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: C4321359
Disease: Reduced insulin like growth factor binding protein acid labile subunit level
Reduced insulin like growth factor binding protein acid labile subunit level 		phenotype Finding 1 0.100 None 0
CUI: C3900122
Disease: Acid-Labile Subunit Deficiency
Acid-Labile Subunit Deficiency 		disease Laboratory or Test Result 2 7 0.700 None 1.000 12 7 2004 2016
CUI: C3151343
Disease: SPINOCEREBELLAR ATAXIA 32
SPINOCEREBELLAR ATAXIA 32 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2016 2016
CUI: C1864570
Disease: Insulin insensitivity
Insulin insensitivity 		phenotype Finding 2 0.100 None 0
CUI: C0032586
Disease: Polyradiculopathy
Polyradiculopathy 		disease Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C0349390
Disease: Non-fluent aphasia
Non-fluent aphasia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2015 2015
CUI: C1837728
Disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)
AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 2 0.010 None < 0.001 1 2014 2014
CUI: C1848922
Disease: Hexosaminidase alpha-Subunit Deficiency (Variant B)
Hexosaminidase alpha-Subunit Deficiency (Variant B) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2001 2001
CUI: C1850406
Disease: NAVAJO NEUROHEPATOPATHY
NAVAJO NEUROHEPATOPATHY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 28 0.010 None < 0.001 1 2012 2012
CUI: C2146481
Disease: Bilateral vocal cord paralysis
Bilateral vocal cord paralysis 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 2 0.010 None 1.000 1 2011 2011
CUI: C0282550
Disease: Persian Gulf Syndrome
Persian Gulf Syndrome 		disease Occupational Diseases Disease or Syndrome 5 0.010 None 1.000 1 2006 2006
CUI: C0917814
Disease: Aphasia, Expressive
Aphasia, Expressive 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 5 1 0.010 None 1.000 1 2015 2015
CUI: C3825276
Disease: Stereotyped behavior (Psychiatry)
Stereotyped behavior (Psychiatry) 		disease Mental or Behavioral Dysfunction 5 1 0.010 None 1.000 1 2019 2019
CUI: C1835580
Disease: Mild postnatal growth retardation
Mild postnatal growth retardation 		phenotype Finding 6 0.100 None 0
CUI: C0393547
Disease: Bulbospinal Neuronopathy
Bulbospinal Neuronopathy 		disease Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2014 2014
CUI: C4072897
Disease: Decreased serum insulin-like growth factor 1
Decreased serum insulin-like growth factor 1 		phenotype Finding 9 3 0.100 None 0
CUI: C0030442
Disease: Progressive bulbar palsy
Progressive bulbar palsy 		disease Nervous System Diseases Disease or Syndrome 10 1 0.030 None 1.000 3 2006 2017
CUI: C0850024
Disease: Gluten sensitivity
Gluten sensitivity 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 11 0.010 None 1.000 1 2017 2017
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 12 16 0.010 None 1.000 1 1976 1976
CUI: C0042267
Disease: Vaginitis
Vaginitis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 12 0.010 None 1.000 1 2005 2005
CUI: C0393911
Disease: Pure Autonomic Failure
Pure Autonomic Failure 		disease Nervous System Diseases Disease or Syndrome 12 3 0.010 None 1.000 1 2000 2000
CUI: C3888102
Disease: Frontotemporal Dementia With Motor Neuron Disease
Frontotemporal Dementia With Motor Neuron Disease 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 13 4 0.030 None 1.000 3 2014 2019
CUI: C0392678
Disease: Swallowing problem
Swallowing problem 		phenotype Digestive System Diseases Sign or Symptom 13 1 0.010 None 1.000 1 2018 2018
CUI: C0154671
Disease: Degenerative brain disorder
Degenerative brain disorder 		group Nervous System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2018 2018
CUI: C0917981
Disease: Progressive Muscular Atrophy
Progressive Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2019 2019