rs367814475, IVD

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR
Isovaleryl-CoA dehydrogenase deficiency
0.700 CausalMutation CLINVAR
Episodic vomiting
CUI: C1838993
Disease: Episodic vomiting
0.700 CausalMutation CLINVAR
Ketosis
CUI: C0022638
Disease: Ketosis
0.700 CausalMutation CLINVAR
Lethargy
CUI: C0023380
Disease: Lethargy
0.700 CausalMutation CLINVAR
Hyperammonemia
CUI: C0220994
Disease: Hyperammonemia
0.700 CausalMutation CLINVAR
Recurrent infections
CUI: C0239998
Disease: Recurrent infections
0.700 CausalMutation CLINVAR
Dehydration
CUI: C0011175
Disease: Dehydration
0.700 CausalMutation CLINVAR
Moderate global developmental delay
CUI: C2237142
Disease: Moderate global developmental delay
0.700 CausalMutation CLINVAR