rs113994087, ALK

N. diseases: 12
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 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
NEUROBLASTOMA, SUSCEPTIBILITY TO
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
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
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR The constitutive activity of the ALK mutated at positions F1174 or R1275 impairs receptor trafficking. 21242967 2011
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.700 GeneticVariation 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 mutations in ALK provide a therapeutic target in neuroblastoma. 18923525 2008
NEUROBLASTOMA, SUSCEPTIBILITY TO
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. 18923523 2008
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.700 SusceptibilityMutation CLINVAR
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.700 CausalMutation CLINVAR
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.100 GeneticVariation BEFREE Combined treatment with alectinib and vorinostat might be a novel therapeutic option for NB harboring the ALK R1275Q mutation. 31262882 2019
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
0.100 GeneticVariation BEFREE To study the contribution of ALK mutations in NB initiation and progression, we reprogrammed fibroblasts from two related NB patients carrying germline mutations in ALK (R1275Q) using non-integrating Sendai virus. 30605844 2019
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
0.100 GeneticVariation BEFREE Combined treatment with alectinib and vorinostat might be a novel therapeutic option for NB harboring the ALK R1275Q mutation. 31262882 2019
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.100 GeneticVariation BEFREE Combined treatment with alectinib and vorinostat might be a novel therapeutic option for NB harboring the ALK R1275Q mutation. 31262882 2019
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.100 GeneticVariation BEFREE To study the contribution of ALK mutations in NB initiation and progression, we reprogrammed fibroblasts from two related NB patients carrying germline mutations in ALK (R1275Q) using non-integrating Sendai virus. 30605844 2019
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.100 GeneticVariation BEFREE To study the contribution of ALK mutations in NB initiation and progression, we reprogrammed fibroblasts from two related NB patients carrying germline mutations in ALK (R1275Q) using non-integrating Sendai virus. 30605844 2019
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.100 GeneticVariation BEFREE Herein, we have illustrated the dynamic conformational property of wild-type ALK as well as the kinase activation equilibrium variation induced by two neuroblastoma mutations (R1275Q and Y1278S) and ATP binding by performing enhanced sampling accelerated Molecular Dynamics (aMD) simulations. 29638111 2018
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
0.100 GeneticVariation BEFREE Herein, we have illustrated the dynamic conformational property of wild-type ALK as well as the kinase activation equilibrium variation induced by two neuroblastoma mutations (R1275Q and Y1278S) and ATP binding by performing enhanced sampling accelerated Molecular Dynamics (aMD) simulations. 29638111 2018
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.100 GeneticVariation BEFREE Accordingly, the combination of the ALK/MET inhibitor crizotinib and selective HDAC8 inhibitors (3-6 µM PCI-34051 or 10 µM 20a) efficiently killed neuroblastoma cell lines carrying wildtype ALK (SK-N-BE(2)-C, IMR5/75), amplified ALK (NB-1), and those carrying the activating ALK F1174L mutation (Kelly), and, in cells carrying the activating R1275Q mutation (LAN-5), combination treatment decreased viable cell count. 29515255 2018
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.100 GeneticVariation BEFREE Accordingly, the combination of the ALK/MET inhibitor crizotinib and selective HDAC8 inhibitors (3-6 µM PCI-34051 or 10 µM 20a) efficiently killed neuroblastoma cell lines carrying wildtype ALK (SK-N-BE(2)-C, IMR5/75), amplified ALK (NB-1), and those carrying the activating ALK F1174L mutation (Kelly), and, in cells carrying the activating R1275Q mutation (LAN-5), combination treatment decreased viable cell count. 29515255 2018
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.100 GeneticVariation BEFREE Herein, we have illustrated the dynamic conformational property of wild-type ALK as well as the kinase activation equilibrium variation induced by two neuroblastoma mutations (R1275Q and Y1278S) and ATP binding by performing enhanced sampling accelerated Molecular Dynamics (aMD) simulations. 29638111 2018
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
0.100 GeneticVariation BEFREE Accordingly, the combination of the ALK/MET inhibitor crizotinib and selective HDAC8 inhibitors (3-6 µM PCI-34051 or 10 µM 20a) efficiently killed neuroblastoma cell lines carrying wildtype ALK (SK-N-BE(2)-C, IMR5/75), amplified ALK (NB-1), and those carrying the activating ALK F1174L mutation (Kelly), and, in cells carrying the activating R1275Q mutation (LAN-5), combination treatment decreased viable cell count. 29515255 2018
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
0.100 GeneticVariation BEFREE Using both Sanger and targeted deep sequencing, this study describes the identification of distinct ALK mutations in these paired cell lines, including the rare R1275L mutation, which has not previously been reported in a neuroblastoma cell line. 27888620 2016