TREX1, three prime repair exonuclease 1, 11277

N. diseases: 241; N. variants: 36
Disease: Retinopathy, CTCAE ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		0.400 Biomarker phenotype GENOMICS_ENGLAND Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 16845398 2006
CUI: C1962966
Disease: Retinopathy, CTCAE
Retinopathy, CTCAE 		0.400 Biomarker phenotype HPO