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Gene BrowserrightABCB4

ABCB4

ATP binding cassette subfamily B member 4

HCNC Approved Symbol
ABCB4 (HGNC:45)
Genomic Coordinates
7:87,365,896 - 87,476,027 (7q21.12)
Synonyms
MDR2, PFIC-3, GBD1, PGY3, MDR3
Disease Associations
This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

18Patients

Total 18 patients were diagnosed with a variant in the ABCB4 gene.

Frequently observed phenotypes (Top 5 only)

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

018
Patient count
Jaundice
 6(33.3%)
Patient Count: 6 (33.3%)

% of total patients presenting each phenotype is shown in parentheses.

 6(33.3%)
Portal hypertension
 6(33.3%)
Patient Count: 6 (33.3%)

% of total patients presenting each phenotype is shown in parentheses.

 6(33.3%)
Splenomegaly
 5(27.8%)
Patient Count: 5 (27.8%)

% of total patients presenting each phenotype is shown in parentheses.

 5(27.8%)
Hepatomegaly
 4(22.2%)
Patient Count: 4 (22.2%)

% of total patients presenting each phenotype is shown in parentheses.

 4(22.2%)
Elevated liver enzymes
 4(22.2%)
Patient Count: 4 (22.2%)

% of total patients presenting each phenotype is shown in parentheses.

 4(22.2%)
No Results
• Last updated: 2024-06-30
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