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GENE - TERM ANNOTATION REPORT

RGD ID: 1605097
Species: Homo sapiens
RGD Object: Gene
Symbol: TELO2
Name: telomere maintenance 2
Acc ID: DOID:9008826
Term: YOU-HOOVER-FONG SYNDROME
Definition: This is a disorder characterized by severely delayed global development, microcephaly, abnormal balance and movement.
Definition Source(s): OMIM:616954
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)
TELO2 IAGP 7240710OMIM  
TELO2 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
TELO2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorderPMID:27132593 PMID:28492532
TELO2 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorderPMID:27132593
TELO2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorderPMID:25741868 PMID:27132593 PMID:28492532
TELO2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorderPMID:24033266 PMID:25741868 PMID:27132593 PMID:28492532 PMID:32940098
TELO2 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)8554872ClinVarClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorderPMID:25741868
TELO2 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)8554872ClinVarClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorderPMID:25741868 PMID:28492532
TELO2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorder 
TELO2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorderPMID:28492532
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