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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


show annotations for term's descendants           Sort by:
 
aplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc2 anaphase promoting complex subunit 2 ISO protein:decreased expression:bone marrow (human) RGD PMID:28968996 RGD:14696669 NCBI chr 3:2,490,496...2,502,247
Ensembl chr 3:2,490,518...2,502,248
JBrowse link
G Cd40lg CD40 ligand ISO protein:decreased expression:serum (human) RGD PMID:22537155 RGD:11352267 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd86 CD86 molecule ISO protein:increased expression:blood, dendritic cell (human) RGD PMID:21234821 RGD:11354968 NCBI chr11:67,060,305...67,117,990
Ensembl chr11:67,082,193...67,118,795
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9885444, PMID:12221670 NCBI chr10:39,602,089...39,604,070
Ensembl chr10:39,602,089...39,604,070
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, PMID:16553037 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr17:9,631,925...9,637,317
Ensembl chr17:9,631,925...9,637,316
JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr14:2,789,699...2,860,354
Ensembl chr14:2,789,650...2,860,333
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733 NCBI chr  X:155,844,914...155,862,363
Ensembl chr  X:155,844,857...155,862,475
JBrowse link
G Ephx1 epoxide hydrolase 1 susceptibility
disease_progression
ISO DNA:missense mutation:exon:p.H139R (human)
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human)
RGD PMID:21228718, PMID:26999617 RGD:11252118, RGD:11252120 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
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 chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand ISO RGD PMID:16212902 RGD:1582425 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 1:101,126,006...101,131,413
Ensembl chr 1:101,124,479...101,131,413
JBrowse link
G Gata2 GATA binding protein 2 ISO mRNA:decreased expression:CD34+ cell RGD PMID:11328281 RGD:11049519 NCBI chr 4:120,129,028...120,142,490
Ensembl chr 4:120,133,713...120,142,488
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:decreased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 3:7,190,721...7,203,444
Ensembl chr 3:7,190,722...7,203,420
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO in male RGD PMID:16079101 RGD:10450858 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association
ISO RGD PMID:14681495, PMID:16227674 RGD:10450790, RGD:10450878 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Ifng interferon gamma susceptibility
treatment
ISO ClinVar Annotator: match by OMIM:609135
DNA:polymorphism: : 874A>T(human)
DNA:repeats,haplotype:intron: -2,353 A>T(human)
DNA:repeats:intron:
OMIM
ClinVar
PMID:18426658, PMID:20953611, PMID:15327519 RGD:10755710, RGD:10755690, RGD:10755688 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase severity IMP RGD PMID:7694680 RGD:12910751 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G KitWs KIT proto-oncogene receptor tyrosine kinase; mutant 1 severity IMP RGD PMID:7694680 RGD:12910751
G Nbn nibrin ISO ClinVar Annotator: match by term: Aplastic anemia OMIM
ClinVar
PMID:11325820, PMID:14559852, PMID:15338273, PMID:16474176, PMID:16810201, PMID:17695489, PMID:17894553, PMID:17899368, PMID:18049891, PMID:18280732, PMID:19393249, PMID:19452044, PMID:19523210, PMID:19813148, PMID:19908051, PMID:21212067, PMID:21698754, PMID:22131123, PMID:22373003, PMID:23317186, PMID:23555315, PMID:24093751, PMID:24113799, PMID:24728327, PMID:24830725, PMID:25619955, PMID:25712764, PMID:25741868, PMID:26083025, PMID:26315354, PMID:26467025, PMID:26722329, PMID:27153395, PMID:27616075, PMID:27621404, PMID:28261280, PMID:28492532, PMID:29335925, PMID:30441849, PMID:32566746 NCBI chr 5:29,622,347...29,656,877
Ensembl chr 5:29,622,281...29,656,864
JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar
OMIM
PMID:17311987, PMID:25741868, PMID:28492532 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Rasa3 RAS p21 protein activator 3 ISS OMIM:609135 MouseDO NCBI chr16:81,320,090...81,434,239
Ensembl chr16:81,318,633...81,434,363
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr14:2,860,963...2,867,397
Ensembl chr14:2,860,965...2,867,397
JBrowse link
G RT1-Ba RT1 class II, locus Ba treatment ISO DNA:polymorphism, haplotype RGD PMID:12070003, PMID:7994040 RGD:11041765, RGD:11041775 NCBI chr20:4,066,133...4,070,726
Ensembl chr20:4,066,132...4,070,721
JBrowse link
G RT1-Bb RT1 class II, locus Bb severity
treatment
ISO DNA:polymorphism, haplotype RGD PMID:24979673, PMID:7994040, PMID:12070003 RGD:11041757, RGD:11041775, RGD:11041765 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Sbds SBDS, ribosome maturation factor ISO ClinVar Annotator: match by term: Aplastic anemia, susceptibility to OMIM
ClinVar
PMID:10393609, PMID:10556188, PMID:11553003, PMID:12496757, PMID:14749921, PMID:14984468, PMID:15769891, PMID:15860664, PMID:15942154, PMID:16047374, PMID:17478638, PMID:19148133, PMID:21536732, PMID:21695142, PMID:22191555, PMID:22934832, PMID:22935661, PMID:23351992, PMID:24033266, PMID:24388329, PMID:24629175, PMID:25525159, PMID:25741868, PMID:26822237, PMID:32581362 NCBI chr12:29,921,443...29,930,602
Ensembl chr12:29,921,443...29,930,600
JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:12090986, PMID:12676774, PMID:12972604, PMID:15082312, PMID:15098033, PMID:15319288, PMID:15550482, PMID:17640862, PMID:19095616, PMID:19835419, PMID:20022961, PMID:21844345, PMID:22341970, PMID:24033266, PMID:25612863, PMID:28492532 NCBI chr 2:116,432,723...116,433,110
Ensembl chr 2:116,432,691...116,433,110
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by OMIM:609135
ClinVar Annotator: match by term: Aplastic anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12167716, PMID:15814878, PMID:15885610, PMID:16627250, PMID:17460043, PMID:18042801, PMID:18635888, PMID:18753630, PMID:18931339, PMID:19147845, PMID:19561322, PMID:19674077, PMID:19760749, PMID:19796246, PMID:20858879, PMID:20966039, PMID:21258621, PMID:21520173, PMID:21602826, PMID:21635204, PMID:22424236, PMID:22476886, PMID:23538340, PMID:23716176, PMID:23901009, PMID:24033266, PMID:24983628, PMID:25108601, PMID:25741868, PMID:25785092, PMID:26024875, PMID:26360549, PMID:26365799, PMID:28154186, PMID:28492532, PMID:28677271, PMID:28813500, PMID:30426156, PMID:23336163 RGD:11038668 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tgfb1 transforming growth factor, beta 1 susceptibility
severity
ISO DNA:polymorphism: :509C>T(human)
protein:decreased expression: :
RGD PMID:24362456, PMID:24028718 RGD:11073601, RGD:11073606 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
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 chr11:82,845,676...82,853,439
Ensembl chr11:83,868,655...83,873,910
Ensembl chr11:83,868,655...83,873,910
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:12941546 RGD:10449452 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
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, autosomal dominant ClinVar
OMIM
PMID:3653362, PMID:26491070 NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235
JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:128,750,503...128,760,880
Ensembl chr 6:128,750,795...128,760,880
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive
ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
ClinVar Annotator: match by OMIM:205950
OMIM
ClinVar
PMID:19412178, PMID:21393332, PMID:25326635, PMID:25741868, PMID:25985931, PMID:28492532 NCBI chr 8:128,790,348...128,802,988
Ensembl chr 8:128,790,348...128,802,989
JBrowse link
autosomal recessive pyridoxine-refractory sideroblastic anemia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrx5 glutaredoxin 5 ISO ClinVar Annotator: match by term: Sideroblastic anemia 3, pyridoxine-refractory ClinVar
OMIM
PMID:17485548, PMID:20364084, PMID:25342667, PMID:26100117, PMID:30660387 NCBI chr 6:128,750,503...128,760,880
Ensembl chr 6:128,750,795...128,760,880
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 chr 7:130,446,644...130,452,632
Ensembl chr 7:130,446,668...130,451,283
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 OMIM:614675
ClinVar Annotator: match by term: Bone marrow failure syndrome 1
ClinVar
OMIM
PMID:22541560, PMID:25741868, PMID:28492532 NCBI chr14:33,447,583...33,453,788 JBrowse link
congenital hypoplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:26,657,507...26,680,459
Ensembl chr 6:26,657,780...26,680,284
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
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 LOC100361854 ribosomal protein S26-like ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715, PMID:19816270, PMID:23718193, PMID:24942156, PMID:28492532 NCBI chr  X:115,495,660...115,496,062
Ensembl chr  X:115,495,698...115,496,045
JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by OMIM:606164 OMIM
ClinVar
PMID:24942156 NCBI chr 7:18,682,071...18,683,440
Ensembl chr 7:18,682,071...18,683,440
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 chr  X:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639
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:28492532 NCBI chr10:55,744,646...55,756,524
Ensembl chr10:55,744,588...55,756,566
JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,773,748...55,783,489
Ensembl chr10:55,774,006...55,783,489
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,711,996...55,735,915
Ensembl chr10:55,712,043...55,735,911
JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,532,097...55,545,675
Ensembl chr10:55,532,077...55,544,429
JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,625,860...55,632,399
Ensembl chr10:55,626,741...55,634,991
JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,642,070...55,643,924
Ensembl chr10:55,642,070...55,643,923
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,943,467...55,970,417
Ensembl chr10:55,943,446...55,965,216
JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,901,929...55,927,121
Ensembl chr10:55,901,901...55,924,158
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,596,172...55,616,873
Ensembl chr10:55,596,148...55,616,889
JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,993,206...55,997,429
Ensembl chr10:55,995,823...55,997,299
JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985, PMID:19773262, PMID:20960466, PMID:23718193, PMID:25741868, PMID:28492532, PMID:28694211, PMID:28991257 NCBI chr14:2,789,699...2,860,354
Ensembl chr14:2,789,650...2,860,333
JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:56,029,022...56,154,602
Ensembl chr10:56,029,029...56,154,548
JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:56,161,431...56,168,819
Ensembl chr10:56,161,432...56,167,426
JBrowse link
G Flvcr1 FLVCR heme transporter 1 ISS 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 chr13:109,624,167...109,629,609
Ensembl chr13:109,578,074...109,629,482
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379, PMID:22706301, PMID:23704091, PMID:24453067, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:25492299 RGD:11352737 NCBI chr10:94,486,204...94,488,181
Ensembl chr10:94,486,205...94,488,180
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:15,225,645...15,240,458
Ensembl chr  X:15,225,645...15,240,329
JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,835,695...55,851,235
Ensembl chr10:55,835,695...55,851,235
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,704,485...55,710,523
Ensembl chr10:55,707,164...55,709,687
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:28492532 NCBI chr10:55,927,228...55,933,653
Ensembl chr10:55,927,223...55,933,653
JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:56,000,494...56,009,582
Ensembl chr10:56,001,799...56,008,885
JBrowse link
G Klf1 Kruppel like factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr19:26,016,289...26,019,557
Ensembl chr19:26,016,382...26,019,553
JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,997,614...55,998,691
Ensembl chr10:55,997,614...55,998,691
JBrowse link
G Odf4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,510,333...55,516,315
Ensembl chr10:55,510,340...55,515,885
JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,681,761...55,696,557
Ensembl chr10:55,687,050...55,695,994
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,571,881...55,593,384
Ensembl chr10:55,571,118...55,589,978
JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Aase-Smith syndrome II
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar PMID:25741868, PMID:27029625 NCBI chr16:717,821...756,002
Ensembl chr16:716,683...755,990
JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,559,049...55,560,420
Ensembl chr10:55,559,041...55,560,422
JBrowse link
G Rnf227 ring finger protein 227 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,940,533...55,941,205
Ensembl chr10:55,940,533...55,941,205
JBrowse link
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985, PMID:19773262, PMID:22689679, PMID:28492532 NCBI chr 5:154,390,809...154,394,412
Ensembl chr 5:154,388,140...154,394,328
JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,492,417...55,495,547
Ensembl chr10:55,492,404...55,496,012
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985, PMID:19773262, PMID:20960466, PMID:23718193, PMID:25741868, PMID:28492532, PMID:28694211, PMID:28991257 NCBI chr14:2,860,963...2,867,397
Ensembl chr14:2,860,965...2,867,397
JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20116044, PMID:20159986, PMID:23718193, PMID:28065601, PMID:28132843, PMID:28492532 NCBI chr20:7,215,762...7,220,331
Ensembl chr20:7,215,774...7,219,548
JBrowse link
G Rps17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17647292 NCBI chr 1:143,167,329...143,169,915
Ensembl chr 1:143,167,362...143,169,657
JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9988267, PMID:10590074, PMID:10598818, PMID:10753603, PMID:11112378, PMID:12586610, PMID:12750732, PMID:15059149, PMID:15075082, PMID:15384984, PMID:16159874, PMID:17053056, PMID:17082006, PMID:17517689, PMID:17726054, PMID:18412286, PMID:18768533, PMID:20378560, PMID:20395159, PMID:20603584, PMID:20606162, PMID:20960466, PMID:23349008, PMID:24952648, PMID:25946618, PMID:26136524, PMID:27329125, PMID:28102861, PMID:28376382, PMID:28492532, PMID:15523650, PMID:9988267 RGD:1599572, RGD:1599571 NCBI chr 1:81,750,873...81,756,629
Ensembl chr 1:81,750,928...81,756,627
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:17186470, PMID:19689926, PMID:25741868, PMID:27029625, PMID:28492532 NCBI chr16:757,390...762,091
Ensembl chr16:757,403...762,075
JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr 6:47,899,525...47,904,389
Ensembl chr 6:47,899,525...47,904,437
JBrowse link
G Rpsa ribosomal protein SA ISS OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909 MouseDO NCBI chr 8:128,806,053...128,809,987
Ensembl chr 8:128,806,129...128,809,986
JBrowse link
G Slc25a35 solute carrier family 25, member 35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,554,911...55,559,083
Ensembl chr10:55,555,089...55,559,082
JBrowse link
G Suv39h1 suppressor of variegation 3-9 homolog 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:146,532,002...146,533,538 JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,998,530...56,000,225
Ensembl chr10:55,998,530...56,000,225
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532, PMID:30146126 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Trappc1 trafficking protein particle complex 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,924,996...55,926,582
Ensembl chr10:55,924,938...55,926,783
JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:55,675,171...55,679,405
Ensembl chr10:55,675,575...55,679,450
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr  X:15,155,246...15,164,099
Ensembl chr  X:15,155,230...15,164,105
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:28492532 NCBI chr10:56,169,024...56,185,800
Ensembl chr10:56,169,025...56,185,857
JBrowse link
Diamond-Blackfan anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985, PMID:19773262, PMID:20960466, PMID:23718193, PMID:25741868, PMID:28492532 NCBI chr14:2,789,699...2,860,354
Ensembl chr14:2,789,650...2,860,333
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985, PMID:19773262, PMID:20960466, PMID:23718193, PMID:25741868, PMID:28492532 NCBI chr14:2,860,963...2,867,397
Ensembl chr14:2,860,965...2,867,397
JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar
OMIM
PMID:9988267, PMID:10590074, PMID:10598818, PMID:10753603, PMID:12586610, PMID:12750732, PMID:15384984, PMID:16159874, PMID:17053056, PMID:17082006, PMID:17517689, PMID:17726054, PMID:18412286, PMID:18768533, PMID:20378560, PMID:20395159, PMID:20606162, PMID:23812780, PMID:24033266, PMID:24952648, PMID:25741868, PMID:28102861, PMID:28492532 NCBI chr 1:81,750,873...81,756,629
Ensembl chr 1:81,750,928...81,756,627
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 chr 7:3,061,422...3,098,142
Ensembl chr 7:3,061,469...3,074,359
JBrowse link
G LOC100361854 ribosomal protein S26-like ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10
ClinVar Annotator: match by OMIM:613309
OMIM
ClinVar
PMID:17483715, PMID:19816270, PMID:20116044, PMID:21414820, PMID:23718193, PMID:23812780, PMID:24942156, PMID:25741868, PMID:26136524, PMID:28102861, PMID:28492532, PMID:29114930 NCBI chr  X:115,495,660...115,496,062
Ensembl chr  X:115,495,698...115,496,045
JBrowse link
Diamond-Blackfan anemia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by OMIM:614900 OMIM
ClinVar
PMID:22431104 NCBI chr10:55,492,417...55,495,547
Ensembl chr10:55,492,404...55,496,012
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 NCBI chr15:8,179,090...8,188,656
Ensembl chr15:8,179,102...8,183,682
JBrowse link
G Rpl15 ribosomal protein L15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12
ClinVar Annotator: match by OMIM:615550
OMIM
ClinVar
PMID:23812780, PMID:25741868 NCBI chr15:8,188,717...8,192,153
Ensembl chr15:8,189,253...8,192,152
JBrowse link
Diamond-Blackfan anemia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 ClinVar
OMIM
PMID:24829207, PMID:25741868, PMID:30311386 NCBI chr 6:91,455,333...91,456,709
Ensembl chr 6:91,455,333...91,456,696
Ensembl chr 3:91,455,333...91,456,696
Ensembl chr 7:91,455,333...91,456,696
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 NCBI chr  X:20,141,406...20,146,082
Ensembl chr  X:20,144,432...20,232,639
JBrowse link
Diamond-Blackfan anemia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl27 ribosomal protein L27 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 16 ClinVar
OMIM
PMID:25424902 NCBI chr10:89,352,864...89,356,563
Ensembl chr10:89,352,835...89,356,547
JBrowse link
Diamond-Blackfan anemia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 17 ClinVar
OMIM
PMID:25424902 NCBI chr 2:189,572,175...189,573,280
Ensembl chr 2:189,572,176...189,573,280
JBrowse link
Diamond-Blackfan anemia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl18 ribosomal protein L18 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 18 ClinVar
OMIM
PMID:28280134 NCBI chr 1:101,700,910...101,703,551
Ensembl chr 1:101,701,975...101,703,550
JBrowse link
Diamond-Blackfan anemia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl35 ribosomal protein L35 ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 19 ClinVar
OMIM
PMID:28280134 NCBI chr 3:23,294,813...23,297,774
Ensembl chr 3:23,294,814...23,297,774
JBrowse link
Diamond-Blackfan anemia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps15a ribosomal protein S15a ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 20 ClinVar
OMIM
PMID:27909223 NCBI chr 1:187,759,865...187,766,734
Ensembl chr 1:187,759,480...187,766,709
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 chr16:717,821...756,002
Ensembl chr16:716,683...755,990
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3
ClinVar Annotator: match by OMIM:610629
OMIM
ClinVar
PMID:17186470, PMID:23812780, PMID:25741868, PMID:26845104, PMID:28492532 NCBI chr16:757,390...762,091
Ensembl chr16:757,403...762,075
JBrowse link
Diamond-Blackfan anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps17 ribosomal protein S17 ISO ClinVar Annotator: match by OMIM:612527 OMIM
ClinVar
PMID:17647292, PMID:23718193, PMID:23812780 NCBI chr 1:143,167,329...143,169,915
Ensembl chr 1:143,167,362...143,169,657
JBrowse link
Diamond-Blackfan anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
ClinVar PMID:18535205, PMID:22262766, PMID:22689679, PMID:25741868, PMID:25946618, PMID:28492532 NCBI chr11:70,967,228...71,007,708
Ensembl chr11:70,967,223...71,105,403
JBrowse link
G Rpl35a ribosomal protein L35a ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
DNA:deletions, duplication:multiple (human)
DNA:deletions, snps:multiple (human)
ClinVar Annotator: match by OMIM:612528
OMIM
ClinVar
PMID:18535205, PMID:22262766, PMID:22689679, PMID:25741868, PMID:25946618, PMID:28492532, PMID:22689679, PMID:18535205 RGD:11535072, RGD:11535069 NCBI chr11:70,963,223...70,967,146
Ensembl chr12:7,186,473...7,186,873
Ensembl chr 5:7,186,473...7,186,873
Ensembl chr 1:7,186,473...7,186,873
Ensembl chr 6:7,186,473...7,186,873
Ensembl chr12:7,186,473...7,186,873
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, PMID:28991257 NCBI chr14:2,789,699...2,860,354
Ensembl chr14:2,789,650...2,860,333
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
DNA:mutations:multiple (human)
DNA:snps, deletions, insertions:exons, introns:multiple (human)
DNA:snp, insertion, deletion:exons:g.3G>T, g.37_38insT, g.473_474delAA (human)
DNA:insertion, nonsense mutation, deletion:cds:c.197_198insA, c.390C>G, c.169-172delAACA (human)
DNA:snps, duplication, deletions:exons:multiple (human)
OMIM
ClinVar
PMID:19061985, PMID:23718193, PMID:25741868, PMID:28492532, PMID:28991257, PMID:25946618, PMID:19061985, PMID:19773262, PMID:20378560, PMID:25132370, PMID:19191325 RGD:11535969, RGD:11535967, RGD:11535132, RGD:11535130, RGD:11535128, RGD:11535122 NCBI chr14:2,860,963...2,867,397
Ensembl chr14:2,860,965...2,867,397
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
DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human)
DNA:mutations:multiple (human)
DNA:deletions:exons:g.58_59delCT, g.460delA (human)
DNA:deletions, snp:exons, introns:multiple (human)
DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human)
OMIM
ClinVar
PMID:19061985, PMID:19773262, PMID:25741868, PMID:28492532, PMID:26489471, PMID:25946618, PMID:19061985, PMID:20378560, PMID:19773262, PMID:19191325 RGD:11535971, RGD:11535969, RGD:11535967, RGD:11535130, RGD:11535132, RGD:11535122 NCBI chr 5:154,390,809...154,394,412
Ensembl chr 5:154,388,140...154,394,328
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 OMIM:612563
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8
ClinVar
OMIM
PMID:19061985, PMID:23718193, PMID:25741868, PMID:27882484, PMID:28492532 NCBI chr 6:47,899,525...47,904,389
Ensembl chr 6:47,899,525...47,904,437
JBrowse link
Diamond-Blackfan anemia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 9
ClinVar Annotator: match by OMIM:613308
OMIM
ClinVar
PMID:20116044, PMID:23718193, PMID:25741868, PMID:28492532 NCBI chr20:7,215,762...7,220,331
Ensembl chr20:7,215,774...7,219,548
JBrowse link
Diamond-Blackfan Anemia-Like term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epo erythropoietin ISO ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA-LIKE ClinVar
OMIM
PMID:28283061 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
Fanconi anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:1574115, PMID:1641028, PMID:8103176, PMID:8128956, PMID:8348157, PMID:8499901, PMID:8613549, PMID:8621788, PMID:8703809, PMID:8829660, PMID:08844212, PMID:8882868, PMID:9207444, PMID:9242535, PMID:9398857, PMID:11050007, PMID:12093742, PMID:12670332, PMID:12750283, PMID:14695169, PMID:15364573, PMID:15695377, PMID:16015582, PMID:17924555, PMID:20869034, PMID:21520333, PMID:22720145, PMID:23028338, PMID:23634996, PMID:24033266, PMID:24469828, PMID:24584348, PMID:24728327, PMID:25741868, PMID:26466335, PMID:26681312, PMID:26689913, PMID:26740942, PMID:26822237, PMID:28425259, PMID:28492532, PMID:28767289, PMID:29753700, PMID:29922827, PMID:30031030, PMID:30967997, PMID:32566746 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Brca2 BRCA2, DNA repair associated susceptibility ISO DNA:mutation
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:9971877, PMID:11030417, PMID:11185744, PMID:12491487, PMID:12955716, PMID:12960223, PMID:15026808, PMID:15070707, PMID:15635067, PMID:15645491, PMID:15876480, PMID:16825431, PMID:17924331, PMID:17972177, PMID:18284688, PMID:18431501, PMID:18627636, PMID:18779604, PMID:19043619, PMID:20104584, PMID:20127978, PMID:20927582, PMID:21120943, PMID:21218378, PMID:21523855, PMID:21548014, PMID:21702907, PMID:21719596, PMID:21990134, PMID:22009639, PMID:22034289, PMID:22126563, PMID:22228431, PMID:22293751, PMID:22486713, PMID:22874498, PMID:23555315, PMID:23704879, PMID:23893897, PMID:24033266, PMID:24055113, PMID:24123850, PMID:24728327, PMID:25085752, PMID:25525159, PMID:25637381, PMID:25682074, PMID:25741868, PMID:26295337, PMID:26296701, PMID:26467025, PMID:26689913, PMID:26834852, PMID:26920070, PMID:27376475, PMID:28222693, PMID:28492532, PMID:28831036, PMID:29394989, PMID:29753700, PMID:29884841, PMID:30254663, PMID:31131967, PMID:12065746 RGD:734658 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
JBrowse link
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
CTD
ClinVar
PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:17033622, PMID:19127258, PMID:19763819, PMID:20177395, PMID:20639400, PMID:21165771, PMID:21345144, PMID:21964575, PMID:22006311, PMID:24240112, PMID:24556621, PMID:25741868, PMID:25980754, PMID:26315354, PMID:26467025, PMID:26681312, PMID:26822949, PMID:26845104, PMID:26921362, PMID:26968956, PMID:27179029, PMID:28492532, PMID:29368626 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
JBrowse link
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 4:145,559,206...145,574,438
Ensembl chr 4:145,559,206...145,574,438
JBrowse link
G Fanca FA complementation group A disease_progression ISO ClinVar Annotator: match by OMIM:227650
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia, complementation group A
CTD Direct Evidence: marker/mechanism
DNA:deletions, transitions:exon, intron:multiple
DNA:missense mutations, splice-site mutations:exon, intron:multiple
ClinVar
CTD
PMID:1792455, PMID:2472832, PMID:8502512, PMID:08896563, PMID:09371798, PMID:09399890, PMID:9711872, PMID:9721219, PMID:9806548, PMID:9929978, PMID:10090479, PMID:10094191, PMID:10431244, PMID:10521298, PMID:10807541, PMID:11050007, PMID:11063725, PMID:11091222, PMID:11093276, PMID:11344308, PMID:11389461, PMID:11739169, PMID:12031647, PMID:12444097, PMID:12697994, PMID:12955722, PMID:14695169, PMID:15059067, PMID:15383454, PMID:15516848, PMID:15523645, PMID:15591268, PMID:15609317, PMID:15643609, PMID:16015582, PMID:16084127, PMID:16116422, PMID:16397136, PMID:16445838, PMID:16611311, PMID:16720839, PMID:16774934, PMID:16946016, PMID:17726045, PMID:17924555, PMID:18414213, PMID:19278965, PMID:19367192, PMID:19423727, PMID:21273304, PMID:21279724, PMID:21519011, PMID:21520333, PMID:21568838, PMID:21659346, PMID:22482891, PMID:22720145, PMID:22778927, PMID:22950077, PMID:23021409, PMID:23067021, PMID:23613520, PMID:23806870, PMID:23898106, PMID:23934222, PMID:23973728, PMID:24037726, PMID:24082139, PMID:24349332, PMID:24584348, PMID:24689079, PMID:24704046, PMID:24728327, PMID:24989076, PMID:25239263, PMID:25525159, PMID:25533962, PMID:25583207, PMID:25703136, PMID:25741868, PMID:25751062, PMID:26136524, PMID:26181256, PMID:26296701, PMID:26492932, PMID:26689913, PMID:26740942, PMID:26799702, PMID:26841305, PMID:27041517, PMID:27701467, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28600779, PMID:28678401, PMID:28687356, PMID:28717661, PMID:28767289, PMID:28864460, PMID:28973083, PMID:29093742, PMID:29098742, PMID:29269525, PMID:29797310, PMID:29904161, PMID:30031030, PMID:30032139, PMID:30086788, PMID:30311386, PMID:12827451, PMID:11110674, PMID:15523645 RGD:11344919, RGD:11344914, RGD:11344899 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
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's anemia
CTD Direct Evidence: marker/mechanism
DNA:deletion: :322delG (human)
DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human)
ClinVar
CTD
PMID:1574115, PMID:1641028, PMID:7492758, PMID:7689011, PMID:8081385, PMID:8103176, PMID:8128956, PMID:08348157, PMID:8499901, PMID:8613549, PMID:8621788, PMID:8639804, PMID:8703809, PMID:8829660, PMID:08844212, PMID:8882868, PMID:9207444, PMID:9242535, PMID:9398857, PMID:09452030, PMID:9521584, PMID:09616183, PMID:10666230, PMID:11050007, PMID:11110674, PMID:11427142, PMID:11520787, PMID:12093742, PMID:12670332, PMID:12750283, PMID:14695169, PMID:14726700, PMID:15364573, PMID:15516848, PMID:15695377, PMID:16015582, PMID:16429406, PMID:17909071, PMID:17924555, PMID:19622403, PMID:20301575, PMID:20507306, PMID:20509860, PMID:20869034, PMID:21520333, PMID:21659346, PMID:22482891, PMID:22701786, PMID:22720145, PMID:22778927, PMID:23028338, PMID:23613520, PMID:23634996, PMID:24033266, PMID:24469828, PMID:24584348, PMID:24728327, PMID:25168418, PMID:25741868, PMID:25801821, PMID:26466335, PMID:26681312, PMID:26689913, PMID:26740942, PMID:26778106, PMID:26822237, PMID:26990548, PMID:27133164, PMID:27153395, PMID:27577878, PMID:28125075, PMID:28125078, PMID:28259476, PMID:28425259, PMID:28492532, PMID:28678401, PMID:28717661, PMID:28767289, PMID:29038235, PMID:29439820, PMID:29753700, PMID:29922827, PMID:30031030, PMID:30967997, PMID:31300551, PMID:32566746, PMID:11110674, PMID:16429406 RGD:11344914, RGD:11041907 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Fancd2 FA complementation group D2 ISO DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11239453, PMID:14667412, PMID:17308347, PMID:17436244, PMID:21356188, PMID:22720145, PMID:22828868, PMID:23613520, PMID:24033266, PMID:24728327, PMID:25703294, PMID:25741868, PMID:27041517, PMID:28202063, PMID:28492532, PMID:28678401, PMID:11239453, PMID:19287902 RGD:1601137, RGD:11344904 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 4:145,549,248...145,556,054
Ensembl chr 4:145,552,270...145,555,748
JBrowse link
G Fance FA complementation group E ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar NCBI chr20:7,888,927...7,906,142
Ensembl chr20:7,895,083...7,906,142
JBrowse link
G Fancf FA complementation group F ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:9382107, PMID:10615118, PMID:15262960, PMID:16084127, PMID:17924555, PMID:24728327, PMID:25741868, PMID:26033879, PMID:27714961, PMID:28102861, PMID:28492532 NCBI chr 1:107,229,516...107,232,321
Ensembl chr 1:107,231,292...107,232,305
JBrowse link
G Fancg FA complementation group G ISO FANCG, OMIM:602956
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar
CTD
PMID:9806458, PMID:09806548, PMID:10807541, PMID:10961856, PMID:11093276, PMID:11126723, PMID:11438206, PMID:12552564, PMID:12673805, PMID:15657175, PMID:16084127, PMID:16643430, PMID:17924555, PMID:20301575, PMID:22778927, PMID:23613520, PMID:24033266, PMID:24136620, PMID:24584348, PMID:24728327, PMID:25703136, PMID:25741868, PMID:26689913, PMID:26968956, PMID:27041517, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28717661, PMID:30031030, PMID:9806548 RGD:1599879 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
DNA:mutations: :multiple
ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17452773, PMID:17460694, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:22720145, PMID:23613520, PMID:23783014, PMID:24033266, PMID:24989076, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26296701, PMID:26467025, PMID:26590883, PMID:28492532, PMID:28678401, PMID:28878254, PMID:29439820, PMID:26590883 RGD:11344925 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12973351, PMID:19405097, PMID:21279724, PMID:23613520, PMID:24033266, PMID:25239263, PMID:25659033, PMID:25741868, PMID:26149689, PMID:26822237, PMID:26822949, PMID:27153395, PMID:27986371, PMID:28492532, PMID:29335925, PMID:30995915, PMID:31300551 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2867840, PMID:16116422, PMID:17289582, PMID:18174376, PMID:18414213, PMID:19379763, PMID:19737859, PMID:19763152, PMID:20307669, PMID:21681190, PMID:22406018, PMID:23932590, PMID:24003026, PMID:25288723, PMID:25741868, PMID:26067930, PMID:26094658, PMID:26130695, PMID:26296701, PMID:26483394, PMID:26689913, PMID:26740942, PMID:26822949, PMID:28033443, PMID:28492532, PMID:28678401, PMID:28702895, PMID:28837157, PMID:28837162, PMID:28881617, PMID:29231814, PMID:29287190, PMID:29351780, PMID:29895858, PMID:30075111, PMID:30426508, PMID:30995915, PMID:31700994, PMID:32566746 NCBI chr 6:86,823,195...86,877,067
Ensembl chr 6:86,823,684...86,876,633
JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 1:101,126,006...101,131,413
Ensembl chr 1:101,124,479...101,131,413
JBrowse link
G Gstm1 glutathione S-transferase mu 1 disease_progression ISO RGD PMID:16173971 RGD:10450839 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 treatment ISO RGD PMID:16173971 RGD:10450839 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
JBrowse link
G Ifng interferon gamma ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il10 interleukin 10 ISO protein:increased expression:plasma RGD PMID:24021704 RGD:11049161 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219, PMID:28492532, PMID:29098742 NCBI chr19:56,215,420...56,219,987 JBrowse link
G Mx2 MX dynamin like GTPase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9389754 NCBI chr11:38,035,306...38,066,185
Ensembl chr11:38,035,450...38,059,950
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:17200668, PMID:18302019, PMID:25741868, PMID:26467025, PMID:26564480, PMID:28492532 NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
ClinVar PMID:15477547, PMID:16177225, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:28492532 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
G Prf1 perforin 1 ISO RGD PMID:21542827 RGD:6482802 NCBI chr20:30,915,294...30,920,804
Ensembl chr20:30,915,213...30,921,382
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Rad51c RAD51 paralog C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fanconi anemia
ClinVar Annotator: match by term: Fanconi's anemia
CTD
ClinVar
PMID:20400963, PMID:20400964, PMID:20697805, PMID:20723205, PMID:21537932, PMID:21750962, PMID:21980511, PMID:21990120, PMID:22167183, PMID:22370629, PMID:22451500, PMID:22476429, PMID:22725699, PMID:23117857, PMID:24082139, PMID:24504028, PMID:25086635, PMID:25470109, PMID:25741868, PMID:26057125, PMID:26261251, PMID:26406419, PMID:26467025, PMID:26483394, PMID:26740214, PMID:27153395, PMID:28492532 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:19596235, PMID:19596236, PMID:21240275, PMID:21240276, PMID:21240277, PMID:21805310, PMID:22383991, PMID:22401137, PMID:22911665, PMID:23211700, PMID:23840564, PMID:24037726, PMID:24763404, PMID:25288723, PMID:25326635, PMID:25741868, PMID:26201965, PMID:26824983, PMID:28125078, PMID:28202063, PMID:28492532, PMID:28678401, PMID:28717660, PMID:29868112 NCBI chr10:11,787,756...11,808,326
Ensembl chr10:11,786,121...11,807,928
JBrowse link
G Spire2 spire-type actin nucleation factor 2 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219, PMID:28492532, PMID:29098742 NCBI chr19:56,136,904...56,175,500
Ensembl chr19:56,136,904...56,175,500
JBrowse link
G Tcf25 transcription factor 25 ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:9721219, PMID:28492532, PMID:29098742 NCBI chr19:56,178,905...56,213,299
Ensembl chr19:56,179,111...56,213,310
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma
CTD Direct Evidence: marker/mechanism
CTD PMID:22628295, PMID:8438880, PMID:24021704 RGD:10450524, RGD:11049161 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Usp1 ubiquitin specific peptidase 1 ISS MouseDO NCBI chr 5:117,583,502...117,594,872
Ensembl chr 5:117,583,502...117,594,870
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Fanconi anemia ClinVar PMID:28492532 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
G Vrk2 VRK serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:19405097, PMID:21279724, PMID:23613520, PMID:24033266, PMID:25239263, PMID:25659033, PMID:25741868, PMID:26822237, PMID:26822949, PMID:27153395, PMID:28492532 NCBI chr14:110,739,835...110,883,836
Ensembl chr14:110,739,226...110,883,803
JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Fanconi's anemia
ClinVar Annotator: match by term: Fanconi anemia
ClinVar PMID:9371798, PMID:9721219, PMID:10090479, PMID:10094191, PMID:10521298, PMID:11091222, PMID:12444097, PMID:15059067, PMID:15523645, PMID:15643609, PMID:16084127, PMID:17924555, PMID:18414213, PMID:19278965, PMID:19367192, PMID:21273304, PMID:23021409, PMID:23613520, PMID:23973728, PMID:24037726, PMID:24584348, PMID:24728327, PMID:25741868, PMID:26296701, PMID:26689913, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28717661, PMID:28767289, PMID:29098742, PMID:29904161, PMID:30032139 NCBI chr19:56,054,250...56,067,767
Ensembl chr19:56,054,212...56,067,581
JBrowse link
Fanconi anemia complementation group A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:08844212, PMID:12670332, PMID:15695377, PMID:24728327, PMID:25741868, PMID:26689913, PMID:28492532, PMID:30031030, PMID:32566746 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
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, PMID:17574969, PMID:17924331, PMID:19200354, PMID:19563646, PMID:20516115, PMID:21324516, PMID:21356067, PMID:21473589, PMID:21702907, PMID:21965345, PMID:21990134, PMID:22889855, PMID:23867111, PMID:24055113, PMID:24569164, PMID:25472942, PMID:25741868, PMID:26467025, PMID:28265380, PMID:28324225, PMID:28477318, PMID:28492532, PMID:28724667, PMID:28831036, PMID:29712865, PMID:30103829 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Fanca FA complementation group A ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar
OMIM
PMID:1792455, PMID:2339692, PMID:2472832, PMID:8502512, PMID:08896563, PMID:08896564, PMID:9371798, PMID:09399890, PMID:9711872, PMID:09721219, PMID:9806548, PMID:9929978, PMID:10090479, PMID:10094191, PMID:10431244, PMID:10521298, PMID:10807541, PMID:10862090, PMID:11050007, PMID:11063725, PMID:11091222, PMID:11093276, PMID:11344308, PMID:11389461, PMID:11739169, PMID:12031647, PMID:12444097, PMID:12697994, PMID:12827451, PMID:12955722, PMID:14695169, PMID:15059067, PMID:15383454, PMID:15516848, PMID:15522956, PMID:15523645, PMID:15591268, PMID:15609317, PMID:15643609, PMID:16084127, PMID:16116422, PMID:16397136, PMID:16611311, PMID:16720839, PMID:16774934, PMID:16946016, PMID:17327415, PMID:17726045, PMID:17924555, PMID:18414213, PMID:19109555, PMID:19139070, PMID:19278965, PMID:19367192, PMID:19423727, PMID:20435624, PMID:21273304, PMID:21519011, PMID:21520333, PMID:21568838, PMID:21659346, PMID:22778927, PMID:22950077, PMID:23021409, PMID:23067021, PMID:23613520, PMID:23806870, PMID:23898106, PMID:23934222, PMID:23973728, PMID:24037726, PMID:24082139, PMID:24349332, PMID:24584348, PMID:24704046, PMID:24728327, PMID:24989076, PMID:25168418, PMID:25239263, PMID:25288723, PMID:25525159, PMID:25533962, PMID:25583207, PMID:25741868, PMID:25751062, PMID:25953249, PMID:26136524, PMID:26140431, PMID:26181256, PMID:26296701, PMID:26492932, PMID:26580448, PMID:26689913, PMID:26740942, PMID:26799702, PMID:27041517, PMID:27701467, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28600779, PMID:28678401, PMID:28717661, PMID:28767289, PMID:28864460, PMID:28973083, PMID:29093742, PMID:29098742, PMID:29269525, PMID:29904161, PMID:30032139, PMID:30086788, PMID:30311386 NCBI chr19:56,067,548...56,126,075
Ensembl chr19:56,067,548...56,126,063
JBrowse link
G Fancb FA complementation group B ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:25741868, PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
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, PMID:09616183, PMID:12670332, PMID:14695169, PMID:14726700, PMID:15695377, PMID:23028338, PMID:24033266, PMID:24728327, PMID:25741868, PMID:26689913, PMID:26740942, PMID:27153395, PMID:28492532, PMID:28767289, PMID:30031030, PMID:32566746 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:24728327, PMID:25168418, PMID:25741868, PMID:28492532 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar NCBI chr 4:145,549,248...145,556,054
Ensembl chr 4:145,552,270...145,555,748
JBrowse link
G Fancg FA complementation group G ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:28492532 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
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 chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
JBrowse link
G Fancl FA complementation group L ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:19405097, PMID:21279724, PMID:25741868, PMID:26822237, PMID:26822949, PMID:28492532 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
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, PMID:25288723, PMID:25741868, PMID:28492532, PMID:28837162, PMID:29231814, PMID:29351780, PMID:30075111, PMID:31700994 NCBI chr 6:86,823,195...86,877,067
Ensembl chr 6:86,823,684...86,876,633
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, PMID:26201965, PMID:28202063, PMID:28492532, PMID:28717660 NCBI chr10:11,787,756...11,808,326
Ensembl chr10:11,786,121...11,807,928
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, PMID:28492532 NCBI chr14:110,739,835...110,883,836
Ensembl chr14:110,739,226...110,883,803
JBrowse link
G Zfp276 zinc finger protein (C2H2 type) 276 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group A ClinVar PMID:9371798, PMID:09399890, PMID:09721219, PMID:10090479, PMID:10094191, PMID:10521298, PMID:11091222, PMID:12444097, PMID:12955722, PMID:15059067, PMID:15522956, PMID:15523645, PMID:15643609, PMID:16084127, PMID:17924555, PMID:18414213, PMID:19109555, PMID:19139070, PMID:19278965, PMID:19367192, PMID:21273304, PMID:22778927, PMID:23021409, PMID:23613520, PMID:23973728, PMID:24037726, PMID:24584348, PMID:24728327, PMID:25168418, PMID:25741868, PMID:26296701, PMID:26689913, PMID:27041517, PMID:28102861, PMID:28202063, PMID:28492532, PMID:28717661, PMID:28767289, PMID:28864460, PMID:29098742, PMID:29904161, PMID:30032139 NCBI chr19:56,054,250...56,067,767
Ensembl chr19:56,054,212...56,067,581
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 anemia, complementation group B
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:8368240, PMID:15502827, PMID:16679491, PMID:17924555, PMID:21910217, PMID:23613520, PMID:24033266, PMID:25168418, PMID:25741868, PMID:28492532 NCBI chr  X:31,124,018...31,140,790
Ensembl chr  X:31,124,018...31,140,711
JBrowse link
Fanconi anemia complementation group C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group C ClinVar PMID:1574115, PMID:1641028, PMID:8103176, PMID:8128956, PMID:8348157, PMID:8499901, PMID:8613549, PMID:8621788, PMID:8703809, PMID:8829660, PMID:08844212, PMID:8882868, PMID:9207444, PMID:9242535, PMID:9398857, PMID:10431244, PMID:11050007, PMID:12093742, PMID:12670332, PMID:14695169, PMID:15364573, PMID:15695377, PMID:16015582, PMID:16429406, PMID:17924555, PMID:19278965, PMID:20869034, PMID:22720145, PMID:22778927, PMID:23028338, PMID:23634996, PMID:24033266, PMID:24469828, PMID:24584348, PMID:24728327, PMID:25741868, PMID:26466335, PMID:26681312, PMID:26689913, PMID:26740942, PMID:26822237, PMID:28425259, PMID:28492532, PMID:28767289, PMID:29753700, PMID:29922827, PMID:30031030, PMID:30967997 NCBI chr17:507,389...825,062
Ensembl chr17:507,377...821,582
JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group C
ClinVar Annotator: match by OMIM:227645
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:1574115, PMID:1641028, PMID:7492758, PMID:7689011, PMID:8081385, PMID:8103176, PMID:8128956, PMID:08348157, PMID:8499901, PMID:8613549, PMID:8621788, PMID:8639804, PMID:8703809, PMID:8829660, PMID:08844212, PMID:8882868, PMID:9207444, PMID:9242535, PMID:9398857, PMID:09452030, PMID:9521584, PMID:09616183, PMID:10431244, PMID:10666230, PMID:10994546, PMID:11050007, PMID:11110674, PMID:11427142, PMID:11520787, PMID:12093742, PMID:12670332, PMID:14695169, PMID:14726700, PMID:15364573, PMID:15516848, PMID:15695377, PMID:16015582, PMID:16429406, PMID:17909071, PMID:17924555, PMID:19278965, PMID:19622403, PMID:20301575, PMID:20507306, PMID:20509860, PMID:20869034, PMID:21659346, PMID:22701786, PMID:22720145, PMID:22778927, PMID:23028338, PMID:23613520, PMID:23634996, PMID:23934222, PMID:24033266, PMID:24469828, PMID:24584348, PMID:24728327, PMID:25168418, PMID:25741868, PMID:25801821, PMID:26466335, PMID:26681312, PMID:26689913, PMID:26740942, PMID:26778106, PMID:26822237, PMID:26990548, PMID:27133164, PMID:27153395, PMID:27577878, PMID:28125075, PMID:28125078, PMID:28259476, PMID:28425259, PMID:28492532, PMID:28678401, PMID:28717661, PMID:28767289, PMID:29038235, PMID:29439820, PMID:29753700, PMID:29922827, PMID:30031030, PMID:30967997, PMID:31300551 NCBI chr17:826,512...955,703
Ensembl chr17:833,509...955,615
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 Annotator: match by null
OMIM
ClinVar
PMID:18, PMID:1234, PMID:1232165, PMID:1517275, PMID:1684755, PMID:1843150, PMID:1990134, PMID:2073695, PMID:2199013, PMID:2928257, PMID:3108138, PMID:4055113, PMID:7924331, PMID:8075631, PMID:8415037, PMID:8524414, PMID:8640236, PMID:8673090, PMID:8673091, PMID:8673092, PMID:8705994, PMID:8758903, PMID:8840963, PMID:8841191, PMID:8841192, PMID:8896551, PMID:9042907, PMID:9042909, PMID:9126734, PMID:9145676, PMID:9150152, PMID:9150154, PMID:9150172, PMID:9667259, PMID:9758598, PMID:9761393, PMID:9771877, PMID:9792861, PMID:9971877, PMID:10359546, PMID:10399947, PMID:10417300, PMID:10433620, PMID:10449599, PMID:10453741, PMID:10464609, PMID:10534775, PMID:10551859, PMID:10570174, PMID:10644434, PMID:10699917, PMID:10717622, PMID:10728701, PMID:10755399, PMID:10800284, PMID:10882858, PMID:10923033, PMID:10969800, PMID:10978364, PMID:11030417, PMID:11030418, PMID:11062481, PMID:11106241, PMID:11149425, PMID:11180449, PMID:11185744, PMID:11241844, PMID:11304778, PMID:11307153, PMID:11389159, PMID:11400546, PMID:11447276, PMID:11556836, PMID:11595708, PMID:11698567, PMID:11710835, PMID:11802209, PMID:11843247, PMID:11873550, PMID:11927503, PMID:11929857, PMID:11948123, PMID:11950811, PMID:12065746, PMID:12097257, PMID:12097290, PMID:12100744, PMID:12161607, PMID:12204006, PMID:12215251, PMID:12228710, PMID:12237285, PMID:12373604, PMID:12442171, PMID:12442274, PMID:12453858, PMID:12473589, PMID:12474142, PMID:12491487, PMID:12491499, PMID:12527904, PMID:12552570, PMID:12556369, PMID:12624724, PMID:12670525, PMID:12684407, PMID:12750298, PMID:12754708, PMID:12759930, PMID:12815053, PMID:12845657, PMID:12942367, PMID:12955716, PMID:12955719, PMID:12960223, PMID:14555511, PMID:14559878, PMID:14576434, PMID:14647210, PMID:14647438, PMID:14670928, PMID:14684619, PMID:14732925, PMID:14973102, PMID:15004464, PMID:15026808, PMID:15070707, PMID:15115758, PMID:15117986, PMID:15131399, PMID:15146557, PMID:15168169, PMID:15172753, PMID:15235023, PMID:15290653, PMID:15317758, PMID:15365993, PMID:15382066, PMID:15533909, PMID:15617999, PMID:15635067, PMID:15645491, PMID:15689453, PMID:15695382, PMID:15744044, PMID:15799620, PMID:15800311, PMID:15800615, PMID:15806175, PMID:15876480, PMID:15918047, PMID:15955690, PMID:15983021, PMID:15994883, PMID:16030099, PMID:16047333, PMID:16115142, PMID:16162645, PMID:16168118, PMID:16168123, PMID:16234499, PMID:16261408, PMID:16284991, PMID:16389418, PMID:16455195, PMID:16489001, PMID:16550498, PMID:16683254, PMID:16685647, PMID:16741161, PMID:16758124, PMID:16760289, PMID:16792514, PMID:16825431, PMID:16826315, PMID:16847550, PMID:16905680, PMID:16912212, PMID:16920162, PMID:16931905, PMID:16949048, PMID:17018160, PMID:17026620, PMID:17087817, PMID:17100994, PMID:17148771, PMID:17233897, PMID:17250666, PMID:17257844, PMID:17262179, PMID:17289875, PMID:17308087, PMID:17333343, PMID:17341484, PMID:17453335, PMID:17503080, PMID:17513806, PMID:17515903, PMID:17591843, PMID:17591940, PMID:17592676, PMID:17624602, PMID:17657584, PMID:17686308, PMID:17724471, PMID:17767707, PMID:17899372, PMID:17924331, PMID:17925560, PMID:17971607, PMID:17972177, PMID:17997147, PMID:18006916, PMID:18042939, PMID:18092194, PMID:18176857, PMID:18268356, PMID:18284688, PMID:18312450, PMID:18375895, PMID:18403564, PMID:18418466, PMID:18431501, PMID:18451181, PMID:18465347, PMID:18489799, PMID:18497862, PMID:18559594, PMID:18593900, PMID:18607349, PMID:18627636, PMID:18627637, PMID:18693280, PMID:18703817, PMID:18724707, PMID:18779604, PMID:18824701, PMID:18844490, PMID:18951449, PMID:18951461, PMID:19016756, PMID:19030985, PMID:19043619, PMID:19188187, PMID:19200354, PMID:19229607, PMID:19393826, PMID:19471317, PMID:19473207, PMID:19491284, PMID:19499246, PMID:19540122, PMID:19619314, PMID:19656415, PMID:19747923, PMID:19795481, PMID:19799798, PMID:19861517, PMID:19863560, PMID:19941162, PMID:20010525, PMID:20041885, PMID:20054658, PMID:20104584, PMID:20127978, PMID:20135345, PMID:20167696, PMID:20195775, PMID:20215541, PMID:20216074, PMID:20301425, PMID:20380699, PMID:20383589, PMID:20589654, PMID:20608899, PMID:20614180, PMID:20683152, PMID:20694749, PMID:20736950, PMID:20858050, PMID:20887823, PMID:20927582, PMID:20960228, PMID:21042765, PMID:21120943, PMID:21156238, PMID:21203900, PMID:21218378, PMID:21232165, PMID:21233401, PMID:21279724, PMID:21324516, PMID:21356067, PMID:21394826, PMID:21465317, PMID:21497495, PMID:21520273, PMID:21520333, PMID:21548014, PMID:21638052, PMID:21671020, PMID:21673748, PMID:21702907, PMID:21719596, PMID:21769658, PMID:21789034, PMID:21939546, PMID:21952622, PMID:21965345, PMID:21990134, PMID:21990165, PMID:22006311, PMID:22009639, PMID:22034289, PMID:22126563, PMID:22144684, PMID:22160602, PMID:22217648, PMID:22366370, PMID:22425665, PMID:22430266, PMID:22460208, PMID:22476429, PMID:22486713, PMID:22505045, PMID:22535016, PMID:22632462, PMID:22655046, PMID:22666503, PMID:22678057, PMID:22684231, PMID:22703879, PMID:22711857, PMID:22713736, PMID:22720145, PMID:22729890, PMID:22752604, PMID:22753899, PMID:22762150, PMID:22798144, PMID:22811390, PMID:22848303, PMID:22874498, PMID:22875147, PMID:22913592, PMID:22921157, PMID:22921312, PMID:22923021, PMID:22962691, PMID:22970155, PMID:22977638, PMID:22995991, PMID:23071527, PMID:23096105, PMID:23096355, PMID:23108138, PMID:23199084, PMID:23231788, PMID:23249957, PMID:23318356, PMID:23320992, PMID:23328489, PMID:23341105, PMID:23415752, PMID:23469205, PMID:23479189, PMID:23531862, PMID:23535729, PMID:23555315, PMID:23593081, PMID:23621881, PMID:23633455, PMID:23635950, PMID:23658460, PMID:23683081, PMID:23704879, PMID:23729402, PMID:23767878, PMID:23884708, PMID:23893897, PMID:23929434, PMID:23940062, PMID:23942203, PMID:23960188, PMID:23983145, PMID:24033266, PMID:24055113, PMID:24082139, PMID:24094589, PMID:24123850, PMID:24156927, PMID:24301060, PMID:24312913, PMID:24323938, PMID:24337145, PMID:24348212, PMID:24372583, PMID:24448499, PMID:24489791, PMID:24504028, PMID:24556621, PMID:24607278, PMID:24618965, PMID:24728189, PMID:24728327, PMID:24737347, PMID:24814045, PMID:24817641, PMID:24884479, PMID:24916970, PMID:25011685, PMID:25066507, PMID:25085752, PMID:25136594, PMID:25146914, PMID:25186627, PMID:25203624, PMID:25233892, PMID:25348012, PMID:25382762, PMID:25395318, PMID:25452441, PMID:25479140, PMID:25525159, PMID:25556971, PMID:25569433, PMID:25637381, PMID:25682074, PMID:25741868, PMID:25777348, PMID:25782689, PMID:25801821, PMID:25802882, PMID:25863477, PMID:25896959, PMID:25948282, PMID:25980754, PMID:26064523, PMID:26155992, PMID:26183948, PMID:26187060, PMID:26207792, PMID:26287763, PMID:26295337, PMID:26296701, PMID:26306726, PMID:26315209, PMID:26332594, PMID:26440929, PMID:26455428, PMID:26467025, PMID:26483394, PMID:26517685, PMID:26541979, PMID:26577449, PMID:26580448, PMID:26586665, PMID:26657402, PMID:26681312, PMID:26681682, PMID:26689913, PMID:26692440, PMID:26709275, PMID:26724258, PMID:26740942, PMID:26761715, PMID:26780556, PMID:26834852, PMID:26845104, PMID:26848529, PMID:26867194, PMID:26898890, PMID:26920070, PMID:26968956, PMID:27062684, PMID:27124784, PMID:27153395, PMID:27257965, PMID:27376475, PMID:27383479, PMID:27393621, PMID:27469594, PMID:27495310, PMID:27498913, PMID:27516001, PMID:27616075, PMID:27628236, PMID:27633797, PMID:27658390, PMID:27701467, PMID:27732944, PMID:27741520, PMID:27767231, PMID:27831900, PMID:27907908, PMID:28008555, PMID:28111427, PMID:28132688, PMID:28152038, PMID:28222693, PMID:28231738, PMID:28288110, PMID:28294317, PMID:28301460, PMID:28324225, PMID:28339459, PMID:28346442, PMID:28364669, PMID:28422718, PMID:28439188, PMID:28477318, PMID:28492532, PMID:28541631, PMID:28640387, PMID:28664449, PMID:28678401, PMID:28724667, PMID:28726806, PMID:28767289, PMID:28807866, PMID:28814288, PMID:28831036, PMID:28843361, PMID:28975465, PMID:28993434, PMID:29020732, PMID:29084914, PMID:29088781, PMID:29126202, PMID:29192238, PMID:29215753, PMID:29240602, PMID:29288066, PMID:29321669, PMID:29339979, PMID:29368341, PMID:29394989, PMID:29433453, PMID:29446198, PMID:29470806, PMID:29492181, PMID:29580235, PMID:29642553, PMID:29667044, PMID:29731985, PMID:29752822, PMID:29753700, PMID:29802286, PMID:29854292, PMID:29884841, PMID:29907814, PMID:29988080, PMID:30093976, PMID:30199306, PMID:30207912, PMID:30212499, PMID:30254663, PMID:30286154, PMID:30287823, PMID:30311386, PMID:30350268, PMID:30400234, PMID:30472649, PMID:30606148, PMID:30702160, PMID:30825404, PMID:31131967, PMID:32438681 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748
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
ClinVar Annotator: match by OMIM:227646
OMIM
ClinVar
PMID:11239453, PMID:16280053, PMID:17308347, PMID:17436244, PMID:21356188, PMID:22720145, PMID:22828868, PMID:23613520, PMID:24033266, PMID:24728327, PMID:25168418, PMID:25703294, PMID:25741868, PMID:27041517, PMID:28202063, PMID:28492532, PMID:32581362 NCBI chr 4:145,489,869...145,551,479
Ensembl chr 4:145,489,869...145,551,479
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, PMID:25741868, PMID:28492532, PMID:32581362 NCBI chr 4:145,549,248...145,556,054
Ensembl chr 4:145,552,270...145,555,748
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
ClinVar Annotator: match by OMIM:600901
OMIM
ClinVar
PMID:7662964, PMID:9382107, PMID:10205272, PMID:11001585, PMID:14695169, PMID:15609317, PMID:16774934, PMID:17308347, PMID:17924555, PMID:18271933, PMID:21279724, PMID:22778927, PMID:24033266, PMID:24728327, PMID:25058500, PMID:25741868, PMID:26822949, PMID:27165003, PMID:28492532, PMID:28678401, PMID:30311386, PMID:30609409 NCBI chr20:7,888,927...7,906,142
Ensembl chr20:7,895,083...7,906,142
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
ClinVar Annotator: match by OMIM:603467
OMIM
ClinVar
PMID:9382107, PMID:10615118, PMID:16084127, PMID:16774934, PMID:17924555, PMID:18271933, PMID:22778927, PMID:24033266, PMID:24728327, PMID:25741868, PMID:26033879, PMID:27714961, PMID:28102861, PMID:28492532 NCBI chr 1:107,229,516...107,232,321
Ensembl chr 1:107,231,292...107,232,305
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
ClinVar Annotator: match by OMIM:614082
OMIM
ClinVar
PMID:9806458, PMID:09806548, PMID:10807541, PMID:10961856, PMID:11093276, PMID:11126723, PMID:11438206, PMID:12552564, PMID:12673805, PMID:15657175, PMID:16084127, PMID:16643430, PMID:17924555, PMID:20301575, PMID:22778927, PMID:23613520, PMID:24136620, PMID:24300640, PMID:24728327, PMID:24763404, PMID:25703136, PMID:25741868, PMID:26968956, PMID:28102861, PMID:28492532, PMID:28717661, PMID:30031030 NCBI chr 5:58,448,060...58,456,416
Ensembl chr 5:58,448,822...58,455,819
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group G ClinVar PMID:11438206, PMID:16643430, PMID:24728327, PMID:25741868, PMID:28492532 NCBI chr 5:58,426,548...58,445,953
Ensembl chr 5:58,426,549...58,445,953
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
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609053
OMIM
ClinVar
PMID:17412408, PMID:17452773, PMID:17460694, PMID:17924555, PMID:18414213, PMID:18931676, PMID:21324748, PMID:22720145, PMID:22778927, PMID:23093618, PMID:23524600, PMID:23613520, PMID:24989076, PMID:25741868, PMID:26296701, PMID:26467025, PMID:26590883, PMID:27987238, PMID:28492532, PMID:28678401, PMID:28878254, PMID:29439820, PMID:17452773 RGD:11344924 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
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, PMID:27987238, PMID:28492532 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
Fanconi anemia complementation group J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brip1 BRCA1 interacting protein C-terminal helicase 1 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group J
DNA:nonsense mutation:cds:p.R798* (human)
ClinVar Annotator: match by OMIM:609054
OMIM
ClinVar
PMID:11301010, PMID:12565990, PMID:12569564, PMID:12872252, PMID:14983014, PMID:15285897, PMID:16116421, PMID:16116423, PMID:16116424, PMID:16153896, PMID:16280053, PMID:16430786, PMID:16973432, PMID:17033622, PMID:17145708, PMID:17342202, PMID:17596542, PMID:18414782, PMID:18426915, PMID:18483852, PMID:18510924, PMID:18628483, PMID:19099189, PMID:19127258, PMID:19150983, PMID:19197335, PMID:19339519, PMID:19379763, PMID:19442249, PMID:19519404, PMID:19584272, PMID:19763819, PMID:19935797, PMID:20068231, PMID:20159562, PMID:20168331, PMID:20177395, PMID:20639400, PMID:20980836, PMID:21127055, PMID:21165771, PMID:21279724, PMID:21345144, PMID:21356067, PMID:21409391, PMID:21964575, PMID:22006311, PMID:22024395, PMID:22287629, PMID:22582397, PMID:22692731, PMID:22792074, PMID:23161009, PMID:23276657, PMID:23555315, PMID:23613520, PMID:23644138, PMID:23935105, PMID:24033266, PMID:24123366, PMID:24240112, PMID:24376576, PMID:24448499, PMID:24487782, PMID:24556621, PMID:24573678, PMID:24584348, PMID:24728327, PMID:24755471, PMID:24763289, PMID:24895130, PMID:25058500, PMID:25186627, PMID:25256751, PMID:25318351, PMID:25374583, PMID:25452441, PMID:25525159, PMID:25583461, PMID:25722345, PMID:25741868, PMID:25846551, PMID:25980754, PMID:25981591, PMID:26206375, PMID:26207792, PMID:26264438, PMID:26296696, PMID:26315354, PMID:26467025, PMID:26483394, PMID:26534844, PMID:26556299, PMID:26580448, PMID:26596371, PMID:26635394, PMID:26659599, PMID:26681312, PMID:26681682, PMID:26689913, PMID:26709662, PMID:26720728, PMID:26757417, PMID:26786923, PMID:26790966, PMID:26822149, PMID:26822949, PMID:26824983, PMID:26845104, PMID:26901136, PMID:26911350, PMID:26921362, PMID:26968956, PMID:26976419, PMID:27074266, PMID:27107905, PMID:27150160, PMID:27153395, PMID:27165003, PMID:27179029, PMID:27193682, PMID:27378695, PMID:27427815, PMID:27433846, PMID:27443514, PMID:27498913, PMID:27527004, PMID:27547810, PMID:27553368, PMID:27621404, PMID:27701467, PMID:27978560, PMID:27997549, PMID:28076423, PMID:28135145, PMID:28152038, PMID:28202063, PMID:28423363, PMID:28492532, PMID:28495237, PMID:28503720, PMID:28528518, PMID:28678401, PMID:28709830, PMID:28717660, PMID:28767289, PMID:28796317, PMID:28911102, PMID:28961279, PMID:29263802, PMID:29335925, PMID:29338689, PMID:29360161, PMID:29368626, PMID:29470806, PMID:29625052, PMID:29636988, PMID:29667044, PMID:29788478, PMID:29922827, PMID:29929473, PMID:30086788, PMID:30093976, PMID:30130155, PMID:30230034, PMID:30262796, PMID:30295334, PMID:30311386, PMID:30322717, PMID:30374176, PMID:30414346, PMID:30728895, PMID:30982232, PMID:31159747, PMID:31214711, PMID:31265121, PMID:31341520, PMID:31822495, PMID:31843900, PMID:32566746, PMID:26968956 RGD:11251781 NCBI chr10:73,507,009...73,632,742
Ensembl chr10:73,507,100...73,629,581
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
ClinVar Annotator: match by OMIM:614083
OMIM
ClinVar
PMID:19405097, PMID:21279724, PMID:23613520, PMID:24033266, PMID:25239263, PMID:25659033, PMID:25741868, PMID:25754594, PMID:26822237, PMID:26822949, PMID:27153395, PMID:28492532 NCBI chr14:110,675,306...110,740,880
Ensembl chr14:110,676,090...110,740,317
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:23613520, PMID:24033266, PMID:25239263, PMID:25659033, PMID:25741868, PMID:26822237, PMID:26822949, PMID:27153395, PMID:28492532 NCBI chr14:110,739,835...110,883,836
Ensembl chr14:110,739,226...110,883,803
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 OMIM
ClinVar
PMID:16116422, PMID:19423727, PMID:19737859, PMID:25741868, PMID:28492532 NCBI chr 6:86,823,195...86,877,067
Ensembl chr 6:86,823,684...86,876,633
JBrowse link
Fanconi anemia complementation group N term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group N
ClinVar Annotator: match by OMIM:610832
OMIM
ClinVar
PMID:16793542, PMID:17200668, PMID:17200671, PMID:17200672, PMID:17287723, PMID:17420451, PMID:17924555, PMID:18288683, PMID:18302019, PMID:18446436, PMID:18987736, PMID:19264984, PMID:19333784, PMID:19369211, PMID:19584259, PMID:19609323, PMID:19635604, PMID:19763884, PMID:20091115, PMID:20122277, PMID:20180015, PMID:20412113, PMID:20582465, PMID:20589654, PMID:20722467, PMID:20852946, PMID:20927582, PMID:21113654, PMID:21165770, PMID:21285249, PMID:21356067, PMID:21365267, PMID:21409391, PMID:21618343, PMID:21932393, PMID:22052327, PMID:22241545, PMID:22310028, PMID:22692731, PMID:22995991, PMID:23341105, PMID:23448497, PMID:23555315, PMID:23824750, PMID:23935836, PMID:23977390, PMID:24033266, PMID:24141787, PMID:24206657, PMID:24415441, PMID:24448499, PMID:24556926, PMID:24728327, PMID:24949998, PMID:25099575, PMID:25117502, PMID:25186627, PMID:25225577, PMID:25356972, PMID:25447460, PMID:25452441, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25575445, PMID:25666743, PMID:25741868, PMID:25794774, PMID:25980754, PMID:26094658, PMID:26283626, PMID:26315354, PMID:26411315, PMID:26467025, PMID:26489409, PMID:26534844, PMID:26564480, PMID:26649820, PMID:26681312, PMID:26689913, PMID:26692951, PMID:26740942, PMID:26845104, PMID:26878173, PMID:26898890, PMID:26976419, PMID:26990772, PMID:27067391, PMID:27099641, PMID:27106063, PMID:27153395, PMID:27328445, PMID:27356891, PMID:27397723, PMID:27573125, PMID:27595995, PMID:27616075, PMID:27621404, PMID:27783279, PMID:27829436, PMID:27930734, PMID:27978560, PMID:28008555, PMID:28051113, PMID:28152038, PMID:28279176, PMID:28281021, PMID:28319063, PMID:28380452, PMID:28492532, PMID:28503720, PMID:28580595, PMID:28664506, PMID:28767289, PMID:28779002, PMID:28796317, PMID:28825143, PMID:28873162, PMID:29052111, PMID:29190888, PMID:29263802, PMID:29360161, PMID:29368341, PMID:29522266, PMID:29667044, PMID:29802286, PMID:29909963, PMID:30287823, PMID:30306255, PMID:30982232, PMID:31159747, PMID:31586400, PMID:31636395, PMID:32566746 NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520
JBrowse link
Fanconi anemia complementation group O term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group O
ClinVar Annotator: match by OMIM:613390
OMIM
ClinVar
PMID:12442171, PMID:12966089, PMID:14704354, PMID:15126333, PMID:15170666, PMID:18203022, PMID:20052722, PMID:20400963, PMID:20400964, PMID:20697805, PMID:20723205, PMID:20952512, PMID:21447597, PMID:21537932, PMID:21597919, PMID:21616938, PMID:21750962, PMID:21980511, PMID:21990120, PMID:22006311, PMID:22167183, PMID:22370629, PMID:22451500, PMID:22476429, PMID:22538716, PMID:22725699, PMID:22810696, PMID:23117857, PMID:23176254, PMID:23500037, PMID:23704328, PMID:24082139, PMID:24139550, PMID:24141787, PMID:24240112, PMID:24315737, PMID:24359560, PMID:24504028, PMID:24549055, PMID:24631219, PMID:24763404, PMID:24800917, PMID:24993905, PMID:24998779, PMID:25086635, PMID:25154786, PMID:25186627, PMID:25292178, PMID:25318351, PMID:25338684, PMID:25452441, PMID:25470109, PMID:25525159, PMID:25741868, PMID:25833843, PMID:25980754, PMID:26057125, PMID:26103414, PMID:26261251, PMID:26270727, PMID:26354865, PMID:26406419, PMID:26467025, PMID:26483394, PMID:26556299, PMID:26580448, PMID:26681312, PMID:26687385, PMID:26689913, PMID:26691941, PMID:26720728, PMID:26740214, PMID:26822949, PMID:26824983, PMID:26845104, PMID:26848151, PMID:26976419, PMID:27037238, PMID:27149507, PMID:27149842, PMID:27153395, PMID:27230542, PMID:27328445, PMID:27433846, PMID:27443514, PMID:27616075, PMID:27621404, PMID:27622768, PMID:27852271, PMID:27878467, PMID:27913932, PMID:27978560, PMID:28123851, PMID:28135145, PMID:28152038, PMID:28202063, PMID:28281021, PMID:28492532, PMID:28588062, PMID:28678401, PMID:28709830, PMID:28767289, PMID:28802053, PMID:28829762, PMID:28864920, PMID:28873162, PMID:28905878, PMID:28975465, PMID:29020732, PMID:29053726, PMID:29054568, PMID:29158291, PMID:29255180, PMID:29278735, PMID:29360161, PMID:29409816, PMID:29458332, PMID:29470806, PMID:29522266, PMID:29566657, PMID:29659569, PMID:29752822, PMID:29785153, PMID:29922827, PMID:29978187, PMID:30086788, PMID:30128536, PMID:30257646, PMID:30311386, PMID:30322717, PMID:30374176, PMID:30426508, PMID:30551670, PMID:30927251, PMID:30949688, PMID:30995915, PMID:31300551, PMID:31422574, PMID:31843900, PMID:32566746 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
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
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:21240275, PMID:21240277, PMID:21805310, PMID:22383991, PMID:22401137, PMID:22911665, PMID:23211700, PMID:23840564, PMID:25288723, PMID:25326635, PMID:25741868, PMID:26201965, PMID:28202063, PMID:28492532, PMID:28717660 NCBI chr10:11,787,756...11,808,326
Ensembl chr10:11,786,121...11,807,928
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
ClinVar Annotator: match by term: Fanconi anemia, complementation group q
ClinVar Annotator: match by OMIM:615272
OMIM
ClinVar
PMID:23623386, PMID:25741868, PMID:28292785, PMID:28492532, PMID:30165384, PMID:30658521 NCBI chr10:2,010,140...2,037,953
Ensembl chr10:2,010,648...2,037,891
JBrowse link
Fanconi anemia complementation group R term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group R ClinVar
OMIM
PMID:24808016, PMID:25741868, PMID:25813273, PMID:26253028, PMID:26681308 NCBI chr 3:110,918,240...110,942,920
Ensembl chr 3:110,918,243...110,942,917
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
OMIM
PMID:7795652, PMID:7837387, PMID:7894493, PMID:8554067, PMID:8606385, PMID:8644702, PMID:8807330, PMID:8968102, PMID:9159158, PMID:9333265, PMID:9361038, PMID:9525870, PMID:9609997, PMID:9663595, PMID:10788334, PMID:10945975, PMID:11157798, PMID:11278247, PMID:11320250, PMID:11389159, PMID:11436123, PMID:11597388, PMID:11802209, PMID:12142080, PMID:12204006, PMID:12393792, PMID:12491499, PMID:12496476, PMID:12531920, PMID:12566964, PMID:12601471, PMID:12732733, PMID:12810666, PMID:12938098, PMID:14760071, PMID:14976165, PMID:15001988, PMID:15004537, PMID:15024741, PMID:15172985, PMID:15235020, PMID:15290653, PMID:15365993, PMID:15383404, PMID:15569676, PMID:15876480, PMID:16168118, PMID:16227521, PMID:16267036, PMID:16280041, PMID:16284991, PMID:16403807, PMID:16515586, PMID:16518693, PMID:16528604, PMID:16683254, PMID:17148771, PMID:17305420, PMID:17308087, PMID:17453335, PMID:17574969, PMID:17924331, PMID:18006916, PMID:18159056, PMID:18489799, PMID:18680205, PMID:18763032, PMID:18783588, PMID:18821011, PMID:18824701, PMID:19016756, PMID:19200354, PMID:19543972, PMID:19563646, PMID:19594371, PMID:19638463, PMID:19770520, PMID:19949876, PMID:19996028, PMID:20103620, PMID:20104584, PMID:20180014, PMID:20345474, PMID:20373018, PMID:20378548, PMID:20507347, PMID:20516115, PMID:20569256, PMID:20614009, PMID:20683152, PMID:21147198, PMID:21232165, PMID:21324516, PMID:21356067, PMID:21394826, PMID:21447777, PMID:21473589, PMID:21503673, PMID:21520273, PMID:21702907, PMID:21922593, PMID:21965345, PMID:21989927, PMID:21990134, PMID:21990165, PMID:22010008, PMID:22172724, PMID:22434525, PMID:22476429, PMID:22652532, PMID:22713736, PMID:22798144, PMID:22843421, PMID:22889855, PMID:23161852, PMID:23199084, PMID:23269703, PMID:23469205, PMID:23536787, PMID:23580280, PMID:23683081, PMID:23704879, PMID:23725378, PMID:23767878, PMID:23867111, PMID:24010542, PMID:24033266, PMID:24055113, PMID:24131973, PMID:24240112, PMID:24312913, PMID:24504028, PMID:24528374, PMID:24569164, PMID:24667779, PMID:24728189, PMID:24772314, PMID:24884479, PMID:25085752, PMID:25330149, PMID:25400221, PMID:25428789, PMID:25452441, PMID:25472942, PMID:25525159, PMID:25637381, PMID:25682074, PMID:25741868, PMID:25748678, PMID:25782689, PMID:25880076, PMID:25948282, PMID:26010302, PMID:26083025, PMID:26187060, PMID:26219728, PMID:26287763, PMID:26295337, PMID:26467025, PMID:26681312, PMID:26689913, PMID:26718727, PMID:26779294, PMID:26786923, PMID:26843898, PMID:26845104, PMID:26852130, PMID:26913838, PMID:27153395, PMID:27257965, PMID:27272900, PMID:27393621, PMID:27425403, PMID:27433846, PMID:27741520, PMID:27836010, PMID:27914478, PMID:27978560, PMID:28111427, PMID:28265380, PMID:28283652, PMID:28294317, PMID:28324225, PMID:28364669, PMID:28423363, PMID:28477318, PMID:28492532, PMID:28664449, PMID:28724667, PMID:28781887, PMID:28831036, PMID:29133208, PMID:29335924, PMID:29339979, PMID:29433453, PMID:29470806, PMID:29478780, PMID:29492181, PMID:29712865, PMID:29752822, PMID:29797126, PMID:29907814, PMID:29998185, PMID:30055521, PMID:30067863, PMID:30103829, PMID:30209399, PMID:30311386, PMID:30606148, PMID:30765603, PMID:31341520, PMID:31347298 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
Fanconi anemia complementation group T term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ube2t ubiquitin-conjugating enzyme E2T ISO ClinVar Annotator: match by term: Fanconi anemia, complementation group t
ClinVar Annotator: match by term: Fanconi anemia, complementation group T
ClinVar
OMIM
PMID:26046368, PMID:26119737 NCBI chr13:51,790,877...51,801,379
Ensembl chr13:51,795,867...51,801,163
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:20189471, PMID:22232082, PMID:22464251, PMID:23054243, PMID:25637381, PMID:25741868, PMID:26046366, PMID:26689913, PMID:26845104, PMID:27208205, PMID:27233470, PMID:28486781, PMID:28492532, PMID:28767289, PMID:32860008 NCBI chr 4:5,842,013...5,860,516
Ensembl chr 4:5,841,998...5,860,527
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
OMIM
PMID:27500492 NCBI chr 5:164,943,183...164,956,255
Ensembl chr 5:164,950,917...164,956,255
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
OMIM
PMID:25741868, PMID:28691929 NCBI chr19:42,960,597...42,971,894
Ensembl chr19:42,964,586...42,972,101
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 OMIM:617021
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
ClinVar
OMIM
PMID:23541342, PMID:24033266, PMID:25741868, PMID:26537577, PMID:26970254 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
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 ClinVar Annotator: match by term: Anemia, hypochromic microcytic, with iron overload 1 OMIM
ClinVar
PMID:15459009, PMID:16023393, PMID:16091455, PMID:16140868, PMID:16160008, PMID:16439678, PMID:25741868, PMID:28492532 NCBI chr 7:142,025,812...142,062,892
Ensembl chr 7:142,025,815...142,063,212
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 IEP mRNA:increased expression:liver RGD PMID:25580431 RGD:11041717 NCBI chr 1:89,368,021...89,369,960
Ensembl chr 1:89,368,021...89,369,960
JBrowse link
G RT1-Bb RT1 class II, locus Bb susceptibility ISO DNA:polymorphisms, haplotype:cds:HLA-DQB1*0309 (human) RGD PMID:18689790 RGD:11041748 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphisms, haplotype:cds:HLA-DRB1*09 (human) RGD PMID:18689790 RGD:11041748 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
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 CTD PMID:16892088, PMID:18637800, PMID:18398482 RGD:11038732 NCBI chr  X:75,150,511...75,291,950
Ensembl chr  X:75,150,608...75,291,938
JBrowse link
G Alad aminolevulinate dehydratase ISO protein:decreased activity:kidney, liver, spleen RGD PMID:5891055 RGD:12904678 NCBI chr 5:78,368,867...78,379,206
Ensembl chr 5:78,368,867...78,379,346
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 susceptibility ISO DNA:transversion:cds:p.F165L (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:16716198, PMID:16892088, PMID:7949148 RGD:1599037 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
JBrowse link
G Calr calreticulin ISO DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human) RGD PMID:24325359 RGD:11352763 NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
JBrowse link
G Gdf15 growth differentiation factor 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19036111 NCBI chr16:20,555,395...20,557,978
Ensembl chr16:20,555,395...20,557,978
JBrowse link
G Glrx5 glutaredoxin 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18637800 NCBI chr 6:128,750,503...128,760,880
Ensembl chr 6:128,750,795...128,760,880
JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Sideroblastic anemia, acquired idiopathic ClinVar PMID:9389715 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19412178 NCBI chr 8:128,790,348...128,802,988
Ensembl chr 8:128,790,348...128,802,989
JBrowse link
G Sod2 superoxide dismutase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16910769, PMID:21326867 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tfrc transferrin receptor ISO mRNA,protein:increased expression:erythroblast: RGD PMID:21326867 RGD:11062136 NCBI chr11:71,397,423...71,419,263
Ensembl chr11:71,397,383...71,419,223
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, sideroblastic, 1
ClinVar Annotator: match by term: Hereditary sideroblastic anemia
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:p.R452H, R452C, K156E(human)
DNA:mutation:exon: 1236 G> A, p.C395Y (human)
DNA:mutations:exons:p.K299Q,A172T(human)
ClinVar Annotator: match by OMIM:300751
OMIM
ClinVar
CTD
PMID:1570328, PMID:7705839, PMID:7949148, PMID:8107717, PMID:9488633, PMID:9858242, PMID:10029606, PMID:10444183, PMID:11110715, PMID:12031592, PMID:12531813, PMID:12663458, PMID:16121195, PMID:16446107, PMID:18637800, PMID:18823803, PMID:20848343, PMID:21653323, PMID:22269113, PMID:22740690, PMID:22778251, PMID:22995991, PMID:23315997, PMID:25741868, PMID:28492532, PMID:21252495, PMID:11110715, PMID:7560104 RGD:11035244, RGD:11035243, RGD:11035241 NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
JBrowse link
G Apex2 apurinic/apyrimidinic endodeoxyribonuclease 2 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 1 ClinVar NCBI chr  X:23,146,085...23,166,676
Ensembl chr  X:23,146,085...23,166,675
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 1 ClinVar PMID:28492532 NCBI chr 8:128,790,348...128,802,988
Ensembl chr 8:128,790,348...128,802,989
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
ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
ClinVar
OMIM
PMID:24033266, PMID:25193871, PMID:25741868, PMID:26494905, PMID:27370603, PMID:27389523, PMID:27531075, PMID:28492532, PMID:29055896, PMID:29358286, PMID:29454993 NCBI chr 4:138,855,497...138,869,217
Ensembl chr 4:138,855,641...138,869,217
JBrowse link
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 susceptibility ISO DNA:missense mutation: :p.I400M (human)
ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar Annotator: match by term: Anemia sideroblastic and spinocerebellar ataxia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:301310
DNA:missense mutation:exon:p.V411L (1299G>C) (human)
DNA:missense mutation:exon:p.E433K (1305G>A) (human)
ClinVar
CTD
OMIM
PMID:4045952, PMID:10196363, PMID:11050011, PMID:11843825, PMID:21326867, PMID:22398176, PMID:25741868, PMID:28492532, PMID:10196363, PMID:11843825, PMID:11050011 RGD:1598600, RGD:11038735, RGD:11038734 NCBI chr  X:75,150,511...75,291,950
Ensembl chr  X:75,150,608...75,291,938
JBrowse link
G Alas2 5'-aminolevulinate synthase 2 ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar NCBI chr  X:23,167,576...23,187,356
Ensembl chr  X:23,167,696...23,187,341
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO ClinVar Annotator: match by term: Anemia seX-linked hypochromic sideroblastic ClinVar NCBI chr 8:128,790,348...128,802,988
Ensembl chr 8:128,790,348...128,802,989
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      hematopoietic system disease 1646
        anemia 409
          aplastic anemia 151
            Aplastic Anemia, Idiopathic 0
            Bone Marrow Failure Syndrome 1 1
            WT Limb Blood Syndrome 0
            congenital hypoplastic anemia + 107
            myelophthisic anemia 0
            pure red-cell aplasia + 65
            sideroblastic anemia + 16
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Hemic and Lymphatic Diseases 2053
        hematopoietic system disease 1646
          bone marrow disease 473
            Bone Marrow Failure Disorders 163
              aplastic anemia 151
                Aplastic Anemia, Idiopathic 0
                Bone Marrow Failure Syndrome 1 1
                WT Limb Blood Syndrome 0
                congenital hypoplastic anemia + 107
                myelophthisic anemia 0
                pure red-cell aplasia + 65
                sideroblastic anemia + 16
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.