Pyruvate Dehydrogenase E3-Binding Protein Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
|
25087164 |
2015 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
|
25087164 |
2015 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
|
12557299 |
2003 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.
|
9399911 |
1997 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Dystonia
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children.
|
25087164 |
2015 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
Dystonia
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
|
|
|
Dystonia
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
Intellectual Disability
|
0.400 |
Biomarker
|
group |
HPO |
|
|
|
Profound Mental Retardation
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
Mental Retardation, Psychosocial
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
Mental deficiency
|
0.300 |
Biomarker
|
disease |
CTD_human |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
|
21937992 |
2011 |
Global developmental delay
|
0.110 |
Biomarker
|
disease |
BEFREE |
Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.
|
15303005 |
2004 |
Global developmental delay
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Pancreatic carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Experiments were performed in a genetically engineered mouse model of pancreatic cancer (KPC mice: LSL-Kras<sup>G12D/+</sup>; LSL-Trp53<sup>R172H/+</sup>; Pdx-1-Cre).
|
28715967 |
2018 |
Pancreatic carcinoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
K-ras<sup>LSL-G12D/+</sup>:: p53<sup>LSL-R172H/+</sup>:: Pdx-1-Cre (KPC) mice are an established model of pancreatic cancer that specifically express mutants of both K-ras and p53 in the pancreas by using Pdx-1-Cre.
|
28971839 |
2018 |
Pancreatic carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
A novel synthetic human insulin super promoter for targeting PDX-1-expressing pancreatic cancer.
|
29309817 |
2018 |
Pancreatic carcinoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The LSL-Kras<sup>G12D/+</sup>; LSL-Trp53<sup>R172H/+</sup>; Pdx-1-Cre (KPC) mouse model represents an established and frequently used transgenic model to evaluate novel therapies in pancreatic cancer.
|
29683461 |
2018 |
Malignant neoplasm of pancreas
|
0.100 |
Biomarker
|
disease |
BEFREE |
A novel synthetic human insulin super promoter for targeting PDX-1-expressing pancreatic cancer.
|
29309817 |
2018 |
Malignant neoplasm of pancreas
|
0.100 |
Biomarker
|
disease |
BEFREE |
Experiments were performed in a genetically engineered mouse model of pancreatic cancer (KPC mice: LSL-Kras<sup>G12D/+</sup>; LSL-Trp53<sup>R172H/+</sup>; Pdx-1-Cre).
|
28715967 |
2018 |
Malignant neoplasm of pancreas
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
K-ras<sup>LSL-G12D/+</sup>:: p53<sup>LSL-R172H/+</sup>:: Pdx-1-Cre (KPC) mice are an established model of pancreatic cancer that specifically express mutants of both K-ras and p53 in the pancreas by using Pdx-1-Cre.
|
28971839 |
2018 |
Malignant neoplasm of pancreas
|
0.100 |
Biomarker
|
disease |
BEFREE |
The LSL-Kras<sup>G12D/+</sup>; LSL-Trp53<sup>R172H/+</sup>; Pdx-1-Cre (KPC) mouse model represents an established and frequently used transgenic model to evaluate novel therapies in pancreatic cancer.
|
29683461 |
2018 |