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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:myelodysplastic syndrome
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Accession:DOID:0050908 term browser browse the term
Definition:Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
Synonyms:exact_synonym: Hematopoetic Myelodysplasia;   MDS;   dysmyelopoietic syndrome;   dysmyelopoietic syndromes;   hematopoetic myelodysplasias;   myelodysplastic syndromes
 narrow_synonym: MYELODYSPLASIA;   myelodysplastic syndrome progressed to acute myeloid leukemia
 related_synonym: myelodysplastic syndrome, susceptibility to
 primary_id: MESH:D009190
 alt_id: OMIM:614286
 xref: GARD:7132;   NCI:C3247
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
myelodysplastic syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc1b actin related protein 2/3 complex, subunit 1B treatment ISO RGD PMID:22608605 RGD:11046272 NCBI chr12:11,252,300...11,265,849
Ensembl chr12:11,252,296...11,265,865 		JBrowse link
G Asxl1 ASXL transcriptional regulator 1 treatment
disease_progression		 ISO ClinVar Annotator: match by term: Myelodysplasia
ClinVar Annotator: match by term: Myelodysplastic syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:		 OMIM
ClinVar
CTD		 PMID:22237106, PMID:25741868, PMID:27992414, PMID:24045501, PMID:23099237, PMID:24216483, PMID:21576631 RGD:11038769, RGD:10450876, RGD:11038712, RGD:11038707 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452 		JBrowse link
G Atg7 autophagy related 7 ISS OMIM:614286 MouseDO NCBI chr 4:146,570,113...146,777,093
Ensembl chr 4:146,598,413...146,777,124 		JBrowse link
G Atrx ATRX, chromatin remodeler ISO CTD Direct Evidence: marker/mechanism CTD PMID:19157545 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878 		JBrowse link
G Bap1 Brca1 associated protein 1 ISS OMIM:614286 MouseDO NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511 		JBrowse link
G Bcl2l10 BCL2 like 10 susceptibility
treatment		 ISO DNA:SNP:cds:p.Leu21Arg rs2231292)(human) RGD PMID:24047476, PMID:21760590 RGD:11058140, RGD:14392809 NCBI chr 8:82,288,705...82,294,750
Ensembl chr 8:82,288,705...82,294,744 		JBrowse link
G Bmi1 BMI1 proto-oncogene, polycomb ring finger ISO CTD Direct Evidence: marker/mechanism CTD PMID:24571310 NCBI chr17:85,360,439...85,370,283
Ensembl chr17:85,364,483...85,368,208 		JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, monocyte (human) RGD PMID:17805323 RGD:11520793 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704 		JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO DNA:deletion: : RGD PMID:9171997 RGD:10450601 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A severity ISO DNA:hypermethylation: : RGD PMID:20658957 RGD:11251750 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175 		JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B disease_progression
treatment		 ISO DNA:altered methylation: :
CTD Direct Evidence: marker/mechanism
DNA:hypermethylation: :
DNA:altered methylation:promoter:		 CTD PMID:17294728, PMID:20658957, PMID:23683424, PMID:17611569 RGD:11251750, RGD:11252195, RGD:11252169 NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104 		JBrowse link
G Cflar CASP8 and FADD-like apoptosis regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:16105982, PMID:14562111 RGD:11341680 NCBI chr 9:65,534,608...65,586,395
Ensembl chr 9:65,534,704...65,587,251 		JBrowse link
G Crebbp CREB binding protein ISS OMIM:614286 MouseDO NCBI chr10:11,590,994...11,721,039
Ensembl chr10:11,595,044...11,721,039 		JBrowse link
G Csf3r colony stimulating factor 3 receptor disease_progression ISO DNA:SNP:cds:p.E785K(human)
Protein:decreased expression:CD34++ cell:		 RGD PMID:15644419, PMID:12670333 RGD:10450471, RGD:10450504 NCBI chr 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600 		JBrowse link
G Ctnna1 catenin alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17330099 NCBI chr18:27,923,229...28,055,972
Ensembl chr18:27,923,572...28,055,960 		JBrowse link
G Dapk1 death associated protein kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19874806 NCBI chr17:4,297,038...4,454,941
Ensembl chr17:4,297,224...4,454,778 		JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Myelodysplasia ClinVar PMID:25741868, PMID:26712909, PMID:27133828, PMID:32098966 NCBI chr17:9,631,925...9,637,317
Ensembl chr17:9,631,925...9,637,316 		JBrowse link
G Ddx42 DEAD-box helicase 42 ISO mRNA:decreased expression:bone marrow mononuclear cell (human) RGD PMID:16211284 RGD:9850279 NCBI chr10:94,407,094...94,439,052
Ensembl chr10:94,407,559...94,439,052 		JBrowse link
G Dlk1 delta like non-canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18575777 NCBI chr 6:133,576,513...133,583,751
Ensembl chr 6:133,552,821...133,583,751 		JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha disease_progression ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Myelodysplastic syndrome
DNA:missense mutation:exon:p.R882 (human)		 ClinVar PMID:1423634, PMID:2717398, PMID:10325416, PMID:10433969, PMID:10555141, PMID:10647011, PMID:11399089, PMID:12138111, PMID:12359337, PMID:12575993, PMID:15063176, PMID:15672446, PMID:15739230, PMID:16357870, PMID:16501171, PMID:16725135, PMID:17445268, PMID:17878930, PMID:19344873, PMID:19854944, PMID:20228804, PMID:20651149, PMID:20729844, PMID:21067377, PMID:21507354, PMID:21518476, PMID:21844811, PMID:22160010, PMID:22495306, PMID:22722925, PMID:22744846, PMID:22898539, PMID:22898541, PMID:23849776, PMID:24606448, PMID:24614070, PMID:24622842, PMID:24656771, PMID:26619011, PMID:26866722, PMID:26876596, PMID:27701732, PMID:27991732, PMID:28386848, PMID:28475857, PMID:28492532, PMID:28667884, PMID:28941052, PMID:31042466, PMID:21415852, PMID:22066015 RGD:11041122, RGD:11041124 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577 		JBrowse link
G Egr1 early growth response 1 ISS OMIM:614286 MouseDO NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429 		JBrowse link
G Epo erythropoietin ISO CTD Direct Evidence: therapeutic CTD PMID:12670338, PMID:16076383 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266 		JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit disease_progression ISO DNA:SNP: :p.K751Q (rs13181) (human) RGD PMID:25154760, PMID:26482462 RGD:11252197, RGD:11075607 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344 		JBrowse link
G Etv6 ETS variant transcription factor 6 ISO DNA:translocation: :
DNA:deletion: :		 RGD PMID:12203785, PMID:18476590, PMID:9171997 RGD:1581019, RGD:10450605, RGD:10450601 NCBI chr 4:167,754,684...167,992,370
Ensembl chr 4:167,754,525...167,992,168 		JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity ISO DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:bone marrow, mononuclear cell (human)		 CTD PMID:20601954, PMID:22869879, PMID:21125401 RGD:10450880, RGD:10450887 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011 		JBrowse link
G Fas Fas cell surface death receptor ISO mRNA,protein:increased expression:bone marrow:
protein:increased expression:peripheral blood mononuclear cell:		 RGD PMID:9557605, PMID:15686130 RGD:11049447, RGD:11049448 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790 		JBrowse link
G Faslg Fas ligand ISO mRNA,protein:increased expression:bone marrow:
protein:decreased expression:peripheral blood mononuclear cell:		 RGD PMID:9557605, PMID:15686130 RGD:11049447, RGD:11049448 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705 		JBrowse link
G Fcgr3a Fc fragment of IgG receptor IIIa ISO RGD PMID:24264604 RGD:11352253 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051 		JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia ClinVar PMID:22417203 NCBI chr12:9,360,439...9,437,004
Ensembl chr12:9,360,672...9,436,570 		JBrowse link
G Gata1 GATA binding protein 1 severity
disease_progression		 ISO CTD Direct Evidence: marker/mechanism
mRNA:increased expression:bone marrow		 CTD PMID:28963909, PMID:15572684, PMID:12145700, PMID:17570514 RGD:10450734, RGD:10450753, RGD:10450752 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066 		JBrowse link
G Gata2 GATA binding protein 2 severity ISO ClinVar Annotator: match by term: Myelodysplastic syndrome
CTD Direct Evidence: marker/mechanism
mRNA:increased expression:bone marrow:
ClinVar Annotator: match by OMIM:614286		 OMIM
ClinVar
CTD		 PMID:20040766, PMID:21242295, PMID:21670465, PMID:21765025, PMID:21892158, PMID:21892162, PMID:22147895, PMID:23365458, PMID:25676417, PMID:25741868, PMID:27992414, PMID:28492532, PMID:12145700 RGD:10450753 NCBI chr 4:120,129,028...120,142,490
Ensembl chr 4:120,133,713...120,142,488 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO mRNA:decreased expression:bone marrow: RGD PMID:18371060 RGD:11040459 NCBI chr14:3,058,035...3,073,332
Ensembl chr14:3,058,993...3,068,371 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Myelodysplastic syndrome ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818, PMID:32963807 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
treatment		 ISO RGD PMID:16620556, PMID:15595630 RGD:10450800, RGD:10450836 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO DNA:missense mutation:cds:313A>G (p.I105V)(human) RGD PMID:23278642 RGD:10755416 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 disease_progression
no_association		 ISO RGD PMID:8569364, PMID:23859717, PMID:9164324 RGD:10450772, RGD:10450840, RGD:10450779 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526 		JBrowse link
G Hdac1 histone deacetylase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28963909 NCBI chr 5:147,716,664...147,743,723
Ensembl chr 5:147,716,664...147,743,723 		JBrowse link
G Hfe homeostatic iron regulator ISO DNA:missense mutations:cds:p.H63D, p.C282Y (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:17001480, PMID:12624489 RGD:10755559 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO ClinVar PMID:11150980, PMID:12210337, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17250658, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18247425, PMID:18470943, PMID:18978862, PMID:19206176, PMID:19371735, PMID:19382114, PMID:19669404, PMID:20660566, PMID:20979192, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22926243, PMID:23751039, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:25157968, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686 		JBrowse link
G Idh1 isocitrate dehydrogenase (NADP(+)) 1 disease_progression ISO DNA:mutation: :
ClinVar Annotator: match by term: MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO		 ClinVar PMID:18772396, PMID:19657110, PMID:19798509, PMID:19818334, PMID:20946881, PMID:21352804, PMID:21446021, PMID:22160010, PMID:22397365, PMID:22417203, PMID:22898539, PMID:23558169, PMID:24606448, PMID:25043048, PMID:25157968, PMID:25741868, PMID:26619011, PMID:24936872 RGD:11522722 NCBI chr 9:71,882,108...71,911,645
Ensembl chr 9:71,882,105...71,900,044 		JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO ClinVar Annotator: match by term: MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Myelodysplastic syndrome		 ClinVar PMID:20171147, PMID:20847235, PMID:20946881, PMID:21250968, PMID:21596855, PMID:21889589, PMID:21997850, PMID:22160010, PMID:22397365, PMID:22417203, PMID:22616558, PMID:22898539, PMID:23558173, PMID:23815907, PMID:23949315, PMID:24049096, PMID:24606448, PMID:25157968, PMID:25326635, PMID:25398939, PMID:25741868, PMID:26619011, PMID:28492532 NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705 		JBrowse link
G Il1b interleukin 1 beta ISO mRNA:increased expression:bone marrow RGD PMID:10697556 RGD:10450881 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726 		JBrowse link
G Itgb3 integrin subunit beta 3 ISO RGD PMID:16121636 RGD:10755468 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410 		JBrowse link
G Kmt2e lysine methyltransferase 2E ISO RGD PMID:18952892 RGD:9588548 NCBI chr 4:8,187,751...8,255,578
Ensembl chr 4:8,187,751...8,255,514 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27992414 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO ClinVar PMID:11150980, PMID:12210337, PMID:14608654, PMID:16155195, PMID:16170316, PMID:16329078, PMID:16372351, PMID:16443854, PMID:16835863, PMID:16881968, PMID:16969868, PMID:17054105, PMID:17250658, PMID:17412879, PMID:17979197, PMID:18039947, PMID:18247425, PMID:18470943, PMID:18978862, PMID:19206176, PMID:19371735, PMID:19382114, PMID:19669404, PMID:20660566, PMID:20979192, PMID:21834037, PMID:21850009, PMID:22087699, PMID:22317973, PMID:22499344, PMID:22683711, PMID:22926243, PMID:23751039, PMID:24033266, PMID:24129065, PMID:24169525, PMID:24224811, PMID:25157968, PMID:25741868, PMID:25914166, PMID:26619011, PMID:27195699, PMID:27589201, PMID:28027064, PMID:28139825, PMID:28390077, PMID:28492532, PMID:29073591, PMID:29493581, PMID:31775759 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184 		JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO CTD Direct Evidence: marker/mechanism CTD PMID:16094422 NCBI chr19:25,815,207...25,818,074
Ensembl chr19:25,815,207...25,818,074 		JBrowse link
G Mdm2 MDM2 proto-oncogene no_association ISO DNA:SNP:cds:309T>G(rs2279744)(human) RGD PMID:22668018 RGD:11073731 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328 		JBrowse link
G Mefv MEFV innate immuity regulator, pyrin susceptibility ISO DNA:polymorphisms:cds:p.M694V,E148Q(human) RGD PMID:22351163 RGD:11531114 NCBI chr10:12,045,813...12,056,229
Ensembl chr10:12,046,541...12,056,311 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism: :66A>G(human) RGD PMID:18774170 RGD:11075096 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015 		JBrowse link
G Mybl2 MYB proto-oncogene like 2 ISS OMIM:614286 MouseDO NCBI chr 3:159,421,638...159,450,087
Ensembl chr 3:159,421,671...159,450,086 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10914558 NCBI chr 7:102,586,313...102,591,240
Ensembl chr 7:102,586,313...102,591,240 		JBrowse link
G Npm1 nucleophosmin 1 ISS
ISO		 OMIM:614286
ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia		 MouseDO
ClinVar		 PMID:15659725, PMID:20026798, PMID:32581362 NCBI chr10:18,080,949...18,091,062
Ensembl chr10:18,080,950...18,090,950 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 no_association ISO DNA:missense mutation:cds:609C>T (p.P187S) (human) RGD PMID:23643325 RGD:10769356 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180 		JBrowse link
G Nras NRAS proto-oncogene, GTPase disease_progression ISO ClinVar Annotator: match by term: MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Myelodysplastic syndrome
ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia		 ClinVar PMID:2278970, PMID:2407301, PMID:2674680, PMID:2989702, PMID:3102434, PMID:3122217, PMID:8120410, PMID:10598665, PMID:12460918, PMID:14982869, PMID:15046639, PMID:15831708, PMID:15951308, PMID:16273091, PMID:16291983, PMID:16434492, PMID:16518851, PMID:17332249, PMID:17384584, PMID:17517660, PMID:17699718, PMID:18375819, PMID:18390968, PMID:18633438, PMID:18794081, PMID:18948947, PMID:18952898, PMID:19047918, PMID:19075190, PMID:19657110, PMID:19775298, PMID:19966803, PMID:20130576, PMID:20179705, PMID:20619739, PMID:20736745, PMID:21079152, PMID:21263000, PMID:21305640, PMID:21729679, PMID:21829508, PMID:22144181, PMID:22407852, PMID:22499344, PMID:22962325, PMID:23134356, PMID:23414587, PMID:23431193, PMID:23515407, PMID:23614898, PMID:24033266, PMID:24284627, PMID:25157968, PMID:26619011, PMID:28098151, PMID:28492532, PMID:28594414, PMID:23708912 RGD:11535060 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791 		JBrowse link
G Plcb1 phospholipase C beta 1 severity
treatment		 ISO mRNA:decreased expression:bone marrow, blood, mononuclear cell (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:19805378, PMID:16820933, PMID:21109771 RGD:11535164, RGD:11535956 NCBI chr 3:127,721,244...128,419,565
Ensembl chr 3:128,155,069...128,419,545 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISS OMIM:614286 MouseDO NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031 		JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO mRNA:increased expression:bone marrow, blood (human) RGD PMID:24763007 RGD:11535028 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878 		JBrowse link
G Rap1gap Rap1 GTPase-activating protein ISO mRNA:increased expression:bone marrow, mononuclear cells (human) RGD PMID:18551404 RGD:9835346 NCBI chr 5:156,008,868...156,074,350
Ensembl chr 5:156,026,911...156,074,395 		JBrowse link
G Runx1 RUNX family transcription factor 1 disease_progression ISO DNA:missense mutations, nonsense mutation, frameshift mutations: :multiple
CTD Direct Evidence: marker/mechanism		 CTD PMID:27992414, PMID:17910630 RGD:11251705 NCBI chr11:32,765,147...33,003,061
Ensembl chr11:32,769,165...33,003,021 		JBrowse link
G Samd9 sterile alpha motif domain containing 9 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:614286		 CTD
MouseDO		 PMID:27182967 NCBI chr 4:28,304,967...28,324,637
Ensembl chr 4:28,305,002...28,310,178 		JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia OMIM
ClinVar		 PMID:21909114, PMID:21995386, PMID:23395771 NCBI chr 9:61,594,620...61,634,510
Ensembl chr 9:61,594,620...61,634,510 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO ClinVar PMID:26619011 NCBI chr 1:220,645,685...220,665,611
Ensembl chr 1:220,645,672...220,665,603 		JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO mRNA:decreased expression:PBMCs (human) RGD PMID:12802501 RGD:1580610 NCBI chr10:39,201,101...39,228,090
Ensembl chr10:39,201,107...39,323,853 		JBrowse link
G Smpd3 sphingomyelin phosphodiesterase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18283525 NCBI chr19:38,237,963...38,321,572
Ensembl chr19:38,237,965...38,321,528 		JBrowse link
G Sphk1 sphingosine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18283525 NCBI chr10:105,498,728...105,504,401
Ensembl chr10:105,498,728...105,504,393 		JBrowse link
G Srsf11 serine and arginine rich splicing factor 11 ISO mRNA:splice variant:bone marrow, hematopoietic stem cell (human) RGD PMID:24244432 RGD:11038800 NCBI chr 2:264,837,463...264,864,296
Ensembl chr 2:264,837,472...264,864,265 		JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO
ISS		 DNA:missense mutations:cds:multiple (human)
OMIM:614286		 MouseDO PMID:23280334 RGD:11039052 NCBI chr10:105,792,779...105,795,986
Ensembl chr10:105,792,779...105,795,958 		JBrowse link
G Stag2 stromal antigen 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27992414 NCBI chr  X:128,493,603...128,624,418
Ensembl chr  X:128,493,614...128,624,418 		JBrowse link
G Tert telomerase reverse transcriptase severity ISO mRNA:splice variants:cds
ClinVar Annotator: match by term: Myelodysplasia		 ClinVar PMID:25741868, PMID:29463756, PMID:24844605, PMID:19270495 RGD:11038659, RGD:11038661 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 severity ISO CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple
DNA:missense mutations, nonsense mutations, splice-site mutation:multiple		 OMIM
CTD		 PMID:19483684, PMID:27992414, PMID:23099237, PMID:20693430 RGD:10450876, RGD:11038679 NCBI chr 2:238,719,389...238,802,975
Ensembl chr 2:238,720,835...238,803,024 		JBrowse link
G Tlr2 toll-like receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28963909 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061 		JBrowse link
G Tnf tumor necrosis factor disease_progression ISO protein:increased expression:serum
mRNA:increased expression:bone marrow		 RGD PMID:15888251, PMID:10697556 RGD:10450530, RGD:10450881 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Tp53 tumor protein p53 disease_progression
treatment
no_association		 ISO DNA:mutation: :
ClinVar Annotator: match by term: MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
DNA:SNP:cds: p.R72P(rs1042522)(human) 		ClinVar
CTD		 PMID:1359493, PMID:1565143, PMID:1631137, PMID:1683921, PMID:1978757, PMID:2046748, PMID:7887414, PMID:8062826, PMID:8099841, PMID:8425176, PMID:8527048, PMID:9242456, PMID:9290701, PMID:9546439, PMID:9569050, PMID:9598730, PMID:9825943, PMID:10411893, PMID:10797439, PMID:11051239, PMID:11139324, PMID:11180592, PMID:11479205, PMID:11782540, PMID:11793474, PMID:11920959, PMID:12826609, PMID:15004724, PMID:15381368, PMID:15722483, PMID:15825182, PMID:16489069, PMID:16682957, PMID:16818505, PMID:16861262, PMID:17417627, PMID:17427234, PMID:17606709, PMID:18511570, PMID:19378321, PMID:19556618, PMID:20013323, PMID:20113312, PMID:20128691, PMID:20407015, PMID:20522432, PMID:21187651, PMID:21305319, PMID:21343334, PMID:21519010, PMID:21552135, PMID:21601526, PMID:21761402, PMID:22110706, PMID:22186996, PMID:22265402, PMID:22713868, PMID:22915647, PMID:22919068, PMID:23161690, PMID:23172776, PMID:23246812, PMID:23538418, PMID:23667202, PMID:23950206, PMID:24033266, PMID:24038938, PMID:24381225, PMID:24487413, PMID:24501221, PMID:24573247, PMID:24603336, PMID:24641375, PMID:24651012, PMID:24810334, PMID:25157968, PMID:25525159, PMID:25584008, PMID:25741868, PMID:25925845, PMID:25952993, PMID:26230955, PMID:26467025, PMID:26585234, PMID:26619011, PMID:26787237, PMID:26822237, PMID:26845104, PMID:27276561, PMID:27374712, PMID:27463065, PMID:27680515, PMID:27683180, PMID:27895058, PMID:27959731, PMID:27992414, PMID:28152038, PMID:28369373, PMID:28472496, PMID:28492532, PMID:28724667, PMID:29025599, PMID:29478780, PMID:29489754, PMID:29752822, PMID:30076369, PMID:30327374, PMID:31775759, PMID:24836762, PMID:25412846, PMID:25573287, PMID:22668018, PMID:24043769 RGD:11073714, RGD:11057925, RGD:11075071, RGD:11073731, RGD:11073729 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449 		JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MYELODYSPLASTIC SYNDROME, SUSCEPTIBILITY TO
ClinVar Annotator: match by term: Myelodysplastic syndrome		 CTD
ClinVar		 PMID:22158538, PMID:23029227, PMID:23861105, PMID:24498085, PMID:26619011 NCBI chr20:10,396,652...10,407,564
Ensembl chr20:10,396,621...10,407,554 		JBrowse link
G Xrcc1 X-ray repair cross complementing 1 no_association ISO DNA:SNP: :p.R280H (human)
DNA:SNP: :p.R194W, p.R399Q (human)		 RGD PMID:26482462, PMID:26482462 RGD:11075607, RGD:11075607 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678 		JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISO RGD PMID:15705784 RGD:1580640 NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27992414 NCBI chr  X:32,304,707...32,327,419
Ensembl chr  X:32,304,757...32,328,364 		JBrowse link
Alpha-Thalassemia Myelodysplasia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Acquired hemoglobin H disease
ClinVar Annotator: match by OMIM:300448		 OMIM
ClinVar		 PMID:1415255, PMID:9326931, PMID:10398237, PMID:10417298, PMID:10570185, PMID:10602370, PMID:11015451, PMID:11050622, PMID:12032728, PMID:12116232, PMID:12673795, PMID:12858175, PMID:16118346, PMID:16722615, PMID:16813605, PMID:16955409, PMID:18409179, PMID:19005673, PMID:20500465, PMID:21653732, PMID:24289169, PMID:24327140, PMID:24805811, PMID:25741868, PMID:28371197, PMID:28371217, PMID:28492532 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878 		JBrowse link
Anemia, Refractory, with Excess of Blasts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc5 baculoviral IAP repeat-containing 5 ISO RGD PMID:18426652 RGD:11038658 NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413 		JBrowse link
G C3 complement C3 disease_progression ISO RGD PMID:9741227 RGD:11041158 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167 		JBrowse link
G Cfb complement factor B disease_progression ISO RGD PMID:9741227 RGD:11041158 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:18426652 RGD:11038658 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476 		JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 disease_progression ISO RGD PMID:25200248 RGD:11038682 NCBI chr 2:238,719,389...238,802,975
Ensembl chr 2:238,720,835...238,803,024 		JBrowse link
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, autosomal dominant ClinVar
OMIM		 PMID:3653362, PMID:26491070 NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235 		JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:128,750,503...128,760,880
Ensembl chr 6:128,750,795...128,760,880 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive
ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
ClinVar Annotator: match by OMIM:205950		 OMIM
ClinVar		 PMID:19412178, PMID:21393332, PMID:25326635, PMID:25741868, PMID:25985931, PMID:28492532 NCBI chr 8:128,790,348...128,802,988
Ensembl chr 8:128,790,348...128,802,989 		JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO ClinVar Annotator: match by term: Sideroblastic anemia 3, pyridoxine-refractory ClinVar
OMIM		 PMID:17485548, PMID:20364084, PMID:25342667, PMID:26100117, PMID:30660387 NCBI chr 6:128,750,503...128,760,880
Ensembl chr 6:128,750,795...128,760,880 		JBrowse link
Autosomal Sideroblastic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia ClinVar PMID:25741868 NCBI chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283 		JBrowse link
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srp72 signal recognition particle 72 ISO ClinVar Annotator: match by OMIM:614675
ClinVar Annotator: match by term: Bone marrow failure syndrome 1		 ClinVar
OMIM		 PMID:22541560, PMID:25741868, PMID:28492532 NCBI chr14:33,447,583...33,453,788 JBrowse link
Ghosal Hematodiaphyseal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbxas1 thromboxane A synthase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ghosal syndrome
ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome
ClinVar Annotator: match by OMIM:231095		 OMIM
CTD
ClinVar		 PMID:17203301, PMID:18264100, PMID:25741868 NCBI chr 4:66,624,181...66,846,745
Ensembl chr 4:66,670,618...66,846,805 		JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by OMIM:617021
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia		 ClinVar
OMIM		 PMID:23541342, PMID:24033266, PMID:25741868, PMID:26537577, PMID:26970254 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369 		JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 member 2 ISO ClinVar Annotator: match by term: Anemia, hypochromic microcytic, with iron overload 1 OMIM
ClinVar		 PMID:15459009, PMID:16023393, PMID:16091455, PMID:16140868, PMID:16160008, PMID:16439678, PMID:25741868, PMID:28492532 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212 		JBrowse link
paroxysmal nocturnal hemoglobinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C3 complement C3 ISO protein:increased processing:erythrocyte RGD PMID:6915939 RGD:11040769 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167 		JBrowse link
G C5 complement C5 ISO ClinVar Annotator: match by term: Eculizumab, poor response to OMIM
ClinVar		 PMID:24521109 NCBI chr 3:14,049,993...14,113,931
NCBI chr 3:14,206,466...14,229,141
Ensembl chr 3:14,049,995...14,229,080 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 treatment ISO RGD PMID:22206707 RGD:11352266 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis, class A ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
CTD Direct Evidence: marker/mechanism
associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human)
ClinVar Annotator: match by OMIM:300818		 OMIM
ClinVar
CTD		 PMID:8167330, PMID:8500164, PMID:8541558, PMID:8557259, PMID:9019395, PMID:9233558, PMID:9787183, PMID:10220445, PMID:15720958, PMID:16767100, PMID:25741868, PMID:28492532, PMID:12424196 RGD:11087560 NCBI chr  X:31,786,823...31,799,751
Ensembl chr  X:31,786,194...31,799,560 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1		 CTD
ClinVar		 PMID:25417052, PMID:25741868 NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739 		JBrowse link
G RT1-Ba RT1 class II, locus Ba ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721 		JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:12070003 RGD:11041765 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711 		JBrowse link
Paroxysmal Nocturnal Hemoglobinuria 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2
ClinVar Annotator: match by OMIM:615399		 OMIM
ClinVar		 PMID:23733340 NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739 		JBrowse link
Primary Lymphedema with Myelodysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acad9 acyl-CoA dehydrogenase family, member 9 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:22147895, PMID:23223431, PMID:28492532 NCBI chr 2:122,782,051...122,806,166
Ensembl chr 2:122,782,060...122,805,768 		JBrowse link
G Gata2 GATA binding protein 2 ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar Annotator: match by OMIM:614038		 OMIM
ClinVar		 PMID:2543925, PMID:20040766, PMID:20803646, PMID:21242295, PMID:21670465, PMID:21765025, PMID:21892158, PMID:21892162, PMID:22147895, PMID:22430350, PMID:22533337, PMID:23223431, PMID:23365458, PMID:23502222, PMID:24033149, PMID:24033266, PMID:24077845, PMID:24266605, PMID:24345756, PMID:24728327, PMID:24754962, PMID:24782121, PMID:25239263, PMID:25326637, PMID:25359990, PMID:25624456, PMID:25676417, PMID:25741868, PMID:25879889, PMID:26445707, PMID:26492932, PMID:26702063, PMID:26710799, PMID:26812071, PMID:27013649, PMID:27418648, PMID:27894982, PMID:28209719, PMID:28492532, PMID:28642594, PMID:29156497, PMID:29724903, PMID:29882021, PMID:30620726 NCBI chr 4:120,129,028...120,142,490
Ensembl chr 4:120,133,713...120,142,488 		JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:22147895, PMID:23223431, PMID:28492532 NCBI chr 4:119,910,461...119,963,065
Ensembl chr 4:119,910,478...119,959,173 		JBrowse link
G Rpn1 ribophorin I ISO ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia ClinVar PMID:22147895, PMID:23223431, PMID:28492532 NCBI chr 4:119,997,232...120,018,687
Ensembl chr 4:119,997,268...120,018,679 		JBrowse link
Refractory Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc5 baculoviral IAP repeat-containing 5 ISO RGD PMID:18426652 RGD:11038658 NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413 		JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum: RGD PMID:10214861 RGD:11049479 NCBI chr 1:101,126,006...101,131,413
Ensembl chr 1:101,124,479...101,131,413 		JBrowse link
G Hfe homeostatic iron regulator no_association ISO associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human)
associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human)		 RGD PMID:17654685, PMID:17654685 RGD:10755539, RGD:10755539 NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985 		JBrowse link
G Tcn2 transcobalamin 2 ISO protein:increased expression:: RGD PMID:1059479 RGD:11060122 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266 		JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:18426652 RGD:11038658 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:10870480 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000 		JBrowse link
G Ybx1 Y box binding protein 1 ISO RGD PMID:14604279 RGD:1580637 NCBI chr 5:138,319,754...138,336,721
Ensembl chr 5:138,319,762...138,336,475 		JBrowse link
sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16892088, PMID:18637800, PMID:18398482 RGD:11038732 NCBI chr  X:75,150,511...75,291,950
Ensembl chr  X:75,150,608...75,291,938 		JBrowse link
G Alad aminolevulinate dehydratase ISO protein:decreased activity:kidney, liver, spleen RGD PMID:5891055 RGD:12904678 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 susceptibility ISO DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism		 CTD PMID:16716198, PMID:16892088, PMID:7949148 RGD:1599037 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341 		JBrowse link
G Calr calreticulin ISO DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) RGD PMID:24325359 RGD:11352763 NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666 		JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19036111 NCBI chr16:20,555,395...20,557,978
Ensembl chr16:20,555,395...20,557,978 		JBrowse link
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18637800 NCBI chr 6:128,750,503...128,760,880
Ensembl chr 6:128,750,795...128,760,880 		JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Sideroblastic anemia, acquired idiopathic ClinVar PMID:9389715 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412178 NCBI chr 8:128,790,348...128,802,988
Ensembl chr 8:128,790,348...128,802,989 		JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16910769, PMID:21326867 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587 		JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:increased expression:erythroblast: RGD PMID:21326867 RGD:11062136 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223 		JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 onset ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1
ClinVar Annotator: match by term: Hereditary sideroblastic anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)
ClinVar Annotator: match by OMIM:300751		 OMIM
ClinVar
CTD		 PMID:1570328, PMID:7705839, PMID:7949148, PMID:8107717, PMID:9488633, PMID:9858242, PMID:10029606, PMID:10444183, PMID:11110715, PMID:12031592, PMID:12531813, PMID:12663458, PMID:16121195, PMID:16446107, PMID:18637800, PMID:18823803, PMID:20848343, PMID:21653323, PMID:22269113, PMID:22740690, PMID:22778251, PMID:22995991, PMID:23315997, PMID:25741868, PMID:28492532, PMID:21252495, PMID:11110715, PMID:7560104 RGD:11035244, RGD:11035243, RGD:11035241 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341 		JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:23,146,085...23,166,676
Ensembl chr  X:23,146,085...23,166,675 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 1 ClinVar PMID:28492532 NCBI chr 8:128,790,348...128,802,988
Ensembl chr 8:128,790,348...128,802,989 		JBrowse link
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay
ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay		 ClinVar
OMIM		 PMID:24033266, PMID:25193871, PMID:25741868, PMID:26494905, PMID:27370603, PMID:27389523, PMID:27531075, PMID:28492532, PMID:29055896, PMID:29358286, PMID:29454993 NCBI chr 4:138,855,497...138,869,217
Ensembl chr 4:138,855,641...138,869,217 		JBrowse link
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 susceptibility ISO DNA:missense mutation: :p.I400M (human)
ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar Annotator: match by term: Anemia sideroblastic and spinocerebellar ataxia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:301310
DNA:missense mutation:exon:p.V411L (1299G>C) (human)
DNA:missense mutation:exon:p.E433K (1305G>A) (human)		 ClinVar
CTD
OMIM		 PMID:4045952, PMID:10196363, PMID:11050011, PMID:11843825, PMID:21326867, PMID:22398176, PMID:25741868, PMID:28492532, PMID:10196363, PMID:11843825, PMID:11050011 RGD:1598600, RGD:11038735, RGD:11038734 NCBI chr  X:75,150,511...75,291,950
Ensembl chr  X:75,150,608...75,291,938 		JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341 		JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic ClinVar NCBI chr 8:128,790,348...128,802,988
Ensembl chr 8:128,790,348...128,802,989 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      myelodysplastic syndrome 111
        Alpha-Thalassemia Myelodysplasia Syndrome 1
        Bone Marrow Failure Syndrome 1 1
        Monosomy 7 of Bone Marrow 0
        Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
        Primary Lymphedema with Myelodysplasia 4
        Refractory Anemia + 27
        paroxysmal nocturnal hemoglobinuria + 7
        sideroblastic anemia + 16
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          Hematologic Neoplasms 836
            Bone Marrow Neoplasms 347
              bone marrow cancer 347
                myelodysplastic syndrome 111
                  Alpha-Thalassemia Myelodysplasia Syndrome 1
                  Bone Marrow Failure Syndrome 1 1
                  Monosomy 7 of Bone Marrow 0
                  Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 0
                  Primary Lymphedema with Myelodysplasia 4
                  Refractory Anemia + 27
                  paroxysmal nocturnal hemoglobinuria + 7
                  sideroblastic anemia + 16
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.