Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.060 GeneticVariation disease BEFREE Familial urticaria pigmentosa: report of a family and review of the role of KIT mutations. 22892471 2013
Entrez Id: 3815
Gene Symbol: KIT
KIT
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
Entrez Id: 3815
Gene Symbol: KIT
KIT
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
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.060 GeneticVariation disease BEFREE Patients with UP have been shown to possess somatic mutations of the c-kit gene. 10354021 1999
Entrez Id: 3815
Gene Symbol: KIT
KIT
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
Entrez Id: 3815
Gene Symbol: KIT
KIT
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
Entrez Id: 50616
Gene Symbol: IL22
IL22
0.010 Biomarker disease BEFREE NKp46 regulates the production of serine proteases and IL-22 in human mast cells in urticaria pigmentosa. 25940096 2015
Entrez Id: 9437
Gene Symbol: NCR1
NCR1
0.010 AlteredExpression disease BEFREE NKp46 protein was expressed in human mast cells in urticaria pigmentosa principally of the tryptase-positive/chymase-negative type (MCT), but not in human non-neoplastic skin mast cells of the tryptase-positive/chymase-positive (MCTC) type. 25940096 2015
Entrez Id: 4922
Gene Symbol: NTS
NTS
0.010 AlteredExpression disease BEFREE To measure serum levels of NT, and lesional skin expression of NT and the main NT receptor (NTR-1) in AD, and to compare it with skin expression in chronic urticaria (CU) and urticaria pigmentosa (UP). 24033157 2013
Entrez Id: 4923
Gene Symbol: NTSR1
NTSR1
0.010 AlteredExpression disease BEFREE To measure serum levels of NT, and lesional skin expression of NT and the main NT receptor (NTR-1) in AD, and to compare it with skin expression in chronic urticaria (CU) and urticaria pigmentosa (UP). 24033157 2013
Entrez Id: 24144
Gene Symbol: TFIP11
TFIP11
0.010 AlteredExpression disease BEFREE To measure serum levels of NT, and lesional skin expression of NT and the main NT receptor (NTR-1) in AD, and to compare it with skin expression in chronic urticaria (CU) and urticaria pigmentosa (UP). 24033157 2013
Entrez Id: 3559
Gene Symbol: IL2RA
IL2RA
0.010 Biomarker disease LHGDN Our findings suggest that immunoreactivity for CD25 in cutaneous mast cells may be useful for stratifying adult patients presenting with UP for additional clinical evaluation. 18162781 2008
Entrez Id: 4254
Gene Symbol: KITLG
KITLG
0.010 GeneticVariation disease LHGDN C-kit Asp-816-Val mutation analysis in patients with mastocytosis. 17191042 2007
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.010 Biomarker disease BEFREE Mast cell-derived alpha-MSH may contribute to cutaneous hyperpigmentation as seen in patients with urticaria pigmentosa. 16675966 2006
Entrez Id: 1511
Gene Symbol: CTSG
CTSG
0.010 Biomarker disease BEFREE Determination of the primary structures of human skin chymase and cathepsin G from cutaneous mast cells of urticaria pigmentosa lesions. 8144971 1994