rs12942547, STAT3

N. diseases: 7
Disease: SVEINSSON CHORIORETINAL ATROPHY ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SVEINSSON CHORIORETINAL ATROPHY
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
0.010 GeneticVariation BEFREE MDMs from rs12942547 AA disease-risk carriers demonstrated increased STAT3, STAT5a, and STAT5b expression and increased PRR-induced STAT3 and STAT5 phosphorylation relative to GG MDMs. 31732533 2019