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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:Diamond-Blackfan anemia
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Accession:DOID:1339 term browser browse the term
Definition:A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. (DO)
Synonyms:exact_synonym: Aase syndrome;   BDS;   Blackfan Diamond disease;   Blackfan Diamond syndrome;   DBA;   Diamond-Blackfan type anemia;   chronic congenital agenerative anemia;   chronic congenital aregenerative anemia;   chronic constitutional pure red cell anaemia;   congenital erythroid hypoplastic anemia;   congenital hypoplastic anemia of Blackfan and Diamond;   congenital pure red cell anemia;   congenital pure red cell aplasia;   erythrogenesis imperfecta;   erythrogenesis imperfectas;   inherited erythroblastopenia;   pure hereditary red cell aplasia
 xref: EFO:0004130;   GARD:6274;   MESH:D029503;   MIM:PS105650;   MONDO:0015253;   NCI:C61236;   ORDO:124
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Diamond-Blackfan anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTMAP actin maturation protease IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,740,861...40,750,477
Ensembl chr19:40,740,856...40,751,553 		JBrowse link
G AKT2 AKT serine/threonine kinase 2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,230,317...40,285,345
Ensembl chr19:40,230,317...40,285,536 		JBrowse link
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,072,636...8,087,716
Ensembl chr17:8,072,636...8,087,716 		JBrowse link
G ALOX15B arachidonate 15-lipoxygenase type B IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,039,059...8,049,134
Ensembl chr17:8,039,034...8,049,134 		JBrowse link
G ALOXE3 arachidonate epidermal lipoxygenase 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047 		JBrowse link
G ARHGEF1 Rho guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,883,184...41,930,141
Ensembl chr19:41,883,173...41,930,150 		JBrowse link
G ARHGEF15 Rho guanine nucleotide exchange factor 15 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr17:8,310,241...8,322,511
Ensembl chr17:8,310,241...8,322,514 		JBrowse link
G ASAP3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,428,563...23,484,631
Ensembl chr 1:23,428,563...23,484,637 		JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497 		JBrowse link
G AURKB aurora kinase B IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,204,731...8,210,575
Ensembl chr17:8,204,733...8,210,600 		JBrowse link
G AXL AXL receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,219,223...41,261,766
Ensembl chr19:41,219,223...41,261,766 		JBrowse link
G B3GNT8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,425,359...41,428,730
Ensembl chr19:41,425,359...41,428,730 		JBrowse link
G B9D2 B9 domain containing 2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,397,818...41,425,002
Ensembl chr19:41,397,808...41,425,002 		JBrowse link
G BLVRB biliverdin reductase B IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,447,768...40,465,745
Ensembl chr19:40,447,765...40,465,764 		JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,188,345...8,190,180
Ensembl chr17:8,188,345...8,190,180 		JBrowse link
G BRDT bromodomain testis associated IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:91,949,371...92,014,428
Ensembl chr 1:91,949,343...92,014,426 		JBrowse link
G BTBD8 BTB domain containing 8 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:92,080,345...92,184,723
Ensembl chr 1:92,080,305...92,184,725 		JBrowse link
G C19orf47 chromosome 19 open reading frame 47 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,292,954...40,348,527
Ensembl chr19:40,319,536...40,348,527 		JBrowse link
G C1orf146 chromosome 1 open reading frame 146 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:92,217,915...92,245,813
Ensembl chr 1:92,217,915...92,245,813 		JBrowse link
G CCDC97 coiled-coil domain containing 97 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,310,172...41,324,873
Ensembl chr19:41,310,172...41,324,873 		JBrowse link
G CCNP cyclin P IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,222,208...40,226,689
Ensembl chr19:40,222,208...40,226,697 		JBrowse link
G CD79A CD79a molecule IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372 		JBrowse link
G CDC7 cell division cycle 7 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:91,500,851...91,525,764
Ensembl chr 1:91,500,851...91,525,764 		JBrowse link
G CEACAM21 CEA cell adhesion molecule 21 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,549,518...41,586,844
Ensembl chr19:41,549,518...41,586,844 		JBrowse link
G CEACAM3 CEA cell adhesion molecule 3 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,796,587...41,811,554
Ensembl chr19:41,796,587...41,811,554 		JBrowse link
G CEACAM4 CEA cell adhesion molecule 4 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,613,436...41,627,074
Ensembl chr19:41,619,015...41,627,074 		JBrowse link
G CEACAM5 CEA cell adhesion molecule 5 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,708,626...41,730,433
Ensembl chr19:41,708,585...41,730,433 		JBrowse link
G CEACAM6 CEA cell adhesion molecule 6 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,755,530...41,772,211
Ensembl chr19:41,750,977...41,772,211 		JBrowse link
G CEACAM7 CEA cell adhesion molecule 7 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,673,303...41,688,270
Ensembl chr19:41,673,303...41,706,976 		JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760 		JBrowse link
G CIC capicua transcriptional repressor IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,268,530...42,295,796
Ensembl chr19:42,268,537...42,295,797 		JBrowse link
G CLC Charcot-Leyden crystal galectin IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,731,255...39,738,029
Ensembl chr19:39,731,255...39,738,029 		JBrowse link
G CNFN cornifelin IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,387,019...42,390,297
Ensembl chr19:42,387,019...42,390,297 		JBrowse link
G CNR2 cannabinoid receptor 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,870,515...23,913,362
Ensembl chr 1:23,870,515...23,913,362 		JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,932,081...7,949,920
Ensembl chr17:7,932,101...7,949,920 		JBrowse link
G COQ8B coenzyme Q8B IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,691,530...40,716,886
Ensembl chr19:40,691,514...40,725,784 		JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058 		JBrowse link
G CYB5D1 cytochrome b5 domain containing 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,858,003...7,862,282
Ensembl chr17:7,857,746...7,862,282 		JBrowse link
G CYP2A13 cytochrome P450 family 2 subfamily A member 13 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,088,451...41,096,195
Ensembl chr19:41,088,451...41,096,195 		JBrowse link
G CYP2A6 cytochrome P450 family 2 subfamily A member 6 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,843,541...40,850,447
Ensembl chr19:40,843,541...40,850,447 		JBrowse link
G CYP2A7 cytochrome P450 family 2 subfamily A member 7 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,875,439...40,882,231
Ensembl chr19:40,875,439...40,882,752 		JBrowse link
G CYP2B6 cytochrome P450 family 2 subfamily B member 6 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,991,282...41,018,398
Ensembl chr19:40,991,282...41,018,398 		JBrowse link
G CYP2F1 cytochrome P450 family 2 subfamily F member 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,114,432...41,128,381
Ensembl chr19:41,114,432...41,128,381 		JBrowse link
G CYP2S1 cytochrome P450 family 2 subfamily S member 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,193,219...41,207,539
Ensembl chr19:41,193,210...41,207,539 		JBrowse link
G DEDD2 death effector domain containing 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr19:42,198,598...42,220,134
Ensembl chr19:42,198,598...42,220,140 		JBrowse link
G DIPK1A divergent protein kinase domain 1A IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Red cell aplasia, pure hereditary		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 More... NCBI chr 1:92,832,729...92,961,462
Ensembl chr 1:92,832,737...92,961,522 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G DMAC2 distal membrane arm assembly component 2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,431,318...41,439,912
Ensembl chr19:41,431,318...41,440,717 		JBrowse link
G DMRTC2 DMRT like family C2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,844,916...41,852,333
Ensembl chr19:41,844,743...41,852,333 		JBrowse link
G DNAH2 dynein axonemal heavy chain 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,717,744...7,833,742
Ensembl chr17:7,717,744...7,833,742 		JBrowse link
G DYRK1B dual specificity tyrosine phosphorylation regulated kinase 1B IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,825,350...39,834,162
Ensembl chr19:39,825,350...39,834,201 		JBrowse link
G E2F2 E2F transcription factor 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,505,212...23,531,233
Ensembl chr 1:23,506,438...23,531,233 		JBrowse link
G EFNB3 ephrin B3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,705,202...7,711,372
Ensembl chr17:7,705,202...7,711,372 		JBrowse link
G EGLN2 egl-9 family hypoxia inducible factor 2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,799,191...40,808,434
Ensembl chr19:40,798,996...40,808,434 		JBrowse link
G EID2 EP300 interacting inhibitor of differentiation 2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,538,707...39,540,161
Ensembl chr19:39,538,707...39,540,161 		JBrowse link
G EID2B EP300 interacting inhibitor of differentiation 2B IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,530,987...39,532,852
Ensembl chr19:39,530,987...39,532,852 		JBrowse link
G ELOA elongin A IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,743,471...23,762,059
Ensembl chr 1:23,743,448...23,762,059 		JBrowse link
G EPHX4 epoxide hydrolase 4 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:92,029,985...92,063,538
Ensembl chr 1:92,029,985...92,063,538 		JBrowse link
G ERF ETS2 repressor factor IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128 		JBrowse link
G ERICH4 glutamate rich 4 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,443,156...41,444,765
Ensembl chr19:41,443,156...41,444,765 		JBrowse link
G EVI5 ecotropic viral integration site 5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:92,508,696...92,792,410
Ensembl chr 1:92,508,696...92,792,404 		JBrowse link
G EXOSC5 exosome component 5 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,386,374...41,397,359
Ensembl chr19:41,386,371...41,397,362 		JBrowse link
G FBL fibrillarin IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,834,458...39,846,379
Ensembl chr19:39,834,458...39,846,379 		JBrowse link
G FCGBP Fc gamma binding protein IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,863,323...39,934,634
Ensembl chr19:39,863,323...39,934,626 		JBrowse link
G FLVCR1 FLVCR choline and heme transporter 1 ISS OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 MouseDO NCBI chr 1:212,858,275...212,899,363
Ensembl chr 1:212,858,275...212,899,363 		JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290 		JBrowse link
G GALE UDP-galactose-4-epimerase IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,795,599...23,800,754
Ensembl chr 1:23,795,599...23,800,781 		JBrowse link
G GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: Aase syndrome
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia		 ClinVar PMID:871527 PMID:3164080 PMID:8628290 PMID:9536098 PMID:11566888 More... NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925 		JBrowse link
G GH1 growth hormone 1 treatment IDA RGD PMID:25492299 RGD:11352737 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GLMN glomulin, FKBP associated protein IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:92,246,402...92,370,844
Ensembl chr 1:92,246,402...92,298,987 		JBrowse link
G GLOD5 glyoxalase domain containing 5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:48,761,747...48,773,648
Ensembl chr  X:48,761,747...48,773,648 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482 		JBrowse link
G GRIK5 glutamate ionotropic receptor kainate type subunit 5 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,998,324...42,070,206
Ensembl chr19:41,998,321...42,070,206 		JBrowse link
G GSK3A glycogen synthase kinase 3 alpha IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,230,190...42,242,602
Ensembl chr19:42,226,225...42,242,625 		JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:35213692 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G HFM1 helicase for meiosis 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:91,260,766...91,408,007
Ensembl chr 1:91,260,766...91,404,856 		JBrowse link
G HIPK4 homeodomain interacting protein kinase 4 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,379,271...40,390,181
Ensembl chr19:40,379,271...40,390,181 		JBrowse link
G HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,801,885...23,825,429
Ensembl chr 1:23,801,885...23,838,620 		JBrowse link
G HNRNPR heterogeneous nuclear ribonucleoprotein R IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,304,688...23,344,284
Ensembl chr 1:23,303,771...23,344,336 		JBrowse link
G HNRNPUL1 heterogeneous nuclear ribonucleoprotein U like 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,262,557...41,307,787
Ensembl chr19:41,262,496...41,307,787 		JBrowse link
G HTR1D 5-hydroxytryptamine receptor 1D IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,191,895...23,217,502
Ensembl chr 1:23,191,895...23,217,502 		JBrowse link
G ID3 inhibitor of DNA binding 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,557,926...23,559,501
Ensembl chr 1:23,557,926...23,559,501 		JBrowse link
G IFNLR1 interferon lambda receptor 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:24,154,168...24,187,289
Ensembl chr 1:24,154,168...24,187,959 		JBrowse link
G IL22RA1 interleukin 22 receptor subunit alpha 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:24,119,771...24,143,140
Ensembl chr 1:24,119,771...24,143,140 		JBrowse link
G IQCG IQ motif containing G IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia		 ClinVar PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 More... NCBI chr 3:197,889,077...197,960,177
Ensembl chr 3:197,889,077...197,960,142 		JBrowse link
G ITPKC inositol-trisphosphate 3-kinase C IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,717,112...40,740,860
Ensembl chr19:40,717,112...40,740,860 		JBrowse link
G KCNAB3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,921,859...7,929,856
Ensembl chr17:7,921,859...7,929,856 		JBrowse link
G KDM1A lysine demethylase 1A IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689 		JBrowse link
G KDM6B lysine demethylase 6B IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,834,217...7,854,796
Ensembl chr17:7,834,217...7,854,796 		JBrowse link
G KLF1 KLF transcription factor 1 IEP mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G KRBA2 KRAB-A domain containing 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr17:8,358,822...8,376,704
Ensembl chr17:8,356,902...8,376,704 		JBrowse link
G LEUTX leucine twenty homeobox IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,776,453...39,786,291
Ensembl chr19:39,776,595...39,786,291 		JBrowse link
G LGALS13 galectin 13 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,602,524...39,607,474
Ensembl chr19:39,602,524...39,607,474 		JBrowse link
G LGALS14 galectin 14 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,704,481...39,709,444
Ensembl chr19:39,704,481...39,709,444 		JBrowse link
G LGALS16 galectin 16 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,655,913...39,660,647
Ensembl chr19:39,655,913...39,660,647 		JBrowse link
G LINC00324 long intergenic non-protein coding RNA 324 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,220,630...8,224,043
Ensembl chr17:8,220,616...8,224,079 		JBrowse link
G LIPE lipase E, hormone sensitive type IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,401,514...42,427,388
Ensembl chr19:42,401,497...42,427,388 		JBrowse link
G LOC100128288 uncharacterized LOC100128288 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,358,413...8,360,541 JBrowse link
G LOC105371520 uncharacterized LOC105371520 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,174,110...8,182,812 JBrowse link
G LOC106794092 nonconserved acetylation island sequence 72 enhancer IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,199,936...8,200,425 JBrowse link
G LOC112533665 H3K27ac hESC enhancer GRCh37_chr17:7760574-7761436 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,857,256...7,858,118 JBrowse link
G LOC116276454 CRISPRi-validated cis-regulatory element chr17.641 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,304,515...8,304,903 JBrowse link
G LOC119407405 CRISPRi-FlowFISH-validated PLP2 regulatory element 6 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr  X:48,793,298...48,793,798 JBrowse link
G LOC121587574 H3K4me1 hESC enhancers GRCh37_chr17:7754177-7755141 and GRCh37_chr17:7755142-7756105 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,850,859...7,852,787 JBrowse link
G LOC121587575 Sharpr-MPRA regulatory region 8148 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,152,351...8,152,645 JBrowse link
G LOC124904106 translation initiation factor IF-2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,835,408...7,845,528 JBrowse link
G LOC126862483 BRD4-independent group 4 enhancer GRCh37_chr17:7589699-7590898 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,686,360...7,687,580 JBrowse link
G LOC126862484 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:7797066-7798265 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,893,748...7,894,947 JBrowse link
G LOC126862485 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:8020998-8022197 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,117,680...8,118,879 JBrowse link
G LOC129390832 MPRA-validated peak2715 silencer IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,967,838...7,968,038 JBrowse link
G LOC129929673 ATAC-STARR-seq lymphoblastoid active region 374 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:23,691,768...23,692,087 JBrowse link
G LOC130004143 ATAC-STARR-seq lymphoblastoid active region 3612 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22855961 PMID:27029625 NCBI chr10:78,029,435...78,029,684 JBrowse link
G LOC130004144 ATAC-STARR-seq lymphoblastoid active region 3613 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19689926 PMID:25741868 PMID:26136524 PMID:28492532 NCBI chr10:78,033,663...78,034,192 JBrowse link
G LOC130060171 ATAC-STARR-seq lymphoblastoid silent region 8136 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,685,851...7,685,910 JBrowse link
G LOC130060172 ATAC-STARR-seq lymphoblastoid active region 11641 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,686,211...7,686,340 JBrowse link
G LOC130060173 ATAC-STARR-seq lymphoblastoid active region 11643 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,688,379...7,688,428 JBrowse link
G LOC130060174 ATAC-STARR-seq lymphoblastoid silent region 8137 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,822,810...7,822,859 JBrowse link
G LOC130060175 ATAC-STARR-seq lymphoblastoid silent region 8138 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,822,870...7,822,919 JBrowse link
G LOC130060176 ATAC-STARR-seq lymphoblastoid silent region 8139 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,834,189...7,834,348 JBrowse link
G LOC130060177 ATAC-STARR-seq lymphoblastoid silent region 8140 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,835,599...7,836,018 JBrowse link
G LOC130060178 ATAC-STARR-seq lymphoblastoid silent region 8141 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,836,039...7,836,098 JBrowse link
G LOC130060179 ATAC-STARR-seq lymphoblastoid active region 11645 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,836,719...7,836,768 JBrowse link
G LOC130060180 ATAC-STARR-seq lymphoblastoid silent region 8142 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,837,639...7,837,788 JBrowse link
G LOC130060181 ATAC-STARR-seq lymphoblastoid silent region 8143 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,841,693...7,841,852 JBrowse link
G LOC130060182 ATAC-STARR-seq lymphoblastoid active region 11646 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,842,383...7,842,692 JBrowse link
G LOC130060183 ATAC-STARR-seq lymphoblastoid silent region 8144 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,844,003...7,844,192 JBrowse link
G LOC130060184 ATAC-STARR-seq lymphoblastoid silent region 8145 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,844,733...7,844,952 JBrowse link
G LOC130060185 ATAC-STARR-seq lymphoblastoid active region 11647 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,845,103...7,845,222 JBrowse link
G LOC130060186 ATAC-STARR-seq lymphoblastoid active region 11650 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,856,644...7,856,723 JBrowse link
G LOC130060187 ATAC-STARR-seq lymphoblastoid silent region 8146 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,885,522...7,885,601 JBrowse link
G LOC130060188 ATAC-STARR-seq lymphoblastoid active region 11653 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,885,852...7,885,901 JBrowse link
G LOC130060189 ATAC-STARR-seq lymphoblastoid silent region 8147 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,887,652...7,887,811 JBrowse link
G LOC130060190 ATAC-STARR-seq lymphoblastoid silent region 8148 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,915,919...7,916,228 JBrowse link
G LOC130060191 ATAC-STARR-seq lymphoblastoid active region 11654 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,931,660...7,931,899 JBrowse link
G LOC130060192 ATAC-STARR-seq lymphoblastoid active region 11655 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,932,240...7,932,289 JBrowse link
G LOC130060193 ATAC-STARR-seq lymphoblastoid active region 11656 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,932,510...7,932,569 JBrowse link
G LOC130060194 ATAC-STARR-seq lymphoblastoid active region 11657 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,932,600...7,932,889 JBrowse link
G LOC130060195 ATAC-STARR-seq lymphoblastoid silent region 8149 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,079,622...8,079,801 JBrowse link
G LOC130060196 ATAC-STARR-seq lymphoblastoid active region 11660 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,079,862...8,079,971 JBrowse link
G LOC130060197 ATAC-STARR-seq lymphoblastoid silent region 8150 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,093,919...8,093,998 JBrowse link
G LOC130060198 ATAC-STARR-seq lymphoblastoid silent region 8151 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,110,165...8,110,494 JBrowse link
G LOC130060199 ATAC-STARR-seq lymphoblastoid active region 11663 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,118,981...8,119,080 JBrowse link
G LOC130060200 ATAC-STARR-seq lymphoblastoid silent region 8152 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,119,601...8,119,650 JBrowse link
G LOC130060201 ATAC-STARR-seq lymphoblastoid silent region 8153 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,119,781...8,119,870 JBrowse link
G LOC130060202 ATAC-STARR-seq lymphoblastoid silent region 8154 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,120,241...8,120,450 JBrowse link
G LOC130060203 ATAC-STARR-seq lymphoblastoid silent region 8155 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,121,391...8,121,850 JBrowse link
G LOC130060204 ATAC-STARR-seq lymphoblastoid silent region 8156 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,122,071...8,122,180 JBrowse link
G LOC130060205 ATAC-STARR-seq lymphoblastoid silent region 8157 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,125,625...8,125,674 JBrowse link
G LOC130060206 ATAC-STARR-seq lymphoblastoid silent region 8159 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,126,515...8,126,704 JBrowse link
G LOC130060207 ATAC-STARR-seq lymphoblastoid active region 11665 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,126,955...8,127,034 JBrowse link
G LOC130060208 ATAC-STARR-seq lymphoblastoid silent region 8160 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,138,832...8,138,891 JBrowse link
G LOC130060209 ATAC-STARR-seq lymphoblastoid silent region 8161 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,138,912...8,139,081 JBrowse link
G LOC130060210 ATAC-STARR-seq lymphoblastoid silent region 8162 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,139,442...8,139,491 JBrowse link
G LOC130060211 ATAC-STARR-seq lymphoblastoid active region 11666 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,151,028...8,151,137 JBrowse link
G LOC130060212 ATAC-STARR-seq lymphoblastoid silent region 8163 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,151,298...8,151,397 JBrowse link
G LOC130060213 ATAC-STARR-seq lymphoblastoid silent region 8164 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,156,276...8,156,535 JBrowse link
G LOC130060214 ATAC-STARR-seq lymphoblastoid active region 11668 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,157,036...8,157,095 JBrowse link
G LOC130060215 ATAC-STARR-seq lymphoblastoid active region 11669 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,158,646...8,158,885 JBrowse link
G LOC130060216 ATAC-STARR-seq lymphoblastoid silent region 8165 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,159,006...8,159,055 JBrowse link
G LOC130060217 ATAC-STARR-seq lymphoblastoid active region 11670 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,162,116...8,162,165 JBrowse link
G LOC130060218 ATAC-STARR-seq lymphoblastoid silent region 8166 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,162,276...8,162,385 JBrowse link
G LOC130060219 ATAC-STARR-seq lymphoblastoid silent region 8167 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,162,676...8,162,865 JBrowse link
G LOC130060220 ATAC-STARR-seq lymphoblastoid silent region 8168 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,163,026...8,163,125 JBrowse link
G LOC130060221 ATAC-STARR-seq lymphoblastoid silent region 8169 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,163,256...8,163,315 JBrowse link
G LOC130060222 ATAC-STARR-seq lymphoblastoid active region 11671 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,173,035...8,173,124 JBrowse link
G LOC130060223 ATAC-STARR-seq lymphoblastoid active region 11672 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,173,605...8,173,784 JBrowse link
G LOC130060224 ATAC-STARR-seq lymphoblastoid active region 11673 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,175,768...8,175,817 JBrowse link
G LOC130060225 ATAC-STARR-seq lymphoblastoid active region 11674 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,175,868...8,175,927 JBrowse link
G LOC130060226 ATAC-STARR-seq lymphoblastoid silent region 8170 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,186,339...8,186,388 JBrowse link
G LOC130060227 ATAC-STARR-seq lymphoblastoid active region 11679 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,186,619...8,186,728 JBrowse link
G LOC130060228 ATAC-STARR-seq lymphoblastoid silent region 8171 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,186,889...8,186,938 JBrowse link
G LOC130060229 ATAC-STARR-seq lymphoblastoid silent region 8172 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,187,189...8,187,298 JBrowse link
G LOC130060230 ATAC-STARR-seq lymphoblastoid active region 11680 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,188,159...8,188,208 JBrowse link
G LOC130060231 ATAC-STARR-seq lymphoblastoid active region 11682 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,192,457...8,192,556 JBrowse link
G LOC130060232 ATAC-STARR-seq lymphoblastoid active region 11683 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,196,027...8,196,336 JBrowse link
G LOC130060233 ATAC-STARR-seq lymphoblastoid active region 11686 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,221,877...8,222,016 JBrowse link
G LOC130060234 ATAC-STARR-seq lymphoblastoid silent region 8176 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,222,277...8,222,346 JBrowse link
G LOC130060235 ATAC-STARR-seq lymphoblastoid active region 11687 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,222,397...8,222,596 JBrowse link
G LOC130060236 ATAC-STARR-seq lymphoblastoid silent region 8177 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,222,807...8,222,856 JBrowse link
G LOC130060237 ATAC-STARR-seq lymphoblastoid active region 11690 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,247,853...8,247,992 JBrowse link
G LOC130060238 ATAC-STARR-seq lymphoblastoid silent region 8178 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,248,083...8,248,132 JBrowse link
G LOC130060239 ATAC-STARR-seq lymphoblastoid active region 11691 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,248,473...8,248,592 JBrowse link
G LOC130060240 ATAC-STARR-seq lymphoblastoid active region 11692 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,288,333...8,288,562 JBrowse link
G LOC130060241 ATAC-STARR-seq lymphoblastoid active region 11693 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,288,923...8,289,042 JBrowse link
G LOC130060242 ATAC-STARR-seq lymphoblastoid silent region 8179 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,289,123...8,289,172 JBrowse link
G LOC130060243 ATAC-STARR-seq lymphoblastoid active region 11694 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,289,323...8,289,392 JBrowse link
G LOC130060244 ATAC-STARR-seq lymphoblastoid active region 11695 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,295,120...8,295,199 JBrowse link
G LOC130060245 ATAC-STARR-seq lymphoblastoid active region 11696 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,295,220...8,295,269 JBrowse link
G LOC130060246 ATAC-STARR-seq lymphoblastoid active region 11697 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,295,890...8,296,019 JBrowse link
G LTBP4 latent transforming growth factor beta binding protein 4 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818 		JBrowse link
G LUZP1 leucine zipper protein 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,178,152 		JBrowse link
G LYPD4 LY6/PLAUR domain containing 4 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,835,075...41,844,871
Ensembl chr19:41,837,074...41,844,697 		JBrowse link
G LYPLA2 lysophospholipase 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,791,145...23,795,539
Ensembl chr 1:23,791,110...23,795,539 		JBrowse link
G MAP3K10 mitogen-activated protein kinase kinase kinase 10 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,191,426...40,215,575
Ensembl chr19:40,191,426...40,215,575 		JBrowse link
G MDS2 myelodysplastic syndrome 2 translocation associated IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,627,334...23,640,568
Ensembl chr 1:23,581,495...23,640,574 		JBrowse link
G MEGF8 multiple EGF like domains 8 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769 		JBrowse link
G MIA MIA SH3 domain containing IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,775,160...40,777,490
Ensembl chr19:40,771,648...40,777,490 		JBrowse link
G MIR4314 microRNA 4314 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,088,056...8,088,147
Ensembl chr17:8,088,056...8,088,147 		JBrowse link
G MIR4521 microRNA 4521 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,186,945...8,187,004
Ensembl chr17:8,186,945...8,187,004 		JBrowse link
G MIR6797 microRNA 6797 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20960466 PMID:24675553 More... NCBI chr19:41,869,627...41,869,698
Ensembl chr19:41,869,627...41,869,698 		JBrowse link
G MIR6883 microRNA 6883 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,144,994...8,145,071
Ensembl chr17:8,144,994...8,145,071 		JBrowse link
G MYOM3 myomesin 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:24,056,041...24,112,135
Ensembl chr 1:24,056,035...24,112,135 		JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,856,685...7,885,420
Ensembl chr17:7,856,685...7,885,238 		JBrowse link
G NUMBL NUMB like endocytic adaptor protein IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,665,905...40,690,651
Ensembl chr19:40,665,905...40,690,972 		JBrowse link
G ODF4 outer dense fiber of sperm tails 4 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr17:8,339,840...8,346,046
Ensembl chr17:8,339,840...8,346,048 		JBrowse link
G PAFAH1B3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,297,033...42,302,800
Ensembl chr19:42,297,033...42,303,546 		JBrowse link
G PER1 period circadian regulator 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,140,472...8,152,404
Ensembl chr17:8,140,467...8,156,506 		JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr17:8,247,608...8,270,486
Ensembl chr17:8,247,618...8,270,491 		JBrowse link
G PITHD1 PITH domain containing 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,778,418...23,788,232
Ensembl chr 1:23,778,418...23,788,232 		JBrowse link
G PLD3 phospholipase D family member 3 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,348,695...40,378,485
Ensembl chr19:40,348,456...40,389,472 		JBrowse link
G PLEKHG2 pleckstrin homology and RhoGEF domain containing G2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,412,669...39,428,415
Ensembl chr19:39,412,669...39,428,415 		JBrowse link
G PNRC2 proline rich nuclear receptor coactivator 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,959,164...23,963,462
Ensembl chr 1:23,956,839...23,963,462 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G POU2F2 POU class 2 homeobox 2 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,086,110...42,197,936
Ensembl chr19:42,086,110...42,196,585 		JBrowse link
G PRR19 proline rich 19 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,302,132...42,310,814
Ensembl chr19:42,302,098...42,310,814 		JBrowse link
G PRX periaxin IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,393,764...40,414,789
Ensembl chr19:40,393,766...40,414,793 		JBrowse link
G PSMC4 proteasome 26S subunit, ATPase 4 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,971,165...39,981,764
Ensembl chr19:39,971,165...39,981,764 		JBrowse link
G RAB4B RAB4B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,778,247...40,796,942
Ensembl chr19:40,778,216...40,796,942 		JBrowse link
G RABAC1 Rab acceptor 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,956,683...41,959,321
Ensembl chr19:41,956,681...41,959,321 		JBrowse link
G RANGRF RAN guanine nucleotide release factor IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr17:8,288,670...8,290,087
Ensembl chr17:8,288,654...8,290,092 		JBrowse link
G RNF227 ring finger protein 227 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,913,324...7,916,318
Ensembl chr17:7,913,339...7,916,289 		JBrowse link
G RPAP2 RNA polymerase II associated protein 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:92,299,059...92,402,056
Ensembl chr 1:92,299,059...92,402,056 		JBrowse link
G RPL11 ribosomal protein L11 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More... NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G RPL17 ribosomal protein L17 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:39088281 NCBI chr18:49,488,481...49,492,465
Ensembl chr18:49,488,453...49,492,508 		JBrowse link
G RPL17-C18orf32 RPL17-C18orf32 readthrough IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:39088281 NCBI chr18:49,481,178...49,492,465
Ensembl chr18:49,481,681...49,492,479 		JBrowse link
G RPL19 ribosomal protein L19 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia		 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:39,200,283...39,204,732
Ensembl chr17:39,200,283...39,204,840 		JBrowse link
G RPL26 ribosomal protein L26 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia		 ClinVar PMID:9536098 PMID:17576681 PMID:20522432 PMID:21056402 PMID:22267198 More... NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RPL35A ribosomal protein L35a IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia		 ClinVar PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 More... 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 ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 More... NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPS10 ribosomal protein S10 IAGP ClinVar Annotator: match by term: Aase syndrome
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:20159986 More... NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS10-NUDT3 RPS10-NUDT3 readthrough IAGP ClinVar Annotator: match by term: Aase syndrome
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:23718193 More... NCBI chr 6:34,287,194...34,426,069
Ensembl chr 6:34,284,887...34,426,071 		JBrowse link
G RPS16 ribosomal protein S16 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,433,137...39,435,949
Ensembl chr19:39,433,137...39,435,949 		JBrowse link
G RPS17 ribosomal protein S17 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia		 CTD
ClinVar		 PMID:17647292 PMID:19953637 PMID:25741868 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459 		JBrowse link
G RPS19 ribosomal protein S19 IAGP
EXP		 ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Red cell aplasia, pure hereditary
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 More... RGD:1599572, RGD:1599571 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS20 ribosomal protein S20 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:32790018 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 ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary		 ClinVar PMID:9536098 PMID:17186470 PMID:17576681 PMID:19689926 PMID:20960466 More... NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
G RPS26 ribosomal protein S26 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19816270 PMID:20116044 PMID:22381658 PMID:23718193 PMID:24675553 More... NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS7 ribosomal protein S7 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia		 ClinVar PMID:25741868 PMID:26136524 PMID:28492532 NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920 		JBrowse link
G RPSA ribosomal protein SA ISS OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 MouseDO NCBI chr 3:39,406,720...39,412,542
Ensembl chr 3:39,406,716...39,426,255 		JBrowse link
G SCARNA21 small Cajal body-specific RNA 21 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,906,123...7,906,260
Ensembl chr17:7,906,122...7,906,260 		JBrowse link
G SELENOV selenoprotein V IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,515,113...39,520,686
Ensembl chr19:39,515,139...39,520,675 		JBrowse link
G SERTAD1 SERTA domain containing 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,421,589...40,425,992
Ensembl chr19:40,421,589...40,425,992 		JBrowse link
G SERTAD3 SERTA domain containing 3 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,440,844...40,444,335
Ensembl chr19:40,440,844...40,444,335 		JBrowse link
G SHKBP1 SH3KBP1 binding protein 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,576,873...40,591,397
Ensembl chr19:40,576,853...40,591,399 		JBrowse link
G SLC25A35 solute carrier family 25 member 35 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr17:8,287,763...8,295,400
Ensembl chr17:8,287,763...8,295,400 		JBrowse link
G SNORA66 small nucleolar RNA, H/ACA box 66 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr 1:92,840,719...92,840,851
Ensembl chr 1:92,840,719...92,840,851 		JBrowse link
G SNORD118 small nucleolar RNA, C/D box 118 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,173,452...8,173,588
Ensembl chr17:8,173,454...8,173,587 		JBrowse link
G SNORD21 small nucleolar RNA, C/D box 21 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:92,837,289...92,837,383
Ensembl chr 1:92,837,289...92,837,383 		JBrowse link
G SNRPA small nuclear ribonucleoprotein polypeptide A IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,751,203...40,765,389
Ensembl chr19:40,750,637...40,765,389 		JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		JBrowse link
G SRSF10 serine and arginine rich splicing factor 10 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,964,347...23,980,327
Ensembl chr 1:23,964,347...23,980,927 		JBrowse link
G SUPT5H SPT5 homolog, DSIF elongation factor subunit IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,445,582...39,476,670
Ensembl chr19:39,436,156...39,476,670 		JBrowse link
G SUV39H1 SUV39H1 histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:48,695,554...48,709,016
Ensembl chr  X:48,695,554...48,709,016 		JBrowse link
G TCEA3 transcription elongation factor A3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,380,909...23,424,748
Ensembl chr 1:23,380,909...23,424,748 		JBrowse link
G TGFB1 transforming growth factor beta 1 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922 		JBrowse link
G TGFBR3 transforming growth factor beta receptor 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 1:91,680,343...91,906,002
Ensembl chr 1:91,680,343...91,906,335 		JBrowse link
G TIMM50 translocase of inner mitochondrial membrane 50 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM145 transmembrane protein 145 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,313,309...42,325,064
Ensembl chr19:42,313,309...42,325,064 		JBrowse link
G TMEM88 transmembrane protein 88 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,855,066...7,856,099
Ensembl chr17:7,855,066...7,856,099 		JBrowse link
G TMEM91 transmembrane protein 91 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:41,363,947...41,384,083
Ensembl chr19:41,350,911...41,384,083 		JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,546 		JBrowse link
G TRAPPC1 trafficking protein particle complex subunit 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,930,345...7,931,999
Ensembl chr17:7,930,345...7,932,123 		JBrowse link
G TRD-GTC2-11 tRNA-Asp (anticodon GTC) 2-11 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,222,238...8,222,309 JBrowse link
G TRG-GCC2-6 tRNA-Gly (anticodon GCC) 2-6 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,125,746...8,125,816 JBrowse link
G TRG-TCC3-1 tRNA-Gly (anticodon TCC) 3-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,221,548...8,221,619 JBrowse link
G TRI-AAT4-1 tRNA-Ile (anticodon AAT) 4-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,226,991...8,227,064 JBrowse link
G TRI-AAT5-5 tRNA-Ile (anticodon AAT) 5-5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,187,593...8,187,666 JBrowse link
G TRK-TTT3-5 tRNA-Lys (anticodon TTT) 3-5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,119,155...8,119,227 JBrowse link
G TRL-TAG1-1 tRNA-Leu (anticodon TAG) 1-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,120,314...8,120,395 JBrowse link
G TRP-CGG1-3 tRNA-Pro (anticodon CGG) 1-3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,222,833...8,222,904 JBrowse link
G TRQ-CTG1-5 tRNA-Gln (anticodon CTG) 1-5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,119,752...8,119,823 JBrowse link
G TRR-TCT2-1 tRNA-Arg (anticodon TCT) 2-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,120,925...8,121,012 JBrowse link
G TRS-AGA2-6 tRNA-Ser (anticodon AGA) 2-6 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,226,610...8,226,691 JBrowse link
G TRS-CGA1-1 tRNA-Ser (anticodon CGA) 1-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,138,881...8,138,962 JBrowse link
G TRS-GCT4-3 tRNA-Ser (anticodon GCT) 4-3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,186,866...8,186,947 JBrowse link
G TRT-AGT1-1 tRNA-Thr (anticodon AGT) 1-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,187,160...8,187,233 JBrowse link
G TRT-AGT1-2 tRNA-Thr (anticodon AGT) 1-2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,226,235...8,226,308 JBrowse link
G TRT-AGT5-1 tRNA-Thr (anticodon AGT) 5-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,139,452...8,139,525 JBrowse link
G TRW-CCA1-1 tRNA-Trp (anticodon CCA) 1-1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,220,869...8,220,940 JBrowse link
G TRW-CCA3-3 tRNA-Trp (anticodon CCA) 3-3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,186,358...8,186,429 JBrowse link
G TTC9B tetratricopeptide repeat domain 9B IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,216,058...40,218,384
Ensembl chr19:40,216,058...40,218,384 		JBrowse link
G VAMP2 vesicle associated membrane protein 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:8,159,147...8,162,948
Ensembl chr17:8,159,149...8,163,546 		JBrowse link
G WAS WASP actin nucleation promoting factor IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:48,676,636...48,691,427
Ensembl chr  X:48,676,596...48,691,431 		JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502 		JBrowse link
G ZNF436 zinc finger protein 436 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,359,448...23,369,836
Ensembl chr 1:23,359,448...23,369,836 		JBrowse link
G ZNF526 zinc finger protein 526 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,220,312...42,228,201
Ensembl chr19:42,220,292...42,228,201 		JBrowse link
G ZNF546 zinc finger protein 546 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:39,997,060...40,021,038
Ensembl chr19:39,984,134...40,021,038 		JBrowse link
G ZNF574 zinc finger protein 574 IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:42,068,477...42,081,552
Ensembl chr19:42,068,477...42,081,552 		JBrowse link
G ZNF699 zinc finger protein 699 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838 		JBrowse link
G ZNF780A zinc finger protein 780A IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,069,152...40,090,943
Ensembl chr19:40,069,152...40,090,943 		JBrowse link
G ZNF780B zinc finger protein 780B IAGP ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr19:40,028,260...40,056,231
Ensembl chr19:40,028,260...40,056,231 		JBrowse link
Diamond-Blackfan anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIPK1A divergent protein kinase domain 1A IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr 1:92,832,729...92,961,462
Ensembl chr 1:92,832,737...92,961,522 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:25741868 PMID:35213692 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G MIR6797 microRNA 6797 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:25741868 PMID:29766597 NCBI chr19:41,869,627...41,869,698
Ensembl chr19:41,869,627...41,869,698 		JBrowse link
G RPL5 ribosomal protein L5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPS19 ribosomal protein S19 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar
OMIM		 PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 More... NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
Diamond-Blackfan anemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IKZF4 IKAROS family zinc finger 4 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:23812780 More... NCBI chr12:56,007,504...56,038,435
Ensembl chr12:56,007,659...56,038,435 		JBrowse link
G LOC116268441 CRISPRi-validated cis-regulatory element chr12.2135 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:23812780 NCBI chr12:56,047,104...56,047,499 JBrowse link
G RPS26 ribosomal protein S26 IAGP
EXP		 ClinVar Annotator: match by term: Diamond-Blackfan anemia 10
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 | ClinVar Annotator: match by term: RPS26-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 More... NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G SUOX sulfite oxidase IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:28492532 NCBI chr12:55,997,276...56,005,525
Ensembl chr12:55,997,180...56,006,641 		JBrowse link
Diamond-Blackfan anemia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL26 ribosomal protein L26 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 11 OMIM
ClinVar		 PMID:22431104 PMID:25741868 PMID:28492532 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
Diamond-Blackfan anemia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKIRAS1 NFKB inhibitor interacting Ras like 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 12
ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition		 ClinVar PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205 NCBI chr 3:23,889,951...23,946,562
Ensembl chr 3:23,889,951...23,946,591 		JBrowse link
G RPL15 ribosomal protein L15 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 12
ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition		 ClinVar
OMIM		 PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205 NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374 		JBrowse link
Diamond-Blackfan anemia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS29 ribosomal protein S29 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 13
ClinVar Annotator: match by term: RPS29-related condition		 ClinVar
OMIM		 PMID:24829207 PMID:25741868 PMID:28492532 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP ClinVar Annotator: match by term: TSR2-related condition ClinVar PMID:24033266 PMID:28492532 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
ClinVar Annotator: match by term: TSR2-related condition		 ClinVar
OMIM		 PMID:11424144 PMID:24033266 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS26 ribosomal protein S26 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 More... NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS28 ribosomal protein S28 IAGP ClinVar Annotator: match by term: RPS28-related condition
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis		 OMIM
ClinVar		 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
Diamond-Blackfan anemia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126862570 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:41149993-41151192 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 ClinVar PMID:25424902 PMID:25741868 NCBI chr17:42,997,976...42,999,175 JBrowse link
G RPL27 ribosomal protein L27 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 16
ClinVar Annotator: match by term: RPL27-related condition		 ClinVar
OMIM		 PMID:25424902 PMID:25741868 PMID:28492532 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959 		JBrowse link
Diamond-Blackfan anemia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126805872 BRD4-independent group 4 enhancer GRCh37_chr1:153962963-153964162 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 17
ClinVar Annotator: match by term: RPS27-related condition		 ClinVar PMID:25424902 PMID:25741868 PMID:28492532 NCBI chr 1:153,990,487...153,991,686 JBrowse link
G RPS27 ribosomal protein S27 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 17
ClinVar Annotator: match by term: RPS27-related condition		 ClinVar
OMIM		 PMID:25424902 PMID:25741868 PMID:28492532 NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155 		JBrowse link
Diamond-Blackfan anemia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL18 ribosomal protein L18 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 18
ClinVar Annotator: match by term: RPL18-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:28280134 PMID:28492532 NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184 		JBrowse link
Diamond-Blackfan anemia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL35 ribosomal protein L35 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 19
ClinVar Annotator: match by term: RPL35-related condition		 ClinVar
OMIM		 PMID:28280134 PMID:28492532 NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981 		JBrowse link
Diamond-Blackfan anemia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS15A ribosomal protein S15a IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 20 ClinVar
OMIM		 PMID:27909223 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383 		JBrowse link
Diamond-Blackfan Anemia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HEATR3 HEAT repeat containing 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 21 OMIM
ClinVar		 PMID:25741868 PMID:35213692 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G LOC130058980 ATAC-STARR-seq lymphoblastoid silent region 7469 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 21 ClinVar NCBI chr16:50,066,433...50,066,692 JBrowse link
Diamond-Blackfan anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130004144 ATAC-STARR-seq lymphoblastoid active region 3613 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 3
ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 | ClinVar Annotator: match by term: RPS24-related condition		 ClinVar PMID:23812780 PMID:25741868 PMID:28492532 NCBI chr10:78,033,663...78,034,192 JBrowse link
G POLR3A RNA polymerase III subunit A IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 ClinVar PMID:25741868 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G RPS24 ribosomal protein S24 IAGP
EXP		 ClinVar Annotator: match by term: Diamond-Blackfan anemia 3
ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 | ClinVar Annotator: match by term: RPS24-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17186470 PMID:17576681 PMID:20960466 PMID:23812780 More... NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
Diamond-Blackfan anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS17 ribosomal protein S17 IAGP
EXP		 ClinVar Annotator: match by term: Diamond-Blackfan anemia 4
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17647292 PMID:19953637 PMID:23718193 PMID:23812780 PMID:25741868 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459 		JBrowse link
Diamond-Blackfan anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FYTTD1 forty-two-three domain containing 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chr 3:197,749,533...197,787,596
Ensembl chr 3:197,737,179...197,787,596 		JBrowse link
G IQCG IQ motif containing G IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition		 ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More... NCBI chr 3:197,889,077...197,960,177
Ensembl chr 3:197,889,077...197,960,142 		JBrowse link
G LRCH3 leucine rich repeats and calponin homology domain containing 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chr 3:197,791,226...197,888,436
Ensembl chr 3:197,791,226...197,888,436 		JBrowse link
G RPL35A ribosomal protein L35a IAGP
EXP		 DNA:deletions, snps:multiple (human)
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition
CTD Direct Evidence: marker/mechanism
DNA:deletions, duplication:multiple (human)		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More... RGD:11535069, RGD:11535072 NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610 		JBrowse link
G RUBCN rubicon autophagy regulator IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chr 3:197,668,867...197,749,820
Ensembl chr 3:197,668,867...197,749,727 		JBrowse link
Diamond-Blackfan anemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIPK1A divergent protein kinase domain 1A IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6		 ClinVar PMID:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 More... NCBI chr 1:92,832,729...92,961,462
Ensembl chr 1:92,832,737...92,961,522 		JBrowse link
G RPL5 ribosomal protein L5 IAGP
ISS		 DNA:snps, duplication, deletions:exons:multiple (human)
ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
OMIM:612561
DNA:mutations:multiple (human)
DNA:snps, deletions, insertions:exons, introns:multiple (human)
DNA:snp, insertion, deletion:exons:g.3G>T, g.37_38insT, g.473_474delAA (human)
DNA:insertion, nonsense mutation, deletion:cds:c.197_198insA, c.390C>G, c.169-172delAACA (human)		 ClinVar
MouseDO
OMIM
RGD		 PMID:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 More... RGD:11535122, RGD:11535969, RGD:11535967, RGD:11535132, RGD:11535130, RGD:11535128 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
Diamond-Blackfan anemia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129929673 ATAC-STARR-seq lymphoblastoid active region 374 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 7 ClinVar PMID:25741868 NCBI chr 1:23,691,768...23,692,087 JBrowse link
G RPL11 ribosomal protein L11 IAGP
ISS
EXP
ISO		 DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human)
ClinVar Annotator: match by term: Diamond-Blackfan anemia 7
OMIM:612562
CTD Direct Evidence: marker/mechanism
DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human)
DNA:mutations:multiple (human)
DNA:deletions:exons:g.58_59delCT, g.460delA (human)
DNA:deletions, snp:exons, introns:multiple (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More... RGD:11535122, RGD:11535971, RGD:11535969, RGD:11535967, RGD:11535130, RGD:11535132 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
Diamond-Blackfan anemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADI1 acireductone dioxygenase 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 2:3,497,366...3,519,531
Ensembl chr 2:3,497,366...3,519,531 		JBrowse link
G COLEC11 collectin subfamily member 11 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644 		JBrowse link
G RNASEH1 ribonuclease H1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333 		JBrowse link
G RPS7 ribosomal protein S7 IAGP
EXP		 ClinVar Annotator: match by term: Diamond-Blackfan anemia 8
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 | ClinVar Annotator: match by term: RPS7-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:23718193 More... NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920 		JBrowse link
G TRAPPC12 trafficking protein particle complex subunit 12 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 2:3,379,694...3,479,565
Ensembl chr 2:3,379,675...3,485,094 		JBrowse link
Diamond-Blackfan anemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPS10 ribosomal protein S10 IAGP
EXP		 ClinVar Annotator: match by term: Diamond-Blackfan anemia 9
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS10-NUDT3 RPS10-NUDT3 readthrough IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 ClinVar PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chr 6:34,287,194...34,426,069
Ensembl chr 6:34,284,887...34,426,071 		JBrowse link
Diamond-Blackfan Anemia-Like term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPO erythropoietin IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia-like ClinVar
OMIM		 PMID:28283061 NCBI chr 7:100,720,468...100,723,700
Ensembl chr 7:100,720,468...100,723,700 		JBrowse link
G IKZF1 IKAROS family zinc finger 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia-like ClinVar PMID:28492532 PMID:29681510 PMID:34162668 NCBI chr 7:50,303,455...50,405,101
Ensembl chr 7:50,304,068...50,405,101 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 53596
    physical disorder 7531
      congenital hypoplastic anemia 507
        pure red-cell aplasia 325
          Diamond-Blackfan anemia 322
            Diamond-Blackfan Anemia 21 2
            Diamond-Blackfan Anemia with Microtia and Cleft Palate 0
            Diamond-Blackfan Anemia-Like 2
            Diamond-Blackfan anemia 1 5
            Diamond-Blackfan anemia 10 4
            Diamond-Blackfan anemia 11 1
            Diamond-Blackfan anemia 12 2
            Diamond-Blackfan anemia 13 1
            Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 2
            Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 3
            Diamond-Blackfan anemia 16 2
            Diamond-Blackfan anemia 17 2
            Diamond-Blackfan anemia 18 1
            Diamond-Blackfan anemia 19 1
            Diamond-Blackfan anemia 2 0
            Diamond-Blackfan anemia 20 1
            Diamond-Blackfan anemia 3 3
            Diamond-Blackfan anemia 4 1
            Diamond-Blackfan anemia 5 5
            Diamond-Blackfan anemia 6 2
            Diamond-Blackfan anemia 7 2
            Diamond-Blackfan anemia 8 5
            Diamond-Blackfan anemia 9 2
Path 2
Term Annotations click to browse term
  disease 53596
    disease of anatomical entity 49284
      Hemic and Lymphatic Diseases 7403
        hematopoietic system disease 6606
          anemia 1406
            normocytic anemia 1273
              aplastic anemia 563
                congenital hypoplastic anemia 507
                  pure red-cell aplasia 325
                    Diamond-Blackfan anemia 322
                      Diamond-Blackfan Anemia 21 2
                      Diamond-Blackfan Anemia with Microtia and Cleft Palate 0
                      Diamond-Blackfan Anemia-Like 2
                      Diamond-Blackfan anemia 1 5
                      Diamond-Blackfan anemia 10 4
                      Diamond-Blackfan anemia 11 1
                      Diamond-Blackfan anemia 12 2
                      Diamond-Blackfan anemia 13 1
                      Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 2
                      Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 3
                      Diamond-Blackfan anemia 16 2
                      Diamond-Blackfan anemia 17 2
                      Diamond-Blackfan anemia 18 1
                      Diamond-Blackfan anemia 19 1
                      Diamond-Blackfan anemia 2 0
                      Diamond-Blackfan anemia 20 1
                      Diamond-Blackfan anemia 3 3
                      Diamond-Blackfan anemia 4 1
                      Diamond-Blackfan anemia 5 5
                      Diamond-Blackfan anemia 6 2
                      Diamond-Blackfan anemia 7 2
                      Diamond-Blackfan anemia 8 5
                      Diamond-Blackfan anemia 9 2
paths to the root