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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:polycythemia
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Accession:DOID:8432 term browser browse the term
Definition:An increase in the total red cell mass of the blood. (Dorland, 27th ed)
Synonyms:exact_synonym: Erythrocytosis;   erythrocythemia;   erythrocytoses;   polycythemias
 narrow_synonym: ERYTHROCYTOSIS, SOMATIC
 related_synonym: HEMOGLOBIN G (Pest);   HEMOGLOBIN INKSTER;   HEMOGLOBIN J (Buda);   HEMOGLOBIN SAN DIEGO;   HEMOGLOBIN SHERWOOD FOREST;   HEMOGLOBIN SOUTH MILWAUKEE;   HEMOGLOBIN TAK
 primary_id: MESH:D011086
 alt_id: OMIA:000809;   RDO:0002546
 xref: NCI:C26863
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
polycythemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO RGD PMID:18339134 RGD:11038827 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Egln1 egl-9 family hypoxia-inducible factor 1 ISO DNA:missense mutation:exon:p.W334R (c.1000 T>C) (human)
DNA:missense mutation: :p.P317R (950C>G) (human)
DNA:missense mutations, nonsense mutation: :multiple
DNA:missense mutations: :p.N203K, p.K291L, p.K423E (human)
RGD PMID:24121508, PMID:23859443, PMID:16407130, PMID:21933857, PMID:21828119 RGD:11251767, RGD:11073369, RGD:11251771, RGD:11251769, RGD:11251768 NCBI chr19:57,660,194...57,701,158
Ensembl chr19:57,662,278...57,699,113
JBrowse link
G Epas1 endothelial PAS domain protein 1 susceptibility ISO DNA:polymorphisms,haplotype: :rs13419896, rs12619696(human)
DNA:missense mutation:cds: 2097G>A,p.G537R(human)
RGD PMID:25792003, PMID:18650473 RGD:11041568, RGD:11041573 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1653276, PMID:1954391, PMID:4052634, PMID:7795221, PMID:8093406, PMID:8174675, PMID:8506290, PMID:8608241, PMID:9292543, PMID:9394420, PMID:9488636, PMID:9649565, PMID:10498627, PMID:16484586, PMID:17488692, PMID:24115288, PMID:26010769, PMID:28492532, PMID:11158582, PMID:8400289 RGD:734937, RGD:11041647 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G Gh1 growth hormone 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15161484 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1634355 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hbb hemoglobin subunit beta ISO DNA:point mutation:CDS:p.P100L (human
ClinVar Annotator: match by term: Erythrocytosis
ClinVar Annotator: match by term: HEMOGLOBIN SAN DIEGO
ClinVar Annotator: match by term: HEMOGLOBIN SHERWOOD FOREST
ClinVar Annotator: match by term: HEMOGLOBIN SOUTH MILWAUKEE
ClinVar Annotator: match by term: HEMOGLOBIN TAK
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:590504, PMID:1117598, PMID:2363414, PMID:2703368, PMID:3957694, PMID:4101432, PMID:4808644, PMID:7161106, PMID:7204093, PMID:7417488, PMID:7615400, PMID:7918091, PMID:9494047, PMID:12621249, PMID:15768557, PMID:18818920, PMID:19429541, PMID:19460936, PMID:20353353, PMID:20395516, PMID:22145566, PMID:23859443, PMID:26467025, PMID:26544676, PMID:4719677 RGD:1600891 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Polycythemia ClinVar PMID:15781101, PMID:15793561, PMID:15858187, PMID:16081687, PMID:16247455, PMID:16293597, PMID:16325696, PMID:16603627, PMID:16707754, PMID:16709929, PMID:16762626, PMID:17989398, PMID:18256599, PMID:18394554, PMID:19036091, PMID:19287384, PMID:19293426, PMID:20339092, PMID:20631743, PMID:20703299, PMID:21120162, PMID:21689158, PMID:22041374, PMID:22422826, PMID:22571758, PMID:22818858, PMID:22829971, PMID:23115274, PMID:24404189, PMID:24986690, PMID:25043017, PMID:25157968, PMID:25671252, PMID:25741868, PMID:32581362 NCBI chr 1:247,473,292...247,476,827
Ensembl chr 1:247,473,292...247,476,827
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Polycythemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15781101, PMID:15793561, PMID:15858187, PMID:16081687, PMID:16247455, PMID:16293597, PMID:16325696, PMID:16603627, PMID:16707754, PMID:16709929, PMID:16762626, PMID:17267906, PMID:17989398, PMID:18256599, PMID:18394554, PMID:19036091, PMID:19287384, PMID:19293426, PMID:20339092, PMID:20631743, PMID:20703299, PMID:21120162, PMID:21689158, PMID:22041374, PMID:22422826, PMID:22571758, PMID:22818858, PMID:22829971, PMID:23115274, PMID:24404189, PMID:24986690, PMID:25043017, PMID:25157968, PMID:25671252, PMID:25741868, PMID:32581362, PMID:19413997, PMID:15793561 RGD:10449378, RGD:10449392 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Serpine1 serpin family E member 1 IEP associated with Anoxia;mRNA:increased expression:heart right ventricle, heart left ventricle (rat) RGD PMID:9405184 RGD:11080746 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC ClinVar PMID:15705783, PMID:20843259, PMID:25741868, PMID:27651169, PMID:28484264, PMID:29590070 NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22926781 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Polycythemia ClinVar PMID:15642680, PMID:28492532, PMID:16210343 RGD:1580368 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
familial erythrocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epor erythropoietin receptor no_association ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign
ClinVar Annotator: match by term: Familial erythrocytosis, 1
ClinVar Annotator: match by OMIM:133100
DNA:deletion mutation:exon:
DNA:nonsense mutation:exon:5881G>T(human)
DNA:nonsense mutation:cds:6002G>A(human)
DNA:nonsense mutation:cds:1251G>T(human)
OMIM
ClinVar
PMID:1653276, PMID:1954391, PMID:4052634, PMID:7795221, PMID:8093406, PMID:8174675, PMID:8506290, PMID:8608241, PMID:9292543, PMID:9394420, PMID:9488636, PMID:9649565, PMID:10498627, PMID:17488692, PMID:24115288, PMID:26010769, PMID:28492532, PMID:9192789, PMID:11929803, PMID:9394420, PMID:8506290, PMID:20700488 RGD:11041638, RGD:11041631, RGD:11041608, RGD:11041605, RGD:11041601 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign ClinVar PMID:15781101, PMID:15793561, PMID:15858187, PMID:16081687, PMID:16247455, PMID:16293597, PMID:16325696, PMID:16603627, PMID:16707754, PMID:16709929, PMID:16762626, PMID:17989398, PMID:18256599, PMID:18394554, PMID:19036091, PMID:19287384, PMID:19293426, PMID:20339092, PMID:20631743, PMID:20703299, PMID:21120162, PMID:21689158, PMID:22041374, PMID:22422826, PMID:22571758, PMID:22818858, PMID:22829971, PMID:23115274, PMID:24404189, PMID:24986690, PMID:25043017, PMID:25157968, PMID:25671252, PMID:25741868, PMID:32581362 NCBI chr 1:247,473,292...247,476,827
Ensembl chr 1:247,473,292...247,476,827
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign OMIM
ClinVar
PMID:15781101, PMID:15793561, PMID:15858187, PMID:16081687, PMID:16247455, PMID:16293597, PMID:16325696, PMID:16603627, PMID:16707754, PMID:16709929, PMID:16762626, PMID:17989398, PMID:18256599, PMID:18394554, PMID:19036091, PMID:19287384, PMID:19293426, PMID:20339092, PMID:20631743, PMID:20703299, PMID:21120162, PMID:21689158, PMID:22041374, PMID:22422826, PMID:22571758, PMID:22818858, PMID:22829971, PMID:23115274, PMID:24404189, PMID:24986690, PMID:25043017, PMID:25157968, PMID:25671252, PMID:25741868, PMID:32581362 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Familial erythrocytosis, 1
ClinVar Annotator: match by OMIM:133100
OMIM
ClinVar
PMID:15705783, PMID:20843259, PMID:25741868, PMID:27651169, PMID:28484264, PMID:29590070 NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
JBrowse link
familial erythrocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 2 ClinVar PMID:8634692, PMID:10567493, PMID:10830910, PMID:17537157, PMID:19280651, PMID:19764026, PMID:20567917, PMID:28492532 NCBI chr 4:145,559,206...145,574,438
Ensembl chr 4:145,559,206...145,574,438
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 2 ClinVar PMID:8634692, PMID:10567493, PMID:10830910, PMID:17537157, PMID:19280651, PMID:19764026, PMID:20567917, PMID:28492532 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 2 ClinVar PMID:8634692, PMID:10567493, PMID:10830910, PMID:17537157, PMID:19280651, PMID:19764026, PMID:20567917, PMID:28492532 NCBI chr 4:145,549,248...145,556,054
Ensembl chr 4:145,552,270...145,555,748
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:21685897 RGD:6483049 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 2
ClinVar Annotator: match by term: POLYCYTHEMIA, VHL-DEPENDENT
OMIM
ClinVar
PMID:982991, PMID:1056348, PMID:2101665, PMID:7553625, PMID:7563486, PMID:7660122, PMID:7728151, PMID:7759077, PMID:7784063, PMID:7915601, PMID:7977367, PMID:7987306, PMID:7987327, PMID:8069305, PMID:8187067, PMID:8239848, PMID:8270255, PMID:8493574, PMID:8522307, PMID:8592333, PMID:8634692, PMID:8641976, PMID:8707293, PMID:8730290, PMID:8772572, PMID:8825918, PMID:8825919, PMID:8863170, PMID:8956040, PMID:9058738, PMID:9156047, PMID:9209471, PMID:9215674, PMID:9329368, PMID:9398721, PMID:9399847, PMID:9447969, PMID:9452032, PMID:9663592, PMID:9671762, PMID:9681856, PMID:9751722, PMID:9770531, PMID:9829911, PMID:9829912, PMID:9880225, PMID:10088816, PMID:10102622, PMID:10205047, PMID:10326868, PMID:10340905, PMID:10364675, PMID:10408776, PMID:10458336, PMID:10563480, PMID:10567493, PMID:10570625, PMID:10587522, PMID:10612827, PMID:10627136, PMID:10761708, PMID:10766184, PMID:10823831, PMID:10830910, PMID:10862095, PMID:10878807, PMID:10900011, PMID:11024059, PMID:11058902, PMID:11106358, PMID:11114638, PMID:11257211, PMID:11309459, PMID:11331612, PMID:11331613, PMID:11409863, PMID:11483638, PMID:11505222, PMID:11536052, PMID:11709017, PMID:11739384, PMID:11865071, PMID:11921283, PMID:11986208, PMID:11987242, PMID:12000816, PMID:12004076, PMID:12050673, PMID:12081237, PMID:12114495, PMID:12202531, PMID:12351569, PMID:12393546, PMID:12414898, PMID:12415268, PMID:12500216, PMID:12510195, PMID:12538644, PMID:12603429, PMID:12624160, PMID:12702509, PMID:12807974, PMID:12844285, PMID:12853836, PMID:12912922, PMID:13985160, PMID:14500403, PMID:14556007, PMID:14604959, PMID:14691445, PMID:14722919, PMID:14726398, PMID:14767570, PMID:14973063, PMID:14987375, PMID:15002726, PMID:15109448, PMID:15177666, PMID:15300849, PMID:15574766, PMID:15607616, PMID:15611064, PMID:15642664, PMID:15642680, PMID:15881703, PMID:15921368, PMID:15921386, PMID:15932632, PMID:16142346, PMID:16210343, PMID:16261165, PMID:16314641, PMID:16452184, PMID:16488999, PMID:16502427, PMID:16505488, PMID:16572651, PMID:16595991, PMID:16669786, PMID:16775032, PMID:16809612, PMID:16868829, PMID:16884327, PMID:16884328, PMID:16952288, PMID:16969113, PMID:17006605, PMID:17024664, PMID:17102069, PMID:17102080, PMID:17102082, PMID:17102083, PMID:17102088, PMID:17264095, PMID:17350623, PMID:17392848, PMID:17406817, PMID:17526729, PMID:17537157, PMID:17640059, PMID:17661816, PMID:17688370, PMID:17906660, PMID:17922902, PMID:17967880, PMID:17992257, PMID:18205710, PMID:18446368, PMID:18544564, PMID:18551016, PMID:18567581, PMID:18580449, PMID:18584357, PMID:18676741, PMID:18685280, PMID:18836774, PMID:19009041, PMID:19029228, PMID:19030229, PMID:19215943, PMID:19228690, PMID:19252526, PMID:19258401, PMID:19270817, PMID:19280651, PMID:19293973, PMID:19304954, PMID:19336503, PMID:19408298, PMID:19464396, PMID:19494350, PMID:19574279, PMID:19602254, PMID:19620968, PMID:19763184, PMID:19764026, PMID:19808854, PMID:19814753, PMID:19906784, PMID:19949673, PMID:19958924, PMID:19996202, PMID:20034980, PMID:20054297, PMID:20064270, PMID:20120764, PMID:20151405, PMID:20233476, PMID:20351605, PMID:20388653, PMID:20447124, PMID:20518900, PMID:20567917, PMID:20583150, PMID:20660572, PMID:20846682, PMID:20850701, PMID:20855504, PMID:20952280, PMID:21204227, PMID:21258414, PMID:21362373, PMID:21389259, PMID:21454469, PMID:21463266, PMID:21606165, PMID:21685897, PMID:21713522, PMID:21715564, PMID:21876117, PMID:21972040, PMID:21993671, PMID:22071692, PMID:22105611, PMID:22105711, PMID:22156657, PMID:22234250, PMID:22241717, PMID:22357542, PMID:22393103, PMID:22438210, PMID:22462637, PMID:22517557, PMID:22649785, PMID:22683710, PMID:22703879, PMID:22799452, PMID:22825683, PMID:23015148, PMID:23036577, PMID:23070752, PMID:23102223, PMID:23143947, PMID:23327821, PMID:23384228, PMID:23403324, PMID:23407287, PMID:23434161, PMID:23512077, PMID:23538339, PMID:23541568, PMID:23606570, PMID:23626751, PMID:23632291, PMID:23660872, PMID:23772956, PMID:23788753, PMID:23840444, PMID:23842656, PMID:23845641, PMID:23859443, PMID:23990664, PMID:23990666, PMID:24033266, PMID:24055113, PMID:24102379, PMID:24115288, PMID:24132471, PMID:24134185, PMID:24206762, PMID:24301059, PMID:24339559, PMID:24446253, PMID:24466223, PMID:24518179, PMID:24555745, PMID:24581539, PMID:24583008, PMID:24678776, PMID:24707167, PMID:24727139, PMID:24728327, PMID:24729484, PMID:24969085, PMID:24977658, PMID:25069792, PMID:25078357, PMID:25119015, PMID:25157968, PMID:25282218, PMID:25371412, PMID:25557216, PMID:25562111, PMID:25563310, PMID:25583177, PMID:25586603, PMID:25637381, PMID:25715769, PMID:25720320, PMID:25741868, PMID:25867206, PMID:25952756, PMID:25966224, PMID:25985138, PMID:26206375, PMID:26211615, PMID:26224408, PMID:26268347, PMID:26323595, PMID:26332594, PMID:26467025, PMID:26503325, PMID:26580448, PMID:26681312, PMID:26822237, PMID:26845104, PMID:26920352, PMID:26973240, PMID:27034144, PMID:27057652, PMID:27146957, PMID:27311873, PMID:27439424, PMID:27498913, PMID:27527340, PMID:27530247, PMID:27539324, PMID:27578599, PMID:27617348, PMID:27651169, PMID:27682873, PMID:27730413, PMID:27785399, PMID:27811160, PMID:28052007, PMID:28202063, PMID:28379443, PMID:28388566, PMID:28454591, PMID:28469506, PMID:28492532, PMID:28503092, PMID:28643803, PMID:28775317, PMID:28873162, PMID:28944243, PMID:29124493, PMID:29616089, PMID:29748190, PMID:29749453, PMID:29790589, PMID:29871882, PMID:29891534, PMID:29949369, PMID:30042107, PMID:30105105, PMID:30311386, PMID:30338240, PMID:30477447, PMID:30943211, PMID:31034483, PMID:31149315, PMID:31337753, PMID:31779674, PMID:32238909 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
familial erythrocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egln1 egl-9 family hypoxia-inducible factor 1 ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 3
ClinVar Annotator: match by OMIM:609820
OMIM
ClinVar
PMID:16407130, PMID:17579185, PMID:19092153, PMID:24482100, PMID:25741868, PMID:28492532, PMID:29790589 NCBI chr19:57,660,194...57,701,158
Ensembl chr19:57,662,278...57,699,113
JBrowse link
familial erythrocytosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epas1 endothelial PAS domain protein 1 ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 4
ClinVar Annotator: match by OMIM:611783
OMIM
ClinVar
PMID:18184961, PMID:18378852, PMID:19208626, PMID:25741868, PMID:28492532 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
familial erythrocytosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epo erythropoietin ISO ClinVar Annotator: match by term: ERYTHROCYTOSIS, FAMILIAL, 5 ClinVar
OMIM
PMID:27651169, PMID:29514032 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
familial erythrocytosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: ERYTHROCYTOSIS 6
ClinVar Annotator: match by term: Erythrocytosis 6, familial
ClinVar Annotator: match by term: POLYCYTHEMIA, BETA-GLOBIN TYPE
ClinVar
OMIM
PMID:124, PMID:14973, PMID:20942, PMID:27132, PMID:29054, PMID:88735, PMID:234980, PMID:239863, PMID:563749, PMID:639985, PMID:678476, PMID:750556, PMID:826083, PMID:903694, PMID:949044, PMID:1052179, PMID:1052180, PMID:1117598, PMID:1164510, PMID:1164511, PMID:1246355, PMID:1249207, PMID:1390250, PMID:1427786, PMID:1463768, PMID:1483699, PMID:1634236, PMID:1634368, PMID:1734721, PMID:1769663, PMID:1917531, PMID:1967205, PMID:2004023, PMID:2200760, PMID:2298457, PMID:2446680, PMID:2577233, PMID:2703368, PMID:2713503, PMID:2867271, PMID:2898955, PMID:2903765, PMID:3114176, PMID:3207692, PMID:3348204, PMID:3422218, PMID:3462712, PMID:3623972, PMID:3691763, PMID:3839762, PMID:3930571, PMID:3935609, PMID:3957694, PMID:4338724, PMID:4342316, PMID:4413656, PMID:4514629, PMID:4639015, PMID:4683875, PMID:4719677, PMID:4742453, PMID:4808644, PMID:5011106, PMID:5026295, PMID:5073564, PMID:5080413, PMID:5128393, PMID:5280664, PMID:5282843, PMID:5347519, PMID:5492847, PMID:5651043, PMID:5687529, PMID:5773089, PMID:5775133, PMID:5796352, PMID:6061751, PMID:6061752, PMID:6067323, PMID:6162860, PMID:6166590, PMID:6188062, PMID:6189507, PMID:6190800, PMID:6264391, PMID:6264477, PMID:6270663, PMID:6280057, PMID:6304979, PMID:6457059, PMID:6500987, PMID:6546989, PMID:6583702, PMID:6585831, PMID:6589624, PMID:6629830, PMID:6714226, PMID:6745619, PMID:6874372, PMID:6896219, PMID:7097767, PMID:7151176, PMID:7158624, PMID:7161106, PMID:7204092, PMID:7204093, PMID:7312624, PMID:7417488, PMID:7522523, PMID:7558878, PMID:7615400, PMID:7668219, PMID:8095930, PMID:8168595, PMID:8330981, PMID:8373896, PMID:8602996, PMID:8619407, PMID:8917506, PMID:9048934, PMID:9101280, PMID:9101288, PMID:9140720, PMID:9401495, PMID:9490703, PMID:10335979, PMID:10335989, PMID:10612821, PMID:10722117, PMID:11559932, PMID:11857746, PMID:11939509, PMID:11939510, PMID:12144057, PMID:12764548, PMID:14081243, PMID:14117783, PMID:14576320, PMID:15108284, PMID:15654898, PMID:16291734, PMID:16311287, PMID:16470532, PMID:17331080, PMID:17365006, PMID:17795074, PMID:18294253, PMID:18603555, PMID:18818920, PMID:19000664, PMID:19254853, PMID:19429541, PMID:20132300, PMID:20301599, PMID:20395516, PMID:20412082, PMID:20437613, PMID:20704537, PMID:21119755, PMID:21228398, PMID:21389146, PMID:21417574, PMID:21797703, PMID:22271886, PMID:22335963, PMID:22392582, PMID:22975760, PMID:23162295, PMID:23234478, PMID:23321370, PMID:23348723, PMID:23425204, PMID:23590658, PMID:23637309, PMID:23859443, PMID:24033266, PMID:24857915, PMID:25087612, PMID:25089872, PMID:25155404, PMID:25332589, PMID:25525159, PMID:25572186, PMID:25741868, PMID:25849334, PMID:25856402, PMID:26029792, PMID:26097845, PMID:26193974, PMID:26467025, PMID:26635043, PMID:27263053, PMID:27427187, PMID:27690257, PMID:27821015, PMID:28366028, PMID:28391758, PMID:28492532, PMID:28635337, PMID:28670940, PMID:29695942, PMID:30311386, PMID:31714438, PMID:32581362 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
familial erythrocytosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: ERYTHROCYTOSIS 7 ClinVar
OMIM
PMID:11123, PMID:701083, PMID:701092, PMID:1390944, PMID:1428951, PMID:1517114, PMID:1634355, PMID:2268670, PMID:3142772, PMID:3583768, PMID:3667323, PMID:3718876, PMID:5913291, PMID:5967288, PMID:5988206, PMID:6188720, PMID:7213661, PMID:7518430, PMID:8745434, PMID:9494049 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
familial erythrocytosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpgm bisphosphoglycerate mutase ISO ClinVar Annotator: match by term: BISPHOSPHOGLYCERATE MUTASE DEFICIENCY
DNA:point mutation, deletion: :p.R89C (human)
ClinVar Annotator: match by OMIM:222800
OMIM
ClinVar
PMID:152321, PMID:1421379, PMID:2542247, PMID:15054810, PMID:25015942, PMID:1421379 RGD:1600522 NCBI chr 4:61,912,210...61,940,697
Ensembl chr 4:61,912,210...61,940,696
JBrowse link
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22341971, PMID:22926781 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
JBrowse link
polycythemia vera term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l1 Bcl2-like 1 ISO protein:increased expression:bone marrow, erythroid cell (human) RGD PMID:9475763 RGD:11353849 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Elane elastase, neutrophil expressed ISO
IMP
protein:increased expression:plasma: RGD PMID:18768782, PMID:12186827 RGD:10450556, RGD:10450557 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G Epor erythropoietin receptor ISO mRNA:decreased expression:blood cell: RGD PMID:9207443 RGD:11041603 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G Gsr glutathione-disulfide reductase ISO protein:increased activity:erythrocyte: RGD PMID:8569275 RGD:11059504 NCBI chr16:62,197,617...62,239,987
Ensembl chr16:62,197,617...62,241,361
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO RGD PMID:22018952 RGD:10450875 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Hba-a2 hemoglobin alpha, adult chain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1634355 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
G Hbb hemoglobin subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HEMOGLOBIN VILLEJUIF
CTD
ClinVar
PMID:2816924, PMID:5773089, PMID:11300351 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
G Hfe homeostatic iron regulator susceptibility
no_association
ISO DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human)
DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human)
RGD PMID:19258483, PMID:19258483 RGD:10755491, RGD:10755491 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Polycythemia vera
ClinVar Annotator: match by term: Polycythemia rubra vera
ClinVar PMID:15781101, PMID:15793561, PMID:15858187, PMID:16081687, PMID:16247455, PMID:16293597, PMID:16325696, PMID:16603627, PMID:16707754, PMID:16709929, PMID:16762626, PMID:17989398, PMID:18256599, PMID:18394554, PMID:19036091, PMID:19287384, PMID:19293426, PMID:20339092, PMID:20631743, PMID:20703299, PMID:21120162, PMID:21689158, PMID:22041374, PMID:22422826, PMID:22571758, PMID:22818858, PMID:22829971, PMID:23115274, PMID:24404189, PMID:24986690, PMID:25043017, PMID:25157968, PMID:25671252, PMID:25741868, PMID:28492532, PMID:32581362 NCBI chr 1:247,473,292...247,476,827
Ensembl chr 1:247,473,292...247,476,827
JBrowse link
G Jak1 Janus kinase 1 ISO ClinVar Annotator: match by term: Polycythemia vera ClinVar PMID:16239216, PMID:19139102, PMID:19470474, PMID:19838194, PMID:21436584, PMID:21680795 NCBI chr 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Polycythemia rubra vera
ClinVar Annotator: match by term: Polycythemia vera
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:15781101, PMID:15793561, PMID:15858187, PMID:16081687, PMID:16247455, PMID:16293597, PMID:16325696, PMID:16484586, PMID:16603627, PMID:16707754, PMID:16709929, PMID:16762626, PMID:17267906, PMID:17989398, PMID:18256599, PMID:18394554, PMID:18717827, PMID:19036091, PMID:19154659, PMID:19287382, PMID:19287384, PMID:19293426, PMID:20160369, PMID:20339092, PMID:20631743, PMID:20703299, PMID:21120162, PMID:21689158, PMID:21942426, PMID:22041374, PMID:22422826, PMID:22571758, PMID:22818858, PMID:22829971, PMID:23115274, PMID:24404189, PMID:24986690, PMID:25043017, PMID:25157968, PMID:25671252, PMID:25741868, PMID:28492532, PMID:32581362, PMID:15781101 RGD:1627655 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
primary polycythemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egln1 egl-9 family hypoxia-inducible factor 1 ISO ClinVar Annotator: match by term: Familial erythrocytosis ClinVar NCBI chr19:57,660,194...57,701,158
Ensembl chr19:57,662,278...57,699,113
JBrowse link
G Epas1 endothelial PAS domain protein 1 ISO ClinVar Annotator: match by term: Familial erythrocytosis ClinVar NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Familial erythrocytosis ClinVar NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      hematopoietic system disease 1643
        polycythemia 25
          Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis 1
          acquired polycythemia + 0
          physiological polycythemia 0
          plethora of newborn 0
          primary polycythemia + 21
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Hemic and Lymphatic Diseases 2047
        hematopoietic system disease 1643
          bone marrow disease 473
            polycythemia 25
              Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis 1
              acquired polycythemia + 0
              physiological polycythemia 0
              plethora of newborn 0
              primary polycythemia + 21
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.