PYGM - Gene browser

PYGM

glycogen phosphorylase, muscle associated

HCNC Approved Symbol: PYGM (HGNC:9726)
Genomic Coordinates: 11:64,746,389 - 64,760,715 (11q13.1)
Synonyms: GSD5
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the PYGM gene.

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

08
Patient count

Myopathy: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Rhabdomyolysis: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Myalgia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Elevated creatine kinase: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Exercise-induced myalgia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)