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: C1970344
Disease: Congenital Disorder Of Glycosylation, Type IIF
Congenital Disorder Of Glycosylation, Type IIF 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 3 0.610 None 1.000 4 3 2015 2018
CUI: C4016939
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4477009
Disease: Decreased platelet glycoprotein Ib
Decreased platelet glycoprotein Ib 		phenotype Finding 1 0.100 None 0
CUI: C4023146
Disease: Abnormal platelet granules
Abnormal platelet granules 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C0151701
Disease: Pulmonary hemorrhage
Pulmonary hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Pathologic Function 5 0.100 None 0
CUI: C0475713
Disease: Perinatal pulmonary hemorrhage
Perinatal pulmonary hemorrhage 		phenotype Pathologic Function 5 0.100 None 0
CUI: C4317224
Disease: Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type 1q 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 6 0.300 moderate 1.000 1 2005 2005
CUI: C0030442
Disease: Progressive bulbar palsy
Progressive bulbar palsy 		disease Nervous System Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2019 2019
CUI: C0333864
Disease: Giant platelet (morphologic abnormality)
Giant platelet (morphologic abnormality) 		phenotype Finding 10 0.100 None 0
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: C0027612
Disease: Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome; Congenital Abnormality 12 0.010 None 1.000 1 2005 2005
CUI: C0854107
Disease: Subcutaneous hemorrhage
Subcutaneous hemorrhage 		disease Skin and Connective Tissue Diseases Disease or Syndrome 16 0.100 None 0
CUI: C0270764
Disease: Motor Neuron Disease, Lower
Motor Neuron Disease, Lower 		disease Nervous System Diseases Disease or Syndrome 23 7 0.010 None 1.000 1 2018 2018
CUI: C0152115
Disease: Lingual-Facial-Buccal Dyskinesia
Lingual-Facial-Buccal Dyskinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 26 4 0.100 None 0
CUI: C2931826
Disease: Potassium aggravated myotonia
Potassium aggravated myotonia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 27 18 0.010 None 1.000 1 2017 2017
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 29 19 0.010 None 1.000 1 2018 2018
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.400 moderate 1.000 1 2018 2018
CUI: C0003028
Disease: Anhidrosis
Anhidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.010 None 1.000 1 1986 1986
CUI: C0007642
Disease: Cellulitis
Cellulitis 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases Pathologic Function 38 1 0.100 None 0
CUI: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time 		phenotype Finding 39 3 0.100 None 0
CUI: C1837402
Disease: Flat occiput
Flat occiput 		phenotype Finding 45 6 0.100 None 0
CUI: C1609524
Disease: ADHF
ADHF 		disease Disease or Syndrome 46 0.010 None 1.000 1 2019 2019
CUI: C0019080
Disease: Hemorrhage
Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 47 0.300 moderate 1.000 1 2018 2018
CUI: C0857175
Disease: Postinfarction
Postinfarction 		disease Disease or Syndrome 49 1 0.010 None 1.000 1 2017 2017