Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE The original primary tumor and two metastatic lymph nodes were previously found to have 50-fold amplification of c-myc and also 3- to 6-fold amplification of activated c-Ki-ras with a point mutation from GGT to CGT at codon 12. 3778442 1986
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 GeneticVariation disease BEFREE c-K-ras codon 12 GGT-CGT point mutation. An infrequent event in human lung cancer. 2877663 1986
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.020 GeneticVariation disease BEFREE c-K-ras codon 12 GGT-CGT point mutation. An infrequent event in human lung cancer. 2877663 1986
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.020 GeneticVariation disease BEFREE c-K-ras codon 12 GGT-CGT point mutation. An infrequent event in human lung cancer. 2877663 1986
CUI: C0861727
Disease: Pancreatic adenocarcinoma metastatic
Pancreatic adenocarcinoma metastatic 		0.010 GeneticVariation disease BEFREE Activated c-Ki-ras with a point mutation (GGT to CGT) at codon 12, resulting in the substitution of arginine for glycine, was found in DNA from metastatic pancreatic adenocarcinoma in a lymph node. 3009377 1986
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 GeneticVariation disease BEFREE Using synthetic oligonucleotide probes we detected mutations in 5 cases of ANLL; 4 GGT----GAT transitions in codon 12 and one CAA----AAA transversion in codon 61. 3275590 1988
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.090 AlteredExpression disease BEFREE None of three human hepatocellular carcinomas examined showed a marked elevation in GGT mRNA levels relative to surrounding liver tissue. 2568315 1989
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.020 AlteredExpression group BEFREE In both species, the GGT mRNA is longer in hepatoma than in kidney. 2568315 1989
CUI: C1512409
Disease: Hepatocarcinogenesis
Hepatocarcinogenesis 		0.010 Biomarker disease BEFREE gamma-Glutamyl transpeptidase (GGT) is a glutathione-metabolizing enzyme that has been extensively studied in relation to hepatocarcinogenesis. 2568315 1989
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.010 AlteredExpression group BEFREE It is concluded that increased trehalase activity has diagnostic importance in detecting fetal kidney diseases, and radial-renal syndrome (with elevated GGT activity), while low enzyme activities may indicate chromosomal aberrations (with no signs of intestinal obstruction). 1980862 1990
CUI: C0021843
Disease: Intestinal Obstruction
Intestinal Obstruction 		0.010 AlteredExpression disease BEFREE It is concluded that increased trehalase activity has diagnostic importance in detecting fetal kidney diseases, and radial-renal syndrome (with elevated GGT activity), while low enzyme activities may indicate chromosomal aberrations (with no signs of intestinal obstruction). 1980862 1990
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.010 GeneticVariation disease BEFREE K-ras sequences with a GGT----GAT mutation in codon 12 were demonstrated in both transformants derived from endometrial carcinoma. 2205377 1990
CUI: C1867396
Disease: RADIAL-RENAL SYNDROME
RADIAL-RENAL SYNDROME 		0.010 AlteredExpression disease BEFREE It is concluded that increased trehalase activity has diagnostic importance in detecting fetal kidney diseases, and radial-renal syndrome (with elevated GGT activity), while low enzyme activities may indicate chromosomal aberrations (with no signs of intestinal obstruction). 1980862 1990
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		0.010 GeneticVariation disease BEFREE The results indicated that all three NIH 3T3 transformants, 11 of 24 (46%) SCCs, and 5 of 16 (31%) BCCs contained mutations at the second position of Ha-ras codon 12 (GGC----GTC), predicting a glycine-to-valine amino acid substitution, whereas only 1 of 40 skin cancers (an SCC) displayed a mutation in the first position of Ki-ras codon 12 (GGT----AGT), predicting a glycine-to-serine amino acid change. 2064725 1991
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		0.010 GeneticVariation disease BEFREE The results indicated that all three NIH 3T3 transformants, 11 of 24 (46%) SCCs, and 5 of 16 (31%) BCCs contained mutations at the second position of Ha-ras codon 12 (GGC----GTC), predicting a glycine-to-valine amino acid substitution, whereas only 1 of 40 skin cancers (an SCC) displayed a mutation in the first position of Ki-ras codon 12 (GGT----AGT), predicting a glycine-to-serine amino acid change. 2064725 1991
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		0.010 GeneticVariation disease BEFREE In these studies an activated K-ras gene that contained a mutation at the second position of codon 12 (GGT----GAT) was found in a leiomyosarcoma. 1923531 1991
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma 		0.010 GeneticVariation disease BEFREE In these studies an activated K-ras gene that contained a mutation at the second position of codon 12 (GGT----GAT) was found in a leiomyosarcoma. 1923531 1991
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma 		0.010 GeneticVariation disease BEFREE In these studies an activated K-ras gene that contained a mutation at the second position of codon 12 (GGT----GAT) was found in a leiomyosarcoma. 1923531 1991
CUI: C1135868
Disease: Gestational Trophoblastic Neoplasms
Gestational Trophoblastic Neoplasms 		0.010 GeneticVariation group BEFREE In 4 of these positive cases, the transition was GGT----GAT (Gly----Asp) with the remaining one, found in a cancer, being GGT----GTT (Gly----Val). 1955373 1991
CUI: C0036631
Disease: Seminoma
Seminoma 		0.010 GeneticVariation disease BEFREE One seminoma [1/18(5.6%)] contained the mutation GGT(GLY)----CGT(ARG), and three NSGCT [3/25(12%)] were found to have GGT(GLY)----GAT(ASP) mutations. 1381946 1992
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE First, we found that the overall prevalence of mutations within codons 12 and 13 of the K-ras gene was 25% in the nonrecurring group vs. 71% in the patients with recurrent disease (P < 0.0001) and, second, that mutations other than GGT to GAT occurred, with one exception, exclusively in recurring tumors. 8462792 1993
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 Biomarker phenotype BEFREE These results suggest that ras activation, especially in N-ras codon 12.1 (GGT-->AGT) and HPV infection are 2 important factors in (multistage) laryngeal carcinogenesis. 8380055 1993
CUI: C0028259
Disease: Nodule
Nodule 		0.020 Biomarker phenotype BEFREE A heterozygous mutation of codon 201 of Gs alpha (GGT [Arg]-CAT [His]) was observed in a nodule from an adenomatous goiter. 8501149 1993
CUI: C0311361
Disease: Adenomatous goiter
Adenomatous goiter 		0.010 Biomarker disease BEFREE A heterozygous mutation of codon 201 of Gs alpha (GGT [Arg]-CAT [His]) was observed in a nodule from an adenomatous goiter. 8501149 1993
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		0.010 GeneticVariation disease BEFREE These results suggest that ras activation, especially in N-ras codon 12.1 (GGT-->AGT) and HPV infection are 2 important factors in (multistage) laryngeal carcinogenesis. 8380055 1993