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PRG4

proteoglycan 4

HCNC Approved Symbol
PRG4 (HGNC:9364)
Genomic Coordinates
1:186,296,273 - 186,314,567 (1q31.1)
Synonyms
JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635, CACP
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the PRG4 gene.

Frequently observed phenotypes

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

Abnormal joint morphology
 2 (28.6%)
Brachydactyly
 2 (28.6%)
Broad neck
 2 (28.6%)
Camptodactyly of toe
 2 (28.6%)
Camptodactyly, bilateral
 2 (28.6%)
PRG4 - Gene browser | 3billion