rs1568940507, ZNF341

N. diseases: 1
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
CUI: C4748969
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
0.700 CausalMutation CLINVAR A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. 29907691 2018