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: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 31 2 0.300 None 1.000 1 2015 2015
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease Disease or Syndrome 12 0.300 None 1.000 1 2015 2015
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		disease Respiratory Tract Diseases Congenital Abnormality 32 0.100 None 0
CUI: C3163801
Disease: Abnormality of aortic arch
Abnormality of aortic arch 		disease Finding 13 1 0.100 None 0
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		disease Anatomical Abnormality 50 2 0.100 None 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		group Anatomical Abnormality 96 4 0.100 None 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		disease Finding 40 0.100 None 0
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		disease Anatomical Abnormality 23 0.100 None 0
CUI: C4021797
Disease: Abnormality of the thorax
Abnormality of the thorax 		disease Anatomical Abnormality 40 5 0.100 None 0
CUI: C4021975
Disease: Abnormality of the tonsils
Abnormality of the tonsils 		disease Anatomical Abnormality 12 1 0.100 None 0
CUI: C0702166
Disease: Acne
Acne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 0.100 None 0
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 0.100 None 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 139 9 0.100 None 0
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.100 None 0
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 102 25 0.100 None 0
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 35 0.100 None 0
CUI: C0003864
Disease: Arthritis
Arthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1072 69 0.100 None 0
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.100 None 0
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 25 2 0.300 None 1.000 1 2015 2015
CUI: C0004144
Disease: Atelectasis
Atelectasis 		phenotype Respiratory Tract Diseases Pathologic Function 62 2 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 0.100 None 0
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
CUI: C0004368
Disease: Autoimmune state
Autoimmune state 		phenotype Pathologic Function 70 0.100 None 0
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.410 None 1.000 1 2011 2011