AHSA1, activator of HSP90 ATPase activity 1, 10598

N. diseases: 526; N. variants: 3
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200120741
rs200120741
Entrez Id: 10598
Gene Symbol: AHSA1
AHSA1
CUI: C1861303
Disease:
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		0.010 GeneticVariation BEFREE Human macrophages from two patients with Blau syndrome also showed a reduction of both cytokine production and phosphorylation of p38 in response to MDP, indicating that both R314Q mice and cells from patients with Blau syndrome show reduced responses to MDP. 25429073 2015