Gastrointestinal Stromal Tumors
|
|
0.850 |
CausalMutation
|
CLINVAR |
|
|
|
GASTROINTESTINAL STROMAL TUMOR, FAMILIAL
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
Cutaneous Mastocytosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
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
|
|
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
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Familial gastrointestinal stromal tumours with germline mutation of the KIT gene.
|
9697690 |
1998 |
Gastrointestinal Stromal Tumors
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.
|
9438854 |
1998 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.
|
9438854 |
1998 |
melanoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors.
|
9438854 |
1998 |
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 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours.
|
11276010 |
2001 |
melanoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Gain-of-function mutation at the extracellular domain of KIT in gastrointestinal stromal tumours.
|
11276010 |
2001 |
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 |
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
|
|
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
|
|
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
|
|
0.700 |
CausalMutation
|
CLINVAR |
Inhibition of drug-resistant mutants of ABL, KIT, and EGF receptor kinases.
|
16046538 |
2005 |
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
|
|
0.850 |
GeneticVariation
|
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
Gastrointestinal Stromal Tumors
|
|
0.850 |
GeneticVariation
|
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
Gastrointestinal Stromal Tumors
|
|
0.850 |
GeneticVariation
|
CLINVAR |
An update on molecular genetics of gastrointestinal stromal tumours.
|
16731599 |
2006 |
melanoma
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Somatic activation of KIT in distinct subtypes of melanoma.
|
16908931 |
2006 |
melanoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Somatic activation of KIT in distinct subtypes of melanoma.
|
16908931 |
2006 |
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
|
|
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 |