Disease Term Disease ID Gene Symbol Classification References Source
OMENN SYNDROME ADA Unknown Disgenet GenCC Orphanet
CHD7 Unknown Disgenet GenCC Orphanet
DCLRE1C Unknown ClinVar Disgenet HPO Orphanet
IFTAP Unknown Disgenet
IL2RG Unknown Disgenet GenCC Orphanet
IL7R Unknown Disgenet GenCC Orphanet
LIG4 Unknown Disgenet GenCC Orphanet
PSMB10 Unknown Disgenet Orphanet
RAG1 Unknown Disgenet GenCC HPO Orphanet
RAG2 Unknown Disgenet GWAS catalog HPO Orphanet