Specific granule deficiency

Log in to bookmark this disease

Bookmark This Disease

Download as CSV Download as PDF
Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
SPECIFIC GRANULE DEFICIENCY
C0398593MESH:C562873MONDO:0009506
CEBPE Causal
10359588 28369034
CTD, Disgenet, GWAS catalog
SPECIFIC GRANULE DEFICIENCY 1
245480C4551556MONDO:0044207
CEBPE Causal
10216107 10359588 11313242 11435463 26019275 32391290 9371821
ClinVar, Disgenet, GWAS catalog, HPO
SMARCD2 Causal — Disgenet
SPECIFIC GRANULE DEFICIENCY 2
617475C4479548MONDO:0044208
SMARCD2 Causal
28369036 33025377 33279574
ClinVar, Disgenet, GWAS catalog, HPO
All2 Causal2 Unknown1
Related Diseases Diseases that share the most curated genes with Specific granule deficiency.
5 View disease cluster →
Autoinflammation, immunodeficiency, and neutrophil dysfunction syndrome 1 shared geneCEBPE Related via 1 shared gene including CEBPE. Pelger-huet anomaly 1 shared geneCEBPE Related via 1 shared gene including CEBPE. Severe congenital neutropenia 1 shared geneSMARCD2 Related via 1 shared gene including SMARCD2. Promyelocytic leukemia 1 shared geneCEBPE Related via 1 shared gene including CEBPE. Neutropenia 1 shared geneSMARCD2 Related via 1 shared gene including SMARCD2.