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GENE - TERM ANNOTATION REPORT

RGD ID: 1604785
Species: Homo sapiens
RGD Object: Gene
Symbol: TTI2
Name: TELO2 interacting protein 2
Acc ID: DOID:0081204
Term: autosomal recessive intellectual developmental disorder 39
Definition: An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/23956177/ "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)
TTI2 IAGP 7240710OMIM  
TTI2 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
TTI2 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)8554872ClinVarClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 39 | ClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromePMID:25741868
TTI2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 
TTI2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromePMID:23956177 PMID:25741868 PMID:31737043 PMID:32061250
TTI2 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromePMID:31290144
TTI2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromePMID:21937992
TTI2 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndromePMID:23956177
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