CASP10, caspase 10, 843

N. diseases: 166; N. variants: 16
Disease: Autoimmune Lymphoproliferative Syndrome, Type IIA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858968
Disease: Autoimmune Lymphoproliferative Syndrome, Type IIA
Autoimmune Lymphoproliferative Syndrome, Type IIA 		0.730 GeneticVariation disease BEFREE Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. 21382177 2011
CUI: C1858968
Disease: Autoimmune Lymphoproliferative Syndrome, Type IIA
Autoimmune Lymphoproliferative Syndrome, Type IIA 		0.730 Biomarker disease GENOMICS_ENGLAND Autoimmune lymphoproliferative syndrome: molecular basis of disease and clinical phenotype. 16611303 2006
CUI: C1858968
Disease: Autoimmune Lymphoproliferative Syndrome, Type IIA
Autoimmune Lymphoproliferative Syndrome, Type IIA 		0.730 Biomarker disease BEFREE Caspase 10, a representative of the caspase family of proteases, which plays a central role in the execution of apoptosis, is defect in autoimmune lymphoproliferative syndrome type II (ALPS II). 11397650 2001
CUI: C1858968
Disease: Autoimmune Lymphoproliferative Syndrome, Type IIA
Autoimmune Lymphoproliferative Syndrome, Type IIA 		0.730 GeneticVariation disease BEFREE Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. 10412980 1999
CUI: C1858968
Disease: Autoimmune Lymphoproliferative Syndrome, Type IIA
Autoimmune Lymphoproliferative Syndrome, Type IIA 		0.730 GeneticVariation disease UNIPROT Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. 10412980 1999
CUI: C1858968
Disease: Autoimmune Lymphoproliferative Syndrome, Type IIA
Autoimmune Lymphoproliferative Syndrome, Type IIA 		0.730 CausalMutation disease CLINVAR
CUI: C1858968
Disease: Autoimmune Lymphoproliferative Syndrome, Type IIA
Autoimmune Lymphoproliferative Syndrome, Type IIA 		0.730 Biomarker disease CTD_human