TREX1, three prime repair exonuclease 1, 11277

N. diseases: 241; N. variants: 36
Disease: Trichohepatoenteric Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 GeneticVariation disease BEFREE Aicardi-Goutières syndrome is usually inherited as an autosomal recessive trait, although a single case of a heterozygous TREX1 mutation associated with the syndrome has been reported. 20799324 2010