962 |
2018 |
|
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 |
|
Amaurosis Fugax
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Amyotrophic Lateral Sclerosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Our novel observations suggest that genotyping of SNPs at this locus may be useful for the study of ALS risk in a high percentage of individuals and that ATXN2 and SH2B3 variants may interact in modulating the disease pathway.
|
22916186 |
2012 |