DisGeNET - a database of gene-disease associations

Adenylosuccinate lyase deficiency (disorder), C0268126

Source: CURATED ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs119450943

ADSL

0.700

GeneticVariation

UNIPROT

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

23519317

2013

dbSNP:

rs376533026

ADSL

0.700

GeneticVariation

UNIPROT

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

23519317

2013

dbSNP:

rs143083947

ADSL

0.700

GeneticVariation

UNIPROT

Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.

22812634

2012

dbSNP:

rs1465152683

ADSL

0.700

GeneticVariation

UNIPROT

Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.

22812634

2012

dbSNP:

rs370851726

ADSL

0.700

GeneticVariation

UNIPROT

Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.

22812634

2012

dbSNP:

rs372895468

ADSL

0.700

GeneticVariation

UNIPROT

Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.

22812634

2012

dbSNP:

rs554254383

ADSL

0.700

GeneticVariation

UNIPROT

Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.

22812634

2012

dbSNP:

rs755492501

ADSL

0.700

GeneticVariation

UNIPROT

Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.

22812634

2012

dbSNP:

rs143083947

ADSL

0.700

GeneticVariation

UNIPROT

Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.

19405474

2009

dbSNP:

rs1465152683

ADSL

0.700

GeneticVariation

UNIPROT

Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.

19405474

2009

dbSNP:

rs370851726

ADSL

0.700

GeneticVariation

UNIPROT

Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.

19405474

2009

dbSNP:

rs372895468

ADSL

0.700

GeneticVariation

UNIPROT

Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.

19405474

2009

dbSNP:

rs554254383

ADSL

0.700

GeneticVariation

UNIPROT

Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.

19405474

2009

dbSNP:

rs755492501

ADSL

0.700

GeneticVariation

UNIPROT

Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.

19405474

2009

dbSNP:

rs143083947

ADSL

0.700

GeneticVariation

UNIPROT

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.

12833398

2003

dbSNP:

rs1465152683

ADSL

0.700

GeneticVariation

UNIPROT

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.

12833398

2003

dbSNP:

rs370851726

ADSL

0.700

GeneticVariation

UNIPROT

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.

12833398

2003

dbSNP:

rs372895468

ADSL

0.700

GeneticVariation

UNIPROT

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.

12833398

2003

dbSNP:

rs554254383

ADSL

0.700

GeneticVariation

UNIPROT

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.

12833398

2003

dbSNP:

rs755492501

ADSL

0.700

GeneticVariation

UNIPROT

Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.

12833398

2003

dbSNP:

rs143083947

ADSL

0.700

GeneticVariation

UNIPROT

Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.

12368987

2002

dbSNP:

rs1465152683

ADSL

0.700

GeneticVariation

UNIPROT

Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.

12368987

2002

dbSNP:

rs370851726

ADSL

0.700

GeneticVariation

UNIPROT

Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.

12368987

2002

dbSNP:

rs372895468

ADSL

0.700

GeneticVariation

UNIPROT

Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.

12368987

2002

dbSNP:

rs554254383

ADSL

0.700

GeneticVariation

UNIPROT

Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.

12368987

2002