rs121434596, NRAS

N. diseases: 26
Disease: Autoimmune Lymphoproliferative Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autoimmune Lymphoproliferative Syndrome
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
0.020 GeneticVariation BEFREE Genetic analyses failed to detect an ALPS-related gene mutation; however, whole exome sequencing and other genetic analyses revealed somatic mosaicism for the G13D NRAS mutation. 25896945 2015
Autoimmune Lymphoproliferative Syndrome
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
0.020 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660 2007