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DisGeNET5_variant_disease
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updated_at
PubMed
21305503
Association of HTR2A polymorphisms with chronic widespread pain and the extent of musculoskeletal pain: results from two population-based cohorts. OBJECTIVE: The aim of the current study was to invest
1.88 KB
2025-10-02
9
6
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PubMed
22977134
Single nucleotide polymorphism in the cholesterol-24S-hydroxylase (CYP46A1) gene and its association with CFH and LOC387715 gene polymorphisms in age-related macular degeneration. PURPOSE: We investig
1.88 KB
2025-10-02
9
8
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PubMed
25293778
BCR-ABL1 promotes leukemia by converting p27 into a cytoplasmic oncoprotein. Recent studies have revealed that p27, a nuclear cyclin-dependent kinase (Cdk) inhibitor and tumor suppressor, can acquire
1.57 KB
2015-11-26
6
5
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PubMed
21527513
Influence of physical inactivity on associations between single nucleotide polymorphisms and genetic predisposition to childhood obesity. Childhood obesity is a complex disease that is influenced by b
1.69 KB
2025-10-02
9
11
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PubMed
26418953
Molecular inimitability amongst tumors: implications for precision cancer medicine in the age of personalized oncology. Tumor sequencing has revolutionized oncology, allowing for detailed interrogatio
1.46 KB
2015-10-01
6
71
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PubMed
10086344
Mutations of c-kit JM domain are found in a minority of human gastrointestinal stromal tumors. The c-kit gene encodes a transmembrane receptor kinase (KIT) which is expressed in the majority of human
1.77 KB
2015-10-29
6
14
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PubMed
10362788
Activating c-kit gene mutations in human germ cell tumors. The c-kit gene encodes a tyrosine kinase receptor (KIT) that is required in normal spermatogenesis and is expressed in seminomas and dysgermi
1.17 KB
2015-10-29
7
5
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PubMed
10465111
Mutational analysis of the N-ras, p53, p16INK4a, CDK4, and MC1R genes in human congenital melanocytic naevi. Eighteen human congenital melanocytic naevi (CMN) from 17 patients were screened for activa
1.1 KB
2015-10-29
6
20
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PubMed
10734314
Somatic mutations of the MET oncogene are selected during metastatic spread of human HNSC carcinomas. A metastatic cancer develops by accumulation of mutations in genes that control growth, survival a
1.29 KB
2015-10-29
6
3
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PubMed
11314002
Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma. 4p16.3 has previously been identified as a region of non-random LOH in transitional cell carcinoma, suggesting th
1.54 KB
2015-10-29
5
5
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