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 BEFREE Glutamate formiminotransferase deficiency (FTCD deficiency) or formiminoglutamic aciduria is the second most common of the known inherited disorders of folate metabolism. 30740726 2019
CUI: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		0.730 CausalMutation disease CLINVAR In order to further understanding about the molecular alterations that contribute to FIGLU-uria, we sequenced FTCD in 20 individuals with putative FTCD deficiency and varying laboratory findings, including increased FIGLU excretion. 29178637 2017
CUI: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		0.730 GeneticVariation disease BEFREE Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria. 29178637 2017
CUI: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		0.730 Biomarker disease GENOMICS_ENGLAND In order to further understanding about the molecular alterations that contribute to FIGLU-uria, we sequenced FTCD in 20 individuals with putative FTCD deficiency and varying laboratory findings, including increased FIGLU excretion. 29178637 2017
CUI: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		0.730 CausalMutation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		0.730 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
CUI: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		0.730 CausalMutation disease CLINVAR Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 25689098 2015
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: C0268609
Disease: Glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency 		0.730 Biomarker disease CTD_human
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0006413
Disease: Burkitt Lymphoma
Burkitt Lymphoma 		0.300 Biomarker disease CTD_human The genetic landscape of mutations in Burkitt lymphoma. 23143597 2012
CUI: C0343640
Disease: African Burkitt's lymphoma
African Burkitt's lymphoma 		0.300 Biomarker disease CTD_human The genetic landscape of mutations in Burkitt lymphoma. 23143597 2012
CUI: C4721444
Disease: Burkitt Leukemia
Burkitt Leukemia 		0.300 Biomarker disease CTD_human The genetic landscape of mutations in Burkitt lymphoma. 23143597 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.100 GeneticVariation disease GWASCAT Assessment of Novel Genome-Wide Significant Gene Loci and Lesion Growth in Geographic Atrophy Secondary to Age-Related Macular Degeneration. 31120506 2019
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