Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519781
rs1057519781
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C0206180
Disease:
Ki-1+ Anaplastic Large Cell Lymphoma
0.010 GeneticVariation BEFREE ALCL xenografts selected <i>in vivo</i> showed recurrent N1178H (5/10 mice) and G1269A (4/10 mice) mutations. 30322862 2018
dbSNP: rs1057519859
rs1057519859
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C0206180
Disease:
Ki-1+ Anaplastic Large Cell Lymphoma
0.010 GeneticVariation BEFREE When OTX015 was associated with GANT61, a selective GLI1/2 inhibitor, C1156Y-resistant ALK ALCL growth was impaired.These findings support OTX015 clinical trials in refractory ALCL in combination with inhibitors of interleukin-2-inducible kinase or SHH/GLI1. 27793034 2016
dbSNP: rs113994089
rs113994089
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C0206180
Disease:
Ki-1+ Anaplastic Large Cell Lymphoma
0.010 GeneticVariation BEFREE These include novel variants with respect to ALK-fusion cancers, R1192P and T1151M, and with respect to ALCL, F1174L and I1171S. 27009859 2016
dbSNP: rs113994091
rs113994091
Entrez Id: 238
Gene Symbol: ALK
ALK
CUI: C0206180
Disease:
Ki-1+ Anaplastic Large Cell Lymphoma
0.010 GeneticVariation BEFREE These include novel variants with respect to ALK-fusion cancers, R1192P and T1151M, and with respect to ALCL, F1174L and I1171S. 27009859 2016