3billion
back to listBack to List

SERPINF1

serpin family F member 1

HCNC Approved Symbol
SERPINF1 (HGNC:8824)
Genomic Coordinates
17:1,762,060 - 1,777,565 (17p13.3)
Synonyms
EPC-1, PIG35, PEDF
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the SERPINF1 gene.

Frequently observed phenotypes

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

Bone fractures
 4 (80.0%)
Bone fragility
 3 (60.0%)
Blue sclera
 2 (40.0%)
Blue sclerae
 2 (40.0%)
Increased susceptibility to fractures
 2 (40.0%)
SERPINF1 - Gene browser | 3billion