CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.
|
28496994 |
2017 |
DEAFNESS, AUTOSOMAL RECESSIVE 89
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.
|
28496994 |
2017 |
DEAFNESS, AUTOSOMAL RECESSIVE 89
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism.
|
28887846 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
DEAFNESS, AUTOSOMAL RECESSIVE 89
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
|
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 |
DEAFNESS, AUTOSOMAL RECESSIVE 89
|
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 |
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
|
23768514 |
2013 |
DEAFNESS, AUTOSOMAL RECESSIVE 89
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
|
23768514 |
2013 |
DEAFNESS, AUTOSOMAL RECESSIVE 89
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
|
23768514 |
2013 |
DEAFNESS, AUTOSOMAL RECESSIVE 89
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
|
23768514 |
2013 |
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
|
20920668 |
2010 |
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
|
20920668 |
2010 |
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
|
20920668 |
2010 |
DEAFNESS, AUTOSOMAL RECESSIVE 89
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
|
20920668 |
2010 |
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
|
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 |
DEAFNESS, AUTOSOMAL RECESSIVE 89
|
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 |
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 89
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 89
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Global developmental delay
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.
|
28496994 |
2017 |
Global developmental delay
|
0.400 |
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 |
Global developmental delay
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Global developmental delay
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|