Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.120 GeneticVariation group BEFREE A germ-line mutation in KIT resulting in an amino acid substitution in the juxtamembrane region is associated with a syndrome of GIST, hyperpigmentation, and dysphagia, although the prominence of each component varies. 14977822 2004
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.120 GeneticVariation group BEFREE Family members with the germline KIT mutation reported dysphagia, but those without the mutation did not. 11984533 2002
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.120 Biomarker group HPO