ABCB11 - Gene browser

ABCB11

ATP binding cassette subfamily B member 11

HCNC Approved Symbol: ABCB11 (HGNC:42)
Genomic Coordinates: 2:168,915,390 - 169,031,324 (2q31.1)
Synonyms: ABC16, SPGP, PFIC-2, PGY4, BSEP, PFIC2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

26Patients

In total, 26 patients were diagnosed with a variant in the ABCB11 gene.

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

026
Patient count

Hepatomegaly: 11 (42.3%)
Patient Count: 11 (42.3%)
% of total patients presenting each phenotype is shown in parentheses.
11 (42.3%)
Cholestasis: 10 (38.5%)
Patient Count: 10 (38.5%)
% of total patients presenting each phenotype is shown in parentheses.
10 (38.5%)
Hepatosplenomegaly: 6 (23.1%)
Patient Count: 6 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
6 (23.1%)
Jaundice: 5 (19.2%)
Patient Count: 5 (19.2%)
% of total patients presenting each phenotype is shown in parentheses.
5 (19.2%)
Itching: 5 (19.2%)
Patient Count: 5 (19.2%)
% of total patients presenting each phenotype is shown in parentheses.
5 (19.2%)