Disease Term Disease ID Gene Symbol References
Polycythemia C0032461 ACVRL1
CCND1
BPGM
MYRF
TMEM258
CYB5R3
ENG
EPOR 16484586
FBN1
FH
GH1 15161484
HBA1 1634355
HBB 1117598, 7161106
JAK2 17267906
PKLR
VHL 21454469
EGLN1 17579185
SLC30A10 22926781
Autosomal dominant secondary polycythemia 247511 EPO
EGLN1
EPAS1
Primary familial polycythemia 90042 EPOR