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GENE - TERM ANNOTATION REPORT

RGD ID: 11937404
Species: Pan paniscus
RGD Object: Gene
Symbol: LOC100978046
Name: gamma-crystallin D
Acc ID: DOID:0110986
Term: Joubert Syndrome 17
Definition: A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. (DO)
Definition Source(s): PMID:26092869 "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)
LOC100978046 ISOCRYGD (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Joubert syndrome 17PMID:19390652 PMID:22995991 PMID:25741868 PMID:28492532
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