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GENE - TERM ANNOTATION REPORT

RGD ID: 1316917
Species: Mus musculus
RGD Object: Gene
Symbol: Adsl
Name: adenylosuccinate lyase
Acc ID: DOID:0050762
Term: adenylosuccinase lyase deficiency
Definition: An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13169167240710OMIM  
 ISORGD:13169168554872ClinVarClinVar Annotator: match by null

PMID:12016589
 ISORGD:13169168554872ClinVarClinVar Annotator: match by OMIM:103050

 
 ISORGD:13169168554872ClinVarClinVar Annotator: match by OMIM:103050

PMID:1302001, PMID:6150139
 ISORGD:13169168554872ClinVarClinVar Annotator: match by OMIM:103050

PMID:15571240, PMID:16403972, PMID:9545543
 ISORGD:13169168554872ClinVarClinVar Annotator: match by OMIM:103050

PMID:18830228
 ISORGD:13169168554872ClinVarClinVar Annotator: match by OMIM:103050

PMID:8598641, PMID:9197470, PMID:9545543
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:10090474, PMID:10888601, PMID:12833398, PMID:16839792, PMID:17188615, PMID:18524658, PMID:20127976, PMID:20175147, PMID:20933180, PMID:22180458, PMID:23504561, PMID:23714113, PMID:24033266, PMID:25112391, PMID:25741868, PMID:26467025, PMID:27504266, PMID:28487569, PMID:28492532, PMID:28559277, PMID:9266401
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:10090474, PMID:10888601, PMID:201127976, PMID:22180458, PMID:28492532
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:10090474, PMID:28492532
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:10888601, PMID:18524658, PMID:20127976, PMID:22180458, PMID:25741868, PMID:28492532
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:10888601, PMID:20177786, PMID:28492532
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:10958654, PMID:20127976, PMID:22812634, PMID:23714113, PMID:28492532
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:12016589, PMID:25741868
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:12070256, PMID:28492532
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:12368987, PMID:19405474, PMID:20127976, PMID:21210713
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:15571235, PMID:25741868, PMID:26467025
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:16839792, PMID:20127976, PMID:28492532
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:16839792, PMID:25741868, PMID:28492532
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:25326635, PMID:25741868, PMID:26467025, PMID:28492532
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:25326635, PMID:25741868, PMID:28492532
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:25741868
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:25741868, PMID:26467025, PMID:28492532
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:25741868, PMID:28492532
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:26467025, PMID:28492532
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:28487569, PMID:28492532
 ISORGD:13169168554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiency

PMID:28492532
 ISORGD:131691611554173CTDCTD Direct Evidence: marker/mechanism

PMID:10888601, PMID:10958654, PMID:12833398
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.