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: rs119450944
rs119450944
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs119450944
rs119450944
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs119450944
rs119450944
Entrez Id: 158
Gene Symbol: ADSL
ADSL
CUI: C0268126
Disease:
Adenylosuccinate lyase deficiency (disorder) 		G 0.800 GeneticVariation CLINVAR