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: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 118 3 0.600 0.917 14 2000 2018
CUI: C3809877
Disease: SCHAAF-YANG SYNDROME
SCHAAF-YANG SYNDROME
disease Disease or Syndrome 2 12 0.410 1.000 8 9 2013 2017
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 0.400 strong 4 2014 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.320 1.000 2 2014 2014
CUI: C0265222
Disease: Royer Syndrome
Royer Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 12 0.300 1 2014 2014
CUI: C0028754
Disease: Obesity
Obesity
disease Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1960 811 0.110 1.000 1 2013 2013
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 10 2 1993 2016
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia
phenotype Finding 30 0.100 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Finding 151 4 0.100 0
CUI: C1845112
Disease: Hyperkyphosis
Hyperkyphosis
phenotype Acquired Abnormality 156 0.100 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 102 3 0.100 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora
phenotype Finding 28 0.100 0
CUI: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation
phenotype Finding 20 1 0.100 0
CUI: C1850530
Disease: Flexion contractures of joints
Flexion contractures of joints
phenotype Anatomical Abnormality 134 0.100 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Finding 231 8 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C0566620
Disease: Nasal voice
Nasal voice
phenotype Finding 60 0.100 0
CUI: C0575802
Disease: Small hand
Small hand
phenotype Finding 64 2 0.100 0
CUI: C0700208
Disease: Acquired scoliosis
Acquired scoliosis
phenotype Acquired Abnormality 417 8 0.100 0
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 0.100 0
Attention deficit hyperactivity disorder
disease Mental Disorders Mental or Behavioral Dysfunction 411 202 0.100 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass
phenotype Finding 47 0.100 0
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype Finding 33 0.100 0
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation
phenotype Finding 30 0.100 0