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: C3542549
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 1 4 0.700 None 1.000 4 4 2012 2016
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 0.310 None 1.000 2 2012 2016
CUI: C0338473
Disease: Neuroaxonal Dystrophies
Neuroaxonal Dystrophies 		group Nervous System Diseases Disease or Syndrome 7 1 0.310 None 1.000 1 2015 2015
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 75 37 0.310 None 1.000 1 2012 2012
CUI: C0751717
Disease: Juvenile Neuroaxonal Dystrophy
Juvenile Neuroaxonal Dystrophy 		disease Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2015 2015
CUI: C0751716
Disease: Adult Neuroaxonal Dystrophy
Adult Neuroaxonal Dystrophy 		disease Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2015 2015
CUI: C0751605
Disease: X-Linked, Spastic Paraplegia, Hereditary
X-Linked, Spastic Paraplegia, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 5 0.300 None 1.000 1 2012 2012
CUI: C0751604
Disease: Hereditary X-Linked Recessive Spastic Paraplegia
Hereditary X-Linked Recessive Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 0.300 None 1.000 1 2012 2012
CUI: C0751603
Disease: Autosomal Recessive Hereditary Spastic Paraplegia
Autosomal Recessive Hereditary Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 20 0.300 None 1.000 1 2012 2012
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 27 7 0.300 None 1.000 1 2012 2012
CUI: C4721916
Disease: HMSN Type V
HMSN Type V 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 0.300 None 1.000 1 2012 2012
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		disease Nervous System Diseases Disease or Syndrome 17 25 0.300 None 1.000 1 2015 2015
CUI: C0751718
Disease: Late Infantile Neuroaxonal Dystrophy
Late Infantile Neuroaxonal Dystrophy 		disease Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2015 2015
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 0.110 None 1.000 1 2016 2016
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		phenotype Laboratory Procedure 265 457 0.100 None 1.000 1 1 2016 2016
CUI: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy 		disease Disease or Syndrome 15 2 0.100 None 1.000 1 1 2014 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype Infections; Respiratory Tract Diseases Finding 318 7 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		phenotype Finding 103 4 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
CUI: C1853638
Disease: Broad neck
Broad neck 		phenotype Finding 22 10 0.100 None 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 17 0.100 None 0