rs113994087, ALK

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.020 GeneticVariation BEFREE Wild-type ALK and activating ALK-R1275Q and ALK-F1174L mutations upregulate Myc and initiate tumor formation in murine neural crest progenitor cells. 24947326 2014
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
0.100 GeneticVariation BEFREE We detected the ALK mutation (F1174C and R1275Q) in 2 (3.7%) of the 54 NB specimens. 21940108 2011
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.100 GeneticVariation BEFREE We detected the ALK mutation (F1174C and R1275Q) in 2 (3.7%) of the 54 NB specimens. 21940108 2011
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.100 GeneticVariation BEFREE We detected the ALK mutation (F1174C and R1275Q) in 2 (3.7%) of the 54 NB specimens. 21940108 2011
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
Central neuroblastoma
CUI: C0700095
Disease: Central 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
Neuroblastoma
CUI: C0027819
Disease: 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
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
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
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
0.010 GeneticVariation BEFREE The two most frequent mutations, ALK-F1174L and ALK-R1275Q, contribute to NB tumorigenesis in mouse models, and cooperate with MYCN in the oncogenic process. 24947326 2014
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.100 GeneticVariation BEFREE The two most frequent mutations, ALK-F1174L and ALK-R1275Q, contribute to NB tumorigenesis in mouse models, and cooperate with MYCN in the oncogenic process. 24947326 2014
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
0.100 GeneticVariation BEFREE The two most frequent mutations, ALK-F1174L and ALK-R1275Q, contribute to NB tumorigenesis in mouse models, and cooperate with MYCN in the oncogenic process. 24947326 2014
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.100 GeneticVariation BEFREE The two most frequent mutations, ALK-F1174L and ALK-R1275Q, contribute to NB tumorigenesis in mouse models, and cooperate with MYCN in the oncogenic process. 24947326 2014
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.100 GeneticVariation BEFREE The most frequent ALK mutations in neuroblastoma cause amino acid substitutions (F1174L and R1275Q) in the intracellular tyrosine kinase domain of the intact ALK receptor. 22072639 2011
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.100 GeneticVariation BEFREE The most frequent ALK mutations in neuroblastoma cause amino acid substitutions (F1174L and R1275Q) in the intracellular tyrosine kinase domain of the intact ALK receptor. 22072639 2011
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
0.100 GeneticVariation BEFREE The most frequent ALK mutations in neuroblastoma cause amino acid substitutions (F1174L and R1275Q) in the intracellular tyrosine kinase domain of the intact ALK receptor. 22072639 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
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
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
0.100 GeneticVariation BEFREE The R1275Q neuroblastoma mutant and certain ATP-competitive inhibitors stabilize alternative activation loop conformations of anaplastic lymphoma kinase. 22932897 2012
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.100 GeneticVariation BEFREE The R1275Q neuroblastoma mutant and certain ATP-competitive inhibitors stabilize alternative activation loop conformations of anaplastic lymphoma kinase. 22932897 2012
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.100 GeneticVariation BEFREE The R1275Q neuroblastoma mutant and certain ATP-competitive inhibitors stabilize alternative activation loop conformations of anaplastic lymphoma kinase. 22932897 2012
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
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