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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


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aplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc2 anaphase promoting complex subunit 2 ISO protein:decreased expression:bone marrow (human) RGD PMID:28968996 RGD:14696669 NCBI chrNW_004936669:797,475...808,952 JBrowse link
G Cd40lg CD40 ligand ISO protein:decreased expression:serum (human) RGD PMID:22537155 RGD:11352267 NCBI chrNW_004936513:10,607,617...10,620,403 JBrowse link
G Cd86 CD86 molecule ISO protein:increased expression:blood, dendritic cell (human) RGD PMID:21234821 RGD:11354968 NCBI chrNW_004936536:8,414,491...8,481,712 JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9885444 PMID:12221670 NCBI chrNW_004936647:3,081,896...3,083,864 JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 More... NCBI chrNW_004936490:15,142,526...15,146,375 JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chrNW_004936597:1,787,830...1,793,352 JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chrNW_004936537:6,234,773...6,341,782 JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chrNW_004936927:134,770...144,057 JBrowse link
G Ephx1 epoxide hydrolase 1 disease_progression
susceptibility
ISO DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
DNA:missense mutation:exon:p.H139R (human)
RGD PMID:21228718 PMID:26999617 RGD:11252118 RGD:11252120 NCBI chrNW_004936526:2,589,254...2,652,831 JBrowse link
G Fas Fas cell surface death receptor ISO protein:increased expression:CD34+ bone marrow cell
protein:decreased expression:plasma:
RGD PMID:7577642 PMID:11876982 RGD:11049159 RGD:11049449 NCBI chrNW_004936735:209,369...234,582 JBrowse link
G Flt3lg fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chrNW_004936664:3,343,541...3,351,590 JBrowse link
G Gata2 GATA binding protein 2 ISO mRNA:decreased expression:CD34+ cell RGD PMID:11328281 RGD:11049519 NCBI chrNW_004936798:406,258...414,785 JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:decreased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chrNW_004936487:19,414,135...19,417,465 JBrowse link
G Ifng interferon gamma treatment
susceptibility
ISO ClinVar Annotator: match by term: Aplastic anemia
DNA:repeats,haplotype:intron: -2,353 A>T(human)
DNA:polymorphism: : 874A>T(human)
DNA:repeats:intron:
OMIM
ClinVar
RGD
PMID:15327519 PMID:18426658 PMID:20953611 RGD:10755688 RGD:10755690 RGD:10755710 NCBI chrNW_004936545:6,139,130...6,144,543 JBrowse link
G Kit KIT proto-oncogene, receptor tyrosine kinase severity ISO RGD PMID:7694680 RGD:12910751 NCBI chrNW_004936482:17,162,854...17,238,319 JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: Aplastic anemia OMIM
ClinVar
PMID:11325820 PMID:14559852 PMID:15338273 PMID:16474176 PMID:16810201 More... NCBI chrNW_004936544:3,773,828...3,812,673 JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Aplastic anemia OMIM
ClinVar
PMID:11179007 PMID:11756153 PMID:14757862 PMID:15755897 PMID:16278825 More... NCBI chrNW_004936521:8,057,874...8,060,695 JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chrNW_004936537:6,341,961...6,344,831 JBrowse link
G Sbds SBDS ribosome maturation factor ISO ClinVar Annotator: match by term: Aplastic anemia, susceptibility to OMIM
ClinVar
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chrNW_004936543:7,324,748...7,329,774 JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:2602487 PMID:15814878 PMID:15885610 PMID:16627250 PMID:17460043 More... NCBI chrNW_004936815:468,987...492,666 JBrowse link
G Tgfb1 transforming growth factor beta 1 severity
susceptibility
ISO protein:decreased expression: :
DNA:polymorphism: :509C>T(human)
RGD PMID:24028718 PMID:24362456 RGD:11073601 RGD:11073606 NCBI chrNW_004936661:3,742,080...3,758,266 JBrowse link
G Thpo thrombopoietin no_association ISO DNA:SNPs:exons:
DNA:mutation:cds:c.112C>T(human)
RGD PMID:22686250 PMID:24085763 RGD:11073679 RGD:11073680 NCBI chrNW_004936578:5,508,669...5,515,984 JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chrNW_004936722:320,171...323,703 JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:12941546 RGD:10449452 NCBI chrNW_004936727:1,936,066...1,937,766 JBrowse link
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 4 OMIM
ClinVar
PMID:3653362 PMID:20817635 PMID:25741868 PMID:26491070 NCBI chrNW_004936531:7,702,186...7,716,428 JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive OMIM
ClinVar
PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 More... NCBI chrNW_004936473:28,602,920...28,621,024 JBrowse link
Autosomal Sideroblastic Anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia ClinVar PMID:25741868 NCBI chrNW_004936629:187,281...205,493 JBrowse link
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srp72 signal recognition particle 72 ISO ClinVar Annotator: match by term: Bone marrow failure syndrome 1 OMIM
ClinVar
PMID:22541560 PMID:25741868 PMID:28492532 NCBI chrNW_004936482:18,687,088...18,721,734 JBrowse link
congenital hypoplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004936493:5,308,268...5,332,934 JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:15895080 PMID:16783379 PMID:20301538 PMID:22706301 PMID:24453067 More... NCBI chrNW_004936721:742,862...750,843 JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chrNW_004936706:568,443...575,973 JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chrNW_004936725:553,278...564,846 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:24942156 PMID:28492532 NCBI chrNW_004936646:452,371...454,787 JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis OMIM
ClinVar
PMID:24942156 PMID:25741868 NCBI chrNW_004936588:5,154,614...5,155,522 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_004936751:1,350,542...1,355,449 JBrowse link
Diamond-Blackfan anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,310,556...1,321,974 JBrowse link
G Alox15b arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,279,944...1,288,321 JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,329,492...1,350,914 JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 NCBI chrNW_004936595:1,531,694...1,545,206 JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,435,601...1,437,423 JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,417,718...1,420,480 JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,131,198...1,154,615 JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,174,559...1,191,171 JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 NCBI chrNW_004936595:1,456,911...1,476,331 JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:22689679 PMID:25741868 More... NCBI chrNW_004936537:6,234,773...6,341,782 JBrowse link
G Dnah2 dynein axonemal heavy chain 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:970,004...1,076,582 JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:954,383...960,573 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:8628290 PMID:11566888 PMID:12200364 PMID:15070711 More... NCBI chrNW_004936721:742,862...750,843 JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004936721:719,660...731,800 JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,235,747...1,250,294 JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar NCBI chrNW_004936475:3,189,008...3,222,242 JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,352,621...1,355,177 JBrowse link
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,164,609...1,172,964 JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,077,318...1,099,082 JBrowse link
G Klf1 Kruppel like factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chrNW_004936659:1,946,614...1,950,003 JBrowse link
G LOC101959443 cytochrome b5 domain-containing protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,102,009...1,103,965 JBrowse link
G LOC101969021 somatotropin treatment ISO RGD PMID:25492299 RGD:11352737 NCBI chrNW_004936541:4,524,397...4,528,234 JBrowse link
G Naa38 N-alpha-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,100,774...1,101,909 JBrowse link
G Odf4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 NCBI chrNW_004936595:1,560,859...1,568,037 JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,366,883...1,382,138 JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 NCBI chrNW_004936595:1,483,688...1,499,716 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_004936521:1,570,863...1,613,410 JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 NCBI chrNW_004936595:1,513,855...1,515,300 JBrowse link
G Rnf227 ring finger protein 227 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,155,936...1,158,022 JBrowse link
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16199547 PMID:19061985 PMID:19773262 PMID:22689679 PMID:25741868 More... NCBI chrNW_004936474:8,855,782...8,858,287 JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:22431104 PMID:25741868 PMID:28492532 NCBI chrNW_004936595:1,603,913...1,609,125 JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More... NCBI chrNW_004936537:6,341,961...6,344,831 JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:23718193 More... NCBI chrNW_004936476:24,645,235...24,650,940 JBrowse link
G Rps17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17647292 NCBI chrNW_004936483:17,211,129...17,214,509 JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 More... NCBI chrNW_004936706:568,443...575,973 JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:17186470 PMID:17576681 PMID:20960466 PMID:22855961 More... NCBI chrNW_004936521:1,562,013...1,568,280 JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004936532:1,734,993...1,740,202 JBrowse link
G Slc25a35 solute carrier family 25 member 35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 NCBI chrNW_004936595:1,515,279...1,519,466 JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004936721:646,778...661,144 JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,404,017...1,406,756 JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,099,126...1,100,226 JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 PMID:30146126 NCBI chrNW_004936595:919,807...935,367 JBrowse link
G Trappc1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,172,957...1,174,517 JBrowse link
G Vamp2 vesicle associated membrane protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:1,385,692...1,389,484 JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chrNW_004936721:634,685...641,248 JBrowse link
G Wrap53 WD repeat containing antisense to TP53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22267198 PMID:22387016 PMID:28492532 NCBI chrNW_004936595:936,184...952,784 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:25741868 PMID:28492532 NCBI chrNW_004936537:6,234,773...6,341,782 JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:25741868 NCBI chrNW_004936475:3,189,008...3,222,242 JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936537:6,341,961...6,344,831 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:12586610 PMID:17517689 More... NCBI chrNW_004936706:568,443...575,973 JBrowse link
Diamond-Blackfan anemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf4 IKAROS family zinc finger 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:23812780 NCBI chrNW_004936646:417,565...449,021 JBrowse link
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 More... NCBI chrNW_004936646:452,371...454,787 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 NCBI chrNW_004936595:1,603,913...1,609,125 JBrowse link
Diamond-Blackfan anemia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkiras1 NFKB inhibitor interacting Ras like 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 ClinVar PMID:23812780 PMID:25741868 PMID:28492532 NCBI chrNW_004936473:15,559,243...15,571,780 JBrowse link
G Rpl15 ribosomal protein L15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 OMIM
ClinVar
PMID:23812780 PMID:25741868 PMID:28492532 NCBI chrNW_004936473:15,571,897...15,575,812 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 OMIM
ClinVar
PMID:24829207 PMID:25741868 NCBI chrNW_004936583:426,476...428,008 JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsr2 TSR2 ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis OMIM
ClinVar
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chrNW_004936751:1,350,542...1,355,449 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 OMIM
ClinVar
PMID:25424902 PMID:25741868 NCBI chrNW_004936490:17,696,911...17,699,844 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 OMIM
ClinVar
PMID:25424902 PMID:25741868 NCBI chrNW_004936580:3,740,088...3,741,343 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 OMIM
ClinVar
PMID:28280134 NCBI chrNW_004936664:2,665,084...2,668,706 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 OMIM
ClinVar
PMID:28280134 NCBI chrNW_004936487:13,056,243...13,060,900 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_004936501:4,650,832...4,656,223 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_004936521:1,570,863...1,613,410 JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 OMIM
ClinVar
PMID:17186470 PMID:23812780 PMID:25741868 PMID:26845104 PMID:27329125 More... NCBI chrNW_004936521:1,562,013...1,568,280 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:23718193 PMID:23812780 NCBI chrNW_004936483:17,211,129...17,214,509 JBrowse link
Diamond-Blackfan anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 ClinVar PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 More... NCBI chrNW_004936784:172,190...217,234 JBrowse link
G Rpl35a ribosomal protein L35a ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 OMIM
ClinVar
PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 More... NCBI chrNW_004936784:167,623...171,962 JBrowse link
Diamond-Blackfan anemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 ClinVar PMID:19061985 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chrNW_004936537:6,234,773...6,341,782 JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 OMIM
ClinVar
PMID:19061985 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chrNW_004936537:6,341,961...6,344,831 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:19061985 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chrNW_004936474:8,855,782...8,858,287 JBrowse link
Diamond-Blackfan anemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:19061985 PMID:23718193 PMID:25424902 More... NCBI chrNW_004936532:1,734,993...1,740,202 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_004936476:24,645,235...24,650,940 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_004936543:742,722...745,332 JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia-like ClinVar NCBI chrNW_004936686:1,459,582...1,556,478 JBrowse link
Fanconi anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,735,206...1,778,100 JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:336,269...449,490 JBrowse link
G Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,948,130...4,957,306 JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,698,234...4,723,131 JBrowse link
G Aopep aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More... NCBI chrNW_004936626:3,704,474...3,973,913 JBrowse link
G Arhgdig Rho GDP dissociation inhibitor gamma ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:637,150...640,984 JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit c ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,536,393...1,542,218 JBrowse link
G Axin1 axin 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:599,963...633,837 JBrowse link
G Baiap3 BAI1 associated protein 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,542,521...2,556,540 JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,136,862...1,144,045 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_004936472:26,945,659...27,017,693 JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,836,566...1,838,950 JBrowse link
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 More... NCBI chrNW_004936490:3,001,445...3,139,538 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_004936602:3,147,773...3,155,739 JBrowse link
G C1qtnf8 C1q and TNF related 8 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:53,208...54,391 JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,702,224...2,724,574 JBrowse link
G Capn15 calpain 15 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:444,100...458,461 JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,856,529...1,868,107 JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,468,281...2,475,901 JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:289,765...294,272 JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,596,897...1,620,588 JBrowse link
G Cdip1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,559,062...4,578,896 JBrowse link
G Chtf18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:232,387...240,866 JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:277,525...286,929 JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,444,321...2,467,734 JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,153,189...1,154,012 JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,155,252...1,156,007 JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:779,399...810,534 JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:96,107...152,075 JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,284,315...2,341,033 JBrowse link
G CUNH16orf89 chromosome unknown C16orf89 homolog ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,936,034...4,948,076 JBrowse link
G CUNH16orf90 chromosome unknown C16orf90 homolog ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:810,164...815,392 JBrowse link
G CUNH16orf91 chromosome unknown C16orf91 homolog ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,484,092...2,485,012 JBrowse link
G CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,599,136...4,637,123 JBrowse link
G Decr2 2,4-dienoyl-CoA reductase 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:542,365...553,541 JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,725,294...4,738,515 JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:43,898...74,939 JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:704,948...715,846 JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,808,184...1,810,735 JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,811,131...1,829,193 JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,794,673...1,807,306 JBrowse link
G Eef2kmt eukaryotic elongation factor 2 lysine methyltransferase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,957,445...4,984,816 JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,296,304...1,301,183 JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,217,352...2,220,556 JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,179,730...2,181,296 JBrowse link
G Fam234a family with sequence similarity 234 member A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:648,859...679,012 JBrowse link
G Fanca FA complementation group A disease_progression ISO DNA:deletion
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
RGD
ClinVar
PMID:1792455 PMID:1927896 PMID:2472832 PMID:08896563 PMID:09371798 More... RGD:11344914 NCBI chrNW_004936641:281,119...319,796 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:17576681 PMID:23613520 PMID:24033266 More... NCBI chrNW_004936470:4,305,220...4,323,456 JBrowse link
G Fancc FA complementation group C onset ISO DNA:deletion: :322delG (human)
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
RGD
ClinVar
PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 More... RGD:11344914 NCBI chrNW_004936626:3,980,311...4,147,042 JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 More... NCBI chrNW_004936602:3,162,177...3,220,468 JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9536098 PMID:16199547 PMID:16280053 PMID:17436244 PMID:17576681 More... NCBI chrNW_004936602:3,160,505...3,161,374 JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:25741868 NCBI chrNW_004936476:23,783,161...23,794,646 JBrowse link
G Fancf FA complementation group F ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9382107 PMID:10615118 PMID:16084127 PMID:16774934 PMID:17924555 More... NCBI chrNW_004936654:3,298,193...3,301,251 JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9536098 PMID:09806548 PMID:10807541 PMID:10961856 PMID:11093276 More... NCBI chrNW_004936524:3,103,912...3,110,246 JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:9536098 PMID:15477547 PMID:16177225 PMID:16199547 PMID:17088268 More... NCBI chrNW_004936483:15,096,215...15,179,856 JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19405097 PMID:21279724 More... NCBI chrNW_004936491:4,057,312...4,119,966 JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar PMID:2867840 PMID:9536098 PMID:16199547 PMID:17289582 PMID:17576681 More... NCBI chrNW_004936583:4,085,802...4,145,621 JBrowse link
G Fbxl16 F-box and leucine rich repeat protein 16 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:308,682...320,774 JBrowse link
G Flt3lg fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chrNW_004936664:3,343,541...3,351,590 JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,212,517...1,236,576 JBrowse link
G Flywch2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,241,550...1,251,555 JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,051,362...2,053,812 JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:161,419...168,012 JBrowse link
G Glyr1 glyoxylate reductase 1 homolog ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,761,838...4,794,191 JBrowse link
G Gng13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:230,439...232,426 JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,529,634...2,540,474 JBrowse link
G Hagh hydroxyacylglutathione hydrolase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,181,475...2,200,469 JBrowse link
G Haghl hydroxyacylglutathione hydrolase like ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:286,958...290,062 JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,147,364...1,148,954 JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,556,617...4,558,250 JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532
G Ifng interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chrNW_004936545:6,139,130...6,144,543 JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,344,448...2,419,396 JBrowse link
G Igfals insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,205,294...2,207,343 JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chrNW_004936557:5,834,874...5,838,502 JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:327,053...328,789 JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,265,360...2,283,887 JBrowse link
G Kctd5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,418,638...1,444,609 JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,201,008...1,205,593 JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:138,470...200,120 JBrowse link
G LOC101957668 CREB binding protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:552,447...663,237 JBrowse link
G LOC101963077 phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,834,016...1,836,359 JBrowse link
G LOC101972576 valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004936524:3,085,959...3,102,461 JBrowse link
G LOC101977328 olfactory receptor 15 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:901,542...905,354 JBrowse link
G Luc7l LUC7 like ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:687,352...722,720 JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,223,020...2,263,388 JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chrNW_004936641:193,885...198,730 JBrowse link
G Mcrip2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:360,671...365,512 JBrowse link
G Mefv MEFV innate immuity regulator, pyrin ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:970,706...980,605 JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,099,967...2,176,279 JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:295,970...301,344 JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:368,532...371,075 JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,647,550...4,693,143 JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,839,135...1,849,307 JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,118,432...1,128,315 JBrowse link
G Mrpl28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:580,863...583,540 JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,220,492...2,221,716 JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,086,573...2,090,752 JBrowse link
G Naa60 N-alpha-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:818,386...838,258 JBrowse link
G Nagpa N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,918,774...4,929,064 JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,073,481...2,075,989 JBrowse link
G Nhlrc4 NHL repeat containing 4 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:430,023...433,632 JBrowse link
G Nlrc3 NLR family CARD domain containing 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:757,121...773,924 JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,222,055...2,222,977 JBrowse link
G Nme4 NME/NM23 nucleoside diphosphate kinase 4 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:553,931...557,744 JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:33,738...40,716 JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,054,429...2,060,098 JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,017,040...2,019,583 JBrowse link
G Nthl1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,993,443...2,000,323 JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,581,322...1,585,893 JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,208,102...2,211,910 JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17200668 PMID:18302019 PMID:24136930 PMID:25099575 PMID:25741868 More... NCBI chrNW_004936501:8,246,927...8,273,258 JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:153,958...161,635 JBrowse link
G Paqr4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,196,650...1,200,067 JBrowse link
G Pdia2 protein disulfide isomerase family A member 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:634,034...637,177 JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,444,819...1,487,628 JBrowse link
G Pgap6 post-GPI attachment to proteins 6 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:564,963...580,617 JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:415,232...429,902 JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,923,383...1,958,160 JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,191,534...1,196,532 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:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chrNW_004936483:15,178,947...15,196,277 JBrowse link
G Ppl periplakin ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,826,271...4,866,093 JBrowse link
G Prf1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chrNW_004936521:8,057,874...8,060,695 JBrowse link
G Prr35 proline rich 35 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:433,726...439,882 JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,381,624...1,385,973 JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,408,379...1,415,137 JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,305,167...1,307,695 JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,313,785...1,314,690 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_004936626:4,241,993...4,301,919 JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,435,291...2,439,837 JBrowse link
G Rab11fip3 RAB11 family interacting protein 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:470,307...535,958 JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,896,360...1,902,272 JBrowse link
G Rab40c RAB40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:375,663...409,243 JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 PMID:21750962 More... NCBI chrNW_004936490:4,440,638...4,473,301 JBrowse link
G Rgs11 regulator of G protein signaling 11 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:641,339...647,833 JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:332,838...335,057 JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:336,506...341,671 JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,066,869...2,069,537 JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,784,396...1,794,269 JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,756,069...4,761,484 JBrowse link
G Rpl3l ribosomal protein L3 like ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,078,903...2,086,333 JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,071,295...2,073,409 JBrowse link
G Rpusd1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:241,190...244,180 JBrowse link
G Sec14l5 SEC14 like lipid binding 5 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,879,822...4,915,926 JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,744,772...4,750,495 JBrowse link
G Slc9a3r2 SLC9A3 regulator 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,000,977...2,006,102 JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit 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:16199547 PMID:17576681 PMID:19596235 PMID:19596236 More... NCBI chrNW_004936694:720,585...744,477 JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,754,946...4,755,830 JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:128,386...132,648 JBrowse link
G Spire2 spire type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:25741868 PMID:28492532 PMID:29098742 NCBI chrNW_004936641:236,135...246,004 JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,212,022...2,217,409 JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:224,023...275,069 JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,280,104...1,296,301 JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:60,812...63,149 JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:328,767...330,963 JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,043,646...2,047,897 JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,556,717...1,582,019 JBrowse link
G Tbl3 transducin beta like 3 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,060,218...2,066,525 JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219 PMID:28492532 PMID:29098742 NCBI chrNW_004936641:202,522...232,962 JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,591,392...1,595,693 JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,418,223...2,433,630 JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:210,863...222,531 JBrowse link
G Thoc6 THO complex 6 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,144,122...1,147,345 JBrowse link
G Tigd7 tigger transposable element derived 7 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:938,233...943,347 JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,382,672...2,402,798 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_004936727:1,936,066...1,937,766 JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,149,169...1,151,098 JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,868,309...1,886,772 JBrowse link
G Trap1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:667,687...704,994 JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,958,152...1,993,373 JBrowse link
G Tsr3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,540,446...2,542,666 JBrowse link
G Ubald1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,641,859...4,647,264 JBrowse link
G Ube2i ubiquitin conjugating enzyme E2 I ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,561,701...2,571,284 JBrowse link
G Ubn1 ubinuclein 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936530:4,795,974...4,826,217 JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,492,102...2,529,662 JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:128,398...138,954 JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17436244 PMID:28492532 NCBI chrNW_004936602:3,135,790...3,140,622 JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 More... NCBI chrNW_004936491:3,956,171...4,057,753 JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:321,877...326,984 JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:342,376...359,853 JBrowse link
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936501:371,328...375,271 JBrowse link
G Zg16b zymogen granule protein 16B ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532
G Znf174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:870,271...881,273 JBrowse link
G Znf200 zinc finger protein 200 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:988,300...998,829 JBrowse link
G Znf205 zinc finger protein 205 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,072,633...1,084,923 JBrowse link
G Znf213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,054,433...1,060,659 JBrowse link
G Znf263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:948,042...954,920 JBrowse link
G Znf276 zinc finger protein 276 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 More... NCBI chrNW_004936641:305,423...332,312 JBrowse link
G Znf597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:849,369...854,290 JBrowse link
G Znf598 zinc finger protein 598, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:2,019,714...2,035,885 JBrowse link
G Znf75a zinc finger protein 75a ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:907,382...936,997 JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chrNW_004936694:1,100,190...1,107,114 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_004936626:3,704,474...3,973,913 JBrowse link
G Brca1 BRCA1 DNA repair associated ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17308087 More... NCBI chrNW_004936490:17,735,444...17,801,456 JBrowse link
G Cdk10 cyclin dependent kinase 10 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004936641:351,905...359,553 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_004936641:366,563...376,303 JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004936641:413,331...426,514 JBrowse link
G Dpep1 dipeptidase 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004936641:379,112...384,711 JBrowse link
G Fanca FA complementation group A ISO 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_004936641:281,119...319,796 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_004936470:4,305,220...4,323,456 JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:08128956 PMID:08348157 PMID:8799375 PMID:08844212 PMID:8882868 More... NCBI chrNW_004936626:3,980,311...4,147,042 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_004936602:3,162,177...3,220,468 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_004936602:3,160,505...3,161,374 JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:28492532 NCBI chrNW_004936524:3,103,912...3,110,246 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_004936483:15,096,215...15,179,856 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_004936491:4,057,312...4,119,966 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_004936583:4,085,802...4,145,621 JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:25741868 More... NCBI chrNW_004936694:720,585...744,477 JBrowse link
G Spata2l spermatogenesis associated 2 like ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004936641:347,891...351,951 JBrowse link
G Spata33 spermatogenesis associated 33 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004936641:360,941...366,496 JBrowse link
G Vps9d1 VPS9 domain containing 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:23613520 NCBI chrNW_004936641:334,571...344,474 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_004936491:3,956,171...4,057,753 JBrowse link
G Znf276 zinc finger protein 276 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:9371798 PMID:09399890 PMID:9536098 PMID:09721219 PMID:10090479 More... NCBI chrNW_004936641:305,423...332,312 JBrowse link
G Znf469 zinc finger protein 469 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group A ClinVar PMID:25168418 NCBI chrNW_004936641:1,193,085...1,205,283 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_004936470:4,305,220...4,323,456 JBrowse link
Fanconi anemia complementation group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Fanconi anemia complementation group C ClinVar PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 More... NCBI chrNW_004936626:3,704,474...3,973,913 JBrowse link
G Fancc FA complementation group C ISO 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_004936626:3,980,311...4,147,042 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 OMIM
ClinVar
PMID:1234 PMID:1232165 PMID:1843150 PMID:1990134 PMID:2928257 More... NCBI chrNW_004936472:26,945,659...27,017,693 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 D2 OMIM
ClinVar
PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 PMID:21356188 More... NCBI chrNW_004936602:3,162,177...3,220,468 JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia complementation group D2 ClinVar PMID:11239453 PMID:16280053 PMID:17436244 PMID:23613520 PMID:24728327 More... NCBI chrNW_004936602:3,160,505...3,161,374 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_004936476:23,783,161...23,794,646 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:16084127 PMID:16774934 PMID:17924555 More... NCBI chrNW_004936654:3,298,193...3,301,251 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:10807541 PMID:10961856 PMID:11093276 More... NCBI chrNW_004936524:3,103,912...3,110,246 JBrowse link
G LOC101972576 valosin containing protein ISO ClinVar Annotator: match by term: Fanconi anemia complementation group G ClinVar PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004936524:3,085,959...3,102,461 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:17412408 PMID:17452773 PMID:17460694 PMID:17576681 More... NCBI chrNW_004936483:15,096,215...15,179,856 JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia complementation group I ClinVar PMID:18414213 PMID:22778927 PMID:23524600 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936483:15,178,947...15,196,277 JBrowse link
Fanconi anemia complementation group J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brip1 BRCA1 interacting helicase 1 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group J OMIM
ClinVar
PMID:9536098 PMID:11301010 PMID:12565990 PMID:12569564 PMID:12872252 More... NCBI chrNW_004936490:3,001,445...3,139,538 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: Fanconi anemia complementation group L OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 More... NCBI chrNW_004936491:4,057,312...4,119,966 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_004936491:3,956,171...4,057,753 JBrowse link
Fanconi Anemia Complementation Group M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group M ClinVar PMID:16116422 PMID:19423727 PMID:19737859 PMID:25741868 PMID:28492532 NCBI chrNW_004936583:4,085,802...4,145,621 JBrowse link
Fanconi anemia complementation group N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group N OMIM
ClinVar
PMID:16199547 PMID:16793542 PMID:17200668 PMID:17200671 PMID:17200672 More... NCBI chrNW_004936501:8,246,927...8,273,258 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_004936490:4,639,415...4,679,153 JBrowse link
G Mtmr4 myotubularin related protein 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chrNW_004936490:4,611,350...4,638,181 JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O OMIM
ClinVar
PMID:9536098 PMID:12442171 PMID:12966089 PMID:14704354 PMID:15126333 More... NCBI chrNW_004936490:4,440,638...4,473,301 JBrowse link
G Rnf43 ring finger protein 43 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chrNW_004936490:4,660,904...4,742,669 JBrowse link
G Septin4 septin 4 ISO ClinVar Annotator: match by term: Fanconi anemia complementation group O ClinVar PMID:28492532 NCBI chrNW_004936490:4,597,888...4,609,905 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_004936490:4,499,825...4,576,952 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:21240275 PMID:21240277 PMID:21805310 PMID:22383991 PMID:22401137 More... NCBI chrNW_004936694:720,585...744,477 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:9579555 PMID:15886521 PMID:16550608 PMID:20221251 More... NCBI chrNW_004936501:2,301,072...2,329,346 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 NCBI chrNW_004936471:4,119,020...4,136,811 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:2618727 PMID:7493024 PMID:7663517 PMID:7795652 PMID:7837387 More... NCBI chrNW_004936490:17,735,444...17,801,456 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_004936567:2,238,036...2,355,836 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 NCBI chrNW_004936567:2,222,317...2,226,725 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:22232082 PMID:22464251 PMID:23054243 PMID:25637381 More... NCBI chrNW_004936527:7,760,609...7,785,360 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 OMIM
ClinVar
PMID:27500492 NCBI chrNW_004936474:538,703...542,901 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 OMIM
ClinVar
PMID:25741868 PMID:26474068 PMID:28691929 PMID:33044890 NCBI chrNW_004936475:23,544,974...23,586,716 JBrowse link
HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia OMIM
ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chrNW_004936695:353,965...492,014 JBrowse link
Hypochromic Microcytic Anemia with Iron Overload 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc11a2 solute carrier family 11 member 2 ISO OMIM NCBI chrNW_004936512:8,590,302...8,622,121 JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1 like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936607:3,576,357...3,632,423 JBrowse link
G Pus1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:28492532 NCBI chrNW_004936660:2,192,583...2,199,645 JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936607:3,565,333...3,590,499 JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pus1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 OMIM
ClinVar
PMID:7726239 PMID:14981724 PMID:15108122 PMID:17056637 PMID:23707380 More... NCBI chrNW_004936660:2,192,583...2,199,645 JBrowse link
myopathy, lactic acidosis, and sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm1l dynamin 1 like ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936607:3,576,357...3,632,423 JBrowse link
G Yars2 tyrosyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2 OMIM
ClinVar
PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 More... NCBI chrNW_004936607:3,565,333...3,590,499 JBrowse link
pure red-cell aplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101972117 hepcidin antimicrobial peptide ISO mRNA:increased expression:liver RGD PMID:25580431 RGD:11041717 NCBI chrNW_004936570:1,009,344...1,010,654 JBrowse link
sideroblastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:16892088 PMID:18398482 PMID:18637800 RGD:11038732 NCBI chrNW_004936683:1,224,703...1,326,761 JBrowse link
G Alad aminolevulinate dehydratase ISO protein:decreased activity:kidney, liver, spleen RGD PMID:5891055 RGD:12904678 NCBI chrNW_004936559:226,481...237,258 JBrowse link
G Alas2 5'-aminolevulinate synthase 2 susceptibility ISO DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:7949148 PMID:16716198 PMID:16892088 RGD:1599037 NCBI chrNW_004936751:1,818,255...1,841,028 JBrowse link
G Calr calreticulin ISO DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) RGD PMID:24325359 RGD:11352763 NCBI chrNW_004936659:1,994,695...1,999,070 JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19036111 NCBI chrNW_004936596:2,854,620...2,857,018 JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936531:7,702,186...7,716,428 JBrowse link
G Pus1 pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia ClinVar PMID:28492532 NCBI chrNW_004936660:2,192,583...2,199,645 JBrowse link
G Slc25a38 solute carrier family 25 member 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412178 NCBI chrNW_004936473:28,602,920...28,621,024 JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16910769 PMID:21326867 NCBI chrNW_004936489:11,178,338...11,191,601 JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:increased expression:erythroblast: RGD PMID:21326867 RGD:11062136 NCBI chrNW_004936784:696,738...728,385 JBrowse link
sideroblastic anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alas2 5'-aminolevulinate synthase 2 onset ISO ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
DNA:mutations:exons:p.K299Q,A172T(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
OMIM
ClinVar
RGD
PMID:1570328 PMID:7560104 PMID:7705839 PMID:7949148 PMID:8107717 More... RGD:11035241 RGD:11035243 NCBI chrNW_004936751:1,818,255...1,841,028 JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chrNW_004936751:1,807,867...1,817,780 JBrowse link
G Slc25a38 solute carrier family 25 member 38 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia ClinVar PMID:28492532 NCBI chrNW_004936473:28,602,920...28,621,024 JBrowse link
Sideroblastic Anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hscb HscB mitochondrial iron-sulfur cluster cochaperone ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 5 OMIM
ClinVar
PMID:32634119 NCBI chrNW_004936657:2,848,282...2,860,115 JBrowse link
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay OMIM
ClinVar
PMID:2649490 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chrNW_004936577:2,814,464...2,834,068 JBrowse link
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 susceptibility ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
DNA:missense mutation: :p.I400M (human)
OMIM
ClinVar
RGD
PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11843825 More... RGD:1598600 NCBI chrNW_004936683:1,224,703...1,326,761 JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar NCBI chrNW_004936751:1,818,255...1,841,028 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13689
    disease of anatomical entity 13417
      hematopoietic system disease 2485
        anemia 600
          aplastic anemia 315
            Aplastic Anemia, Idiopathic 0
            Bone Marrow Failure Syndrome 1 1
            WT Limb Blood Syndrome 0
            congenital hypoplastic anemia + 277
            myelophthisic anemia 0
            pure red-cell aplasia + 63
            sideroblastic anemia + 18
Path 2
Term Annotations click to browse term
  disease 13689
    disease of anatomical entity 13417
      Hemic and Lymphatic Diseases 2872
        hematopoietic system disease 2485
          bone marrow disease 692
            Bone Marrow Failure Disorders 326
              aplastic anemia 315
                Aplastic Anemia, Idiopathic 0
                Bone Marrow Failure Syndrome 1 1
                WT Limb Blood Syndrome 0
                congenital hypoplastic anemia + 277
                myelophthisic anemia 0
                pure red-cell aplasia + 63
                sideroblastic anemia + 18
paths to the root