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GENE - TERM ANNOTATION REPORT

RGD ID: 1562582
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tti1
Name: TELO2 interacting protein 1
Acc ID: DOID:9007570
Term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
Definition: This disease is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech, and delayed walking with an abnormal gait.
Definition Source(s): MIM:620445
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)
Tti1 ISOTTI1 (Homo sapiens)7240710OMIM  
Tti1 ISOTTI1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and movement abnormalitiesPMID:25741868 PMID:26539891 PMID:36724785
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