P4HB - Gene browser

P4HB

prolyl 4-hydroxylase subunit beta

HCNC Approved Symbol: P4HB (HGNC:8548)
Genomic Coordinates: 17:81,843,166 - 81,860,535 (17q25.3)
Synonyms: PDIA1, PROHB, DSI, GIT, PDI, PO4HB, P4Hbeta, PO4DB, ERBA2L
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

1Patient

In total, 1 patient was diagnosed with a variant in the P4HB gene.

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

01
Patient count

Abnormal vertebral column: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Cryptorchidism: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Dysmorphic features: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Failure to thrive: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hypocalcemia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)