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: C0152459
Disease: Linear atrophy
Linear atrophy
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.010 None 1.000 1 2002 2002
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 2008
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.010 None 1.000 1 2017 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.390 definitive 1.000 21 1999 2019
CUI: C2677637
Disease: Deafness, Autosomal Dominant 2A
Deafness, Autosomal Dominant 2A
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 25 0.700 strong 1.000 12 25 1997 2015
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.170 None 1.000 7 1 1999 2017
Progressive sensorineural hearing impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.070 None 1.000 7 2 1997 2014
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.060 None 1.000 6 2002 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.020 None 1.000 2 2001 2008
CUI: C0023976
Disease: Long QT Syndrome
Long QT Syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 105 349 0.020 None 1.000 2 2000 2008
CUI: C0395971
Disease: Dominant sensorineural hearing loss
Dominant sensorineural hearing loss
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 6 1 0.020 None 1.000 2 1998 2001
Hearing loss, sensorineural (high frequency)
disease Disease or Syndrome 3 0.020 None 1.000 2 2014 2018
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 35 8 0.010 None 1.000 1 2014 2014
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome
disease Digestive System Diseases Disease or Syndrome 429 52 0.010 None 1.000 1 2014 2014
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 11 15 0.010 None 1.000 1 1 2006 2006
CUI: C0236663
Disease: Alcohol withdrawal syndrome
Alcohol withdrawal syndrome
disease Chemically-Induced Disorders; Mental Disorders Disease or Syndrome 67 6 0.010 None 1.000 1 2018 2018
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
EPILEPSY, BENIGN NEONATAL, 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 20 0.010 None 1.000 1 2008 2008
CUI: C1865143
Disease: BRANCHIOOTIC SYNDROME 1
BRANCHIOOTIC SYNDROME 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 3 10 0.010 None 1.000 1 2 2018 2018
CUI: C3889476
Disease: Benign Familial Convulsion
Benign Familial Convulsion
disease Nervous System Diseases Disease or Syndrome 9 7 0.010 None 1.000 1 2008 2008
CUI: C4022756
Disease: Profound hearing impairment
Profound hearing impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 7 3 0.010 None 1.000 1 2018 2018
CUI: C4551647
Disease: Long QT Syndrome 1
Long QT Syndrome 1
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 20 240 0.010 None 1.000 1 1 2006 2006
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 5 24 0.010 None 1.000 1 2 2018 2018
CUI: C0040264
Disease: Tinnitus
Tinnitus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 103 14 0.100 None 0
CUI: C0011053
Disease: Deafness
Deafness
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 62 37 0.010 None 1.000 1 2007 2007
CUI: C0018781
Disease: Noise-induced hearing loss
Noise-induced hearing loss
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Injury or Poisoning 33 1 0.310 None 1.000 1 2006 2006