Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0342784
Disease: Pearson's marrow-pancreas syndrome
Pearson's marrow-pancreas syndrome 		0.100 GeneticVariation CLINVAR Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. 23480858

2013
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0342784
Disease: Pearson's marrow-pancreas syndrome
Pearson's marrow-pancreas syndrome 		0.100 CausalMutation CLINVAR VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment. 21932095

2012
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219

2012
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0342784
Disease: Pearson's marrow-pancreas syndrome
Pearson's marrow-pancreas syndrome 		0.100 CausalMutation CLINVAR Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency. 20107901

2010
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0342784
Disease: Pearson's marrow-pancreas syndrome
Pearson's marrow-pancreas syndrome 		0.100 CausalMutation CLINVAR Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. 17374501

2007
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0342784
Disease: Pearson's marrow-pancreas syndrome
Pearson's marrow-pancreas syndrome 		0.100 GeneticVariation CLINVAR Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. 11349232

2001
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0342784
Disease: Pearson's marrow-pancreas syndrome
Pearson's marrow-pancreas syndrome 		0.100 CausalMutation CLINVAR Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene. 8845838

1996
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0004245
Disease: Atrioventricular Block
Atrioventricular Block 		0.100 Biomarker HPO

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.100 Biomarker HPO

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		0.100 Biomarker HPO

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker HPO

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker HPO

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.100 Biomarker HPO

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0020639
Disease: Hypoproteinemia
Hypoproteinemia 		0.100 Biomarker HPO

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0020672
Disease: Hypothermia, natural
Hypothermia, natural 		0.100 Biomarker HPO

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0022346
Disease: Icterus
Icterus 		0.100 Biomarker HPO

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker HPO

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker HPO

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker HPO

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0030193
Disease: Pain
Pain 		0.100 Biomarker HPO

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0032285
Disease: Pneumonia
Pneumonia 		0.100 Biomarker HPO

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.100 GeneticVariation CLINVAR

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.100 CausalMutation CLINVAR

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0037763
Disease: Spasm
Spasm 		0.100 Biomarker HPO

Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
CUI: C0042510
Disease: Ventricular Fibrillation
Ventricular Fibrillation 		0.100 Biomarker HPO