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.
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
disease Disease or Syndrome 1 12 0.600 7 12 2015 2018
Transposition of the Great Arteries, Dextro-Looped 1
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 5 4 0.600 1 4 2004 2004
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 0.580 strong 1.000 9 2004 2017
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 137 0.300 1 2012 2012
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 0.300 1 2012 2012
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.300 1 2012 2012
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 207 1 0.300 1 2017 2017
Discordant ventriculoarterial connection
disease Congenital Abnormality 28 1 0.150 1.000 5 2004 2017
Moderate mental retardation (I.Q. 35-49)
disease Mental or Behavioral Dysfunction 58 4 0.110 1.000 1 2015 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.110 1.000 1 2017 2017
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 1 1 2015 2015
CUI: C0005938
Disease: Bone Density
Bone Density
phenotype Clinical Attribute 109 849 0.100 1 1 2018 2018
CUI: C1853246
Disease: Everted lower lip vermilion
Everted lower lip vermilion
phenotype Finding 86 0.100 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Finding 231 8 0.100 0
CUI: C1855751
Disease: Bulbous nasal tip
Bulbous nasal tip
phenotype Finding 82 0.100 0
CUI: C1527347
Disease: Difficulty speaking
Difficulty speaking
phenotype Finding 72 0.100 0
CUI: C1850189
Disease: Large pinnae
Large pinnae
phenotype Finding 133 0.100 0
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Finding 75 2 0.100 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
phenotype Finding 61 1 0.100 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 24 1 0.100 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 104 0.100 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 276 3 0.100 0
CUI: C1835884
Disease: Triangular face
Triangular face
phenotype Finding 86 4 0.100 0
CUI: C1834118
Disease: Potato nose
Potato nose
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 82 0.100 0
CUI: C1856468
Disease: Round, full face
Round, full face
phenotype Finding 65 1 0.100 0