USP18, ubiquitin specific peptidase 18, 11274

N. diseases: 79; N. variants: 2
Disease: Pseudo-TORCH syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		0.510 Biomarker disease GENOMICS_ENGLAND Moreover, USP18 deficiency represents the first genetic disorder of PTS caused by dysregulation of the response to type I IFNs. 27325888 2016
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		0.510 GeneticVariation disease BEFREE In this study, we identified loss-of-function recessive mutations of USP18 in five PTS patients from two unrelated families. 27325888 2016
CUI: C3489725
Disease: Pseudo-TORCH syndrome
Pseudo-TORCH syndrome 		0.510 Biomarker disease CTD_human