ASS1, argininosuccinate synthase 1, 445

N. diseases: 163; N. variants: 86
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group GENOMICS_ENGLAND Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. 19006241 2009
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group HPO