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GENE - TERM ANNOTATION REPORT

RGD ID: 736045
Species: Mus musculus
RGD Object: Gene
Symbol: Minpp1
Name: multiple inositol polyphosphate histidine phosphatase 1
Acc ID: DOID:0080191
Term: PTEN hamartoma tumor syndrome
Definition: A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. (DO)
Definition Source(s): https://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/ "DO" "DO", https://www.ncbi.nlm.nih.gov/books/NBK1488/ "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22628360 "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)
Minpp1 ISOMINPP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: PTEN hamartoma tumor syndromePMID:16287957 PMID:16685657 PMID:18456716 PMID:18510548 PMID:21194675 PMID:22993021 PMID:23331837 PMID:23335809 PMID:23399955 PMID:28492532 PMID:9286463 PMID:9467011
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