rs80358239, CASP10

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
0.700 CausalMutation CLINVAR
Autoimmune Lymphoproliferative Syndrome
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
0.020 GeneticVariation BEFREE We identified 6 patients with an ALPS (n = 2) or ALPS-like (n = 4) phenotype, carrying I406L (n = 1),V410l (n = 2),Y446C (n = 1) heterozygous CASP10 variants or the L522l polymorphisms (n = 2) associated with another polymorphic homozygote variant on CASP8 or a compound heterozygous mutation on TNFRSF13C. 31309545 2019
Autoimmune Lymphoproliferative Syndrome
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
0.020 GeneticVariation BEFREE Herein we describe the case of a 8-years-old boy with diagnosis of atypical autoimmune lymphoproliferative syndrome (ALPS), carrying heterozygous mutation of CASP10 gene (I406L). 27378136 2016