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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 congenital hypoplastic anemia 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;   Congenital Erythroid Hypoplastic Anemia;   DBA;   Diamond-Blackfan type anemia;   chronic congenital agenerative anemia;   chronic congenital aregenerative anemia;   chronic constitutional pure red cell anaemia;   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
 primary_id: MESH:D029503
 xref: GARD:6274;   NCI:C61236;   OMIM:PS105650;   ORDO:124
For additional species annotation, visit the Alliance of Genome Resources.


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Diamond-Blackfan anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALOX12B arachidonate 12-lipoxygenase, 12R type IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,039,059...8,049,134
Ensembl chr17:8,039,034...8,049,134
JBrowse link
G ALOXE3 arachidonate lipoxygenase 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,095,900...8,118,916
Ensembl chr17:8,095,900...8,119,047
JBrowse link
G ARHGEF15 Rho guanine nucleotide exchange factor 15 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,310,241...8,322,516
Ensembl chr17:8,310,241...8,322,514
JBrowse link
G AURKB aurora kinase B IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,204,731...8,210,767
Ensembl chr17:8,204,733...8,210,600
JBrowse link
G BORCS6 BLOC-1 related complex subunit 6 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,188,345...8,190,180
Ensembl chr17:8,188,345...8,190,180
JBrowse link
G CHD3 chromodomain helicase DNA binding protein 3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,884,764...7,912,755
Ensembl chr17:7,884,796...7,912,760
JBrowse link
G CNTROB centrobin, centriole duplication and spindle assembly protein IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,932,054...7,949,920
Ensembl chr17:7,932,101...7,949,920
JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,224,815...8,248,079
Ensembl chr17:8,224,815...8,248,056
JBrowse link
G CYB5D1 cytochrome b5 domain containing 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,858,003...7,862,282
Ensembl chr17:7,857,746...7,862,282
JBrowse link
G DIPK1A divergent protein kinase domain 1A IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:20960466 PMID:22689679 More... NCBI chr 1:92,832,729...92,961,462
Ensembl chr 1:92,832,737...92,961,522
JBrowse link
G DNAH2 dynein axonemal heavy chain 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,717,744...7,833,742
Ensembl chr17:7,717,354...7,833,744
JBrowse link
G EFNB3 ephrin B3 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,705,202...7,711,372
Ensembl chr17:7,705,202...7,711,372
JBrowse link
G FLVCR1 FLVCR 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 GATA1 GATA binding protein 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:871527 PMID:12200364 PMID:14691578 PMID:16199547 PMID:16783379 More... NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,562...48,794,311
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 GLOD5 glyoxalase domain containing 5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:48,761,747...48,773,648
Ensembl chr  X:48,761,747...48,773,648
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,002,615...8,020,342
Ensembl chr17:8,002,615...8,020,342
JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,120,590...8,126,032
Ensembl chr17:8,120,592...8,124,106
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:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,921,859...7,930,346
Ensembl chr17:7,921,859...7,929,856
JBrowse link
G KDM6B lysine demethylase 6B IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,834,210...7,854,796
Ensembl chr17:7,834,217...7,854,796
JBrowse link
G KLF1 Kruppel like 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:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,358,822...8,376,704
Ensembl chr17:8,356,902...8,376,704
JBrowse link
G LINC00324 long intergenic non-protein coding RNA 324 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,220,630...8,224,043
Ensembl chr17:8,220,642...8,224,043
JBrowse link
G LOC100128288 uncharacterized LOC100128288 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,358,413...8,360,541 JBrowse link
G LOC106794092 nonconserved acetylation island sequence 72 enhancer IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,199,936...8,200,425 JBrowse link
G LOC112533665 Sharpr-MPRA regulatory region 4002 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,857,471...7,857,765 JBrowse link
G LOC116276454 CRISPRi-validated cis-regulatory element chr17.641 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,304,515...8,304,903 JBrowse link
G LOC119407405 CRISPRi-FlowFISH-validated PLP2 regulatory element IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:48,793,298...48,793,798 JBrowse link
G MIR4314 microRNA 4314 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,186,945...8,187,004
Ensembl chr17:8,186,945...8,187,004
JBrowse link
G MIR6883 microRNA 6883 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,144,994...8,145,071
Ensembl chr17:8,144,994...8,145,071
JBrowse link
G NAA38 N-alpha-acetyltransferase 38, NatC auxiliary subunit IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,856,685...7,885,420
Ensembl chr17:7,856,685...7,885,238
JBrowse link
G ODF4 outer dense fiber of sperm tails 4 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,339,840...8,346,048
Ensembl chr17:8,339,840...8,346,048
JBrowse link
G PER1 period circadian regulator 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,140,470...8,156,360
Ensembl chr17:8,140,472...8,156,506
JBrowse link
G PFAS phosphoribosylformylglycinamidine synthase IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,247,596...8,270,491
Ensembl chr17:8,247,618...8,270,491
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 chr10:77,969,251...78,029,515
JBrowse link
G RANGRF RAN guanine nucleotide release factor IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,913,324...7,916,318
Ensembl chr17:7,913,339...7,916,289
JBrowse link
G RPL11 ribosomal protein L11 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835
JBrowse link
G RPL26 ribosomal protein L26 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213
JBrowse link
G RPL5 ribosomal protein L5 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:20378560 PMID:20960466 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: Diamond-Blackfan anemia 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: Diamond-Blackfan anemia 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 RPS17 ribosomal protein S17 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17647292 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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 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 PMID:17186470 PMID:19689926 PMID:22855961 PMID:25741868 PMID:27029625 More... NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813
JBrowse link
G RPS7 ribosomal protein S7 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar 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...39,412,542
JBrowse link
G SCARNA21 small Cajal body-specific RNA 21 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,906,123...7,906,260
Ensembl chr17:7,906,122...7,906,260
JBrowse link
G SLC25A35 solute carrier family 25 member 35 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,287,763...8,295,689
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 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:22267198 PMID:22387016 PMID:28492532 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 SUV39H1 SUV39H1 histone lysine methyltransferase IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:48,695,554...48,709,016
Ensembl chr  X:48,695,554...48,709,016
JBrowse link
G TMEM107 transmembrane protein 107 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399
JBrowse link
G TMEM88 transmembrane protein 88 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,854,886...7,856,099
Ensembl chr17:7,855,066...7,856,099
JBrowse link
G TP53 tumor protein p53 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 PMID:30146126 NCBI chr17:7,668,421...7,687,490
Ensembl chr17:7,661,779...7,687,538
JBrowse link
G TRAPPC1 trafficking protein particle complex subunit 1 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 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:22267198 PMID:22387016 PMID:28492532 NCBI chr17:8,186,358...8,186,429 JBrowse link
G VAMP2 vesicle associated membrane protein 2 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 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:28492532 NCBI chr  X:48,683,753...48,691,427
Ensembl chr  X:48,676,596...48,691,427
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
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
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:24942156 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: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar
OMIM
PMID:24942156 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 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:19773262 PMID:20960466 PMID:23718193 PMID:25741868 More... NCBI chr 1:92,832,729...92,961,462
Ensembl chr 1:92,832,737...92,961,522
JBrowse link
G MIR6797 microRNA 6797 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar 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:19773262 PMID:20960466 PMID:23718193 PMID:25741868 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:12586610 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:23812780 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...56,047,478 JBrowse link
G RPS26 ribosomal protein S26 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar
OMIM
PMID:9536098 PMID:17483715 PMID:17576681 PMID:19816270 PMID:20116044 More... NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697
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 ClinVar
OMIM
PMID:22431104 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 PMID:23812780 PMID:25741868 PMID:28492532 NCBI chr 3:23,889,949...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
OMIM
PMID:23812780 PMID:25741868 PMID:28492532 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
OMIM
PMID:24829207 PMID:25741868 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 TSR2 TSR2 ribosome maturation factor IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis ClinVar
OMIM
PMID:11424144 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 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPL27 ribosomal protein L27 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 ClinVar
OMIM
PMID:25424902 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 RPS27 ribosomal protein S27 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 ClinVar
OMIM
PMID:25424902 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
OMIM
PMID:28280134 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
OMIM
PMID:28280134 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 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr10:77,969,251...78,029,515
JBrowse link
G RPS24 ribosomal protein S24 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 ClinVar
OMIM
PMID:17186470 PMID:23812780 PMID:25741868 PMID:26845104 PMID:27329125 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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 4 ClinVar
OMIM
PMID:17647292 PMID:23718193 PMID:23812780 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 IQCG IQ motif containing G IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 More... NCBI chr 3:197,889,077...197,960,111
Ensembl chr 3:197,889,077...197,960,142
JBrowse link
G RPL35A ribosomal protein L35a IAGP DNA:deletions, snps:multiple (human)
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
DNA:deletions, duplication:multiple (human)
ClinVar
OMIM
PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 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
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 PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 PMID:28166811 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 DNA:snps, duplication, deletions:exons:multiple (human)
ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
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
OMIM
PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 PMID:28166811 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 RPL11 ribosomal protein L11 IAGP
ISO
DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human)
ClinVar Annotator: match by term: Diamond-Blackfan anemia 7
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
OMIM
PMID:16199547 PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 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 RPS7 ribosomal protein S7 IAGP ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:19061985 PMID:23718193 PMID:25424902 More... NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920
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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 ClinVar
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 NCBI chr 7:50,303,453...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 20257
    physical disorder 3503
      congenital hypoplastic anemia 158
        Diamond-Blackfan anemia 100
          Diamond Blackfan anemia 15 with mandibulofacial dysostosis 3
          Diamond-Blackfan Anemia with Microtia and Cleft Palate 0
          Diamond-Blackfan Anemia-Like 2
          Diamond-Blackfan anemia 1 4
          Diamond-Blackfan anemia 10 3
          Diamond-Blackfan anemia 11 1
          Diamond-Blackfan anemia 12 2
          Diamond-Blackfan anemia 13 1
          Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 1
          Diamond-Blackfan anemia 16 1
          Diamond-Blackfan anemia 17 1
          Diamond-Blackfan anemia 18 1
          Diamond-Blackfan anemia 19 1
          Diamond-Blackfan anemia 2 0
          Diamond-Blackfan anemia 20 1
          Diamond-Blackfan anemia 3 2
          Diamond-Blackfan anemia 4 1
          Diamond-Blackfan anemia 5 2
          Diamond-Blackfan anemia 6 2
          Diamond-Blackfan anemia 7 1
          Diamond-Blackfan anemia 8 1
          Diamond-Blackfan anemia 9 2
Path 2
Term Annotations click to browse term
  disease 20257
    disease of anatomical entity 18858
      Hemic and Lymphatic Diseases 2463
        hematopoietic system disease 2018
          bone marrow disease 664
            Bone Marrow Failure Disorders 221
              aplastic anemia 208
                pure red-cell aplasia 103
                  Diamond-Blackfan anemia 100
                    Diamond Blackfan anemia 15 with mandibulofacial dysostosis 3
                    Diamond-Blackfan Anemia with Microtia and Cleft Palate 0
                    Diamond-Blackfan Anemia-Like 2
                    Diamond-Blackfan anemia 1 4
                    Diamond-Blackfan anemia 10 3
                    Diamond-Blackfan anemia 11 1
                    Diamond-Blackfan anemia 12 2
                    Diamond-Blackfan anemia 13 1
                    Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 1
                    Diamond-Blackfan anemia 16 1
                    Diamond-Blackfan anemia 17 1
                    Diamond-Blackfan anemia 18 1
                    Diamond-Blackfan anemia 19 1
                    Diamond-Blackfan anemia 2 0
                    Diamond-Blackfan anemia 20 1
                    Diamond-Blackfan anemia 3 2
                    Diamond-Blackfan anemia 4 1
                    Diamond-Blackfan anemia 5 2
                    Diamond-Blackfan anemia 6 2
                    Diamond-Blackfan anemia 7 1
                    Diamond-Blackfan anemia 8 1
                    Diamond-Blackfan anemia 9 2
paths to the root