ABCC9 - Gene browser

ABCC9

ATP binding cassette subfamily C member 9

HCNC Approved Symbol: ABCC9 (HGNC:60)
Genomic Coordinates: 12:21,797,389 - 21,941,426 (12p12.1)
Synonyms: SUR2, CMD1O
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

8Patients

In total, 8 patients were diagnosed with a variant in the ABCC9 gene.

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

08
Patient count

Hirsutism: 3 (37.5%)
Patient Count: 3 (37.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (37.5%)
Thick lip: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Epicanthic folds: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Atrial fibrillation: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Abnormality of lysosomal metabolism: 1 (12.5%)
Patient Count: 1 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
1 (12.5%)