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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:A hematopoietic system disease that is located_in the bone marrow. (DO)
Synonyms:exact_synonym: bone marrow diseases;   bone marrow disorder
 related_synonym: bone marrow hypocellularity
 primary_id: MESH:D001855
 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 chr19:20,549,298...20,621,991
Ensembl chr19:20,549,405...20,620,734
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Dcc DCC netrin 1 receptor ISO ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:25741868 NCBI chr18:64,868,987...65,972,783
Ensembl chr18:64,873,898...65,972,740
JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:25741868 PMID:26712909 PMID:27133828 PMID:27795557 PMID:28492532 More... NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha ISO RGD PMID:25416277 RGD:11041127 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Ercc6l2 ERCC excision repair 6 like 2 ISO ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:25741868 PMID:29987015 NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275
JBrowse link
G Foxp3 forkhead box P3 ISO ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:11137992 PMID:11295725 PMID:20650610 PMID:23534934 PMID:25546394 More... NCBI chr  X:14,908,494...14,924,994
Ensembl chr  X:14,908,494...14,923,838
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 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Nqo2 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12351651 NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320
JBrowse link
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Bone marrow hypocellularity ClinVar PMID:25741868 NCBI chr 7:1,057,332...1,058,882 JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18252230 NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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 More... NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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 chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
JBrowse link
G Flt3 Fms related receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:increased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link
G Hoxb9 homeo box B9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr10:81,237,312...81,240,818
Ensembl chr10:81,237,312...81,240,818
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Npm1 nucleophosmin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
JBrowse link
G Nup98 nucleoporin 98 and 96 precursor ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Tp53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926971 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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 term: Alpha-thalassemia myelodysplasia syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9326931 PMID:10995512 PMID:12858175 PMID:16955409 PMID:20500465 More... NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
AMED syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adh5 alcohol dehydrogenase 5 (class III), chi polypeptide ISO ClinVar Annotator: match by term: AMED syndrome, digenic OMIM
ClinVar
PMID:25741868 PMID:33355142 NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
JBrowse link
G Aldh2 aldehyde dehydrogenase 2 family member ISO ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC ClinVar PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 More... NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
JBrowse link
G Cd40lg CD40 ligand ISO protein:decreased expression:serum (human) RGD PMID:22537155 RGD:11352267 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cd86 CD86 molecule ISO protein:increased expression:blood, dendritic cell (human) RGD PMID:21234821 RGD:11354968 NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
JBrowse link
G Csf2 colony stimulating factor 2 ISO CTD Direct Evidence: therapeutic CTD PMID:9885444 PMID:12221670 NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
JBrowse link
G Csf3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 More... NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Ddx41 DEAD-box helicase 41 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO DNA:missense mutations:exon:p.V105G, p.S121A (human) RGD PMID:26360549 RGD:11251733
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 chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
JBrowse link
G Fancm FA complementation group M ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:28881617 PMID:29351780 More... NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
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 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO RGD PMID:16212902 RGD:1582425 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Flt3lg Fms related receptor tyrosine kinase 3 ligand ISO protein:increased expression:serum,plasma: RGD PMID:7492765 RGD:11049505 NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
JBrowse link
G Gata2 GATA binding protein 2 ISO mRNA:decreased expression:CD34+ cell RGD PMID:11328281 RGD:11049519 NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
JBrowse link
G Gfi1b growth factor independent 1B transcriptional repressor ISO mRNA:decreased expression:bone marrow cell: RGD PMID:17156408 RGD:11040507 NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility ISO in male RGD PMID:16079101 RGD:10450858 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association
ISO RGD PMID:14681495 PMID:16227674 RGD:10450790, RGD:10450878 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Ifng interferon gamma susceptibility
treatment
ISO
ISS
OMIM:609135
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aplastic anemia
DNA:polymorphism: : 874A>T(human)
DNA:repeats,haplotype:intron: -2,353 A>T(human)
DNA:repeats:intron:
OMIM
MouseDO
CTD
ClinVar
RGD
PMID:18426658 PMID:20953611 PMID:15327519 RGD:10755710, RGD:10755690, RGD:10755688 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase severity IMP RGD PMID:7694680 RGD:12910751 NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2952226 PMID:9536098 PMID:9590180 PMID:9590181 PMID:9620777 More... NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
JBrowse link
G Pola1 DNA polymerase alpha 1, catalytic subunit ISO ClinVar Annotator: match by term: Inherited aplastic anemia ClinVar PMID:25741868 NCBI chr  X:58,034,617...58,348,612
Ensembl chr  X:58,034,619...58,348,536
JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Inherited aplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
JBrowse link
G Prf1 perforin 1 ISO ClinVar Annotator: match by term: Aplastic anemia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1156555 PMID:7851014 PMID:9536098 PMID:10583959 PMID:11179007 More... NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
JBrowse link
G Rasa3 RAS p21 protein activator 3 ISS OMIM:609135 MouseDO NCBI chr16:75,855,360...75,969,349
Ensembl chr16:75,855,265...75,970,804
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:25741868 NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
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 chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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 chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Sbds Sbds, ribosome maturation factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aplastic anemia
CTD
OMIM
ClinVar
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
JBrowse link
G Terc telomerase RNA component ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:12090986 PMID:12676774 PMID:12972604 PMID:15082312 PMID:15098033 More... NCBI chr 2:112,815,654...112,816,041 JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: Aplastic anemia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:12167716 PMID:15814878 PMID:15885610 PMID:16332973 PMID:16627250 More... RGD:11038668 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Tinf2 TERF1 interacting nuclear factor 2 ISO ClinVar Annotator: match by term: Aplastic anemia ClinVar PMID:20301779 NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
JBrowse link
G Tnf tumor necrosis factor ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:12941546 RGD:10449452 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Zcchc8 zinc finger CCHC-type containing 8 ISO ClinVar Annotator: match by term: Inherited aplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:32,869,170...32,892,707
Ensembl chr12:32,869,310...32,891,325
JBrowse link
atypical chronic myeloid leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO RGD PMID:15050920 RGD:11352668 NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
JBrowse link
G Mfsd11 major facilitator superfamily domain containing 11 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr10:102,055,516...102,075,064
Ensembl chr10:102,056,051...102,075,064
JBrowse link
G Runx1 RUNX family transcription factor 1 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
JBrowse link
G Setbp1 SET binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23222956 NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
JBrowse link
G Srsf2 serine and arginine rich splicing factor 2 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
JBrowse link
G Tet2 tet methylcytosine dioxygenase 2 ISO ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative ClinVar PMID:22905207 PMID:28492532 NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
JBrowse link
autosomal dominant sideroblastic anemia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Anemia, sideroblastic, 4 OMIM
ClinVar
PMID:3653362 PMID:25741868 PMID:26491070 PMID:28492532 NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
JBrowse link
G Slc25a38 solute carrier family 25, member 38 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive
OMIM
CTD
ClinVar
PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 More... NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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 OMIM
ClinVar
PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 More... NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21570118 NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:12740446 RGD:734951 NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:22139798 RGD:10755566 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Mir150 microRNA 150 ISO miRNA:decreased expression:leukocytes RGD PMID:21501493 RGD:13782140 NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
JBrowse link
G Tcn2 transcobalamin 2 ISO protein:increased expression:: RGD PMID:1059479 RGD:11060122 NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
JBrowse link
Bone Marrow Failure and Diabetes Mellitus Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Bone marrow failure and diabetes mellitus syndrome OMIM
ClinVar
PMID:9548420 PMID:25741868 PMID:28073829 PMID:35611808 PMID:35931051 NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771
JBrowse link
Bone Marrow Failure Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srp72 signal recognition particle 72 ISO ClinVar Annotator: match by term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22541560 PMID:25741868 PMID:28492532 NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729
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 term: ERCC6L2-related condition OMIM
ClinVar
PMID:24507776 PMID:25741868 PMID:27185855 PMID:28492532 PMID:29146883 More... NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275
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 Annotator: match by term: DNAJC21-related condition OMIM
ClinVar
PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 More... NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752
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 | ClinVar Annotator: match by term: MYSM1-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22184403 PMID:24288411 More... NCBI chr 5:109,761,345...109,826,652
Ensembl chr 5:109,776,286...109,819,967
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:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1975675 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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:25741868 PMID:32300648 NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226
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 chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
JBrowse link
G Tp53 tumor protein p53 disease_progression ISO RGD PMID:24761810 RGD:11073734 NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
chronic myelogenous leukemia, BCR-ABL1 positive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:10988075 PMID:11423618 PMID:11567109 PMID:11569495 PMID:11853795 More... NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:25741868 PMID:28492532 NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:24033266 PMID:24446311 PMID:25157968 PMID:26619011 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Csf3r colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:23604229 PMID:23634996 PMID:23656643 PMID:24081659 PMID:24403076 More... NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:16307017 PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:2278970 PMID:3122217 PMID:8439212 PMID:15696205 PMID:16361624 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:2278970 PMID:2674680 PMID:3122217 PMID:8120410 PMID:12460918 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:18398855 PMID:18414213 PMID:20436468 PMID:21371013 PMID:23222956 More... NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive ClinVar PMID:23395771 PMID:25741868 NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Abl1 ABL proto-oncogene 1, non-receptor tyrosine kinase susceptibility
treatment
ISO ClinVar Annotator: match by term: ABL1-related disorder | ClinVar Annotator: match by term: Leukemia, Philadelphia chromosome-positive, resistant to imatinib
CTD Direct Evidence: marker/mechanism
DNA:gene fusion
DNA:missense mutations: :multiple
ClinVar
CTD
OMIM
RGD
PMID:10988075 PMID:11423618 PMID:11569495 PMID:11853795 PMID:11861307 More... RGD:1598673, RGD:13674161, RGD:11038814, RGD:14392796, RGD:11038807 NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
JBrowse link
G Abl2 ABL proto-oncogene 2, non-receptor tyrosine kinase TAS RGD PMID:7773298 RGD:1298615 NCBI chr13:68,673,702...68,770,846
Ensembl chr13:68,673,722...68,839,742
JBrowse link
G Ace angiotensin I converting enzyme ISO RGD PMID:19761684 RGD:11039056 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Agt angiotensinogen ISO RGD PMID:19761684 RGD:11039056 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Akt1 AKT serine/threonine kinase 1 ISO protein:increased phosphorylation:blood RGD PMID:17900686 RGD:13674160 NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
JBrowse link
G Alox5 arachidonate 5-lipoxygenase ISO CTD Direct Evidence: therapeutic CTD PMID:19503090 PMID:19823023 NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
JBrowse link
G Bcl2l1 Bcl2-like 1 ISO RGD PMID:20728382 RGD:11353850 NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
JBrowse link
G Bcr BCR activator of RhoGEF and GTPase susceptibility
treatment
disease_progression
ISO DNA:gene fusion
CTD Direct Evidence: marker/mechanism
BCR/ABL fusion
DNA:methylation: :
DNA:translocations:cds:
CTD
OMIM
RGD
PMID:15604220 PMID:18673174 PMID:21908430 PMID:33070465 PMID:3101769 More... RGD:1600510, RGD:41404631, RGD:13674161, RGD:14392796, RGD:11038783, RGD:11038776, RGD:11038775 NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
JBrowse link
G Birc5 baculoviral IAP repeat-containing 5 ISO CTD Direct Evidence: therapeutic CTD PMID:16254145 NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
JBrowse link
G Bmal1 basic helix-loop-helix ARNT like 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:24033266 PMID:24446311 PMID:25157968 PMID:26619011 NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Car9 carbonic anhydrase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
JBrowse link
G Casp6 caspase 6 treatment ISO human cells in mouse model RGD PMID:31952546 RGD:151667904 NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502
JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cd40 CD40 molecule ISO protein:increased expression:peripheral blood, dendritic cell (human) RGD PMID:16527350 RGD:11520794 NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A treatment ISO RGD PMID:16533530 RGD:11251777 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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 8:15,374,356...15,398,436
Ensembl chr 8:15,374,471...15,399,162
JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISO protein:increased phosphorylation:blood RGD PMID:17900686 RGD:13674160 NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
JBrowse link
G Cry1 cryptochrome circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 7:18,529,823...18,594,092
Ensembl chr 7:18,529,823...18,594,091
JBrowse link
G Cry2 cryptochrome circadian regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965
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 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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 chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
JBrowse link
G Dnmt1 DNA methyltransferase 1 disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
JBrowse link
G Dnmt3a DNA methyltransferase 3 alpha disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta disease_progression ISO RGD PMID:11222358 RGD:9588667 NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
JBrowse link
G E2f1 E2F transcription factor 1 ISO mRNA:increased expression:blood RGD PMID:26460262 RGD:13674165 NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand susceptibility ISO DNA:polymorphism:promoter: -844 T>C(human) RGD PMID:26563376 RGD:11049146 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Fcgr2a Fc gamma receptor 2A ISO RGD PMID:8632671 RGD:11344957 NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO mRNA:increased expression:peripheral blood (human) RGD PMID:14562121 RGD:36947884 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
JBrowse link
G Gab2 GRB2-associated binding protein 2 disease_progression ISO protein:increased expression:bone marrow RGD PMID:22858987 RGD:13699433 NCBI chr 1:151,429,844...151,625,708
Ensembl chr 1:151,429,695...151,625,031
JBrowse link
G Gpx1 glutathione peroxidase 1 no_association ISO DNA:polymorphism: :p.P198L (human) RGD PMID:25436036 RGD:11352762 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20843134 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
JBrowse link
G Hes1 hes family bHLH transcription factor 1 IMP rat gene in a mouse model RGD PMID:19861684 RGD:9685380 NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
JBrowse link
G Hmmr hyaluronan-mediated motility receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr10:25,132,933...25,163,029
Ensembl chr10:25,132,977...25,163,060
JBrowse link
G Hmox1 heme oxygenase 1 ISO RGD PMID:22139798 RGD:10755566 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23777986 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
JBrowse link
G Il10 interleukin 10 treatment ISO RGD PMID:20305143 RGD:11049154 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
JBrowse link
G Il1b interleukin 1 beta severity ISO RGD PMID:7949186 RGD:10450889 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist severity ISO RGD PMID:7949186 RGD:10450889 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:2278970 PMID:3122217 PMID:8439212 PMID:15696205 PMID:16361624 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Mapk14 mitogen activated protein kinase 14 ISO CTD Direct Evidence: therapeutic CTD PMID:16818652 NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
JBrowse link
G Mdm2 MDM2 proto-oncogene onset ISO DNA:SNP:promoter:rs2279744(human) RGD PMID:23818300 RGD:13703044 NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
JBrowse link
G Mir150 microRNA 150 ISO miRNA:decreased expression:leukocytes RGD PMID:21501493 RGD:13782140 NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
JBrowse link
G Mlf1 myeloid leukemia factor 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr 2:151,648,492...151,681,654
Ensembl chr 2:151,648,511...151,681,652
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO DNA:SNPs: :677C>T, 1298A>C(human) RGD PMID:17156840 RGD:10449408 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Ncstn nicastrin ISS OMIM:608232 MouseDO NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
JBrowse link
G Npm1 nucleophosmin 1 ISO RGD PMID:15659732 RGD:1600902 NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO DNA:SNP: :609C>T (human) RGD PMID:16235982 RGD:10769357 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:2278970 PMID:2674680 PMID:3122217 PMID:8120410 PMID:12460918 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:serum (human) RGD PMID:16521495 RGD:11552593 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
JBrowse link
G Per1 period circadian regulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
JBrowse link
G Per2 period circadian regulator 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
JBrowse link
G Per3 period circadian regulator 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16999817 NCBI chr 5:161,460,228...161,495,404
Ensembl chr 5:161,459,533...161,495,607
JBrowse link
G Pramex1 PRAME like, X-linked 1 ISO mRNA:increased expression:mononuclear cell (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17157168 PMID:20838376 RGD:11535035 NCBI chr  X:98,567,994...98,574,654
Ensembl chr  X:98,569,415...98,572,096
JBrowse link
G Prtn3 proteinase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944
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 chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
JBrowse link
G RT1-Bb RT1 class II, locus Bb ISO DNA:polymorphism, haplotype RGD PMID:17893434 RGD:11041777 NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
JBrowse link
G Sf3b1 splicing factor 3b, subunit 1 ISO ClinVar Annotator: match by term: Chronic myelogenous leukemia ClinVar PMID:23395771 PMID:25741868 NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISS OMIM:608232 MouseDO NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISS OMIM:608232 MouseDO NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA:decreased expression:blood RGD PMID:29951173 RGD:13782079 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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 chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
JBrowse link
G Stat5a signal transducer and activator of transcription 5A disease_progression
treatment
ISO human cells in mouse model
mRNA:increased expression:PBMC (human)
RGD PMID:16522816 PMID:31952546 PMID:31952546 RGD:151667903, RGD:151667904, RGD:151667904 NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
JBrowse link
G Tert telomerase reverse transcriptase ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:17157168 PMID:15068898 RGD:11038663 NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO protein:increased expression:serum RGD PMID:29951173 RGD:13782079 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Usp15 ubiquitin specific peptidase 15 ISO mRNA, protein:decreased expression:PBMC (human) RGD PMID:31952546 RGD:151667904 NCBI chr 7:58,756,714...58,848,778
Ensembl chr 7:58,756,872...58,848,721
JBrowse link
G Vegfa vascular endothelial growth factor A susceptibility ISO DNA:SNP,haplotype: :(rs6999470),(rs833061)(human) RGD PMID:19141860 RGD:13432135 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:17157168 NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
JBrowse link
G Cdkn2b cyclin-dependent kinase inhibitor 2B ISO DNA:altered methylation:5'UTR: RGD PMID:12750705 RGD:11252180 NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
JBrowse link
G Csf3r colony stimulating factor 3 receptor disease_progression ISO DNA:mutations:multiples: RGD PMID:23774674 RGD:10450469 NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
JBrowse link
G Kdm6a lysine demethylase 6A ISS MouseDO NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Nras NRAS proto-oncogene, GTPase onset ISO RGD PMID:26082490 RGD:11535058 NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inherited bone marrow failure syndrome
CTD
ClinVar
PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 More... NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752
JBrowse link
G Ercc6l2 ERCC excision repair 6 like 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275
JBrowse link
G Srp72 signal recognition particle 72 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729
JBrowse link
congenital hypoplastic anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841
JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Axl Axl receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
JBrowse link
G C1h19orf47 similar to human chromosome 19 open reading frame 47 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
JBrowse link
G Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
JBrowse link
G Ceacam15 CEA cell adhesion molecule 15 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:77,368,376...77,373,343
Ensembl chr 1:77,368,966...77,372,663
JBrowse link
G Ceacam4 CEA cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
JBrowse link
G Ceacam6 CEA cell adhesion molecule 6 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
JBrowse link
G Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887
JBrowse link
G Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
JBrowse link
G Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,416,107...82,429,897
Ensembl chr 1:82,416,130...82,429,896
JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20054847 PMID:25741868 PMID:28492532 NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
JBrowse link
G Dmac2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
JBrowse link
G Dmrtc2 DMRT-like family C2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531
JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751
JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:83,538,274...83,539,599 JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
G Erich4 glutamate-rich 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
JBrowse link
G Fcgbp Fc gamma binding protein ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:871527 PMID:3164080 PMID:12200364 PMID:14691578 PMID:15895080 More... NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
JBrowse link
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:67,730,117...67,771,170
Ensembl chr11:67,730,247...67,771,168
JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
JBrowse link
G Lgals5 galectin 5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011
JBrowse link
G Map3k10 mitogen activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,955,784...82,974,084
Ensembl chr 1:82,955,207...82,974,084
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
JBrowse link
G Numbl NUMB-like, endocytic adaptor protein ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776
JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763
JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
JBrowse link
G Rpl19 ribosomal protein L19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:83,022,503...83,026,030
Ensembl chr10:83,019,257...83,052,112
JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966
JBrowse link
G Rpl35a ribosomal protein L35A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr11:67,726,031...67,729,953
Ensembl chr11:67,726,032...67,729,942
Ensembl chr 5:67,726,032...67,729,942
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:20054847 PMID:25741868 PMID:28492532 NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044
Ensembl chr 6:5,694,313...5,699,044
JBrowse link
G Rps10l6 ribosomal protein S10 like 6 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr15:18,308,287...18,309,139 JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:9988267 PMID:10753603 PMID:12586610 PMID:12750732 PMID:15384984 More... NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:45,266,200...45,271,064
Ensembl chr 6:45,223,980...45,271,145
JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091
JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375
JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
JBrowse link
G Supt5h SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793
JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611
JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164
JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365
JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
JBrowse link
G Znf780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Congenital hypoplastic anemia ClinVar PMID:28492532 NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107
JBrowse link
Diamond-Blackfan anemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actmap actin maturation protease ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,490,313...82,499,841
Ensembl chr 1:82,490,363...82,499,841
JBrowse link
G Akt2 AKT serine/threonine kinase 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
JBrowse link
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
JBrowse link
G Arhgef1 Rho guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,499,026...80,520,954
Ensembl chr 1:80,499,131...80,520,953
JBrowse link
G Arhgef15 Rho guanine nucleotide exchange factor 15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr10:53,650,521...53,663,269
Ensembl chr10:53,650,553...53,663,913
JBrowse link
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918
JBrowse link
G Aurkb aurora kinase B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
JBrowse link
G Axl Axl receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
JBrowse link
G B3gnt8 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:81,135,602...81,138,501
Ensembl chr 1:81,135,499...81,142,263
JBrowse link
G B9d2 B9 domain containing 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
JBrowse link
G Bckdha branched chain keto acid dehydrogenase E1 subunit alpha ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:81,138,946...81,167,765
Ensembl chr 1:81,138,947...81,167,862
JBrowse link
G Blvrb biliverdin reductase B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,738,646...82,756,312
Ensembl chr 1:82,738,695...82,770,375
JBrowse link
G Borcs6 BLOC-1 related complex subunit 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
JBrowse link
G C1h19orf47 similar to human chromosome 19 open reading frame 47 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,844,309...82,871,187
Ensembl chr 1:82,844,286...82,868,320
JBrowse link
G Ccdc97 coiled-coil domain containing 97 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:81,219,225...81,227,017
Ensembl chr 1:81,219,230...81,226,986
JBrowse link
G Cd79a CD79a molecule ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,493,581...80,497,936
Ensembl chr 1:80,493,581...80,497,935
JBrowse link
G Ceacam15 CEA cell adhesion molecule 15 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:77,368,376...77,373,343
Ensembl chr 1:77,368,966...77,372,663
JBrowse link
G Ceacam4 CEA cell adhesion molecule 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,376,667...80,382,943
Ensembl chr 1:80,376,648...80,382,915
JBrowse link
G Ceacam6 CEA cell adhesion molecule 6 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,416,531...80,434,668
Ensembl chr 1:80,416,531...80,434,668
JBrowse link
G Chd3 chromodomain helicase DNA binding protein 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
JBrowse link
G Cic capicua transcriptional repressor ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
JBrowse link
G Cnfn cornifelin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,949,699...80,953,747
Ensembl chr 1:80,951,600...80,953,747
JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180
JBrowse link
G Ctc1 CST telomere replication complex component 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
JBrowse link
G Cyb5d1 cytochrome b5 domain containing 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911
JBrowse link
G Cyp2a1 cytochrome P450, family 2, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,231,611...82,244,887
Ensembl chr 1:82,231,611...82,244,887
JBrowse link
G Cyp2a3 cytochrome P450, family 2, subfamily a, polypeptide 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,171,914...82,179,980
Ensembl chr 1:82,169,949...82,179,979
JBrowse link
G Cyp2b3 cytochrome P450, family 2, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
JBrowse link
G Cyp2f4 cytochrome P450, family 2, subfamily f, polypeptide 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,416,107...82,429,897
Ensembl chr 1:82,416,130...82,429,896
JBrowse link
G Cyp2s1 cytochrome P450, family 2, subfamily s, polypeptide 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:81,309,948...81,325,303
Ensembl chr 1:81,310,451...81,325,303
JBrowse link
G Dedd2 death effector domain containing 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,789,084...80,807,789
Ensembl chr 1:80,792,000...80,807,714
JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 More... NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
JBrowse link
G Dll3 delta like canonical Notch ligand 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
JBrowse link
G Dmac2 distal membrane arm assembly component 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:81,128,760...81,134,810
Ensembl chr 1:81,128,857...81,134,812
JBrowse link
G Dmrtc2 DMRT-like family C2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,466,259...80,473,883
Ensembl chr 1:80,466,132...80,473,531
JBrowse link
G Dnah2 dynein, axonemal, heavy chain 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
JBrowse link
G Dyrk1b dual specificity tyrosine phosphorylation regulated kinase 1B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:83,479,168...83,497,011
Ensembl chr 1:83,479,147...83,487,169
JBrowse link
G Efnb3 ephrin B3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471
JBrowse link
G Egln2 egl-9 family hypoxia-inducible factor 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,451,554...82,459,809
Ensembl chr 1:82,451,555...82,459,751
JBrowse link
G Eid2 EP300 interacting inhibitor of differentiation 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:83,538,274...83,539,599 JBrowse link
G Eid2b EP300 interacting inhibitor of differentiation 2B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:83,545,530...83,547,338
Ensembl chr 1:83,545,563...83,546,734
JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
JBrowse link
G Erich4 glutamate-rich 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:81,123,556...81,125,296
Ensembl chr 1:81,123,556...81,125,296
JBrowse link
G Exosc5 exosome component 5 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:81,168,128...81,177,266
Ensembl chr 1:81,166,023...81,177,265
JBrowse link
G Fbl fibrillarin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:83,469,832...83,478,932
Ensembl chr 1:83,469,832...83,478,932
JBrowse link
G Fcgbp Fc gamma binding protein ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:83,374,979...83,413,082
Ensembl chr 1:83,372,127...83,413,083
JBrowse link
G Flvcr1 FLVCR choline and 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 chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661
JBrowse link
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:871527 PMID:3164080 PMID:8628290 PMID:9536098 PMID:11566888 More... NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link
G Gh1 growth hormone 1 treatment ISO RGD PMID:25492299 RGD:11352737 NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
JBrowse link
G Glod5 glyoxalase domain containing 5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:14,473,994...14,488,797
Ensembl chr  X:14,473,994...14,488,683
JBrowse link
G Grik5 glutamate ionotropic receptor kainate type subunit 5 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,605,878...80,667,896
Ensembl chr 1:80,605,892...80,667,125
JBrowse link
G Gsk3a glycogen synthase kinase 3 alpha ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,815,843...80,825,732
Ensembl chr 1:80,815,850...80,825,802
JBrowse link
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:35213692 NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
JBrowse link
G Hipk4 homeodomain interacting protein kinase 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,810,708...82,821,080
Ensembl chr 1:82,810,708...82,821,077
JBrowse link
G Hnrnpul1 heterogeneous nuclear ribonucleoprotein U-like 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:81,228,404...81,264,121
Ensembl chr 1:81,228,404...81,262,592
JBrowse link
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 More... NCBI chr11:67,730,117...67,771,170
Ensembl chr11:67,730,247...67,771,168
JBrowse link
G Itpkc inositol-trisphosphate 3-kinase C ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,500,957...82,522,533
Ensembl chr 1:82,500,957...82,522,779
JBrowse link
G Kcnab3 potassium voltage-gated channel subfamily A regulatory beta subunit 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174
JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
JBrowse link
G Klf1 KLF transcription factor 1 ISO mRNA:decreased expression:bone marrow, blood RGD PMID:22965552 RGD:10769343 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
JBrowse link
G Lgals5 galectin 5 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr10:63,853,949...63,857,198
Ensembl chr10:63,853,935...63,857,153
JBrowse link
G Lipe lipase E, hormone sensitive type ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,965,612...80,984,313
Ensembl chr 1:80,965,627...80,984,310
JBrowse link
G Ltbp4 latent transforming growth factor beta binding protein 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
JBrowse link
G Lypd4 Ly6/Plaur domain containing 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,460,487...80,466,105
Ensembl chr 1:80,460,487...80,466,011
JBrowse link
G Map3k10 mitogen activated protein kinase kinase kinase 10 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,955,784...82,974,084
Ensembl chr 1:82,955,207...82,974,084
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,902,236...80,951,614
Ensembl chr 1:80,902,574...80,951,613
JBrowse link
G Mia MIA SH3 domain containing ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,473,677...82,476,378
Ensembl chr 1:82,473,678...82,475,370
JBrowse link
G Naa38 N(alpha)-acetyltransferase 38, NatC auxiliary subunit ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
JBrowse link
G Numbl NUMB-like, endocytic adaptor protein ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,549,814...82,573,788
Ensembl chr 1:82,550,054...82,573,776
JBrowse link
G Odf4 outer dense fiber of sperm tails 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr10:53,628,592...53,634,525
Ensembl chr10:53,628,759...53,634,359
JBrowse link
G Pafah1b3 platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,881,263...80,883,789
Ensembl chr 1:80,881,309...80,883,893
JBrowse link
G Per1 period circadian regulator 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
JBrowse link
G Pfas phosphoribosylformylglycinamidine synthase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
JBrowse link
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072
JBrowse link
G Plekhg2 pleckstrin homology and RhoGEF domain containing G2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:83,651,902...83,665,063
Ensembl chr 1:83,647,748...83,665,063
JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
JBrowse link
G Pou2f2 POU class 2 homeobox 2 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
JBrowse link
G Prr19 proline rich 19 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,884,529...80,890,712
Ensembl chr 1:80,887,151...80,890,168
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,785,082...82,807,154
Ensembl chr 1:82,786,815...82,807,407
JBrowse link
G Psmc4 proteasome 26S subunit, ATPase 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:83,349,127...83,357,497
Ensembl chr 1:83,348,592...83,357,494
JBrowse link
G Rab4b RAB4B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,461,396...82,472,784
Ensembl chr 1:82,461,396...82,472,763
JBrowse link
G Rabac1 Rab acceptor 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,564,029...80,567,164
Ensembl chr 1:80,564,033...80,567,163
JBrowse link
G Rangrf RAN guanine nucleotide release factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr10:53,677,467...53,678,880
Ensembl chr10:53,677,467...53,678,840
JBrowse link
G Rnf227 ring finger protein 227 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,061,054...54,063,015
Ensembl chr10:54,059,947...54,063,010
JBrowse link
G Rpl11 ribosomal protein L11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More... NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
JBrowse link
G Rpl19 ribosomal protein L19 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:83,022,503...83,026,030
Ensembl chr10:83,019,257...83,052,112
JBrowse link
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:9536098 PMID:17576681 PMID:20522432 PMID:21056402 PMID:22267198 More... NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966
JBrowse link
G Rpl35a ribosomal protein L35A ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 More... NCBI chr11:67,726,031...67,729,953
Ensembl chr11:67,726,032...67,729,942
Ensembl chr 5:67,726,032...67,729,942
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19191325 More... NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
JBrowse link
G Rps10 ribosomal protein S10 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:20159986 More... NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044
Ensembl chr 6:5,694,313...5,699,044
JBrowse link
G Rps10l6 ribosomal protein S10 like 6 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:23718193 More... NCBI chr15:18,308,287...18,309,139 JBrowse link
G Rps16 ribosomal protein S16 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:83,643,066...83,646,056
Ensembl chr 1:83,643,130...83,646,206
JBrowse link
G Rps17 ribosomal protein S17 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia
CTD
ClinVar
PMID:17647292 PMID:19953637 PMID:25741868 NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535
Ensembl chr 8:135,295,919...135,298,535
JBrowse link
G Rps19 ribosomal protein S19 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary
CTD
ClinVar
PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 More... NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
JBrowse link
G Rps20 ribosomal protein S20 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:32790018 NCBI chr 5:16,819,095...16,820,476
Ensembl chr 5:16,819,304...16,820,475
Ensembl chr 9:16,819,304...16,820,475
Ensembl chr 3:16,819,304...16,820,475
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary ClinVar PMID:9536098 PMID:17186470 PMID:17576681 PMID:19689926 PMID:20960466 More... NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
JBrowse link
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19816270 PMID:20116044 PMID:22381658 PMID:23718193 PMID:24675553 More... NCBI chr 7:1,057,332...1,058,882 JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:25741868 PMID:26136524 PMID:28492532 NCBI chr 6:45,266,200...45,271,064
Ensembl chr 6:45,223,980...45,271,145
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 8:119,851,225...119,855,103
Ensembl chr 8:119,851,225...119,855,247
JBrowse link
G Scarna21 small Cajal body-specific RNA 21 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,070,959...54,071,098
Ensembl chr10:54,070,959...54,071,098
JBrowse link
G Selenov selenoprotein V ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:83,551,473...83,558,756
Ensembl chr 1:83,551,473...83,558,756
JBrowse link
G Sertad1 SERTA domain containing 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,775,692...82,778,961
Ensembl chr 1:82,775,252...82,779,091
JBrowse link
G Sertad3 SERTA domain containing 3 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,763,535...82,767,271
Ensembl chr 1:82,763,149...82,769,001
JBrowse link
G Shkbp1 Sh3kbp1 binding protein 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,636,797...82,650,330
Ensembl chr 1:82,636,797...82,650,375
JBrowse link
G Slc25a35 solute carrier family 25, member 35 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 More... NCBI chr10:53,672,851...53,677,501
Ensembl chr10:53,673,340...53,698,160
JBrowse link
G Snora66 small nucleolar RNA, H/ACA box 66 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar NCBI chr14:1,844,373...1,844,504
Ensembl chr14:1,844,373...1,844,504
JBrowse link
G Snord118 small nucleolar RNA, C/D box 118 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
JBrowse link
G Snord21 small nucleolar RNA, C/D box 21 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 NCBI chr14:1,847,134...1,847,227
Ensembl chr14:1,847,134...1,847,227
JBrowse link
G Snrpa small nuclear ribonucleoprotein polypeptide A ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,481,770...82,490,540
Ensembl chr 1:82,481,770...82,490,538
JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,650,750...82,738,345
Ensembl chr 1:82,650,751...82,737,228
JBrowse link
G Supt5h SPT5 homolog, DSIF elongation factor subunit ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:83,586,713...83,616,971
Ensembl chr 1:83,586,718...83,616,892
JBrowse link
G Suv39h1 SUV39H1 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:14,421,028...14,433,993
Ensembl chr  X:14,421,109...14,433,982
JBrowse link
G Suv39h1-ps1 SUV39H1 histone lysine methyltransferase, pseudogene 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:141,792,589...141,795,257 JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Timm50 translocase of inner mitochondrial membrane 50 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:83,574,872...83,582,748
Ensembl chr 1:83,556,757...83,582,793
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
JBrowse link
G Tmem145 transmembrane protein 145 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,891,888...80,901,615
Ensembl chr 1:80,891,927...80,901,611
JBrowse link
G Tmem88 transmembrane protein 88 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447
JBrowse link
G Tmem91 transmembrane protein 91 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:81,179,483...81,187,005
Ensembl chr 1:81,179,156...81,185,164
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link
G Trappc1 trafficking protein particle complex subunit 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331
JBrowse link
G Ttc9b tetratricopeptide repeat domain 9B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:82,953,434...82,955,659
Ensembl chr 1:82,953,434...82,955,616
JBrowse link
G Vamp2 vesicle-associated membrane protein 2 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809
JBrowse link
G Was WASP actin nucleation promoting factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 NCBI chr  X:14,405,105...14,413,850
Ensembl chr  X:14,405,124...14,413,849
JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia ClinVar PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 More... NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
JBrowse link
G Zfp11 zinc finger protein 11 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr12:27,028,067...27,040,846
Ensembl chr12:27,028,115...27,041,365
JBrowse link
G Zfp526 zinc finger protein 526 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,807,791...80,817,852
Ensembl chr 1:80,806,972...80,818,180
JBrowse link
G Zfp574 zinc finger protein 574 ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:80,667,984...80,678,257
Ensembl chr 1:80,664,259...80,679,427
JBrowse link
G Znf780b zinc finger protein 780B ISO ClinVar Annotator: match by term: Aase syndrome ClinVar PMID:28492532 NCBI chr 1:83,009,174...83,030,463
Ensembl chr 1:83,009,189...83,082,107
JBrowse link
Diamond-Blackfan anemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
JBrowse link
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:25741868 PMID:35213692 NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
JBrowse link
G Rps19 ribosomal protein S19 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 OMIM
ClinVar
PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 More... NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
JBrowse link
Diamond-Blackfan anemia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf4 IKAROS family zinc finger 4 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:23812780 More... NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341
JBrowse link
G Rps26 ribosomal protein S26 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 More... NCBI chr 7:1,057,332...1,058,882 JBrowse link
G Suox sulfite oxidase ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 ClinVar PMID:20116044 PMID:22045982 PMID:22689679 PMID:23718193 PMID:28492532 NCBI chr 7:1,103,149...1,107,156
Ensembl chr 7:1,103,151...1,107,038
JBrowse link
Diamond-Blackfan anemia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl26 ribosomal protein L26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 11 OMIM
ClinVar
PMID:22431104 PMID:25741868 PMID:28492532 NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966
JBrowse link
Diamond-Blackfan anemia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nkiras1 NFKB inhibitor interacting Ras-like 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition ClinVar PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205 NCBI chr15:7,493,531...7,503,758
Ensembl chr15:7,493,531...7,503,854
JBrowse link
G Rpl15 ribosomal protein L15 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 | ClinVar Annotator: match by term: RPL15-related condition OMIM
ClinVar
PMID:23812780 PMID:25741868 PMID:28492532 PMID:29599205 NCBI chr15:7,503,883...7,507,166
Ensembl chr15:7,503,883...7,507,165
JBrowse link
Diamond-Blackfan anemia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 OMIM
ClinVar
PMID:24829207 PMID:25741868 PMID:28492532 NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636
JBrowse link
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tsr2 TSR2, ribosome maturation factor ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis OMIM
ClinVar
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 NCBI chr  X:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620
JBrowse link
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps26 ribosomal protein S26 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis ClinVar PMID:17483715 PMID:19816270 PMID:20116044 PMID:23718193 PMID:24675553 More... NCBI chr 7:1,057,332...1,058,882 JBrowse link
G Rps28 ribosomal protein S28 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis OMIM
ClinVar
PMID:24942156 PMID:25741868 NCBI chr 7:14,607,801...14,609,170
Ensembl chr 7:14,607,801...14,609,170
Ensembl chr16:14,607,801...14,609,170
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:20,064,102...20,072,673
Ensembl chr  X:20,064,103...20,072,620
JBrowse link
Diamond-Blackfan anemia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpl27 ribosomal protein L27 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 OMIM
ClinVar
PMID:25424902 PMID:25741868 PMID:28492532 NCBI chr10:86,375,511...86,379,210
Ensembl chr10:86,375,454...86,379,193
JBrowse link
Diamond-Blackfan anemia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rps27 ribosomal protein S27 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 OMIM
ClinVar
PMID:25424902 PMID:25741868 NCBI chr 2:175,665,858...175,666,963
Ensembl chr 2:175,665,853...175,666,964
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 1:96,188,811...96,191,452
Ensembl chr 1:96,188,112...96,191,452
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 3:22,753,255...22,756,217
Ensembl chr 3:22,753,253...22,756,243
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 1:172,420,151...172,427,021
Ensembl chr 1:172,419,761...172,426,995
JBrowse link
Diamond-Blackfan Anemia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Heatr3 HEAT repeat containing 3 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 21 OMIM
ClinVar
PMID:25741868 PMID:35213692 NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
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 chr16:49,178...88,178
Ensembl chr16:49,521...88,172
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 3
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:17186470 PMID:17576681 PMID:20960466 PMID:23812780 More... NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 4
OMIM
CTD
ClinVar
PMID:17647292 PMID:19953637 PMID:23718193 PMID:23812780 PMID:25741868 NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535
Ensembl chr 8:135,295,919...135,298,535
JBrowse link
Diamond-Blackfan anemia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqcg IQ motif containing G ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More... NCBI chr11:67,730,117...67,771,170
Ensembl chr11:67,730,247...67,771,168
JBrowse link
G Rpl35a ribosomal protein L35A ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 | ClinVar Annotator: match by term: RPL35A-related condition
CTD Direct Evidence: marker/mechanism
DNA:deletions, duplication:multiple (human)
DNA:deletions, snps:multiple (human)
OMIM
ClinVar
CTD
RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18535205 PMID:22262766 More... RGD:11535072, RGD:11535069 NCBI chr11:67,726,031...67,729,953
Ensembl chr11:67,726,032...67,729,942
Ensembl chr 5:67,726,032...67,729,942
JBrowse link
Diamond-Blackfan anemia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 ClinVar PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
JBrowse link
G Rpl5 ribosomal protein L5 ISO
ISS
OMIM:612561
ClinVar Annotator: match by term: Aase-Smith syndrome II | 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
MouseDO
ClinVar
RGD
PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 More... RGD:11535969, RGD:11535967, RGD:11535132, RGD:11535130, RGD:11535128, RGD:11535122 NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
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
ISS
ClinVar Annotator: match by term: Diamond-Blackfan anemia 7
OMIM:612562
CTD Direct Evidence: marker/mechanism
DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human)
DNA:mutations:multiple (human)
DNA:deletions:exons:g.58_59delCT, g.460delA (human)
DNA:deletions, snp:exons, introns:multiple (human)
DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human)
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:19773262 More... RGD:11535971, RGD:11535969, RGD:11535967, RGD:11535130, RGD:11535132, RGD:11535122 NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
JBrowse link
Diamond-Blackfan anemia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adi1 acireductone dioxygenase 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 6:45,306,885...45,313,847
Ensembl chr 6:45,306,841...45,313,842
JBrowse link
G Colec11 collectin sub-family member 11 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 6:45,223,974...45,256,640
Ensembl chr 6:45,223,980...45,271,145
JBrowse link
G Rnaseh1 ribonuclease H1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 6:45,282,849...45,292,258
Ensembl chr 6:45,282,854...45,292,236
JBrowse link
G Rps7 ribosomal protein S7 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 | ClinVar Annotator: match by term: RPS7-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19061985 PMID:23718193 More... NCBI chr 6:45,266,200...45,271,064
Ensembl chr 6:45,223,980...45,271,145
JBrowse link
G Trappc12 trafficking protein particle complex subunit 12 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 ClinVar PMID:28492532 NCBI chr 6:45,321,496...45,386,967
Ensembl chr 6:45,321,497...45,386,952
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diamond-Blackfan anemia 9
OMIM
CTD
ClinVar
PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044
Ensembl chr 6:5,694,313...5,699,044
JBrowse link
G Rps10l6 ribosomal protein S10 like 6 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 ClinVar PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 NCBI chr15:18,308,287...18,309,139 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 chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
JBrowse link
G Ikzf1 IKAROS family zinc finger 1 ISO ClinVar Annotator: match by term: Diamond-Blackfan anemia-like ClinVar PMID:28492532 PMID:29681510 PMID:34162668 NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
JBrowse link
erythroleukemia 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 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
JBrowse link
G Dhodh dihydroorotate dehydrogenase (quinone) ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
JBrowse link
G Umps uridine monophosphate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:38827 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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: Thrombocythemia 1 ClinVar NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015
JBrowse link
G Bdkrb1 bradykinin receptor B1 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
JBrowse link
G Bdkrb2 bradykinin receptor B2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
JBrowse link
G C6h14orf132 similar to human chromosome 14 open reading frame 132 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,365,466...124,398,449 JBrowse link
G Calr calreticulin severity ISO ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutations:multiple (human)
OMIM
ClinVar
RGD
PMID:24325356 PMID:24325359 PMID:25741868 PMID:24496303 PMID:25860380 RGD:11352751, RGD:11352747 NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
JBrowse link
G Cd36 CD36 molecule ISO protein:increased expression:platelet, cell surface RGD PMID:8555064 RGD:11041099 NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:22196954 RGD:11344979 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306
JBrowse link
G Cux2 cut-like homeobox 2 ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar PMID:20404132 PMID:25741868 NCBI chr12:34,507,723...34,707,581
Ensembl chr12:34,520,959...34,705,806
JBrowse link
G Elane elastase, neutrophil expressed ISO protein:increased expression:plasma: RGD PMID:18768782 RGD:10450556 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
JBrowse link
G Gskip GSK3B interacting protein ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100
JBrowse link
G Jak2 Janus kinase 2 severity ISO
ISS
DNA:mutation: :p.V617F (human)
OMIM:187950 | OMIM:601977 | OMIM:614521
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
RGD
PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 More... RGD:10449178 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Mpl MPL proto-oncogene, thrombopoietin receptor ISO DNA:missense mutation:cds:pS505N (human)
ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1
mRNA, protein:decreased expression:blood, platelet (human)
ClinVar
RGD
PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 More... RGD:10449014, RGD:10449016 NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
JBrowse link
G Myb MYB proto-oncogene, transcription factor ISS OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 MouseDO NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
JBrowse link
G Pdgfa platelet derived growth factor subunit A ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1 OMIM
ClinVar
PMID:15705783 PMID:20404132 PMID:23812944 PMID:25741868 PMID:27651169 More... NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
JBrowse link
G Tcl1a Tcl1 family Akt coactivator A ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15682418 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
G Thpo thrombopoietin ISO ClinVar Annotator: match by term: Thrombocythemia 1
DNA:mutation:splice junction:
OMIM
ClinVar
RGD
PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:16199547 More... RGD:1580083 Ensembl chr11:80,182,820...80,188,167 JBrowse link
G Tunar TCL1 upstream neural differentiation-associated RNA ISO ClinVar Annotator: match by term: Thrombocythemia 1 ClinVar NCBI chr 6:124,245,949...124,293,440 JBrowse link
G Vcam1 vascular cell adhesion molecule 1 ISO protein:increased expression:serum: RGD PMID:24434346 RGD:11354980 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
JBrowse link
G Vwf von Willebrand factor ISO RGD PMID:25876231 RGD:11073823 NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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 chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign | ClinVar Annotator: match by term: Familial erythrocytosis, 1
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
CTD
ClinVar
RGD
PMID:1653276 PMID:1954391 PMID:4052634 PMID:7795221 PMID:8093406 More... RGD:11041638, RGD:11041631, RGD:11041608, RGD:11041605, RGD:11041601 NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
JBrowse link
G Insl6 insulin-like 6 ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign ClinVar PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
JBrowse link
G Jak2 Janus kinase 2 ISO ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 More... NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Sh2b3 SH2B adaptor protein 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign
OMIM
CTD
ClinVar
PMID:15705783 PMID:20843259 PMID:25741868 PMID:27651169 PMID:28484264 More... NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Congenital Erythrocytosis ClinVar PMID:15642664 PMID:25741868 PMID:28492532 PMID:29891534 PMID:37246471 NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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: Chuvash polycythemia ClinVar PMID:8634692 PMID:10567493 PMID:10830910 PMID:17537157 PMID:19280651 More... NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
JBrowse link
G Fancd2 FA complementation group D2 ISO ClinVar Annotator: match by term: Chuvash polycythemia ClinVar PMID:8634692 PMID:10567493 PMID:10830910 PMID:17537157 PMID:19280651 More... NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
JBrowse link
G Fancd2os FANCD2 opposite strand ISO ClinVar Annotator: match by term: Chuvash polycythemia ClinVar PMID:8634692 PMID:10567493 PMID:10830910 PMID:17537157 PMID:19280651 More... NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
JBrowse link
G Jak2 Janus kinase 2 ISO RGD PMID:21685897 RGD:6483049 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO
ISS
ClinVar Annotator: match by term: Chuvash polycythemia | ClinVar Annotator: match by term: Erythrocytosis, familial, 2 | ClinVar Annotator: match by term: POLYCYTHEMIA, VHL-DEPENDENT
OMIM:263400
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16407130 PMID:17576681 PMID:17579185 PMID:17933562 More... NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18184961 PMID:18378852 PMID:18508787 PMID:18650473 PMID:19208626 More... NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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 chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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, familial, 6 | ClinVar Annotator: match by term: POLYCYTHEMIA, BETA-GLOBIN TYPE OMIM
ClinVar
PMID:124 PMID:14973 PMID:20942 PMID:27132 PMID:29054