rs1057519698, ALK

N. diseases: 8
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 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 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 Identification of ALK as a major familial neuroblastoma predisposition gene. 18724359 2008
NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
CUI: C2751681
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation UNIPROT
NEUROBLASTOMA, SUSCEPTIBILITY TO
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
0.700 CausalMutation CLINVAR
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.030 GeneticVariation BEFREE Identification of I1171N resistance mutation in ALK-positive non-small-cell lung cancer tumor sample and circulating tumor DNA. 27565911 2016
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.030 GeneticVariation BEFREE I1171 missense mutation (particularly I1171N) is a common resistance mutation in ALK-positive NSCLC patients who have progressive disease while on alectinib and is sensitive to ceritinib. 25736571 2015
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.030 GeneticVariation BEFREE Identification of a novel HIP1-ALK fusion variant in Non-Small-Cell Lung Cancer (NSCLC) and discovery of ALK I1171 (I1171N/S) mutations in two ALK-rearranged NSCLC patients with resistance to Alectinib. 25393796 2014
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Alectinib has shown a greater efficacy to ALK-rearranged non-small-cell lung cancers in first-line setting; however, most patients relapse due to acquired resistance, such as secondary mutations in ALK including I1171N and G1202R. 30662002 2019
Secondary malignant neoplasm of liver
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
0.010 GeneticVariation BEFREE Sequencing analyses of DNA from a liver metastasis biopsy sample and circulating tumor DNA both found the same I1171N ALK kinase domain mutation, known to confer resistance to certain ALK inhibitors. 27565911 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE Sequencing analyses of DNA from a liver metastasis biopsy sample and circulating tumor DNA both found the same I1171N ALK kinase domain mutation, known to confer resistance to certain ALK inhibitors. 27565911 2016
Progressive Neoplastic Disease
CUI: C0677932
Disease: Progressive Neoplastic Disease
0.010 GeneticVariation BEFREE I1171 missense mutation (particularly I1171N) is a common resistance mutation in ALK-positive NSCLC patients who have progressive disease while on alectinib and is sensitive to ceritinib. 25736571 2015
Progressive cGVHD
CUI: C3539781
Disease: Progressive cGVHD
0.010 GeneticVariation BEFREE I1171 missense mutation (particularly I1171N) is a common resistance mutation in ALK-positive NSCLC patients who have progressive disease while on alectinib and is sensitive to ceritinib. 25736571 2015