ATP7B - Gene browser

ATP7B

ATPase copper transporting beta

HCNC Approved Symbol: ATP7B (HGNC:870)
Genomic Coordinates: 13:51,932,669 - 52,012,132 (13q14.3)
Synonyms: WND
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

75Patients

In total, 75 patients were diagnosed with a variant in the ATP7B gene.

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

075
Patient count

Elevated liver enzymes: 7 (9.3%)
Patient Count: 7 (9.3%)
% of total patients presenting each phenotype is shown in parentheses.
7 (9.3%)
Acute liver failure: 6 (8.0%)
Patient Count: 6 (8.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (8.0%)
Increased urinary copper concentration: 5 (6.7%)
Patient Count: 5 (6.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (6.7%)
Elevated hepatic transaminase: 5 (6.7%)
Patient Count: 5 (6.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (6.7%)
Hypercholesterolemia: 5 (6.7%)
Patient Count: 5 (6.7%)
% of total patients presenting each phenotype is shown in parentheses.
5 (6.7%)