Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519710
rs1057519710
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1368898
Disease:
Adult Teratoma
0.010 GeneticVariation BEFREE Finally, Kit constitutive activation induced by the D814Y mutation increased ESC proliferation and cloning efficiency in vitro and in teratoma assays in vivo. 30566254 2019
dbSNP: rs1057519710
rs1057519710
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C2347762
Disease:
Childhood Teratoma
0.010 GeneticVariation BEFREE Finally, Kit constitutive activation induced by the D814Y mutation increased ESC proliferation and cloning efficiency in vitro and in teratoma assays in vivo. 30566254 2019
dbSNP: rs1057519710
rs1057519710
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0039538
Disease:
Teratoma
0.010 GeneticVariation BEFREE Finally, Kit constitutive activation induced by the D814Y mutation increased ESC proliferation and cloning efficiency in vitro and in teratoma assays in vivo. 30566254 2019
dbSNP: rs1057519761
rs1057519761
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Similarly, in MRL-GIST1 (KIT: p.W557_K558del;Y823D) PLX9486 treatment led to significant tumor regression and strong inhibition of MAPK activation. 30523507 2019
dbSNP: rs121913506
rs121913506
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0039538
Disease:
Teratoma
0.010 GeneticVariation BEFREE Finally, Kit constitutive activation induced by the D814Y mutation increased ESC proliferation and cloning efficiency in vitro and in teratoma assays in vivo. 30566254 2019
dbSNP: rs121913506
rs121913506
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1368898
Disease:
Adult Teratoma
0.010 GeneticVariation BEFREE Finally, Kit constitutive activation induced by the D814Y mutation increased ESC proliferation and cloning efficiency in vitro and in teratoma assays in vivo. 30566254 2019
dbSNP: rs121913506
rs121913506
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C2347762
Disease:
Childhood Teratoma
0.010 GeneticVariation BEFREE Finally, Kit constitutive activation induced by the D814Y mutation increased ESC proliferation and cloning efficiency in vitro and in teratoma assays in vivo. 30566254 2019
dbSNP: rs121913520
rs121913520
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0206754
Disease:
Neuroendocrine Tumors
0.010 GeneticVariation BEFREE PTEN (p.G129K), EGFR (p.E709K), and KIT (p.V555I) were shared mutations between rectal and appendiceal NETs, whereas SMAD4 (p.R361C), ALK (p.G1202R), VHL (p.Q132*), and IDH1 (p.R132H) were concurrently detected between rectal and gastric NETs. 30851333 2019
dbSNP: rs17084733
rs17084733
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease:
Gastrointestinal Stromal Tumors
0.010 GeneticVariation BEFREE We identified the <i>KIT</i> variant rs17084733 as a possible novel genetic biomarker for risk of developing <i>KIT</i>-WT GIST. 30983504 2019
dbSNP: rs3822214
rs3822214
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0221013
Disease:
Mastocytosis, Systemic
0.010 GeneticVariation BEFREE A KIT M541L variant in SM was identified in leukemic cells, normal hematopoietic cells, and buccal mucosal cells, suggesting a germline polymorphism. 30044348 2019
dbSNP: rs993022333
rs993022333
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0278883
Disease:
Metastatic melanoma
0.010 GeneticVariation BEFREE We report a case of an 82-year-old female with metastatic melanoma who was found to have double KIT mutations at V559 and N822I. 31689840 2019
dbSNP: rs121913507
rs121913507
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0376545
Disease:
Hematologic Neoplasms
0.010 GeneticVariation BEFREE The findings also suggest that targeting the SPHK/S1P axis may provide an alternative to tyrosine kinase inhibitors, alone or in combination, for the treatment of aggressive mastocytosis and other hematological malignancies associated with the D816V-KIT mutation. 29643855 2018
dbSNP: rs121913507
rs121913507
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0413235
Disease:
Idiopathic anaphylaxis
0.010 GeneticVariation BEFREE We prospectively enrolled patients with IA (≥3 episodes/y) who then underwent a medical evaluation that included a serum tryptase determination, allele-specific quantitative PCR (ASqPCR) for the KIT D816V mutation, and a bone marrow examination. 28629749 2018
dbSNP: rs121913507
rs121913507
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C4267893
Disease:
Monoclonal mast cell activation syndrome
0.010 GeneticVariation BEFREE ASqPCR for the KIT D816V mutation was a useful adjunct in helping identify those with systemic mastocytosis but not monoclonal mast cell activation syndrome. 28629749 2018
dbSNP: rs121913682
rs121913682
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C4267893
Disease:
Monoclonal mast cell activation syndrome
0.010 GeneticVariation BEFREE ASqPCR for the KIT D816V mutation was a useful adjunct in helping identify those with systemic mastocytosis but not monoclonal mast cell activation syndrome. 28629749 2018
dbSNP: rs121913682
rs121913682
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0376545
Disease:
Hematologic Neoplasms
0.010 GeneticVariation BEFREE The findings also suggest that targeting the SPHK/S1P axis may provide an alternative to tyrosine kinase inhibitors, alone or in combination, for the treatment of aggressive mastocytosis and other hematological malignancies associated with the D816V-KIT mutation. 29643855 2018
dbSNP: rs121913682
rs121913682
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0413235
Disease:
Idiopathic anaphylaxis
0.010 GeneticVariation BEFREE We prospectively enrolled patients with IA (≥3 episodes/y) who then underwent a medical evaluation that included a serum tryptase determination, allele-specific quantitative PCR (ASqPCR) for the KIT D816V mutation, and a bone marrow examination. 28629749 2018
dbSNP: rs3822214
rs3822214
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE The most prevalent mutations among patients with PC are c.1621A>C (rs3822214) in KIT, c.38G>C (rs112445441) in KRAS and c.733G>A (rs28934575) in TP53 genes. 29650325 2018
dbSNP: rs3822214
rs3822214
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE The most prevalent mutations among patients with PC are c.1621A>C (rs3822214) in KIT, c.38G>C (rs112445441) in KRAS and c.733G>A (rs28934575) in TP53 genes. 29650325 2018
dbSNP: rs1057519704
rs1057519704
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0205969
Disease:
Thymic Carcinoma
0.010 GeneticVariation BEFREE At molecular analysis, there were 4 c-KIT mutations (occurring in exon 11 V559A, L576P, Y553N and exon 17 D820E) in thymic carcinomas (typeC), but not in other tumor types (p=0.003). 28212996 2017
dbSNP: rs1057519710
rs1057519710
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0205851
Disease:
Germ cell tumor
0.010 GeneticVariation BEFREE An activating point mutation of the c-KIT tyrosine kinase receptor gene, D816H, has been described in germ cell tumors (GCTs). 27781377 2017
dbSNP: rs1057519710
rs1057519710
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0280135
Disease:
Ovarian germ cell tumour mixed
0.010 GeneticVariation BEFREE A variant c-KIT mutation, D816H, fundamental to the sequential development of an ovarian mixed germ cell tumor and systemic mastocytosis with chronic myelomonocytic leukemia. 27781377 2017
dbSNP: rs1057519710
rs1057519710
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0023480
Disease:
Leukemia, Myelomonocytic, Chronic
0.010 GeneticVariation BEFREE A variant c-KIT mutation, D816H, fundamental to the sequential development of an ovarian mixed germ cell tumor and systemic mastocytosis with chronic myelomonocytic leukemia. 27781377 2017
dbSNP: rs1057519710
rs1057519710
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0220620
Disease:
Gastrointestinal Carcinoid Tumor
0.010 GeneticVariation BEFREE An activating point mutation of the c-KIT tyrosine kinase receptor gene, D816H, has been described in germ cell tumors (GCTs). 27781377 2017
dbSNP: rs1057519710
rs1057519710
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0349639
Disease:
Juvenile Myelomonocytic Leukemia
0.010 GeneticVariation BEFREE A variant c-KIT mutation, D816H, fundamental to the sequential development of an ovarian mixed germ cell tumor and systemic mastocytosis with chronic myelomonocytic leukemia. 27781377 2017