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GENE - TERM ANNOTATION REPORT

RGD ID: 1307617
Species: Rattus norvegicus
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 "DO" "DO"
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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Adsl ISOADSL (Homo sapiens)7240710OMIM  
Adsl ISOADSL (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:10888601 PMID:10958654 PMID:12833398
Adsl ISOADSL (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Adenylosuccinate lyase deficiencyPMID:10090474 PMID:10888601 PMID:10958654 PMID:12016589 PMID:12070256 PMID:12368987 PMID:12833398 PMID:1302001 PMID:1405483 PMID:15571235 PMID:15571240 PMID:16199547 PMID:16403972 PMID:16839792 PMID:17188615 PMID:17576681 PMID:18524658 PMID:18830228 PMID:19405474 PMID:20049533 PMID:20127976 PMID:20175147 PMID:20177786 PMID:20884265 PMID:20933180 PMID:21210713 PMID:22180458 PMID:22812634 PMID:23055421 PMID:23504561 PMID:23714113 PMID:23937257 PMID:24033266 PMID:24781210 PMID:25112391 PMID:25326635 PMID:25741868 PMID:25910213 PMID:26467025 PMID:27504266 PMID:28487569 PMID:28492532 PMID:28559277 PMID:29302074 PMID:29314763 PMID:29655203 PMID:30185235 PMID:30609409 PMID:31164858 PMID:31440721 PMID:31467849 PMID:31623504 PMID:3234432 PMID:32681428 PMID:33648541 PMID:6150139 PMID:7334371 PMID:8598641 PMID:9165520 PMID:9197470 PMID:9266401 PMID:9536098 PMID:9545543
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