CRTAP - Gene browser | 3billion

CRTAP

CRTAP

cartilage associated protein

HCNC Approved Symbol: CRTAP (HGNC:2379)
Genomic Coordinates: 3:33,114,014 - 33,147,773 (3p22.3)
Synonyms: CASP, LEPREL3, P3H5
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

3Patients

In total, 3 patients were diagnosed with a variant in the CRTAP gene.

Frequently observed phenotypes(Top 5 only)

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

03
Patient count

Bone fractures, multiple: 3 (100.0%)
Patient Count: 3 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (100.0%)
Bone fractures: 2 (66.7%)
Patient Count: 2 (66.7%)
% of total patients presenting each phenotype is shown in parentheses.
2 (66.7%)
Congenital bone fractures: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)

Last updated: 2024-06-30

CRTAP - Gene browser | 3billion