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: C0751740
Disease: Lenticulostriate Vasculopathy
Lenticulostriate Vasculopathy 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 1 0.100 None 1.000 1 1 2020 2020
CUI: C1969286
Disease: Hypoplastic distal radial epiphyses
Hypoplastic distal radial epiphyses 		phenotype Finding 1 0.100 None 0
CUI: C1969287
Disease: Expanded phalanges with widened medullary cavities
Expanded phalanges with widened medullary cavities 		phenotype Finding 1 0.100 None 0
CUI: C1969288
Disease: Expanded metacarpals with widened medullary cavities
Expanded metacarpals with widened medullary cavities 		phenotype Finding 1 0.100 None 0
CUI: C1969289
Disease: Expanded metatarsals with widened medullary cavities
Expanded metatarsals with widened medullary cavities 		phenotype Finding 1 0.100 None 0
CUI: C1969291
Disease: Aortic arch calcification
Aortic arch calcification 		phenotype Finding 1 0.100 None 0
CUI: C4025055
Disease: Hypoplasia of the tooth germ
Hypoplasia of the tooth germ 		phenotype Finding 1 0.100 None 0
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
AICARDI-GOUTIERES SYNDROME 7 		disease Disease or Syndrome 2 15 0.610 None 1.000 8 15 2014 2020
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		disease Disease or Syndrome 2 5 0.600 strong 1.000 3 5 2015 2017
CUI: C0025062
Disease: Mediastinal Emphysema
Mediastinal Emphysema 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 2 0.020 None 1.000 2 2018 2019
CUI: C0935560
Disease: Multiple disability
Multiple disability 		disease Disease or Syndrome 2 1 0.010 None 1.000 1 1 2020 2020
CUI: C0152084
Disease: Jaccoud's syndrome
Jaccoud's syndrome 		disease Infections; Musculoskeletal Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C0206744
Disease: T-Lymphocytopenia, Idiopathic CD4-Positive
T-Lymphocytopenia, Idiopathic CD4-Positive 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C0031887
Disease: Picornaviridae Infections
Picornaviridae Infections 		group Infections Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C0202083
Disease: Immunoglobulin A measurement
Immunoglobulin A measurement 		phenotype Laboratory Procedure 4 5 0.100 None 1.000 1 1 2010 2010
CUI: C0040458
Disease: Unerupted tooth
Unerupted tooth 		phenotype Stomatognathic Diseases Finding 5 1 0.100 None 0
CUI: C0276231
Disease: Duck viral enteritis
Duck viral enteritis 		disease Digestive System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2019 2019
CUI: C3489724
Disease: Aicardi-Goutieres Syndrome 2
Aicardi-Goutieres Syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 6 19 0.300 None 1.000 1 2014 2014
CUI: C0406645
Disease: Amyopathic dermatomyositis
Amyopathic dermatomyositis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 0.060 None 1.000 6 2009 2018
CUI: C0796126
Disease: AICARDI-GOUTIERES SYNDROME 1
AICARDI-GOUTIERES SYNDROME 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 7 26 0.300 None 1.000 1 2014 2014
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 7 3 0.300 None 1.000 1 2014 2014
CUI: C1856983
Disease: Increased CSF interferon alpha
Increased CSF interferon alpha 		phenotype Finding 7 0.100 None 0
CUI: C4024229
Disease: Chronic CSF lymphocytosis
Chronic CSF lymphocytosis 		phenotype Finding 7 0.100 None 0
CUI: C4072900
Disease: Increased serum interferon-gamma level
Increased serum interferon-gamma level 		phenotype Finding 7 0.100 None 0
CUI: C0432254
Disease: Singleton Merten syndrome
Singleton Merten syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome 8 1 0.690 strong 1.000 10 1 2015 2019