* Phenotype mapping Key

1 => The disorder is placed on the map based on its association with a gene, but the underlying defect is not known
2 => The disorder has been placed on the map by linkage; no mutation has been found
3 => The molecular basis for the disorder is known; a mutation has been found in the gene
4 => A contiguous gene deletion or duplication syndrome, multiple genes are deleted or duplicated causing the phenotype

Gene Symbol Chromosomal LocationGene MIM number Mapping MethodPhenotype Phenotype MIM number Phenotype Mapping Key
CASP82q33.1601763A?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3)6072713
CASP82q33.1601763AHepatocellular carcinoma, somatic, 114550 (3)1145503
CASP82q33.1601763A{Breast cancer, protection against}, 114480 (3)1144803
CASP82q33.1601763A{Lung cancer, protection against}, 211980 (3)2119803