CASP10, caspase 10, 843

N. diseases: 166; N. variants: 16
Disease: Autoimmune Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.010 GeneticVariation group BEFREE Heterozygous mutations in CD95, CD95 ligand or caspase-10 underlie most cases of autoimmune lymphoproliferative syndrome (ALPS), a human disorder that is characterized by defective lymphocyte apoptosis, lymphadenopathy, splenomegaly and autoimmunity. 12353035 2002