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GENE - TERM ANNOTATION REPORT

RGD ID: 12202186
Species: Canis lupus familiaris
RGD Object: Gene
Symbol: THTPA
Name: thiamine triphosphatase
Acc ID: DOID:0081075
Term: Marsili syndrome
Definition: A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11. (DO)
Definition Source(s): PMID:29253101 "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)
THTPA ISOTHTPA (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Indifference to pain, congenital, autosomal dominant | ClinVar Annotator: match by term: ZFHX2-related conditionPMID:25741868 PMID:28492532 PMID:29253101
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