KARS1, lysyl-tRNA synthetase 1, 3735

N. diseases: 62; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514745
rs397514745
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3151351
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 89 		0.800 GeneticVariation UNIPROT Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism. 28887846 2017
dbSNP: rs397514746
rs397514746
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3151351
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 89 		0.800 GeneticVariation UNIPROT Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism. 28887846 2017
dbSNP: rs397514745
rs397514745
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3151351
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 89 		0.800 GeneticVariation UNIPROT Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. 23768514 2013
dbSNP: rs397514745
rs397514745
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3151351
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 89 		G 0.800 CausalMutation CLINVAR Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. 23768514 2013
dbSNP: rs397514746
rs397514746
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3151351
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 89 		0.800 GeneticVariation UNIPROT Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. 23768514 2013
dbSNP: rs397514746
rs397514746
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3151351
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 89 		T 0.800 CausalMutation CLINVAR Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. 23768514 2013
dbSNP: rs267607194
rs267607194
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3150897
Disease:
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B 		0.800 GeneticVariation UNIPROT Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. 20920668 2010
dbSNP: rs267607194
rs267607194
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3150897
Disease:
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B 		T 0.800 CausalMutation CLINVAR
dbSNP: rs146955132
rs146955132
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3150897
Disease:
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B 		0.700 GeneticVariation UNIPROT
dbSNP: rs1567498374
rs1567498374
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C0001125
Disease:
Acidosis, Lactic 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1567498374
rs1567498374
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C0557874
Disease:
Global developmental delay 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1567498374
rs1567498374
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C0020676
Disease:
Hypothyroidism 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1567498374
rs1567498374
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1567498374
rs1567498374
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C0018784
Disease:
Sensorineural Hearing Loss (disorder) 		A 0.700 CausalMutation CLINVAR
dbSNP: rs201650281
rs201650281
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C0948163
Disease:
Leukoaraiosis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs201650281
rs201650281
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3151351
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 89 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs201650281
rs201650281
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3887709
Disease:
Optic Neuropathy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs201650281
rs201650281
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C1865866
Disease:
Congenital sensorineural hearing loss 		A 0.700 CausalMutation CLINVAR
dbSNP: rs201650281
rs201650281
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C0393525
Disease:
Progressive cerebellar ataxia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs201650281
rs201650281
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C0234132
Disease:
Pyramidal sign 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587776688
rs587776688
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3150897
Disease:
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B 		GAA 0.700 CausalMutation CLINVAR
dbSNP: rs772410450
rs772410450
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C0234132
Disease:
Pyramidal sign 		C 0.700 CausalMutation CLINVAR
dbSNP: rs772410450
rs772410450
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C0393525
Disease:
Progressive cerebellar ataxia 		C 0.700 CausalMutation CLINVAR
dbSNP: rs772410450
rs772410450
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C1865866
Disease:
Congenital sensorineural hearing loss 		C 0.700 CausalMutation CLINVAR
dbSNP: rs772410450
rs772410450
Entrez Id: 3735
Gene Symbol: KARS1
KARS1
CUI: C3887709
Disease:
Optic Neuropathy 		C 0.700 CausalMutation CLINVAR