RUNX2 - Gene browser

RUNX2

RUNX family transcription factor 2

HCNC Approved Symbol: RUNX2 (HGNC:10472)
Genomic Coordinates: 6:45,328,330 - 45,551,082 (6p21.1)
Synonyms: AML3, PEBP2A1, PEBP2aA1, CCD, CBFA1, CCD1
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the RUNX2 gene.

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

013
Patient count

Short clavicles: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Generalized joint laxity: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Growth retardation: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Abnormality of the clavicle: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)
Mild short stature: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)