USP53 - Gene browser

USP53

ubiquitin specific peptidase 53

HCNC Approved Symbol: USP53 (HGNC:29255)
Genomic Coordinates: 4:119,212,601 - 119,295,518 (4q26)
Synonyms: KIAA1350
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

13Patients

In total, 13 patients were diagnosed with a variant in the USP53 gene.

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

013
Patient count

Intrahepatic cholestasis: 10 (76.9%)
Patient Count: 10 (76.9%)
% of total patients presenting each phenotype is shown in parentheses.
10 (76.9%)
Hepatic failure: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Jaundice: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Asthma: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Cholestatic liver disease: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)