IVD, isovaleryl-CoA dehydrogenase, 3712

N. diseases: 42; N. variants: 65
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 Biomarker disease CTD_human
CUI: C0268575
Disease: Isovaleryl-CoA dehydrogenase deficiency
Isovaleryl-CoA dehydrogenase deficiency 		0.800 GermlineCausalMutation disease ORPHANET
CUI: C0009421
Disease: Comatose
Comatose 		0.100 Biomarker phenotype HPO
CUI: C0011175
Disease: Dehydration
Dehydration 		0.100 Biomarker phenotype HPO
CUI: C0011175
Disease: Dehydration
Dehydration 		0.100 CausalMutation phenotype CLINVAR
CUI: C0022638
Disease: Ketosis
Ketosis 		0.100 Biomarker disease HPO
CUI: C0022638
Disease: Ketosis
Ketosis 		0.100 CausalMutation disease CLINVAR
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 CausalMutation phenotype CLINVAR
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.100 Biomarker disease HPO
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation phenotype CLINVAR
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.100 Biomarker phenotype HPO
CUI: C0042963
Disease: Vomiting
Vomiting 		0.100 Biomarker phenotype HPO
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		0.100 Biomarker phenotype HPO
CUI: C0220994
Disease: Hyperammonemia
Hyperammonemia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		0.100 CausalMutation phenotype CLINVAR
CUI: C0543541
Disease: HYPERGLYCINURIA (disorder)
HYPERGLYCINURIA (disorder) 		0.100 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 Biomarker disease HPO
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		0.100 CausalMutation phenotype CLINVAR
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		0.100 Biomarker phenotype HPO
CUI: C2237142
Disease: Moderate global developmental delay
Moderate global developmental delay 		0.100 CausalMutation phenotype CLINVAR
CUI: C4017056
Disease: ISOVALERIC ACIDEMIA, TYPE I
ISOVALERIC ACIDEMIA, TYPE I 		0.100 CausalMutation disease CLINVAR