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: C1866094
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 15
DEAFNESS, AUTOSOMAL RECESSIVE 15
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 10 0.700 strong 1.000 3 10 1997 2011
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.400 strong 1.000 1 1 1997 1997
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.350 definitive 1.000 6 2007 2014
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.140 None 1.000 4 1 2011 2018
Prelingual sensorineural hearing impairment
disease Disease or Syndrome 17 7 0.100 None 0
CUI: C0751791
Disease: Reflex Epilepsy, Audiogenic
Reflex Epilepsy, Audiogenic
disease Nervous System Diseases Disease or Syndrome 31 0.010 None 1.000 1 2011 2011
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2002 2002
Progressive sensorineural hearing impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.010 None 1.000 1 2011 2011
Nodular Sclerosis Classical Hodgkin Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 66 22 0.010 None 1.000 1 2013 2013
Auditory neuropathy spectrum disorder
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 28 17 0.010 None 1.000 1 2018 2018
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.010 None 1.000 1 2011 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2013 2013