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GP1BA

glycoprotein Ib platelet subunit alpha

HCNC Approved Symbol
GP1BA (HGNC:4439)
Genomic Coordinates
17:4,932,277 - 4,935,023 (17p13.2)
Synonyms
CD42b, GPIbalpha, GP1B
Disease Associations
This gene is associated with the following 4 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}
258660AR
Bernard-Soulier syndrome, type A1 (recessive)
231200AR
Bernard-Soulier syndrome, type A2 (dominant)
153670AD
von Willebrand disease, platelet-type
177820AD

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the GP1BA gene.

Frequently observed phenotypes

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

Thrombocytopenia
 1 (100.0%)