GP1BB, glycoprotein Ib platelet subunit beta, 2812

N. diseases: 192; N. variants: 7
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: C4087502
Disease: Giant platelet disorder
Giant platelet disorder 		disease Congenital Abnormality 1 0.010 None 1.000 1 1999 1999
CUI: C1856447
Disease: Bernard-Soulier Syndrome, Type B
Bernard-Soulier Syndrome, Type B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 2 0.100 None 0 2
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: C4023150
Disease: Decreased platelet glycoprotein Ib-IX-V
Decreased platelet glycoprotein Ib-IX-V 		phenotype Finding 3 0.100 None 0
CUI: C4024630
Disease: Partially duplicated kidney
Partially duplicated kidney 		phenotype Anatomical Abnormality 4 1 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: C0007722
Disease: Cephalhematoma due to birth trauma
Cephalhematoma due to birth trauma 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Wounds and Injuries Disease or Syndrome 7 0.100 None 0
CUI: C2237512
Disease: cephalohematoma
cephalohematoma 		phenotype Finding 7 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: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 0.310 None 1.000 1 2017 2017
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: C4024912
Disease: Occipital myelomeningocele
Occipital myelomeningocele 		disease Disease or Syndrome 9 0.100 None 0
CUI: C0333864
Disease: Giant platelet (morphologic abnormality)
Giant platelet (morphologic abnormality) 		phenotype Finding 10 0.100 None 0
CUI: C1096367
Disease: Increased mean platelet volume
Increased mean platelet volume 		phenotype Finding 10 2 0.100 None 0 1
CUI: C2697501
Disease: Giant Platelet Count (procedure)
Giant Platelet Count (procedure) 		phenotype Laboratory Procedure 10 0.100 None 0
CUI: C4023026
Disease: Abnormal megakaryocyte morphology
Abnormal megakaryocyte morphology 		disease Finding 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: C4021646
Disease: Prolonged bleeding after surgery
Prolonged bleeding after surgery 		phenotype Pathologic Function 11 0.100 None 0
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 12 19 0.010 None 1.000 1 1999 1999
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease Disease or Syndrome 12 0.300 None 0
CUI: C3854603
Disease: FNAITP
FNAITP 		disease Disease or Syndrome 12 2 0.300 None 0
CUI: C4021161
Disease: Multiple suture craniosynostosis
Multiple suture craniosynostosis 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 12 1 0.100 None 0
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils 		disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		disease Finding 13 1 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