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: C1854158
Disease: DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 25 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 1 0.910 strong 1.000 4 1 2008 2018
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.310 strong 1.000 8 2008 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.300 strong 1.000 1 2018 2018
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.200 None 1.000 2 2008 2008
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		group Nervous System Diseases Disease or Syndrome 373 95 0.200 None 1.000 1 2007 2007
CUI: C0149940
Disease: Sciatic Neuropathy
Sciatic Neuropathy 		disease Nervous System Diseases Disease or Syndrome 115 0.200 None 1.000 1 2013 2013
CUI: C0040896
Disease: Trichinellosis
Trichinellosis 		disease Infections Disease or Syndrome 14 0.200 None 1.000 1 2012 2012
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 451 4 0.200 None 1.000 1 2012 2012
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 0.200 None 1.000 1 2013 2013
CUI: C0009197
Disease: Cochlear Diseases
Cochlear Diseases 		group Otorhinolaryngologic Diseases Disease or Syndrome 6 0.200 None 1.000 1 2011 2011
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.110 None 1.000 1 2001 2001
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.100 None 1.000 1 3 2012 2012
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 840 163 0.020 None 1.000 2 2018 2019
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 72 11 0.020 None 1.000 2 2003 2019
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.020 None 1.000 2 2018 2019
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.010 None 1.000 1 2019 2019
CUI: C0007370
Disease: Catalepsy
Catalepsy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 43 0.010 None < 0.001 1 2019 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.010 None 1.000 1 2013 2013
CUI: C0042345
Disease: Varicosity
Varicosity 		disease Cardiovascular Diseases Disease or Syndrome 188 51 0.010 None 1.000 1 2019 2019
CUI: C0009171
Disease: Cocaine Abuse
Cocaine Abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 144 3 0.010 None 1.000 1 2015 2015
CUI: C0013146
Disease: Drug abuse
Drug abuse 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 405 39 0.010 None 1.000 1 2015 2015