Proteasome associated autoinflammatory syndrome

Disease Term Disease ID Gene Symbol Classification References Source
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME
324977
PSMB8 Unknown
21129723 21852578 21953331
Orphanet
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
256040MONDO:0054698OMIM:256040
PSMB8 Causal
21881205 21852578 21953331 21129723
CTD ClinVar GWAS catalog HPO
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC
C4749059
PSMA3 Causal — Disgenet
PSMB8 Causal — Disgenet
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
618048C4747989MONDO:0054700
POMP Causal
26524591 26615982 29805043
ClinVar Disgenet GWAS catalog HPO
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3
617591C4747850MONDO:0054699
PSMB4 Causal — ClinVar Disgenet GenCC HPO
PSMB9 Unknown — Disgenet GenCC
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4
619183C5543053MONDO:0030931
PSMG2 Causal
30664889
ClinVar Disgenet HPO
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5
619175C5543027MONDO:0030924
PSMB10 Causal
29947763 31783057
ClinVar Disgenet GWAS catalog HPO
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
620796C5935614MONDO:0968983
PSMB9 Causal — ClinVar Disgenet HPO