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.
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0
CUI: C1838854
Disease: DEAFNESS, AMINOGLYCOSIDE-INDUCED
DEAFNESS, AMINOGLYCOSIDE-INDUCED 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 1 0.100 None 0 1
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
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 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: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers 		phenotype Finding 59 1 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 80 53 0.010 None 1.000 1 1997 1997
CUI: C0026916
Disease: Mycobacterium avium-intracellulare Infection
Mycobacterium avium-intracellulare Infection 		disease Infections Disease or Syndrome 58 5 0.010 None 1.000 1 2000 2000
CUI: C0030524
Disease: Paratuberculosis
Paratuberculosis 		disease Infections; Animal Diseases Disease or Syndrome 61 6 0.010 None 1.000 1 2000 2000
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: C0004610
Disease: Bacteremia
Bacteremia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 233 7 0.010 None 1.000 1 2003 2003
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.010 None 1.000 1 2003 2003
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: 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: 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: 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: 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: C0751556
Disease: Tinnitus, Spontaneous Oto-Acoustic Emission
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