Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
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
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
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
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
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
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
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
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		0.700 Biomarker disease CTD_human
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		0.700 GeneticVariation disease CLINVAR
CUI: C1855553
Disease: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Pyruvate Dehydrogenase E3-Binding Protein Deficiency 		0.700 CausalMutation disease CLINVAR
CUI: C0013421
Disease: Dystonia
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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0013421
Disease: Dystonia
Dystonia 		0.400 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group HPO
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		0.300 Biomarker phenotype CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.300 Biomarker disease CTD_human Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 21937992 2011
CUI: C0557874
Disease: Global developmental delay
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
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0235974
Disease: Pancreatic carcinoma
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
CUI: C0235974
Disease: Pancreatic carcinoma
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
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.100 Biomarker disease BEFREE A novel synthetic human insulin super promoter for targeting PDX-1-expressing pancreatic cancer. 29309817 2018
CUI: C0235974
Disease: Pancreatic carcinoma
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
CUI: C0346647
Disease: Malignant neoplasm of pancreas
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
CUI: C0346647
Disease: Malignant neoplasm of pancreas
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
CUI: C0346647
Disease: Malignant neoplasm of pancreas
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
CUI: C0346647
Disease: Malignant neoplasm of pancreas
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