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: C0423757
Disease: Thin skin
Thin skin 		phenotype Finding 77 4 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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0042485
Disease: Venous Insufficiency
Venous Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 17 1 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: C0042909
Disease: Vitreous Hemorrhage
Vitreous Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 12 0.100 None 0
CUI: C4022001
Disease: Abnormality of the cerebral vasculature
Abnormality of the cerebral vasculature 		disease Anatomical Abnormality 18 0.100 None 0
CUI: C1510431
Disease: Superficial Thrombophlebitis
Superficial Thrombophlebitis 		disease Cardiovascular Diseases Disease or Syndrome 5 0.100 None 0
CUI: C1867638
Disease: Warfarin-induced skin necrosis
Warfarin-induced skin necrosis 		phenotype Finding 2 0.100 None 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		phenotype Finding 58 5 0.100 None 0
CUI: C4553919
Disease: Superficial Thrombophlebitis, CTCAE
Superficial Thrombophlebitis, CTCAE 		phenotype Finding 3 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: C0017086
Disease: Gangrene
Gangrene 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 69 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: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		disease Respiratory Tract Diseases; Cardiovascular Diseases Pathologic Function 93 16 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 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: C0398625
Disease: Protein C Deficiency
Protein C Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 43 14 0.800 strong 1.000 27 8 1984 2020
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 19 14 0.050 None 1.000 5 1985 2005
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 41 0.600 strong 1.000 45 41 1987 2017
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 143 295 0.090 None 0.889 9 1988 2018
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 82 8 0.080 None 0.875 8 1988 2018
CUI: C2676759
Disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 12 0.700 strong 1.000 7 12 1992 2015
CUI: C0034341
Disease: Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 33 0.070 None 1.000 7 3 1993 2018
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 41 30 0.100 None 0.947 75 1994 2018