HARS1, histidyl-tRNA synthetase 1, 3035

N. diseases: 127; N. variants: 16
Disease: Deaf-Blind Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1955603
Disease: Deaf-Blind Disorders
Deaf-Blind Disorders 		0.010 GeneticVariation group BEFREE The USH3B mutation, which encodes a Y454S substitution in HARS, is inherited in an autosomal recessive fashion and associated with childhood deafness, blindness, and episodic hallucinations during acute illness. 28632987 2017