KCNJ11 - Gene browser

KCNJ11

potassium inwardly rectifying channel subfamily J member 11

HCNC Approved Symbol: KCNJ11 (HGNC:6257)
Genomic Coordinates: 11:17,385,248 - 17,389,346 (11p15.1)
Synonyms: Kir6.2, BIR
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the KCNJ11 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

04
Patient count

Seizures: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Bloody stool: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Central hypothyroidism: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Cow milk allergy: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)
Generalized aminoaciduria: 1 (25.0%)
Patient Count: 1 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (25.0%)