SP110, SP110 nuclear body protein, 3431

N. diseases: 65; N. variants: 27
Disease: Hepatic venoocclusive disease with immunodeficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		0.720 Biomarker disease BEFREE This approach will fail to identify VODI patients because the disease is not associated with severe T cell lymphopenia at birth; (2) the SP110 gene contains 17 exons, making it a challenge for Sanger sequencing. 28825155 2017
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		0.720 GeneticVariation disease CLINVAR Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome. 22621957 2012
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		0.720 CausalMutation disease CLINVAR Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome. 22621957 2012
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		0.720 GeneticVariation disease BEFREE The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110. 17510920 2007
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		0.720 GermlineCausalMutation disease ORPHANET Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. 16648851 2006
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. 16648851 2006
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		0.720 GeneticVariation disease CLINVAR Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease. 16648851 2006
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		0.720 Biomarker disease CTD_human
CUI: C1856128
Disease: Hepatic venoocclusive disease with immunodeficiency
Hepatic venoocclusive disease with immunodeficiency 		0.720 Biomarker disease GENOMICS_ENGLAND