CASP10, caspase 10, 843

N. diseases: 166; N. variants: 16
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
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.620 GeneticVariation disease BEFREE Moreover, the caspase-10 L285F and A414V mutants, found in autoimmune lymphoproliferative syndrome and non-Hodgkin lymphoma, respectively, regulated this necrosis. 27799292 2017
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.620 Biomarker disease BEFREE Caspase-10 is an initiation-phase caspase, and somatic mutation of CASP10 that encodes caspase-10 has been found in non-Hodgkin's lymphoma and gastric carcinoma. 20025484 2010
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.620 GeneticVariation disease UNIPROT Inactivating mutations of CASP10 gene in non-Hodgkin lymphomas. 12010812 2002
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.620 Biomarker disease CTD_human
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.620 CausalMutation disease CLINVAR
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.610 GeneticVariation disease BEFREE Overall, three of 99 gastric cancers (3%) were found to have the caspase-10 mutations, which were identified in the coding regions of the death effector domain (codon 147) and the p17 large protease domain (codons 257 and 410), whereas no mutation was detected in caspase-8. 11973654 2002
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.610 CausalMutation disease CGI
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.610 Biomarker disease HPO
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.610 Biomarker disease CTD_human
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.600 Biomarker group CTD_human
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.600 CausalMutation group CLINVAR
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.600 CausalMutation group CGI
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.540 GeneticVariation disease BEFREE Moreover, the caspase-10 L285F and A414V mutants, found in autoimmune lymphoproliferative syndrome and non-Hodgkin lymphoma, respectively, regulated this necrosis. 27799292 2017
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.540 Biomarker disease BEFREE Caspase-10 is an initiation-phase caspase, and somatic mutation of CASP10 that encodes caspase-10 has been found in non-Hodgkin's lymphoma and gastric carcinoma. 20025484 2010
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.540 GeneticVariation disease BEFREE We investigated five single nucleotide polymorphisms in four key caspase genes, CASP3 [Ex8-280C>A (rs6948) and Ex8+567T>C (rs1049216)], CASP8 Ex14-271A>T (rs13113), CASP9 Ex5+32G>A (rs1052576) and CASP10 Ex3-171A>G (rs3900115) to determine whether they alter risk for non-Hodgkin lymphoma (NHL) in a population-based case-control study of women in Connecticut (461 cases and 535 controls). 17071630 2007
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.540 GeneticVariation disease BEFREE These data suggest that the inactivating mutations of the CASP10 gene might lead to the loss of its apoptotic function and contribute to the pathogenesis of some human NHLs. 12010812 2002
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.540 GeneticVariation disease LHGDN These data suggest that the inactivating mutations of the CASP10 gene might lead to the loss of its apoptotic function and contribute to the pathogenesis of some human NHLs. 12010812 2002
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.540 Biomarker disease CTD_human