Disease Term Disease ID Gene Symbol Classification References Source
SPECIFIC GRANULE DEFICIENCY CEBPE Causal CTD Disgenet GWAS catalog
SMARCD2 Unknown CTD Disgenet GWAS catalog
SPECIFIC GRANULE DEFICIENCY 1 CEBPE Causal ClinVar Disgenet GWAS catalog HPO
SMARCD2 Causal Disgenet
SPECIFIC GRANULE DEFICIENCY 2 SMARCD2 Causal ClinVar Disgenet GWAS catalog HPO