rs113994087, ALK

N. diseases: 12
Disease: hereditary neuroblastoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
hereditary neuroblastoma
CUI: C3899155
Disease: hereditary neuroblastoma
0.010 GeneticVariation BEFREE The authors report two siblings with familial neuroblastoma with a germline R1275Q mutation of the tyrosine kinase domain of ALK. 30350464 2018