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GENE - TERM ANNOTATION REPORT

RGD ID: 11880518
Species: Pan paniscus
RGD Object: Gene
Symbol: LOC100993185
Name: putative phosphoserine phosphatase-like protein
Acc ID: DOID:0050724
Term: PSPH deficiency
Definition: A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/PSPH "DO" "DO", http://www.omim.org/entry/614023 "DO" "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350 "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)
LOC100993185 ISOPSPH (Homo sapiens)7240710OMIM  
LOC100993185 ISOPSPH (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PSPH deficiency | ClinVar Annotator: match by term: Phosphoserine phosphatase deficiencyPMID:14673469 PMID:16199547 PMID:17576681 PMID:24146633 PMID:25080166 PMID:25741868 PMID:26589312 PMID:26633542 PMID:28492532 PMID:31515488 PMID:9222972 PMID:9536098
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