USP18, ubiquitin specific peptidase 18, 11274

N. diseases: 79; N. variants: 2
Disease: PSEUDO-TORCH SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479376
Disease: PSEUDO-TORCH SYNDROME 2
PSEUDO-TORCH SYNDROME 2 		0.500 GermlineCausalMutation disease ORPHANET Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview. 27821552 2016
CUI: C4479376
Disease: PSEUDO-TORCH SYNDROME 2
PSEUDO-TORCH SYNDROME 2 		0.500 Biomarker disease GENOMICS_ENGLAND Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. 27325888 2016
CUI: C4479376
Disease: PSEUDO-TORCH SYNDROME 2
PSEUDO-TORCH SYNDROME 2 		0.500 GermlineCausalMutation disease ORPHANET Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. 27325888 2016
CUI: C4479376
Disease: PSEUDO-TORCH SYNDROME 2
PSEUDO-TORCH SYNDROME 2 		0.500 Biomarker disease GENOMICS_ENGLAND Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). 12833411 2003