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: C0039273
Disease: Talipes cavus
Talipes cavus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		disease Anatomical Abnormality 32 6 0.100 None 0
CUI: C4025660
Disease: Abnormality of the ankles
Abnormality of the ankles 		disease Anatomical Abnormality 17 1 0.100 None 0 1
CUI: C4025704
Disease: Abnormality of the corticospinal tract
Abnormality of the corticospinal tract 		phenotype Anatomical Abnormality 5 0.100 None 0
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		disease Anatomical Abnormality 20 1 0.100 None 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 56 29 0.100 None 0
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.200 None 1.000 25 2001 2019
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 15 0.800 strong 1.000 17 14 2001 2018
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		disease Nervous System Diseases Disease or Syndrome 186 52 0.100 None 1.000 15 2003 2018
CUI: C1859807
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 25 10 0.700 None 1.000 14 7 1999 2016
CUI: C1853396
Disease: Primary lateral sclerosis juvenile
Primary lateral sclerosis juvenile 		disease Nervous System Diseases Disease or Syndrome 2 5 0.760 strong 1.000 10 5 2001 2018
CUI: C3468114
Disease: Juvenile amyotrophic lateral sclerosis
Juvenile amyotrophic lateral sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 20 1 0.390 None 1.000 10 2002 2018
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 0.030 None 1.000 3 1 2007 2015
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 167 37 0.030 None 0.667 3 2014 2018
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		disease Disease or Syndrome 138 21 0.030 None 1.000 3 1 2006 2009
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
Amyotrophic Lateral Sclerosis, Familial 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 130 68 0.030 None 1.000 3 1998 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.020 None 1.000 2 2004 2019
CUI: C0154682
Disease: Lateral Sclerosis
Lateral Sclerosis 		disease Nervous System Diseases Disease or Syndrome 19 1 0.020 None 1.000 2 2008 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.020 None 1.000 2 2007 2008
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.010 None 1.000 1 2008 2008
CUI: C0030360
Disease: Papillon-Lefevre Disease
Papillon-Lefevre Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 29 19 0.010 None 1.000 1 2019 2019
CUI: C0030486
Disease: Paraplegia
Paraplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 59 0.010 None 1.000 1 2003 2003
CUI: C0030552
Disease: Paresis
Paresis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 216 49 0.010 None 1.000 1 2006 2006
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.010 None 1.000 1 2016 2016
CUI: C0393556
Disease: Complicated hereditary spastic paraplegia
Complicated hereditary spastic paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2006 2006