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DisGeNET5_variant_disease
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PubMed
16644711
A functional Tyr1306Cys variant in LARG is associated with increased insulin action in vivo. Diminished insulin sensitivity is a characteristic feature of type 2 diabetes. Inhibition of insulin action
1.43 KB
2015-11-19
5
3
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PubMed
16252083
Polymorphisms of the DNA mismatch repair gene HMSH2 in breast cancer occurence and progression. The response of the cell to DNA damage and its ability to maintain genomic stability by DNA repair are c
1.62 KB
2015-11-19
28
21
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PubMed
16051693
Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD). Phosphatidylethanolamine N-methyltransferase (PEMT) catalyzes phosphatidylcholine synthesis. PEMT knockout
1004 Bytes
2015-11-19
44
3
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PubMed
15983230
Polymorphisms in the SLC2A2 (GLUT2) gene are associated with the conversion from impaired glucose tolerance to type 2 diabetes: the Finnish Diabetes Prevention Study. Impaired insulin secretion is a f
1.14 KB
2025-10-02
29
3
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PubMed
15867855
Genetic variants of the T-cell immunoglobulin mucin 1 but not the T-cell immunoglobulin mucin 3 gene are associated with asthma in an African American population. BACKGROUND: The T-cell immunoglobulin
1.71 KB
2025-10-02
46
3
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PubMed
15824163
No Evidence for BRAF as a melanoma/nevus susceptibility gene. Somatic mutations of BRAF have been identified in both melanoma tumors and benign nevi. Germ line mutations in BRAF have not been identifi
1.75 KB
2025-10-02
14
3
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PubMed
15749661
Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis. BACKGROUND AND OBJECTIVES: The low prevalence of the C282Y mutation of the HFE gene
1.64 KB
2015-11-19
28
19
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PubMed
15668505
Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers. The HH genotype of the nonconservative amino acid substitution polymorphism N372H in the BRCA2 gene
1.55 KB
2015-11-18
27
5
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PubMed
15485686
A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia. OBJECTIVE: Congenital long QT syndrome (LQTS) with in utero onset of the rhyth
1.77 KB
2015-11-19
34
7
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PubMed
15304120
Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. BAC
2.19 KB
2015-11-22
4
8
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