ITGA2B, integrin subunit alpha 2b, 3674

N. diseases: 215; N. variants: 36
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: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.100 None 0
CUI: C2237512
Disease: cephalohematoma
cephalohematoma 		phenotype Finding 7 0.100 None 0
CUI: C2697501
Disease: Giant Platelet Count (procedure)
Giant Platelet Count (procedure) 		phenotype Laboratory Procedure 10 0.100 None 0
CUI: C0025222
Disease: Melena
Melena 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 15 1 0.100 None 0
CUI: C3179396
Disease: Glanzmann Thrombasthenia, Type A
Glanzmann Thrombasthenia, Type A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.300 None 0
CUI: C0018965
Disease: Hematuria
Hematuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 235 31 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: 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
CUI: C0014591
Disease: Epistaxis
Epistaxis 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function 82 4 0.100 None 0
CUI: C0013491
Disease: Ecchymosis
Ecchymosis 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Pathologic Function 41 2 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: C1855853
Disease: Impaired platelet aggregation
Impaired platelet aggregation 		phenotype Finding 16 0.100 None 0
CUI: C1739105
Disease: Platelet anisocytosis
Platelet anisocytosis 		phenotype Pathologic Function 3 0.100 None 0
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: C0333864
Disease: Giant platelet (morphologic abnormality)
Giant platelet (morphologic abnormality) 		phenotype Finding 10 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: C0241144
Disease: Petechiae of skin
Petechiae of skin 		phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Sign or Symptom 54 2 0.100 None 0
CUI: C0232943
Disease: Intermenstrual heavy bleeding
Intermenstrual heavy bleeding 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Sign or Symptom 10 1 0.100 None 0
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 40 2 0.100 None 0
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		phenotype Finding 39 3 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: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas 		disease Disease or Syndrome 33 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