KARS1, lysyl-tRNA synthetase 1, 3735

N. diseases: 62; N. variants: 13
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: C3151351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 89
DEAFNESS, AUTOSOMAL RECESSIVE 89
disease Disease or Syndrome 1 3 0.700 None 1.000 7 3 1996 2017
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
disease Disease or Syndrome 1 3 0.700 None 1.000 6 3 1996 2017
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME
disease Nervous System Diseases Disease or Syndrome 11 16 0.010 None 1.000 1 2012 2012
CUI: C0752100
Disease: Autosomal Recessive Parkinsonism
Autosomal Recessive Parkinsonism
disease Nervous System Diseases Disease or Syndrome 33 1 0.010 None 1.000 1 2012 2012
CUI: C0010418
Disease: Cryptosporidiosis
Cryptosporidiosis
disease Digestive System Diseases; Infections; Animal Diseases Disease or Syndrome 40 0.010 None 1.000 1 2019 2019
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 51 5 0.100 None 0
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 54 8 0.110 None 1.000 1 2 2019 2019
Congenital sensorineural hearing loss
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 68 17 0.100 None 0 2
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness
phenotype Finding 70 4 0.100 None 0
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 72 24 0.100 None 0 2
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 86 5 0.100 None 0
CUI: C0598589
Disease: Inherited neuropathies
Inherited neuropathies
disease Nervous System Diseases Disease or Syndrome 104 4 0.010 None 1.000 1 2019 2019
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
group Eye Diseases; Nervous System Diseases Disease or Syndrome 112 2 0.010 None 1.000 1 2019 2019
CUI: C0149940
Disease: Sciatic Neuropathy
Sciatic Neuropathy
disease Nervous System Diseases Disease or Syndrome 115 0.200 None 1.000 1 2015 2015
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma
disease Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 131 3 0.100 None 0
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.100 None 0 2
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 155 10 0.100 None 0 2
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy
disease Nervous System Diseases Disease or Syndrome 156 32 0.010 None 1.000 1 2017 2017
CUI: C0042798
Disease: Low Vision
Low Vision
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 157 51 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 0.320 limited 1.000 5 2004 2019
CUI: C0162534
Disease: Prion Diseases
Prion Diseases
group Infections; Nervous System Diseases Disease or Syndrome 175 67 0.010 None 1.000 1 2014 2014
CUI: C0024198
Disease: Lyme Disease
Lyme Disease
disease Infections Disease or Syndrome 178 4 0.020 None 1.000 2 1997 2003
CUI: C0085655
Disease: Polymyositis
Polymyositis
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 183 22 0.010 None 1.000 1 2018 2018
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
group Nervous System Diseases Disease or Syndrome 189 17 0.020 None 1.000 2 2017 2018
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.010 None 1.000 1 2019 2019