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: C0001529
Disease: Adiposis Dolorosa
Adiposis Dolorosa 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
CUI: C3887525
Disease: Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratosis Follicularis Spinulosa Decalvans, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 2 1 0.020 None 1.000 2 2002 2014
CUI: C0343057
Disease: Keratosis pilaris decalvans
Keratosis pilaris decalvans 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 3 0.320 None 1.000 2 2002 2014
CUI: C1839988
Disease: Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis follicularis atrichia photophobia syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 3 7 0.010 None 1.000 1 2014 2014
CUI: C2748527
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder)
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, AUTOSOMAL DOMINANT (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2002 2002
CUI: C2609071
Disease: Olmsted syndrome
Olmsted syndrome 		disease Disease or Syndrome 5 3 0.010 None 1.000 1 2014 2014
CUI: C0020498
Disease: Hyperostosis, Diffuse Idiopathic Skeletal
Hyperostosis, Diffuse Idiopathic Skeletal 		disease Musculoskeletal Diseases Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C0020875
Disease: Ileal Diseases
Ileal Diseases 		group Digestive System Diseases Disease or Syndrome 14 7 0.010 None 1.000 1 2019 2019
CUI: C1524032
Disease: Depression and Suicide
Depression and Suicide 		disease Mental or Behavioral Dysfunction 15 2 0.020 None 1.000 2 2006 2015
CUI: C3899403
Disease: Decreased Concentration
Decreased Concentration 		phenotype Sign or Symptom 27 1 0.010 None 1.000 1 2018 2018
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Acquired Abnormality 30 4 0.010 None 1.000 1 2012 2012
CUI: C0014078
Disease: Venezuelan equine encephalomyelitis
Venezuelan equine encephalomyelitis 		disease Infections; Nervous System Diseases Disease or Syndrome 34 0.010 None 1.000 1 2002 2002
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome 41 14 0.010 None 1.000 1 2018 2018
CUI: C0023484
Disease: Leukemia, Plasma Cell
Leukemia, Plasma Cell 		disease Neoplasms; Immune System Diseases Neoplastic Process 47 0.010 None 1.000 1 2009 2009
CUI: C0020500
Disease: Hyperoxaluria
Hyperoxaluria 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 49 3 0.010 None 1.000 1 2011 2011
CUI: C0016514
Disease: Foot-and-Mouth Disease
Foot-and-Mouth Disease 		group Infections; Animal Diseases Disease or Syndrome 56 0.030 None 1.000 3 2017 2019
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 56 63 0.010 None 1.000 1 1999 1999
CUI: C1701940
Disease: Pneumonia, Ventilator-Associated
Pneumonia, Ventilator-Associated 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 56 3 0.010 None 1.000 1 2018 2018
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 57 21 0.010 None 1.000 1 2002 2002
CUI: C0014061
Disease: Tick-Borne Encephalitis
Tick-Borne Encephalitis 		disease Infections; Nervous System Diseases Disease or Syndrome 59 9 0.010 None 1.000 1 2002 2002
CUI: C0345958
Disease: Large cell carcinoma of lung
Large cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 67 7 0.010 None 1.000 1 1991 1991
CUI: C0276275
Disease: Disease due to Parvoviridae
Disease due to Parvoviridae 		disease Infections Disease or Syndrome 71 2 0.010 None 1.000 1 2008 2008
CUI: C2931618
Disease: Gestational trophoblastic disease
Gestational trophoblastic disease 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 75 0.010 None 1.000 1 2019 2019
CUI: C0815107
Disease: psychological distress
psychological distress 		disease Mental or Behavioral Dysfunction 87 10 0.010 None 1.000 1 2009 2009
CUI: C0438696
Disease: Suicidal
Suicidal 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 93 29 0.020 None 1.000 2 2009 2016