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: 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 0.410 strong 1.000 2 2017 2018
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 62 109 0.310 1.000 1 2017 2017
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.110 1.000 1 2018 2018
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 459 34 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 499 33 0.100 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
phenotype Finding 52 6 0.100 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality
group Finding 194 2 0.100 0
CUI: C1836047
Disease: Long face
Long face
phenotype Finding 107 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
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing
phenotype Finding 49 0.100 0
CUI: C4539937
Disease: JOUBERT SYNDROME 30
JOUBERT SYNDROME 30
disease Disease or Syndrome 1 8 0.100 2 8 2015 2017
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C0003578
Disease: Apnea
Apnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 74 1 0.100 0
CUI: C4280532
Disease: Decreased width of the skull
Decreased width of the skull
phenotype Finding 49 0.100 0
Defective or absent horizontal voluntary eye movements
phenotype Finding 48 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 564 52 0.100 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea
phenotype Finding 22 0.100 0
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia
disease Behavior and Behavior Mechanisms; Cardiovascular Diseases; Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 55 4 0.100 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 232 1 0.100 0
CUI: C0423903
Disease: Low intelligence
Low intelligence
phenotype Finding 946 0.100 0
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome 110 67 0.020 1.000 2 2009 2013