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: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle 		phenotype Anatomical Abnormality 17 0.100 None 0
CUI: C4021262
Disease: Absent palmar crease
Absent palmar crease 		phenotype Finding 9 0.100 None 0
CUI: C0085623
Disease: Akinesia
Akinesia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 43 3 0.100 None 0
CUI: C2228039
Disease: Ankle weakness
Ankle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 16 0.100 None 0
CUI: C0003578
Disease: Apnea
Apnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.010 None 1.000 1 2018 2018
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.100 None 1.000 1 1 2020 2020
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.020 None 1.000 2 2012 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.300 None 1.000 1 1998 1998
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.010 None 1.000 1 2019 2019
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2016 2016
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 1756 711 0.040 None 1.000 4 2008 2018
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 0
CUI: C0265783
Disease: Congenital hypoplasia of lung
Congenital hypoplasia of lung 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 175 6 0.100 None 0
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 1282 440 0.050 None 1.000 5 2008 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.060 None 1.000 6 2008 2018
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.050 None 1.000 5 2008 2018
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 725 80 0.100 None 0
CUI: C0010520
Disease: Cyanosis
Cyanosis 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 54 2 0.100 None 0
CUI: C0010964
Disease: Dandy-Walker Syndrome
Dandy-Walker Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 137 9 0.100 None 0
CUI: C1853952
Disease: Decreased miniature endplate potentials
Decreased miniature endplate potentials 		phenotype Finding 13 0.100 None 0
CUI: C4025615
Disease: Decreased size of nerve terminals
Decreased size of nerve terminals 		disease Anatomical Abnormality 15 0.100 None 0
CUI: C0344315
Disease: Depressed mood
Depressed mood 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2018 2018
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0