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GENE - TERM ANNOTATION REPORT

RGD ID: 1586305
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Tomm20l
Name: translocase of outer mitochondrial membrane 20 like
Acc ID: DOID:0110992
Term: Joubert syndrome 23
Definition: A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/26096313 "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)
Tomm20l ISOTOMM20L (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Joubert syndrome 23PMID:26096313 PMID:26166481 PMID:26386044 PMID:28492532
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