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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.



show annotations for term's descendants           Sort by:
 
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 chr 2:25,272,466...25,285,916
Ensembl chr 2:25,272,478...25,285,915
JBrowse link
G Cd40lg CD40 ligand ISO protein:decreased expression:serum (human) RGD PMID:22537155 RGD:11352267 NCBI chr  X:57,212,143...57,224,042
Ensembl chr  X:57,212,143...57,224,042
JBrowse link
G Cd86 CD86 antigen ISO protein:increased expression:blood, dendritic cell (human) RGD PMID:21234821 RGD:11354968 NCBI chr16:36,568,956...36,666,158
Ensembl chr16:36,603,869...36,666,081
JBrowse link
G Csf2 colony stimulating factor 2 (granulocyte-macrophage) ISO CTD Direct Evidence: therapeutic CTD PMID:9885444 PMID:12221670 NCBI chr11:54,247,270...54,249,899
Ensembl chr11:54,247,271...54,249,667
JBrowse link
G Csf3 colony stimulating factor 3 (granulocyte) ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 More... NCBI chr11:98,700,183...98,703,631
Ensembl chr11:98,701,263...98,703,629
JBrowse link
G Ddx41 DEAD box helicase 41 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr13:55,530,410...55,536,658
Ensembl chr13:55,530,410...55,536,658
JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 5:107,908,042...107,987,077
Ensembl chr 5:107,908,053...107,987,085
JBrowse link
G Dkc1 dyskeratosis congenita 1, dyskerin ISO DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chr  X:75,095,854...75,109,776
Ensembl chr  X:75,095,854...75,109,777
JBrowse link
G Ephx1 epoxide hydrolase 1, microsomal 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 chr 1:180,989,556...181,017,569
Ensembl chr 1:180,976,210...181,020,904
JBrowse link
G Fas Fas (TNF receptor superfamily member 6) ISO protein:increased expression:CD34+ bone marrow cell
protein:decreased expression:plasma:
RGD PMID:7577642 PMID:11876982 RGD:11049159, RGD:11049449 NCBI chr19:34,290,647...34,327,775
Ensembl chr19:34,290,666...34,327,772
JBrowse link
G Fasl Fas ligand (TNF superfamily, member 6) ISO RGD PMID:16212902 RGD:1582425 NCBI chr 1:161,780,691...161,788,495
Ensembl chr 1:161,780,689...161,788,495
JBrowse link
G Flt3l FMS-like tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 7:45,131,183...45,136,490
Ensembl chr 7:45,129,788...45,136,432
JBrowse link
G Gata2 GATA binding protein 2 ISO mRNA:decreased expression:CD34+ cell RGD PMID:11328281 RGD:11049519 NCBI chr 6:88,193,891...88,207,032
Ensembl chr 6:88,193,891...88,207,032
JBrowse link
G Gfi1b growth factor independent 1B ISO mRNA:decreased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 2:28,609,450...28,621,982
Ensembl chr 2:28,609,450...28,621,982
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 susceptibility ISO in male RGD PMID:16079101 RGD:10450858 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 susceptibility
no_association
ISO RGD PMID:14681495 PMID:16227674 RGD:10450790, RGD:10450878 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha treatment ISO DNA:polymorphism, haplotype RGD PMID:12070003 PMID:7994040 RGD:11041765, RGD:11041775 NCBI chr17:34,282,744...34,287,823
Ensembl chr17:34,282,744...34,287,823
JBrowse link
G H2-Ab1 histocompatibility 2, class II antigen A, beta 1 severity
treatment
ISO DNA:polymorphism, haplotype RGD PMID:24979673 PMID:7994040 PMID:12070003 RGD:11041757, RGD:11041775, RGD:11041765 NCBI chr17:34,263,227...34,269,418
Ensembl chr17:34,257,689...34,269,419
JBrowse link
G Ifng interferon gamma susceptibility
treatment
ISO
IEA
OMIM:609135
ClinVar Annotator: match by OMIM:609135
DNA:polymorphism: : 874A>T(human)
DNA:repeats,haplotype:intron: -2,353 A>T(human)
DNA:repeats:intron:
OMIM
MouseDO
ClinVar
RGD
PMID:18426658 PMID:20953611 PMID:15327519 RGD:10755710, RGD:10755690, RGD:10755688 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase severity ISO RGD PMID:7694680 RGD:12910751 NCBI chr 5:75,574,987...75,656,722
Ensembl chr 5:75,574,916...75,656,722
JBrowse link
G LOC110806267 Tert 5' regulatory region ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:24033266 PMID:28492532 NCBI chr13:73,622,544...73,627,391 JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Aplastic anemia OMIM
ClinVar
PMID:11325820 PMID:14559852 PMID:15338273 PMID:16474176 PMID:16810201 More... NCBI chr 4:15,957,587...15,992,589
Ensembl chr 4:15,957,925...15,992,589
JBrowse link
G Prf1 perforin 1 (pore forming protein) ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar
OMIM
PMID:11179007 PMID:11756153 PMID:14757862 PMID:15755897 PMID:16278825 More... NCBI chr10:61,297,751...61,304,684
Ensembl chr10:61,297,833...61,304,680
JBrowse link
G Rasa3 RAS p21 protein activator 3 IEA OMIM:609135 MouseDO NCBI chr 8:13,567,218...13,677,587
Ensembl chr 8:13,566,948...13,677,603
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr 5:107,900,508...107,909,005
Ensembl chr 5:107,900,502...107,909,005
JBrowse link
G Sbds SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Aplastic anemia, susceptibility to OMIM
ClinVar
PMID:12496757 PMID:14749921 PMID:15769891 PMID:15860664 PMID:15942154 More... NCBI chr 5:130,245,732...130,255,530
Ensembl chr 5:130,245,731...130,255,530
JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:12090986 PMID:12676774 PMID:12972604 PMID:15082312 PMID:15098033 More... NCBI chr 3:96,414,437...96,414,833
Ensembl chr 3:96,414,437...96,414,859
Ensembl chr 3:96,414,437...96,414,859
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by OMIM:609135
ClinVar Annotator: match by term: Aplastic anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:12167716 PMID:15814878 PMID:15885610 PMID:16627250 PMID:17460043 More... RGD:11038668 NCBI chr13:73,626,911...73,649,843
Ensembl chr13:73,626,911...73,649,843
JBrowse link
G Tgfb1 transforming growth factor, beta 1 susceptibility
severity
ISO DNA:polymorphism: :509C>T(human)
protein:decreased expression: :
RGD PMID:24362456 PMID:24028718 RGD:11073601, RGD:11073606 NCBI chr 7:25,687,002...25,705,077
Ensembl chr 7:25,687,002...25,705,077
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 chr16:20,724,454...20,734,511
Ensembl chr16:20,724,454...20,734,511
JBrowse link
G Tinf2 Terf1 (TRF1)-interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr14:55,676,208...55,682,159
Ensembl chr14:55,674,689...55,681,820
JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:12941546 RGD:10449452 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
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 9 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, autosomal dominant ClinVar
OMIM
PMID:3653362 PMID:26491070 NCBI chr18:34,937,414...34,954,351
Ensembl chr18:34,937,414...34,954,357
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 chr12:105,032,618...105,040,911
Ensembl chr12:105,032,688...105,042,906
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory
ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive
ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
OMIM
ClinVar
PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 More... NCBI chr 9:120,110,377...120,126,093
Ensembl chr 9:120,110,374...120,124,504
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 ClinVar Annotator: match by term: Sideroblastic anemia 3, pyridoxine-refractory ClinVar
OMIM
PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 More... NCBI chr12:105,032,618...105,040,911
Ensembl chr12:105,032,688...105,042,906
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 chr15:89,472,476...89,477,424
Ensembl chr15:89,472,476...89,477,425
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 ClinVar Annotator: match by term: Bone marrow failure syndrome 1
ClinVar Annotator: match by OMIM:614675
OMIM
ClinVar
PMID:22541560 PMID:25741868 PMID:28492532 NCBI chr 5:76,974,701...76,999,935
Ensembl chr 5:76,974,683...76,999,937
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 chr 5:31,054,620...31,078,479
Ensembl chr 5:31,054,780...31,078,479
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 chr  X:7,959,260...7,976,663
Ensembl chr  X:7,959,260...7,978,071
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr16:33,954,782...33,967,038
Ensembl chr16:33,954,782...33,967,038
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
RGD
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
RGD
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
RGD
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
RGD
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
Fanconi anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O 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 chr13:62,964,893...63,326,096
Ensembl chr13:62,964,893...63,326,096
JBrowse link
G Brca2 breast cancer 2, early onset susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
RGD
PMID:11030417 PMID:11185744 PMID:12491487 PMID:12955716 PMID:12960223 More... RGD:734658 NCBI chr 5:150,522,297...150,570,147
Ensembl chr 5:150,522,630...150,570,329
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
CTD
ClinVar
PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 More... NCBI chr11:86,058,136...86,201,215
Ensembl chr11:86,058,138...86,201,193
JBrowse link
G Brk1 BRICK1, SCAR/WAVE actin-nucleating complex subunit ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:113,604,772...113,616,951
Ensembl chr 6:113,604,772...113,616,951
JBrowse link
G Fanca Fanconi anemia, complementation group A disease_progression ISO ClinVar Annotator: match by OMIM:227650
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
CTD Direct Evidence: marker/mechanism
DNA:deletions, transitions:exon, intron:multiple
DNA:missense mutations, splice-site mutations:exon, intron:multiple
ClinVar
CTD
RGD
PMID:1792455 PMID:2472832 PMID:8896563 PMID:09371798 PMID:9399890 More... RGD:11344919, RGD:11344914, RGD:11344899 NCBI chr 8:123,266,294...123,318,651
Ensembl chr 8:123,268,300...123,318,576
JBrowse link
G Fancb Fanconi anemia, 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 chr  X:164,980,480...164,997,272
Ensembl chr  X:164,980,592...164,997,272
JBrowse link
G Fancc Fanconi anemia, complementation group C onset ISO ClinVar Annotator: match by term: Fanconi Anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi's anemia
CTD Direct Evidence: marker/mechanism
DNA:deletion: :322delG (human)
DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human)
ClinVar
CTD
RGD
PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... RGD:11344914, RGD:11041907 NCBI chr13:63,301,334...63,497,292
Ensembl chr13:63,285,043...63,497,278
JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
ClinVar
CTD
RGD
PMID:9536098 PMID:11239453 PMID:14667412 PMID:16199547 PMID:16280053 More... RGD:11344904, RGD:1601137 NCBI chr 6:113,531,640...113,597,020
Ensembl chr 6:113,531,682...113,597,017
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 chr 6:113,596,761...113,600,715
Ensembl chr 6:113,596,761...113,600,715
JBrowse link
G Fance Fanconi anemia, complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:25741868 NCBI chr17:28,313,530...28,326,574
Ensembl chr17:28,313,519...28,326,572
JBrowse link
G Fancf Fanconi anemia, complementation group F ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:9382107 PMID:10615118 PMID:15262960 PMID:16084127 PMID:16774934 More... NCBI chr 7:51,860,577...51,862,267
Ensembl chr 7:51,860,577...51,862,267
JBrowse link
G Fancg Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:9806458 PMID:09806548 PMID:10807541 PMID:10961856 More... NCBI chr 4:43,002,337...43,010,567
Ensembl chr 4:43,002,343...43,010,506
JBrowse link
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia
DNA:mutations: :multiple
ClinVar
RGD
PMID:9536098 PMID:15477547 PMID:16177225 PMID:16199547 PMID:17088268 More... RGD:11344925 NCBI chr 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G Fancl Fanconi anemia, complementation group L ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:19405097 More... NCBI chr11:26,387,084...26,471,883
Ensembl chr11:26,386,135...26,471,876
JBrowse link
G Fancm Fanconi anemia, complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2867840 PMID:9536098 PMID:16116422 PMID:16199547 PMID:17289582 More... NCBI chr12:65,074,110...65,131,842
Ensembl chr12:65,075,603...65,132,058
JBrowse link
G Flt3l FMS-like tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 7:45,131,183...45,136,490
Ensembl chr 7:45,129,788...45,136,432
JBrowse link
G Gstm1 glutathione S-transferase, mu 1 disease_progression ISO RGD PMID:16173971 RGD:10450839 NCBI chr 3:108,012,250...108,017,973
Ensembl chr 3:108,012,255...108,017,973
JBrowse link
G Gstt1 glutathione S-transferase, theta 1 treatment ISO RGD PMID:16173971 RGD:10450839 NCBI chr10:75,783,813...75,798,584
Ensembl chr10:75,783,813...75,798,584
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr10:118,441,046...118,445,894
Ensembl chr10:118,441,046...118,445,892
JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 1:131,019,845...131,024,970
Ensembl chr 1:131,019,845...131,024,974
JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr 8:123,407,082...123,410,744
Ensembl chr 8:123,407,107...123,410,744
JBrowse link
G Mx1 MX dynamin-like GTPase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr16:97,447,035...97,462,906
Ensembl chr16:97,447,035...97,462,907
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 chr 7:122,107,262...122,132,980
Ensembl chr 7:122,107,262...122,132,985
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
JBrowse link
G Prf1 perforin 1 (pore forming protein) ISO RGD PMID:21542827 RGD:6482802 NCBI chr10:61,297,751...61,304,684
Ensembl chr10:61,297,833...61,304,680
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17703323 PMID:19557015 PMID:22382802 PMID:28492532 NCBI chr13:63,508,328...63,573,460
Ensembl chr13:63,508,328...63,573,598
JBrowse link
G Rad51c RAD51 paralog C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:20400963 PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 More... NCBI chr11:87,376,645...87,404,954
Ensembl chr11:87,376,645...87,404,954
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 PMID:19596236 More... NCBI chr16:3,979,105...4,003,829
Ensembl chr16:3,979,105...4,003,770
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 chr 8:123,332,713...123,369,518
Ensembl chr 8:123,332,713...123,369,515
JBrowse link
G Tcf25 transcription factor 25 (basic helix-loop-helix) ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chr 8:123,370,772...123,404,174
Ensembl chr 8:123,373,753...123,403,835
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:22628295 PMID:8438880 PMID:24021704 RGD:10450524, RGD:11049161 NCBI chr17:35,199,367...35,202,007
Ensembl chr17:35,199,381...35,202,007
JBrowse link
G Usp1 ubiquitin specific peptidase 1 IEA MouseDO NCBI chr 4:98,923,810...98,935,543
Ensembl chr 4:98,923,810...98,935,543
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 chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 6:113,623,994...113,631,634
Ensembl chr 6:113,623,959...113,631,633
JBrowse link
G Vrk2 vaccinia related kinase 2 ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chr11:26,471,398...26,594,012
Ensembl chr11:26,471,322...26,593,999
JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 More... NCBI chr 8:123,254,195...123,270,551
Ensembl chr 8:123,254,195...123,269,745
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 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:08844212 PMID:12670332 PMID:15695377 PMID:24728327 PMID:25741868 More... NCBI chr13:62,964,893...63,326,096
Ensembl chr13:62,964,893...63,326,096
JBrowse link
G Brca1 breast cancer 1, early onset ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17308087 More... NCBI chr11:101,488,761...101,551,955
Ensembl chr11:101,488,764...101,551,955
JBrowse link
G Fanca Fanconi anemia, complementation group A ISO
IEA
ClinVar Annotator: match by term: Fanconi anemia, complementation group A
ClinVar Annotator: match by term: Fanconi anemia, group A
OMIM:227650
ClinVar
OMIM
MouseDO
PMID:1792455 PMID:2339692 PMID:2472832 PMID:8896563 PMID:08896564 More... NCBI chr 8:123,266,294...123,318,651
Ensembl chr 8:123,268,300...123,318,576
JBrowse link
G Fancb Fanconi anemia, complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:164,980,480...164,997,272
Ensembl chr  X:164,980,592...164,997,272
JBrowse link
G Fancc Fanconi anemia, 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 chr13:63,301,334...63,497,292
Ensembl chr13:63,285,043...63,497,278
JBrowse link
G Fancd2 Fanconi anemia, complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:24728327 PMID:25168418 PMID:25741868 PMID:28492532 NCBI chr 6:113,531,640...113,597,020
Ensembl chr 6:113,531,682...113,597,017
JBrowse link
G Fancd2os Fancd2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 NCBI chr 6:113,596,761...113,600,715
Ensembl chr 6:113,596,761...113,600,715
JBrowse link
G Fancg Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:28492532 NCBI chr 4:43,002,337...43,010,567
Ensembl chr 4:43,002,343...43,010,506
JBrowse link
G Fanci Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G Fancl Fanconi anemia, 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 chr11:26,387,084...26,471,883
Ensembl chr11:26,386,135...26,471,876
JBrowse link
G Fancm Fanconi anemia, 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 chr12:65,074,110...65,131,842
Ensembl chr12:65,075,603...65,132,058
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:25741868 More... NCBI chr16:3,979,105...4,003,829
Ensembl chr16:3,979,105...4,003,770
JBrowse link
G Vrk2 vaccinia related 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 chr11:26,471,398...26,594,012
Ensembl chr11:26,471,322...26,593,999
JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:9371798 PMID:09399890 PMID:9536098 PMID:09721219 PMID:10090479 More... NCBI chr 8:123,254,195...123,270,551
Ensembl chr 8:123,254,195...123,269,745
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 Fanconi anemia, complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group B
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 More... NCBI chr  X:164,980,480...164,997,272
Ensembl chr  X:164,980,592...164,997,272
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 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group C
ClinVar Annotator: match by term: Fanconi anemia, group C
ClinVar PMID:1574115 PMID:1641028 PMID:08103176 PMID:8128956 PMID:8499901 More... NCBI chr13:62,964,893...63,326,096
Ensembl chr13:62,964,893...63,326,096
JBrowse link
G Fancc Fanconi anemia, complementation group C ISO
IEA
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
OMIM:227645
ClinVar Annotator: match by OMIM:227645
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... NCBI chr13:63,301,334...63,497,292
Ensembl chr13:63,285,043...63,497,278
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 breast cancer 2, early onset ISO
IEA
ClinVar Annotator: match by term: Fanconi anemia, complementation group D1
OMIM:605724
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:1234 PMID:1232165 PMID:1628499 PMID:1843150 PMID:1990134 More... NCBI chr 5:150,522,297...150,570,147
Ensembl chr 5:150,522,630...150,570,329
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 Fanconi anemia, complementation group D2 ISO
IEA
ClinVar Annotator: match by term: Fanconi anemia, complementation group D2
OMIM:227646
ClinVar Annotator: match by OMIM:227646
OMIM
ClinVar
MouseDO
PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 PMID:17436244 More... NCBI chr 6:113,531,640...113,597,020
Ensembl chr 6:113,531,682...113,597,017
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 chr 6:113,596,761...113,600,715
Ensembl chr 6:113,596,761...113,600,715
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 Fanconi anemia, complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group E
ClinVar Annotator: match by OMIM:600901
OMIM
ClinVar
PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 More... NCBI chr17:28,313,530...28,326,574
Ensembl chr17:28,313,519...28,326,572
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 Fanconi anemia, complementation group F ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group F
ClinVar Annotator: match by OMIM:603467
OMIM
ClinVar
PMID:9382107 PMID:10615118 PMID:16084127 PMID:16774934 PMID:17924555 More... NCBI chr 7:51,860,577...51,862,267
Ensembl chr 7:51,860,577...51,862,267
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 Fanconi anemia, complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group G
ClinVar Annotator: match by OMIM:614082
OMIM
ClinVar
PMID:9806458 PMID:09806548 PMID:10807541 PMID:10961856 PMID:11093276 More... NCBI chr 4:43,002,337...43,010,567
Ensembl chr 4:43,002,343...43,010,506
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 chr 4:42,979,964...43,000,507
Ensembl chr 4:42,979,963...43,000,507
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 Fanconi anemia, complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group I
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609053
OMIM
ClinVar
RGD
PMID:17412408 PMID:17452773 PMID:17460694 PMID:17924555 PMID:18414213 More... RGD:11344924 NCBI chr 7:79,392,312...79,450,266
Ensembl chr 7:79,391,929...79,450,264
JBrowse link
G Polg polymerase (DNA directed), gamma ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group I ClinVar PMID:18414213 PMID:22778927 PMID:23524600 PMID:25741868 PMID:26467025 More... NCBI chr 7:79,446,231...79,467,911
Ensembl chr 7:79,446,231...79,466,362
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 protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group J
DNA:nonsense mutation:cds:p.R798* (human)
ClinVar Annotator: match by OMIM:609054
OMIM
ClinVar
RGD
PMID:9536098 PMID:11301010 PMID:12565990 PMID:12569564 PMID:12872252 More... RGD:11251781 NCBI chr11:86,058,136...86,201,215
Ensembl chr11:86,058,138...86,201,193
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 Fanconi anemia, complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group L
ClinVar Annotator: match by OMIM:614083
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chr11:26,387,084...26,471,883
Ensembl chr11:26,386,135...26,471,876
JBrowse link
G Vrk2 vaccinia related 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 chr11:26,471,398...26,594,012
Ensembl chr11:26,471,322...26,593,999
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 Fanconi anemia, 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 chr12:65,074,110...65,131,842
Ensembl chr12:65,075,603...65,132,058
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 ClinVar Annotator: match by term: Fanconi anemia, complementation group N
ClinVar Annotator: match by OMIM:610832
OMIM
ClinVar
PMID:16793542 PMID:17200668 PMID:17200671 PMID:17200672 PMID:17287723 More... NCBI chr 7:122,107,262...122,132,980
Ensembl chr 7:122,107,262...122,132,985
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 family member 5 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr11:87,616,399...87,659,875
Ensembl chr11:87,617,164...87,659,542
JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr11:87,591,954...87,616,302
Ensembl chr11:87,592,162...87,616,302
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O
ClinVar Annotator: match by OMIM:613390
OMIM
ClinVar
PMID:9536098 PMID:12442171 PMID:12966089 PMID:14704354 PMID:15126333 More... NCBI chr11:87,376,645...87,404,954
Ensembl chr11:87,376,645...87,404,954
JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr11:87,663,087...87,735,539
Ensembl chr11:87,662,722...87,735,539
JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr11:87,566,689...87,590,543
Ensembl chr11:87,566,653...87,590,539
JBrowse link
G Tex14 testis expressed gene 14 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O ClinVar PMID:28492532 NCBI chr11:87,405,013...87,555,823
Ensembl chr11:87,405,065...87,555,823
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 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group P
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21240275 PMID:21240277 PMID:21805310 More... NCBI chr16:3,979,105...4,003,829
Ensembl chr16:3,979,105...4,003,770
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 excision repair cross-complementing rodent repair deficiency, complementation group 4 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group Q
ClinVar Annotator: match by term: Fanconi anemia, complementation group q
ClinVar Annotator: match by OMIM:615272
OMIM
ClinVar
PMID:16550608 PMID:23623386 PMID:24728327 PMID:25741868 PMID:28292785 More... NCBI chr16:13,109,366...13,152,009
Ensembl chr16:13,109,684...13,150,617
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 ClinVar Annotator: match by term: Fanconi anemia, complementation group R ClinVar
OMIM
PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 NCBI chr 2:119,112,814...119,136,073
Ensembl chr 2:119,112,793...119,147,445
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 breast cancer 1, early onset ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group S
ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S
OMIM
ClinVar
PMID:2618727 PMID:7493024 PMID:7663517 PMID:7795652 PMID:7837387 More... NCBI chr11:101,488,761...101,551,955
Ensembl chr11:101,488,764...101,551,955
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 E2T ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group t
ClinVar Annotator: match by term: Fanconi anemia, complementation group T
ClinVar
OMIM
PMID:26046368 PMID:26119737 NCBI chr 1:134,962,565...134,974,180
Ensembl chr 1:134,962,565...134,974,162
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 complementing defective repair in Chinese hamster cells 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group U OMIM
ClinVar
PMID:11118202 PMID:20189471 PMID:22232082 PMID:22464251 PMID:23054243 More... NCBI chr 5:25,689,814...25,705,797
Ensembl chr 5:25,689,812...25,705,825
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 MAD2 mitotic arrest deficient-like 2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group V ClinVar
OMIM
PMID:27500492 NCBI chr 4:148,130,158...148,145,704
Ensembl chr 4:148,130,384...148,145,699
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 ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP W
ClinVar Annotator: match by term: Fanconi anemia, complementation group W
ClinVar
OMIM
PMID:25741868 PMID:26474068 PMID:28691929 PMID:33044890 NCBI chr 8:111,270,944...111,300,222
Ensembl chr 8:111,270,944...111,300,222
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, mitochondrial ISO ClinVar Annotator: match by OMIM:617021
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
ClinVar
OMIM
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 9:123,366,927...123,462,675
Ensembl chr 9:123,366,927...123,462,666
JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 ISO ClinVar Annotator: match by term: Anemia, hypochromic microcytic, with iron overload 1 OMIM
ClinVar
PMID:15459009 PMID:16023393 PMID:16091455 PMID:16140868 PMID:16160008 More... NCBI chr15:100,387,898...100,424,209
Ensembl chr15:100,387,898...100,425,072
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 chr16:16,312,228...16,359,038
Ensembl chr16:16,312,230...16,358,959
JBrowse link
G Pus1 pseudouridine synthase 1 IEA
ISO
OMIM:500011 | OMIM:600462 | OMIM:613561
ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD Direct Evidence: marker/mechanism
MouseDO
ClinVar
CTD
PMID:28492532 NCBI chr 5:110,773,667...110,780,649
Ensembl chr 5:110,773,667...110,780,659
JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868 PMID:28492532 NCBI chr16:16,302,965...16,309,640
Ensembl chr16:16,302,965...16,309,640
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 ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 OMIM
ClinVar
PMID:7726239 PMID:14981724 PMID:15108122 PMID:15971356 PMID:17056637 More... NCBI chr 5:110,773,667...110,780,649
Ensembl chr 5:110,773,667...110,780,659
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 chr16:16,312,228...16,359,038
Ensembl chr16:16,312,230...16,358,959
JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 OMIM
ClinVar
PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 More... NCBI chr16:16,302,965...16,309,640
Ensembl chr16:16,302,965...16,309,640
JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3 ClinVar PMID:25037980 PMID:27812026 PMID:29350304 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607
JBrowse link
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
sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:16892088 PMID:18637800 PMID:18398482 RGD:11038732 NCBI chr  X:104,280,565...104,413,846
Ensembl chr  X:104,280,657...104,413,856
JBrowse link
G Alad aminolevulinate, delta-, dehydratase IDA protein:decreased activity:kidney, liver, spleen RGD PMID:5891055 RGD:12904678 NCBI chr 4:62,505,984...62,520,063
Ensembl chr 4:62,509,169...62,519,918
JBrowse link
G Alas2 aminolevulinic acid synthase 2, erythroid susceptibility ISO DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16716198 PMID:16892088 PMID:7949148 RGD:1599037 NCBI chr  X:150,547,417...150,570,622
Ensembl chr  X:150,547,375...150,570,638
JBrowse link
G Calr calreticulin ISO DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) RGD PMID:24325359 RGD:11352763 NCBI chr 8:84,842,088...84,846,931
Ensembl chr 8:84,841,850...84,846,934
JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19036111 NCBI chr 8:70,629,393...70,632,470
Ensembl chr 8:70,629,393...70,632,456
JBrowse link
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18637800 NCBI chr12:105,032,618...105,040,911
Ensembl chr12:105,032,688...105,042,906
JBrowse link
G Hspa9 heat shock protein 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:34,937,414...34,954,351
Ensembl chr18:34,937,414...34,954,357
JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: Sideroblastic anemia, acquired idiopathic ClinVar PMID:9389715 NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412178 NCBI chr 9:120,110,377...120,126,093
Ensembl chr 9:120,110,374...120,124,504
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:16910769 PMID:21326867 NCBI chr17:13,007,839...13,018,119
Ensembl chr17:13,006,846...13,040,063
JBrowse link
G Tfrc transferrin receptor IEP mRNA,protein:increased expression:erythroblast: RGD PMID:21326867 RGD:11062136 NCBI chr16:32,608,896...32,632,794
Ensembl chr16:32,608,920...32,632,794
JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 aminolevulinic acid synthase 2, erythroid onset ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1
ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory
ClinVar Annotator: match by term: Hereditary sideroblastic anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)
ClinVar Annotator: match by OMIM:300751
OMIM
ClinVar
CTD
RGD
PMID:1570328 PMID:7705839 PMID:7949148 PMID:8107717 PMID:9226183 More... RGD:11035244, RGD:11035243, RGD:11035241 NCBI chr  X:150,547,417...150,570,622
Ensembl chr  X:150,547,375...150,570,638
JBrowse link
G Apex2 apurinic/apyrimidinic endonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:150,426,974...150,588,206
Ensembl chr  X:150,519,519...150,589,868
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 1 ClinVar PMID:28492532 NCBI chr 9:120,110,377...120,126,093
Ensembl chr 9:120,110,374...120,124,504
JBrowse link
Sideroblastic Anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hscb HscB iron-sulfur cluster co-chaperone ISO ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 5 OMIM
ClinVar
PMID:32634119 NCBI chr 5:110,829,070...110,839,793
Ensembl chr 5:110,829,070...110,839,777
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, CCA-adding, 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay
ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
ClinVar
OMIM
PMID:2649490 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 6:106,769,138...106,782,474
Ensembl chr 6:106,769,120...106,782,474
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, sub-family B (MDR/TAP), member 7 susceptibility ISO DNA:missense mutation: :p.I400M (human)
ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar Annotator: match by term: Anemia sideroblastic and spinocerebellar ataxia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:301310
DNA:missense mutation:exon:p.V411L (1299G>C) (human)
DNA:missense mutation:exon:p.E433K (1305G>A) (human)
ClinVar
CTD
OMIM
RGD
PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11843825 More... RGD:1598600, RGD:11038735, RGD:11038734 NCBI chr  X:104,280,565...104,413,846
Ensembl chr  X:104,280,657...104,413,856
JBrowse link
G Alas2 aminolevulinic acid synthase 2, erythroid ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar NCBI chr  X:150,547,417...150,570,622
Ensembl chr  X:150,547,375...150,570,638
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic ClinVar NCBI chr 9:120,110,377...120,126,093
Ensembl chr 9:120,110,374...120,124,504
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14537
    disease of anatomical entity 14137
      hematopoietic system disease 1836
        anemia 435
          aplastic anemia 167
            Aplastic Anemia, Idiopathic 0
            Bone Marrow Failure Syndrome 1 1
            WT Limb Blood Syndrome 0
            congenital hypoplastic anemia + 119
            myelophthisic anemia 0
            pure red-cell aplasia + 72
            sideroblastic anemia + 21
Path 2
Term Annotations click to browse term
  disease 14537
    disease of anatomical entity 14137
      Hemic and Lymphatic Diseases 2248
        hematopoietic system disease 1836
          bone marrow disease 601
            Bone Marrow Failure Disorders 179
              aplastic anemia 167
                Aplastic Anemia, Idiopathic 0
                Bone Marrow Failure Syndrome 1 1
                WT Limb Blood Syndrome 0
                congenital hypoplastic anemia + 119
                myelophthisic anemia 0
                pure red-cell aplasia + 72
                sideroblastic anemia + 21
paths to the root