KARS1, lysyl-tRNA synthetase 1, 3735

N. diseases: 62; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.320 GeneticVariation disease BEFREE Mutations in KARS, which encodes for both mitochondrial and cytoplasmic lysyl-tRNA synthetase, have been so far associated with three different phenotypes: the recessive form of Charcot-Mary-Tooth polyneuropathy, the autosomal recessive nonsyndromic hearing loss and the last recently described condition related to congenital visual impairment and progressive microcephaly. 27891585 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.320 Biomarker disease CLINGEN The function of lysyl-tRNA synthetase and Ap4A as signaling regulators of MITF activity in FcepsilonRI-activated mast cells. 14975237 2004
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.320 Biomarker disease CLINGEN Mutations in KARS cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism. 28887846 2017
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.320 Biomarker disease CLINGEN Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. 23768514 2013
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
0.320 GeneticVariation disease BEFREE Biallelic mutations in the KARS gene were described in a wide phenotypic spectrum ranging from nonsyndromic deafness to complex impairments. 31116475 2019