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GENE - TERM ANNOTATION REPORT

RGD ID: 11918605
Species: Pan paniscus
RGD Object: Gene
Symbol: SLC16A12
Name: solute carrier family 16 member 12
Acc ID: DOID:0070353
Term: cataract 47
Definition: A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea. (DO)
Definition Source(s): https://www.omim.org/entry/612018 "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)
SLC16A12 ISOSLC16A12 (Homo sapiens)7240710OMIM  
SLC16A12 ISOSLC16A12 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: Cataract, juvenile, with microcornea and glucosuriaPMID:17458810 PMID:18304496 PMID:21778275 PMID:24281366 PMID:25741868 PMID:26376857 PMID:26694549 PMID:28492532
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