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: C1848199
Disease: X-Linked Lissencephaly
X-Linked Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2000 2000
CUI: C3698239
Disease: Cerebral cortex myoclonus
Cerebral cortex myoclonus 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 14 1 0.010 None 1.000 1 2019 2019
CUI: C4025320
Disease: Craniofacial asymmetry
Craniofacial asymmetry 		disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 16 0.010 None 1.000 1 2017 2017
CUI: C0036429
Disease: Sclerosis
Sclerosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 24 0.010 None 1.000 1 2007 2007
CUI: C0234213
Disease: Sensory denervation disorder
Sensory denervation disorder 		phenotype Sign or Symptom 29 0.010 None 1.000 1 2018 2018
CUI: C0013589
Disease: Ectromelia
Ectromelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 30 0.010 None 1.000 1 2018 2018
CUI: C0920296
Disease: Developmental reading disorder
Developmental reading disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 33 32 0.010 None 1.000 1 2009 2009
CUI: C0457334
Disease: Acute monoblastic leukemia
Acute monoblastic leukemia 		disease Neoplasms Neoplastic Process 37 5 0.010 None 1.000 1 2002 2002
CUI: C0037354
Disease: Smallpox
Smallpox 		disease Infections Disease or Syndrome 39 0.010 None 1.000 1 2018 2018
CUI: C3711376
Disease: Isodicentric Chromosome 15 Syndrome
Isodicentric Chromosome 15 Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 39 0.010 None 1.000 1 2003 2003
CUI: C0010418
Disease: Cryptosporidiosis
Cryptosporidiosis 		disease Digestive System Diseases; Infections; Animal Diseases Disease or Syndrome 40 0.010 None 1.000 1 2012 2012
CUI: C0014740
Disease: Erythema Chronicum Migrans
Erythema Chronicum Migrans 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 41 0.010 None 1.000 1 1998 1998
CUI: C1527358
Disease: Phototoxicity
Phototoxicity 		disease Skin and Connective Tissue Diseases Disease or Syndrome 52 0.010 None 1.000 1 2018 2018
CUI: C0017677
Disease: Glossitis, Benign Migratory
Glossitis, Benign Migratory 		disease Stomatognathic Diseases Disease or Syndrome 53 1 0.010 None 1.000 1 1998 1998
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 56 17 0.010 None 1.000 1 2014 2014
CUI: C0242381
Disease: Lyme Arthritis
Lyme Arthritis 		disease Infections Disease or Syndrome 57 0.010 None 1.000 1 1998 1998
CUI: C0030524
Disease: Paratuberculosis
Paratuberculosis 		disease Infections; Animal Diseases Disease or Syndrome 61 6 0.010 None 1.000 1 2000 2000
CUI: C0752308
Disease: Hypoxia-Ischemia, Brain
Hypoxia-Ischemia, Brain 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 81 0.200 None 1.000 1 2015 2015
CUI: C0035920
Disease: Rubella
Rubella 		disease Infections Disease or Syndrome 82 11 0.010 None 1.000 1 2017 2017
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		disease Disease or Syndrome 84 14 0.010 None 1.000 1 2006 2006
CUI: C0162830
Disease: Dermatitis, Phototoxic
Dermatitis, Phototoxic 		disease Skin and Connective Tissue Diseases Disease or Syndrome 89 0.010 None 1.000 1 2018 2018
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma 		disease Neoplasms Neoplastic Process 91 7 0.010 None 1.000 1 2004 2004
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy 		disease Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 100 24 0.010 None 1.000 1 2001 2001
CUI: C0270549
Disease: Generalized Anxiety Disorder
Generalized Anxiety Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 103 24 0.010 None 1.000 1 2018 2018
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 104 12 0.010 None 1.000 1 2008 2008