Intellectual Disability
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
Hypersegmentation of neutrophil nuclei
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Positive ferric chloride test
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Liver Cirrhosis, Experimental
|
0.300 |
Biomarker
|
disease |
CTD_human |
Systems level analysis and identification of pathways and networks associated with liver fibrosis.
|
25380136 |
2014 |
Burkitt Lymphoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
The genetic landscape of mutations in Burkitt lymphoma.
|
23143597 |
2012 |
African Burkitt's lymphoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
The genetic landscape of mutations in Burkitt lymphoma.
|
23143597 |
2012 |
Burkitt Leukemia
|
0.300 |
Biomarker
|
disease |
CTD_human |
The genetic landscape of mutations in Burkitt lymphoma.
|
23143597 |
2012 |
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 |
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 |
Glutamate formiminotransferase deficiency
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.
|
29178637 |
2017 |
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 |
Glutamate formiminotransferase deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Glutamate formiminotransferase deficiency
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Glutamate formiminotransferase deficiency
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
|
25689098 |
2015 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Glutamate formiminotransferase deficiency
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|