PDGFRB - Gene browser

PDGFRB

platelet derived growth factor receptor beta

HCNC Approved Symbol: PDGFRB (HGNC:8804)
Genomic Coordinates: 5:150,113,839 - 150,155,845 (5q32)
Synonyms: JTK12, CD140b, PDGFR1, PDGFR
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

Diagnosed Cases

12Patients

In total, 12 patients were diagnosed with a variant in the PDGFRB gene.

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

012
Patient count

Corneal opacities: 10 (83.3%)
Patient Count: 10 (83.3%)
% of total patients presenting each phenotype is shown in parentheses.
10 (83.3%)
Corneal opacity: 10 (83.3%)
Patient Count: 10 (83.3%)
% of total patients presenting each phenotype is shown in parentheses.
10 (83.3%)
Pterygium: 10 (83.3%)
Patient Count: 10 (83.3%)
% of total patients presenting each phenotype is shown in parentheses.
10 (83.3%)
Punctate keratitis: 10 (83.3%)
Patient Count: 10 (83.3%)
% of total patients presenting each phenotype is shown in parentheses.
10 (83.3%)
Superficial keratectomy: 10 (83.3%)
Patient Count: 10 (83.3%)
% of total patients presenting each phenotype is shown in parentheses.
10 (83.3%)