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GENE - TERM ANNOTATION REPORT

RGD ID: 733897
Species: Homo sapiens
RGD Object: Gene
Symbol: TH
Name: tyrosine hydroxylase
Acc ID: DOID:0050524
Term: maturity-onset diabetes of the young
Definition: A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young "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)
TH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Maturity onset diabetes mellitus in youngPMID:25741868 PMID:26467025 PMID:28492532 PMID:30456822
TH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Maturity onset diabetes mellitus in youngPMID:12610512 PMID:25741868 PMID:26467025 PMID:33206859
TH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Maturity onset diabetes mellitus in youngPMID:22572540 PMID:24275212 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30455893 PMID:35083481
TH IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Maturity onset diabetes mellitus in youngPMID:11921414 PMID:18171712 PMID:25542748 PMID:26101329
TH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Maturity onset diabetes mellitus in youngPMID:18162506 PMID:25741868 PMID:28492532
TH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Maturity onset diabetes mellitus in youngPMID:26467025 PMID:28492532
TH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Maturity onset diabetes mellitus in youngPMID:26467025
TH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Maturity onset diabetes mellitus in youngPMID:25741868 PMID:33953728
TH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Maturity onset diabetes mellitus in youngPMID:11921414 PMID:18171712 PMID:25542748 PMID:25741868 PMID:26101329 PMID:26467025 PMID:28492532
TH IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Maturity onset diabetes mellitus in youngPMID:25741868 PMID:27635400
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