Disease Term Disease ID Gene Symbol References
Erythrocytosis familial, 1 C4551637 EPO 27651169
EPOR 8506290, 11929803, 17488692, 8608241
HBA1 15921161
HBB 15921161
HIF1A 22274579
JAK2
PKLR 22274579
ATXN2
SH2B3
EGLN2 22274579
ERYTHROCYTOSIS, FAMILIAL, 2 C1837915 VHL 9829912, 12624160, 10567493, 11257211, 16572651, 23512077, 7977367, 10823831, 15002726, 14987375, 23772956, 11309459, 11483638, 10205047, 12603429, 12844285, 25867206, 20064270, 11331613, 19464396, 17688370, 17102083, 19574279, 7987306, 11739384, 21362373, 7728151, 12415268, 23626751, 25562111, 19763184, 12510195, 19030229, 11409863, 19228690, 22799452, 8707293, 9681856, 22071692, 25563310, 19029228, 12000816, 10761708, 23859443, 26920352, 27034144, 15574766, 11987242, 982991, 20855504, 9663592, 20151405, 27439424, 12114495, 9452032, 15300849, 19252526, 14973063, 19408298, 12807974, 27057652, 16142346, 17024664, 19336503, 23327821, 8634692, 19602254, 15611064, 10878807, 15642680, 19996202, 17350623, 20660572, 11331612, 17992257, 10900011, 10408776, 8956040, 24206762, 26973240, 11865071, 15177666, 19494350, 9829911, 9447969, 16261165, 21463266, 7759077, 16314641, 21454469, 12393546, 23840444, 22357542, 17661816, 18567581, 24555745, 8730290, 16452184, 16210343, 9058738, 21715564, 8772572, 8493574, 12202531, 19270817, 24301059, 23632291, 17922902, 27530247, 23407287, 25371412, 7563486, 20447124, 23842656, 14722919, 25557216, 21606165, 24707167, 24115288, 14726398, 18446368, 27527340, 17967880
Erythrocytosis, Familial, 3 C1853286 EGLN1 17579185, 16407130
Erythrocytosis, Familial, 4 C2673187 EPAS1 18184961, 18378852, 22367913, 19208626
ERYTHROCYTOSIS, FAMILIAL, 5 C4693552 EPO 29514032, 27651169, 28283061
ERYTHROCYTOSIS, FAMILIAL, 6 C4693822 HBB
ERYTHROCYTOSIS, FAMILIAL, 7 C4693823 HBA1
HBA2
Familial erythrocytosis C0152264 EPOR 9359528, 9192789