×
Entrez Id:
3735
Gene Symbol:
KARS1
KARS1
0.700
Biomarker
disease
GENOMICS_ENGLAND
Novel Causative Variants in DYRK1A, KARS , and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.
28496994
2017
×
Entrez Id:
3735
Gene Symbol:
KARS1
KARS1
0.700
GeneticVariation
disease
UNIPROT
Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.
28887846
2017
×
Entrez Id:
3735
Gene Symbol:
KARS1
KARS1
0.700
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
3735
Gene Symbol:
KARS1
KARS1
0.700
Biomarker
disease
GENOMICS_ENGLAND
Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease.
25330800
2015
×
Entrez Id:
3735
Gene Symbol:
KARS1
KARS1
0.700
Biomarker
disease
GENOMICS_ENGLAND
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
23768514
2013
×
Entrez Id:
3735
Gene Symbol:
KARS1
KARS1
0.700
GeneticVariation
disease
UNIPROT
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
23768514
2013
×
Entrez Id:
3735
Gene Symbol:
KARS1
KARS1
0.700
CausalMutation
disease
CLINVAR
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
23768514
2013
×
Entrez Id:
3735
Gene Symbol:
KARS1
KARS1
0.700
Biomarker
disease
GENOMICS_ENGLAND
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
20920668
2010
×
Entrez Id:
3735
Gene Symbol:
KARS1
KARS1
0.700
Biomarker
disease
GENOMICS_ENGLAND
Assignment of two human autoantigen genes-isoleucyl-tRNA synthetase locates to 9q21 and lysyl-tRNA synthetase locates to 16q23-q24.
8812440
1996
×
Entrez Id:
3735
Gene Symbol:
KARS1
KARS1
0.700
GeneticVariation
disease
CLINVAR
×
Entrez Id:
3735
Gene Symbol:
KARS1
KARS1
0.700
Biomarker
disease
CTD_human