rs587777692, P2RX2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder)
CUI: C1842371
Disease: DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder)
0.800 GeneticVariation UNIPROT A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. 24211385 2014
DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder)
CUI: C1842371
Disease: DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder)
0.800 GeneticVariation UNIPROT Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. 23345450 2013
DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder)
CUI: C1842371
Disease: DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder)
0.800 CausalMutation CLINVAR
Hearing Loss, High-Frequency
CUI: C0018780
Disease: Hearing Loss, High-Frequency
0.010 GeneticVariation BEFREE Similarly, among family members heterozygous for P2RX2 p.V60L, noise exposure exacerbated high-frequency hearing loss in young adulthood. 23345450 2013