DES - Gene browser

DES

desmin

HCNC Approved Symbol: DES (HGNC:2770)
Genomic Coordinates: 2:219,418,377 - 219,426,734 (2q35)
Synonyms: CMD1I, CSM1, CSM2, LGMD2R
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

11Patients

In total, 11 patients were diagnosed with a variant in the DES gene.

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

011
Patient count

Muscle weakness: 4 (36.4%)
Patient Count: 4 (36.4%)
% of total patients presenting each phenotype is shown in parentheses.
4 (36.4%)
Left ventricular hypertrophy: 3 (27.3%)
Patient Count: 3 (27.3%)
% of total patients presenting each phenotype is shown in parentheses.
3 (27.3%)
Dilated cardiomyopathy: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Heart failure: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)
Pes cavus: 2 (18.2%)
Patient Count: 2 (18.2%)
% of total patients presenting each phenotype is shown in parentheses.
2 (18.2%)