Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		0.730 Biomarker disease CTD_human
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		0.100 Biomarker disease HPO
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		0.100 Biomarker disease HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4025288
Disease: Hypersegmentation of neutrophil nuclei
Hypersegmentation of neutrophil nuclei 		0.100 Biomarker disease HPO
CUI: C4025589
Disease: Positive ferric chloride test
Positive ferric chloride test 		0.100 Biomarker phenotype HPO
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		0.040 Biomarker disease BEFREE Formiminotransferase cyclodeaminase is an organ-specific autoantigen recognized by sera of patients with autoimmune hepatitis. 10029623 1999
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		0.040 Biomarker disease BEFREE Formiminotransferase cyclodeaminase is an organ-specific autoantigen recognized by sera of patients with autoimmune hepatitis. 10029623 1999
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		0.040 Biomarker disease BEFREE The aim of this study was to identify the dominant epitope on human FTCD and to analyze antigenic-site sequences for clues on the development of AIH. 12811847 2003
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		0.040 Biomarker disease BEFREE The aim of this study was to identify the dominant epitope on human FTCD and to analyze antigenic-site sequences for clues on the development of AIH. 12811847 2003
CUI: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		0.730 GermlineCausalMutation disease ORPHANET These mutations are the first identified in glutamate formiminotransferase deficiency and demonstrate that mutations in FTCD represent the molecular basis for the mild phenotype of this disease. 12815595 2003
CUI: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		0.730 GeneticVariation disease CLINVAR These mutations are the first identified in glutamate formiminotransferase deficiency and demonstrate that mutations in FTCD represent the molecular basis for the mild phenotype of this disease. 12815595 2003
CUI: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		0.730 Biomarker disease GENOMICS_ENGLAND These mutations are the first identified in glutamate formiminotransferase deficiency and demonstrate that mutations in FTCD represent the molecular basis for the mild phenotype of this disease. 12815595 2003
CUI: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		0.730 GeneticVariation disease UNIPROT These mutations are the first identified in glutamate formiminotransferase deficiency and demonstrate that mutations in FTCD represent the molecular basis for the mild phenotype of this disease. 12815595 2003
CUI: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		0.730 GeneticVariation disease BEFREE These mutations are the first identified in glutamate formiminotransferase deficiency and demonstrate that mutations in FTCD represent the molecular basis for the mild phenotype of this disease. 12815595 2003
CUI: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		0.730 Biomarker disease GENOMICS_ENGLAND These mutations are the first identified in glutamate formiminotransferase deficiency and demonstrate that mutations in FTCD represent the molecular basis for the mild phenotype of this disease. 12815595 2003
CUI: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		0.730 CausalMutation disease CLINVAR These mutations are the first identified in glutamate formiminotransferase deficiency and demonstrate that mutations in FTCD represent the molecular basis for the mild phenotype of this disease. 12815595 2003
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		0.040 Biomarker disease BEFREE The current study shows that a murine model of AIH can be generated by DNA immunization against type 2 AIH self-antigens (P450 2D6 and formiminotransferase-cyclodeaminase). 15057911 2004
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		0.040 Biomarker disease BEFREE The current study shows that a murine model of AIH can be generated by DNA immunization against type 2 AIH self-antigens (P450 2D6 and formiminotransferase-cyclodeaminase). 15057911 2004
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.040 AlteredExpression disease BEFREE Two gene products, glyceraldehyde-3-phosphate dehydrogenase and formimidoyltransferase-cyclodeaminase, were identified from inversely altered spots, suggesting that different isoforms or post-translational modifications of these two proteins might play different roles in HCC. 17627933 2007
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.040 Biomarker disease BEFREE The sensitivity and specificity of individual markers or a combination for the detection of HCC were 51.8% and 95.6% for CHC, 61.4% and 98.5% for FTCD, and 80.7% and 94.1% for CHC+FTCD, respectively. 18571811 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 AlteredExpression group BEFREE Interestingly, CHC and FTCD expression was strikingly different between tumor and nontumor tissues. 18571811 2008
CUI: C0028259
Disease: Nodule
Nodule 		0.010 Biomarker phenotype BEFREE Moreover, CHC and FTCD were useful to distinguish early HCC from benign tumors such as regenerative nodule or focal nodular hyperplasia, because the sensitivity and specificity of the markers are 41.2% and 77.8% for CHC, 44.4% and 80.0% for FTCD, which is comparable with those of glypican-3 (33.3% and 100%). 18571811 2008
CUI: C0333980
Disease: Focal Nodular Hyperplasia
Focal Nodular Hyperplasia 		0.010 Biomarker disease BEFREE Moreover, CHC and FTCD were useful to distinguish early HCC from benign tumors such as regenerative nodule or focal nodular hyperplasia, because the sensitivity and specificity of the markers are 41.2% and 77.8% for CHC, 44.4% and 80.0% for FTCD, which is comparable with those of glypican-3 (33.3% and 100%). 18571811 2008