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GENE - TERM ANNOTATION REPORT

RGD ID: 61822
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Kcnj10
Name: potassium inwardly-rectifying channel, subfamily J, member 10
Acc ID: DOID:0060484
Term: EAST syndrome
Definition: A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19289823 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/19420365 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/23471908 "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)
Kcnj10 ISOKCNJ10 (Homo sapiens)8662866RGDDNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human) 
Kcnj10 ISOKCNJ10 (Homo sapiens)7240710OMIM  
Kcnj10 ISOKCNJ10 (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanism 
Kcnj10 ISOKCNJ10 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance SyndromePMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 PMID:21221631 PMID:21458570 PMID:21849804 PMID:22612257 PMID:22782654 PMID:23869231 PMID:23918157 PMID:23924083 PMID:23965030 PMID:24193250 PMID:24378235 PMID:24480364 PMID:24561201 PMID:24860705 PMID:25372295 PMID:25741868 PMID:25741909 PMID:25741916 PMID:26467025 PMID:26867573 PMID:27171548 PMID:27182706 PMID:27500072 PMID:27535533 PMID:27677466 PMID:27875746 PMID:27884173 PMID:28492532 PMID:28747464 PMID:28835827 PMID:29191078 PMID:29615871 PMID:30304693 PMID:30733538 PMID:32062759 PMID:32233732 PMID:32581362 PMID:33084218
Kcnj10 ISSKcnj10 (Mus musculus)13592920MouseDOOMIM:612780 
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