AASS, aminoadipate-semialdehyde synthase, 10157

N. diseases: 34; N. variants: 7
Disease: Hyperlysinemia, type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0543533
Disease: Hyperlysinemia, type I
Hyperlysinemia, type I 		0.400 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0543533
Disease: Hyperlysinemia, type I
Hyperlysinemia, type I 		0.400 Biomarker disease GENOMICS_ENGLAND Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. 10775527 2000
CUI: C0543533
Disease: Hyperlysinemia, type I
Hyperlysinemia, type I 		0.400 CausalMutation disease CLINVAR