GP1BA, glycoprotein Ib platelet subunit alpha, 2811

N. diseases: 132; N. variants: 20
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: 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 1.000 None 1.000 31 7 1990 2020
Von Willebrand disease, platelet type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 2 0.800 strong 1.000 19 2 1991 2019
BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
disease Disease or Syndrome 2 2 0.600 None 1.000 1 2 2001 2001
Neonatal Alloimmune Thrombocytopenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 29 1 0.400 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 0.310 strong 1.000 2 2011 2018
CUI: C0040053
Disease: Thrombosis
Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 98 0.310 None 1.000 2 2007 2007
CUI: C3854603
Disease: FNAITP
FNAITP
disease Disease or Syndrome 12 2 0.310 None 1.000 1 2013 2013
CUI: C0087086
Disease: Thrombus
Thrombus
phenotype Cardiovascular Diseases Pathologic Function 46 0.300 None 1.000 1 2007 2007
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.300 None 1.000 1 2012 2012
CUI: C1319466
Disease: Barber Say syndrome
Barber Say syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 21 4 0.300 strong 1.000 1 2011 2011
NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO
phenotype Finding 1 0.300 None 0
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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.140 None 1.000 5 3 2012 2019
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.140 None 1.000 5 2 2012 2019
Nonarteritic anterior ischemic optic neuropathy (NAION)
disease Disease or Syndrome 22 6 0.120 None 1.000 2 2004 2019
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 3 3 2010 2016
Platelet mean volume determination (procedure)
phenotype Laboratory Procedure 223 371 0.100 None 1.000 2 2 2012 2016
Impaired ristocetin-induced platelet aggregation
phenotype Pathologic Function 6 1 0.100 None 1.000 1 1 2019 2019
CUI: C0019163
Disease: Hepatitis B
Hepatitis B
disease Digestive System Diseases; Infections Disease or Syndrome 1449 519 0.100 None 1.000 1 1 2011 2011
Platelet Component Distribution Width Measurement
phenotype Laboratory Procedure 134 200 0.100 None 1.000 1 2 2016 2016
CUI: C0596887
Disease: mathematical ability
mathematical ability
phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 15 1 0.100 None 0
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 501 26 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0