Annotation Detail

Information
Associated Genes
IL2RA
Associated Variants
IL2RA MUTATION
IL2RA MUTATION
Associated Disease
urticaria pigmentosa
Source Database
DisGeNET
Description
Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels).
Pubmed
25912132
Section of the abstract supporting the evidence
ALL_TEXT_1/3
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
2
Original source reporting the Gene Disease association
BeFree,LHGDN
DisGENET score for the Gene Disease association
0.00408155960286869
Drugs