Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.100 GeneticVariation phenotype GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease GWASCAT Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms. 25574825 2015
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris
0.100 GeneticVariation disease GWASCAT Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture. 26626624 2015
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease GWASCAT Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. 23143594 2012
CUI: C0033860
Disease: Psoriasis
Psoriasis
0.100 GeneticVariation disease GWASDB Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. 23143594 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 GeneticVariation group BEFREE In the particular case of benzo[a]pyrene induction of K-Ras codon 12 TGT mutation in the A/J mouse lung, measurement of tumor-associated oncomutation was shown to be an earlier and more sensitive endpoint than tumor response. 20740637 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 Biomarker group BEFREE Sequence analysis of tumor DNA revealed that GGT (Gly) was replaced by GAT (Asp; 35%), GTT (Val; 32%), AGT (Ser; 13%), GCT (Ala; 10%), TGT (Cys; 8%), and CGT (Arg; 2%) for codon 12, and by GAC (Asp) as the only type of mutation for codon 13. 14760087 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.030 GeneticVariation group BEFREE Eight cases had mutations concurrently in different areas of the same tumor and in all of these the mutation was homogeneous (6 cases to GAT, 1 case to TGT and 1 case to GTT). 8514605 1993
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.020 Biomarker disease BEFREE For this reason and because of the recent finding that mammalian TGT may be utilized for the treatment of multiple sclerosis, this enzyme is of potential medical relevance, rendering detailed knowledge of its biochemistry and structural architecture highly desirable. 29862811 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.020 Biomarker disease BEFREE The data suggest that exploitation of the eukaryotic TGT enzyme is a promising approach for the treatment of multiple sclerosis. 28204548 2017
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
0.010 GeneticVariation disease BEFREE Haplotype analysis showed that TGC and TGT haplotypes were associated with decreased risk of IS (OR = 0.59, 95% CI: 0.40~0.87, P = 0.007 for TGC haplotype; OR = 0.21, 95% CI: 0.06~0.75, P = 0.009 for TGT haplotype). 31703587 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 Biomarker disease BEFREE The haplotype CAC may be a protective factor against breast cancer, and CGT, TAC, and TGT may be risk factors for breast cancer. 29748526 2018
CUI: C0472803
Disease: Hypodysfibrinogenemia
Hypodysfibrinogenemia
0.010 GeneticVariation disease BEFREE Hypodysfibrinogenemia with a Heterozygous Mutation of γCys326Ser by the Novel Transversion of TGT to TCT in a Patient with Pulmonary Thromboembolism and Right Ventricular Thrombus. 28419986 2018
CUI: C0524702
Disease: Pulmonary Thromboembolisms
Pulmonary Thromboembolisms
0.010 Biomarker disease BEFREE Hypodysfibrinogenemia with a Heterozygous Mutation of γCys326Ser by the Novel Transversion of TGT to TCT in a Patient with Pulmonary Thromboembolism and Right Ventricular Thrombus. 28419986 2018
CUI: C0587043
Disease: Right ventricular thrombus
Right ventricular thrombus
0.010 Biomarker disease BEFREE Hypodysfibrinogenemia with a Heterozygous Mutation of γCys326Ser by the Novel Transversion of TGT to TCT in a Patient with Pulmonary Thromboembolism and Right Ventricular Thrombus. 28419986 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 Biomarker disease BEFREE The haplotype CAC may be a protective factor against breast cancer, and CGT, TAC, and TGT may be risk factors for breast cancer. 29748526 2018
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
0.010 GeneticVariation disease BEFREE A haplotype analysis found that the GGT and TGT haplotypes had significantly different distributions between ET and controls (p = 0.041 and 0.041, respectively). 27990849 2017
CUI: C0013371
Disease: Shigella Infections
Shigella Infections
0.010 Biomarker group BEFREE A null mutation in the tgt gene encoding the tRNA-modifying enzyme tRNA-guanine transglycosylase (Tgt) was found to drastically decrease the pathogenicity of Shigella bacteria, suggesting the use of Tgt as putative target for selective antibiotics. 25951081 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation disease BEFREE In NSCLC GLY12Cys mutations, resulting from a codon 12 GGT>TGT substitution, were observed in 44% compared to 10% for CRC. 24331409 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 AlteredExpression disease BEFREE In accordance, haplotypic analysis of the three polymorphisms also showed that the haplotype block CGC* and TGC* were significantly associated with HBsAg seroclearance (P<0.05) while haplotype block CAT*, CGT*, TAC* and TGT* were significantly associated with HBV-associated HCC (all P<0.05). 24867713 2014
CUI: C0036572
Disease: Seizures
Seizures
0.010 GeneticVariation phenotype BEFREE Further, low protein-expressing CGT and TGT (c.-24C>T, c.1249G>A, c.3972C>T) haplotypes were always observed to be present in combination with the AG (c.-1549G>A, c.-1019A>G) haplotype that was over-represented in women with 'no seizures'. 22565165 2012
CUI: C0262587
Disease: Parathyroid Adenoma
Parathyroid Adenoma
0.010 GeneticVariation disease BEFREE The mutation S33C (TCT>TGT) was detected by direct-DNA sequencing of PCR fragments in 1 out of 180 sporadic parathyroid adenomas (0.68 %). 22576020 2012
CUI: C0026948
Disease: Mycosis Fungoides
Mycosis Fungoides
0.010 Biomarker group BEFREE The 5 and 50 mg/kg dose groups had TGT MFs significantly higher than did controls. 19658153 2010
CUI: C0752355
Disease: Myotonia Fluctuans (disorder)
Myotonia Fluctuans (disorder)
0.010 Biomarker disease BEFREE The 5 and 50 mg/kg dose groups had TGT MFs significantly higher than did controls. 19658153 2010