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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2563 315 0.010 None 1.000 1 2018 2018
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.010 None 1.000 1 2018 2018
CUI: C0542476
Disease: Forgetful
Forgetful 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 429 18 0.110 None 1.000 1 2019 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		disease Mental Disorders Mental or Behavioral Dysfunction 1071 331 0.010 None 1.000 1 2019 2019
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 123 10 0.010 None 1.000 1 2015 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2005 2005
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.010 None 1.000 1 2019 2019
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 312 42 0.010 None 1.000 1 2005 2005
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.010 None 1.000 1 2005 2005
CUI: C0162534
Disease: Prion Diseases
Prion Diseases 		group Infections; Nervous System Diseases Disease or Syndrome 175 67 0.100 None 1.000 1 1 2012 2012
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.010 None 1.000 1 2011 2011
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		phenotype Laboratory Procedure 145 234 0.100 None 1.000 1 1 2016 2016
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2016 2016
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		phenotype Laboratory Procedure 272 452 0.100 None 1.000 1 1 2016 2016
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype Finding 87 0.100 None 0
CUI: C1853934
Disease: Deposits immunoreactive to beta-amyloid protein
Deposits immunoreactive to beta-amyloid protein 		phenotype Finding 8 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 92 14 0.100 None 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		phenotype Finding 109 2 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.100 None 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease Finding 127 8 0.100 None 0
CUI: C4315130
Disease: Hippocampal atrophy
Hippocampal atrophy 		phenotype Finding 13 12 0.100 None 0
CUI: C0003537
Disease: Aphasia
Aphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 86 3 0.100 None 0