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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:bone marrow disease
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Accession:DOID:4961 term browser browse the term
Definition:Diseases involving the BONE MARROW.
Synonyms:exact_synonym: bone marrow diseases;   bone marrow disorder
 related_synonym: bone marrow hypocellularity
 primary_id: MESH:D001855
 alt_id: RDO:0000824
 xref: NCI:C34433
For additional species annotation, visit the Alliance of Genome Resources.


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bone marrow disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc12 ATP binding cassette subfamily C member 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18466103 NCBI chr19:21,541,324...21,612,757
Ensembl chr19:21,541,742...21,612,527
JBrowse link
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:25741868 NCBI chr18:66,518,213...67,629,801
Ensembl chr18:66,523,120...67,224,566
JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:25741868, PMID:26712909, PMID:32098966 NCBI chr17:9,631,925...9,637,317
Ensembl chr17:9,631,925...9,637,316
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO RGD PMID:25416277 RGD:11041127 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Gstp1 glutathione S-transferase pi 1 susceptibility ISO associated with Lupus Erythematosus, Systemic;DNA:polymorphism:cds:p.I105V(human) RGD PMID:16995867 RGD:10755423 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G LOC100361854 ribosomal protein S26-like ISO ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:25741868 NCBI chr  X:115,495,660...115,496,062
Ensembl chr  X:115,495,698...115,496,045
JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone reductase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12351651 NCBI chr17:32,131,847...32,158,559
Ensembl chr17:32,132,347...32,158,538
JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18252230 NCBI chr15:34,358,697...34,365,085
Ensembl chr15:34,360,974...34,364,081
JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:1351039, PMID:1358785, PMID:1997217, PMID:2002274, PMID:2063870, PMID:2237288, PMID:2320592, PMID:2349941, PMID:2590199, PMID:2646319, PMID:3030336, PMID:3229002, PMID:3627183, PMID:3934968, PMID:7868124, PMID:8698351, PMID:9017939, PMID:10762172, PMID:10842715, PMID:11385707, PMID:11752419, PMID:11752443, PMID:12050338, PMID:12217248, PMID:12874413, PMID:12874414, PMID:14569203, PMID:14640030, PMID:15123043, PMID:15299606, PMID:15820680, PMID:16011990, PMID:16432141, PMID:16631014, PMID:16631015, PMID:17251346, PMID:17503405, PMID:18276611, PMID:18318779, PMID:18830126, PMID:19781421, PMID:20301373, PMID:20435197, PMID:21600538, PMID:22083004, PMID:22184092, PMID:22745357, PMID:22877808, PMID:22995991, PMID:23414091, PMID:23713495, PMID:23716704, PMID:24073013, PMID:24184229, PMID:24474780, PMID:24517438, PMID:24633258, PMID:24818650, PMID:24945718, PMID:25225131, PMID:25395306, PMID:25551524, PMID:25741868, PMID:25819286, PMID:25846356, PMID:26123279, PMID:26428663, PMID:26467025, PMID:26537620, PMID:28492532 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
JBrowse link
Acute Erythroblastic Leukemia 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 Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:42,066,103...42,087,906
Ensembl chr19:42,066,351...42,082,012
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
Acute Erythroleukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx41 DEAD-box helicase 41 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr17:9,631,925...9,637,317
Ensembl chr17:9,631,925...9,637,316
JBrowse link
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO ClinVar Annotator: match by term: Acute erythroleukemia ClinVar PMID:27416908 NCBI chr 7:2,989,202...3,010,610
Ensembl chr 7:2,989,340...3,010,350
JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr12:9,360,439...9,437,004
Ensembl chr12:9,360,672...9,436,570
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased 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 Hoxb9 homeo box B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr10:84,119,772...84,124,963
Ensembl chr10:84,119,884...84,123,390
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Npm1 nucleophosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr10:18,080,949...18,091,062
Ensembl chr10:18,080,950...18,090,950
JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr 1:167,213,866...167,308,851
Ensembl chr 1:167,213,866...167,308,851
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
Alpha-Thalassemia Myelodysplasia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Acquired hemoglobin H disease
ClinVar Annotator: match by OMIM:300448
OMIM
ClinVar
PMID:1415255, PMID:9326931, PMID:10398237, PMID:10417298, PMID:10570185, PMID:10602370, PMID:11015451, PMID:11050622, PMID:12032728, PMID:12116232, PMID:12673795, PMID:12858175, PMID:16118346, PMID:16722615, PMID:16813605, PMID:16955409, PMID:18409179, PMID:19005673, PMID:20500465, PMID:21653732, PMID:24289169, PMID:24327140, PMID:24805811, PMID:25741868, PMID:28371197, PMID:28371217, PMID:28492532 NCBI chr  X:76,820,110...76,979,155
Ensembl chr  X:76,692,970...76,708,878
Ensembl chr  X:76,692,970...76,708,878
JBrowse link
Anemia, Refractory, with Excess of Blasts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Birc5 baculoviral IAP repeat-containing 5 ISO RGD PMID:18426652 RGD:11038658 NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
JBrowse link
G C3 complement C3 disease_progression ISO RGD PMID:9741227 RGD:11041158 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167
JBrowse link
G Cfb complement factor B disease_progression ISO RGD PMID:9741227 RGD:11041158 NCBI chr20:4,536,206...4,542,073
Ensembl chr20:4,536,203...4,561,066
Ensembl chr20:4,536,203...4,561,066
JBrowse link
G Tert telomerase reverse transcriptase ISO RGD PMID:18426652 RGD:11038658 NCBI chr 1:32,250,876...32,275,330
Ensembl chr 1:32,251,714...32,272,476
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 disease_progression ISO RGD PMID:25200248 RGD:11038682 NCBI chr 2:238,719,389...238,802,975
Ensembl chr 2:238,720,835...238,803,024
JBrowse link
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
atypical chronic myeloid leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:15050920 RGD:11352668 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23222956 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
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
Blast Crisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aicda activation-induced cytidine deaminase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21570118 NCBI chr 4:155,359,909...155,371,104
Ensembl chr 4:155,359,921...155,369,671
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21570118 NCBI chr20:14,421,250...14,546,406
Ensembl chr20:14,421,141...14,545,772
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:12740446 RGD:734951 NCBI chr 6:99,163,953...99,214,711
Ensembl chr 6:99,164,357...99,214,251
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:22139798 RGD:10755566 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Mir150 microRNA 150 ISO miRNA:decreased expression:leukocytes RGD PMID:21501493 RGD:13782140 NCBI chr 1:101,115,974...101,116,058
Ensembl chr 1:101,115,974...101,116,058
JBrowse link
G Tcn2 transcobalamin 2 ISO protein:increased expression:: RGD PMID:1059479 RGD:11060122 NCBI chr14:84,173,992...84,189,299
Ensembl chr14:84,174,138...84,189,266
JBrowse link
Bone Marrow Failure Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttr transthyretin ISO ClinVar Annotator: match by term: Bone marrow failure ClinVar PMID:1351039, PMID:1358785, PMID:1997217, PMID:2002274, PMID:2063870, PMID:2237288, PMID:2320592, PMID:2349941, PMID:2590199, PMID:2646319, PMID:3030336, PMID:3229002, PMID:3627183, PMID:3934968, PMID:7868124, PMID:8698351, PMID:9017939, PMID:10762172, PMID:10842715, PMID:11385707, PMID:11752419, PMID:11752443, PMID:12050338, PMID:12217248, PMID:12874413, PMID:12874414, PMID:14569203, PMID:14640030, PMID:15123043, PMID:15299606, PMID:15820680, PMID:16011990, PMID:16432141, PMID:16631014, PMID:16631015, PMID:17251346, PMID:17503405, PMID:18276611, PMID:18318779, PMID:18830126, PMID:19781421, PMID:20301373, PMID:20435197, PMID:21600538, PMID:22083004, PMID:22184092, PMID:22745357, PMID:22877808, PMID:22995991, PMID:23414091, PMID:23713495, PMID:23716704, PMID:24073013, PMID:24184229, PMID:24474780, PMID:24517438, PMID:24633258, PMID:24818650, PMID:24945718, PMID:25225131, PMID:25395306, PMID:25551524, PMID:25741868, PMID:25819286, PMID:25846356, PMID:26123279, PMID:26428663, PMID:26467025, PMID:26537620, PMID:28492532 NCBI chr18:15,532,963...15,542,180
Ensembl chr18:15,532,963...15,540,177
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
Bone Marrow Failure Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ercc6l2 ERCC excision repair 6 like 2 ISO ClinVar Annotator: match by term: Bone marrow failure syndrome 2
ClinVar Annotator: match by OMIM:615715
OMIM
ClinVar
PMID:24507776, PMID:25741868, PMID:27185855, PMID:29633571 NCBI chr17:1,325,654...1,421,732
Ensembl chr17:1,305,016...1,421,685
JBrowse link
Bone Marrow Failure Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 ISO ClinVar Annotator: match by term: Bone marrow failure syndrome 3 ClinVar
OMIM
PMID:25741868, PMID:27346687, PMID:28062395, PMID:29700810 NCBI chr 2:60,419,446...60,446,656
Ensembl chr 2:60,419,525...60,446,510
JBrowse link
Bone Marrow Failure Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mysm1 myb-like, SWIRM and MPN domains 1 ISO ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 4 OMIM
ClinVar
PMID:22184403, PMID:24288411, PMID:25741868, PMID:26220525, PMID:28115216 NCBI chr 5:113,902,115...113,939,083
Ensembl chr 5:113,906,803...113,939,127
JBrowse link
Bone Marrow Failure Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 5 OMIM
ClinVar
PMID:30146126 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
Bone Marrow Failure Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mdm4 MDM4 regulator of p53 ISO ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 6 OMIM
ClinVar
PMID:32300648 NCBI chr13:49,786,776...49,828,780
Ensembl chr13:49,792,794...49,828,720
JBrowse link
Bone Marrow Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20026017 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:24761810 RGD:11073734 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
chronic myeloid leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A treatment
susceptibility
ISO DNA:SNPs: :1236T>C,2677G>A(human)
DNA:SNP, haplotype: :3435C>T (human)
RGD PMID:24581936, PMID:26250462 RGD:11081178, RGD:11081180 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
JBrowse link
G Abcc2 ATP binding cassette subfamily C member 2 treatment ISO DNA:haploltype: :-24C>T, 1249G>A, 3972C>T(human) RGD PMID:25060527 RGD:11080961 NCBI chr 1:263,554,426...263,612,556
Ensembl chr 1:263,554,453...263,613,252
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 treatment
susceptibility
ISO DNA:SNP: :421C>A(human)
DNA:haplotype:cds: p.Q141K,p.V12M,(rs2231142),(rs2725252)(human)
DNA:SNP,haplotype: :C>A421(human)
RGD PMID:24581936, PMID:24123600, PMID:26250462 RGD:11081178, RGD:11081181, RGD:11081180 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase susceptibility
treatment
ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia
ClinVar Annotator: match by term: ABL1-Related Disorder
DNA:gene fusion
ClinVar Annotator: match by term: Chronic myeloid leukemia
ClinVar Annotator: match by term: Chronic myeloid leukemia, resistant to imatinib
ClinVar Annotator: match by term: Leukemia, philadelphia chromosome-positive, resistant to imatinib
CTD Direct Evidence: marker/mechanism
DNA:missense mutations: :multiple
ClinVar
OMIM
CTD
PMID:10988075, PMID:11423618, PMID:11567109, PMID:11569495, PMID:11853795, PMID:11861307, PMID:11964322, PMID:12130516, PMID:12399961, PMID:12576318, PMID:12623848, PMID:12663457, PMID:12783380, PMID:14559829, PMID:14745431, PMID:15194504, PMID:15256422, PMID:15381060, PMID:15510211, PMID:15604220, PMID:17008892, PMID:17114651, PMID:17189410, PMID:18223278, PMID:18354488, PMID:18615627, PMID:18673174, PMID:18757400, PMID:18828913, PMID:19164531, PMID:19264234, PMID:19466505, PMID:19557636, PMID:19652056, PMID:19768693, PMID:19811824, PMID:20010464, PMID:20367437, PMID:20512393, PMID:20537386, PMID:20557306, PMID:20607847, PMID:20697894, PMID:20702476, PMID:20963643, PMID:21221851, PMID:21489624, PMID:21505103, PMID:21509757, PMID:21562040, PMID:21605905, PMID:21762985, PMID:21872826, PMID:21888027, PMID:21895409, PMID:21908430, PMID:22210874, PMID:22306673, PMID:22772060, PMID:22870928, PMID:22912393, PMID:23355941, PMID:23540562, PMID:23575252, PMID:23676790, PMID:24109527, PMID:24236021, PMID:24456693, PMID:25152116, PMID:25157968, PMID:25686603, PMID:28492532, PMID:31775759, PMID:3021820, PMID:25133686, PMID:21481795, PMID:12067277, PMID:23289634 RGD:1598673, RGD:13674161, RGD:11038814, RGD:14392796, RGD:11038807 NCBI chr 3:10,041,820...10,145,076
Ensembl chr 3:10,041,826...10,144,388
JBrowse link
G Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase TAS RGD PMID:7773298 RGD:1298615 NCBI chr13:74,154,533...74,333,244
Ensembl chr13:74,154,835...74,333,244
JBrowse link
G Ace angiotensin I converting enzyme ISO RGD PMID:19761684 RGD:11039056 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Agt angiotensinogen ISO RGD PMID:19761684 RGD:11039056 NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased phosphorylation:blood RGD PMID:17900686 RGD:13674160 NCBI chr 6:137,218,398...137,239,970
Ensembl chr 6:137,218,376...137,236,258
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: therapeutic CTD PMID:19503090, PMID:19823023 NCBI chr 4:148,398,004...148,446,308
Ensembl chr 4:148,398,892...148,446,303
JBrowse link
G Arntl aryl hydrocarbon receptor nuclear translocator-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 1:178,039,002...178,137,469
Ensembl chr 1:178,039,063...178,137,465
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO RGD PMID:20728382 RGD:11353850 NCBI chr 3:148,259,594...148,314,191
Ensembl chr 3:148,259,596...148,313,810
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase susceptibility
disease_progression
ISO DNA:gene fusion
CTD Direct Evidence: marker/mechanism
DNA:methylation: :
DNA:translocations:cds:
CTD
OMIM
PMID:15604220, PMID:18673174, PMID:21908430, PMID:3101769, PMID:25133686, PMID:12067277, PMID:7683349, PMID:2683759, PMID:1362728 RGD:1600510, RGD:13674161, RGD:14392796, RGD:11038783, RGD:11038776, RGD:11038775 NCBI chr20:14,421,250...14,546,406
Ensembl chr20:14,421,141...14,545,772
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:16254145 NCBI chr10:106,856,097...106,864,419
Ensembl chr10:106,856,097...106,864,413
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Chronic myeloid leukemia ClinVar PMID:24033266, PMID:24446311, PMID:25157968, PMID:26619011 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Ca9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 5:59,008,277...59,015,535
Ensembl chr 5:59,008,933...59,015,528
JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, dendritic cell (human) RGD PMID:16527350 RGD:11520794 NCBI chr 3:161,519,789...161,534,943
Ensembl chr 3:161,519,743...161,534,704
JBrowse link
G Cdkn1b cyclin-dependent kinase inhibitor 1B ISO Protein:increased expression:Blood, common myeloid progenitor, CD34-positive RGD PMID:20200561 RGD:13673878 NCBI chr 4:168,689,043...168,694,159
Ensembl chr 4:168,689,163...168,693,964
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO RGD PMID:16533530 RGD:11251777 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link
G Cdkn2a_v1 cyclin-dependent kinase inhibitor 2A, variant 1 treatment ISO RGD PMID:16533530 RGD:11251777
G Cdkn2a_v2 cyclin-dependent kinase inhibitor 2A, variant 2 treatment ISO RGD PMID:16533530 RGD:11251777
G Chordc1 cysteine and histidine rich domain containing 1 ISS OMIM:608232 MouseDO NCBI chr 8:17,421,552...17,445,513
Ensembl chr 8:17,421,557...17,446,165
JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO protein:increased phosphorylation:blood RGD PMID:17900686 RGD:13674160 NCBI chr11:87,338,606...87,356,644
Ensembl chr11:87,778,312...87,815,043
JBrowse link
G Cry1 cryptochrome circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 7:24,534,593...24,634,098
Ensembl chr 7:24,534,615...24,634,097
JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 3:81,314,151...81,344,143
Ensembl chr 3:81,314,149...81,344,110
JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Chronic myeloid leukemia
ClinVar Annotator: match by term: Chronic myelogenous leukemia
ClinVar PMID:23604229, PMID:23634996, PMID:23656643, PMID:24081659, PMID:24403076, PMID:24614839, PMID:24854193, PMID:25491280, PMID:25932451, PMID:26875968, PMID:27148573, PMID:27581359, PMID:28209919, PMID:28219221, PMID:28492532, PMID:28762112, PMID:30967555 NCBI chr 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 treatment ISO DNA:polymorphism:cds:4889A>G(p.I462V)(human) RGD PMID:26464823 RGD:11352729 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Cyp3a9 cytochrome P450, family 3, subfamily a, polypeptide 9 susceptibility
treatment
ISO DNA:polymorphism:intron :6986A>G(human)
DNA:SNP::rs776746(human)
RGD PMID:21039054, PMID:19584153 RGD:11353798, RGD:11353810 NCBI chr12:19,074,288...19,114,491
Ensembl chr12:19,074,583...19,114,399
JBrowse link
G Dnmt1 DNA methyltransferase 1 disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chr 6:28,205,375...28,346,052
Ensembl chr 6:28,235,695...28,340,577
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G E2f1 E2F transcription factor 1 ISO mRNA:increased expression:blood RGD PMID:26460262 RGD:13674165 NCBI chr 3:150,062,895...150,073,721
Ensembl chr 3:150,047,826...150,073,721
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit ISO DNA:polymorphism: :p.K751Q (human)
DNA:polymorphism: :p.K751Q (rs13181) (human)
RGD PMID:24955348, PMID:25311495 RGD:11252188, RGD:11060463 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO mRNA:increased expression:bone marrow mononuclear cells (human) RGD PMID:27070757 RGD:13782088 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Fas Fas cell surface death receptor susceptibility ISO DNA:polymorphisms, haplotype:promoter: -670 G>A, -1377 G>A (human) RGD PMID:26563376 RGD:11049146 NCBI chr 1:252,589,785...252,624,790
Ensembl chr 1:252,589,785...252,624,790
JBrowse link
G Faslg Fas ligand susceptibility ISO DNA:polymorphism:promoter: -844 T>C(human) RGD PMID:26563376 RGD:11049146 NCBI chr13:79,696,811...79,717,581
Ensembl chr13:79,698,445...79,705,705
JBrowse link
G Fcgr2a Fc fragment of IgG receptor IIa ISO RGD PMID:8632671 RGD:11344957 NCBI chr13:91,146,878...91,163,691
Ensembl chr13:91,168,973...91,198,036
Ensembl chr13:91,168,973...91,198,036
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO mRNA:increased expression:peripheral blood (human) RGD PMID:14562121 RGD:36947884 NCBI chr14:82,272,322...82,287,739
Ensembl chr14:82,273,070...82,287,706
JBrowse link
G Gab2 GRB2-associated binding protein 2 disease_progression ISO protein:increased expression:bone marrow RGD PMID:22858987 RGD:13699433 NCBI chr 1:162,082,876...162,283,379
Ensembl chr 1:162,083,030...162,279,727
JBrowse link
G Gpx1 glutathione peroxidase 1 no_association ISO DNA:polymorphism: :p.P198L (human) RGD PMID:25436036 RGD:11352762 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20843134 NCBI chr 1:219,291,679...219,294,147
Ensembl chr 1:219,291,679...219,294,147
JBrowse link
G Hes1 hes family bHLH transcription factor 1 IMP rat gene in a mouse model RGD PMID:19861684 RGD:9685380 NCBI chr11:74,312,837...74,315,249
Ensembl chr11:74,312,806...74,315,248
JBrowse link
G Hmmr hyaluronan-mediated motility receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr10:25,861,490...25,890,639
Ensembl chr10:25,861,490...25,890,639
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:22139798 RGD:10755566 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23777986 NCBI chr 3:13,838,304...13,842,763
Ensembl chr 3:13,838,304...13,842,762
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:20305143 RGD:11049154 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1b interleukin 1 beta severity ISO RGD PMID:7949186 RGD:10450889 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO RGD PMID:7949186 RGD:10450889 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:15781101, PMID:15793561, PMID:15858187, PMID:16081687, PMID:16247455, PMID:16293597, PMID:16325696, PMID:16603627, PMID:16707754, PMID:16709929, PMID:16762626, PMID:17989398, PMID:18256599, PMID:18394554, PMID:19036091, PMID:19287384, PMID:19293426, PMID:20339092, PMID:20631743, PMID:20703299, PMID:21120162, PMID:21689158, PMID:22041374, PMID:22422826, PMID:22571758, PMID:22818858, PMID:22829971, PMID:23115274, PMID:24404189, PMID:24986690, PMID:25043017, PMID:25157968, PMID:25671252, PMID:25741868, PMID:32581362 NCBI chr 1:247,473,292...247,476,827
Ensembl chr 1:247,473,292...247,476,827
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:15781101, PMID:15793561, PMID:15858187, PMID:16081687, PMID:16247455, PMID:16293597, PMID:16325696, PMID:16603627, PMID:16707754, PMID:16709929, PMID:16762626, PMID:17989398, PMID:18256599, PMID:18394554, PMID:19036091, PMID:19287384, PMID:19293426, PMID:20339092, PMID:20631743, PMID:20703299, PMID:21120162, PMID:21689158, PMID:22041374, PMID:22422826, PMID:22571758, PMID:22818858, PMID:22829971, PMID:23115274, PMID:24404189, PMID:24986690, PMID:25043017, PMID:25157968, PMID:25671252, PMID:25741868, PMID:32581362 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:16307017, PMID:22703879, PMID:24728327, PMID:25741868, PMID:31775759 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: therapeutic CTD PMID:16818652 NCBI chr20:5,933,290...5,995,137
Ensembl chr20:5,933,303...5,995,137
JBrowse link
G Mdm2 MDM2 proto-oncogene onset ISO DNA:SNP:promoter:rs2279744(human) RGD PMID:23818300 RGD:13703044 NCBI chr 7:60,719,060...60,743,618
Ensembl chr 7:60,719,066...60,743,328
JBrowse link
G Mir150 microRNA 150 ISO miRNA:decreased expression:leukocytes RGD PMID:21501493 RGD:13782140 NCBI chr 1:101,115,974...101,116,058
Ensembl chr 1:101,115,974...101,116,058
JBrowse link
G Mlf1 myeloid leukemia factor 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr 2:164,549,423...164,582,645
Ensembl chr 2:164,549,455...164,582,643
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:17156840 RGD:10449408 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Ncstn nicastrin ISS OMIM:608232 MouseDO NCBI chr13:90,451,046...90,467,256
Ensembl chr13:90,451,044...90,467,256
JBrowse link
G Npm1 nucleophosmin 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr10:18,080,949...18,091,062
Ensembl chr10:18,080,950...18,090,950
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO DNA:SNP: :609C>T (human) RGD PMID:16235982 RGD:10769357 NCBI chr19:38,422,210...38,437,103
Ensembl chr19:38,422,164...38,437,180
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic myeloid leukemia ClinVar PMID:2674680, PMID:8120410, PMID:12460918, PMID:16291983, PMID:18390968, PMID:18948947, PMID:20130576, PMID:20179705, PMID:23134356, PMID:23414587, PMID:23515407, PMID:25157968, PMID:26619011 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:serum (human) RGD PMID:16521495 RGD:11552593 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Per1 period circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr10:55,681,761...55,696,557
Ensembl chr10:55,687,050...55,695,994
JBrowse link
G Per2 period circadian regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 9:98,555,154...98,597,362
Ensembl chr 9:98,555,169...98,597,359
JBrowse link
G Per3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 5:168,088,126...168,123,482
Ensembl chr 5:168,086,998...168,123,395
JBrowse link
G Prame PRAME nuclear receptor transcriptional regulator ISO mRNA:increased expression:mononuclear cell (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:17157168, PMID:20838376 RGD:11535035 NCBI chr  X:106,082,984...106,091,256
Ensembl chr  X:106,083,203...106,085,878
JBrowse link
G Prtn3 proteinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 7:12,643,712...12,646,951
Ensembl chr 7:12,643,516...12,646,960
JBrowse link
G RT1-Ba RT1 class II, locus Ba onset ISO DNA:polymorphism, haplotype RGD PMID:17893434, PMID:17387388 RGD:11041777, RGD:11041781 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 ISO DNA:polymorphism, haplotype RGD PMID:17893434 RGD:11041777 NCBI chr20:4,043,726...4,049,367
Ensembl chr20:4,039,413...4,049,711
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Chronic myeloid leukemia ClinVar PMID:18398855, PMID:18414213, PMID:20436468, PMID:21371013, PMID:23222956 NCBI chr18:75,090,733...75,432,446
Ensembl chr18:75,095,632...75,207,306
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISS OMIM:608232 MouseDO NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISS OMIM:608232 MouseDO NCBI chr 1:221,006,305...221,018,820
Ensembl chr 1:221,006,340...221,015,929
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:decreased expression:blood RGD PMID:29951173 RGD:13782079 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Srsf1 serine and arginine rich splicing factor 1 ISO mRNA:increased expression:peripheral blood mononuclear cell (human) RGD PMID:23228155 RGD:11038774 NCBI chr10:75,334,200...75,341,197
Ensembl chr10:75,335,146...75,341,197
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168, PMID:15068898 RGD:11038663 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 ISO protein:increased expression:serum RGD PMID:29951173 RGD:13782079 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:SNP,haplotype: :(rs6999470),(rs833061)(human) RGD PMID:19141860 RGD:13432135 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
G Xrcc1 X-ray repair cross complementing 1 susceptibility ISO DNA:SNP:cds :p.R194W(human) RGD PMID:26250462 RGD:11081180 NCBI chr 1:81,412,635...81,441,680
Ensembl chr 1:81,413,353...81,441,678
JBrowse link
chronic myelomonocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 disease_progression ISO DNA:mutations:exon: RGD PMID:20880116 RGD:11038767 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO DNA:altered methylation:5'UTR: RGD PMID:12750705 RGD:11252180 NCBI chr 5:107,834,353...107,857,428
Ensembl chr 5:107,845,951...107,858,104
JBrowse link
G Csf3r colony stimulating factor 3 receptor disease_progression ISO DNA:mutations:multiples: RGD PMID:23774674 RGD:10450469 NCBI chr 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit severity ISO DNA:mutations:multiple (human) RGD PMID:21339759 RGD:10450882 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Chronic myelomonocytic leukemia ClinVar PMID:9024139, PMID:10973849, PMID:17470695, PMID:19490272, PMID:19716085, PMID:22378279, PMID:22456477, PMID:22581653, PMID:24912595, PMID:25637381, PMID:28492532, PMID:30311386 NCBI chr 1:216,293,087...216,630,339
Ensembl chr 1:216,293,087...216,630,339
JBrowse link
G Kdm6a lysine demethylase 6A ISS MouseDO NCBI chr  X:4,805,493...4,945,788
Ensembl chr  X:4,806,277...4,945,944
JBrowse link
G Nras NRAS proto-oncogene, GTPase onset ISO RGD PMID:26082490 RGD:11535058 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO DNA:missense mutations, nonsense mutations, splice-site mutations:multiple RGD PMID:20693430 RGD:11038679 NCBI chr 2:238,719,389...238,802,975
Ensembl chr 2:238,720,835...238,803,024
JBrowse link
chronic neutrophilic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3r colony stimulating factor 3 receptor ISO DNA:mutation:exon:p.T618I(human) RGD PMID:24081659, PMID:23604229 RGD:10450482, RGD:10450483 NCBI chr 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600
JBrowse link
Congenital Bone Marrow Failure Syndromes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 ISO ClinVar Annotator: match by term: Inherited bone marrow failure syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:25741868, PMID:27346687 NCBI chr 2:60,419,446...60,446,656
Ensembl chr 2:60,419,525...60,446,510
JBrowse link
G Ercc6l2 ERCC excision repair 6 like 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:1,325,654...1,421,732
Ensembl chr17:1,305,016...1,421,685
JBrowse link
G Srp72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD 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
essential thrombocythemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg2b autophagy related 2B ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:129,449,451...129,519,599
Ensembl chr 6:129,449,449...129,509,720
JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:129,437,423...129,441,553
Ensembl chr 6:129,438,158...129,440,574
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:129,399,468...129,429,676
Ensembl chr 6:129,399,468...129,429,676
JBrowse link
G Calr calreticulin severity ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:187950
OMIM
ClinVar
PMID:24325356, PMID:24325359, PMID:24496303, PMID:25860380 RGD:11352751, RGD:11352747 NCBI chr19:25,956,771...25,961,666
Ensembl chr19:25,956,771...25,961,666
JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:14,150,309...14,191,498
Ensembl chr 4:14,001,761...14,249,749
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:22196954 RGD:11344979 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cux2 cut-like homeobox 2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar PMID:20404132 NCBI chr12:40,016,774...40,221,067
Ensembl chr12:40,018,937...40,219,291
JBrowse link
G Elane elastase, neutrophil expressed ISO protein:increased expression:plasma: RGD PMID:18768782 RGD:10450556 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Gskip GSK3B interacting protein ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:129,512,950...129,536,320
Ensembl chr 6:129,519,709...129,536,221
JBrowse link
G Jak2 Janus kinase 2 severity ISO DNA:mutation: :p.V617F (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15781101, PMID:15858187, PMID:16484586, PMID:16896569, PMID:19154659, PMID:19636672, PMID:20434300, PMID:21942426, PMID:23130336 RGD:10449178 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G LOC100909954 uncharacterized LOC100909954 ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:129,259,581...129,322,113 JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO
ISS
DNA:missense mutation:cds:pS505N (human)
ClinVar Annotator: match by term: Thrombocythemia 1
ClinVar Annotator: match by term: Essential thrombocythemia
OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521
ClinVar Annotator: match by term: THROMBOCYTOSIS 1
mRNA, protein:decreased expression:blood, platelet (human)
ClinVar
MouseDO
PMID:14764528, PMID:15269348, PMID:15531462, PMID:17054430, PMID:18451306, PMID:18528423, PMID:19483125, PMID:19608689, PMID:20151976, PMID:23970983, PMID:24728327, PMID:25741868, PMID:28492532, PMID:28697167, PMID:14764528, PMID:11122159 RGD:10449014, RGD:10449016 NCBI chr 5:137,268,412...137,282,032
Ensembl chr 5:137,269,480...137,281,298
JBrowse link
G Myb MYB proto-oncogene, transcription factor ISS OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 MouseDO NCBI chr 1:16,658,178...16,690,135
Ensembl chr 1:16,659,442...16,687,817
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr12:17,734,141...17,756,186
Ensembl chr12:17,734,133...17,755,285
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Idiopathic thrombocythemia
ClinVar Annotator: match by term: Essential thrombocythemia
ClinVar Annotator: match by OMIM:187950
OMIM
ClinVar
PMID:15705783, PMID:20404132, PMID:25741868, PMID:27651169, PMID:28484264, PMID:29590070 NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
JBrowse link
G Tcl1a Tcl1 family Akt coactivator A ISO ClinVar Annotator: match by term: Essential thrombocythemia ClinVar NCBI chr 6:128,888,768...128,894,761
Ensembl chr 6:128,888,768...128,894,761
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 1:82,480,875...82,497,196
Ensembl chr 1:82,480,195...82,497,199
JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Thrombocythemia 1
ClinVar Annotator: match by OMIM:187950
DNA:mutation:splice junction:
OMIM
ClinVar
PMID:7772529, PMID:9425899, PMID:9694695, PMID:10583217, PMID:19553636, PMID:25741868, PMID:28492532, PMID:9425899 RGD:1580083 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 Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:24434346 RGD:11354980 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:25876231 RGD:11073823 NCBI chr 4:158,085,059...158,219,525
Ensembl chr 4:158,088,505...158,219,523
JBrowse link
familial chronic myelocytic leukemia-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf8 interferon regulatory factor 8 ISS OMIM:600080 MouseDO NCBI chr19:54,314,859...54,336,643
Ensembl chr19:54,314,865...54,336,640
JBrowse link
familial erythrocytosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epor erythropoietin receptor no_association ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign
ClinVar Annotator: match by term: Familial erythrocytosis, 1
ClinVar Annotator: match by OMIM:133100
DNA:deletion mutation:exon:
DNA:nonsense mutation:exon:5881G>T(human)
DNA:nonsense mutation:cds:6002G>A(human)
DNA:nonsense mutation:cds:1251G>T(human)
OMIM
ClinVar
PMID:1653276, PMID:1954391, PMID:4052634, PMID:7795221, PMID:8093406, PMID:8174675, PMID:8506290, PMID:8608241, PMID:9292543, PMID:9394420, PMID:9488636, PMID:9649565, PMID:10498627, PMID:17488692, PMID:24115288, PMID:26010769, PMID:28492532, PMID:9192789, PMID:11929803, PMID:9394420, PMID:8506290, PMID:20700488 RGD:11041638, RGD:11041631, RGD:11041608, RGD:11041605, RGD:11041601 NCBI chr 8:22,969,737...22,974,468
Ensembl chr 8:22,969,745...22,974,321
JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign ClinVar PMID:15781101, PMID:15793561, PMID:15858187, PMID:16081687, PMID:16247455, PMID:16293597, PMID:16325696, PMID:16603627, PMID:16707754, PMID:16709929, PMID:16762626, PMID:17989398, PMID:18256599, PMID:18394554, PMID:19036091, PMID:19287384, PMID:19293426, PMID:20339092, PMID:20631743, PMID:20703299, PMID:21120162, PMID:21689158, PMID:22041374, PMID:22422826, PMID:22571758, PMID:22818858, PMID:22829971, PMID:23115274, PMID:24404189, PMID:24986690, PMID:25043017, PMID:25157968, PMID:25671252, PMID:25741868, PMID:32581362 NCBI chr 1:247,473,292...247,476,827
Ensembl chr 1:247,473,292...247,476,827
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign OMIM
ClinVar
PMID:15781101, PMID:15793561, PMID:15858187, PMID:16081687, PMID:16247455, PMID:16293597, PMID:16325696, PMID:16603627, PMID:16707754, PMID:16709929, PMID:16762626, PMID:17989398, PMID:18256599, PMID:18394554, PMID:19036091, PMID:19287384, PMID:19293426, PMID:20339092, PMID:20631743, PMID:20703299, PMID:21120162, PMID:21689158, PMID:22041374, PMID:22422826, PMID:22571758, PMID:22818858, PMID:22829971, PMID:23115274, PMID:24404189, PMID:24986690, PMID:25043017, PMID:25157968, PMID:25671252, PMID:25741868, PMID:32581362 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Familial erythrocytosis, 1
ClinVar Annotator: match by OMIM:133100
OMIM
ClinVar
PMID:15705783, PMID:20843259, PMID:25741868, PMID:27651169, PMID:28484264, PMID:29590070 NCBI chr12:40,261,990...40,265,757
Ensembl chr12:40,244,081...40,265,757
JBrowse link
familial erythrocytosis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 2 ClinVar PMID:8634692, PMID:10567493, PMID:10830910, PMID:17537157, PMID:19280651, PMID:19764026, PMID:20567917, PMID:28492532 NCBI chr 4:145,559,206...145,574,438
Ensembl chr 4:145,559,206...145,574,438
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 2 ClinVar PMID:8634692, PMID:10567493, PMID:10830910, PMID:17537157, PMID:19280651, PMID:19764026, PMID:20567917, 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: Erythrocytosis, familial, 2 ClinVar PMID:8634692, PMID:10567493, PMID:10830910, PMID:17537157, PMID:19280651, PMID:19764026, PMID:20567917, PMID:28492532 NCBI chr 4:145,549,248...145,556,054
Ensembl chr 4:145,552,270...145,555,748
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:21685897 RGD:6483049 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 2
ClinVar Annotator: match by term: POLYCYTHEMIA, VHL-DEPENDENT
OMIM
ClinVar
PMID:982991, PMID:1056348, PMID:2101665, PMID:7553625, PMID:7563486, PMID:7660122, PMID:7728151, PMID:7759077, PMID:7784063, PMID:7915601, PMID:7977367, PMID:7987306, PMID:7987327, PMID:8069305, PMID:8187067, PMID:8239848, PMID:8270255, PMID:8493574, PMID:8522307, PMID:8592333, PMID:8634692, PMID:8641976, PMID:8707293, PMID:8730290, PMID:8772572, PMID:8825918, PMID:8825919, PMID:8863170, PMID:8956040, PMID:9058738, PMID:9156047, PMID:9209471, PMID:9215674, PMID:9329368, PMID:9398721, PMID:9399847, PMID:9447969, PMID:9452032, PMID:9663592, PMID:9671762, PMID:9681856, PMID:9751722, PMID:9770531, PMID:9829911, PMID:9829912, PMID:9880225, PMID:10088816, PMID:10102622, PMID:10205047, PMID:10326868, PMID:10340905, PMID:10364675, PMID:10408776, PMID:10458336, PMID:10563480, PMID:10567493, PMID:10570625, PMID:10587522, PMID:10612827, PMID:10627136, PMID:10761708, PMID:10766184, PMID:10823831, PMID:10830910, PMID:10862095, PMID:10878807, PMID:10900011, PMID:11024059, PMID:11058902, PMID:11106358, PMID:11114638, PMID:11257211, PMID:11309459, PMID:11331612, PMID:11331613, PMID:11409863, PMID:11483638, PMID:11505222, PMID:11536052, PMID:11709017, PMID:11739384, PMID:11865071, PMID:11921283, PMID:11986208, PMID:11987242, PMID:12000816, PMID:12004076, PMID:12050673, PMID:12081237, PMID:12114495, PMID:12202531, PMID:12351569, PMID:12393546, PMID:12414898, PMID:12415268, PMID:12500216, PMID:12510195, PMID:12538644, PMID:12603429, PMID:12624160, PMID:12702509, PMID:12807974, PMID:12844285, PMID:12853836, PMID:12912922, PMID:13985160, PMID:14500403, PMID:14556007, PMID:14604959, PMID:14691445, PMID:14722919, PMID:14726398, PMID:14767570, PMID:14973063, PMID:14987375, PMID:15002726, PMID:15109448, PMID:15177666, PMID:15300849, PMID:15574766, PMID:15607616, PMID:15611064, PMID:15642664, PMID:15642680, PMID:15881703, PMID:15921368, PMID:15921386, PMID:15932632, PMID:16142346, PMID:16210343, PMID:16261165, PMID:16314641, PMID:16452184, PMID:16488999, PMID:16502427, PMID:16505488, PMID:16572651, PMID:16595991, PMID:16669786, PMID:16775032, PMID:16809612, PMID:16868829, PMID:16884327, PMID:16884328, PMID:16952288, PMID:16969113, PMID:17006605, PMID:17024664, PMID:17102069, PMID:17102080, PMID:17102082, PMID:17102083, PMID:17102088, PMID:17264095, PMID:17350623, PMID:17392848, PMID:17406817, PMID:17526729, PMID:17537157, PMID:17640059, PMID:17661816, PMID:17688370, PMID:17906660, PMID:17922902, PMID:17967880, PMID:17992257, PMID:18205710, PMID:18446368, PMID:18544564, PMID:18551016, PMID:18567581, PMID:18580449, PMID:18584357, PMID:18676741, PMID:18685280, PMID:18836774, PMID:19009041, PMID:19029228, PMID:19030229, PMID:19215943, PMID:19228690, PMID:19252526, PMID:19258401, PMID:19270817, PMID:19280651, PMID:19293973, PMID:19304954, PMID:19336503, PMID:19408298, PMID:19464396, PMID:19494350, PMID:19574279, PMID:19602254, PMID:19620968, PMID:19763184, PMID:19764026, PMID:19808854, PMID:19814753, PMID:19906784, PMID:19949673, PMID:19958924, PMID:19996202, PMID:20034980, PMID:20054297, PMID:20064270, PMID:20120764, PMID:20151405, PMID:20233476, PMID:20351605, PMID:20388653, PMID:20447124, PMID:20518900, PMID:20567917, PMID:20583150, PMID:20660572, PMID:20846682, PMID:20850701, PMID:20855504, PMID:20952280, PMID:21204227, PMID:21258414, PMID:21362373, PMID:21389259, PMID:21454469, PMID:21463266, PMID:21606165, PMID:21685897, PMID:21713522, PMID:21715564, PMID:21876117, PMID:21972040, PMID:21993671, PMID:22071692, PMID:22105611, PMID:22105711, PMID:22156657, PMID:22234250, PMID:22241717, PMID:22357542, PMID:22393103, PMID:22438210, PMID:22462637, PMID:22517557, PMID:22649785, PMID:22683710, PMID:22703879, PMID:22799452, PMID:22825683, PMID:23015148, PMID:23036577, PMID:23070752, PMID:23102223, PMID:23143947, PMID:23327821, PMID:23384228, PMID:23403324, PMID:23407287, PMID:23434161, PMID:23512077, PMID:23538339, PMID:23541568, PMID:23606570, PMID:23626751, PMID:23632291, PMID:23660872, PMID:23772956, PMID:23788753, PMID:23840444, PMID:23842656, PMID:23845641, PMID:23859443, PMID:23990664, PMID:23990666, PMID:24033266, PMID:24055113, PMID:24102379, PMID:24115288, PMID:24132471, PMID:24134185, PMID:24206762, PMID:24301059, PMID:24339559, PMID:24446253, PMID:24466223, PMID:24518179, PMID:24555745, PMID:24581539, PMID:24583008, PMID:24678776, PMID:24707167, PMID:24727139, PMID:24728327, PMID:24729484, PMID:24969085, PMID:24977658, PMID:25069792, PMID:25078357, PMID:25119015, PMID:25157968, PMID:25282218, PMID:25371412, PMID:25557216, PMID:25562111, PMID:25563310, PMID:25583177, PMID:25586603, PMID:25637381, PMID:25715769, PMID:25720320, PMID:25741868, PMID:25867206, PMID:25952756, PMID:25966224, PMID:25985138, PMID:26206375, PMID:26211615, PMID:26224408, PMID:26268347, PMID:26323595, PMID:26332594, PMID:26467025, PMID:26503325, PMID:26580448, PMID:26681312, PMID:26822237, PMID:26845104, PMID:26920352, PMID:26973240, PMID:27034144, PMID:27057652, PMID:27146957, PMID:27311873, PMID:27439424, PMID:27498913, PMID:27527340, PMID:27530247, PMID:27539324, PMID:27578599, PMID:27617348, PMID:27651169, PMID:27682873, PMID:27730413, PMID:27785399, PMID:27811160, PMID:28052007, PMID:28202063, PMID:28379443, PMID:28388566, PMID:28454591, PMID:28469506, PMID:28492532, PMID:28503092, PMID:28643803, PMID:28775317, PMID:28873162, PMID:28944243, PMID:29124493, PMID:29616089, PMID:29748190, PMID:29749453, PMID:29790589, PMID:29871882, PMID:29891534, PMID:29949369, PMID:30042107, PMID:30105105, PMID:30311386, PMID:30338240, PMID:30477447, PMID:30943211, PMID:31034483, PMID:31149315, PMID:31337753, PMID:31779674, PMID:32238909 NCBI chr 4:145,580,869...145,587,835
Ensembl chr 4:145,580,799...145,587,845
JBrowse link
familial erythrocytosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egln1 egl-9 family hypoxia-inducible factor 1 ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 3
ClinVar Annotator: match by OMIM:609820
OMIM
ClinVar
PMID:16407130, PMID:17579185, PMID:19092153, PMID:24482100, PMID:25741868, PMID:28492532, PMID:29790589 NCBI chr19:57,660,194...57,701,158
Ensembl chr19:57,662,278...57,699,113
JBrowse link
familial erythrocytosis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epas1 endothelial PAS domain protein 1 ISO ClinVar Annotator: match by term: Erythrocytosis, familial, 4
ClinVar Annotator: match by OMIM:611783
OMIM
ClinVar
PMID:18184961, PMID:18378852, PMID:19208626, PMID:25741868, PMID:28492532 NCBI chr 6:10,306,508...10,385,239
Ensembl chr 6:10,306,405...10,387,265
JBrowse link
familial erythrocytosis 5 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: ERYTHROCYTOSIS, FAMILIAL, 5 ClinVar
OMIM
PMID:27651169, PMID:29514032 NCBI chr12:22,274,828...22,278,268
Ensembl chr12:22,274,828...22,278,266
JBrowse link
familial erythrocytosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hbb hemoglobin subunit beta ISO ClinVar Annotator: match by term: ERYTHROCYTOSIS 6
ClinVar Annotator: match by term: POLYCYTHEMIA, BETA-GLOBIN TYPE
ClinVar Annotator: match by term: Erythrocytosis 6, familial
ClinVar
OMIM
PMID:124, PMID:14973, PMID:20942, PMID:27132, PMID:29054, PMID:88735, PMID:234980, PMID:239863, PMID:563749, PMID:639985, PMID:678476, PMID:750556, PMID:826083, PMID:903694, PMID:949044, PMID:1052179, PMID:1052180, PMID:1117598, PMID:1164510, PMID:1164511, PMID:1246355, PMID:1249207, PMID:1390250, PMID:1427786, PMID:1463768, PMID:1483699, PMID:1634236, PMID:1634368, PMID:1734721, PMID:1769663, PMID:1917531, PMID:1967205, PMID:2004023, PMID:2200760, PMID:2298457, PMID:2446680, PMID:2577233, PMID:2703368, PMID:2713503, PMID:2867271, PMID:2898955, PMID:2903765, PMID:3114176, PMID:3207692, PMID:3348204, PMID:3422218, PMID:3462712, PMID:3623972, PMID:3691763, PMID:3839762, PMID:3930571, PMID:3935609, PMID:3957694, PMID:4338724, PMID:4342316, PMID:4413656, PMID:4514629, PMID:4639015, PMID:4683875, PMID:4719677, PMID:4742453, PMID:4808644, PMID:5011106, PMID:5026295, PMID:5073564, PMID:5080413, PMID:5128393, PMID:5280664, PMID:5282843, PMID:5347519, PMID:5492847, PMID:5651043, PMID:5687529, PMID:5773089, PMID:5775133, PMID:5796352, PMID:6061751, PMID:6061752, PMID:6067323, PMID:6162860, PMID:6166590, PMID:6188062, PMID:6189507, PMID:6190800, PMID:6264391, PMID:6264477, PMID:6270663, PMID:6280057, PMID:6304979, PMID:6457059, PMID:6500987, PMID:6546989, PMID:6583702, PMID:6585831, PMID:6589624, PMID:6629830, PMID:6714226, PMID:6745619, PMID:6874372, PMID:6896219, PMID:7097767, PMID:7151176, PMID:7158624, PMID:7161106, PMID:7204092, PMID:7204093, PMID:7312624, PMID:7417488, PMID:7522523, PMID:7558878, PMID:7615400, PMID:7668219, PMID:8095930, PMID:8168595, PMID:8330981, PMID:8373896, PMID:8602996, PMID:8619407, PMID:8917506, PMID:9048934, PMID:9101280, PMID:9101288, PMID:9140720, PMID:9401495, PMID:9490703, PMID:10335979, PMID:10335989, PMID:10612821, PMID:10722117, PMID:11559932, PMID:11857746, PMID:11939509, PMID:11939510, PMID:12144057, PMID:12764548, PMID:14081243, PMID:14117783, PMID:14576320, PMID:15108284, PMID:15654898, PMID:16291734, PMID:16311287, PMID:16470532, PMID:17331080, PMID:17365006, PMID:17795074, PMID:18294253, PMID:18603555, PMID:18818920, PMID:19000664, PMID:19254853, PMID:19429541, PMID:20132300, PMID:20301599, PMID:20395516, PMID:20412082, PMID:20437613, PMID:20704537, PMID:21119755, PMID:21228398, PMID:21389146, PMID:21417574, PMID:21797703, PMID:22271886, PMID:22335963, PMID:22392582, PMID:22975760, PMID:23162295, PMID:23234478, PMID:23321370, PMID:23348723, PMID:23425204, PMID:23590658, PMID:23637309, PMID:23859443, PMID:24033266, PMID:24857915, PMID:25087612, PMID:25089872, PMID:25155404, PMID:25332589, PMID:25525159, PMID:25572186, PMID:25741868, PMID:25849334, PMID:25856402, PMID:26029792, PMID:26097845, PMID:26193974, PMID:26467025, PMID:26635043, PMID:27263053, PMID:27427187, PMID:27690257, PMID:27821015, PMID:28366028, PMID:28391758, PMID:28492532, PMID:28635337, PMID:28670940, PMID:29695942, PMID:30311386, PMID:31714438, PMID:32581362, PMID:32860008 NCBI chr 1:168,971,269...168,972,680
Ensembl chr 1:168,971,274...168,972,725
JBrowse link
familial erythrocytosis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hba-a2 hemoglobin alpha, adult chain 2 ISO ClinVar Annotator: match by term: ERYTHROCYTOSIS 7 ClinVar
OMIM
PMID:11123, PMID:701083, PMID:701092, PMID:1390944, PMID:1428951, PMID:1517114, PMID:1634355, PMID:2268670, PMID:3142772, PMID:3583768, PMID:3667323, PMID:3718876, PMID:5913291, PMID:5967288, PMID:5988206, PMID:6188720, PMID:7213661, PMID:7518430, PMID:8745434, PMID:9494049 NCBI chr10:15,589,364...15,590,207
Ensembl chr10:15,589,364...15,590,220
JBrowse link
familial erythrocytosis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpgm bisphosphoglycerate mutase ISO ClinVar Annotator: match by term: BISPHOSPHOGLYCERATE MUTASE DEFICIENCY
DNA:point mutation, deletion: :p.R89C (human)
ClinVar Annotator: match by OMIM:222800
OMIM
ClinVar
PMID:152321, PMID:1421379, PMID:2542247, PMID:15054810, PMID:25015942, PMID:1421379 RGD:1600522 NCBI chr 4:61,912,210...61,940,697
Ensembl chr 4:61,912,210...61,940,696
JBrowse link
Familial Myelofibrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO RGD PMID:12149188 RGD:10450737 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066
JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23599270 NCBI chr 2:198,123,747...198,184,739
Ensembl chr 2:198,123,748...198,184,739
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
Ghosal Hematodiaphyseal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbxas1 thromboxane A synthase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ghosal syndrome
ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome
ClinVar Annotator: match by OMIM:231095
OMIM
CTD
ClinVar
PMID:17203301, PMID:18264100, PMID:25741868 NCBI chr 4:66,624,181...66,846,745
Ensembl chr 4:66,670,618...66,846,805
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
Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc30a10 solute carrier family 30, member 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22341971, PMID:22926781 NCBI chr13:103,396,295...103,406,759
Ensembl chr13:103,396,314...103,410,363
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
juvenile myelomonocytic leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akap12 A-kinase anchoring protein 12 disease_progression ISO RGD PMID:26891149 RGD:14348967 NCBI chr 1:40,816,130...40,906,582
Ensembl chr 1:40,816,107...40,906,581
JBrowse link
G Arhgap26 Rho GTPase activating protein 26 ISO ClinVar Annotator: match by OMIM:607785 OMIM
ClinVar
PMID:10908648 NCBI chr18:31,807,052...32,557,176
Ensembl chr18:31,812,109...32,207,801
JBrowse link
G Asxl1 ASXL transcriptional regulator 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
CTD
ClinVar
PMID:25741868, PMID:26457647, PMID:32581362 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Cbl Cbl proto-oncogene ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:19571318, PMID:19620960, PMID:20543203, PMID:20694012, PMID:20955399, PMID:21901340, PMID:22315502, PMID:24033266, PMID:25283271, PMID:25741868, PMID:25939664, PMID:25952305, PMID:26457647, PMID:27609087, PMID:28343148, PMID:28414188, PMID:28492532, PMID:19571318 RGD:11038806 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Csf2 colony stimulating factor 2 treatment ISO CTD Direct Evidence: marker/mechanism CTD PMID:22315502, PMID:9389708