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: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 2 15 0.500 1 15 2016 2016
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 0.500 strong 1 2012 2012
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 125 21 0.310 strong 1.000 1 2013 2013
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: 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: 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
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 1 0.300 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 234 3 0.300 strong 0
Severe mental retardation (I.Q. 20-34)
disease Mental or Behavioral Dysfunction 223 19 0.110 1.000 1 2011 2011
CUI: C4020873
Disease: Infratentorial atrophy
Infratentorial atrophy
disease Disease or Syndrome 166 8 0.100 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Finding 151 4 0.100 0
CUI: C1845272
Disease: Prominent antihelix
Prominent antihelix
phenotype Finding 6 0.100 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia
phenotype Finding 13 0.100 0
CUI: C1844505
Disease: Pointed chin
Pointed chin
phenotype Finding 49 3 0.100 0
CUI: C1839798
Disease: Long nose
Long nose
phenotype Finding 23 0.100 0
CUI: C1839764
Disease: Broad flat nasal bridge
Broad flat nasal bridge
phenotype Finding 329 0.100 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
phenotype Finding 61 1 0.100 0
CUI: C1837463
Disease: Narrow face
Narrow face
phenotype Finding 62 0.100 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass
phenotype Finding 47 0.100 0
CUI: C1849121
Disease: Thin face
Thin face
phenotype Finding 62 0.100 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 332 4 0.100 0
CUI: C4280646
Disease: Atony of facial musculature
Atony of facial musculature
phenotype Finding 13 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C1850530
Disease: Flexion contractures of joints
Flexion contractures of joints
phenotype Anatomical Abnormality 134 0.100 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding)
phenotype Finding 203 5 0.100 0