Disease: Urticaria Pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042111
Disease: Urticaria Pigmentosa
Urticaria Pigmentosa 		0.060 GeneticVariation disease BEFREE Familial urticaria pigmentosa: report of a family and review of the role of KIT mutations. 22892471 2013
CUI: C0042111
Disease: Urticaria Pigmentosa
Urticaria Pigmentosa 		0.060 GeneticVariation disease LHGDN One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes. 12598308 2003
CUI: C0042111
Disease: Urticaria Pigmentosa
Urticaria Pigmentosa 		0.060 GeneticVariation disease BEFREE Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. 11505412 2001
CUI: C0042111
Disease: Urticaria Pigmentosa
Urticaria Pigmentosa 		0.060 GeneticVariation disease BEFREE Patients with UP have been shown to possess somatic mutations of the c-kit gene. 10354021 1999
CUI: C0042111
Disease: Urticaria Pigmentosa
Urticaria Pigmentosa 		0.060 GeneticVariation disease BEFREE Genomic DNA extracted from peripheral blood mononuclear cells of monozygotic twin patients with urticaria pigmentosa was investigated for mutations of proto-oncogene c-kit. 10354083 1999
CUI: C0042111
Disease: Urticaria Pigmentosa
Urticaria Pigmentosa 		0.060 Biomarker disease BEFREE To determine the role of c-KIT in the pathogenesis of mastocytosis, we examined tissue and cells isolated from a patient with UP and aggressive systemic mastocytosis with massive splenic involvement. 8589724 1996