ALK, ALK receptor tyrosine kinase, 238

N. diseases: 519; N. variants: 41
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 GeneticVariation phenotype CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR The constitutive activity of the ALK mutated at positions F1174 or R1275 impairs receptor trafficking. 21242967 2011
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR CH5424802, a selective ALK inhibitor capable of blocking the resistant gatekeeper mutant. 21575866 2011
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR Differential inhibitor sensitivity of anaplastic lymphoma kinase variants found in neuroblastoma. 22072639 2011
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR ALK mutations conferring differential resistance to structurally diverse ALK inhibitors. 21948233 2011
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR Activating ALK mutations found in neuroblastoma are inhibited by Crizotinib and NVP-TAE684. 21838707 2011
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR Identification of ALK as a major familial neuroblastoma predisposition gene. 18724359 2008
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR High incidence of DNA mutations and gene amplifications of the ALK gene in advanced sporadic neuroblastoma tumours. 18990089 2008
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR Activating mutations in ALK provide a therapeutic target in neuroblastoma. 18923525 2008
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 GeneticVariation phenotype CLINVAR High incidence of DNA mutations and gene amplifications of the ALK gene in advanced sporadic neuroblastoma tumours. 18990089 2008
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 GeneticVariation phenotype CLINVAR Identification of ALK as a major familial neuroblastoma predisposition gene. 18724359 2008
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 GeneticVariation phenotype CLINVAR Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. 18923523 2008
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 CausalMutation phenotype CLINVAR Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. 18923523 2008
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.100 GeneticVariation phenotype CLINVAR Valproate-induced hepatoxicity: protective effect of L-carnitine supplementation. 2124297 1990