Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features. | 28496994 | 2017 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. | 27604308 | 2016 | ||||
|
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 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. | 23768514 | 2013 | ||||
|
0.700 | GermlineCausalMutation | disease | ORPHANET | Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. | 20920668 | 2010 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. | 20920668 | 2010 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. | 20920668 | 2010 | ||||
|
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 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | |||||||
|
0.700 | Biomarker | disease | CTD_human |