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DisGeNET5_variant_disease
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DisGeNET5_variant_disease
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PubMed
26338423
EGFR-L858R mutant enhances lung adenocarcinoma cell invasive ability and promotes malignant pleural effusion formation through activation of the CXCL12-CXCR4 pathway. Malignant pleural effusion (MPE)
1.51 KB
2016-01-25
15
15
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PubMed
17564961
Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state. We identif
1.69 KB
2015-11-23
5
3
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PubMed
24567965
Haptoglobin and myeloperoxidase (- G463A) gene polymorphisms in Brazilian sickle cell patients with and without secondary iron overload. We aimed to investigate the influence of haptoglobin (Hp) and m
1.94 KB
2025-10-02
8
5
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PubMed
24628819
IL10 single nucleotide polymorphisms are related to upregulation of constitutive IL-10 production and susceptibility to Helicobacter pylori infection. BACKGROUND: Helicobacter pylori infection is a st
2.01 KB
2025-10-02
7
16
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PubMed
23357225
Association study of candidate genes for the progression of hand osteoarthritis. OBJECTIVE: Although a few consistent osteoarthritis (OA) susceptibility genes have been identified, little is known on
1.81 KB
2025-10-02
7
8
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PubMed
17448150
The Arctic Alzheimer mutation favors intracellular amyloid-beta production by making amyloid precursor protein less available to alpha-secretase. Mutations within the amyloid-beta (Abeta) domain of th
1.6 KB
2015-12-24
3
3
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PubMed
19132419
A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated. Hereditary sensory neuropathy type 1 (HSAN I) is an
1.46 KB
2015-11-24
4
3
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PubMed
24929890
Phenotypic drug screening and target validation for improved personalized therapy reveal the complexity of phenotype-genotype correlations in clear cell renal cell carcinoma. OBJECTIVES: Novel persona
1.92 KB
2016-01-17
4
3
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PubMed
19863441
Infection with Mycobacterium tuberculosis Beijing genotype strains is associated with polymorphisms in SLC11A1/NRAMP1 in Indonesian patients with tuberculosis. Differences in host immune genes may pre
914 Bytes
2015-11-25
5
3
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PubMed
23083294
Association of HLA locus variant in Parkinson's disease. A variant (rs3129882) in the genome-wide association study (GWAS)-linked variant [in the human leukocyte antigen (HLA) gene region] has been re
1009 Bytes
2025-10-02
7
5
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