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: 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: 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: 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: 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: C0338473
Disease: Neuroaxonal Dystrophies
Neuroaxonal Dystrophies 		group Nervous System Diseases Disease or Syndrome 7 1 0.310 None 1.000 1 2015 2015
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: 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: C1853959
Disease: Birdshot chorioretinopathy
Birdshot chorioretinopathy 		disease Disease or Syndrome 15 2 0.100 None 1.000 1 1 2014 2014
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: 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: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 22 42 0.010 None 1.000 1 2015 2015
CUI: C1853638
Disease: Broad neck
Broad neck 		phenotype Finding 22 10 0.100 None 0
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: C0259749
Disease: Autonomic neuropathy
Autonomic neuropathy 		disease Nervous System Diseases Disease or Syndrome 29 7 0.010 None 1.000 1 2016 2016
CUI: C0813217
Disease: Expressionless face
Expressionless face 		phenotype Nervous System Diseases Finding 31 1 0.100 None 0
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 52 46 0.010 None 1.000 1 2016 2016
CUI: C0231687
Disease: Spastic gait
Spastic gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 62 9 0.100 None 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		phenotype Finding 71 17 0.100 None 0
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: C0040433
Disease: Tooth Crowding
Tooth Crowding 		phenotype Stomatognathic Diseases Finding 82 19 0.100 None 0
CUI: C0239479
Disease: Round face
Round face 		phenotype Finding 88 3 0.100 None 0
CUI: C1866231
Disease: Full cheeks
Full cheeks 		phenotype Finding 103 4 0.100 None 0
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		disease Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 122 17 0.100 None 0
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