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
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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.030 None 1.000 3 2016 2018
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.030 None 1.000 3 2017 2019
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: C0024198
Disease: Lyme Disease
Lyme Disease 		disease Infections Disease or Syndrome 178 4 0.020 None 1.000 2 1997 2003
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.020 None 1.000 2 1 2017 2019
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.120 None 1.000 2 2 2017 2018
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group Nervous System Diseases Disease or Syndrome 189 17 0.020 None 1.000 2 2017 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.020 None 1.000 2 1 2017 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2016 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2016 2018
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: 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: 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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2018 2018
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.010 None 1.000 1 2013 2013
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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.010 None 1.000 1 2018 2018
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group Nervous System Diseases Disease or Syndrome 549 69 0.010 None 1.000 1 2010 2010
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: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.010 None 1.000 1 2017 2017
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		disease Digestive System Diseases; Neoplasms Neoplastic Process 397 68 0.010 None 1.000 1 2009 2009
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
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