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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Myelodysplasia
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Accession:HP:0002863 term browser browse the term
Definition:Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia.
Synonyms:exact_synonym: Myelodysplastic syndrome
 related_synonym: Hypoplastic myelodysplasia
 alt_id: HP:0004832;   HP:0006730
 xref: EFO:0000198;   SNOMEDCT_US:109995007;   SNOMEDCT_US:128623006;   SNOMEDCT_US:188736006;   UMLS:C1851971;   UMLS:C3463824


show annotations for term's descendants           Sort by:
Myelodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:124 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide IAGP HPO MIM:619151 NCBI chr 4:99,070,978...99,088,788
Ensembl chr 4:99,070,978...99,088,801 		JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP ClinVar Annotator: match by term: Myelodysplastic syndrome
ClinVar Annotator: match by term: Myelodysplasia		 ClinVar
HPO		 PMID:16412590 PMID:20880116 PMID:21576631 PMID:21706002 PMID:21881046 More... MIM:614286 ORPHA:98849 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATRX ATRX chromatin remodeler IAGP HPO MIM:300448 ORPHA:231401 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:500 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRIP1 BRCA1 interacting DNA helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467 		JBrowse link
G CALR calreticulin IAGP HPO ORPHA:3318 NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G CDKN2A cyclin dependent kinase inhibitor 2A IAGP HPO ORPHA:524 NCBI chr 9:21,967,752...21,995,324
Ensembl chr 9:21,967,752...21,995,301 		JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO ORPHA:1052 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CHEK2 checkpoint kinase 2 IAGP HPO ORPHA:524 NCBI chr22:28,687,743...28,741,834
Ensembl chr22:28,687,743...28,742,422 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:486 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G CSF3R colony stimulating factor 3 receptor IAGP HPO MIM:162830 NCBI chr 1:36,466,043...36,483,314
Ensembl chr 1:36,466,043...36,483,278 		JBrowse link
G DDX41 DEAD-box helicase 41 IAGP ClinVar Annotator: match by term: Myelodysplasia
ClinVar Annotator: match by term: Myelodysplastic syndrome		 ClinVar
HPO		 PMID:25741868 PMID:26712909 PMID:27133828 PMID:27795557 PMID:28492532 More... MIM:616871 NCBI chr 5:177,511,577...177,516,961
Ensembl chr 5:177,511,577...177,516,961 		JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO MIM:305000 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689 		JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO MIM:260400 ORPHA:811 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964 		JBrowse link
G DNMT3A DNA methyltransferase 3 alpha IAGP ClinVar Annotator: match by term: Myelodysplastic syndrome ClinVar NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590 		JBrowse link
G EFL1 elongation factor like GTPase 1 IAGP HPO ORPHA:811 NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773 		JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:486 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G ERBB2 erb-b2 receptor tyrosine kinase 2 IAGP ClinVar Annotator: match by term: Myelodysplastic syndrome ClinVar PMID:24728327 PMID:25741868 PMID:28492532 PMID:34209587 PMID:36479692 NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP HPO ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO MIM:614082 ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP HPO ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:124 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GATA2 GATA binding protein 2 IAGP ClinVar Annotator: match by term: Myelodysplastic syndrome ClinVar
HPO		 PMID:4508672 PMID:20040766 PMID:21242295 PMID:21670465 PMID:21765025 More... MIM:614038 MIM:614172 MIM:614286 NCBI chr 3:128,479,422...128,493,201
Ensembl chr 3:128,479,427...128,493,201 		JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor IAGP HPO ORPHA:486 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925 		JBrowse link
G GINS1 GINS complex subunit 1 IAGP HPO MIM:617827 NCBI chr20:25,407,673...25,448,563
Ensembl chr20:25,391,008...25,452,700 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Myelodysplastic syndrome HPO
ClinVar		 PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... MIM:614286 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G H4C9 H4 clustered histone 9 IAGP HPO MIM:619951 NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,140,640 		JBrowse link
G HAX1 HCLS1 associated protein X-1 IAGP HPO MIM:610738 NCBI chr 1:154,272,629...154,275,875
Ensembl chr 1:154,272,355...154,275,875 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO ORPHA:124 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G HFE homeostatic iron regulator IAGP DNA:missense mutations:cds:p.H63D, p.C282Y RGD PMID:12624489 RGD:10755559 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G IDH1 isocitrate dehydrogenase (NADP(+)) 1 IAGP ClinVar Annotator: match by term: Myelodysplastic syndrome ClinVar NCBI chr 2:208,236,227...208,255,071
Ensembl chr 2:208,236,229...208,266,074 		JBrowse link
G IDH2 isocitrate dehydrogenase (NADP(+)) 2 IAGP ClinVar Annotator: match by term: Myelodysplastic syndrome ClinVar NCBI chr15:90,083,045...90,102,468
Ensembl chr15:90,083,045...90,102,477 		JBrowse link
G IL2RA interleukin 2 receptor subunit alpha IAGP ClinVar Annotator: match by term: Myelodysplasia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:6,010,689...6,062,367
Ensembl chr10:6,010,689...6,062,370 		JBrowse link
G JAK2 Janus kinase 2 IAGP HPO ORPHA:3318 ORPHA:71493 ORPHA:729 NCBI chr 9:4,984,390...5,129,948
Ensembl chr 9:4,984,390...5,129,948 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase IAGP HPO ORPHA:98849 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO MIM:606593 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811 		JBrowse link
G MDM2 MDM2 proto-oncogene IAGP HPO ORPHA:524 NCBI chr12:68,808,172...68,850,686
Ensembl chr12:68,808,177...68,845,544 		JBrowse link
G MPL MPL proto-oncogene, thrombopoietin receptor IAGP HPO ORPHA:3318 ORPHA:71493 NCBI chr 1:43,337,818...43,354,466
Ensembl chr 1:43,337,818...43,354,466 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: Myelodysplastic syndrome ClinVar PMID:14576046 PMID:15870203 PMID:19460299 PMID:20550934 PMID:22781753 More... NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MYSM1 Myb like, SWIRM and MPN domains 1 IAGP HPO ORPHA:508542 NCBI chr 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090 		JBrowse link
G NAF1 nuclear assembly factor 1 ribonucleoprotein IAGP HPO MIM:620365 NCBI chr 4:163,103,929...163,166,890
Ensembl chr 4:163,110,073...163,166,890 		JBrowse link
G NAGS N-acetylglutamate synthase IAGP HPO ORPHA:927 NCBI chr17:44,004,622...44,009,068
Ensembl chr17:44,004,622...44,009,068 		JBrowse link
G NBEAL2 neurobeachin like 2 IAGP HPO ORPHA:721 NCBI chr 3:46,979,666...47,009,701
Ensembl chr 3:46,979,666...47,009,704 		JBrowse link
G NF1 neurofibromin 1 IAGP HPO ORPHA:97685 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 no_association IAGP DNA:missense mutation:cds:609C>T (p.P187S) RGD PMID:23643325 RGD:10769356 NCBI chr16:69,709,401...69,726,560
Ensembl chr16:69,706,996...69,726,668 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO ORPHA:500 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase IAGP HPO ORPHA:500 NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO MIM:617784 ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
G RPA1 replication protein A1 IAGP HPO MIM:619767 NCBI chr17:1,830,005...1,900,082
Ensembl chr17:1,829,702...1,900,082 		JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO ORPHA:124 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G RPL15 ribosomal protein L15 IAGP HPO ORPHA:124 NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374 		JBrowse link
G RPL18 ribosomal protein L18 IAGP HPO ORPHA:124 NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184 		JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO ORPHA:124 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RPL27 ribosomal protein L27 IAGP HPO ORPHA:124 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959 		JBrowse link
G RPL31 ribosomal protein L31 IAGP HPO ORPHA:124 NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032 		JBrowse link
G RPL35 ribosomal protein L35 IAGP HPO ORPHA:124 NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981 		JBrowse link
G RPL35A ribosomal protein L35a IAGP HPO ORPHA:124 NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610 		JBrowse link
G RPL5 ribosomal protein L5 IAGP HPO ORPHA:124 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPL8 ribosomal protein L8 IAGP HPO ORPHA:124 NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587 		JBrowse link
G RPL9 ribosomal protein L9 IAGP HPO ORPHA:124 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931 		JBrowse link
G RPS10 ribosomal protein S10 IAGP HPO ORPHA:124 NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS14 ribosomal protein S14 IAGP HPO MIM:153550 ORPHA:86841 NCBI chr 5:150,442,635...150,449,739
Ensembl chr 5:150,442,635...150,449,739 		JBrowse link
G RPS15A ribosomal protein S15a IAGP HPO ORPHA:124 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383 		JBrowse link
G RPS17 ribosomal protein S17 IAGP HPO ORPHA:124 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO MIM:105650 ORPHA:124 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:124 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G RPS24 ribosomal protein S24 IAGP HPO ORPHA:124 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO ORPHA:124 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS27 ribosomal protein S27 IAGP HPO ORPHA:124 NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155 		JBrowse link
G RPS28 ribosomal protein S28 IAGP HPO ORPHA:124 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340 		JBrowse link
G RPS29 ribosomal protein S29 IAGP HPO ORPHA:124 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		JBrowse link
G RPS7 ribosomal protein S7 IAGP HPO ORPHA:124 NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920 		JBrowse link
G RUNX1 RUNX family transcription factor 1 IAGP ClinVar Annotator: match by term: Myelodysplasia ClinVar
HPO		 PMID:18723428 PMID:25741868 MIM:601399 NCBI chr21:34,787,801...35,049,302
Ensembl chr21:34,787,801...36,004,667 		JBrowse link
G SAMD9 sterile alpha motif domain containing 9 IAGP ClinVar Annotator: match by term: Myelodysplastic syndrome ClinVar
HPO		 PMID:28492532 PMID:30046003 MIM:617053 MIM:619041 NCBI chr 7:93,099,518...93,117,979
Ensembl chr 7:93,099,513...93,118,023 		JBrowse link
G SAMD9L sterile alpha motif domain containing 9 like IAGP HPO MIM:252270 NCBI chr 7:93,130,056...93,148,385
Ensembl chr 7:93,130,056...93,148,385 		JBrowse link
G SBDS SBDS ribosome maturation factor IAGP HPO MIM:260400 ORPHA:811 NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP ClinVar Annotator: match by term: Myelodysplastic syndrome ClinVar
HPO		 PMID:21909114 PMID:21995386 PMID:25741868 MIM:614286 ORPHA:75564 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: Myelodysplastic syndrome ClinVar NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SH2B3 SH2B adaptor protein 3 IAGP HPO ORPHA:3318 NCBI chr12:111,404,730...111,451,623
Ensembl chr12:111,405,923...111,451,623 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SMARCD2 SWI/SNF related BAF chromatin remodeling complex subunit D2 IAGP HPO MIM:617475 NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065 		JBrowse link
G SRP19 signal recognition particle 19 IAGP HPO ORPHA:486 NCBI chr 5:112,861,287...112,898,371
Ensembl chr 5:112,861,188...112,898,371 		JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO MIM:260400 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
G SRP72 signal recognition particle 72 IAGP HPO MIM:614675 NCBI chr 4:56,467,617...56,503,681
Ensembl chr 4:56,467,617...56,503,681 		JBrowse link
G SRSF2 serine and arginine rich splicing factor 2 IAGP HPO ORPHA:98849 NCBI chr17:76,734,115...76,737,411
Ensembl chr17:76,734,115...76,737,333 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:486 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TERC telomerase RNA component IAGP HPO MIM:127550 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047 		JBrowse link
G TERT telomerase reverse transcriptase IAGP ClinVar Annotator: match by term: Myelodysplasia ClinVar
HPO		 PMID:25741868 PMID:28492532 PMID:29463756 PMID:33718801 MIM:127550 MIM:614742 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 severity IAGP DNA:mutations:multiple
ClinVar Annotator: match by term: Myelodysplastic syndrome		 ClinVar
HPO
RGD		 PMID:25741868 PMID:23099237 MIM:614286 ORPHA:3318 ORPHA:75564 ORPHA:98826 ORPHA:98849, RGD:10450876 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
G TET2-AS1 TET2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Myelodysplastic syndrome ClinVar PMID:25741868 NCBI chr 4:105,171,354...105,352,881
Ensembl chr 4:105,171,354...105,353,011 		JBrowse link
G THPO thrombopoietin IAGP HPO ORPHA:71493 NCBI chr 3:184,371,935...184,379,688
Ensembl chr 3:184,371,935...184,381,968 		JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO MIM:127550 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663 		JBrowse link
G TP53 tumor protein p53 IAGP HPO ORPHA:3318 ORPHA:524 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO ORPHA:1052 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP HPO ORPHA:124 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
G U2AF1 U2 small nuclear RNA auxiliary factor 1 IAGP ClinVar Annotator: match by term: Myelodysplastic syndrome ClinVar NCBI chr21:43,092,956...43,107,578
Ensembl chr21:43,092,956...43,107,570 		JBrowse link
G UBA1 ubiquitin like modifier activating enzyme 1 IAGP HPO MIM:301054 NCBI chr  X:47,190,847...47,215,128
Ensembl chr  X:47,190,861...47,215,128 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
G WRN WRN RecQ like helicase IAGP HPO MIM:277700 NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 IAGP DNA:missense mutation:multiple (human) RGD PMID:28942350 RGD:151232291 NCBI chr  X:15,790,484...15,823,260
Ensembl chr  X:15,790,156...15,830,694 		JBrowse link
Multiple lineage myelodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS14 ribosomal protein S14 IAGP HPO ORPHA:86841 NCBI chr 5:150,442,635...150,449,739
Ensembl chr 5:150,442,635...150,449,739 		JBrowse link
Refractory anemia with ringed sideroblasts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP HPO MIM:133180 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G HSCB HscB mitochondrial iron-sulfur cluster cochaperone IAGP HPO MIM:619523 NCBI chr22:28,742,032...28,757,510
Ensembl chr22:28,742,039...28,757,515 		JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 IAGP HPO MIM:182170 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675 		JBrowse link
G SF3B1 splicing factor 3b subunit 1 IAGP HPO ORPHA:75564 NCBI chr 2:197,389,784...197,435,093
Ensembl chr 2:197,388,515...197,435,079 		JBrowse link
G SLC25A38 solute carrier family 25 member 38 IAGP ClinVar Annotator: match by term: Myelodysplasia with sideroblastosis
ClinVar Annotator: match by term: Refractory anemia with ringed sideroblasts		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:39,383,370...39,397,351
Ensembl chr 3:39,383,370...39,397,351 		JBrowse link
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:75564 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
Single lineage myelodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TET2 tet methylcytosine dioxygenase 2 IAGP HPO ORPHA:98826 NCBI chr 4:105,145,875...105,279,803
Ensembl chr 4:105,145,875...105,279,816 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Abnormality of blood and blood-forming tissues 3783
        Hematological neoplasm 1404
          Myelodysplasia 126
            Bilineage myelodysplasia 0
            Multiple lineage myelodysplasia 1
            Single lineage myelodysplasia + 6
Path 2
Term Annotations click to browse term
  Human phenotype 34423
    Phenotypic abnormality 34374
      Neoplasm 6202
        Neoplasm by anatomical site 6146
          Hematological neoplasm 1404
            Myelodysplasia 126
              Bilineage myelodysplasia 0
              Multiple lineage myelodysplasia 1
              Single lineage myelodysplasia + 6
paths to the root