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: C0241880
Disease: Endometriosis of pelvis
Endometriosis of pelvis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 20 0.010 None 1.000 1 2009 2009
CUI: C0235986
Disease: Growth hormone excess
Growth hormone excess 		phenotype Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Finding 20 0.100 None 0
CUI: C0267176
Disease: Gastroparesis with diabetes mellitus
Gastroparesis with diabetes mellitus 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 21 0.010 None 1.000 1 2018 2018
CUI: C2265792
Disease: Skeletal muscle hypertrophy
Skeletal muscle hypertrophy 		phenotype Organ or Tissue Function 21 2 0.100 None 0
CUI: C0029417
Disease: Osteoblastoma
Osteoblastoma 		disease Neoplasms Neoplastic Process 22 0.030 None 1.000 3 2018 2020
CUI: C3889136
Disease: Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 		disease Disease or Syndrome 25 8 0.010 None 1.000 1 2008 2008
CUI: C1560305
Disease: Prolonged QTc interval
Prolonged QTc interval 		phenotype Pathologic Function 25 1 0.100 None 0
CUI: C1963217
Disease: Prolonged QTc Interval, CTCAE
Prolonged QTc Interval, CTCAE 		phenotype Finding 25 0.100 None 0
CUI: C0023804
Disease: Lipomatosis, Multiple Symmetrical
Lipomatosis, Multiple Symmetrical 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Neoplastic Process 28 2 0.010 None 1.000 1 2017 2017
CUI: C1836156
Disease: Progressive proximal muscle weakness
Progressive proximal muscle weakness 		phenotype Finding 28 3 0.100 None 0
CUI: C0149504
Disease: Encephalopathy, Toxic
Encephalopathy, Toxic 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 29 0.300 None 1.000 1 2009 2009
CUI: C0154659
Disease: Toxic Encephalitis
Toxic Encephalitis 		disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 29 0.300 None 1.000 1 2009 2009
CUI: C0598798
Disease: Lymphoid neoplasm
Lymphoid neoplasm 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 30 1 0.010 None 1.000 1 2018 2018
CUI: C1866241
Disease: Broad foot
Broad foot 		phenotype Musculoskeletal Diseases Finding 30 0.100 None 0
CUI: C4551838
Disease: Talipes transversoplanus
Talipes transversoplanus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 30 0.100 None 0
CUI: C0751217
Disease: Hyperkinesia, Generalized
Hyperkinesia, Generalized 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 32 0.300 None 1.000 1 2008 2008
CUI: C0235032
Disease: Neurotoxicity Syndromes
Neurotoxicity Syndromes 		group Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 34 0.300 None 1.000 1 2009 2009
CUI: C0238281
Disease: Middle Cerebral Artery Syndrome
Middle Cerebral Artery Syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0740376
Disease: Middle Cerebral Artery Thrombosis
Middle Cerebral Artery Thrombosis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0751845
Disease: Middle Cerebral Artery Embolus
Middle Cerebral Artery Embolus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0751846
Disease: Left Middle Cerebral Artery Infarction
Left Middle Cerebral Artery Infarction 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0751847
Disease: Embolic Infarction, Middle Cerebral Artery
Embolic Infarction, Middle Cerebral Artery 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0751848
Disease: Thrombotic Infarction, Middle Cerebral Artery
Thrombotic Infarction, Middle Cerebral Artery 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0751849
Disease: Right Middle Cerebral Artery Infarction
Right Middle Cerebral Artery Infarction 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0005937
Disease: Bone Cysts
Bone Cysts 		disease Neoplasms; Musculoskeletal Diseases Anatomical Abnormality 35 4 0.100 None 0