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GENE - TERM ANNOTATION REPORT

RGD ID: 734216
Species: Homo sapiens
RGD Object: Gene
Symbol: KCNJ13
Name: potassium inwardly rectifying channel subfamily J member 13
Acc ID: DOID:0110118
Term: Leber congenital amaurosis 16
Definition: A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/21763485 "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)
KCNJ13 IAGP 7240710OMIM  
KCNJ13 EXP 11554173CTDCTD Direct Evidence: marker/mechanism 
KCNJ13 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis 16PMID:25475713 PMID:25741868 PMID:25741913
KCNJ13 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis 16PMID:25326637
KCNJ13 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis 16PMID:25921210
KCNJ13 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis 16 
KCNJ13 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis 16PMID:25741868 PMID:28492532
KCNJ13 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis 16PMID:28492532
KCNJ13 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis 16PMID:18179896 PMID:21763485 PMID:23255580 PMID:23977131 PMID:28492532 PMID:29068479 PMID:32507954
KCNJ13 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis 16PMID:27203561
KCNJ13 IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Leber congenital amaurosis 16PMID:21763485
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