Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 183
Gene Symbol: AGT
AGT
0.010 GeneticVariation disease BEFREE The frequency of the AGT MM M235T variant was significantly higher in IVA patients (29.9%) than in controls (17%, p = 0.02). 20413984 2010
Entrez Id: 4512
Gene Symbol: COX1
COX1
0.010 AlteredExpression disease BEFREE The expression levels of related mRNA of PLA2G4A and cyclooxygenase-2 (COX-2) and the expression levels of mPGES, COX-1, and COX-2 protein in the control group were significantly higher than those in the AACOCF3 group. 30328712 2018
Entrez Id: 4513
Gene Symbol: COX2
COX2
0.010 Biomarker disease BEFREE Interestingly, an overall reduction in one of the mitochondrial-encoded subunits of the complex IV, COII, accentuated a possible defect in mitochondrial translation machinery in two of the stage IVA tumors. 26238294 2015
Entrez Id: 115908
Gene Symbol: CTHRC1
CTHRC1
0.010 AlteredExpression disease BEFREE The CTHRC1 levels in the sera from the IVA patients and healthy individuals were measured using an enzyme-linked immunosorbent assay (ELISA), and the differences were statistically analysed. 27718266 2016
Entrez Id: 10672
Gene Symbol: GNA13
GNA13
0.010 Biomarker disease BEFREE Our findings highlight the important role of miR-29c in regulating CRC EMT via GSK-3β/β-catenin signaling by targeting GNA13 and PTP4A and provide new insights into the metastatic basis of CRC. 25193986 2014
Entrez Id: 2932
Gene Symbol: GSK3B
GSK3B
0.010 Biomarker disease BEFREE Our findings highlight the important role of miR-29c in regulating CRC EMT via GSK-3β/β-catenin signaling by targeting GNA13 and PTP4A and provide new insights into the metastatic basis of CRC. 25193986 2014
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 Biomarker disease GENOMICS_ENGLAND Previous studies of fibroblasts from patients with isovaleric acidemia (IVA), an inherited defect in IVD, have revealed that IVD precursor protein produced by type II IVA cells is 3 kDa smaller than normal and is processed inefficiently to a mature form which is also 3 kDa smaller than normal. 1310317 1992
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 Biomarker disease CLINGEN Chronic intermittent form of isovaleric aciduria in a 2-year-old boy. 24019846 2013
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 GeneticVariation disease CLINVAR Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene. 22960500 2012
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 GeneticVariation disease CLINVAR Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia. 27629047 2016
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 GeneticVariation disease CLINVAR Clinical diagnosis of IVA can be confirmed on mutation analysis of the IVD gene. 22004070 2011
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 GeneticVariation disease BEFREE Previous studies of fibroblasts from patients with isovaleric acidemia (IVA), an inherited defect in IVD, have revealed that IVD precursor protein produced by type II IVA cells is 3 kDa smaller than normal and is processed inefficiently to a mature form which is also 3 kDa smaller than normal. 1310317 1992
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 GeneticVariation disease BEFREE Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia. 23063737 2013
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 Biomarker disease BEFREE Because of its specific features and symptoms similar to human isovaleryl-CoA dehydrogenase (IVD) deficiency, also known as isovaleric acidaemia, IVD dysfunction in silkworms was predicted to be responsible for the phenotype of the sku mutant. 21040472 2010
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 GeneticVariation disease CLINVAR IVA is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD) resulting in the accumulation of isovaleryl-CoA and its metabolites. 22350545 2012
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 CausalMutation disease CLINVAR Isovaleric acidemia presenting as diabetic ketoacidosis: a case report. 24637313 2014
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 GeneticVariation disease CLINVAR A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia. 20519759 2010
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 GeneticVariation disease CLINVAR Previous studies of fibroblasts from patients with isovaleric acidemia (IVA), an inherited defect in IVD, have revealed that IVD precursor protein produced by type II IVA cells is 3 kDa smaller than normal and is processed inefficiently to a mature form which is also 3 kDa smaller than normal. 1310317 1992
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 GeneticVariation disease CLINVAR Previous [35S]methionine-labeling studies of fibroblasts from IVA patients have revealed at least five classes of mutations within the IVD gene. 2063866 1991
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 GeneticVariation disease BEFREE A novel duplication at the putative DNA polymerase alpha arrest site and a founder mutation in Chinese in the IVD gene underlie isovaleric acidaemia. 20519759 2010
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 CausalMutation disease CLINVAR IVA is caused by an autosomal recessive deficiency of isovaleryl-CoA dehydrogenase (IVD) resulting in the accumulation of isovaleryl-CoA and its metabolites. 22350545 2012
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 Biomarker disease CLINGEN Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts. 6630517 1983
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 GeneticVariation disease CLINVAR Nucleotide sequence of messenger RNA encoding human isovaleryl-coenzyme A dehydrogenase and its expression in isovaleric acidemia fibroblasts. 2318964 1990
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 GeneticVariation disease CLINVAR Genetic mutation profile of isovaleric acidemia patients in Taiwan. 17027310 2007
Entrez Id: 3712
Gene Symbol: IVD
IVD
0.800 CausalMutation disease CLINVAR Isovaleric acidemia (IVA) is a rare inherited metabolic disease caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD). 23587913 2013