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: C3151753
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 		disease Disease or Syndrome 1 3 0.700 None 1.000 8 3 1985 2016
CUI: C1845095
Disease: DEAFNESS, X-LINKED 5 (disorder)
DEAFNESS, X-LINKED 5 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 17 0.700 definitive 1.000 6 17 2010 2017
CUI: C4304400
Disease: X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked hereditary sensory and autonomic neuropathy with deafness 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 definitive 1.000 6 2010 2017
CUI: C1970840
Disease: Leukoencephalopathy With Metaphyseal Chondrodysplasia
Leukoencephalopathy With Metaphyseal Chondrodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2017 2017
CUI: C1970887
Disease: Abnormal middle ear reflexes
Abnormal middle ear reflexes 		phenotype Finding 1 0.100 None 0
CUI: C4021991
Disease: Abnormality of the astrocytes
Abnormality of the astrocytes 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4280736
Disease: Large knee
Large knee 		phenotype Finding 1 0.100 None 0
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		disease Disease or Syndrome 2 5 0.010 None 1.000 1 2017 2017
CUI: C4274109
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C1836752
Disease: Abnormal speech discrimination
Abnormal speech discrimination 		phenotype Finding 2 0.100 None 0
CUI: C0795910
Disease: COWCHOCK SYNDROME
COWCHOCK SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 1 0.750 None 1.000 10 1 1985 2019
CUI: C1838180
Disease: CODAS syndrome
CODAS syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 4 12 0.010 None 1.000 1 2017 2017
CUI: C4022749
Disease: Abnormal brainstem MRI signal intensity
Abnormal brainstem MRI signal intensity 		phenotype Finding 5 0.100 None 0
CUI: C4023607
Disease: Abnormal corpus striatum morphology
Abnormal corpus striatum morphology 		phenotype Anatomical Abnormality 5 0.100 None 0
CUI: C1262037
Disease: Diabetic cystopathy
Diabetic cystopathy 		disease Disease or Syndrome 6 0.200 None 1.000 1 2010 2010
CUI: C4551551
Disease: X-linked hereditary motor and sensory neuropathy
X-linked hereditary motor and sensory neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2016 2016
CUI: C1838663
Disease: Enlargement of the wrists
Enlargement of the wrists 		phenotype Finding 8 0.100 None 0
CUI: C0393907
Disease: Axonal sensorimotor neuropathy
Axonal sensorimotor neuropathy 		disease Disease or Syndrome 9 2 0.020 None 1.000 2 2016 2018
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		disease Nervous System Diseases Disease or Syndrome 12 16 0.030 None 1.000 3 2007 2017
CUI: C0393574
Disease: Huntington Disease, Late Onset
Huntington Disease, Late Onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 12 0.300 None 1.000 1 2003 2003
CUI: C0751207
Disease: Akinetic-Rigid Variant of Huntington Disease
Akinetic-Rigid Variant of Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 12 0.300 None 1.000 1 2003 2003
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 12 0.300 None 1.000 1 2003 2003
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 12 3 0.010 None 1.000 1 2007 2007
CUI: C1865384
Disease: Amyotrophy, monomelic
Amyotrophy, monomelic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 15 2 0.010 None 1.000 1 2010 2010
CUI: C0393541
Disease: Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 16 8 0.010 None 1.000 1 1999 1999