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GENE - TERM ANNOTATION REPORT

RGD ID: 1312081
Species: Homo sapiens
RGD Object: Gene
Symbol: P3H2
Name: prolyl 3-hydroxylase 2
Acc ID: DOID:9005145
Term: High Myopia with Cataract and Vitreoretinal Degeneration
Definition: null
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)
P3H2 IAGP 7240710OMIM  
P3H2 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
P3H2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degenerationPMID:24172257 PMID:25469533 PMID:28492532
P3H2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration | ClinVar Annotator: match by term: P3H2-related conditionPMID:25741868 PMID:28492532
P3H2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: P3H2-related conditionPMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532
P3H2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration 
P3H2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degenerationPMID:25741868
P3H2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degenerationPMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 PMID:31456290
P3H2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degenerationPMID:21885030
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