ADSL, adenylosuccinate lyase, 158

N. diseases: 8; N. variants: 26
Disease: Adenylosuccinate lyase deficiency type 3 ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721813
Disease: Adenylosuccinate lyase deficiency type 3
Adenylosuccinate lyase deficiency type 3 		0.300 Biomarker disease CTD_human Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. 12833398 2003
CUI: C4721813
Disease: Adenylosuccinate lyase deficiency type 3
Adenylosuccinate lyase deficiency type 3 		0.300 Biomarker disease CTD_human Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. 10888601 2000
CUI: C4721813
Disease: Adenylosuccinate lyase deficiency type 3
Adenylosuccinate lyase deficiency type 3 		0.300 Biomarker disease CTD_human Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. 10958654 2000