Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
Neonatal Alloimmune Thrombocytopenia
disease 0.400 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia
disease 0.140 None 1.000 0 0 2012 2019
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype 0.140 None 1.000 0 0 2012 2019
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
Nonarteritic anterior ischemic optic neuropathy (NAION)
disease 0.120 None 1.000 0 0 2004 2019
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas
disease 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C1096367
Disease: Increased mean platelet volume
Increased mean platelet volume
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C0473237
Disease: Frank hematuria
Frank hematuria
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C0456909
Disease: Blindness
Blindness
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
Sensorineural hearing loss, bilateral
disease 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C1839167
Disease: Intermittent thrombocytopenia
Intermittent thrombocytopenia
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C4024630
Disease: Partially duplicated kidney
Partially duplicated kidney
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
Impaired ristocetin-induced platelet aggregation
phenotype 0.100 None 1.000 0 0 2019 2019
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
Decreased platelet glycoprotein Ib-IX-V
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C4023026
Disease: Abnormal megakaryocyte morphology
Abnormal megakaryocyte morphology
disease 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C4021646
Disease: Prolonged bleeding after surgery
Prolonged bleeding after surgery
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
Prolonged bleeding after dental extraction
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C3809715
Disease: Spontaneous, recurrent epistaxis
Spontaneous, recurrent epistaxis
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C2697501
Disease: Giant Platelet Count (procedure)
Giant Platelet Count (procedure)
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C2237512
Disease: cephalohematoma
cephalohematoma
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
Giant platelet (morphologic abnormality)
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C0018926
Disease: Hematemesis
Hematemesis
phenotype 0.100 None 0 0
Entrez Id: 2811
Gene Symbol: GP1BA
GP1BA
glycoprotein Ib platelet subunit alpha 0.565 0.692 3.2E-03
CUI: C0017565
Disease: Gingival Hemorrhage
Gingival Hemorrhage
phenotype 0.100 None 0 0