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: C2608087
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB 		disease Nervous System Diseases Disease or Syndrome 1 17 0.700 strong 1.000 13 17 2004 2017
CUI: C0920193
Disease: Photodermatosis
Photodermatosis 		disease Disease or Syndrome 4 0.010 None 1.000 1 2019 2019
CUI: C2044987
Disease: Cervical Glandular Intraepithelial Neoplasia
Cervical Glandular Intraepithelial Neoplasia 		disease Neoplasms Neoplastic Process 4 0.010 None < 0.001 1 2005 2005
CUI: C4025696
Disease: Paresis of extensor muscles of the big toe
Paresis of extensor muscles of the big toe 		phenotype Finding 4 0.100 None 0
CUI: C1854023
Disease: Spinal muscular atrophy, Jerash type
Spinal muscular atrophy, Jerash type 		disease Nervous System Diseases Disease or Syndrome 5 5 0.300 None 1.000 1 2004 2004
CUI: C1854657
Disease: Limb fasciculations
Limb fasciculations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.100 None 0
CUI: C4021578
Disease: Chronic axonal neuropathy
Chronic axonal neuropathy 		disease Disease or Syndrome 5 0.100 None 0
CUI: C1847823
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 15 0.760 strong 1.000 30 15 2004 2018
CUI: C0332983
Disease: Malassez' epithelial rests
Malassez' epithelial rests 		disease Congenital Abnormality 6 0.010 None 1.000 1 2002 2002
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 6 5 0.010 None 1.000 1 2005 2005
CUI: C0749870
Disease: Upper motor neuron signs
Upper motor neuron signs 		phenotype Sign or Symptom 7 1 0.010 None 1.000 1 2008 2008
CUI: C3711384
Disease: Distal Hereditary Motor Neuropathy, Type II
Distal Hereditary Motor Neuropathy, Type II 		disease Nervous System Diseases Disease or Syndrome 8 2 0.320 None 1.000 3 2004 2017
CUI: C0858009
Disease: Mumps virus infection
Mumps virus infection 		disease Disease or Syndrome 8 0.010 None 1.000 1 2003 2003
CUI: C4021222
Disease: Impaired temperature sensation
Impaired temperature sensation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 8 0.100 None 0
CUI: C0278511
Disease: Osteosarcoma localised
Osteosarcoma localised 		disease Neoplasms Neoplastic Process 9 0.010 None 1.000 1 2018 2018
CUI: C0392553
Disease: Hereditary peripheral neuropathy
Hereditary peripheral neuropathy 		disease Nervous System Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 1 2013 2013
CUI: C4021523
Disease: Upper limb amyotrophy
Upper limb amyotrophy 		disease Disease or Syndrome 9 0.100 None 0
CUI: C4025799
Disease: Ulnar claw
Ulnar claw 		disease Musculoskeletal Diseases Congenital Abnormality 9 0.100 None 0
CUI: C0238113
Disease: Radiation esophagitis
Radiation esophagitis 		disease Digestive System Diseases; Wounds and Injuries Disease or Syndrome 10 2 0.010 None 1.000 1 2019 2019
CUI: C3697716
Disease: Acute flaccid paralysis
Acute flaccid paralysis 		phenotype Sign or Symptom 10 0.010 None 1.000 1 2011 2011
CUI: C3544266
Disease: Hepatobiliary cancer
Hepatobiliary cancer 		disease Neoplastic Process 11 1 0.010 None 1.000 1 2015 2015
CUI: C3661519
Disease: Hereditary Motor Neuronopathy
Hereditary Motor Neuronopathy 		disease Nervous System Diseases Disease or Syndrome 12 1 0.020 None 1.000 2 2006 2009
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		disease Nervous System Diseases Disease or Syndrome 12 16 0.010 None 1.000 1 2007 2007
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: C0221500
Disease: Effects of heat
Effects of heat 		phenotype Disease or Syndrome 13 0.010 None 1.000 1 1997 1997