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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:congenital hypoplastic anemia
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Accession:DOID:1342 term browser browse the term
Definition:An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life. (DO)
Synonyms:exact_synonym: congenital aplastic anaemia;   congenital aplastic anemia;   congenital hypoplastic anaemia;   congenital hypoplastic anemias
 related_synonym: constitutional aplastic anaemia
 primary_id: MESH:D029502
 xref: ICD10CM:D61.0;   ICD10CM:D61.01;   ICD9CM:284.0
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
congenital hypoplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:590,202...596,846
Ensembl chrNW_004955578:591,129...595,427 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:950,258...1,004,438
Ensembl chrNW_004955578:967,593...1,004,438 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:941,539...961,407 JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:869,508...892,510
Ensembl chrNW_004955555:869,325...893,542 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:189,445...218,509
Ensembl chrNW_004955555:189,174...218,565 		JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:357,726...359,695
Ensembl chrNW_004955555:357,726...359,695 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:288,919...295,861
Ensembl chrNW_004955555:288,919...295,860 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799 		JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:813,834...834,675
Ensembl chrNW_004955578:813,480...838,151 		JBrowse link
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 Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:255,906...269,432
Ensembl chrNW_004955555:257,127...269,432 		JBrowse link
G Ccnp cyclin P ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:1,009,159...1,013,368 JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:961,522...965,605
Ensembl chrNW_004955555:961,522...965,605 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:613,549...641,587
Ensembl chrNW_004955555:613,665...638,369 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:541,648...543,878
Ensembl chrNW_004955555:541,708...543,878 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:615,820...635,488
Ensembl chrNW_004955578:615,381...635,488 		JBrowse link
G CUNH19orf47 chromosome unknown C19orf47 homolog ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:905,540...925,570
Ensembl chrNW_004955578:905,661...925,570 		JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:684,523...701,915
Ensembl chrNW_004955555:684,523...701,915 		JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20054847 PMID:25741868 PMID:28492532 NCBI chrNW_004955423:1,651,562...1,748,651
Ensembl chrNW_004955423:1,710,257...1,748,651 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955468:70,714...78,831
Ensembl chrNW_004955468:71,004...78,827 		JBrowse link
G Dmac2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:362,287...370,276
Ensembl chrNW_004955555:362,287...370,276 		JBrowse link
G Dmrtc2 DMRT like family C2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:983,451...989,044
Ensembl chrNW_004955555:983,272...988,950 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:1,187,128...1,195,574
Ensembl chrNW_004955578:1,187,742...1,195,574 		JBrowse link
G Egln2 egl-9 family hypoxia inducible factor 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:541,723...557,609
Ensembl chrNW_004955578:548,578...557,609 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955468:29,927...32,947
Ensembl chrNW_004955468:30,076...31,387 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955468:48,573...50,029 JBrowse link
G Erf ETS2 repressor factor ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:654,945...661,097
Ensembl chrNW_004955555:654,414...665,277 		JBrowse link
G Erich4 glutamate rich 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:369,918...373,848
Ensembl chrNW_004955555:372,339...373,848 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:328,130...334,106
Ensembl chrNW_004955555:326,698...334,106 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:1,176,713...1,186,873
Ensembl chrNW_004955578:1,176,713...1,186,873 		JBrowse link
G Fcgbp Fc gamma binding protein ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:1,131,446...1,169,440 JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:871527 PMID:3164080 PMID:12200364 PMID:14691578 PMID:15895080 More... NCBI chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061 		JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:804,907...865,395
Ensembl chrNW_004955555:812,928...864,874 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:668,641...676,351
Ensembl chrNW_004955555:667,973...676,351 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:876,022...884,098
Ensembl chrNW_004955578:876,030...884,098 		JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U like 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:219,185...254,979
Ensembl chrNW_004955555:220,450...257,631 		JBrowse link
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955420:11,960,778...11,997,807
Ensembl chrNW_004955420:11,963,159...11,997,531 		JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:597,105...614,081
Ensembl chrNW_004955578:598,351...614,081 		JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:511,085...531,165
Ensembl chrNW_004955555:514,410...530,759 		JBrowse link
G LOC102004212 cytochrome P450 2F3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:530,094...541,951
Ensembl chrNW_004955578:531,353...541,684 		JBrowse link
G LOC102010839 cytochrome P450 2S1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:167,634...183,572
Ensembl chrNW_004955555:168,139...182,196 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:685,960...712,809
Ensembl chrNW_004955578:686,211...712,794 		JBrowse link
G Lypd4 LY6/PLAUR domain containing 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:989,234...994,901
Ensembl chrNW_004955555:989,941...994,950 		JBrowse link
G Map3k10 mitogen-activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:1,018,280...1,037,553
Ensembl chrNW_004955578:1,018,560...1,036,901 		JBrowse link
G Megf8 multiple EGF like domains 8 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:549,921...591,978
Ensembl chrNW_004955555:548,416...591,978 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:570,142...572,959
Ensembl chrNW_004955578:570,142...572,938 		JBrowse link
G Numbl NUMB like endocytic adaptor protein ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:636,298...661,566
Ensembl chrNW_004955578:636,282...661,566 		JBrowse link
G Pafah1b3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:609,925...612,701
Ensembl chrNW_004955555:609,925...612,701 		JBrowse link
G Pld3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:884,700...905,426
Ensembl chrNW_004955578:884,700...894,433 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955468:138,262...149,480
Ensembl chrNW_004955468:138,542...149,686 		JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:759,308...793,500
Ensembl chrNW_004955555:759,308...793,485 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:605,333...610,104
Ensembl chrNW_004955555:605,333...610,058 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:852,789...873,319
Ensembl chrNW_004955578:868,534...874,168 		JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:1,113,445...1,120,050
Ensembl chrNW_004955578:1,113,445...1,120,370 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:559,029...568,966
Ensembl chrNW_004955578:559,029...568,966 		JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:897,927...900,406
Ensembl chrNW_004955555:897,846...902,636 		JBrowse link
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955452:3,626,609...3,630,911
Ensembl chrNW_004955452:3,626,609...3,633,209 		JBrowse link
G Rpl19 ribosomal protein L19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955451:14,062,058...14,066,664
Ensembl chrNW_004955451:14,062,058...14,068,814 		JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955467:8,519,760...8,525,514
Ensembl chrNW_004955467:8,519,760...8,527,182 		JBrowse link
G Rpl35a ribosomal protein L35a ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955420:11,957,070...11,960,713
Ensembl chrNW_004955420:11,957,070...11,960,713 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20054847 PMID:25741868 PMID:28492532 NCBI chrNW_004955423:1,748,809...1,758,622
Ensembl chrNW_004955423:1,748,809...1,758,622 		JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20116044 PMID:25741868 PMID:28492532 NCBI chrNW_004955437:2,600,219...2,604,821
Ensembl chrNW_004955437:2,600,246...2,604,022 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955468:130,244...132,258
Ensembl chrNW_004955468:130,244...132,258 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:9988267 PMID:10590074 PMID:10753603 PMID:12586610 PMID:12750732 More... NCBI chrNW_004955555:969,345...976,122
Ensembl chrNW_004955555:969,340...976,509 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 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: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955487:3,793,168...3,798,007
Ensembl chrNW_004955487:3,792,870...3,798,153 		JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955468:60,744...66,688 JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:848,920...852,193
Ensembl chrNW_004955578:848,486...852,557 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:837,686...841,561
Ensembl chrNW_004955578:837,686...841,561 		JBrowse link
G Shkbp1 SH3KBP1 binding protein 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:716,818...730,593
Ensembl chrNW_004955578:716,632...730,593 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:579,087...590,010
Ensembl chrNW_004955578:579,087...590,010 		JBrowse link
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:730,916...813,740
Ensembl chrNW_004955578:731,814...810,065 		JBrowse link
G Supt5h SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955468:95,997...123,005
Ensembl chrNW_004955468:95,181...123,147 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955468:85,681...94,300
Ensembl chrNW_004955468:83,679...95,113 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:592,685...602,950
Ensembl chrNW_004955555:592,940...602,902 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:322,899...326,450
Ensembl chrNW_004955555:322,783...326,599 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955578:1,014,670...1,018,120
Ensembl chrNW_004955578:1,015,124...1,018,135 		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
G Znf526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:678,735...682,967
Ensembl chrNW_004955555:678,735...682,967 		JBrowse link
G Znf574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004955555:798,779...804,608
Ensembl chrNW_004955555:798,779...804,608 		JBrowse link
Diamond-Blackfan anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:590,202...596,846
Ensembl chrNW_004955578:591,129...595,427 		JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:950,258...1,004,438
Ensembl chrNW_004955578:967,593...1,004,438 		JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... 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:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:8,896,740...8,906,032
Ensembl chrNW_004955467:8,895,095...8,906,009 		JBrowse link
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:8,844,805...8,869,230
Ensembl chrNW_004955467:8,844,805...8,869,964 		JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:941,539...961,407 JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chrNW_004955467:8,590,217...8,603,778
Ensembl chrNW_004955467:8,587,873...8,602,747 		JBrowse link
G Asap3 ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,437,240...3,480,472
Ensembl chrNW_004955452:3,438,495...3,480,539 		JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:869,508...892,510
Ensembl chrNW_004955555:869,325...893,542 		JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:8,715,387...8,720,889
Ensembl chrNW_004955467:8,715,136...8,723,932 		JBrowse link
G Axl AXL receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:189,445...218,509
Ensembl chrNW_004955555:189,174...218,565 		JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:357,726...359,695
Ensembl chrNW_004955555:357,726...359,695 		JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:288,919...295,861
Ensembl chrNW_004955555:288,919...295,860 		JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:334,253...357,417
Ensembl chrNW_004955555:333,642...358,799 		JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:813,834...834,675
Ensembl chrNW_004955578:813,480...838,151 		JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:8,766,322...8,769,169 JBrowse link
G Brdt bromodomain testis associated ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955423:2,434,146...2,498,523
Ensembl chrNW_004955423:2,431,192...2,494,906 		JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:255,906...269,432
Ensembl chrNW_004955555:257,127...269,432 		JBrowse link
G Ccnp cyclin P ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:1,009,159...1,013,368 JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:961,522...965,605
Ensembl chrNW_004955555:961,522...965,605 		JBrowse link
G Cdc7 cell division cycle 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955423:2,902,352...2,923,743
Ensembl chrNW_004955423:2,902,048...2,924,573 		JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:9,024,112...9,050,062
Ensembl chrNW_004955467:9,029,265...9,050,718 		JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:613,549...641,587
Ensembl chrNW_004955555:613,665...638,369 		JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:541,648...543,878
Ensembl chrNW_004955555:541,708...543,878 		JBrowse link
G Cnr2 cannabinoid receptor 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,763,742...3,795,069
Ensembl chrNW_004955452:3,763,742...3,795,069 		JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:8,993,528...9,010,829
Ensembl chrNW_004955467:8,993,952...9,009,928 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:615,820...635,488
Ensembl chrNW_004955578:615,381...635,488 		JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chrNW_004955467:8,673,069...8,700,730
Ensembl chrNW_004955467:8,673,128...8,702,165 		JBrowse link
G CUNH19orf47 chromosome unknown C19orf47 homolog ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:905,540...925,570
Ensembl chrNW_004955578:905,661...925,570 		JBrowse link
G CUNH1orf146 chromosome unknown C1orf146 homolog ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955423:2,233,445...2,251,205
Ensembl chrNW_004955423:2,233,543...2,258,941 		JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:684,523...701,915
Ensembl chrNW_004955555:684,523...701,915 		JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 More... NCBI chrNW_004955423:1,651,562...1,748,651
Ensembl chrNW_004955423:1,710,257...1,748,651 		JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955468:70,714...78,831
Ensembl chrNW_004955468:71,004...78,827 		JBrowse link
G Dmac2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:362,287...370,276
Ensembl chrNW_004955555:362,287...370,276 		JBrowse link
G Dmrtc2 DMRT like family C2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:983,451...989,044
Ensembl chrNW_004955555:983,272...988,950 		JBrowse link
G Dnah2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:9,107,089...9,210,941
Ensembl chrNW_004955467:9,107,295...9,210,941 		JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:1,187,128...1,195,574
Ensembl chrNW_004955578:1,187,742...1,195,574 		JBrowse link
G E2f2 E2F transcription factor 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,498,077...3,518,033
Ensembl chrNW_004955452:3,494,919...3,518,487 		JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:9,217,796...9,225,223
Ensembl chrNW_004955467:9,217,796...9,224,940 		JBrowse link
G Egln2 egl-9 family hypoxia inducible factor 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:541,723...557,609
Ensembl chrNW_004955578:548,578...557,609 		JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955468:29,927...32,947
Ensembl chrNW_004955468:30,076...31,387 		JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955468:48,573...50,029 JBrowse link
G Eloa elongin A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,668,868...3,681,506
Ensembl chrNW_004955452:3,668,864...3,681,481 		JBrowse link
G Ephx4 epoxide hydrolase 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955423:2,389,745...2,425,036
Ensembl chrNW_004955423:2,386,888...2,425,036 		JBrowse link
G Erf ETS2 repressor factor ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:654,945...661,097
Ensembl chrNW_004955555:654,414...665,277 		JBrowse link
G Erich4 glutamate rich 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:369,918...373,848
Ensembl chrNW_004955555:372,339...373,848 		JBrowse link
G Evi5 ecotropic viral integration site 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955423:1,784,255...1,997,561
Ensembl chrNW_004955423:1,784,264...1,997,561 		JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:328,130...334,106
Ensembl chrNW_004955555:326,698...334,106 		JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:1,176,713...1,186,873
Ensembl chrNW_004955578:1,176,713...1,186,873 		JBrowse link
G Fcgbp Fc gamma binding protein ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:1,131,446...1,169,440 JBrowse link
G Flvcr1 FLVCR choline and heme transporter 1 ISO 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 chrNW_004955406:4,673,797...4,702,858
Ensembl chrNW_004955406:4,674,140...4,702,763 		JBrowse link
G Fuca1 alpha-L-fucosidase 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,744,071...3,759,776
Ensembl chrNW_004955452:3,744,755...3,759,676 		JBrowse link
G Gale UDP-galactose-4-epimerase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,715,107...3,719,288
Ensembl chrNW_004955452:3,713,080...3,718,425 		JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:871527 PMID:3164080 PMID:8628290 PMID:9536098 PMID:11566888 More... NCBI chrNW_004955543:334,581...342,042
Ensembl chrNW_004955543:334,061...342,061 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955423:2,024,084...2,032,530
Ensembl chrNW_004955423:2,022,417...2,033,149 		JBrowse link
G Glmn glomulin, FKBP associated protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955423:2,195,428...2,233,389
Ensembl chrNW_004955423:2,195,423...2,232,706 		JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chrNW_004955543:320,087...321,311
Ensembl chrNW_004955543:319,985...323,393 		JBrowse link
G Grhl3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:4,125,792...4,159,699
Ensembl chrNW_004955452:4,128,269...4,160,683 		JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:804,907...865,395
Ensembl chrNW_004955555:812,928...864,874 		JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:668,641...676,351
Ensembl chrNW_004955555:667,973...676,351 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:8,938,057...8,949,684
Ensembl chrNW_004955467:8,938,057...8,949,684 		JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:35213692 NCBI chrNW_004955433:8,183,701...8,224,117
Ensembl chrNW_004955433:8,183,395...8,224,117 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:8,837,895...8,841,062
Ensembl chrNW_004955467:8,837,886...8,841,739 		JBrowse link
G Hfm1 helicase for meiosis 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955423:2,993,723...3,088,391
Ensembl chrNW_004955423:2,993,682...3,089,024 		JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:876,022...884,098
Ensembl chrNW_004955578:876,030...884,098 		JBrowse link
G Hmgcl 3-hydroxy-3-methylglutaryl-CoA lyase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,720,103...3,734,730
Ensembl chrNW_004955452:3,720,103...3,735,192 		JBrowse link
G Hnrnpr heterogeneous nuclear ribonucleoprotein R ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,318,536...3,354,725
Ensembl chrNW_004955452:3,315,133...3,355,508 		JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U like 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:219,185...254,979
Ensembl chrNW_004955555:220,450...257,631 		JBrowse link
G Htr1d 5-hydroxytryptamine receptor 1D ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,207,950...3,228,867 JBrowse link
G Id3 inhibitor of DNA binding 3, HLH protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,537,352...3,538,921
Ensembl chrNW_004955452:3,537,021...3,560,954 		JBrowse link
G Ifnlr1 interferon lambda receptor 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:4,002,389...4,028,193
Ensembl chrNW_004955452:4,003,244...4,028,189 		JBrowse link
G Il22ra1 interleukin 22 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,975,597...3,992,809
Ensembl chrNW_004955452:3,972,946...3,992,815 		JBrowse link
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 More... NCBI chrNW_004955420:11,960,778...11,997,807
Ensembl chrNW_004955420:11,963,159...11,997,531 		JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:597,105...614,081
Ensembl chrNW_004955578:598,351...614,081 		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:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:9,013,279...9,020,716
Ensembl chrNW_004955467:9,013,279...9,020,716 		JBrowse link
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,044,042...3,104,650
Ensembl chrNW_004955452:3,044,264...3,104,418 		JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:9,085,239...9,106,658
Ensembl chrNW_004955467:9,086,204...9,094,404 		JBrowse link
G Klf1 KLF transcription 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 Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:511,085...531,165
Ensembl chrNW_004955555:514,410...530,759 		JBrowse link
G LOC102004212 cytochrome P450 2F3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:530,094...541,951
Ensembl chrNW_004955578:531,353...541,684 		JBrowse link
G LOC102010839 cytochrome P450 2S1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:167,634...183,572
Ensembl chrNW_004955555:168,139...182,196 		JBrowse link
G LOC102029382 cytochrome b5 domain-containing protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:9,077,537...9,081,759
Ensembl chrNW_004955467:9,077,537...9,081,759 		JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:685,960...712,809
Ensembl chrNW_004955578:686,211...712,794 		JBrowse link
G Luzp1 leucine zipper protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,105,827...3,188,762
Ensembl chrNW_004955452:3,109,663...3,189,416 		JBrowse link
G Lypd4 LY6/PLAUR domain containing 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:989,234...994,901
Ensembl chrNW_004955555:989,941...994,950 		JBrowse link
G Lypla2 lysophospholipase 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,710,818...3,715,047
Ensembl chrNW_004955452:3,710,818...3,715,047 		JBrowse link
G Map3k10 mitogen-activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:1,018,280...1,037,553
Ensembl chrNW_004955578:1,018,560...1,036,901 		JBrowse link
G Megf8 multiple EGF like domains 8 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:549,921...591,978
Ensembl chrNW_004955555:548,416...591,978 		JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:570,142...572,959
Ensembl chrNW_004955578:570,142...572,938 		JBrowse link
G Myom3 myomesin 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,925,373...3,968,721
Ensembl chrNW_004955452:3,925,613...3,965,788 		JBrowse link
G Naa38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:9,082,104...9,083,024
Ensembl chrNW_004955467:9,082,244...9,082,977 		JBrowse link
G Numbl NUMB like endocytic adaptor protein ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:636,298...661,566
Ensembl chrNW_004955578:636,282...661,566 		JBrowse link
G Odf4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chrNW_004955467:8,556,722...8,570,624 JBrowse link
G Pafah1b3 platelet activating factor acetylhydrolase 1b catalytic subunit 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:609,925...612,701
Ensembl chrNW_004955555:609,925...612,701 		JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... 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:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chrNW_004955467:8,640,044...8,660,950
Ensembl chrNW_004955467:8,640,044...8,660,979 		JBrowse link
G Pithd1 PITH domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,696,632...3,708,166
Ensembl chrNW_004955452:3,696,632...3,708,166 		JBrowse link
G Pld3 phospholipase D family member 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:884,700...905,426
Ensembl chrNW_004955578:884,700...894,433 		JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955468:138,262...149,480
Ensembl chrNW_004955468:138,542...149,686 		JBrowse link
G Pnrc2 proline rich nuclear receptor coactivator 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,826,337...3,829,896 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 Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:759,308...793,500
Ensembl chrNW_004955555:759,308...793,485 		JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:605,333...610,104
Ensembl chrNW_004955555:605,333...610,058 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:852,789...873,319
Ensembl chrNW_004955578:868,534...874,168 		JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:1,113,445...1,120,050
Ensembl chrNW_004955578:1,113,445...1,120,370 		JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:559,029...568,966
Ensembl chrNW_004955578:559,029...568,966 		JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:897,927...900,406
Ensembl chrNW_004955555:897,846...902,636 		JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chrNW_004955467:8,622,843...8,624,401
Ensembl chrNW_004955467:8,622,843...8,624,401 		JBrowse link
G Rpap2 RNA polymerase II associated protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955423:2,062,163...2,195,351
Ensembl chrNW_004955423:2,101,780...2,195,390 		JBrowse link
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More... NCBI chrNW_004955452:3,626,609...3,630,911
Ensembl chrNW_004955452:3,626,609...3,633,209 		JBrowse link
G Rpl19 ribosomal protein L19 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955451:14,062,058...14,066,664
Ensembl chrNW_004955451:14,062,058...14,068,814 		JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:17576681 PMID:20522432 PMID:21056402 PMID:22267198 More... NCBI chrNW_004955467:8,519,760...8,525,514
Ensembl chrNW_004955467:8,519,760...8,527,182 		JBrowse link
G Rpl35a ribosomal protein L35a ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 More... NCBI chrNW_004955420:11,957,070...11,960,713
Ensembl chrNW_004955420:11,957,070...11,960,713 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 More... NCBI chrNW_004955423:1,748,809...1,758,622
Ensembl chrNW_004955423:1,748,809...1,758,622 		JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:20159986 More... NCBI chrNW_004955437:2,600,219...2,604,821
Ensembl chrNW_004955437:2,600,246...2,604,022 		JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955468:130,244...132,258
Ensembl chrNW_004955468:130,244...132,258 		JBrowse link
G Rps17 ribosomal protein S17 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:17647292 PMID:19953637 PMID:25741868 NCBI chrNW_004955416:14,039,596...14,042,908
Ensembl chrNW_004955416:14,039,596...14,042,908 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 More... 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
Ensembl chrNW_004955454:15,151,065...15,152,301 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:9536098 PMID:17186470 PMID:17576681 PMID:19689926 PMID:20960466 More... NCBI chrNW_004955437:14,435,822...14,442,662
Ensembl chrNW_004955437:14,434,771...14,443,106 		JBrowse link
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19816270 PMID:20116044 PMID:22381658 PMID:23718193 PMID:24675553 More... NCBI chrNW_004955458:3,632,675...3,634,565
Ensembl chrNW_004955458:3,632,699...3,634,566 		JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:26136524 PMID:28492532 NCBI chrNW_004955487:3,793,168...3,798,007
Ensembl chrNW_004955487:3,792,870...3,798,153 		JBrowse link
G Rpsa ribosomal protein SA ISO 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 chrNW_004955420:29,978,160...29,983,544 JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955468:60,744...66,688 JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:848,920...852,193
Ensembl chrNW_004955578:848,486...852,557 		JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:837,686...841,561
Ensembl chrNW_004955578:837,686...841,561 		JBrowse link
G Shkbp1 SH3KBP1 binding protein 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:716,818...730,593
Ensembl chrNW_004955578:716,632...730,593 		JBrowse link
G Slc25a35 solute carrier family 25 member 35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chrNW_004955467:8,618,572...8,628,857
Ensembl chrNW_004955467:8,618,579...8,622,870 		JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:579,087...590,010
Ensembl chrNW_004955578:579,087...590,010 		JBrowse link
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:730,916...813,740
Ensembl chrNW_004955578:731,814...810,065 		JBrowse link
G Srsf10 serine and arginine rich splicing factor 10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,831,545...3,846,292
Ensembl chrNW_004955452:3,831,552...3,846,449 		JBrowse link
G Supt5h SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955468:95,997...123,005
Ensembl chrNW_004955468:95,181...123,147 		JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chrNW_004955543:258,479...271,128
Ensembl chrNW_004955543:258,479...272,473 		JBrowse link
G Tcea3 transcription elongation factor A3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,384,424...3,434,182 JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441 		JBrowse link
G Tgfbr3 transforming growth factor beta receptor 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004955423:2,573,851...2,765,353
Ensembl chrNW_004955423:2,573,795...2,765,772 		JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955468:85,681...94,300
Ensembl chrNW_004955468:83,679...95,113 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:8,777,078...8,779,164
Ensembl chrNW_004955467:8,777,071...8,779,164 		JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:592,685...602,950
Ensembl chrNW_004955555:592,940...602,902 		JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:9,083,623...9,084,834
Ensembl chrNW_004955467:9,083,623...9,084,834 		JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:322,899...326,450
Ensembl chrNW_004955555:322,783...326,599 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... 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:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:9,010,936...9,012,796
Ensembl chrNW_004955467:9,011,138...9,012,796 		JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955578:1,014,670...1,018,120
Ensembl chrNW_004955578:1,015,124...1,018,135 		JBrowse link
G Vamp2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:8,793,296...8,796,771
Ensembl 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:16783379 PMID:22706301 PMID:23704091 PMID:24453067 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:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chrNW_004955467:9,225,506...9,240,756 JBrowse link
G Znf436 zinc finger protein 436 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chrNW_004955452:3,364,768...3,374,887 JBrowse link
G Znf526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:678,735...682,967
Ensembl chrNW_004955555:678,735...682,967 		JBrowse link
G Znf574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chrNW_004955555:798,779...804,608
Ensembl chrNW_004955555:798,779...804,608 		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:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chrNW_004955423:1,651,562...1,748,651
Ensembl chrNW_004955423:1,710,257...1,748,651 		JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:25741868 PMID:35213692 NCBI chrNW_004955433:8,183,701...8,224,117
Ensembl chrNW_004955433:8,183,395...8,224,117 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chrNW_004955423:1,748,809...1,758,622
Ensembl chrNW_004955423:1,748,809...1,758,622 		JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 OMIM
ClinVar		 PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 More... 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:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:23812780 More... 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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 | ClinVar Annotator: match by term: RPS26-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 More... NCBI chrNW_004955458:3,632,675...3,634,565
Ensembl chrNW_004955458:3,632,699...3,634,566 		JBrowse link
G Suox sulfite oxidase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:28492532 NCBI chrNW_004955458:3,584,390...3,589,764
Ensembl chrNW_004955458:3,585,482...3,590,559 		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 term: Diamond-Blackfan anemia 11 OMIM
ClinVar		 PMID:22431104 PMID:25741868 PMID:28492532 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 Annotator: match by term: RPL15-related condition ClinVar PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205 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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition OMIM
ClinVar		 PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205 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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 | ClinVar Annotator: match by term: RPS29-related condition OMIM
ClinVar		 PMID:24829207 PMID:25741868 PMID:28492532 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 Fgd1 FYVE, RhoGEF and PH domain containing 1 ISO ClinVar Annotator: match by term: TSR2-related condition ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004955475:1,703,374...1,752,710
Ensembl chrNW_004955475:1,703,374...1,752,710 		JBrowse link
G Tsr2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis | ClinVar Annotator: match by term: TSR2-related condition OMIM
ClinVar		 PMID:11424144 PMID:24033266 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chrNW_004955475:1,698,926...1,703,404
Ensembl chrNW_004955475:1,698,136...1,703,404 		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:24675553 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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis | ClinVar Annotator: match by term: RPS28-related condition OMIM
ClinVar		 PMID:24942156 PMID:25741868 PMID:28492532 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 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 Annotator: match by term: RPL27-related condition OMIM
ClinVar		 PMID:25424902 PMID:25741868 PMID:28492532 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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 | ClinVar Annotator: match by term: RPS27-related condition OMIM
ClinVar		 PMID:25424902 PMID:25741868 PMID:28492532 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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 18 | ClinVar Annotator: match by term: RPL18-related condition OMIM
ClinVar		 PMID:25741868 PMID:28280134 PMID:28492532 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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 | ClinVar Annotator: match by term: RPL35-related condition OMIM
ClinVar		 PMID:28280134 PMID:28492532 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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 20 OMIM
ClinVar		 PMID:27909223 NCBI chrNW_004955442:2,530,838...2,535,421
Ensembl chrNW_004955442:2,530,838...2,535,421 		JBrowse link
Diamond-Blackfan Anemia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 21 OMIM
ClinVar		 PMID:25741868 PMID:35213692 NCBI chrNW_004955433:8,183,701...8,224,117
Ensembl chrNW_004955433:8,183,395...8,224,117 		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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 | ClinVar Annotator: match by term: RPS24-related condition OMIM
ClinVar		 PMID:9536098 PMID:17186470 PMID:17576681 PMID:20960466 PMID:23812780 More... 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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 4 OMIM
ClinVar		 PMID:17647292 PMID:19953637 PMID:23718193 PMID:23812780 PMID:25741868 NCBI chrNW_004955416:14,039,596...14,042,908
Ensembl 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 Fyttd1 forty-two-three domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chrNW_004955420:12,095,055...12,123,900 JBrowse link
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More... NCBI chrNW_004955420:11,960,778...11,997,807
Ensembl chrNW_004955420:11,963,159...11,997,531 		JBrowse link
G Lrch3 leucine rich repeats and calponin homology domain containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chrNW_004955420:11,998,567...12,086,872
Ensembl chrNW_004955420:12,001,120...12,086,799 		JBrowse link
G Rpl35a ribosomal protein L35a ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More... NCBI chrNW_004955420:11,957,070...11,960,713
Ensembl chrNW_004955420:11,957,070...11,960,713 		JBrowse link
G Rubcn rubicon autophagy regulator ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532 NCBI chrNW_004955420:12,124,193...12,187,154
Ensembl chrNW_004955420:12,123,450...12,187,154 		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: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 ClinVar PMID:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 More... NCBI 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: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 OMIM
ClinVar		 PMID:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 More... NCBI chrNW_004955423:1,748,809...1,758,622
Ensembl 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 ClinVar Annotator: match by term: Diamond-Blackfan anemia 7 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More... 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 Adi1 acireductone dioxygenase 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chrNW_004955487:3,816,428...3,822,663
Ensembl chrNW_004955487:3,816,428...3,822,663 		JBrowse link
G Colec11 collectin subfamily member 11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chrNW_004955487:3,778,901...3,789,852
Ensembl chrNW_004955487:3,778,858...3,790,080 		JBrowse link
G Rnaseh1 ribonuclease H1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chrNW_004955487:3,808,426...3,815,682
Ensembl chrNW_004955487:3,808,419...3,815,682 		JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 | ClinVar Annotator: match by term: RPS7-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:23718193 More... NCBI chrNW_004955487:3,793,168...3,798,007
Ensembl chrNW_004955487:3,792,870...3,798,153 		JBrowse link
G Trappc12 trafficking protein particle complex subunit 12 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chrNW_004955487:3,824,872...3,863,859
Ensembl chrNW_004955487:3,824,872...3,864,331 		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 OMIM
ClinVar		 PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chrNW_004955437:2,600,219...2,604,821
Ensembl chrNW_004955437:2,600,246...2,604,022 		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 OMIM
ClinVar		 PMID:28283061 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 PMID:28492532 PMID:29681510 PMID:34162668 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 Ace2 angiotensin converting enzyme 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,591,229...2,643,705
Ensembl chrNW_004955519:2,591,248...2,633,495 		JBrowse link
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,837,487...2,876,220
Ensembl chrNW_004955541:2,837,448...2,876,316 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,921,230...3,033,612
Ensembl chrNW_004955541:2,919,631...2,961,445 		JBrowse link
G Aopep aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 ClinVar PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More... NCBI chrNW_004955422:21,680,488...22,020,935 JBrowse link
G Ap1s2 adaptor related protein complex 1 subunit sigma 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,351,754...2,370,650 JBrowse link
G Aprt adenine phosphoribosyltransferase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,687,938...2,690,906
Ensembl chrNW_004955541:2,687,938...2,690,906 		JBrowse link
G Asb11 ankyrin repeat and SOCS box containing 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,875,287...2,896,122
Ensembl chrNW_004955519:2,875,212...2,896,191 		JBrowse link
G Asb9 ankyrin repeat and SOCS box containing 9 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,902,802...2,941,358
Ensembl chrNW_004955519:2,902,802...2,941,433 		JBrowse link
G Banp BTG3 associated nuclear protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,169,303...2,256,779
Ensembl chrNW_004955541:2,169,303...2,256,779 		JBrowse link
G Bmx BMX non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,638,081...2,689,601
Ensembl chrNW_004955519:2,638,081...2,689,650 		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 DNA helicase 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:2455662 PMID:3375802 PMID:11301010 PMID:14983014 PMID:16116421 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:17436244 PMID:28492532 NCBI chrNW_004955561:1,545,921...1,554,423
Ensembl chrNW_004955561:1,545,576...1,554,618 		JBrowse link
G Ca5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,141,450...2,159,955
Ensembl chrNW_004955541:2,139,920...2,160,597 		JBrowse link
G Ca5b carbonic anhydrase 5B ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,415,722...2,455,052
Ensembl chrNW_004955519:2,412,289...2,455,280 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,724,369...2,777,540
Ensembl chrNW_004955541:2,724,312...2,777,592 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,881,374...2,893,885
Ensembl chrNW_004955541:2,881,525...2,893,653 		JBrowse link
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chrNW_004955541:3,235,441...3,242,377
Ensembl chrNW_004955541:3,235,448...3,242,377 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,683,030...2,687,883
Ensembl chrNW_004955541:2,683,408...2,687,102 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:3,216,972...3,223,636
Ensembl chrNW_004955541:3,216,972...3,223,634 		JBrowse link
G Cltrn collectrin, amino acid transport regulator ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,522,154...2,569,722
Ensembl chrNW_004955519:2,522,155...2,570,972 		JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:3,159,485...3,170,304
Ensembl chrNW_004955541:3,159,818...3,170,428 		JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,610,021...2,618,197 JBrowse link
G Dbndd1 dysbindin domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chrNW_004955541:3,462,667...3,465,769
Ensembl chrNW_004955541:3,463,773...3,470,293 		JBrowse link
G Def8 differentially expressed in FDCP 8 homolog ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chrNW_004955541:3,412,534...3,424,010
Ensembl chrNW_004955541:3,412,484...3,424,869 		JBrowse link
G Dorip1 dopamine receptor interacting protein 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chrNW_004955409:17,014,194...17,023,953
Ensembl chrNW_004955409:17,012,125...17,024,784 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:3,204,421...3,215,514
Ensembl chrNW_004955541:3,204,055...3,215,565 		JBrowse link
G Fanca FA complementation group A disease_progression 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
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
DNA:deletion		 ClinVar
RGD		 PMID:1273304 PMID:1792455 PMID:1927896 PMID:2472832 PMID:08896563 More... RGD:11344914 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 pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:9536098 PMID:15502827 PMID:16199547 PMID:17576681 PMID:23613520 More... 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 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 anemia | ClinVar Annotator: match by term: Fanconi's anemia
DNA:deletion: :322delG (human)		 ClinVar
RGD		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... 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 ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia		 ClinVar PMID:9536098 PMID:11239453 PMID:14695169 PMID:16199547 PMID:16280053 More... 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:11239453 PMID:16199547 PMID:16280053 PMID:17436244 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:11001585 PMID:17308347 PMID:17924555 PMID:22778927 PMID:24728327 More... 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 Annotator: match by term: Fanconi pancytopenia ClinVar PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 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 ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More... 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 | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia		 ClinVar PMID:9536098 PMID:15477547 PMID:15689359 PMID:16177225 PMID:16199547 More... 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 | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia		 ClinVar PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 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 | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia		 ClinVar PMID:2867840 PMID:9536098 PMID:16199547 PMID:17289582 PMID:17576681 More... NCBI chrNW_004955409:16,751,658...16,809,352 JBrowse link
G Fkbp3 FKBP prolyl isomerase 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chrNW_004955409:16,810,934...16,824,380
Ensembl chrNW_004955409:16,810,710...16,824,380 		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 Fscb fibrous sheath CABYR binding protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chrNW_004955409:17,433,213...17,435,957 JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,691,103...2,711,137
Ensembl chrNW_004955541:2,691,103...2,710,696 		JBrowse link
G Gas8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19367192 PMID:28492532 NCBI chrNW_004955541:3,477,067...3,494,991
Ensembl chrNW_004955541:3,476,451...3,496,572 		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 Il17c interleukin 17C ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,568,941...2,570,440
Ensembl chrNW_004955541:2,568,941...2,570,440 		JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:1,969,197...2,020,868
Ensembl chrNW_004955541:1,969,194...2,017,588 		JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,026,554...2,065,627
Ensembl chrNW_004955541:2,026,771...2,065,462 		JBrowse link
G Klhl28 kelch like family member 28 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chrNW_004955409:16,968,099...16,999,697
Ensembl chrNW_004955409:16,984,039...16,999,697 		JBrowse link
G LOC102004641 cytochrome b-245 light chain ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,570,843...2,573,822
Ensembl chrNW_004955541:2,569,727...2,574,118 		JBrowse link
G Mospd2 motile sperm domain containing 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:3,290,137...3,336,817
Ensembl chrNW_004955519:3,286,847...3,337,286 		JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,578,584...2,581,823
Ensembl chrNW_004955541:2,579,074...2,581,821 		JBrowse link
G Pabpn1l PABPN1 like, cytoplasmic ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,718,076...2,720,322
Ensembl chrNW_004955541:2,718,076...2,720,322 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:18302019 PMID:24136930 More... NCBI chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781 		JBrowse link
G Piezo1 piezo type mechanosensitive ion channel component 1 (Er blood group) ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,618,167...2,655,349
Ensembl chrNW_004955541:2,618,438...2,643,771 		JBrowse link
G Piga phosphatidylinositol glycan anchor biosynthesis class A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,852,605...2,865,848
Ensembl chrNW_004955519:2,852,555...2,867,600 		JBrowse link
G Pir pirin ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,698,207...2,813,201
Ensembl chrNW_004955519:2,698,172...2,813,206 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 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 Prpf39 pre-mRNA processing factor 39 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chrNW_004955409:16,824,638...16,845,778
Ensembl chrNW_004955409:16,824,638...16,845,778 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17924555 PMID:23613520 PMID:28492532 PMID:31558676 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 ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 PMID:21750962 More... NCBI chrNW_004955451:4,053,195...4,178,226
Ensembl chrNW_004955451:4,145,226...4,178,487 		JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,604,197...2,607,969
Ensembl chrNW_004955541:2,605,096...2,608,866 		JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:3,149,438...3,152,210
Ensembl chrNW_004955541:3,149,438...3,152,210 		JBrowse link
G Slc22a31 solute carrier family 22 member 31 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,894,053...2,897,032
Ensembl chrNW_004955541:2,892,495...2,896,840 		JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,103,437...2,129,668
Ensembl chrNW_004955541:2,103,384...2,130,310 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia		 ClinVar PMID:2291166 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 More... NCBI chrNW_004955442:13,765,660...13,792,106
Ensembl chrNW_004955442:13,770,340...13,791,314 		JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,593,530...2,599,105
Ensembl chrNW_004955541:2,593,351...2,599,175 		JBrowse link
G Spata2l spermatogenesis associated 2 like ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chrNW_004955541:3,242,380...3,246,562
Ensembl chrNW_004955541:3,242,380...3,247,330 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chrNW_004955541:3,223,552...3,232,837 JBrowse link
G Spire2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:19367192 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:19367192 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 Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 PMID:29895858 PMID:30075111 NCBI chrNW_004955409:16,885,564...16,967,865
Ensembl chrNW_004955409:16,886,423...16,967,641 		JBrowse link
G Trappc2l trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,711,051...2,715,458
Ensembl chrNW_004955541:2,710,938...2,718,804 		JBrowse link
G Usp1 ubiquitin specific peptidase 1 ISO MouseDO NCBI chrNW_004955423:27,236,242...27,254,064
Ensembl chrNW_004955423:27,237,003...27,251,892 		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:26740942 More... NCBI chrNW_004955472:1,111,649...1,124,076
Ensembl chrNW_004955472:1,107,164...1,124,076 		JBrowse link
G Vegfd vascular endothelial growth factor D ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,813,475...2,845,856
Ensembl chrNW_004955519:2,813,438...2,845,915 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:16199547 PMID:17436244 PMID:25741868 PMID:26633542 PMID:28492532 More... NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511 		JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11091222 PMID:28492532 PMID:29098742 NCBI chrNW_004955541:3,248,384...3,258,856
Ensembl chrNW_004955541:3,249,293...3,258,839 		JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:12973351 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 More... NCBI chrNW_004955424:25,307,221...25,397,900
Ensembl chrNW_004955424:25,282,007...25,399,348 		JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,531,230...2,566,959
Ensembl chrNW_004955541:2,524,499...2,567,203 		JBrowse link
G Zfpm1 zinc finger protein, FOG family member 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,461,690...2,495,614 JBrowse link
G Znf276 zinc finger protein 276 ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia		 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
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955541:2,404,549...2,438,183 JBrowse link
G Zrsr2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004955519:2,377,955...2,402,446
Ensembl chrNW_004955519:2,378,246...2,394,561 		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:08128956 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 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:17279547 More... NCBI chrNW_004955451:16,819,463...16,870,780
Ensembl chrNW_004955451:16,819,023...16,855,528 		JBrowse link
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004955541:3,235,441...3,242,377
Ensembl chrNW_004955541:3,235,448...3,242,377 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004955541:3,216,972...3,223,636
Ensembl chrNW_004955541:3,216,972...3,223,634 		JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004955541:3,159,485...3,170,304
Ensembl chrNW_004955541:3,159,818...3,170,428 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Fanconi anemia, group A ClinVar PMID:25741868 NCBI chrNW_004955442:13,559,496...13,691,913
Ensembl chrNW_004955442:13,559,496...13,692,004 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25741868 NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542 		JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004955541:3,204,421...3,215,514
Ensembl chrNW_004955541:3,204,055...3,215,565 		JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A OMIM
ClinVar		 PMID:1792455 PMID:1927896 PMID:2339692 PMID:2472832 PMID:08896563 More... 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, 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:08844212 PMID:8882868 PMID:9521584 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:25927356 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 PMID:25927356 PMID:28492532 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:25741868 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:23613520 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 Annotator: match by term: Fanconi anemia, group A ClinVar PMID:21240277 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 More... NCBI chrNW_004955442:13,765,660...13,792,106
Ensembl chrNW_004955442:13,770,340...13,791,314 		JBrowse link
G Spata2l spermatogenesis associated 2 like ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004955541:3,242,380...3,246,562
Ensembl chrNW_004955541:3,242,380...3,247,330 		JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004955541:3,223,552...3,232,837 JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004955541:3,248,384...3,258,856
Ensembl chrNW_004955541:3,249,293...3,258,839 		JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 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: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation 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
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25168418 NCBI chrNW_004955541:2,404,549...2,438,183 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 ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B OMIM
ClinVar		 PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 More... 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: FANCC-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More... NCBI chrNW_004955422:21,680,488...22,020,935 JBrowse link
G Dclre1b DNA cross-link repair 1B ISO ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:25741868 NCBI chrNW_004955435:17,173,975...17,179,986 JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: FANCC-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group C OMIM
ClinVar		 PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... 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 ClinVar Annotator: match by term: Fanconi anemia complementation group D1 ClinVar
OMIM		 PMID:1234 PMID:184056 PMID:186727 PMID:251866 PMID:278235 More... 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 ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D | ClinVar Annotator: match by term: Fanconi anemia complementation group D2 OMIM
ClinVar		 PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 More... 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:16199547 PMID:16280053 PMID:17436244 PMID:23285130 More... NCBI chrNW_004955561:1,538,960...1,542,130
Ensembl chrNW_004955561:1,538,960...1,542,130 		JBrowse link
G Pex5 peroxisomal biogenesis factor 5 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:25741868 NCBI chrNW_004955413:4,736,189...4,755,559
Ensembl chrNW_004955413:4,736,189...4,755,766 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D ClinVar PMID:16199547 PMID:17436244 PMID:25741868 PMID:26633542 PMID:28492532 More... NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511 		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 ClinVar Annotator: match by term: Fanconi anemia complementation group E OMIM
ClinVar		 PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 More... 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 ClinVar Annotator: match by term: Fanconi anemia complementation group F OMIM
ClinVar		 PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 More... 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 ClinVar Annotator: match by term: Fanconi anemia complementation group G OMIM
ClinVar		 PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 More... 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:26740942 More... 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 ClinVar Annotator: match by term: Fanconi anemia complementation group I OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17412408 PMID:17452773 PMID:17460694 More... 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:22237560 PMID:22778927 PMID:23524600 PMID:25488682 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 DNA helicase 1 susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group J OMIM
ClinVar		 PMID:2455662 PMID:3375802 PMID:9536098 PMID:11301010 PMID:12565990 More... 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 ClinVar Annotator: match by term: FANCL-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group L OMIM
ClinVar		 PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 More... 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:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 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 More... 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 susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group N ClinVar
OMIM		 PMID:100849 PMID:9536098 PMID:17200668 PMID:17200671 PMID:17200672 More... 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 susceptibility ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: RAD51C-related condition OMIM
ClinVar		 PMID:122156 PMID:1241858 PMID:1731253 PMID:2159791 PMID:2927873 More... 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
Ensembl 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 ClinVar Annotator: match by term: Fanconi anemia complementation group P OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21240275 PMID:21240277 More... 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 ClinVar Annotator: match by term: Fanconi anemia complementation group Q OMIM
ClinVar		 PMID:8797827 PMID:9485007 PMID:9579555 PMID:9580660 PMID:15159313 More... 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 ClinVar Annotator: match by term: Fanconi anemia complementation group R OMIM
ClinVar		 PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027 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 ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S OMIM
ClinVar		 PMID:1514655 PMID:2173504 PMID:2316185 PMID:2504116 PMID:2618727 More... 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 Lgr6 leucine rich repeat containing G protein-coupled receptor 6 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T ClinVar PMID:26046368 NCBI chrNW_004955406:38,274,998...38,381,677
Ensembl chrNW_004955406:38,274,958...38,383,822 		JBrowse link
G LOC102009660 protein HIRA ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T ClinVar PMID:25741868 NCBI chrNW_004955442:18,581,370...18,673,590
Ensembl chrNW_004955442:18,581,370...18,673,761 		JBrowse link
G Ube2t ubiquitin conjugating enzyme E2 T ISO ClinVar Annotator: match by term: Fanconi anemia complementation group T OMIM
ClinVar		 PMID:25741868 PMID:26046368 PMID:26119737 PMID:28492532 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 ClinVar Annotator: match by term: Fanconi anemia complementation group U OMIM
ClinVar		 PMID:11118202 PMID:19690184 PMID:22232082 PMID:22464251 PMID:23054243 More... 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 ClinVar Annotator: match by term: Fanconi anemia complementation group V | ClinVar Annotator: match by term: MAD2L2-related condition OMIM
ClinVar		 PMID:25741868 PMID:27500492 PMID:28492532 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 ClinVar Annotator: match by term: Fanconi anemia, complementation group W | ClinVar Annotator: match by term: RFWD3-related condition OMIM
ClinVar		 PMID:25741868 PMID:26474068 PMID:28492532 PMID:28691929 PMID:33044890 NCBI chrNW_004955484:2,824,057...2,857,321
Ensembl chrNW_004955484:2,824,422...2,858,283 		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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    physical disorder 4830
      congenital hypoplastic anemia 279
        Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 0
        Fanconi anemia + 104
        pure red-cell aplasia + 173
Path 2
Term Annotations click to browse term
  disease 14337
    disease of anatomical entity 14030
      Hemic and Lymphatic Diseases 3816
        hematopoietic system disease 3385
          anemia 767
            normocytic anemia 670
              aplastic anemia 318
                congenital hypoplastic anemia 279
                  Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 0
                  Fanconi anemia + 104
                  pure red-cell aplasia + 173
paths to the root