rs121913514, KIT

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.750 GeneticVariation CLINVAR Dasatinib inhibits proliferation and induces apoptosis in the KASUMI-1 cell line bearing the t(8;21)(q22;q22) and the N822K c-kit mutation. 23149070 2013
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.750 GeneticVariation BEFREE We found the activity of protein phosphatase 2A (PP2A), a human tumor suppressor whose dysfunction contributes to malignant cell behavior, was significantly decreased in AML subgroups harboring C-KIT/D816V and AML cell line Kasumi-1 bearing C-KIT/N822K mutation. 22109829 2012
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.750 GeneticVariation BEFREE Interestingly, coexpression of AE and HyC-KIT N822K led to fatal AML. 21262832 2011
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.750 GeneticVariation BEFREE The t(8;21) Acute Myeloid Leukaemia (AML) Kasumi-1 cell line with N822K KIT mutation, is a model system for leukemogenesis. 20227111 2010
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.750 GeneticVariation BEFREE However, the 5 KIT-mutated cases (D816H, 3; D816Y, 1; and N822K, 1) of t(8; 21) AML had diminished CD19 expression (P = .04) with definite CD56 expression (P = .30) on myeloid blasts. 17875504 2007
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.750 GeneticVariation BEFREE Kasumi-1 is t(8;21) acute myeloid leukemia (AML) cell line harboring mutated KIT with Asn822Lys substitution. 16213582 2006
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR [Secondary mutation of c-kit/PDGFRα genotypes after imatinib mesylate therapy and its relationship with efficacy of sunitinib]. 22932406 2012
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR KIT as a therapeutic target in metastatic melanoma. 21642685 2011
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR Sorafenib inhibits the imatinib-resistant KITT670I gatekeeper mutation in gastrointestinal stromal tumor. 17699867 2007
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR Mechanisms of resistance to imatinib mesylate in gastrointestinal stromal tumors and activity of the PKC412 inhibitor against imatinib-resistant mutants. 15685537 2005
Testicular Germ Cell Tumor
CUI: C1336708
Disease: Testicular Germ Cell Tumor
0.700 GeneticVariation UNIPROT
Core binding factor acute myeloid leukemia
0.040 GeneticVariation BEFREE Previous studies have indicated similar proliferation and apoptosis between N822K and D816V mutations.The current study aims to determine the occurrence and potential functions of N822K mutation-induced c-KIT activation in AML cells, and explore possible mechanisms of poor prognosis of CBF-AML. 31217744 2019
Core binding factor acute myeloid leukemia
0.040 GeneticVariation BEFREE KIT mutations, such as N822K, have been found in 30% of core binding factor-AML (CBF-AML) patients. 31484543 2019
Core binding factor acute myeloid leukemia
0.040 GeneticVariation BEFREE D816V mutation in the KIT gene activation loop has greater cell-proliferative and anti-apoptotic ability than N822K mutation in core-binding factor acute myeloid leukemia. 28506695 2017
Core binding factor acute myeloid leukemia
0.040 GeneticVariation BEFREE In the present study, we analyzed the prognostic significance of each KIT mutation (D816, N822K, and other mutations) in Japanese patients with CBF-AML. 28762080 2017
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.030 GeneticVariation BEFREE N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells. 31484543 2019
leukemia
CUI: C0023418
Disease: leukemia
0.030 GeneticVariation BEFREE N822K- or V560G-mutated KIT activation preferentially occurs in lipid rafts of the Golgi apparatus in leukemia cells. 31484543 2019
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.030 GeneticVariation BEFREE Furthermore, dasatinib prolonged lifespan of mice bearing AE and HyC-KIT N822K-coexpressing leukemic cells and exerted synergic effects while combined with cytarabine, thus providing a potential therapeutic for t(8;21) leukemia. 21262832 2011
leukemia
CUI: C0023418
Disease: leukemia
0.030 GeneticVariation BEFREE Here we studied the effects of Bacillus intermedius RNase (binase) on murine myeloid progenitor cells FDC-P1; transduced FDC-P1 cells ectopically expressing mutated human KIT N822K oncogene and/or human AML1-ETO oncogene; and human leukemia Kasumi-1 cells expressing both of these oncogenes. 22101339 2011
leukemia
CUI: C0023418
Disease: leukemia
0.030 GeneticVariation BEFREE Furthermore, dasatinib prolonged lifespan of mice bearing AE and HyC-KIT N822K-coexpressing leukemic cells and exerted synergic effects while combined with cytarabine, thus providing a potential therapeutic for t(8;21) leukemia. 21262832 2011
Childhood Leukemia
CUI: C1332977
Disease: Childhood Leukemia
0.030 GeneticVariation BEFREE Here we studied the effects of Bacillus intermedius RNase (binase) on murine myeloid progenitor cells FDC-P1; transduced FDC-P1 cells ectopically expressing mutated human KIT N822K oncogene and/or human AML1-ETO oncogene; and human leukemia Kasumi-1 cells expressing both of these oncogenes. 22101339 2011
Dysgerminoma
CUI: C0013377
Disease: Dysgerminoma
0.010 GeneticVariation BEFREE Next to these, three codon N822K mutations were detected in the group of 15 pure ovarian dysgerminomas. 22937135 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE Molecular analysis showed a somatic 6-base pair deletion in exon 11 of c-KIT (W557_K558del) in both the primary tumor and the third recurrence; the recurrence had an additional exon 17 mutation (N822K). 21237497 2011
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
0.010 GeneticVariation BEFREE In mice, HyC-KIT N822K induced a myeloproliferative disease, whereas HyC-KIT 571+14 induces both myeloproliferative disease and lymphocytic leukemia. 21262832 2011