The association between KCNJ10 (Potassium Inwardly Rectifying Channel Subfamily J Member 10) and Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.
Sources5
Clinical variants381
Symptoms53
Compounds0
Trials0
Publications14
01
At a glance
Association overview
A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
