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: C1510431
Disease: Superficial Thrombophlebitis
Superficial Thrombophlebitis
disease Cardiovascular Diseases Disease or Syndrome 5 0.100 None 0
CUI: C0423757
Disease: Thin skin
Thin skin
phenotype Finding 77 4 0.100 None 0
CUI: C0034150
Disease: Purpura
Purpura
disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 68 1 0.100 None 0
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease Nervous System Diseases Disease or Syndrome 241 69 0.100 None 0
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism
disease Respiratory Tract Diseases; Cardiovascular Diseases Pathologic Function 93 16 0.100 None 0
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 84 4 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: C1867638
Disease: Warfarin-induced skin necrosis
Warfarin-induced skin necrosis
phenotype Finding 2 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C0017086
Disease: Gangrene
Gangrene
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 69 4 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation
phenotype Finding 58 5 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: C0042909
Disease: Vitreous Hemorrhage
Vitreous Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 12 0.100 None 0
Abnormality of the cerebral vasculature
disease Anatomical Abnormality 18 0.100 None 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype Anatomical Abnormality 56 29 0.100 None 0
CUI: C4553919
Disease: Superficial Thrombophlebitis, CTCAE
Superficial Thrombophlebitis, CTCAE
phenotype Finding 3 0.100 None 0
CUI: C0042485
Disease: Venous Insufficiency
Venous Insufficiency
disease Cardiovascular Diseases Disease or Syndrome 17 1 0.100 None 0
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1994 1995
CUI: C0162429
Disease: Malnutrition
Malnutrition
disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.020 None 1.000 2 1995 1995
CUI: C0272285
Disease: Heparin-induced thrombocytopenia
Heparin-induced thrombocytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 44 5 0.010 None 1.000 1 1995 1995
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia
disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.010 None 1.000 1 1996 1996
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune
group Immune System Diseases; Endocrine System Diseases Disease or Syndrome 166 21 0.010 None 1.000 1 1996 1996
CUI: C0866188
Disease: Renal thrombosis
Renal thrombosis
disease Disease or Syndrome 1 0.010 None 1.000 1 1996 1996
CUI: C0019880
Disease: Homocystinuria
Homocystinuria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 39 27 0.010 None 1.000 1 1996 1996
CUI: C0409980
Disease: Primary antiphospholipid syndrome
Primary antiphospholipid syndrome
disease Immune System Diseases Disease or Syndrome 29 1 0.010 None 1.000 1 1996 1996