COMP - Gene browser

COMP

cartilage oligomeric matrix protein

HCNC Approved Symbol: COMP (HGNC:2227)
Genomic Coordinates: 19:18,782,773 - 18,791,305 (19p13.11)
Synonyms: MED, THBS5, TSP5, TSP-5, PSACH, EDM1, EPD1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

12Patients

In total, 12 patients were diagnosed with a variant in the COMP gene.

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

012
Patient count

Skeletal dysplasia: 4 (33.3%)
Patient Count: 4 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
4 (33.3%)
Genu varum: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Waddling gait: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Short stature: 3 (25.0%)
Patient Count: 3 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (25.0%)
Disproportionate short-limb short stature: 2 (16.7%)
Patient Count: 2 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (16.7%)