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: C3554448
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 18
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 		disease Disease or Syndrome 1 15 0.700 strong 1.000 2 15 2013 2017
CUI: C4023678
Disease: Monocular strabismus
Monocular strabismus 		phenotype Eye Diseases; Nervous System Diseases Finding 2 2 0.100 None 0 1
CUI: C4727892
Disease: Gatad2b associated neurodevelopmental disorder
Gatad2b associated neurodevelopmental disorder 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 3 0.020 None 1.000 2 2018 2019
CUI: C0003079
Disease: Anisocoria
Anisocoria 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 7 5 0.100 None 0 1
CUI: C0424304
Disease: Inappropriate laughter
Inappropriate laughter 		phenotype Finding 7 2 0.100 None 0
CUI: C1835762
Disease: Widely-spaced maxillary central incisors
Widely-spaced maxillary central incisors 		phenotype Finding 7 1 0.100 None 0
CUI: C1838027
Disease: Incomprehensible speech
Incomprehensible speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 7 0.100 None 0
CUI: C4022873
Disease: Small pituitary gland
Small pituitary gland 		disease Anatomical Abnormality 7 4 0.100 None 0 1
CUI: C0795833
Disease: KLEEFSTRA SYNDROME 1
KLEEFSTRA SYNDROME 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 9 25 0.010 None 1.000 1 2017 2017
CUI: C4551771
Disease: Kleefstra syndrome
Kleefstra syndrome 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 9 11 0.010 None 1.000 1 2017 2017
CUI: C1847524
Disease: Hyperopic astigmatism
Hyperopic astigmatism 		disease Eye Diseases Disease or Syndrome 9 5 0.100 None 0
CUI: C0234853
Disease: Facial grimacing
Facial grimacing 		phenotype Finding 10 2 0.100 None 0
CUI: C1850630
Disease: Broad distal phalanx of finger
Broad distal phalanx of finger 		phenotype Finding 10 0.100 None 0
CUI: C4072908
Disease: Induced vaginal delivery
Induced vaginal delivery 		phenotype Pathologic Function 10 10 0.100 None 0 1
CUI: C1368920
Disease: Atypical Lobular Breast Hyperplasia
Atypical Lobular Breast Hyperplasia 		disease Neoplasms Neoplastic Process 11 0.010 None 1.000 1 1996 1996
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Finding 12 6 0.100 None 0 1
CUI: C0334381
Disease: Non-infiltrating lobular carcinoma
Non-infiltrating lobular carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 14 0.010 None 1.000 1 1996 1996
CUI: C0548883
Disease: Low frustration tolerance
Low frustration tolerance 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 14 0.100 None 0
CUI: C1834433
Disease: Obsessive-compulsive trait
Obsessive-compulsive trait 		phenotype Behavior and Behavior Mechanisms Finding 18 1 0.100 None 0
CUI: C3150613
Disease: Long toe
Long toe 		phenotype Finding 24 8 0.100 None 0
CUI: C0264611
Disease: Apraxia of Phonation
Apraxia of Phonation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 30 9 0.100 None 1.000 1 1 2017 2017
CUI: C0278076
Disease: Behavioral tic
Behavioral tic 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 31 2 0.100 None 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 0.100 None 0 1
CUI: C1858091
Disease: Long fingers
Long fingers 		phenotype Finding 32 6 0.100 None 0
CUI: C2675021
Disease: Narrow palpebral fissure
Narrow palpebral fissure 		phenotype Finding 34 3 0.100 None 0