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DisGeNET5_variant_disease
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PubMed
25855220
Plasma extracellular superoxide dismutase concentration, allelic variations in the SOD3 gene and risk of myocardial infarction and all-cause mortality in people with type 1 and type 2 diabetes. BACKGR
2.47 KB
2015-09-16
6
3
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PubMed
21497535
Association of interleukin-4 receptor gene polymorphisms with rheumatoid arthritis in Egyptian female patients. OBJECTIVES: The imbalance between proinflammatory and anti-inflammatory cytokines is a f
1.25 KB
2025-10-02
10
14
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PubMed
18212565
Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia. BACKGROUND: Mutations in the skeletal muscle ryanodine receptor gene
1.88 KB
2015-11-23
7
3
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PubMed
16781478
Classification of chronic myeloid disorders: from Dameshek towards a semi-molecular system. Hematological malignancies are phenotypically organized into lymphoid and myeloid disorders, although such a
1.48 KB
2015-11-19
6
5
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PubMed
24595507
Association between the brain-derived neurotrophic factor Val66Met polymorphism and therapeutic response to olanzapine in schizophrenia patients. RATIONALE: Brain-derived neurotrophic factor (BDNF) is
1.88 KB
2016-01-15
5
5
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PubMed
11439001
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11. Pseudoxanthoma elasticum (PXE) is a mendelian disorder characterized by calcification o
1.47 KB
2015-11-17
12
65
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PubMed
17442111
The interferon induced with helicase domain 1 A946T polymorphism is not associated with rheumatoid arthritis. An important feature of autoimmune diseases is the overlap of pathophysiological character
1.31 KB
2015-11-23
6
8
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PubMed
20363506
Genome-wide association study of normal tension glaucoma: common variants in SRBD1 and ELOVL5 contribute to disease susceptibility. PURPOSE: Factors contributing to the development of normal tension g
1.64 KB
2025-10-02
9
3
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PubMed
11683913
Regulation of the activity of the transcription factor Runx2 by two homeobox proteins, Msx2 and Dlx5. BACKGROUND: Runx2, formerly called PEBP2alphaA or Cbfa1, is a transcription factor whose deletion
1.4 KB
2015-11-17
4
3
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PubMed
24149102
Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma. In addition to HLA, recent genome-wide association studies (GWASs) of Hodgkin's lymphoma (HL) have identified susceptibility l
959 Bytes
2016-01-15
17
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