Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.020 GeneticVariation disease BEFREE <b>Objectives:</b> The present study is geared to learning about the patterns of tau seeding and cells involved following unilateral inoculation in the corpus callosum of homogenates from sporadic Alzheimer's disease (AD), primary age-related tauopathy (PART: neuronal 4Rtau and 3Rtau), pure aging-related tau astrogliopathy (ARTAG: astroglial 4Rtau with thorn-shaped astrocytes TSAs), globular glial tauopathy (GGT: 4Rtau with neuronal tau and specific tau inclusions in astrocytes and oligodendrocytes, GAIs and GOIs, respectively), progressive supranuclear palsy (PSP: 4Rtau with neuronal inclusions, tufted astrocytes and coiled bodies), Pick's disease (PiD: 3Rtau with characteristic Pick bodies in neurons and tau containing fibrillar astrocytes), and frontotemporal lobar degeneration linked to P301L mutation (FTLD-P301L: 4Rtau familial tauopathy). 31191295 2019
CUI: C0949664
Disease: Tauopathies
Tauopathies
0.020 GeneticVariation group BEFREE <b>Objectives:</b> The present study is geared to learning about the patterns of tau seeding and cells involved following unilateral inoculation in the corpus callosum of homogenates from sporadic Alzheimer's disease (AD), primary age-related tauopathy (PART: neuronal 4Rtau and 3Rtau), pure aging-related tau astrogliopathy (ARTAG: astroglial 4Rtau with thorn-shaped astrocytes TSAs), globular glial tauopathy (GGT: 4Rtau with neuronal tau and specific tau inclusions in astrocytes and oligodendrocytes, GAIs and GOIs, respectively), progressive supranuclear palsy (PSP: 4Rtau with neuronal inclusions, tufted astrocytes and coiled bodies), Pick's disease (PiD: 3Rtau with characteristic Pick bodies in neurons and tau containing fibrillar astrocytes), and frontotemporal lobar degeneration linked to P301L mutation (FTLD-P301L: 4Rtau familial tauopathy). 31191295 2019
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy
0.010 GeneticVariation disease BEFREE <b>Objectives:</b> The present study is geared to learning about the patterns of tau seeding and cells involved following unilateral inoculation in the corpus callosum of homogenates from sporadic Alzheimer's disease (AD), primary age-related tauopathy (PART: neuronal 4Rtau and 3Rtau), pure aging-related tau astrogliopathy (ARTAG: astroglial 4Rtau with thorn-shaped astrocytes TSAs), globular glial tauopathy (GGT: 4Rtau with neuronal tau and specific tau inclusions in astrocytes and oligodendrocytes, GAIs and GOIs, respectively), progressive supranuclear palsy (PSP: 4Rtau with neuronal inclusions, tufted astrocytes and coiled bodies), Pick's disease (PiD: 3Rtau with characteristic Pick bodies in neurons and tau containing fibrillar astrocytes), and frontotemporal lobar degeneration linked to P301L mutation (FTLD-P301L: 4Rtau familial tauopathy). 31191295 2019
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain
0.010 GeneticVariation disease BEFREE <b>Objectives:</b> The present study is geared to learning about the patterns of tau seeding and cells involved following unilateral inoculation in the corpus callosum of homogenates from sporadic Alzheimer's disease (AD), primary age-related tauopathy (PART: neuronal 4Rtau and 3Rtau), pure aging-related tau astrogliopathy (ARTAG: astroglial 4Rtau with thorn-shaped astrocytes TSAs), globular glial tauopathy (GGT: 4Rtau with neuronal tau and specific tau inclusions in astrocytes and oligodendrocytes, GAIs and GOIs, respectively), progressive supranuclear palsy (PSP: 4Rtau with neuronal inclusions, tufted astrocytes and coiled bodies), Pick's disease (PiD: 3Rtau with characteristic Pick bodies in neurons and tau containing fibrillar astrocytes), and frontotemporal lobar degeneration linked to P301L mutation (FTLD-P301L: 4Rtau familial tauopathy). 31191295 2019
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
0.010 GeneticVariation disease BEFREE <b>Objectives:</b> The present study is geared to learning about the patterns of tau seeding and cells involved following unilateral inoculation in the corpus callosum of homogenates from sporadic Alzheimer's disease (AD), primary age-related tauopathy (PART: neuronal 4Rtau and 3Rtau), pure aging-related tau astrogliopathy (ARTAG: astroglial 4Rtau with thorn-shaped astrocytes TSAs), globular glial tauopathy (GGT: 4Rtau with neuronal tau and specific tau inclusions in astrocytes and oligodendrocytes, GAIs and GOIs, respectively), progressive supranuclear palsy (PSP: 4Rtau with neuronal inclusions, tufted astrocytes and coiled bodies), Pick's disease (PiD: 3Rtau with characteristic Pick bodies in neurons and tau containing fibrillar astrocytes), and frontotemporal lobar degeneration linked to P301L mutation (FTLD-P301L: 4Rtau familial tauopathy). 31191295 2019
CUI: C3811918
Disease: GRN-related frontotemporal dementia
GRN-related frontotemporal dementia
0.010 GeneticVariation disease BEFREE <b>Objectives:</b> The present study is geared to learning about the patterns of tau seeding and cells involved following unilateral inoculation in the corpus callosum of homogenates from sporadic Alzheimer's disease (AD), primary age-related tauopathy (PART: neuronal 4Rtau and 3Rtau), pure aging-related tau astrogliopathy (ARTAG: astroglial 4Rtau with thorn-shaped astrocytes TSAs), globular glial tauopathy (GGT: 4Rtau with neuronal tau and specific tau inclusions in astrocytes and oligodendrocytes, GAIs and GOIs, respectively), progressive supranuclear palsy (PSP: 4Rtau with neuronal inclusions, tufted astrocytes and coiled bodies), Pick's disease (PiD: 3Rtau with characteristic Pick bodies in neurons and tau containing fibrillar astrocytes), and frontotemporal lobar degeneration linked to P301L mutation (FTLD-P301L: 4Rtau familial tauopathy). 31191295 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.090 Biomarker disease BEFREE <b>Results</b>: Combined ALBI and GGT was highly associated with OS (<i>P</i><0.001) and DFS (<i>P</i><0.001) of HCC patients treated with hepatic resection. 31598154 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
0.100 Biomarker disease BEFREE 50 type 2 Egyptian diabetic patients controlled on oral hypoglycemic drugs together with 20 age- and sex-matched healthy participants were enrolled in the study; all were subjected to complete history taking, BMI, fasting plasma glucose, HOMA-IR, ALT, AST, GGT, urea and creatinine, total lipid profile, hepatitis markers including hepatitis B surface antigen and hepatitis C virus antibodies, conjugated linoleic fatty acid "CLA," and abdominal ultrasound for grading of NAFLD. 31089474 2019
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.020 Biomarker disease BEFREE 50 type 2 Egyptian diabetic patients controlled on oral hypoglycemic drugs together with 20 age- and sex-matched healthy participants were enrolled in the study; all were subjected to complete history taking, BMI, fasting plasma glucose, HOMA-IR, ALT, AST, GGT, urea and creatinine, total lipid profile, hepatitis markers including hepatitis B surface antigen and hepatitis C virus antibodies, conjugated linoleic fatty acid "CLA," and abdominal ultrasound for grading of NAFLD. 31089474 2019
CUI: C0004565
Disease: Melanoma, B16
Melanoma, B16
0.010 GeneticVariation disease BEFREE B16 melanoma (B16M) cells with high glutathione (GSH) content show rapid proliferation in vitro and high metastatic activity in the liver in vivo. gamma-Glutamyl transpeptidase (GGT)-mediated extracellular GSH cleavage and intracellular GSH synthesis were studied in vitro in B16M cells with high (F10) and low (F1) metastatic potential. 11786961 2002
Benign recurrent intrahepatic cholestasis
0.010 Biomarker disease BEFREE Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. 11867191 2002
CUI: C0085280
Disease: Alagille Syndrome
Alagille Syndrome
0.010 GeneticVariation disease BEFREE Alagille syndrome (AGS) frequently presents with neonatal jaundice and can mimic other causes of high gamma-glutamyl transpeptidase (GGT) cholestasis, most notably biliary atresia. 20601899 2010
CUI: C0008370
Disease: Cholestasis
Cholestasis
0.080 Biomarker disease BEFREE Cholestasis with normal GGT developed 17 and 4.8years after liver transplantation, in patient 1 and patient 2, respectively, during an immunosuppression reduction period. 20800306 2010
Arthrogryposis, renal dysfunction, and cholestasis 1
0.020 AlteredExpression disease BEFREE Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney. 30093463 2018
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.010 GeneticVariation phenotype BEFREE Thrombocytopenia (≤100,000/mm<sup>3</sup>; p:0.03) and high levels of gamma-glutamyl transpeptidase (GGT) (≥151 IU/L; p:0.02) signaled severity. 31473566 2019
CUI: C4289709
Disease: DOCK8 Deficiency
DOCK8 Deficiency
0.010 AlteredExpression disease BEFREE A 5 year-old girl with DOCK8 deficiency presented with mild direct hyperbilirubinemia and abnormal GGT level and without a previous history of jaundice. 31297914 2019
CUI: C0022346
Disease: Icterus
Icterus
0.010 AlteredExpression phenotype BEFREE A 5 year-old girl with DOCK8 deficiency presented with mild direct hyperbilirubinemia and abnormal GGT level and without a previous history of jaundice. 31297914 2019
CUI: C0028754
Disease: Obesity
Obesity
0.030 Biomarker disease BEFREE A correlation analysis between change of actual IHL content and change of single elements of the liver fat indices revealed diet-specific moderate to strong correlations between ΔIHL and changes of measures of obesity, ΔTG, and ΔALT (all low-fat, only) and between ΔIHL and ΔGGT (low-carb, only). 29385034 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: 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: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma
0.010 GeneticVariation disease BEFREE A KRAS codon 12 mutation, the GGT → GTT transversion, corresponding to the Gly → Val amino acid change was identified in the absence of other genetic alterations commonly found in PTC. 22682753 2012
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.070 Biomarker disease BEFREE A significant correlation was found between the IFNL3 polymorphisms and biochemical as well as virologic predictors of treatment outcome such as ALT, GGT, cholesterol, and HCV RNA levels. 24204859 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE A summary of its expression in neoplastic tissues and the ways in which GGT effects the response of tumors to chemotherapy follows. 9679564 1998
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
0.020 GeneticVariation disease BEFREE A total of 548 patients with chronic HBV infection (366 with chronic hepatitis B and 182 inactive carriers) were followed for 15 years and 9 months with an annual measurement of HBV-DNA, ALT, AST and GGT (average of 4 annual determinations) and serology (HBsAg, HBeAg, Anti-HBeAg and Anti-HBsAg). 25332262 2015