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, 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
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.020 GeneticVariation BEFREE ALK mutations occur in equal frequencies across all genomic subtypes, but F1174L mutants are observed in a higher frequency of MYCN-amplified tumors and show increased transforming capacity as compared with the R1275Q mutants. 20719933 2010
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
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
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 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
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
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
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
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.100 GeneticVariation BEFREE A 77-gene ALK signature was established and successfully validated in primary neuroblastoma samples, in a neuroblastoma cell line with ALK(F1174L) and ALK(R1275Q) regulable overexpression constructs and in other ALKomas. 25805801 2015
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.100 GeneticVariation BEFREE A 77-gene ALK signature was established and successfully validated in primary neuroblastoma samples, in a neuroblastoma cell line with ALK(F1174L) and ALK(R1275Q) regulable overexpression constructs and in other ALKomas. 25805801 2015