Aminoacylase deficiency

Disease Term Disease ID Gene Symbol Classification References Source
AMINOACYLASE 1 DEFICIENCY
C1835922137754609924MESH:C538246MONDO:0012368
ACTB Causal — Disgenet
ACY1 Causal
16274666 17562838 16465618
CTD ClinGen ClinVar Disgenet GWAS catalog HPO Orphanet
ABHD14A-ACY1 Unknown — Disgenet
ZNF335 Unknown — Disgenet
AMINOACYLASE DEFICIENCY
C5681074
ABHD14A-ACY1 Unknown — Disgenet
ACY1 Unknown — Disgenet