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DisGeNET5_variant_disease
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PubMed
15603661
Hemochromatosis, HFE C282Y homozygosity, and bariatric surgery: report of three cases. BACKGROUND: Iron absorption is decreased in some individuals who have undergone bariatric surgery. METHODS: We ev
1.1 KB
2015-11-18
3
7
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PubMed
20103646
Definition of a functional single nucleotide polymorphism in the cell migration inhibitory gene MIIP that affects the risk of breast cancer. The migration and invasion inhibitory protein MIIP is an in
1.37 KB
2025-10-02
8
5
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PubMed
10772658
A revised view of cardiac sodium channel "blockade" in the long-QT syndrome. Mutations in SCN5A, encoding the cardiac sodium (Na) channel, are linked to a form of the congenital long-QT syndrome (LQT3
1.57 KB
2015-11-21
5
3
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PubMed
10709887
Clinical, laboratory and molecular characteristics of children with Familial Mediterranean Fever-associated vasculitis. Familial Mediterranean Fever (FMF) is an autosomal recessive disease characteriz
1.55 KB
2015-11-15
5
5
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PubMed
15790678
Cyclin-dependent kinase 6 associates with the androgen receptor and enhances its transcriptional activity in prostate cancer cells. Cyclin-dependent kinase 6 (CDK6) binds to and is activated by cyclin
1.24 KB
2015-11-19
4
5
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PubMed
16501249
Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer. Mutations of the human RecQ helicase genes WRN and BLM lead to rare autosomal recessive disorders, Werner and Bloom s
1.59 KB
2015-11-19
4
10
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PubMed
12507906
The transcriptional co-activator cAMP response element-binding protein-binding protein is expressed in prostate cancer and enhances androgen- and anti-androgen-induced androgen receptor function. Prog
2.15 KB
2015-11-17
4
5
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PubMed
15818573
Homozygosity for a CHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype. It has recently been suggested that the frequency of the germline CHEK
1.84 KB
2015-11-19
4
5
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PubMed
15818669
Association of the Frizzled-related protein gene with symptomatic osteoarthritis at multiple sites. OBJECTIVE: To confirm the association of 2 variants of the Frizzled-related protein gene (FRZB) with
1.7 KB
2015-11-19
4
8
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PubMed
15820225
Bipolar disorder and polymorphisms in the dysbindin gene (DTNBP1). BACKGROUND: Several studies support the dysbindin (dystrobrevin binding protein 1) gene (DTNBP1) as a susceptibility gene for schizop
1.47 KB
2025-10-02
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