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: C2676770
Disease: Birk-Barel Mental Retardation Dysmorphism Syndrome
Birk-Barel Mental Retardation Dysmorphism Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 1 0.730 None 1.000 4 1 2008 2020
CUI: C4317339
Disease: Juvenile Absence Epilepsy
Juvenile Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 13 3 0.310 None 1.000 2 2002 2005
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 89 17 0.310 None 1.000 1 2005 2005
CUI: C0001890
Disease: Akinetic Petit Mal
Akinetic Petit Mal 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2005 2005
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.300 None 1.000 1 2011 2011
CUI: C0751124
Disease: Epilepsy, Absence, Atypical
Epilepsy, Absence, Atypical 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2005 2005
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		disease Nervous System Diseases Disease or Syndrome 33 13 0.300 None 1.000 1 2005 2005
CUI: C4553705
Disease: Absence Seizure Disorder
Absence Seizure Disorder 		disease Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2005 2005
CUI: C4552765
Disease: Epilepsy, Minor
Epilepsy, Minor 		disease Nervous System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2005 2005
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.120 None 1.000 2 2008 2014
CUI: C1314691
Disease: Age at menarche
Age at menarche 		phenotype Behavior and Behavior Mechanisms Finding 267 591 0.100 None 1.000 2 2 2014 2019
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0813217
Disease: Expressionless face
Expressionless face 		phenotype Nervous System Diseases Finding 31 1 0.100 None 0
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		phenotype Finding 95 15 0.100 None 0
CUI: C1393871
Disease: Congenital finger flexion contractures
Congenital finger flexion contractures 		disease Congenital Abnormality 5 1 0.100 None 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype Finding 129 21 0.100 None 0
CUI: C1527344
Disease: Dysphonia
Dysphonia 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction 77 4 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0 1
CUI: C0426848
Disease: Sacral dimple
Sacral dimple 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 69 11 0.100 None 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype Finding 125 8 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 1263 112 0.100 None 0
CUI: C0343149
Disease: Contracture of joint of foot
Contracture of joint of foot 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Anatomical Abnormality 9 0.100 None 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 106 20 0.100 None 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype Finding 79 8 0.100 None 0