rs121913517, KIT

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 CausalMutation CLINVAR
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
CUI: C2674636
Disease: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
0.700 CausalMutation CLINVAR
Cutaneous Mastocytosis
CUI: C1136033
Disease: Cutaneous Mastocytosis
0.700 CausalMutation CLINVAR
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. 7530509 1995
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. 7530509 1995
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 GeneticVariation UNIPROT Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854 1998
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854 1998
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854 1998
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 GeneticVariation UNIPROT Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. 9697690 1998
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010 2001
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours. 11276010 2001
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 GeneticVariation UNIPROT Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. 11505412 2001
Thymoma
CUI: C0040100
Disease: Thymoma
0.700 CausalMutation CLINVAR Association of KIT exon 9 mutations with nongastric primary site and aggressive behavior: KIT mutation analysis and clinical correlates of 120 gastrointestinal stromal tumors. 12960119 2003
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786 2005
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412. 15790786 2005
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 GeneticVariation UNIPROT A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors. 15824741 2005
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Inhibition of drug-resistant mutants of ABL, KIT, and EGF receptor kinases. 16046538 2005
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 GeneticVariation BEFREE The present case is the first proven case of multiple GIST with a c-kit germline mutation in Korea and is distinguishable from other reported germ-line c-kit mutations because the same 1676 T --> C missense mutation occurs in the normal allele as well as the affected allele, although the significance of the identical mutations remains to be investigated. 16185297 2005
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599 2006
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599 2006
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 GeneticVariation CLINVAR An update on molecular genetics of gastrointestinal stromal tumours. 16731599 2006
melanoma
CUI: C0025202
Disease: melanoma
0.700 GeneticVariation CLINVAR Somatic activation of KIT in distinct subtypes of melanoma. 16908931 2006
melanoma
CUI: C0025202
Disease: melanoma
0.700 CausalMutation CLINVAR Somatic activation of KIT in distinct subtypes of melanoma. 16908931 2006
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 GeneticVariation CLINVAR Ligand-independent autophosphorylation was observed in the mutant KIT with Val559Ile as well as that with Val559Asp, as found in GISTs. 17259998 2007
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.850 GeneticVariation BEFREE Ligand-independent autophosphorylation was observed in the mutant KIT with Val559Ile as well as that with Val559Asp, as found in GISTs. 17259998 2007