Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 Biomarker disease CTD_human
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GermlineCausalMutation disease ORPHANET
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease BEFREE Isovaleric acidemia (IVA), a rare recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. 17027310 2007
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 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 GeneticVariation disease UNIPROT 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 GeneticVariation disease BEFREE Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by deficiency of mitochondrial isovaleryl-CoA dehydrogenase (IVD). 22960500 2012
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 Biomarker disease BEFREE Isovaleric acidemia (IVA) is a rare inherited metabolic disease caused by a deficiency in isovaleryl-CoA dehydrogenase (IVD). 23587913 2013
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 Biomarker disease BEFREE Isovaleric acidemia (IVA) is an inborn error of metabolism caused by deficiency of isovaleryl-CoA dehydrogenase. 31707166 2020
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA 		0.010 GeneticVariation disease BEFREE PIK3CA mutation status was strongly associated with overall survival (OS) in FIGO stage IB/II patients, unadjusted HR 6.0 (95% CI 2.1-17.5), p=0.0002, but not stage III/IVA patients, unadjusted HR 1.0 (95% CI 0.32-3.1), p=0.98. 23266353 2013
Entrez Id: 4060
Gene Symbol: LUM
LUM 		0.020 Biomarker disease BEFREE LUM/IVA treatment was initiated at a low dose and the dose increased stepwise. 29451946 2018
Entrez Id: 7534
Gene Symbol: YWHAZ
YWHAZ 		0.010 Biomarker disease BEFREE Phospholipase A2-IVA (PLA2G4A) is the most abundant subtype of cytoplasmic phospholipase A2 (cPLA2) and is an important enzyme in tumor development. 30328712 2018
Entrez Id: 151056
Gene Symbol: PLB1
PLB1 		0.010 Biomarker disease BEFREE Phospholipase A2-IVA (PLA2G4A) is the most abundant subtype of cytoplasmic phospholipase A2 (cPLA2) and is an important enzyme in tumor development. 30328712 2018
Entrez Id: 5319
Gene Symbol: PLA2G1B
PLA2G1B 		0.010 Biomarker disease BEFREE Phospholipase A2-IVA (PLA2G4A) is the most abundant subtype of cytoplasmic phospholipase A2 (cPLA2) and is an important enzyme in tumor development. 30328712 2018
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease CLINVAR A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. 15486829 2004
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 CausalMutation disease CLINVAR A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. 15486829 2004
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 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: 9519
Gene Symbol: TBPL1
TBPL1 		0.010 AlteredExpression disease BEFREE Additionally, high TRF2 expression levels had a positive impact in five year survival rate of stage IIIB-IVA patients (P = 0.04). 25654471 2014
Entrez Id: 7014
Gene Symbol: TERF2
TERF2 		0.010 AlteredExpression disease BEFREE Additionally, high TRF2 expression levels had a positive impact in five year survival rate of stage IIIB-IVA patients (P = 0.04). 25654471 2014
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 Biomarker disease GENOMICS_ENGLAND An atlas of genetic influences on human blood metabolites. 24816252 2014
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 GeneticVariation disease CLINVAR An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. 16825284 2006
Entrez Id: 3712
Gene Symbol: IVD
IVD 		0.800 CausalMutation disease CLINVAR Angelman syndrome and isovaleric acidemia: What is the link? 26937393 2015
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