HARS1, histidyl-tRNA synthetase 1, 3035

N. diseases: 127; N. variants: 16
Disease: Usher Syndrome, Type III ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		0.300 GermlineCausalMutation disease ORPHANET Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524 2012