Disease Details | GeDiPNet - Gene Disease Associations & Pathways

Disease Term	Disease ID	Gene Symbol	Classification	References	Source
ERYTHROCYTOSIS FAMILIAL, 1	C4551637	EPOR	Unknown	—	Disgenet
		INSL6	Unknown	—	Disgenet
		JAK2	Unknown	—	Disgenet
		SH2B3	Unknown	—	Disgenet
ERYTHROCYTOSIS, FAMILIAL, 1	133100	EPOR	Unknown	—	HPO
		JAK2	Unknown	—	HPO
		SH2B3	Unknown	—	HPO
ERYTHROCYTOSIS, FAMILIAL, 2	C1837915 263400 MESH:C563918	CEP120	Unknown	—	Disgenet
ERYTHROCYTOSIS, FAMILIAL, 2	C1837915 263400 MESH:C563918	VHL	Unknown	—	CTD Disgenet HPO
ERYTHROCYTOSIS, FAMILIAL, 3	609820 C1853286 MESH:C565221 MONDO:0012353	EGLN1	Causal	—	CTD ClinVar Disgenet GenCC HPO
ERYTHROCYTOSIS, FAMILIAL, 3	609820 C1853286 MESH:C565221 MONDO:0012353	EPAS1	Unknown	—	Disgenet
ERYTHROCYTOSIS, FAMILIAL, 4	611783 C2673187 MESH:C567086 MONDO:0012729	EPAS1	Causal	—	CTD ClinVar Disgenet GenCC HPO
ERYTHROCYTOSIS, FAMILIAL, 5	617907 C4693552 MONDO:0033483	EPO	Causal	—	ClinVar Disgenet GenCC HPO
ERYTHROCYTOSIS, FAMILIAL, 6	617980 C4693822 MONDO:0054801	HBB	Causal	11747442 12908805 14649314 15727901 16282896 16987804 17795074 1814856 18818920 21077764 21250878 22203977 2272838 2363414 23859443 23859762 24200101 24482100 27250824 27312559 27651169 28332377 31132167 31657650 32151172 32913098	CTD ClinGen ClinVar Disgenet HPO
ERYTHROCYTOSIS, FAMILIAL, 7	617981 C4693823 MONDO:0054802	HBA1	Causal	—	ClinGen ClinVar Disgenet GenCC HPO
ERYTHROCYTOSIS, FAMILIAL, 7	617981 C4693823 MONDO:0054802	HBA2	Causal	—	ClinGen ClinVar Disgenet GenCC HPO
ERYTHROCYTOSIS, FAMILIAL, 8	222800 OMIM:222800	BPGM	Unknown	—	CTD HPO

Erythrocytosis