Proteasome-associated autoinflammatory syndrome

Disease Term Disease ID Gene Symbol Classification References Source
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2 C4747989 POMP Causal Pathogenic evidence from ClinVar 29805043 ClinVar
Proteasome-associated autoinflammatory syndrome 324977 PSMB8 Causal Pathogenic evidence from ClinVar - ClinVar
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 C4746851 PSMB8 Causal Pathogenic evidence from ClinVar 20534754, 21129723, 21852578, 21881205, 21953331, 26524591, 26567544 ClinVar
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia C2676254 PRICKLE1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18976727, 21276947 -
TBC1D24 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 C4747850 PSMB9 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26524591 -