RNR1, s-rRNA, 4549

N. diseases: 75; N. variants: 2
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.
Deafness, Sensorineural, Autosomal-Mitochondrial Type
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 0.500 None 1.000 1 2013 2013
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.400 None 1.000 1 2002 2002
CUI: C0011053
Disease: Deafness
Deafness
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 62 37 0.300 None 1.000 4 1997 2005
CUI: C3665473
Disease: Bilateral Deafness
Bilateral Deafness
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.300 None 1.000 4 1997 2005
CUI: C0751068
Disease: Deafness, Acquired
Deafness, Acquired
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 20 0.300 None 1.000 4 1997 2005
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 22 2 0.300 None 1.000 4 1997 2005
CUI: C4082305
Disease: Deaf Mutism
Deaf Mutism
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 20 0.300 None 1.000 4 1997 2005
CUI: C0086395
Disease: Hearing Loss, Extreme
Hearing Loss, Extreme
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 20 0.300 None 1.000 4 1997 2005
CUI: C0581883
Disease: Complete Hearing Loss
Complete Hearing Loss
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.300 None 1.000 4 1997 2005
CUI: C0751558
Disease: Tinnitus, Tensor Tympani Induced
Tinnitus, Tensor Tympani Induced
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 2 0.300 None 1.000 1 2004 2004
CUI: C0751559
Disease: Pulsatile Tinnitus
Pulsatile Tinnitus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 23 0.300 None 1.000 1 2004 2004
CUI: C0155534
Disease: Tinnitus, Objective
Tinnitus, Objective
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 2 0.300 None 1.000 1 2004 2004
CUI: C0155533
Disease: Tinnitus, Subjective
Tinnitus, Subjective
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 2 0.300 None 1.000 1 2004 2004
CUI: C0751557
Disease: Tinnitus, Tensor Palatini Induced
Tinnitus, Tensor Palatini Induced
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 2 0.300 None 1.000 1 2004 2004
CUI: C0040264
Disease: Tinnitus
Tinnitus
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 103 14 0.300 None 1.000 1 2004 2004
CUI: C0521788
Disease: Tinnitus, Leudet
Tinnitus, Leudet
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 2 0.300 None 1.000 1 2004 2004
CUI: C0395959
Disease: Tinnitus of Vascular Origin
Tinnitus of Vascular Origin
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 2 0.300 None 1.000 1 2004 2004
CUI: C0521787
Disease: Tinnitus, Clicking
Tinnitus, Clicking
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 2 0.300 None 1.000 1 2004 2004
Tinnitus, Spontaneous Oto-Acoustic Emission
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 2 0.300 None 1.000 1 2004 2004
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 51 13 0.300 None 0
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.130 None 1.000 3 1 2003 2017
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
phenotype Finding 130 12 0.100 None 0
CUI: C0745730
Disease: Multiple lipomata
Multiple lipomata
disease Neoplasms Neoplastic Process 38 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0