CASP8, caspase 8, 841

N. diseases: 480; N. variants: 32
Disease: Autoimmune Lymphoproliferative Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1477247624
rs1477247624
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C1328840
Disease:
Autoimmune Lymphoproliferative Syndrome 		0.010 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