rs863225283, ALK

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEUROBLASTOMA, SUSCEPTIBILITY TO
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Differential inhibitor sensitivity of anaplastic lymphoma kinase variants found in neuroblastoma. 22072639 2011
NEUROBLASTOMA, SUSCEPTIBILITY TO
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Activating ALK mutations found in neuroblastoma are inhibited by Crizotinib and NVP-TAE684. 21838707 2011
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.700 CausalMutation CLINVAR
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE These studies demonstrate that PF-06463922 has the potential to overcome crizotinib resistance and exerts unprecedented activity as a single targeted agent against F1174L and F1245C ALK-mutated xenograft tumors, while also inducing responses in an R1275Q xenograft model. 26554404 2016
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE Here we described the emergence of an ALK F1245C mutation in an advanced ALK+ NSCLC patient (EML4-ALK variant 3a/b) who developed slow disease progression after a durable response to crizotinib. 26775591 2016