TREX1, three prime repair exonuclease 1, 11277

N. diseases: 241; N. variants: 36
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.400 CausalMutation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype GENOMICS_ENGLAND New roles for the major human 3'-5' exonuclease TREX1 in human disease. 18583934 2008
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype HPO