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: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 209 21 0.110 None 1.000 1 2 2018 2018
CUI: C0027859
Disease: Acoustic Neuroma
Acoustic Neuroma 		disease Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process 131 3 0.100 None 0
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 218 31 0.010 None 1.000 1 2018 2018
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2018 2018
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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.020 None 1.000 2 1 2017 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.010 None 1.000 1 2018 2018
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 208 136 0.010 None 1.000 1 2010 2010
CUI: C3150897
Disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B 		disease Disease or Syndrome 1 3 0.700 None 1.000 6 3 1996 2017
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2018 2018
CUI: C1865866
Disease: Congenital sensorineural hearing loss
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: C0010418
Disease: Cryptosporidiosis
Cryptosporidiosis 		disease Digestive System Diseases; Infections; Animal Diseases Disease or Syndrome 40 0.010 None 1.000 1 2019 2019
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
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 235 34 0.010 None 1.000 1 2018 2018
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: 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: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		phenotype Finding 70 4 0.100 None 0
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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.400 strong 1.000 2 1 2015 2017
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.010 None 1.000 1 2017 2017
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 560 635 0.010 None 1.000 1 2017 2017
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 233 90 0.010 None 1.000 1 2017 2017
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 0.100 None 0