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GENE - TERM ANNOTATION REPORT

RGD ID: 12712142
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Psap
Name: prosaposin
Acc ID: DOID:10581
Term: metachromatic leukodystrophy
Definition: A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy "DO" "DO", http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy "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)
Psap ISOPSAP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophyPMID:10196694 PMID:1371116 PMID:17576681 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:20484222 PMID:23794683 PMID:24033266 PMID:24416283 PMID:24925315 PMID:25741868 PMID:25991456 PMID:26462614 PMID:28492532 PMID:30632081 PMID:30976395 PMID:31319425 PMID:32180488 PMID:34649574 PMID:35456468 PMID:9536098
Psap ISOPSAP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mildPMID:10196694 PMID:1371116 PMID:17576681 PMID:17616409 PMID:17919309 PMID:18429043 PMID:18693274 PMID:20484222 PMID:23794683 PMID:24033266 PMID:24416283 PMID:24925315 PMID:25741868 PMID:25991456 PMID:26462614 PMID:28492532 PMID:30632081 PMID:31319425 PMID:32180488 PMID:34649574 PMID:9536098
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