Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0157743
Disease: Vibratory urticaria
Vibratory urticaria
0.620 GeneticVariation disease BEFREE This includes the Mas-related G protein-coupled receptor X2, which might contribute to reactions to diverse antimicrobials and polybasic compounds, and the adhesion G protein-coupled receptor E2, variants of which are associated with familial vibratory urticaria and are activated by mechanical vibration. 29454835 2018
CUI: C0157743
Disease: Vibratory urticaria
Vibratory urticaria
0.620 GeneticVariation disease BEFREE We identified a previously unknown missense substitution in ADGRE2 (also known as EMR2), which was predicted to result in the replacement of cysteine with tyrosine at amino acid position 492 (p.C492Y), as the only nonsynonymous variant cosegregating with vibratory urticaria in two large kindreds. 26841242 2016