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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:pure red-cell aplasia
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Accession:DOID:1340 term browser browse the term
Definition:Suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production.
Synonyms:exact_synonym: Erythrocyte Aplasia;   Erythrocyte Aplasias;   Pure Red-Cell Aplasias;   Red cell hypoplasia;   primary red cell aplasia
 primary_id: MESH:D012010;   RDO:0006466
 xref: GARD:7504;   NCI:C34974
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
pure red-cell aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 susceptibility ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0309 (human) RGD PMID:18689790 RGD:11041748 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphisms, haplotype:cds:HLA-DRB1*09 (human) RGD PMID:18689790 RGD:11041748 NCBI chr17:34,305,867...34,316,674
Ensembl chr17:34,305,867...34,316,674
JBrowse link
G Hamp hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:25580431 RGD:11041717 NCBI chr 7:30,942,368...30,944,029
Ensembl chr 7:30,942,368...30,944,032
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 ISO 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 chr10:128,624,529...128,626,506
Ensembl chr10:128,624,534...128,626,747
JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by OMIM:606164 OMIM
ClinVar
PMID:24942156 NCBI chr17:33,823,036...33,824,562
Ensembl chr17:33,819,027...33,824,562
JBrowse link
G Tsr2 TSR2 20S rRNA accumulation ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chr  X:151,087,094...151,096,543
Ensembl chr  X:151,087,094...151,096,543
JBrowse link
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 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,157,072...69,169,791
Ensembl chr11:69,156,989...69,169,792
JBrowse link
G Alox8 arachidonate 8-lipoxygenase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,183,885...69,197,843
Ensembl chr11:69,183,932...69,197,843
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,125,417...69,149,115
Ensembl chr11:69,125,896...69,149,115
JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor (GEF) 15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:68,928,900...68,956,934
Ensembl chr11:68,943,155...68,957,480
JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,045,624...69,051,664
Ensembl chr11:69,045,647...69,051,664
JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,059,775...69,061,576
Ensembl chr11:69,059,717...69,061,578
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,343,273...69,369,499
Ensembl chr11:69,343,273...69,369,406
JBrowse link
G Cntrob centrobin, centrosomal BRCA2 interacting protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,297,909...69,323,898
Ensembl chr11:69,299,487...69,323,775
JBrowse link
G Ctc1 CTS telomere maintenance complex component 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,015,188...69,036,473
Ensembl chr11:69,015,911...69,036,473
JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,390,930...69,395,727
Ensembl chr11:69,391,925...69,395,631
JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:20960466 PMID:22689679 More... NCBI chr 5:107,908,042...107,987,077
Ensembl chr 5:107,908,053...107,987,085
JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,420,807...69,549,108
Ensembl chr11:69,420,809...69,549,110
JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,554,092...69,561,150
Ensembl chr11:69,554,092...69,560,205
JBrowse link
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 IEA 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 1:191,005,832...191,026,190
Ensembl chr 1:191,005,847...191,026,158
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:871527 PMID:12200364 PMID:14691578 PMID:16199547 PMID:16783379 More... NCBI chr  X:7,959,260...7,976,663
Ensembl chr  X:7,959,260...7,978,071
JBrowse link
G Gh growth hormone treatment ISO RGD PMID:25492299 RGD:11352737 NCBI chr11:106,300,261...106,303,703
Ensembl chr11:106,300,271...106,301,865
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:8,004,201...8,018,492
Ensembl chr  X:8,004,200...8,018,492
JBrowse link
G Gm22442 predicted gene, 22442 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,350,518...69,350,661
Ensembl chr11:69,350,518...69,350,661
JBrowse link
G Gm26387 predicted gene, 26387 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar NCBI chr 5:107,907,345...107,907,476
Ensembl chr 5:107,907,345...107,907,476
JBrowse link
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,218,117...69,237,279
Ensembl chr11:69,218,117...69,237,036
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,118,906...69,124,054
Ensembl chr11:69,120,404...69,124,055
JBrowse link
G Kcnab3 potassium voltage-gated channel, shaker-related subfamily, beta member 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,326,258...69,333,041
Ensembl chr11:69,326,258...69,333,042
JBrowse link
G Kdm6b KDM1 lysine (K)-specific demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,398,508...69,420,367
Ensembl chr11:69,398,508...69,413,675
JBrowse link
G Klf1 Kruppel-like factor 1 (erythroid) ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr 8:84,901,982...84,905,291
Ensembl chr 8:84,901,928...84,905,291
Ensembl chr 8:84,901,928...84,905,291
JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,395,791...69,396,671
Ensembl chr11:69,395,487...69,396,680
JBrowse link
G Odf4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:68,921,835...68,927,081
Ensembl chr11:68,921,835...68,927,081
JBrowse link
G Per1 period circadian clock 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,095,108...69,109,965
Ensembl chr11:69,095,217...69,109,960
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:68,985,701...69,008,460
Ensembl chr11:68,985,697...69,008,460
JBrowse link
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Aase-Smith syndrome II
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr14:24,448,694...24,487,070
Ensembl chr14:24,448,696...24,487,058
JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:68,972,484...68,975,185
Ensembl chr11:68,972,484...68,975,185
JBrowse link
G Rnf227 ring finger protein 227 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,340,796...69,342,641
Ensembl chr11:69,340,461...69,342,641
JBrowse link
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 4:136,049,354...136,053,393
Ensembl chr 4:136,028,265...136,053,428
JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:68,901,566...68,904,534
Ensembl chr11:68,901,583...68,906,989
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:20378560 PMID:20960466 More... NCBI chr 5:107,900,508...107,909,005
Ensembl chr 5:107,900,502...107,909,005
JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:20159986 More... NCBI chr17:27,630,415...27,635,244
Ensembl chr17:27,630,418...27,636,669
JBrowse link
G Rps17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17647292 NCBI chr 7:81,342,733...81,345,234
Ensembl chr 7:81,342,732...81,345,254
JBrowse link
G Rps19 ribosomal protein S19 ISO 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 chr 7:24,884,592...24,889,811
Ensembl chr 7:24,884,371...24,889,806
JBrowse link
G Rps20 ribosomal protein S20 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:32790018 NCBI chr 4:3,831,584...3,835,655
Ensembl chr 4:3,831,334...3,835,665
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:17186470 PMID:19689926 PMID:22855961 PMID:25741868 PMID:27029625 More... NCBI chr14:24,490,678...24,496,960
Ensembl chr14:24,487,125...24,496,959
JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr12:28,630,847...28,635,953
Ensembl chr12:28,630,854...28,635,953
JBrowse link
G Rpsa ribosomal protein SA IEA 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 9:120,127,766...120,132,369
Ensembl chr 9:120,127,689...120,132,369
JBrowse link
G Slc25a35 solute carrier family 25, member 35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:68,968,096...68,972,516
Ensembl chr11:68,968,131...68,974,365
JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,073,426...69,073,562
Ensembl chr11:69,073,427...69,073,561
JBrowse link
G Snord21 small nucleolar RNA, C/D box 21 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr 5:107,904,555...107,904,648
Ensembl chr 5:107,904,555...107,904,648
JBrowse link
G Suv39h1 suppressor of variegation 3-9 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:8,061,171...8,074,760
Ensembl chr  X:8,061,171...8,074,760
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,070,809...69,073,293
Ensembl chr11:69,070,806...69,073,293
JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,396,516...69,398,234
Ensembl chr11:69,396,519...69,398,234
JBrowse link
G Trappc1 trafficking protein particle complex 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,323,986...69,325,793
Ensembl chr11:69,323,980...69,325,793
JBrowse link
G Trp53 transformation related protein 53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 PMID:30146126 NCBI chr11:69,580,348...69,591,873
Ensembl chr11:69,580,359...69,591,873
JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,088,528...69,092,381
Ensembl chr11:69,088,490...69,092,384
JBrowse link
G Was Wiskott-Aldrich syndrome ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:8,081,466...8,090,491
Ensembl chr  X:8,081,453...8,090,498
JBrowse link
G Wrap53 WD repeat containing, antisense to Trp53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chr11:69,561,754...69,580,250
Ensembl chr11:69,561,758...69,580,255
JBrowse link
G Zfp846 zinc finger protein 846 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 NCBI chr 9:20,581,299...20,605,404
Ensembl chr 9:20,581,291...20,605,409
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 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19773262 PMID:20960466 PMID:23718193 PMID:25741868 More... NCBI chr 5:107,908,042...107,987,077
Ensembl chr 5:107,908,053...107,987,085
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19773262 PMID:20960466 PMID:23718193 PMID:25741868 More... NCBI chr 5:107,900,508...107,909,005
Ensembl chr 5:107,900,502...107,909,005
JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar
OMIM
PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:12586610 More... NCBI chr 7:24,884,592...24,889,811
Ensembl chr 7:24,884,371...24,889,806
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 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:23812780 NCBI chr10:128,630,839...128,669,671
Ensembl chr10:128,630,843...128,669,358
JBrowse link
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by OMIM:613309
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10
ClinVar
OMIM
PMID:9536098 PMID:17483715 PMID:17576681 PMID:19816270 PMID:20116044 More... NCBI chr10:128,624,529...128,626,506
Ensembl chr10:128,624,534...128,626,747
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 ISO ClinVar Annotator: match by OMIM:614900 OMIM
ClinVar
PMID:22431104 NCBI chr11:68,901,566...68,904,534
Ensembl chr11:68,901,583...68,906,989
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 protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 ClinVar PMID:23812780 PMID:25741868 PMID:28492532 NCBI chr14:18,271,136...18,284,003
Ensembl chr14:18,271,136...18,284,003
JBrowse link
G Rpl15 ribosomal protein L15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12
ClinVar Annotator: match by OMIM:615550
OMIM
ClinVar
PMID:23812780 PMID:25741868 PMID:28492532 NCBI chr14:18,267,823...18,270,986
Ensembl chr14:18,267,823...18,271,391
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 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 ClinVar
OMIM
PMID:24829207 PMID:25741868 NCBI chr12:69,157,722...69,159,186
Ensembl chr12:69,157,722...69,159,186
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 20S rRNA accumulation ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS
OMIM
ClinVar
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:151,087,094...151,096,543
Ensembl chr  X:151,087,094...151,096,543
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 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 16 ClinVar
OMIM
PMID:25424902 NCBI chr11:101,442,245...101,445,596
Ensembl chr11:101,442,298...101,445,529
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 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 17 ClinVar
OMIM
PMID:25424902 NCBI chr 3:90,212,667...90,213,648
Ensembl chr 3:90,212,522...90,213,651
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 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 18 ClinVar
OMIM
PMID:28280134 NCBI chr 7:45,715,467...45,720,835
Ensembl chr 7:45,715,457...45,720,836
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 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 19 ClinVar
OMIM
PMID:28280134 NCBI chr 2:39,001,581...39,005,131
Ensembl chr 2:39,001,580...39,005,624
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 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 20 ClinVar
OMIM
PMID:27909223 NCBI chr 7:118,104,374...118,116,147
Ensembl chr 7:118,104,372...118,116,188
JBrowse link
Diamond-Blackfan anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 ClinVar PMID:25741868 NCBI chr14:24,448,694...24,487,070
Ensembl chr14:24,448,696...24,487,058
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3
ClinVar Annotator: match by OMIM:610629
OMIM
ClinVar
PMID:17186470 PMID:23812780 PMID:25741868 PMID:26845104 PMID:27329125 More... NCBI chr14:24,490,678...24,496,960
Ensembl chr14:24,487,125...24,496,959
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 ISO ClinVar Annotator: match by OMIM:612527 ClinVar
OMIM
PMID:17647292 PMID:23718193 PMID:23812780 NCBI chr 7:81,342,733...81,345,234
Ensembl chr 7:81,342,732...81,345,254
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 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
ClinVar PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 More... NCBI chr16:33,014,270...33,057,145
Ensembl chr16:33,012,683...33,056,218
JBrowse link
G Rpl35a ribosomal protein L35A ISO ClinVar Annotator: match by OMIM:612528
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
DNA:deletions, duplication:multiple (human)
DNA:deletions, snps:multiple (human)
ClinVar
OMIM
PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 More... RGD:11535072, RGD:11535069 NCBI chr16:33,056,453...33,060,189
Ensembl chr16:33,056,453...33,060,189
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 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 ClinVar PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 PMID:28166811 More... NCBI chr 5:107,908,042...107,987,077
Ensembl chr 5:107,908,053...107,987,085
JBrowse link
G Rpl5 ribosomal protein L5 ISO 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)
DNA:snps, duplication, deletions:exons:multiple (human)
OMIM
ClinVar
PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 PMID:28166811 More... RGD:11535969, RGD:11535967, RGD:11535132, RGD:11535130, RGD:11535128, RGD:11535122 NCBI chr 5:107,900,508...107,909,005
Ensembl chr 5:107,900,502...107,909,005
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 ISO
IEA
IMP
ClinVar Annotator: match by term: Diamond-Blackfan anemia 7
OMIM:612562
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)
DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human)
OMIM
ClinVar
MouseDO
PMID:16199547 PMID:19061985 PMID:19773262 PMID:23718193 PMID:25741868 More... RGD:11535971, RGD:11535969, RGD:11535967, RGD:11535130, RGD:11535132, RGD:11535122 NCBI chr 4:136,049,354...136,053,393
Ensembl chr 4:136,028,265...136,053,428
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 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8
ClinVar Annotator: match by OMIM:612563
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:19061985 PMID:23718193 PMID:25424902 More... NCBI chr12:28,630,847...28,635,953
Ensembl chr12:28,630,854...28,635,953
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 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 9
ClinVar Annotator: match by OMIM:613308
OMIM
ClinVar
PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chr17:27,630,415...27,635,244
Ensembl chr17:27,630,418...27,636,669
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 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA-LIKE ClinVar
OMIM
PMID:28283061 NCBI chr 5:137,483,020...137,485,816
Ensembl chr 5:137,483,020...137,533,242
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA-LIKE ClinVar NCBI chr11:11,684,962...11,772,930
Ensembl chr11:11,685,003...11,772,926
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14517
    disease of anatomical entity 14115
      hematopoietic system disease 1830
        anemia 431
          pure red-cell aplasia 72
            Diamond-Blackfan anemia + 69
Path 2
Term Annotations click to browse term
  disease 14517
    disease of anatomical entity 14115
      Hemic and Lymphatic Diseases 2241
        hematopoietic system disease 1830
          bone marrow disease 599
            Bone Marrow Failure Disorders 178
              aplastic anemia 166
                pure red-cell aplasia 72
                  Diamond-Blackfan anemia + 69
paths to the root