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GENE - TERM ANNOTATION REPORT

RGD ID: 13883297
Species: Sus scrofa
RGD Object: Gene
Symbol: TMPRSS3
Name: transmembrane serine protease 3
Acc ID: DOID:9263
Term: homocystinuria
Definition: An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Homocystinuria "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)
TMPRSS3 ISOTMPRSS3 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATEDPMID:10338090 PMID:12124992 PMID:28492532
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