Hyper-ige recurrent infection syndrome

Disease Term Disease ID Gene Symbol Classification References Source
HYPER-IGE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
MONDO:0007818
STAT3 Causal
17676033 18602572 22751495 24632714 25962528 31026806 31346092 33045280 33876960 34137790
ClinGen ClinVar Disgenet
HYPER-IGE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
C4722305
CCDC40 Unknown — Disgenet
DOCK8 Unknown — Disgenet
HYPER-IGE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
C4748969MONDO:0032654
ZNF341 Causal
29907690 29907691 37080116
ClinGen ClinVar Disgenet GWAS catalog
DOCK8 Unknown — Disgenet
HYPER-IGE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE
MONDO:0032796
IL6ST Causal
28747427 30309848 33771552 8552649
ClinVar Disgenet
HYPER-IGE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT
MONDO:0800131
IL6ST Causal
32207811
ClinVar Disgenet
HYPER-IGE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE
MONDO:0030069
IL6R Unknown
14680981 15306846 17357077 27899403 31235509 31778705
ClinGen ClinVar Disgenet
HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
MESH:C567925
STAT3 Unknown — CTD
HYPER-IGE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
147060
STAT3 Unknown — HPO
HYPER-IGE SYNDROME 2, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
243700
DOCK8 Unknown — HPO
HYPER-IGE SYNDROME 3, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
618282
ZNF341 Unknown — HPO
HYPER-IGE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
619752C5676920
IL6ST Unknown — Disgenet HPO
HYPER-IGE SYNDROME 4B, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
618523C5193141
IL6ST Unknown — Disgenet HPO
HYPER-IGE SYNDROME 5, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS
618944C5394550
IL6R Unknown — Disgenet HPO
HYPER-IGE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
620532C5848786MONDO:0957807
STAT6 Causal
12646608 20211142 36216080 36758835 36884218 8085155
ClinGen ClinVar Disgenet HPO