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: C0520966
Disease: Abnormal coordination
Abnormal coordination 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 59 4 0.100 None 0 1
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype Pathological Conditions, Signs and Symptoms Finding 70 10 0.100 None 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 0 1
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		phenotype Finding 49 1 0.100 None 0
CUI: C1832160
Disease: Abnormality of temperature regulation
Abnormality of temperature regulation 		phenotype Finding 19 3 0.100 None 0 1
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		disease Finding 127 8 0.100 None 0
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0
CUI: C4317146
Disease: Acid reflux
Acid reflux 		phenotype Finding 50 58 0.100 None 0 1
CUI: C0085281
Disease: Addictive Behavior
Addictive Behavior 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 332 56 0.010 None 1.000 1 2010 2010
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.300 None 1.000 1 2016 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 1.000 2 2005 2010
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome 1410 80 0.020 None 1.000 2 1 2015 2017
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.010 None 1.000 1 2004 2004
CUI: C1692886
Disease: Arthritis, Bacterial
Arthritis, Bacterial 		group Infections; Musculoskeletal Diseases Disease or Syndrome 34 0.010 None 1.000 1 2004 2004
CUI: C0003869
Disease: Arthritis, Infectious
Arthritis, Infectious 		group Infections; Musculoskeletal Diseases Disease or Syndrome 33 0.010 None 1.000 1 2004 2004
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.100 None 0
CUI: C4748872
Disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT 		disease Disease or Syndrome 1 2 0.400 None 1.000 1 2 2018 2018
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.010 None 1.000 1 2015 2015
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 0
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.100 None 0 1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 325 43 0.100 None 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.030 None 1.000 3 1 2011 2017