ISG15, ISG15 ubiquitin like modifier, 9636

N. diseases: 148; N. variants: 7
Disease: IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4015293
Disease: IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 		0.700 CausalMutation disease CLINVAR
CUI: C4015293
Disease: IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 		0.700 Biomarker disease CTD_human
CUI: C4015293
Disease: IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 		0.700 Biomarker disease GENOMICS_ENGLAND Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. 22859821 2012
CUI: C4015293
Disease: IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 		0.700 GermlineCausalMutation disease ORPHANET Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. 22859821 2012
CUI: C4015293
Disease: IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 		0.700 Biomarker disease GENOMICS_ENGLAND Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. 22859821 2012
CUI: C4015293
Disease: IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 		0.700 Biomarker disease GENOMICS_ENGLAND ISG15: leading a double life as a secreted molecule. 23579383 2013
CUI: C4015293
Disease: IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION 		0.700 Biomarker disease GENOMICS_ENGLAND Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation. 25307056 2015