KARS1, lysyl-tRNA synthetase 1, 3735

N. diseases: 62; N. variants: 13
Disease: Optic Neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		0.110 GeneticVariation disease BEFREE Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. 31116475 2019
CUI: C3887709
Disease: Optic Neuropathy
Optic Neuropathy 		0.110 CausalMutation disease CLINVAR