Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C3151351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 89
DEAFNESS, AUTOSOMAL RECESSIVE 89 		disease 0.700 None 1.000 1 3 1996 2017
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C3150897
Disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B 		disease 0.700 None 1.000 0 2 1996 2017
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 0 1 2015 2017
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.120 None 1.000 0 1 2017 2018
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype 0.110 None 1.000 0 1 2018 2018
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		disease 0.110 None 1.000 0 2 2019 2019
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		disease 0.100 None 0 2
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		phenotype 0.100 None 0 2
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		phenotype 0.100 None 0 2
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		disease 0.100 None 0 2
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease 0.100 None 0 1