DYSF - Gene browser

DYSF

dysferlin

HCNC Approved Symbol: DYSF (HGNC:3097)
Genomic Coordinates: 2:71,453,561 - 71,686,763 (2p13.2)
Synonyms: FER1L1, LGMD2B
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

81Patients

In total, 81 patients were diagnosed with a variant in the DYSF gene.

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

081
Patient count

Muscle weakness: 21 (25.9%)
Patient Count: 21 (25.9%)
% of total patients presenting each phenotype is shown in parentheses.
21 (25.9%)
Proximal muscle weakness: 19 (23.5%)
Patient Count: 19 (23.5%)
% of total patients presenting each phenotype is shown in parentheses.
19 (23.5%)
Elevated creatine kinase: 14 (17.3%)
Patient Count: 14 (17.3%)
% of total patients presenting each phenotype is shown in parentheses.
14 (17.3%)
Abnormal circulating creatine kinase concentration: 13 (16.0%)
Patient Count: 13 (16.0%)
% of total patients presenting each phenotype is shown in parentheses.
13 (16.0%)
Myopathy: 11 (13.6%)
Patient Count: 11 (13.6%)
% of total patients presenting each phenotype is shown in parentheses.
11 (13.6%)