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GENE - TERM ANNOTATION REPORT

RGD ID: 620904
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Sh3kbp1
Name: SH3 domain-containing kinase-binding protein 1
Acc ID: DOID:0060599
Term: Nance-Horan syndrome
Definition: A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Nance-Horan_syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/2246772 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/6467651 "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)
Sh3kbp1 ISOSH3KBP1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Nance-Horan syndromePMID:17304053 PMID:18076117 PMID:25315662 PMID:28492532 PMID:30945684
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