GP9, glycoprotein IX platelet, 2815

N. diseases: 46; N. variants: 9
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time
phenotype Finding 39 3 0.100 None 0
Giant platelet (morphologic abnormality)
phenotype Finding 10 0.100 None 0
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas
disease Disease or Syndrome 33 0.100 None 0
Prolonged bleeding after dental extraction
phenotype Pathologic Function 8 0.100 None 0
CUI: C2697501
Disease: Giant Platelet Count (procedure)
Giant Platelet Count (procedure)
phenotype Laboratory Procedure 10 0.100 None 0
CUI: C4021646
Disease: Prolonged bleeding after surgery
Prolonged bleeding after surgery
phenotype Pathologic Function 11 0.100 None 0
CUI: C4023026
Disease: Abnormal megakaryocyte morphology
Abnormal megakaryocyte morphology
disease Finding 10 0.100 None 0
Decreased platelet glycoprotein Ib-IX-V
phenotype Finding 3 0.100 None 0
Impaired ristocetin-induced platelet aggregation
phenotype Pathologic Function 6 1 0.100 None 0
CUI: C4024630
Disease: Partially duplicated kidney
Partially duplicated kidney
phenotype Anatomical Abnormality 4 1 0.100 None 0
CUI: C1696708
Disease: Prehypertension
Prehypertension
disease Cardiovascular Diseases Disease or Syndrome 41 5 0.010 None 1.000 1 2015 2015
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 46 23 0.800 definitive 0.981 52 6 1983 2019
CUI: C1856448
Disease: Bernard-Soulier Syndrome, Type C
Bernard-Soulier Syndrome, Type C
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 6 0.410 strong 1.000 1 6 2019 2019
Neonatal Alloimmune Thrombocytopenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 29 1 0.010 None 1.000 1 2017 2017
Deficiency of Platelet Glycoprotein 1b
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.300 None 0
CUI: C1857941
Disease: Brooke-Spiegler syndrome
Brooke-Spiegler syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Disease or Syndrome 45 8 0.300 strong 1.000 1 2011 2011
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.460 None 1.000 8 2 1998 2020
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders
group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.040 None 1.000 4 1998 2010
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders
group Hemic and Lymphatic Diseases Disease or Syndrome 59 5 0.030 None 1.000 3 1 2012 2019
Thrombocytopenia due to platelet alloimmunization
disease Hemic and Lymphatic Diseases Disease or Syndrome 111 7 0.020 None 1.000 2 1998 2020
Drug-induced immune thrombocytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome
disease Hemic and Lymphatic Diseases Neoplastic Process 335 20 0.010 None 1.000 1 2012 2012
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.100 None 1.000 1 3 2019 2019
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 1033 95 0.010 None 1.000 1 2012 2012
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
disease Hemic and Lymphatic Diseases Neoplastic Process 332 20 0.010 None 1.000 1 2012 2012