TSEN2, tRNA splicing endonuclease subunit 2, 80746

N. diseases: 44; N. variants: 11
Disease: Hemeralopia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018975
Disease: Hemeralopia
Hemeralopia 		0.300 Biomarker disease CTD_human tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 18711368 2008