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: C3151056
Disease: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 3 1 0.610 None 1.000 3 1 2011 2019
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 123 41 0.020 None 1.000 2 1 2013 2019
CUI: C4755264
Disease: Severe intellectual disability and progressive spastic paraplegia
Severe intellectual disability and progressive spastic paraplegia 		disease Disease or Syndrome 5 0.300 None 1.000 2 2011 2011
CUI: C0038506
Disease: Stuttering
Stuttering 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 34 8 0.110 None 1.000 1 2 2015 2015
CUI: C0751529
Disease: Stuttering, Developmental
Stuttering, Developmental 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 4 0.010 None 1.000 1 2 2015 2015
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 148 0.300 None 1.000 1 2011 2011
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.110 None 1.000 1 2011 2011
CUI: C3279743
Disease: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 3 4 0.010 None 1.000 1 2019 2019
CUI: C3489627
Disease: Stuttering, Familial Persistent 1
Stuttering, Familial Persistent 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 16 0.600 None 1.000 1 16 2015 2015
CUI: C0026918
Disease: Mycobacterium Infections
Mycobacterium Infections 		group Infections Disease or Syndrome 183 14 0.010 None 1.000 1 1 2013 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.300 None 1.000 1 2011 2011
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 142 2 0.300 None 1.000 1 2011 2011
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		disease Nervous System Diseases Disease or Syndrome 241 69 0.010 None 1.000 1 2011 2011
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 160 3 0.300 None 1.000 1 2011 2011
CUI: C1845272
Disease: Prominent antihelix
Prominent antihelix 		phenotype Finding 6 0.100 None 0
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 33 6 0.100 None 0
CUI: C1844505
Disease: Pointed chin
Pointed chin 		phenotype Finding 71 13 0.100 None 0
CUI: C1839798
Disease: Long nose
Long nose 		phenotype Finding 29 2 0.100 None 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 106 20 0.100 None 0
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype Finding 87 6 0.100 None 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		phenotype Finding 65 12 0.100 None 0
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		phenotype Finding 44 6 0.100 None 0
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.100 None 0
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		disease Musculoskeletal Diseases; Wounds and Injuries Anatomical Abnormality 128 16 0.100 None 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0