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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:aplastic anemia
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Accession:DOID:12449 term browser browse the term
Definition:An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. (DO)
Synonyms:exact_synonym: Aplastic Anemias;   hypoplastic anemia;   hypoplastic anemias
 narrow_synonym: APLASTIC ANEMIA, SUSCEPTIBILITY TO;   severe aplastic anemia
 primary_id: MESH:D000741
 alt_id: OMIM:609135
 xref: GARD:5836;   ICD10CM:D61.9;   ICD9CM:284.9;   NCI:C2870;   ORDO:182040
For additional species annotation, visit the Alliance of Genome Resources.


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aplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc2 anaphase promoting complex subunit 2 ISO protein:decreased expression:bone marrow (human) RGD PMID:28968996 RGD:14696669 NCBI chrNW_004955513:5,183,472...5,194,253
Ensembl chrNW_004955513:5,183,472...5,194,253
JBrowse link
G Cd40lg CD40 ligand ISO protein:decreased expression:serum (human) RGD PMID:22537155 RGD:11352267 NCBI chrNW_004955489:8,465,571...8,477,714
Ensembl chrNW_004955489:8,465,164...8,477,746
JBrowse link
G Cd86 CD86 molecule ISO protein:increased expression:blood, dendritic cell (human) RGD PMID:21234821 RGD:11354968 NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9885444 PMID:12221670 NCBI chrNW_004955408:3,452,009...3,454,255
Ensembl chrNW_004955408:3,451,965...3,454,312
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 More... NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chrNW_004955408:29,748,091...29,753,610
Ensembl chrNW_004955408:29,744,751...29,754,497
JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chrNW_004955423:1,651,562...1,748,651
Ensembl chrNW_004955423:1,710,257...1,748,651
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510
JBrowse link
G Ephx1 epoxide hydrolase 1 susceptibility
disease_progression
ISO DNA:missense mutation:exon:p.H139R (human)
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
RGD PMID:21228718 PMID:26999617 RGD:11252118 RGD:11252120 NCBI chrNW_004955520:116,363...142,983
Ensembl chrNW_004955520:116,363...128,665
JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:plasma:
protein:increased expression:CD34+ bone marrow cell
RGD PMID:7577642 PMID:11876982 RGD:11049159 RGD:11049449 NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
JBrowse link
G Flt3lg fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chrNW_004955559:1,364,056...1,371,245
Ensembl chrNW_004955559:1,365,938...1,370,002
JBrowse link
G Gata2 GATA binding protein 2 ISO mRNA:decreased expression:CD34+ cell RGD PMID:11328281 RGD:11049519 NCBI chrNW_004955429:15,326,551...15,334,774
Ensembl chrNW_004955429:15,327,113...15,336,460
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:decreased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chrNW_004955513:2,273,267...2,281,850
Ensembl chrNW_004955513:2,277,981...2,281,515
JBrowse link
G Ifng interferon gamma susceptibility
treatment
ISO DNA:polymorphism: : 874A>T(human)
DNA:repeats,haplotype:intron: -2,353 A>T(human)
DNA:repeats:intron:
OMIM
RGD
PMID:15327519 PMID:18426658 PMID:20953611 RGD:10755688 RGD:10755690 RGD:10755710 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:7694680 RGD:12910751 NCBI chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734
JBrowse link
G Nbn nibrin ISO OMIM NCBI chrNW_004955417:6,840,916...6,880,479
Ensembl chrNW_004955417:6,839,312...6,880,133
JBrowse link
G Prf1 perforin 1 ISO OMIM NCBI chrNW_004955437:20,700,912...20,705,076
Ensembl chrNW_004955437:20,700,718...20,706,929
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chrNW_004955423:1,748,809...1,758,622 JBrowse link
G Sbds SBDS ribosome maturation factor ISO OMIM NCBI chrNW_004955456:8,773,917...8,782,427 JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aplastic anemia
CTD
ClinVar
RGD
PMID:12167716 PMID:15814878 PMID:15885610 PMID:16627250 PMID:17460043 More... RGD:11038668 NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
JBrowse link
G Tgfb1 transforming growth factor beta 1 severity
susceptibility
ISO protein:decreased expression: :
DNA:polymorphism: :509C>T(human)
RGD PMID:24028718 PMID:24362456 RGD:11073601 RGD:11073606 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
JBrowse link
G Thpo thrombopoietin no_association ISO DNA:SNPs:exons:
DNA:mutation:cds:c.112C>T(human)
RGD PMID:22686250 PMID:24085763 RGD:11073679 RGD:11073680 NCBI chrNW_004955420:23,120,828...23,128,894
Ensembl chrNW_004955420:23,123,637...23,129,198
JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:12941546 RGD:10449452 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO OMIM NCBI chrNW_004955418:1,915,985...1,931,017
Ensembl chrNW_004955418:1,915,985...1,931,017
JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955438:17,067,017...17,076,162
Ensembl chrNW_004955438:17,066,955...17,075,789
JBrowse link
G Slc25a38 solute carrier family 25 member 38 ISO OMIM NCBI chrNW_004955420:29,988,147...29,996,485
Ensembl chrNW_004955420:29,988,147...29,996,486
JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO OMIM NCBI chrNW_004955438:17,067,017...17,076,162
Ensembl chrNW_004955438:17,066,955...17,075,789
JBrowse link
Autosomal Sideroblastic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia ClinVar PMID:25741868 NCBI chrNW_004955413:33,624,460...33,629,491
Ensembl chrNW_004955413:33,623,525...33,629,771
JBrowse link
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srp72 signal recognition particle 72 ISO OMIM NCBI chrNW_004955447:14,519,978...14,552,758
Ensembl chrNW_004955447:14,519,064...14,552,758
JBrowse link
congenital hypoplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004955469:9,203,433...9,227,526
Ensembl chrNW_004955469:9,203,434...9,227,865
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:16783379 PMID:20301538 PMID:20729467 PMID:22706301 PMID:23704091 More... NCBI chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152
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 chrNW_004955458:3,632,675...3,634,565
Ensembl chrNW_004955458:3,632,699...3,634,566
JBrowse link
G Rps28 ribosomal protein S28 ISO OMIM NCBI chrNW_004955563:1,073,556...1,074,149
Ensembl chrNW_004955563:1,073,774...1,074,077
JBrowse link
G Tsr2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:11424144 PMID:24942156 NCBI chrNW_004955475:1,698,926...1,703,404
Ensembl chrNW_004955475:1,698,136...1,703,404
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 chrNW_004955467:8,876,186...8,887,980
Ensembl chrNW_004955467:8,876,027...8,888,033
JBrowse link
G Alox15b arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,896,740...8,906,032
Ensembl chrNW_004955467:8,895,095...8,906,009
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,844,805...8,869,230
Ensembl chrNW_004955467:8,844,805...8,869,964
JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,590,217...8,603,778
Ensembl chrNW_004955467:8,587,873...8,602,747
JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,715,387...8,720,889
Ensembl chrNW_004955467:8,715,136...8,723,932
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 chrNW_004955467:8,766,322...8,769,169 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 chrNW_004955467:9,024,112...9,050,062
Ensembl chrNW_004955467:9,029,265...9,050,718
JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,993,528...9,010,829
Ensembl chrNW_004955467:8,993,952...9,009,928
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,673,069...8,700,730
Ensembl chrNW_004955467:8,673,128...8,702,165
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 chrNW_004955423:1,651,562...1,748,651
Ensembl chrNW_004955423:1,710,257...1,748,651
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 chrNW_004955467:9,107,089...9,210,941
Ensembl chrNW_004955467:9,107,295...9,210,941
JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:9,217,796...9,225,223
Ensembl chrNW_004955467:9,217,796...9,224,940
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 chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955543:320,087...321,311
Ensembl chrNW_004955543:319,985...323,393
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,938,057...8,949,684
Ensembl chrNW_004955467:8,938,057...8,949,684
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 chrNW_004955467:8,837,895...8,841,062
Ensembl chrNW_004955467:8,837,886...8,841,739
JBrowse link
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:9,013,279...9,020,716
Ensembl chrNW_004955467:9,013,279...9,020,716
JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:9,085,239...9,106,658
Ensembl chrNW_004955467:9,086,204...9,094,404
JBrowse link
G Klf1 Kruppel like factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chrNW_004955415:31,939,994...31,943,539
Ensembl chrNW_004955415:31,939,873...31,943,545
JBrowse link
G LOC102029382 cytochrome b5 domain-containing protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:9,077,537...9,081,759
Ensembl chrNW_004955467:9,077,537...9,081,759
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 chrNW_004955467:9,082,104...9,083,024
Ensembl chrNW_004955467:9,082,244...9,082,977
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 chrNW_004955467:8,556,722...8,570,624 JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,798,436...8,813,369
Ensembl chrNW_004955467:8,797,912...8,813,365
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979
JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336
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 chrNW_004955467:8,622,843...8,624,401
Ensembl chrNW_004955467:8,622,843...8,624,401
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 chrNW_004955452:3,626,609...3,630,911
Ensembl chrNW_004955452:3,626,609...3,633,209
JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,519,760...8,525,514
Ensembl chrNW_004955467:8,519,760...8,527,182
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 chrNW_004955423:1,748,809...1,758,622 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 chrNW_004955437:2,600,219...2,604,821 JBrowse link
G Rps17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17647292 NCBI chrNW_004955416:14,039,596...14,042,908 JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 More... RGD:1599571 RGD:1599572 NCBI chrNW_004955555:969,345...976,122
Ensembl chrNW_004955555:969,340...976,509
JBrowse link
G Rps20 ribosomal protein S20 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:32790018 NCBI chrNW_004955454:15,151,065...15,152,301 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 chrNW_004955437:14,435,822...14,442,662
Ensembl chrNW_004955437:14,434,771...14,443,106
JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955487:3,793,168...3,798,007
Ensembl chrNW_004955487:3,792,870...3,798,153
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 chrNW_004955467:8,618,572...8,628,857
Ensembl chrNW_004955467:8,618,579...8,622,870
JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955543:258,479...271,128
Ensembl chrNW_004955543:258,479...272,473
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:8,777,078...8,779,164
Ensembl chrNW_004955467:8,777,071...8,779,164
JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:9,083,623...9,084,834
Ensembl chrNW_004955467:9,083,623...9,084,834
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 PMID:30146126 NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
JBrowse link
G Trappc1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:9,010,936...9,012,796
Ensembl chrNW_004955467:9,011,138...9,012,796
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 chrNW_004955467:8,793,296...8,796,771 JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955543:243,618...253,489
Ensembl chrNW_004955543:247,631...253,274
JBrowse link
G Wrap53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004955467:9,225,506...9,240,756 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 chrNW_004955423:1,651,562...1,748,651
Ensembl chrNW_004955423:1,710,257...1,748,651
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 chrNW_004955423:1,748,809...1,758,622 JBrowse link
G Rps19 ribosomal protein S19 ISO OMIM NCBI chrNW_004955555:969,345...976,122
Ensembl chrNW_004955555:969,340...976,509
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 chrNW_004955458:3,589,865...3,627,154
Ensembl chrNW_004955458:3,614,228...3,627,930
JBrowse link
G Rps26 ribosomal protein S26 ISO OMIM NCBI chrNW_004955458:3,632,675...3,634,565
Ensembl chrNW_004955458:3,632,699...3,634,566
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 OMIM NCBI chrNW_004955467:8,519,760...8,525,514
Ensembl chrNW_004955467:8,519,760...8,527,182
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 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 ClinVar PMID:23812780 PMID:25741868 PMID:28492532 NCBI chrNW_004955430:15,736,060...15,766,362
Ensembl chrNW_004955430:15,736,341...15,758,870
JBrowse link
G Rpl15 ribosomal protein L15 ISO OMIM NCBI chrNW_004955430:15,766,465...15,769,239
Ensembl chrNW_004955430:15,766,465...15,769,239
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 OMIM NCBI chrNW_004955409:13,056,022...13,057,530
Ensembl chrNW_004955409:13,055,341...13,056,437
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 ISO OMIM NCBI chrNW_004955475:1,698,926...1,703,404
Ensembl chrNW_004955475:1,698,136...1,703,404
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 OMIM NCBI chrNW_004955451:16,788,505...16,790,468
Ensembl chrNW_004955451:16,788,551...16,790,458
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 OMIM NCBI chrNW_004955545:599,762...601,399
Ensembl chrNW_004955545:599,762...601,399
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 OMIM NCBI chrNW_004955559:1,929,643...1,933,077
Ensembl chrNW_004955559:1,930,614...1,933,037
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 OMIM NCBI chrNW_004955419:3,371,109...3,374,555
Ensembl chrNW_004955419:3,371,109...3,374,555
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 OMIM NCBI chrNW_004955442:2,530,838...2,535,421
Ensembl chrNW_004955442:2,530,838...2,535,421
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 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 ClinVar PMID:25741868 NCBI chrNW_004955437:14,446,059...14,483,336
Ensembl chrNW_004955437:14,446,024...14,483,336
JBrowse link
G Rps24 ribosomal protein S24 ISO OMIM NCBI chrNW_004955437:14,435,822...14,442,662
Ensembl chrNW_004955437:14,434,771...14,443,106
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 OMIM NCBI chrNW_004955416:14,039,596...14,042,908 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 term: Diamond-Blackfan anemia 5 ClinVar PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 More... NCBI chrNW_004955420:11,960,778...11,997,807
Ensembl chrNW_004955420:11,963,159...11,997,531
JBrowse link
G Rpl35a ribosomal protein L35a ISO OMIM NCBI chrNW_004955420:11,957,070...11,960,713
Ensembl chrNW_004955420:11,957,070...11,960,713
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 chrNW_004955423:1,651,562...1,748,651
Ensembl chrNW_004955423:1,710,257...1,748,651
JBrowse link
G Rpl5 ribosomal protein L5 ISO OMIM NCBI chrNW_004955423:1,748,809...1,758,622 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 OMIM NCBI chrNW_004955452:3,626,609...3,630,911
Ensembl chrNW_004955452:3,626,609...3,633,209
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 OMIM NCBI chrNW_004955487:3,793,168...3,798,007
Ensembl chrNW_004955487:3,792,870...3,798,153
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 OMIM NCBI chrNW_004955437:2,600,219...2,604,821 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 OMIM NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA-LIKE ClinVar NCBI chrNW_004955456:3,617,988...3,721,791
Ensembl chrNW_004955456:3,635,380...3,721,791
JBrowse link
Fanconi anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:1574115 PMID:1641028 PMID:08103176 PMID:8128956 PMID:8499901 More... NCBI chrNW_004955422:21,680,488...22,020,935 JBrowse link
G Brca2 BRCA2 DNA repair associated susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia
RGD
ClinVar
PMID:11030417 PMID:11185744 PMID:12065746 PMID:12491487 PMID:12955716 More... RGD:734658 NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 More... NCBI chrNW_004955451:2,705,834...2,820,610
Ensembl chrNW_004955451:2,707,793...2,818,592
JBrowse link
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955561:1,545,921...1,554,423
Ensembl chrNW_004955561:1,545,576...1,554,618
JBrowse link
G Fanca FA complementation group A disease_progression ISO DNA:deletion
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia, complementation group A
DNA:deletions, transitions:exon, intron:multiple
DNA:missense mutations, splice-site mutations:exon, intron:multiple
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1792455 PMID:2472832 PMID:8896563 PMID:09371798 PMID:09399890 More... RGD:11344899 RGD:11344914 RGD:11344919 NCBI chrNW_004955541:3,272,936...3,320,229
Ensembl chrNW_004955541:3,273,022...3,320,052
JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814
JBrowse link
G Fancc FA complementation group C onset ISO DNA:deletion: :322delG (human)
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human)
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... RGD:11041907 RGD:11344914 NCBI chrNW_004955422:22,031,825...22,246,478
Ensembl chrNW_004955422:22,032,258...22,247,044
JBrowse link
G Fancd2 FA complementation group D2 ISO DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9536098 PMID:11239453 PMID:14667412 PMID:16199547 PMID:16280053 More... RGD:11344904 RGD:1601137 NCBI chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9536098 PMID:16199547 PMID:16280053 PMID:17436244 PMID:17576681 More... NCBI chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130
JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:25741868 NCBI chrNW_004955437:3,369,127...3,382,072
Ensembl chrNW_004955437:3,369,042...3,382,783
JBrowse link
G Fancf FA complementation group F ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9382107 PMID:10615118 PMID:15262960 PMID:16084127 PMID:16774934 More... NCBI chrNW_004955476:3,067,491...3,069,637
Ensembl chrNW_004955476:3,067,689...3,068,728
JBrowse link
G Fancg FA complementation group G ISO FANCG, OMIM:602956
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9536098 PMID:9806458 PMID:9806548 PMID:10807541 PMID:10961856 More... RGD:1599879 NCBI chrNW_004955472:1,097,986...1,105,836
Ensembl chrNW_004955472:1,098,839...1,104,911
JBrowse link
G Fanci FA complementation group I ISO DNA:mutations: :multiple
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi's anemia
RGD
ClinVar
PMID:9536098 PMID:15477547 PMID:16177225 PMID:16199547 PMID:17088268 More... RGD:11344925 NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480
JBrowse link
G Fancl FA complementation group L ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:19405097 More... NCBI chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180
JBrowse link
G Fancm FA complementation group M ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:2867840 PMID:9536098 PMID:16116422 PMID:16199547 PMID:17289582 More... NCBI chrNW_004955409:16,751,658...16,809,352 JBrowse link
G Flt3lg fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chrNW_004955559:1,364,056...1,371,245
Ensembl chrNW_004955559:1,365,938...1,370,002
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chrNW_004955406:42,307,789...42,312,255
Ensembl chrNW_004955406:42,307,664...42,312,779
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17200668 PMID:18302019 PMID:25741868 PMID:26467025 PMID:26564480 More... NCBI chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651
JBrowse link
G Prf1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chrNW_004955437:20,700,912...20,705,076
Ensembl chrNW_004955437:20,700,718...20,706,929
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17703323 PMID:19557015 PMID:22382802 PMID:28492532 NCBI chrNW_004955422:22,362,330...22,418,062
Ensembl chrNW_004955422:22,362,221...22,427,622
JBrowse link
G Rad51c RAD51 paralog C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
CTD
ClinVar
PMID:20400963 PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 More... NCBI chrNW_004955451:4,053,195...4,178,226
Ensembl chrNW_004955451:4,145,226...4,178,487
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 PMID:19596236 More... NCBI chrNW_004955442:13,765,660...13,792,106
Ensembl chrNW_004955442:13,770,340...13,791,314
JBrowse link
G Spire2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:25741868 PMID:28492532 PMID:29098742 NCBI chrNW_004955541:3,341,705...3,359,646
Ensembl chrNW_004955541:3,341,702...3,361,320
JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chrNW_004955541:3,362,665...3,387,506
Ensembl chrNW_004955541:3,362,666...3,387,854
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:8438880 PMID:22628295 PMID:24021704 RGD:10450524 RGD:11049161 NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511
JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chrNW_004955424:25,307,221...25,397,900
Ensembl chrNW_004955424:25,282,007...25,399,348
JBrowse link
G Znf276 zinc finger protein 276 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 More... NCBI chrNW_004955541:3,259,945...3,272,990
Ensembl chrNW_004955541:3,259,479...3,272,666
JBrowse link
Fanconi anemia complementation group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:08844212 PMID:12670332 PMID:15695377 PMID:24728327 PMID:25741868 More... NCBI chrNW_004955422:21,680,488...22,020,935 JBrowse link
G Brca1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17308087 More... NCBI chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528
JBrowse link
G Fanca FA complementation group A ISO OMIM NCBI chrNW_004955541:3,272,936...3,320,229
Ensembl chrNW_004955541:3,273,022...3,320,052
JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:08128956 PMID:08348157 PMID:8799375 PMID:08844212 PMID:8882868 More... NCBI chrNW_004955422:22,031,825...22,246,478
Ensembl chrNW_004955422:22,032,258...22,247,044
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:24728327 PMID:25168418 PMID:25741868 PMID:28492532 NCBI chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 NCBI chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:28492532 NCBI chrNW_004955472:1,097,986...1,105,836
Ensembl chrNW_004955472:1,098,839...1,104,911
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:25741868 More... NCBI chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180
JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 More... NCBI chrNW_004955409:16,751,658...16,809,352 JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:25741868 More... NCBI chrNW_004955442:13,765,660...13,792,106
Ensembl chrNW_004955442:13,770,340...13,791,314
JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:25741868 More... NCBI chrNW_004955424:25,307,221...25,397,900
Ensembl chrNW_004955424:25,282,007...25,399,348
JBrowse link
G Znf276 zinc finger protein 276 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A
ClinVar Annotator: match by term: Fanconi anemia, group A
ClinVar PMID:9371798 PMID:09399890 PMID:9536098 PMID:09721219 PMID:10090479 More... NCBI chrNW_004955541:3,259,945...3,272,990
Ensembl chrNW_004955541:3,259,479...3,272,666
JBrowse link
Fanconi anemia complementation group B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancb FA complementation group B ISO OMIM NCBI chrNW_004955519:3,337,138...3,364,963
Ensembl chrNW_004955519:3,343,446...3,363,814
JBrowse link
Fanconi anemia complementation group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group C
ClinVar Annotator: match by term: Fanconi anemia, group C
ClinVar Annotator: match by term: FACC
ClinVar PMID:1574115 PMID:1641028 PMID:8103176 PMID:8128956 PMID:8499901 More... NCBI chrNW_004955422:21,680,488...22,020,935 JBrowse link
G Fancc FA complementation group C ISO OMIM NCBI chrNW_004955422:22,031,825...22,246,478
Ensembl chrNW_004955422:22,032,258...22,247,044
JBrowse link
Fanconi anemia complementation group D1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca2 BRCA2 DNA repair associated ISO OMIM NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
JBrowse link
Fanconi anemia complementation group D2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancd2 FA complementation group D2 ISO OMIM NCBI chrNW_004955561:1,460,080...1,538,026
Ensembl chrNW_004955561:1,464,869...1,538,045
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group D2 ClinVar PMID:11239453 PMID:16280053 PMID:17436244 PMID:23613520 PMID:24728327 More... NCBI chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130
JBrowse link
Fanconi anemia complementation group E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fance FA complementation group E ISO OMIM NCBI chrNW_004955437:3,369,127...3,382,072
Ensembl chrNW_004955437:3,369,042...3,382,783
JBrowse link
Fanconi anemia complementation group F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancf FA complementation group F ISO OMIM NCBI chrNW_004955476:3,067,491...3,069,637
Ensembl chrNW_004955476:3,067,689...3,068,728
JBrowse link
Fanconi anemia complementation group G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancg FA complementation group G ISO OMIM NCBI chrNW_004955472:1,097,986...1,105,836
Ensembl chrNW_004955472:1,098,839...1,104,911
JBrowse link
G Vcp valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group G ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076
JBrowse link
Fanconi anemia complementation group I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO OMIM NCBI chrNW_004955416:15,788,812...15,857,933
Ensembl chrNW_004955416:15,788,922...15,853,480
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group I ClinVar PMID:18414213 PMID:22778927 PMID:23524600 PMID:25741868 PMID:26467025 More... NCBI chrNW_004955416:15,773,005...15,788,736
Ensembl chrNW_004955416:15,773,473...15,788,651
JBrowse link
Fanconi anemia complementation group J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brip1 BRCA1 interacting helicase 1 ISO OMIM NCBI chrNW_004955451:2,705,834...2,820,610
Ensembl chrNW_004955451:2,707,793...2,818,592
JBrowse link
Fanconi anemia complementation group L term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancl FA complementation group L ISO OMIM NCBI chrNW_004955424:25,251,701...25,307,236
Ensembl chrNW_004955424:25,251,689...25,307,180
JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group L ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chrNW_004955424:25,307,221...25,397,900
Ensembl chrNW_004955424:25,282,007...25,399,348
JBrowse link
Fanconi Anemia Complementation Group M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group M ClinVar PMID:16116422 PMID:19423727 PMID:19737859 PMID:25741868 PMID:28492532 NCBI chrNW_004955409:16,751,658...16,809,352 JBrowse link
Fanconi anemia complementation group N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Palb2 partner and localizer of BRCA2 ISO OMIM NCBI chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781
JBrowse link
Fanconi anemia complementation group O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsf5 heat shock transcription factor 5 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chrNW_004955451:4,564,576...4,601,868
Ensembl chrNW_004955451:4,563,770...4,599,720
JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chrNW_004955451:4,531,966...4,557,528
Ensembl chrNW_004955451:4,532,295...4,558,225
JBrowse link
G Rad51c RAD51 paralog C ISO OMIM NCBI chrNW_004955451:4,053,195...4,178,226
Ensembl chrNW_004955451:4,145,226...4,178,487
JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chrNW_004955451:4,604,985...4,680,762 JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chrNW_004955451:4,505,318...4,530,387 JBrowse link
G Tex14 testis expressed 14, intercellular bridge forming factor ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chrNW_004955451:4,206,114...4,296,969
Ensembl chrNW_004955451:4,179,591...4,297,024
JBrowse link
Fanconi anemia complementation group P term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slx4 SLX4 structure-specific endonuclease subunit ISO OMIM NCBI chrNW_004955442:13,765,660...13,792,106
Ensembl chrNW_004955442:13,770,340...13,791,314
JBrowse link
Fanconi anemia complementation group Q term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc4 ERCC excision repair 4, endonuclease catalytic subunit ISO OMIM NCBI chrNW_004955442:4,833,453...4,861,201
Ensembl chrNW_004955442:4,831,721...4,861,122
JBrowse link
Fanconi anemia complementation group R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad51 RAD51 recombinase ISO OMIM NCBI chrNW_004955416:7,566,715...7,590,628
Ensembl chrNW_004955416:7,566,686...7,590,628
JBrowse link
Fanconi Anemia Complementation Group S term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1 DNA repair associated ISO OMIM NCBI chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528
JBrowse link
Fanconi anemia complementation group T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube2t ubiquitin conjugating enzyme E2 T ISO OMIM NCBI chrNW_004955406:38,391,824...38,400,946
Ensembl chrNW_004955406:38,391,785...38,400,995
JBrowse link
Fanconi anemia complementation group U term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xrcc2 X-ray repair cross complementing 2 ISO OMIM NCBI chrNW_004955491:6,579,443...6,629,410
Ensembl chrNW_004955491:6,599,085...6,629,439
JBrowse link
Fanconi anemia complementation group V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mad2l2 mitotic arrest deficient 2 like 2 ISO OMIM NCBI chrNW_004955486:2,191,903...2,197,193
Ensembl chrNW_004955486:2,191,903...2,198,538
JBrowse link
Fanconi Anemia Complementation Group W term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfwd3 ring finger and WD repeat domain 3 ISO OMIM NCBI chrNW_004955484:2,824,057...2,857,321
Ensembl chrNW_004955484:2,824,422...2,858,283
JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chrNW_004955420:26,342,129...26,446,959
Ensembl chrNW_004955420:26,343,649...26,441,736
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1 like ISO ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955505:3,025,742...3,081,491
Ensembl chrNW_004955505:3,023,018...3,081,680
JBrowse link
G Pus1 pseudouridine synthase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD
ClinVar
PMID:28492532 NCBI chrNW_004955482:749,265...756,964
Ensembl chrNW_004955482:748,394...756,747
JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD
ClinVar
PMID:25741868 PMID:28492532 NCBI chrNW_004955505:3,004,084...3,011,003
Ensembl chrNW_004955505:3,004,146...3,010,735
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus1 pseudouridine synthase 1 ISO OMIM NCBI chrNW_004955482:749,265...756,964
Ensembl chrNW_004955482:748,394...756,747
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1 like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 ClinVar PMID:28492532 NCBI chrNW_004955505:3,025,742...3,081,491
Ensembl chrNW_004955505:3,023,018...3,081,680
JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO OMIM NCBI chrNW_004955505:3,004,084...3,011,003
Ensembl chrNW_004955505:3,004,146...3,010,735
JBrowse link
pure red-cell aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hamp hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:25580431 RGD:11041717 NCBI chrNW_004955468:4,576,080...4,577,591
Ensembl chrNW_004955468:4,575,510...4,577,649
JBrowse link
sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16892088 PMID:18398482 PMID:18637800 RGD:11038732 NCBI chrNW_004955562:1,079,884...1,220,806
Ensembl chrNW_004955562:1,077,198...1,221,061
JBrowse link
G Alad aminolevulinate dehydratase ISO protein:decreased activity:kidney, liver, spleen RGD PMID:5891055 RGD:12904678 NCBI chrNW_004955419:14,093,010...14,104,376
Ensembl chrNW_004955419:14,093,010...14,104,545
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 susceptibility ISO DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:7949148 PMID:16716198 PMID:16892088 RGD:1599037 NCBI chrNW_004955475:2,362,368...2,382,680
Ensembl chrNW_004955475:2,362,118...2,377,864
JBrowse link
G Calr calreticulin ISO DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) RGD PMID:24325359 RGD:11352763 NCBI chrNW_004955415:31,985,147...31,989,372
Ensembl chrNW_004955415:31,985,147...31,989,372
JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19036111 NCBI chrNW_004955524:3,123,513...3,125,642
Ensembl chrNW_004955524:3,123,760...3,125,621
JBrowse link
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18637800 NCBI chrNW_004955438:17,067,017...17,076,162
Ensembl chrNW_004955438:17,066,955...17,075,789
JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955418:1,915,985...1,931,017
Ensembl chrNW_004955418:1,915,985...1,931,017
JBrowse link
G Slc25a38 solute carrier family 25 member 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412178 NCBI chrNW_004955420:29,988,147...29,996,485
Ensembl chrNW_004955420:29,988,147...29,996,486
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16910769 PMID:21326867 NCBI chrNW_004955439:21,209,101...21,223,538
Ensembl chrNW_004955439:21,209,101...21,224,163
JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:increased expression:erythroblast: RGD PMID:21326867 RGD:11062136 NCBI chrNW_004955420:12,348,392...12,372,714
Ensembl chrNW_004955420:12,348,821...12,372,691
JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 onset ISO DNA:mutations:exons:p.K299Q,A172T(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
OMIM
RGD
PMID:7560104 PMID:11110715 RGD:11035241 RGD:11035243 NCBI chrNW_004955475:2,362,368...2,382,680
Ensembl chrNW_004955475:2,362,118...2,377,864
JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chrNW_004955475:2,343,992...2,359,492
Ensembl chrNW_004955475:2,344,087...2,359,906
JBrowse link
G Slc25a38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 1 ClinVar PMID:28492532 NCBI chrNW_004955420:29,988,147...29,996,485
Ensembl chrNW_004955420:29,988,147...29,996,486
JBrowse link
Sideroblastic Anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hscb HscB mitochondrial iron-sulfur cluster cochaperone ISO OMIM NCBI chrNW_004955455:3,005,617...3,013,393 JBrowse link
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trnt1 tRNA nucleotidyl transferase 1 ISO OMIM NCBI chrNW_004955421:10,192,065...10,211,527
Ensembl chrNW_004955421:10,189,469...10,211,434
JBrowse link
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 susceptibility ISO DNA:missense mutation: :p.I400M (human) OMIM
RGD
PMID:10196363 RGD:1598600 NCBI chrNW_004955562:1,079,884...1,220,806
Ensembl chrNW_004955562:1,077,198...1,221,061
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic
ClinVar NCBI chrNW_004955475:2,362,368...2,382,680
Ensembl chrNW_004955475:2,362,118...2,377,864
JBrowse link
G Slc25a38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic ClinVar NCBI chrNW_004955420:29,988,147...29,996,485
Ensembl chrNW_004955420:29,988,147...29,996,486
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12757
    disease of anatomical entity 12441
      hematopoietic system disease 1638
        anemia 369
          aplastic anemia 142
            Aplastic Anemia, Idiopathic 0
            Bone Marrow Failure Syndrome 1 1
            WT Limb Blood Syndrome 0
            congenital hypoplastic anemia + 105
            myelophthisic anemia 0
            pure red-cell aplasia + 61
            sideroblastic anemia + 18
Path 2
Term Annotations click to browse term
  disease 12757
    disease of anatomical entity 12441
      Hemic and Lymphatic Diseases 1983
        hematopoietic system disease 1638
          bone marrow disease 520
            Bone Marrow Failure Disorders 153
              aplastic anemia 142
                Aplastic Anemia, Idiopathic 0
                Bone Marrow Failure Syndrome 1 1
                WT Limb Blood Syndrome 0
                congenital hypoplastic anemia + 105
                myelophthisic anemia 0
                pure red-cell aplasia + 61
                sideroblastic anemia + 18
paths to the root