ARG1, arginase 1, 383

N. diseases: 273; N. variants: 47
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype BEFREE In contrast to other urea cycle defects, arginase 1 deficiency usually does not cause catastrophic neonatal hyperammonemia but rather presents with progressive neurological symptoms including seizures and spastic paraplegia in the first years of life and hepatic pathology, such as neonatal cholestasis, acute liver failure, or liver fibrosis. 26123990 2015
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO