ADSL, adenylosuccinate lyase, 158

N. diseases: 8; N. variants: 26
Disease: Adenylosuccinate lyase deficiency (disorder) ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202064195
rs202064195
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		0.800 GeneticVariation UNIPROT Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation. 22812634 2012
dbSNP: rs202064195
rs202064195
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		0.800 GeneticVariation UNIPROT Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants. 19405474 2009
dbSNP: rs202064195
rs202064195
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		0.800 GeneticVariation UNIPROT Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. 12833398 2003
dbSNP: rs202064195
rs202064195
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		0.800 GeneticVariation UNIPROT Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients. 12368987 2002
dbSNP: rs202064195
rs202064195
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		0.800 GeneticVariation UNIPROT Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency. 10958654 2000
dbSNP: rs202064195
rs202064195
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		0.800 GeneticVariation UNIPROT 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
dbSNP: rs202064195
rs202064195
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		0.800 GeneticVariation UNIPROT Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. 10090474 1999
dbSNP: rs202064195
rs202064195
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		0.800 GeneticVariation UNIPROT Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells. 9545543 1998
dbSNP: rs202064195
rs202064195
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		0.800 GeneticVariation UNIPROT Adenylosuccinase deficiency presenting with epilepsy in early infancy. 9266401 1997
dbSNP: rs202064195
rs202064195
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		0.800 GeneticVariation UNIPROT A mutation in adenylosuccinate lyase associated with mental retardation and autistic features. 1302001 1992
dbSNP: rs202064195
rs202064195
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		T 0.800 GeneticVariation CLINVAR