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: C0456097
Disease: Congenital viral disease
Congenital viral disease 		group Infections Disease or Syndrome 1 0.030 None 1.000 3 2011 2015
CUI: C3280721
Disease: CHILBLAIN LUPUS 2
CHILBLAIN LUPUS 2 		disease Disease or Syndrome 1 1 0.700 strong 1.000 2 1 2009 2011
CUI: C2749659
Disease: AICARDI-GOUTIERES SYNDROME 5 (disorder)
AICARDI-GOUTIERES SYNDROME 5 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Nervous System Diseases Disease or Syndrome 2 22 0.700 None 1.000 18 22 2009 2018
CUI: C1856979
Disease: Deep white matter hypodensities
Deep white matter hypodensities 		phenotype Finding 2 0.100 None 0
CUI: C1865361
Disease: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES 		disease Musculoskeletal Diseases Disease or Syndrome 3 3 0.010 None 1.000 1 2017 2017
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 4 1 0.300 None 1.000 1 2015 2015
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 2013 2013
CUI: C0024145
Disease: Chilblain lupus 1
Chilblain lupus 1 		disease Skin and Connective Tissue Diseases; Wounds and Injuries Disease or Syndrome 7 9 0.300 None 1.000 1 2017 2017
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 2013 2013
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 2013 2013
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: C4022417
Disease: Degeneration of the striatum
Degeneration of the striatum 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 9 0.100 None 0
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 2019 2019
CUI: C1833434
Disease: Multifocal cerebral white matter abnormalities
Multifocal cerebral white matter abnormalities 		phenotype Pathological Conditions, Signs and Symptoms Finding 10 0.100 None 0
CUI: C4023169
Disease: Moyamoya phenomenon
Moyamoya phenomenon 		disease Disease or Syndrome 10 0.100 None 0
CUI: C1852470
Disease: Extrapyramidal muscular rigidity
Extrapyramidal muscular rigidity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 11 0.100 None 0
CUI: C0008058
Disease: Chilblains
Chilblains 		disease Wounds and Injuries Disease or Syndrome 12 4 0.110 None 1.000 1 2010 2010
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		disease Anatomical Abnormality 13 0.100 None 0
CUI: C1844662
Disease: Unexplained fevers
Unexplained fevers 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 4 0.100 None 0
CUI: C0237849
Disease: Peeling of skin
Peeling of skin 		phenotype Finding 21 0.100 None 0
CUI: C1096249
Disease: Calcification of the aorta
Calcification of the aorta 		phenotype Pathologic Function 21 0.100 None 0
CUI: C1389280
Disease: Basal ganglia calcification
Basal ganglia calcification 		phenotype Pathologic Function 22 3 0.100 None 0
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 25 5 0.100 None 0