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DisGeNET5_variant_disease
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PubMed
23460508
Association of polymorphisms in the leptin and leptin receptor genes with inflammatory mediators in patients with osteoporosis. Bone mass and inflammation are implicated in the pathogenesis of osteopo
1.77 KB
2015-11-27
7
8
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PubMed
23479407
First-line management of EGFR-mutated advanced lung adenocarcinoma: recent developments. Gefitinib and erlotinib are small-molecule reversible tyrosine kinase inhibitors (TKIs) of epidermal growth fac
1.35 KB
2015-11-27
6
5
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PubMed
23556446
Association of ATP-binding cassette transporter variants with the risk of Alzheimer's disease. AIM: A number of studies have demonstrated that ABCB1 and BCRP (ABCG2) actively transport Aβ. We aimed to
1.42 KB
2025-10-02
8
8
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PubMed
23556448
Association of a functional FAAH polymorphism with methamphetamine-induced symptoms and dependence in a Malaysian population. AIM: FAAH is a membrane enzyme that terminates the activity of a large cla
1.7 KB
2015-11-27
6
8
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PubMed
16585161
Two transforming C-RAF germ-line mutations identified in patients with therapy-related acute myeloid leukemia. Mutations leading to activation of the RAF-mitogen-activated protein kinase/extracellular
1.48 KB
2015-11-19
5
5
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PubMed
10634821
The private hepatocyte nuclear factor-1alpha G319S variant is associated with plasma lipoprotein variation in Canadian Oji-Cree. We previously showed an extremely strong association between type 2 dia
1.65 KB
2015-11-15
6
5
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PubMed
18775308
XBP1 links ER stress to intestinal inflammation and confers genetic risk for human inflammatory bowel disease. Inflammatory bowel disease (IBD) has been attributed to aberrant mucosal immunity to the
1.24 KB
2015-11-24
19
7
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PubMed
11157981
PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome. The Rieger syndrome is an autosomal dominant disease characterized by ocular, c
1.24 KB
2015-11-17
5
5
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PubMed
22016685
A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency. Factor XI (FXI) deficiency is a rare autosomal recessive coagulation diso
1.34 KB
2015-11-26
10
3
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PubMed
21695597
MHC region and risk of systemic lupus erythematosus in African American women. The major histocompatibility complex (MHC) on chromosome 6p21 is a key contributor to the genetic basis of systemic lupus
1.97 KB
2015-11-26
29
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