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: 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: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.460 None 1.000 8 2 1998 2020
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
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: 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
CUI: C2713537
Disease: Deficiency of Platelet Glycoprotein 1b
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: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.100 None 1.000 1 3 2019 2019
CUI: C0473237
Disease: Frank hematuria
Frank hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 9 1 0.100 None 0
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		phenotype Wounds and Injuries Finding 133 14 0.100 None 0
CUI: C4023154
Disease: Impaired ristocetin-induced platelet aggregation
Impaired ristocetin-induced platelet aggregation 		phenotype Pathologic Function 6 1 0.100 None 0
CUI: C1969572
Disease: Prolonged bleeding after dental extraction
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: C3809715
Disease: Spontaneous, recurrent epistaxis
Spontaneous, recurrent epistaxis 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom 11 1 0.100 None 0
CUI: C4024630
Disease: Partially duplicated kidney
Partially duplicated kidney 		phenotype Anatomical Abnormality 4 1 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
CUI: C4023150
Disease: Decreased platelet glycoprotein Ib-IX-V
Decreased platelet glycoprotein Ib-IX-V 		phenotype Finding 3 0.100 None 0
CUI: C0333864
Disease: Giant platelet (morphologic abnormality)
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
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0025323
Disease: Menorrhagia
Menorrhagia 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function 34 6 0.100 None 0
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group Nervous System Diseases Disease or Syndrome 512 264 0.100 None 0
CUI: C0018926
Disease: Hematemesis
Hematemesis 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom 14 1 0.100 None 0
CUI: C0017565
Disease: Gingival Hemorrhage
Gingival Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Pathologic Function 50 2 0.100 None 0
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 122 24 0.100 None 0