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:

rs755492501

ADSL

0.700

GeneticVariation

UNIPROT

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

12368987

2002

dbSNP:

rs143083947

ADSL

0.700

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:

rs143083947

ADSL

0.700

GeneticVariation

UNIPROT

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.

10958654

2000

dbSNP:

rs1465152683

ADSL

0.700

GeneticVariation

UNIPROT

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.

10958654

2000

dbSNP:

rs1465152683

ADSL

0.700

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:

rs370851726

ADSL

0.700

GeneticVariation

UNIPROT

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.

10958654

2000

dbSNP:

rs370851726

ADSL

0.700

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:

rs372895468

ADSL

0.700

GeneticVariation

UNIPROT

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.

10958654

2000

dbSNP:

rs372895468

ADSL

0.700

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:

rs554254383

ADSL

0.700

GeneticVariation

UNIPROT

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.

10958654

2000

dbSNP:

rs554254383

ADSL

0.700

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:

rs755492501

ADSL

0.700

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:

rs755492501

ADSL

0.700

GeneticVariation

UNIPROT

Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.

10958654

2000

dbSNP:

rs143083947

ADSL

0.700

GeneticVariation

UNIPROT

Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

10090474

1999

dbSNP:

rs1465152683

ADSL

0.700

GeneticVariation

UNIPROT

Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

10090474

1999

dbSNP:

rs370851726

ADSL

0.700

GeneticVariation

UNIPROT

Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

10090474

1999

dbSNP:

rs372895468

ADSL

0.700

GeneticVariation

UNIPROT

Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

10090474

1999

dbSNP:

rs554254383

ADSL

0.700

GeneticVariation

UNIPROT

Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

10090474

1999

dbSNP:

rs755492501

ADSL

0.700

GeneticVariation

UNIPROT

Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

10090474

1999

dbSNP:

rs143083947

ADSL

0.700

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:

rs1465152683

ADSL

0.700

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:

rs370851726

ADSL

0.700

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:

rs372895468

ADSL

0.700

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:

rs554254383

ADSL

0.700

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:

rs755492501

ADSL

0.700

GeneticVariation

UNIPROT

Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells.

9545543

1998