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.
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: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.400 moderate 1.000 1 2017 2017
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.400 moderate 1.000 1 2018 2018
Congenital Disorders of Glycosylation
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 102 38 0.320 moderate 1.000 2 2013 2016
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: C0019080
Disease: Hemorrhage
Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 47 0.300 moderate 1.000 1 2018 2018
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 68 1 0.100 None 0
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 160 7 0.100 None 0
CUI: C4551485
Disease: Clinodactyly
Clinodactyly
disease Congenital Abnormality 148 18 0.100 None 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished
phenotype Finding 89 11 0.100 None 0
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 78 19 0.100 None 0
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: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 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: C0151529
Disease: Prolonged bleeding time
Prolonged bleeding time
phenotype Finding 39 3 0.100 None 0
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.100 None 0
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.100 None 0
CUI: C0033687
Disease: Proteinuria
Proteinuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 239 20 0.100 None 0
CUI: C0475713
Disease: Perinatal pulmonary hemorrhage
Perinatal pulmonary hemorrhage
phenotype Pathologic Function 5 0.100 None 0
CUI: C0476273
Disease: Respiratory distress
Respiratory distress
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 259 16 0.100 None 0
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: C4023026
Disease: Abnormal megakaryocyte morphology
Abnormal megakaryocyte morphology
disease Finding 10 0.100 None 0
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF
phenotype Finding 1 1 0.100 None 0 1