Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME	620044 C5774218 MONDO:0859288	DUT	Causal	28073829 33456446 35611808	CTD ClinVar Disgenet HPO
BONE MARROW FAILURE DISORDERS	C2931245 MESH:D000080983	CSF2	Unknown	38348709	CTD Disgenet
BONE MARROW FAILURE SYNDROME	MONDO:0000159	NPM1	Unknown	31570891	ClinGen GWAS catalog
BONE MARROW FAILURE SYNDROME 1	614675 C3808553	SRP72	Unknown	—	Disgenet HPO
BONE MARROW FAILURE SYNDROME 2	615715 C3810350	ERCC6L2	Unknown	—	Disgenet HPO
BONE MARROW FAILURE SYNDROME 2	615715 C3810350	GCK	Unknown	—	Disgenet
BONE MARROW FAILURE SYNDROME 3	617052 C4310744 MONDO:0014887	DNAJC21	Causal	27346687 28062395 29146883 35464845 37226705	ClinGen ClinVar Disgenet GWAS catalog HPO
BONE MARROW FAILURE SYNDROME 4	618116 C4748257 MONDO:0020856	MYSM1	Causal	22184403 24288411 26125289 26220525 26474655 28115216 30735661 32640305 33858043 35295078	ClinGen ClinVar Disgenet HPO
BONE MARROW FAILURE SYNDROME 5	618165 C4748488 MONDO:0032573	TP53	Causal	—	ClinVar Disgenet GenCC HPO
BONE MARROW FAILURE SYNDROME 6	618849 C5394274 MONDO:0030015	MDM4	Unknown	16492744 17105817 29146883 32098966 32300648	ClinGen ClinVar Disgenet HPO

Bone marrow failure syndromes