ONTOLOGY REPORT - ANNOTATIONS


Term:aplastic anemia
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Accession:DOID:12449 term browser browse the term
Definition:A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements.
Synonyms:exact_synonym: Aplastic Anemias;   Hypoplastic Anemia;   Hypoplastic Anemias
 narrow_synonym: APLASTIC ANEMIA, SUSCEPTIBILITY TO;   severe aplastic anemia
 primary_id: MESH:D000741;   RDO:0002430
 alt_id: OMIM:609135
 xref: GARD:5836
For additional species annotation, visit the Alliance of Genome Resources.


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aplastic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd40lg CD40 ligand JBrowse link X 159,703,703 159,714,886 RGD:11352267
G Cd86 CD86 molecule JBrowse link 11 67,060,305 67,117,990 RGD:11354968
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:11554173
G Csf3 colony stimulating factor 3 JBrowse link 10 86,616,785 86,619,160 RGD:11554173
G Dipk1a divergent protein kinase domain 1A JBrowse link 14 2,789,699 2,860,354 RGD:8554872
G Dkc1 dyskerin pseudouridine synthase 1 JBrowse link X 155,844,914 155,862,363 RGD:11251733
G Ephx1 epoxide hydrolase 1 JBrowse link 13 99,271,390 99,300,580 RGD:11252118
RGD:11252120
G Fas Fas cell surface death receptor JBrowse link 1 252,589,785 252,624,790 RGD:11049159
RGD:11049449
G Faslg Fas ligand JBrowse link 13 79,696,811 79,717,581 RGD:1582425
G Flt3lg fms-related tyrosine kinase 3 ligand JBrowse link 1 101,126,006 101,131,413 RGD:11049505
G Gata2 GATA binding protein 2 JBrowse link 4 120,129,028 120,142,490 RGD:11049519
G Gfi1b growth factor independent 1B transcriptional repressor JBrowse link 3 7,190,721 7,203,444 RGD:11040507
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10450858
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450790
RGD:10450878
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:7240710
RGD:8554872
RGD:10755710
RGD:10755690
RGD:10755688
G Kit KIT proto-oncogene receptor tyrosine kinase JBrowse link 14 35,072,131 35,149,638 RGD:12910751
G KitWs KIT proto-oncogene receptor tyrosine kinase; mutant 1 RGD:12910751
G Nbn nibrin JBrowse link 5 29,622,347 29,656,877 RGD:7240710
RGD:8554872
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:8554872
RGD:7240710
G Rpl5 ribosomal protein L5 JBrowse link 14 2,860,963 2,867,397 RGD:8554872
G RT1-Ba RT1 class II, locus Ba JBrowse link 20 4,066,133 4,070,726 RGD:11041765
RGD:11041775
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11041757
RGD:11041775
RGD:11041765
G Sbds SBDS, ribosome maturation factor JBrowse link 12 29,921,443 29,930,602 RGD:7240710
RGD:8554872
G Terc telomerase RNA component JBrowse link 2 116,432,723 116,433,110 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:8554872
RGD:11554173
RGD:11038668
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11073601
RGD:11073606
G Thpo thrombopoietin JBrowse link 11 82,845,676 82,853,439 RGD:11073679
RGD:11073680
G Tinf2 TERF1 interacting nuclear factor 2 JBrowse link 15 34,358,697 34,365,085 RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10449452
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspa9 heat shock protein family A (Hsp70) member 9 JBrowse link 18 27,731,072 27,749,235 RGD:8554872
RGD:7240710
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrx5 glutaredoxin 5 JBrowse link 6 128,750,503 128,760,880 RGD:8554872
RGD:11554173
G Slc25a38 solute carrier family 25, member 38 JBrowse link 8 128,790,348 128,802,988 RGD:7240710
RGD:8554872
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrx5 glutaredoxin 5 JBrowse link 6 128,750,503 128,760,880 RGD:8554872
RGD:7240710
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srp72 signal recognition particle 72 JBrowse link 14 33,447,583 33,453,788 RGD:8554872
RGD:7240710
Bone Marrow Failure Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc6l2 ERCC excision repair 6 like 2 JBrowse link 17 1,325,654 1,421,732 RGD:7240710
RGD:8554872
Bone Marrow Failure Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 JBrowse link 2 60,419,446 60,446,656 RGD:8554872
RGD:7240710
Bone Marrow Failure Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mysm1 myb-like, SWIRM and MPN domains 1 JBrowse link 5 113,902,115 113,939,083 RGD:7240710
RGD:8554872
Bone Marrow Failure Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:7240710
RGD:8554872
Bone Marrow Failure Syndromes term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Csf2 colony stimulating factor 2 JBrowse link 10 39,602,089 39,604,070 RGD:11554173
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 JBrowse link 2 60,419,446 60,446,656 RGD:8554872
RGD:11554173
G Ercc6l2 ERCC excision repair 6 like 2 JBrowse link 17 1,325,654 1,421,732 RGD:11554173
G Srp72 signal recognition particle 72 JBrowse link 14 33,447,583 33,453,788 RGD:11554173
congenital hypoplastic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase JBrowse link 6 26,657,507 26,680,459 RGD:11554173
G Umps uridine monophosphate synthetase JBrowse link 11 70,034,181 70,044,590 RGD:11554173
Diamond-Blackfan anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alox12b arachidonate 12-lipoxygenase, 12R type JBrowse link 10 55,744,646 55,756,524 RGD:8554872
G Alox15b arachidonate 15-lipoxygenase, type B JBrowse link 10 55,773,748 55,783,489 RGD:8554872
G Aloxe3 arachidonate lipoxygenase 3 JBrowse link 10 55,711,996 55,735,915 RGD:8554872
G Arhgef15 Rho guanine nucleotide exchange factor 15 JBrowse link 10 55,532,097 55,545,675 RGD:8554872
G Aurkb aurora kinase B JBrowse link 10 55,625,860 55,632,399 RGD:8554872
G Borcs6 BLOC-1 related complex subunit 6 JBrowse link 10 55,642,070 55,643,924 RGD:8554872
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link 10 55,943,467 55,970,417 RGD:8554872
G Cntrob centrobin, centriole duplication and spindle assembly protein JBrowse link 10 55,901,929 55,927,121 RGD:8554872
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
G Cyb5d1 cytochrome b5 domain containing 1 JBrowse link 10 55,993,206 55,997,429 RGD:8554872
G Dipk1a divergent protein kinase domain 1A JBrowse link 14 2,789,699 2,860,354 RGD:8554872
G Dnah2 dynein, axonemal, heavy chain 2 JBrowse link 10 56,029,022 56,154,602 RGD:8554872
G Efnb3 ephrin B3 JBrowse link 10 56,161,431 56,168,819 RGD:8554872
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 JBrowse link 13 109,624,167 109,629,609 RGD:13592920
G Gh1 growth hormone 1 JBrowse link 10 94,486,204 94,488,181 RGD:11352737
G Gucy2d guanylate cyclase 2D, retinal JBrowse link 10 55,835,695 55,851,235 RGD:8554872
G Hes7 hes family bHLH transcription factor 7 JBrowse link 10 55,704,485 55,710,523 RGD:8554872
G Iqcg IQ motif containing G JBrowse link 11 70,967,228 71,007,708 RGD:8554872
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 JBrowse link 10 55,927,228 55,933,653 RGD:8554872
G Kdm6b lysine demethylase 6B JBrowse link 10 56,000,494 56,009,582 RGD:8554872
G Klf1 Kruppel like factor 1 JBrowse link 19 26,016,289 26,019,557 RGD:10769343
G LOC100361240 ribosomal protein S10-like JBrowse link 15 19,429,486 19,430,032 RGD:8554872
G LOC100361854 ribosomal protein S26-like JBrowse link X 115,495,660 115,496,062 RGD:8554872
RGD:13592920
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit JBrowse link 10 55,997,614 55,998,691 RGD:8554872
G Odf4 outer dense fiber of sperm tails 4 JBrowse link 10 55,510,333 55,516,315 RGD:8554872
G Per1 period circadian regulator 1 JBrowse link 10 55,681,761 55,696,557 RGD:8554872
G Pfas phosphoribosylformylglycinamidine synthase JBrowse link 10 55,571,881 55,593,384 RGD:8554872
G Polr3a RNA polymerase III subunit A JBrowse link 16 717,821 756,002 RGD:8554872
G Rangrf RAN guanine nucleotide release factor JBrowse link 10 55,559,049 55,560,420 RGD:8554872
G RGD1563441 similar to RIKEN cDNA A030009H04 JBrowse link 10 55,940,533 55,941,205 RGD:8554872
G Rpl11 ribosomal protein L11 JBrowse link 5 154,390,809 154,394,412 RGD:8554872
RGD:13592920
G Rpl15 ribosomal protein L15 JBrowse link 15 8,188,717 8,192,153 RGD:13592920
G Rpl26 ribosomal protein L26 JBrowse link 10 55,492,417 55,495,547 RGD:8554872
RGD:13592920
G Rpl35a ribosomal protein L35a JBrowse link 11 70,963,223 70,967,146 RGD:8554872
RGD:13592920
G Rpl5 ribosomal protein L5 JBrowse link 14 2,860,963 2,867,397 RGD:8554872
RGD:13592920
G Rps10 ribosomal protein S10 JBrowse link 20 7,215,762 7,220,331 RGD:8554872
RGD:13592920
G Rps17 ribosomal protein S17 JBrowse link 1 143,167,329 143,169,915 RGD:11554173
G Rps19 ribosomal protein S19 JBrowse link 1 81,750,873 81,756,629 RGD:1599572
RGD:8554872
RGD:11554173
RGD:1599571
G Rps24 ribosomal protein S24 JBrowse link 16 757,390 762,091 RGD:8554872
RGD:13592920
G Rps29 ribosomal protein S29 JBrowse link 6 91,455,333 91,456,709 RGD:13592920
G Rps7 ribosomal protein S7 JBrowse link 6 47,899,525 47,904,389 RGD:8554872
RGD:13592920
G Rpsa ribosomal protein SA JBrowse link 8 128,806,053 128,809,987 RGD:13592920
G Slc25a35 solute carrier family 25, member 35 JBrowse link 10 55,554,911 55,559,083 RGD:8554872
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
G Tmem88 transmembrane protein 88 JBrowse link 10 55,998,530 56,000,225 RGD:8554872
G Tp53 tumor protein p53 JBrowse link 10 56,186,299 56,198,449 RGD:8554872
G Trappc1 trafficking protein particle complex 1 JBrowse link 10 55,924,996 55,926,582 RGD:8554872
G Vamp2 vesicle-associated membrane protein 2 JBrowse link 10 55,675,171 55,679,405 RGD:8554872
G Wrap53 WD repeat containing, antisense to TP53 JBrowse link 10 56,169,024 56,185,800 RGD:8554872
Diamond-Blackfan Anemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dipk1a divergent protein kinase domain 1A JBrowse link 14 2,789,699 2,860,354 RGD:8554872
G Rpl5 ribosomal protein L5 JBrowse link 14 2,860,963 2,867,397 RGD:8554872
G Rps19 ribosomal protein S19 JBrowse link 1 81,750,873 81,756,629 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ikzf4 IKAROS family zinc finger 4 JBrowse link 7 3,061,422 3,098,142 RGD:8554872
G LOC100361854 ribosomal protein S26-like JBrowse link X 115,495,660 115,496,062 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpl26 ribosomal protein L26 JBrowse link 10 55,492,417 55,495,547 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpl15 ribosomal protein L15 JBrowse link 15 8,188,717 8,192,153 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps29 ribosomal protein S29 JBrowse link 6 91,455,333 91,456,709 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100361854 ribosomal protein S26-like JBrowse link X 115,495,660 115,496,062 RGD:8554872
G Rps28 ribosomal protein S28 JBrowse link 7 18,682,071 18,683,440 RGD:7240710
RGD:8554872
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
Diamond-Blackfan Anemia 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpl27 ribosomal protein L27 JBrowse link 10 89,352,864 89,356,563 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps27 ribosomal protein S27 JBrowse link 2 189,572,175 189,573,280 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpl18 ribosomal protein L18 JBrowse link 1 101,700,910 101,703,551 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpl35 ribosomal protein L35 JBrowse link 3 23,294,813 23,297,774 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps15a ribosomal protein S15a JBrowse link 1 187,759,865 187,766,734 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps24 ribosomal protein S24 JBrowse link 16 757,390 762,091 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps17 ribosomal protein S17 JBrowse link 1 143,167,329 143,169,915 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqcg IQ motif containing G JBrowse link 11 70,967,228 71,007,708 RGD:8554872
G Rpl35a ribosomal protein L35a JBrowse link 11 70,963,223 70,967,146 RGD:7240710
RGD:8554872
RGD:11535072
RGD:11535069
Diamond-Blackfan Anemia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dipk1a divergent protein kinase domain 1A JBrowse link 14 2,789,699 2,860,354 RGD:8554872
G Rpl5 ribosomal protein L5 JBrowse link 14 2,860,963 2,867,397 RGD:7240710
RGD:8554872
RGD:11535969
RGD:11535967
RGD:11535132
RGD:11535130
RGD:11535128
RGD:11535122
Diamond-Blackfan Anemia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rpl11 ribosomal protein L11 JBrowse link 5 154,390,809 154,394,412 RGD:7240710
RGD:8554872
RGD:11535122
RGD:11535132
RGD:11535130
RGD:11535967
RGD:11535969
RGD:11535971
Diamond-Blackfan Anemia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps7 ribosomal protein S7 JBrowse link 6 47,899,525 47,904,389 RGD:8554872
RGD:7240710
Diamond-Blackfan Anemia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100361240 ribosomal protein S10-like JBrowse link 15 19,429,486 19,430,032 RGD:8554872
G Rps10 ribosomal protein S10 JBrowse link 20 7,215,762 7,220,331 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia with Microtia and Cleft Palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100361854 ribosomal protein S26-like JBrowse link X 115,495,660 115,496,062 RGD:8554872
G Rps28 ribosomal protein S28 JBrowse link 7 18,682,071 18,683,440 RGD:8554872
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
DIAMOND-BLACKFAN ANEMIA-LIKE term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epo erythropoietin JBrowse link 12 22,274,828 22,278,268 RGD:8554872
RGD:7240710
Fanconi anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:734658
RGD:8554872
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:11554173
RGD:8554872
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex JBrowse link 4 145,559,206 145,574,438 RGD:8554872
G Fanca FA complementation group A JBrowse link 19 56,067,548 56,126,075 RGD:8554872
RGD:11554173
RGD:11344919
RGD:11344914
RGD:11344899
G Fancb FA complementation group B JBrowse link X 31,124,018 31,140,790 RGD:8554872
G Fancc FA complementation group C JBrowse link 17 826,512 955,703 RGD:8554872
RGD:11554173
RGD:11344914
RGD:11041907
G Fancd2 FA complementation group D2 JBrowse link 4 145,489,869 145,551,479 RGD:1601137
RGD:8554872
RGD:11554173
RGD:11344904
G Fancd2os FANCD2 opposite strand JBrowse link 4 145,549,248 145,556,054 RGD:8554872
G Fance FA complementation group E JBrowse link 20 7,888,927 7,906,142 RGD:8554872
G Fancf FA complementation group F JBrowse link 1 107,229,516 107,232,321 RGD:8554872
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:1599879
RGD:8554872
RGD:11554173
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:8554872
RGD:11344925
G Fancl FA complementation group L JBrowse link 14 110,675,306 110,740,880 RGD:8554872
RGD:11554173
G Fancm FA complementation group M JBrowse link 6 86,823,195 86,877,067 RGD:8554872
RGD:11554173
G Flt3lg fms-related tyrosine kinase 3 ligand JBrowse link 1 101,126,006 101,131,413 RGD:11049505
G Gstm1 glutathione S-transferase mu 1 JBrowse link 2 210,803,869 210,809,461 RGD:10450839
G Gstt1 glutathione S-transferase theta 1 JBrowse link 20 13,799,102 13,816,527 RGD:10450839
G Ifng interferon gamma JBrowse link 7 61,337,383 61,341,419 RGD:11049161
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11049161
G Mc1r melanocortin 1 receptor JBrowse link 19 56,215,420 56,219,987 RGD:8554872
G Mx2 MX dynamin like GTPase 2 JBrowse link 11 38,035,306 38,066,185 RGD:11554173
G Npepo aminopeptidase O JBrowse link 17 507,389 825,062 RGD:8554872
G Palb2 partner and localizer of BRCA2 JBrowse link 1 192,064,586 192,088,547 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Prf1 perforin 1 JBrowse link 20 30,915,294 30,920,804 RGD:6482802
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Rad51c RAD51 paralog C JBrowse link 10 74,697,713 74,724,004 RGD:11554173
RGD:8554872
G Slx4 SLX4 structure-specific endonuclease subunit JBrowse link 10 11,787,756 11,808,326 RGD:8554872
RGD:11554173
G Spire2 spire-type actin nucleation factor 2 JBrowse link 19 56,136,904 56,175,500 RGD:8554872
G Tcf25 transcription factor 25 JBrowse link 19 56,178,905 56,213,299 RGD:8554872
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10450524
RGD:11554173
RGD:11049161
G Usp1 ubiquitin specific peptidase 1 JBrowse link 5 117,583,502 117,594,872 RGD:13592920
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:8554872
G Vhl von Hippel-Lindau tumor suppressor JBrowse link 4 145,580,869 145,587,835 RGD:8554872
G Vrk2 VRK serine/threonine kinase 2 JBrowse link 14 110,739,835 110,883,836 RGD:8554872
G Zfp276 zinc finger protein (C2H2 type) 276 JBrowse link 19 56,054,250 56,067,767 RGD:8554872
Fanconi anemia complementation group A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:8554872
G Fanca FA complementation group A JBrowse link 19 56,067,548 56,126,075 RGD:8554872
RGD:7240710
G Zfp276 zinc finger protein (C2H2 type) 276 JBrowse link 19 56,054,250 56,067,767 RGD:8554872
Fanconi anemia complementation group B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancb FA complementation group B JBrowse link X 31,124,018 31,140,790 RGD:7240710
RGD:8554872
Fanconi anemia complementation group C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancc FA complementation group C JBrowse link 17 826,512 955,703 RGD:7240710
RGD:8554872
G Npepo aminopeptidase O JBrowse link 17 507,389 825,062 RGD:8554872
Fanconi anemia complementation group D1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:7240710
RGD:8554872
Fanconi anemia complementation group D2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancd2 FA complementation group D2 JBrowse link 4 145,489,869 145,551,479 RGD:7240710
RGD:8554872
G Fancd2os FANCD2 opposite strand JBrowse link 4 145,549,248 145,556,054 RGD:8554872
Fanconi anemia complementation group E term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fance FA complementation group E JBrowse link 20 7,888,927 7,906,142 RGD:7240710
RGD:8554872
Fanconi anemia complementation group F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancf FA complementation group F JBrowse link 1 107,229,516 107,232,321 RGD:7240710
RGD:8554872
Fanconi anemia complementation group G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancg FA complementation group G JBrowse link 5 58,448,060 58,456,416 RGD:7240710
RGD:8554872
Fanconi anemia complementation group I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fanci FA complementation group I JBrowse link 1 141,116,565 141,172,997 RGD:7240710
RGD:8554872
RGD:11344924
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
Fanconi anemia complementation group J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brip1 BRCA1 interacting protein C-terminal helicase 1 JBrowse link 10 73,507,009 73,632,742 RGD:7240710
RGD:8554872
RGD:11251781
Fanconi anemia complementation group L term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancl FA complementation group L JBrowse link 14 110,675,306 110,740,880 RGD:7240710
RGD:8554872
G Vrk2 VRK serine/threonine kinase 2 JBrowse link 14 110,739,835 110,883,836 RGD:8554872
Fanconi Anemia Complementation Group M term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fancm FA complementation group M JBrowse link 6 86,823,195 86,877,067 RGD:7240710
RGD:8554872
Fanconi anemia complementation group N term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Palb2 partner and localizer of BRCA2 JBrowse link 1 192,064,586 192,088,547 RGD:7240710
RGD:8554872
Fanconi anemia complementation group O term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad51c RAD51 paralog C JBrowse link 10 74,697,713 74,724,004 RGD:7240710
RGD:8554872
Fanconi anemia complementation group P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slx4 SLX4 structure-specific endonuclease subunit JBrowse link 10 11,787,756 11,808,326 RGD:7240710
RGD:8554872
Fanconi anemia complementation group Q term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit JBrowse link 10 2,010,140 2,037,953 RGD:7240710
RGD:8554872
Fanconi anemia complementation group R term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rad51 RAD51 recombinase JBrowse link 3 110,918,240 110,942,920 RGD:8554872
RGD:7240710
Fanconi anemia complementation group T term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ube2t ubiquitin-conjugating enzyme E2T JBrowse link 13 51,790,877 51,801,379 RGD:8554872
RGD:7240710
Fanconi anemia complementation group U term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xrcc2 X-ray repair cross complementing 2 JBrowse link 4 5,842,013 5,860,516 RGD:8554872
RGD:7240710
Fanconi anemia complementation group V term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mad2l2 mitotic arrest deficient 2 like 2 JBrowse link 5 164,943,183 164,956,255 RGD:8554872
RGD:7240710
Fanconi Anemia Complementation Group W term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rfwd3 ring finger and WD repeat domain 3 JBrowse link 19 42,960,597 42,971,894 RGD:8554872
RGD:7240710
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lars2 leucyl-tRNA synthetase 2, mitochondrial JBrowse link 8 132,441,277 132,537,176 RGD:8554872
RGD:7240710
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc11a2 solute carrier family 11 member 2 JBrowse link 7 142,025,812 142,062,892 RGD:7240710
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:8554872
G Tert telomerase reverse transcriptase JBrowse link 1 32,250,876 32,275,330 RGD:7240710
RGD:8554872
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Terc telomerase RNA component JBrowse link 2 116,432,723 116,433,110 RGD:7240710
RGD:8554872
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rtel1 regulator of telomere elongation helicase 1 JBrowse link 3 176,818,012 176,856,531 RGD:7240710
RGD:8554872
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Parn poly(A)-specific ribonuclease JBrowse link 10 1,309,724 1,461,123 RGD:8554872
RGD:7240710
pure red-cell aplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:11041717
G RT1-Bb RT1 class II, locus Bb JBrowse link 20 4,043,726 4,049,367 RGD:11041748
G RT1-Db1 RT1 class II, locus Db1 JBrowse link 20 4,087,621 4,097,190 RGD:11041748
sideroblastic anemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb7 ATP binding cassette subfamily B member 7 JBrowse link X 75,150,511 75,291,950 RGD:11038732
RGD:11554173
G Alad aminolevulinate dehydratase JBrowse link 5 78,368,867 78,379,206 RGD:12904678
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:1599037
RGD:11554173
G Calr calreticulin JBrowse link 19 25,956,771 25,961,666 RGD:11352763
G Gdf15 growth differentiation factor 15 JBrowse link 16 20,555,395 20,557,978 RGD:11554173
G Glrx5 glutaredoxin 5 JBrowse link 6 128,750,503 128,760,880 RGD:11554173
G Hspa9 heat shock protein family A (Hsp70) member 9 JBrowse link 18 27,731,072 27,749,235 RGD:11554173
G Mt-co1 mitochondrially encoded cytochrome c oxidase I JBrowse link MT 5,323 6,867 RGD:8554872
G Slc25a38 solute carrier family 25, member 38 JBrowse link 8 128,790,348 128,802,988 RGD:11554173
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:11554173
G Tfrc transferrin receptor JBrowse link 11 71,397,423 71,419,263 RGD:11062136
sideroblastic anemia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:7240710
RGD:8554872
RGD:11554173
RGD:11035244
RGD:11035243
RGD:11035241
G Slc25a38 solute carrier family 25, member 38 JBrowse link 8 128,790,348 128,802,988 RGD:8554872
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trnt1 tRNA nucleotidyl transferase 1 JBrowse link 4 138,855,497 138,869,217 RGD:8554872
RGD:7240710
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb7 ATP binding cassette subfamily B member 7 JBrowse link X 75,150,511 75,291,950 RGD:1598600
RGD:8554872
RGD:11554173
RGD:11038735
RGD:11038734
RGD:7240710
G Alas2 5'-aminolevulinate synthase 2 JBrowse link X 23,167,576 23,187,356 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      hematopoietic system disease 1366
        bone marrow disease 393
          aplastic anemia 147
            Aplastic Anemia, Idiopathic 0
            Bone Marrow Failure Syndromes + 10
            Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 0
            WT Limb Blood Syndrome 0
            congenital hypoplastic anemia + 103
            myelophthisic anemia 0
            pure red-cell aplasia + 61
            sideroblastic anemia + 14
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Hemic and Lymphatic Diseases 1581
        hematopoietic system disease 1366
          anemia 367
            aplastic anemia 147
              Aplastic Anemia, Idiopathic 0
              Bone Marrow Failure Syndromes + 10
              Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 0
              WT Limb Blood Syndrome 0
              congenital hypoplastic anemia + 103
              myelophthisic anemia 0
              pure red-cell aplasia + 61
              sideroblastic anemia + 14
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.