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: C3550913
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 32
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 		disease Disease or Syndrome 1 1 0.700 2 1 2011 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.310 strong 1.000 2 1 2013 2015
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 252 7 0.300 moderate 1 2013 2013
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		disease Digestive System Diseases Experimental Model of Disease 800 0.300 1 2015 2015
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 883 65 0.110 1.000 1 1 2013 2013
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.110 1.000 1 1 2013 2013
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation 		phenotype Pathologic Function 1020 151 0.100 0
CUI: C1850189
Disease: Large pinnae
Large pinnae 		phenotype Finding 133 0.100 0
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Finding 81 12 0.100 0
CUI: C1859698
Disease: Contractures of the large joints
Contractures of the large joints 		phenotype Finding 5 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay 		phenotype Finding 965 0.100 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		disease Mental or Behavioral Dysfunction 60 0.100 0
CUI: C1263023
Disease: Macroorchidism
Macroorchidism 		disease Finding 9 0.100 0
CUI: C0746940
Disease: Nonverbal
Nonverbal 		phenotype Finding 75 0.100 0
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1176 147 0.100 0
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Finding 158 0.100 0
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 814 91 0.100 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.100 0
CUI: C0152421
Disease: Macrotia
Macrotia 		disease Congenital Abnormality 133 0.100 0
CUI: C0554972
Disease: Large auricle
Large auricle 		phenotype Finding 133 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C1720983
Disease: Channelopathies
Channelopathies 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 55 4 0.010 1.000 1 2013 2013
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 387 121 0.010 1.000 1 2015 2015
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 287 216 0.010 1.000 1 1 2013 2013