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
Accession: DOID:4961
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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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
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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
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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
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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 PMID:28547672 PMID:30963592 PMID:31484648 PMID:32054657 PMID:32098966 PMID:33585199 More...
NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
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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
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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
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Foxp3
forkhead box P3
ISO
ClinVar Annotator: match by term: Bone marrow hypocellularity
ClinVar
PMID:11137992 PMID:11295725 PMID:20650610 PMID:23534934 PMID:25546394 PMID:25741868 PMID:28492532 PMID:29312905 More...
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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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
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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
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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
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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
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Ttr
transthyretin
ISO
ClinVar Annotator: match by term: Bone marrow hypocellularity
ClinVar
PMID:1351039 PMID:1358785 PMID:1997217 PMID:2002274 PMID:2063870 PMID:2237288 PMID:2320592 PMID:2349941 PMID:2590199 PMID:2646319 PMID:3030336 PMID:3229002 PMID:3627183 PMID:3934968 PMID:7868124 PMID:8698351 PMID:9017939 PMID:10211412 PMID:10762172 PMID:10842715 PMID:11385707 PMID:11752419 PMID:11752443 PMID:12050338 PMID:12217248 PMID:12874413 PMID:12874414 PMID:14569203 PMID:14640030 PMID:15123043 PMID:15820680 PMID:16011990 PMID:16432141 PMID:16439621 PMID:16631014 PMID:16631015 PMID:17251346 PMID:17503405 PMID:17551924 PMID:18042262 PMID:18276611 PMID:18318779 PMID:18830126 PMID:19781421 PMID:20301373 PMID:20435197 PMID:20981092 PMID:21600538 PMID:22083004 PMID:22184092 PMID:22745357 PMID:22877808 PMID:22995991 PMID:23193944 PMID:23713495 PMID:23716704 PMID:23797140 PMID:24033266 PMID:24073013 PMID:24101130 PMID:24131106 PMID:24184229 PMID:24474780 PMID:24517438 PMID:24633258 PMID:24818650 PMID:25395306 PMID:25551524 PMID:25741868 PMID:25819286 PMID:25846356 PMID:25997029 PMID:26002815 PMID:26017327 PMID:26123279 PMID:26428663 PMID:26467025 PMID:26537620 PMID:27188913 PMID:27386769 PMID:27618855 PMID:27652282 PMID:27720586 PMID:27758856 PMID:27838833 PMID:28102864 PMID:28475415 PMID:28492532 PMID:28635949 PMID:29052438 PMID:29493581 PMID:29520877 PMID:29764897 PMID:30093168 PMID:30813263 PMID:30938420 PMID:31135624 PMID:31359320 PMID:31371117 PMID:31554435 PMID:31659433 PMID:31740141 PMID:31821430 PMID:31980526 PMID:32150461 PMID:32461654 PMID:32674397 PMID:33467513 PMID:34079032 PMID:34729535 PMID:35115086 PMID:35377943 PMID:35903975 More...
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:24327140 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31130284 PMID:33057194 PMID:35982159 More...
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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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
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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 PMID:8903321 PMID:10627091 PMID:10780266 PMID:15654505 PMID:15902904 PMID:16046871 PMID:16440063 PMID:16679777 PMID:17885622 PMID:18056758 PMID:20010786 PMID:22992668 PMID:33355142 More...
NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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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
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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
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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
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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
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 PMID:16553037 More...
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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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
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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
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Dkc1
dyskerin pseudouridine synthase 1
ISO
DNA:missense mutations:exon:p.V105G, p.S121A (human)
RGD
PMID:26360549
RGD:11251733
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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
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Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Aplastic anemia
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28881617 PMID:29351780 PMID:33471991 More...
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
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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
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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
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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
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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
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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
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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
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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
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Ifng
interferon gamma
susceptibility treatment
ISO ISS
ClinVar Annotator: match by term: Aplastic anemia OMIM:609135 CTD Direct Evidence: marker/mechanism DNA:polymorphism: : 874A>T(human) DNA:repeats,haplotype:intron: -2,353 A>T(human) DNA:repeats:intron:
OMIM ClinVar MouseDO CTD RGD
PMID:25741868 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
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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
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KitWs
KIT proto-oncogene receptor tyrosine kinase; mutant 1
severity
IMP
RGD
PMID:7694680
RGD:12910751
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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 PMID:10398434 PMID:10799436 PMID:10848790 PMID:10852373 PMID:11093281 PMID:11279524 PMID:11288710 PMID:11325820 PMID:11953735 PMID:12123493 PMID:12353271 PMID:12433983 PMID:12447395 PMID:12505263 PMID:12621246 PMID:12708449 PMID:12833396 PMID:12845677 PMID:14559852 PMID:14973119 PMID:15048089 PMID:15185344 PMID:15279809 PMID:15338273 PMID:15451479 PMID:15474156 PMID:15593232 PMID:15964794 PMID:16033915 PMID:16199547 PMID:16415040 PMID:16474176 PMID:16544999 PMID:16770759 PMID:16810201 PMID:17103455 PMID:17496786 PMID:17576681 PMID:17695489 PMID:17894553 PMID:17899368 PMID:18049891 PMID:18280732 PMID:18281469 PMID:18575580 PMID:18593981 PMID:18606567 PMID:18940477 PMID:19105185 PMID:19393249 PMID:19409520 PMID:19452044 PMID:19523210 PMID:19629396 PMID:19635536 PMID:19804756 PMID:19813148 PMID:19908051 PMID:20444919 PMID:20805886 PMID:21035407 PMID:21212067 PMID:21698754 PMID:22006311 PMID:22131123 PMID:22293976 PMID:22373003 PMID:22491912 PMID:22864661 PMID:22941933 PMID:23149842 PMID:23265383 PMID:23317186 PMID:23555315 PMID:24033266 PMID:24093751 PMID:24113799 PMID:24396275 PMID:24549055 PMID:24728327 PMID:24763289 PMID:24830725 PMID:24894818 PMID:25186627 PMID:25485873 PMID:25503501 PMID:25619955 PMID:25677497 PMID:25712764 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26270727 PMID:26315354 PMID:26467025 PMID:26534844 PMID:26564480 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26722329 PMID:26786923 PMID:26787654 PMID:26822949 PMID:26845104 PMID:26898890 PMID:26976419 PMID:27109316 PMID:27149842 PMID:27150568 PMID:27153395 PMID:27433846 PMID:27443514 PMID:27498913 PMID:27616075 PMID:27621404 PMID:27978560 PMID:28076423 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28261280 PMID:28374160 PMID:28376765 PMID:28492532 PMID:28528518 PMID:28591191 PMID:28726808 PMID:28727877 PMID:28801450 PMID:28873162 PMID:28888541 PMID:29093764 PMID:29335925 PMID:29368341 PMID:29371908 PMID:29419426 PMID:29470806 PMID:29484706 PMID:29506128 PMID:29522266 PMID:29596542 PMID:29615459 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29678143 PMID:29785153 PMID:29915322 PMID:29922827 PMID:30130155 PMID:30256826 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30426508 PMID:30441849 PMID:30541756 PMID:30590007 PMID:30612635 PMID:30613976 PMID:30651582 PMID:30980208 PMID:30982232 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31214711 PMID:31278556 PMID:31422574 PMID:31666926 PMID:31742824 PMID:31780696 PMID:31874108 PMID:31911633 PMID:32068069 PMID:32191290 PMID:32268276 PMID:32295079 PMID:32318955 PMID:32338768 PMID:32427313 PMID:32566746 PMID:32658311 PMID:32668560 PMID:32782288 PMID:32832836 PMID:32866190 PMID:32885271 PMID:32906206 PMID:32936981 PMID:32980694 PMID:33050356 PMID:33095795 PMID:33309985 PMID:33471974 PMID:33471991 PMID:33558524 PMID:33630411 PMID:33646313 PMID:33652732 PMID:33800431 PMID:33840814 PMID:34072463 PMID:34072659 PMID:34204722 PMID:34251444 PMID:34284872 PMID:34326862 PMID:34544220 PMID:34964003 PMID:34994648 PMID:35186721 PMID:35245693 PMID:35264596 PMID:35309086 PMID:35467778 PMID:35654374 PMID:35739269 PMID:36346689 PMID:36451132 PMID:36988593 More...
NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
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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
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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
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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 PMID:11565555 PMID:11756153 PMID:11841437 PMID:12060139 PMID:12229880 PMID:12599189 PMID:12716377 PMID:12725560 PMID:14576041 PMID:14739222 PMID:14757862 PMID:15205266 PMID:15365097 PMID:15632205 PMID:15728124 PMID:15755897 PMID:15840696 PMID:15924140 PMID:16278825 PMID:16374518 PMID:16443553 PMID:16860143 PMID:17164654 PMID:17266056 PMID:17311987 PMID:17356398 PMID:17477373 PMID:17525286 PMID:17576681 PMID:17601962 PMID:17606450 PMID:17627755 PMID:17674359 PMID:17873118 PMID:18074390 PMID:18190960 PMID:18710388 PMID:18927437 PMID:19487666 PMID:19595804 PMID:19639728 PMID:20015888 PMID:20055781 PMID:20092789 PMID:20197201 PMID:21152410 PMID:21234777 PMID:21674762 PMID:21881043 PMID:21931115 PMID:21959744 PMID:22186995 PMID:22249210 PMID:22437823 PMID:22970278 PMID:23073044 PMID:23073290 PMID:23160464 PMID:23180437 PMID:23255033 PMID:23264592 PMID:23443029 PMID:23592409 PMID:24309606 PMID:24390453 PMID:24578718 PMID:24744671 PMID:24916509 PMID:25047945 PMID:25215106 PMID:25233452 PMID:25297583 PMID:25326637 PMID:25354579 PMID:25577959 PMID:25741868 PMID:26184781 PMID:26199792 PMID:26221353 PMID:26342526 PMID:26450956 PMID:26684649 PMID:26739415 PMID:26903364 PMID:27033761 PMID:27209435 PMID:27271812 PMID:27391055 PMID:27577878 PMID:27622035 PMID:27896523 PMID:28492532 PMID:28936583 PMID:29113160 PMID:29239076 PMID:29357941 PMID:29665027 PMID:29777376 PMID:30697212 PMID:30849948 PMID:30899265 PMID:31055813 PMID:31388699 PMID:31395954 PMID:31789783 PMID:32375849 PMID:32542393 PMID:32638196 PMID:32696691 PMID:32914282 PMID:33225392 PMID:33365035 PMID:33658321 PMID:33746956 PMID:33822359 PMID:34170459 PMID:34677667 PMID:37467895 More...
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
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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
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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
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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
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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
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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 PMID:15942154 PMID:17478638 PMID:17916435 PMID:19148133 PMID:20301722 PMID:21695142 PMID:22491737 PMID:22934832 PMID:22935661 PMID:23351992 PMID:24033266 PMID:24388329 PMID:24629175 PMID:24898207 PMID:25525159 PMID:25729736 PMID:25741868 PMID:26479198 PMID:26822237 PMID:27290639 PMID:27418648 PMID:32150944 PMID:32581362 PMID:34758064 PMID:36835434 More...
NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
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Terc
telomerase RNA component
ISO
ClinVar Annotator: match by term: Aplastic anemia
ClinVar
PMID:12090986 PMID:12676774 PMID:12972604 PMID:15082312 PMID:15098033 PMID:15319288 PMID:15550482 PMID:17640862 PMID:19095616 PMID:19835419 PMID:20022961 PMID:21844345 PMID:21931702 PMID:22341970 PMID:24033266 PMID:25612863 PMID:25741868 PMID:28492532 More...
NCBI chr 2:112,815,654...112,816,041
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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:16627250 PMID:17460043 PMID:18042801 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20301779 PMID:20966039 PMID:21258621 PMID:21436073 PMID:21520173 PMID:21602826 PMID:21635204 PMID:21931702 PMID:22476886 PMID:23538340 PMID:23716176 PMID:23901009 PMID:24033266 PMID:24833766 PMID:24983628 PMID:25108601 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26158642 PMID:26360549 PMID:26365799 PMID:26580448 PMID:27354474 PMID:27540018 PMID:27848944 PMID:28104920 PMID:28154186 PMID:28492532 PMID:28677271 PMID:28813500 PMID:29036293 PMID:29146883 PMID:29483670 PMID:29625052 PMID:30203795 PMID:30523342 PMID:30791107 PMID:35776903 PMID:23336163 More...
RGD:11038668
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Atypical chronic myeloid leukemia | 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
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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
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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
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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 PMID:25741868 PMID:25985931 PMID:26636621 PMID:28492532 PMID:28772256 PMID:29499877 PMID:29786897 PMID:30214775 PMID:30735661 PMID:31338833 PMID:31642437 PMID:32605921 PMID:32790119 PMID:33256393 PMID:34298585 More...
NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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Glrx5
glutaredoxin 5
ISO
ClinVar Annotator: match by term: Sideroblastic anemia 3
OMIM ClinVar
PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 PMID:30660387 More...
NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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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
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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
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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
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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
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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
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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
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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
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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
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:38348709
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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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
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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 PMID:29987015 PMID:37149759 More...
NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275
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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 PMID:29146883 PMID:29700810 More...
NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752
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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 PMID:25741868 PMID:26220525 PMID:28115216 PMID:28492532 More...
NCBI chr 5:109,761,345...109,826,652
Ensembl chr 5:109,776,286...109,819,967
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Bone marrow failure syndrome 5
ClinVar OMIM
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1975675 PMID:1999338 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8308926 PMID:8401536 PMID:8423216 PMID:8550239 PMID:8633021 PMID:8649776 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9569050 PMID:9607760 PMID:9662334 PMID:9667734 PMID:9891044 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11101847 PMID:11139324 PMID:11370630 PMID:11403041 PMID:11782540 PMID:11793474 PMID:12007217 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15037740 PMID:15355915 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16437140 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16818505 PMID:16861262 PMID:16964264 PMID:17015838 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:18307025 PMID:18391940 PMID:18511570 PMID:19101993 PMID:19127115 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19881536 PMID:20028212 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20586629 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21113594 PMID:21118481 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21619694 PMID:21672450 PMID:21761402 PMID:22006311 PMID:22186996 PMID:22233476 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22915647 PMID:22923379 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23624782 PMID:23630318 PMID:23792586 PMID:23887774 PMID:24033266 PMID:24065105 PMID:24122735 PMID:24381225 PMID:24487413 PMID:24573247 PMID:24641375 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24835218 PMID:25059482 PMID:25157968 PMID:25256166 PMID:25404506 PMID:25584008 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26786923 PMID:26911350 PMID:27146902 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28664506 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29070607 PMID:29300620 PMID:29489754 PMID:29979965 PMID:30146126 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30816478 PMID:31321604 PMID:31775759 PMID:31882575 PMID:31983162 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32817165 PMID:32888145 PMID:33087929 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33372952 PMID:33471991 PMID:33840814 PMID:34088725 PMID:34503094 PMID:34529667 PMID:34709361 PMID:35043155 PMID:35802772 PMID:35974385 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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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
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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
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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
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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 PMID:11861307 PMID:11964322 PMID:12130516 PMID:12399961 PMID:12576318 PMID:12623848 PMID:12663457 PMID:12783380 PMID:14559829 PMID:14745431 PMID:15194504 PMID:15256422 PMID:15381060 PMID:15510211 PMID:17008892 PMID:17114651 PMID:17189410 PMID:18223278 PMID:18354488 PMID:18615627 PMID:18757400 PMID:18828913 PMID:19164531 PMID:19264234 PMID:19466505 PMID:19557636 PMID:19652056 PMID:19768693 PMID:19811824 PMID:20010464 PMID:20367437 PMID:20512393 PMID:20537386 PMID:20557306 PMID:20607847 PMID:20697894 PMID:20702476 PMID:20963643 PMID:21221851 PMID:21489624 PMID:21505103 PMID:21509757 PMID:21562040 PMID:21605905 PMID:21762985 PMID:21872826 PMID:21888027 PMID:21895409 PMID:22210874 PMID:22306673 PMID:22772060 PMID:22870928 PMID:22912393 PMID:23355941 PMID:23540562 PMID:23575252 PMID:23676790 PMID:24109527 PMID:24236021 PMID:24456693 PMID:25152116 PMID:25157968 PMID:25686603 PMID:25741868 PMID:28492532 PMID:31775759 PMID:36063163 More...
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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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
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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
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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 PMID:24614839 PMID:24854193 PMID:25491280 PMID:25741868 PMID:25932451 PMID:26875968 PMID:27148573 PMID:27581359 PMID:28209919 PMID:28219221 PMID:28492532 PMID:28762112 PMID:30967555 PMID:31697825 More...
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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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
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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 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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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 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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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 PMID:31775759 More...
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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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 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:18316791 PMID:19018267 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20921462 PMID:20921465 PMID:20949621 PMID:21044336 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22235099 PMID:22407852 PMID:22683711 PMID:22897852 PMID:23096712 PMID:23406027 PMID:24033266 PMID:24138715 PMID:25157968 PMID:25741868 PMID:26242988 PMID:26372703 PMID:28492532 PMID:29298116 PMID:31891627 More...
NCBI chr 4:178,185,418...178,218,484
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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 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18948947 PMID:19075190 PMID:19657110 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21305640 PMID:21729679 PMID:21829508 PMID:22407852 PMID:23134356 PMID:23334668 PMID:23414587 PMID:23515407 PMID:23614898 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28594414 PMID:30417923 PMID:32888943 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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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 PMID:23400866 PMID:25082129 PMID:25741868 PMID:28492532 More...
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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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
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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
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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
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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
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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 PMID:11964322 PMID:12130516 PMID:12399961 PMID:12623848 PMID:12663457 PMID:14559829 PMID:14745431 PMID:15194504 PMID:15256422 PMID:15381060 PMID:15604220 PMID:18615627 PMID:18673174 PMID:19466505 PMID:19652056 PMID:20367437 PMID:20512393 PMID:20537386 PMID:20697894 PMID:20963643 PMID:21505103 PMID:21562040 PMID:21762985 PMID:21872826 PMID:21895409 PMID:21908430 PMID:22306673 PMID:22772060 PMID:22870928 PMID:23355941 PMID:23540562 PMID:23676790 PMID:24236021 PMID:24456693 PMID:24728327 PMID:25157968 PMID:25686603 PMID:25741868 PMID:28492532 PMID:33070465 PMID:33783941 PMID:36063163 PMID:3021820 PMID:25133686 PMID:21481795 PMID:12067277 PMID:23289634 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
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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
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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
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Agt
angiotensinogen
ISO
RGD
PMID:19761684
RGD:11039056
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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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
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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
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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
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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 PMID:12613514 PMID:25133686 PMID:12067277 PMID:7683349 PMID:2683759 PMID:1362728 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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
treatment
ISO
RGD
PMID:16533530
RGD:11251777
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Cdkn2a_v2
cyclin-dependent kinase inhibitor 2A, variant 2
treatment
ISO
RGD
PMID:16533530
RGD:11251777
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: Chronic myelogenous leukemia
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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Jak2
Janus kinase 2
ISO
ClinVar Annotator: match by term: Chronic myelogenous leukemia
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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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 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:18316791 PMID:19018267 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20921462 PMID:20921465 PMID:20949621 PMID:21044336 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22235099 PMID:22407852 PMID:22683711 PMID:22897852 PMID:23096712 PMID:23406027 PMID:24033266 PMID:24138715 PMID:25157968 PMID:25741868 PMID:26242988 PMID:26372703 PMID:28492532 PMID:29298116 PMID:31891627 More...
NCBI chr 4:178,185,418...178,218,484
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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
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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
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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
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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
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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
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Ncstn
nicastrin
ISS
OMIM:608232
MouseDO
NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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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
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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
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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 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18948947 PMID:19075190 PMID:19657110 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21305640 PMID:21729679 PMID:21829508 PMID:22407852 PMID:23134356 PMID:23334668 PMID:23414587 PMID:23515407 PMID:23614898 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28594414 PMID:30417923 PMID:32888943 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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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
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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
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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
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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
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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
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
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
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
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
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
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
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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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:29146883 More...
NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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 PMID:16783379 PMID:17209061 PMID:17881640 PMID:19172521 PMID:20301538 PMID:20729467 PMID:22706301 PMID:23704091 PMID:24453067 PMID:24728327 PMID:24766296 PMID:24952648 PMID:25741868 PMID:28492532 PMID:29146883 PMID:35030251 More...
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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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
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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
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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
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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
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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
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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
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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
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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
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Rps19
ribosomal protein S19
ISO
ClinVar Annotator: match by term: Congenital hypoplastic anemia
ClinVar
PMID:9988267 PMID:10753603 PMID:12586610 PMID:12750732 PMID:15384984 PMID:16159874 PMID:17053056 PMID:17082006 PMID:17517689 PMID:17726054 PMID:18412286 PMID:20378560 PMID:20395159 PMID:20606162 PMID:24952648 PMID:25741868 PMID:27882484 PMID:28102861 PMID:28492532 PMID:29766597 PMID:30503522 PMID:35923690 More...
NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:28492532 More...
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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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 PMID:28492532 More...
NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
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Aloxe3
arachidonate epidermal lipoxygenase 3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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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
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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 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,650,521...53,663,269
Ensembl chr10:53,650,553...53,663,913
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Asap3
ArfGAP with SH3 domain, ankyrin repeat and PH domain 3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,433,382...148,476,027
Ensembl chr 5:148,433,494...148,474,073
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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
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 PMID:28492532 More...
NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
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
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
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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
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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
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
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 PMID:28492532 More...
NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
G
Brdt
bromodomain testis associated
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:28492532
NCBI chr14:2,387,372...2,445,857
Ensembl chr14:2,387,796...2,445,842
G
Btbd8
BTB domain containing 8
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:28492532
NCBI chr14:2,265,187...2,338,426
Ensembl chr14:2,266,454...2,334,393
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C14h1orf146
similar to human chromosome 1 open reading frame 146
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:28492532
NCBI chr14:2,230,404...2,250,420
Ensembl chr14:2,231,451...2,270,782
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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
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
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
G
Cdc7
cell division cycle 7
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:28492532
NCBI chr14:2,804,660...2,824,796
Ensembl chr14:2,804,661...2,824,778
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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
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
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
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 PMID:28492532 More...
NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
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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
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
G
Cnr2
cannabinoid receptor 2
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
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 PMID:28492532 More...
NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
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
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 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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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 PMID:28492532 More...
NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911
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
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
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
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
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
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
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 PMID:19773262 PMID:20054847 PMID:20960466 PMID:22689679 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:27258031 PMID:27432187 PMID:28492532 PMID:28694211 PMID:28991257 PMID:29797310 PMID:30183354 PMID:30503522 More...
NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
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
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
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
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 PMID:28492532 More...
NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
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
G
E2f2
E2F transcription factor 2
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,399,193...148,422,595
Ensembl chr 5:148,399,642...148,421,217
G
Efnb3
ephrin B3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471
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
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
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
G
Eloa
elongin A
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,231,600...148,246,760
Ensembl chr 5:148,231,596...148,246,765
G
Ephx4
epoxide hydrolase 4
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:28492532
NCBI chr14:2,343,376...2,372,680
Ensembl chr14:2,340,248...2,373,022
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
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
G
Evi5
ecotropic viral integration site 5
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:28492532
NCBI chr14:1,875,601...2,021,678
Ensembl chr14:1,875,647...2,021,678
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
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
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
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
G
Fuca1
alpha-L-fucosidase 1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,152,718...148,169,972
Ensembl chr 5:148,152,700...148,169,972
G
Gale
UDP-galactose-4-epimerase
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,193,886...148,198,392
Ensembl chr 5:148,194,791...148,198,388
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 PMID:12200364 PMID:14691578 PMID:15070711 PMID:15895080 PMID:15920471 PMID:16095949 PMID:16103636 PMID:16199547 PMID:16783379 PMID:17209061 PMID:17576681 PMID:17713552 PMID:17881640 PMID:19172521 PMID:20301538 PMID:20729467 PMID:20922527 PMID:22706301 PMID:23704091 PMID:24255919 PMID:24453067 PMID:24728327 PMID:24766296 PMID:24952648 PMID:25232504 PMID:25741868 PMID:27993330 PMID:28492532 PMID:29146883 PMID:35030251 PMID:35328001 PMID:36845397 More...
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
G
Gfi1
growth factor independent 1 transcriptional repressor
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:28492532
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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
G
Glmn
glomulin, FKBP associated protein
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:28492532
NCBI chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420
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
G
Grhl3
grainyhead-like transcription factor 3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:147,774,161...147,806,291
Ensembl chr 5:147,774,160...147,806,160
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
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
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 PMID:28492532 More...
NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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
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 PMID:28492532 More...
NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097
G
Hfm1
helicase for meiosis 1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:28492532
NCBI chr14:2,857,251...2,943,766
Ensembl chr14:2,856,599...2,939,238
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
G
Hmgcl
3-hydroxy-3-methylglutaryl-CoA lyase
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,178,203...148,192,072
Ensembl chr 5:148,178,252...148,192,068
G
Hnrnpr
heterogeneous nuclear ribonucleoprotein R
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,542,999...148,574,888
Ensembl chr 5:148,543,044...148,574,867
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
G
Htr1d
5-hydroxytryptamine receptor 1D
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,656,252...148,676,532
Ensembl chr 5:148,674,495...148,675,619
G
Id3
inhibitor of DNA binding 3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,372,784...148,374,353
Ensembl chr 5:148,372,762...148,374,349
G
Ifnlr1
interferon, lambda receptor 1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:147,919,547...147,942,328
Ensembl chr 5:147,919,908...147,942,332
G
Il22ra1
interleukin 22 receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:147,961,496...147,986,296
Ensembl chr 5:147,961,349...147,986,296
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 PMID:29146883 More...
NCBI chr11:67,730,117...67,771,170
Ensembl chr11:67,730,247...67,771,168
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
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 PMID:28492532 More...
NCBI chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174
G
Kdm1a
lysine demethylase 1A
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319
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 PMID:28492532 More...
NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
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
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
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
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
G
Luzp1
leucine zipper protein 1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,706,094...148,781,616
Ensembl chr 5:148,706,138...148,781,609
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
G
Lypla2
lysophospholipase 2
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,198,466...148,203,062
Ensembl chr 5:148,198,439...148,203,092
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
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
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
G
Myom3
myomesin 3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:147,992,737...148,043,282
Ensembl chr 5:147,992,737...148,043,274
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 PMID:28492532 More...
NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
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
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 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,628,592...53,634,525
Ensembl chr10:53,628,759...53,634,359
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
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 PMID:28492532 More...
NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
G
Pfas
phosphoribosylformylglycinamidine synthase
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:22431104 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
G
Pithd1
PITH domain containing 1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,205,995...148,216,490
Ensembl chr 5:148,205,998...148,217,080
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
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
G
Pnrc2
proline-rich nuclear receptor coactivator 2
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,103,966...148,106,950
Ensembl chr 5:148,095,699...148,107,242 Ensembl chr 5:148,095,699...148,107,242
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
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
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
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
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
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
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
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 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,677,467...53,678,880
Ensembl chr10:53,677,467...53,678,840
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 PMID:28492532 More...
NCBI chr10:54,061,054...54,063,015
Ensembl chr10:54,059,947...54,063,010
G
Rpap2
RNA polymerase II associated protein 2
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:28492532
NCBI chr14:2,109,044...2,187,343
Ensembl chr14:2,109,053...2,187,350
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 PMID:20960466 PMID:22689679 PMID:23718193 PMID:25741868 PMID:26136524 PMID:26185635 PMID:28492532 PMID:30503522 More...
NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
G
Rpl17
ribosomal protein L17
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:39088281
NCBI chr18:68,581,141...68,584,253
Ensembl chr18:68,581,098...68,584,253
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
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 PMID:22387016 PMID:22431104 PMID:23172776 PMID:25741868 PMID:28492532 More...
NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966
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 PMID:29146883 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
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 PMID:19773262 PMID:20054847 PMID:20378560 PMID:20960466 PMID:22689679 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:27258031 PMID:27432187 PMID:28492532 PMID:28694211 PMID:28991257 PMID:29797310 PMID:30183354 PMID:30503522 PMID:33718801 More...
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
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 PMID:23718193 PMID:25741868 PMID:28065601 PMID:28132843 PMID:28492532 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
G
Rps10l6
ribosomal protein S10 like 6
ISO
ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 More...
NCBI chr15:18,308,287...18,309,139
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
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
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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 PMID:10753603 PMID:11112378 PMID:12586610 PMID:12750732 PMID:15059149 PMID:15075082 PMID:15384984 PMID:15523650 PMID:16159874 PMID:16199547 PMID:17053056 PMID:17082006 PMID:17376718 PMID:17517689 PMID:17576681 PMID:17726054 PMID:18217898 PMID:18412286 PMID:18768533 PMID:20378560 PMID:20395159 PMID:20603584 PMID:20606162 PMID:20960466 PMID:22045982 PMID:22262766 PMID:22381658 PMID:22783360 PMID:23349008 PMID:24033266 PMID:24675553 PMID:24952648 PMID:25042156 PMID:25132370 PMID:25381059 PMID:25703294 PMID:25741868 PMID:25946618 PMID:26136524 PMID:26604301 PMID:27329125 PMID:27882484 PMID:28102861 PMID:28376382 PMID:28492532 PMID:29766597 PMID:30503522 PMID:31574871 PMID:33718801 PMID:34110484 PMID:35923690 PMID:36321656 More...
NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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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
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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 PMID:22855961 PMID:25741868 PMID:26136524 PMID:27029625 PMID:28492532 PMID:29748317 More...
NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
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Rps26
ribosomal protein S26
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19816270 PMID:20116044 PMID:22381658 PMID:23718193 PMID:24675553 PMID:24942156 PMID:25741868 PMID:26136524 PMID:26604301 PMID:27329125 PMID:28102861 PMID:28492532 More...
NCBI chr 7:1,057,332...1,058,882
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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
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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
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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 PMID:28492532 More...
NCBI chr10:54,070,959...54,071,098
Ensembl chr10:54,070,959...54,071,098
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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
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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
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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
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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
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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 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,672,851...53,677,501
Ensembl chr10:53,673,340...53,698,160
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Snora66
small nucleolar RNA, H/ACA box 66
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:25741868
NCBI chr14:1,844,373...1,844,504
Ensembl chr14:1,844,373...1,844,504
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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 PMID:28492532 More...
NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
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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
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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
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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
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Srsf10
serine and arginine rich splicing factor 10
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,088,759...148,102,964
Ensembl chr 5:148,088,823...148,101,768
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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
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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
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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
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Tcea3
transcription elongation factor A3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,476,941...148,509,452
Ensembl chr 5:148,476,941...148,509,448
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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
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Tgfbr3
transforming growth factor beta receptor 3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:28492532
NCBI chr14:2,489,397...2,665,383
Ensembl chr14:2,489,397...2,663,341
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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
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Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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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
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Tmem88
transmembrane protein 88
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:28492532 More...
NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447
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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
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:20522432 PMID:21056402 PMID:22267198 PMID:22387016 PMID:23172776 PMID:25741868 PMID:28492532 PMID:30146126 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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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 PMID:28492532 More...
NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331
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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
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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 PMID:28492532 More...
NCBI chr10:53,793,581...53,797,815
Ensembl chr10:53,793,923...53,797,809
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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
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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 PMID:28492532 More...
NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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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
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Zfp46
zinc finger protein 46
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia
ClinVar
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532
NCBI chr 5:148,519,398...148,529,903
Ensembl chr 5:148,520,855...148,529,459
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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
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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
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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
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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 PMID:23718193 PMID:25741868 PMID:28492532 More...
NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
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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
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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 PMID:23718193 PMID:25741868 PMID:28492532 More...
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
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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 PMID:12586610 PMID:12750732 PMID:15384984 PMID:16159874 PMID:17053056 PMID:17082006 PMID:17517689 PMID:17726054 PMID:18412286 PMID:18768533 PMID:19765279 PMID:20378560 PMID:20395159 PMID:20606162 PMID:20960466 PMID:23812780 PMID:24033266 PMID:24675553 PMID:24952648 PMID:25069755 PMID:25741868 PMID:25946618 PMID:27329125 PMID:28102861 PMID:28376382 PMID:28492532 PMID:30503522 PMID:31574871 PMID:33718801 PMID:35923690 More...
NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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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 PMID:28492532 More...
NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341
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Rps26
ribosomal protein S26
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 PMID:20116044 PMID:21414820 PMID:22045982 PMID:22381658 PMID:22689679 PMID:23718193 PMID:23812780 PMID:24675553 PMID:24942156 PMID:25741868 PMID:25946618 PMID:26136524 PMID:28102861 PMID:28492532 PMID:29114930 More...
NCBI chr 7:1,057,332...1,058,882
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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
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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
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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
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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
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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
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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
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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 PMID:24942156 PMID:28492532 More...
NCBI chr 7:1,057,332...1,058,882
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:25741868 PMID:26845104 PMID:27329125 PMID:28492532 PMID:29748317 PMID:30228860 More...
NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
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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
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Fyttd1
forty-two-three domain containing 1
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
ClinVar
PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532
NCBI chr11:67,877,967...67,907,500
Ensembl chr11:67,877,967...67,907,511
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 PMID:22689679 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 PMID:29146883 PMID:32241839 More...
NCBI chr11:67,730,117...67,771,170
Ensembl chr11:67,730,247...67,771,168
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Lrch3
leucine rich repeats and calponin homology domain containing 3
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
ClinVar
PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532
NCBI chr11:67,772,499...67,872,269
Ensembl chr11:67,772,506...67,872,264
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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 PMID:22689679 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 PMID:29146883 PMID:32241839 PMID:22689679 PMID:18535205 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
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Rubcn
rubicon autophagy regulator
ISO
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5
ClinVar
PMID:18535205 PMID:22262766 PMID:22689679 PMID:25946618 PMID:28492532
NCBI chr11:67,907,534...67,964,347
Ensembl chr11:67,907,516...67,964,314
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Dipk1a
divergent protein kinase domain 1A
ISO
ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6
ClinVar
PMID:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:27258031 PMID:28492532 PMID:28694211 PMID:28991257 PMID:29797310 PMID:30183354 PMID:30503522 More...
NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
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Rpl5
ribosomal protein L5
ISO ISS
ClinVar Annotator: match by term: Aase-Smith syndrome II | ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 OMIM:612561 DNA:mutations:multiple (human) DNA:snps, deletions, insertions:exons, introns:multiple (human) DNA:snp, insertion, deletion:exons:g.3G>T, g.37_38insT, g.473_474delAA (human) DNA:insertion, nonsense mutation, deletion:cds:c.197_198insA, c.390C>G, c.169-172delAACA (human) DNA:snps, duplication, deletions:exons:multiple (human)
OMIM ClinVar MouseDO RGD
PMID:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:27258031 PMID:28492532 PMID:28694211 PMID:28991257 PMID:29797310 PMID:30183354 PMID:30503522 PMID:25946618 PMID:19061985 PMID:19773262 PMID:20378560 PMID:25132370 PMID:19191325 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
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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 PMID:23718193 PMID:25741868 PMID:28492532 PMID:30503522 PMID:26489471 PMID:25946618 PMID:19061985 PMID:20378560 PMID:19773262 PMID:19191325 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
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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
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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
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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
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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 PMID:25424902 PMID:25741868 PMID:25946618 PMID:27882484 PMID:28102861 PMID:28492532 PMID:29114930 PMID:32054657 PMID:36057918 More...
NCBI chr 6:45,266,200...45,271,064
Ensembl chr 6:45,223,980...45,271,145
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:19636672 PMID:20434300 PMID:21942426 PMID:23130336 More...
RGD:10449178
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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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 PMID:15269348 PMID:15531462 PMID:16199547 PMID:16470591 PMID:17054430 PMID:17666371 PMID:18090929 PMID:18422784 PMID:18451306 PMID:18528423 PMID:19036112 PMID:19483125 PMID:19608689 PMID:20151976 PMID:20188141 PMID:21489838 PMID:23970983 PMID:24033266 PMID:24438083 PMID:24728327 PMID:25538044 PMID:25741868 PMID:26316487 PMID:27069254 PMID:28492532 PMID:28697167 PMID:31064749 PMID:35776903 PMID:14764528 PMID:11122159 More...
RGD:10449014 , RGD:10449016
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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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
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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
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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
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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 PMID:28484264 PMID:29590070 PMID:31298594 More...
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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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
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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
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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 PMID:19553636 PMID:22194398 PMID:22453305 PMID:25741868 PMID:28492532 PMID:28955303 PMID:32430933 PMID:36226497 PMID:9425899 More...
RGD:1580083
Ensembl chr11:80,182,820...80,188,167
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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
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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
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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
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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
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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 PMID:8174675 PMID:8506290 PMID:8608241 PMID:9292543 PMID:9394420 PMID:9488636 PMID:9649565 PMID:10498627 PMID:17488692 PMID:24115288 PMID:25741868 PMID:26010769 PMID:27993330 PMID:28492532 PMID:9192789 PMID:11929803 PMID:9394420 PMID:8506290 PMID:20700488 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
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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 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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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 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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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 PMID:29590070 More...
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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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
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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 PMID:19764026 PMID:20567917 PMID:28492532 More...
NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
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Fancd2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Chuvash polycythemia
ClinVar
PMID:8634692 PMID:10567493 PMID:10830910 PMID:17537157 PMID:19280651 PMID:19764026 PMID:20567917 PMID:28492532 More...
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Chuvash polycythemia
ClinVar
PMID:8634692 PMID:10567493 PMID:10830910 PMID:17537157 PMID:19280651 PMID:19764026 PMID:20567917 PMID:28492532 More...
NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
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Irak2
interleukin-1 receptor-associated kinase 2
ISO
ClinVar Annotator: match by term: Chuvash polycythemia
ClinVar
PMID:9663592 PMID:17102083 PMID:17661816 PMID:19336503 PMID:24555745 PMID:28492532 More...
NCBI chr 4:146,786,004...146,842,615
Ensembl chr 4:146,786,100...146,842,602
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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
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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 PMID:7553625 PMID:7563486 PMID:7660122 PMID:7728151 PMID:7759077 PMID:7784063 PMID:7915601 PMID:7977367 PMID:7987306 PMID:7987327 PMID:8069305 PMID:8187067 PMID:8239848 PMID:8270255 PMID:8493574 PMID:8522307 PMID:8550742 PMID:8592333 PMID:8634692 PMID:8641695 PMID:8641976 PMID:8700833 PMID:8707293 PMID:8730290 PMID:8772572 PMID:8825918 PMID:8825919 PMID:8863170 PMID:8956040 PMID:9058738 PMID:9067265 PMID:9156047 PMID:9209471 PMID:9215674 PMID:9329368 PMID:9398721 PMID:9399847 PMID:9435426 PMID:9447969 PMID:9452032 PMID:9463336 PMID:9523203 PMID:9536098 PMID:9663592 PMID:9671762 PMID:9681856 PMID:9681858 PMID:9751722 PMID:9770531 PMID:9829911 PMID:9829912 PMID:9880225 PMID:10088816 PMID:10102622 PMID:10205047 PMID:10326868 PMID:10340905 PMID:10364675 PMID:10408776 PMID:10458336 PMID:10533030 PMID:10563480 PMID:10567493 PMID:10570625 PMID:10587522 PMID:10612827 PMID:10612832 PMID:10627136 PMID:10697963 PMID:10761708 PMID:10766184 PMID:10823831 PMID:10830910 PMID:10862095 PMID:10878807 PMID:10900011 PMID:11024059 PMID:11058902 PMID:11106358 PMID:11114638 PMID:11148816 PMID:11160785 PMID:11257211 PMID:11309459 PMID:11331612 PMID:11331613 PMID:11409863 PMID:11483638 PMID:11505222 PMID:11536052 PMID:11688393 PMID:11688398 PMID:11709017 PMID:11739384 PMID:11835384 PMID:11865071 PMID:11896624 PMID:11921283 PMID:11986208 PMID:11987242 PMID:12000816 PMID:12004076 PMID:12050673 PMID:12053037 PMID:12081237 PMID:12097293 PMID:12114475 PMID:12114495 PMID:12202531 PMID:12393546 PMID:12414898 PMID:12415268 PMID:12500216 PMID:12510195 PMID:12538644 PMID:12603429 PMID:12624160 PMID:12629069 PMID:12702509 PMID:12807974 PMID:12844285 PMID:12853836 PMID:12912922 PMID:12944410 PMID:13985160 PMID:14500403 PMID:14556007 PMID:14604959 PMID:14691445 PMID:14722919 PMID:14726398 PMID:14767570 PMID:14965365 PMID:14973063 PMID:14987375 PMID:15002726 PMID:15109448 PMID:15177666 PMID:15241800 PMID:15300849 PMID:15574766 PMID:15607616 PMID:15611064 PMID:15642664 PMID:15642680 PMID:15709172 PMID:15881703 PMID:15918937 PMID:15921386 PMID:15932632 PMID:16103922 PMID:16142346 PMID:16199547 PMID:16210343 PMID:16261165 PMID:16314641 PMID:16452184 PMID:16488999 PMID:16502427 PMID:16505488 PMID:16572651 PMID:16585181 PMID:16595991 PMID:16669786 PMID:16775032 PMID:16809612 PMID:16847331 PMID:16868829 PMID:16884327 PMID:16884328 PMID:16952288 PMID:16969113 PMID:17001110 PMID:17006605 PMID:17024664 PMID:17060462 PMID:17102069 PMID:17102080 PMID:17102082 PMID:17102083 PMID:17102087 PMID:17102088 PMID:17159241 PMID:17264095 PMID:17350623 PMID:17392848 PMID:17407064 PMID:17537157 PMID:17576681 PMID:17640059 PMID:17661816 PMID:17688370 PMID:17700531 PMID:17898043 PMID:17906660 PMID:17919893 PMID:17922902 PMID:17967880 PMID:17992257 PMID:17997830 PMID:18031321 PMID:18067796 PMID:18195360 PMID:18205710 PMID:18209888 PMID:18446368 PMID:18544564 PMID:18551016 PMID:18567581 PMID:18580449 PMID:18584357 PMID:18676741 PMID:18685280 PMID:18836774 PMID:18928468 PMID:19009041 PMID:19029228 PMID:19030229 PMID:19096585 PMID:19215943 PMID:19228690 PMID:19252526 PMID:19258401 PMID:19270817 PMID:19280651 PMID:19293973 PMID:19304954 PMID:19309509 PMID:19333546 PMID:19336503 PMID:19408298 PMID:19464396 PMID:19494350 PMID:19558618 PMID:19574279 PMID:19576851 PMID:19602254 PMID:19620968 PMID:19694021 PMID:19763184 PMID:19764026 PMID:19808854 PMID:19906784 PMID:19949673 PMID:19958924 PMID:19996202 PMID:20034980 PMID:20054297 PMID:20064270 PMID:20120764 PMID:20151405 PMID:20223044 PMID:20233476 PMID:20300531 PMID:20351605 PMID:20388653 PMID:20447124 PMID:20518900 PMID:20560986 PMID:20567917 PMID:20583150 PMID:20660572 PMID:20844582 PMID:20846682 PMID:20850701 PMID:20855504 PMID:20952280 PMID:21204227 PMID:21258414 PMID:21362373 PMID:21384277 PMID:21386872 PMID:21389259 PMID:21449869 PMID:21454469 PMID:21463266 PMID:21606165 PMID:21685897 PMID:21713522 PMID:21715564 PMID:21784903 PMID:21791076 PMID:21876117 PMID:21972040 PMID:21993671 PMID:22071692 PMID:22105611 PMID:22105711 PMID:22156657 PMID:22234250 PMID:22241717 PMID:22265326 PMID:22357542 PMID:22393103 PMID:22438210 PMID:22462637 PMID:22517557 PMID:22566194 PMID:22649785 PMID:22683710 PMID:22703879 PMID:22799452 PMID:22825683 PMID:23015148 PMID:23036577 PMID:23070752 PMID:23102223 PMID:23143947 PMID:23224817 PMID:23298237 PMID:23315997 PMID:23318261 PMID:23327821 PMID:23384228 PMID:23397066 PMID:23403324 PMID:23407287 PMID:23407919 PMID:23434161 PMID:23512077 PMID:23538339 PMID:23541568 PMID:23606570 PMID:23626751 PMID:23632291 PMID:23660872 PMID:23673869 PMID:23772956 PMID:23788753 PMID:23840444 PMID:23842656 PMID:23845641 PMID:23859443 PMID:23968328 PMID:23990664 PMID:23990666 PMID:24002598 PMID:24033266 PMID:24055113 PMID:24102379 PMID:24115288 PMID:24132471 PMID:24134185 PMID:24166983 PMID:24206762 PMID:24301059 PMID:24335534 PMID:24339559 PMID:24446253 PMID:24466223 PMID:24518179 PMID:24555745 PMID:24581539 PMID:24583008 PMID:24678776 PMID:24707167 PMID:24727139 PMID:24728327 PMID:24729484 PMID:24779271 PMID:24969085 PMID:24977658 PMID:25069792 PMID:25078357 PMID:25081542 PMID:25119015 PMID:25157968 PMID:25282218 PMID:25310726 PMID:25371412 PMID:25405498 PMID:25557216 PMID:25562111 PMID:25563310 PMID:25583177 PMID:25586603 PMID:25637381 PMID:25640679 PMID:25715769 PMID:25720320 PMID:25741868 PMID:25825477 PMID:25867206 PMID:25885250 PMID:25952756 PMID:25966224 PMID:25985138 PMID:26206375 PMID:26211615 PMID:26224408 PMID:26228213 PMID:26230854 PMID:26268347 PMID:26323595 PMID:26332594 PMID:26467025 PMID:26484545 PMID:26503325 PMID:26580448 PMID:26622630 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26846855 PMID:26920352 PMID:26934580 PMID:26957611 PMID:26973240 PMID:27034144 PMID:27057652 PMID:27146957 PMID:27179072 PMID:27311873 PMID:27439424 PMID:27498913 PMID:27517496 PMID:27527340 PMID:27530247 PMID:27539324 PMID:27578599 PMID:27617348 PMID:27651169 PMID:27682873 PMID:27730413 PMID:27785399 PMID:27811160 PMID:28052007 PMID:28202063 PMID:28235946 PMID:28288108 PMID:28379443 PMID:28388566 PMID:28432847 PMID:28454591 PMID:28469506 PMID:28492532 PMID:28503092 PMID:28643803 PMID:28650583 PMID:28724667 PMID:28775317 PMID:28781534 PMID:28849724 PMID:28873162 PMID:28944243 PMID:28951115 PMID:28973655 PMID:29022557 PMID:29124493 PMID:29294023 PMID:29510814 PMID:29595810 PMID:29607586 PMID:29616089 PMID:29625052 PMID:29662268 PMID:29684080 PMID:29748190 PMID:29749453 PMID:29758562 PMID:29790589 PMID:29871882 PMID:29891534 PMID:29946849 PMID:29949369 PMID:29978187 PMID:30006056 PMID:30042107 PMID:30093976 PMID:30105105 PMID:30185211 PMID:30194449 PMID:30278534 PMID:30338240 PMID:30477447 PMID:30522901 PMID:30548481 PMID:30877234 PMID:30890701 PMID:30900640 PMID:30902965 PMID:30943211 PMID:30946460 PMID:31034483 PMID:31087189 PMID:31132167 PMID:31149315 PMID:31159747 PMID:31317677 PMID:31337753 PMID:31350093 PMID:31368132 PMID:31383958 PMID:31397861 PMID:31447099 PMID:31515488 PMID:31528828 PMID:31538058 PMID:31620170 PMID:31666924 PMID:31779674 PMID:31980715 PMID:31996412 PMID:32101665 PMID:32106822 PMID:32238909 PMID:32303605 PMID:32420132 PMID:32561571 PMID:32671223 PMID:32869749 PMID:33004005 PMID:33151962 PMID:33219105 PMID:33362715 PMID:33720516 PMID:33745191 PMID:33777662 PMID:33840814 PMID:33938902 PMID:34036514 PMID:34109129 PMID:34122352 PMID:34416425 PMID:34439168 PMID:34439371 PMID:34566400 PMID:34628056 PMID:34994648 PMID:35008334 PMID:35032816 PMID:35448166 PMID:35466127 PMID:35475554 PMID:35505422 PMID:35668420 PMID:35734542 PMID:35938916 PMID:36281577 PMID:36384467 PMID:36401171 PMID:36480544 PMID:36625343 PMID:37246471 PMID:38020566 PMID:38595826 More...
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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 PMID:19092153 PMID:20959442 PMID:21933857 PMID:24115288 PMID:24121508 PMID:24482100 PMID:25741868 PMID:28400504 PMID:28492532 PMID:29741264 PMID:29790589 PMID:32755251 More...
NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777
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 PMID:21389259 PMID:22367913 PMID:22992668 PMID:23716564 PMID:25741868 PMID:27292716 PMID:27651169 PMID:28492532 PMID:29790589 PMID:34828399 PMID:35484400 More...
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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
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 PMID:81926 PMID:88735 PMID:234980 PMID:239863 PMID:478981 PMID:563749 PMID:639985 PMID:678476 PMID:747183 PMID:750556 PMID:826083 PMID:893136 PMID:903694 PMID:909565 PMID:949044 PMID:1052179 PMID:1052180 PMID:1112610 PMID:1117598 PMID:1164510 PMID:1164511 PMID:1201208 PMID:1246355 PMID:1249207 PMID:1301203 PMID:1353069 PMID:1376298 PMID:1390250 PMID:1427786 PMID:1428944 PMID:1463768 PMID:1483699 PMID:1610915 PMID:1634236 PMID:1634368 PMID:1680789 PMID:1709134 PMID:1732017 PMID:1734721 PMID:1769663 PMID:1802884 PMID:1814856 PMID:1917531 PMID:1960615 PMID:1967205 PMID:1986365 PMID:1986379 PMID:2001456 PMID:2004023 PMID:2030155 PMID:2064964 PMID:2123063 PMID:2197725 PMID:2200760 PMID:2200762 PMID:2239966 PMID:2296310 PMID:2298457 PMID:2346726 PMID:2393712 PMID:2412200 PMID:2446680 PMID:2458145 PMID:2467892 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2599884 PMID:2606476 PMID:2606727 PMID:2634667 PMID:2703368 PMID:2713503 PMID:2753736 PMID:2867271 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 PMID:2920213 PMID:2987224 PMID:2987809 PMID:3031297 PMID:3048433 PMID:3114176 PMID:3170235 PMID:3207692 PMID:3267215 PMID:3348204 PMID:3354556 PMID:3422218 PMID:3462712 PMID:3623972 PMID:3623977 PMID:3690667 PMID:3691763 PMID:3752087 PMID:3793825 PMID:3821796 PMID:3839762 PMID:3840039 PMID:3859465 PMID:3930571 PMID:3935609 PMID:3957690 PMID:3957694 PMID:4232783 PMID:4338724 PMID:4342316 PMID:4351905 PMID:4413656 PMID:4514629 PMID:4639015 PMID:4683875 PMID:4719677 PMID:4742453 PMID:4808644 PMID:4808645 PMID:5011106 PMID:5026295 PMID:5073564 PMID:5080413 PMID:5128393 PMID:5280664 PMID:5282843 PMID:5347519 PMID:5481775 PMID:5492847 PMID:5609824 PMID:5619995 PMID:5651043 PMID:5658717 PMID:5687529 PMID:5773089 PMID:5775133 PMID:5796352 PMID:5863839 PMID:5915974 PMID:6019668 PMID:6061750 PMID:6061751 PMID:6061752 PMID:6067323 PMID:6162860 PMID:6166590 PMID:6166632 PMID:6188062 PMID:6189507 PMID:6190800 PMID:6198908 PMID:6246994 PMID:6264391 PMID:6264477 PMID:6268660 PMID:6270663 PMID:6272289 PMID:6275383 PMID:6280057 PMID:6285354 PMID:6304979 PMID:6310991 PMID:6316272 PMID:6320218 PMID:6434492 PMID:6457059 PMID:6500987 PMID:6546989 PMID:6572978 PMID:6583683 PMID:6583702 PMID:6584911 PMID:6585831 PMID:6589624 PMID:6629830 PMID:6695908 PMID:6714226 PMID:6745619 PMID:6821648 PMID:6826539 PMID:6863429 PMID:6874372 PMID:6896219 PMID:6985481 PMID:7076659 PMID:7097767 PMID:7137165 PMID:7151176 PMID:7158624 PMID:7161106 PMID:7177196 PMID:7204092 PMID:7204093 PMID:7229029 PMID:7295777 PMID:7312624 PMID:7384810 PMID:7395858 PMID:7417488 PMID:7522523 PMID:7558878 PMID:7615400 PMID:7668219 PMID:7683931 PMID:7908281 PMID:7909640 PMID:7993409 PMID:8095930 PMID:8144354 PMID:8168595 PMID:8172199 PMID:8199027 PMID:8199597 PMID:8201467 PMID:8262525 PMID:8330981 PMID:8373896 PMID:8435318 PMID:8454469 PMID:8462981 PMID:8477263 PMID:8518184 PMID:8602996 PMID:8619407 PMID:8701949 PMID:8718703 PMID:8839873 PMID:8917506 PMID:8954892 PMID:8980256 PMID:9028827 PMID:9048934 PMID:9101280 PMID:9101288 PMID:9113933 PMID:9140720 PMID:9163586 PMID:9225979 PMID:9342003 PMID:9401495 PMID:9450794 PMID:9490703 PMID:9536098 PMID:9556665 PMID:9586437 PMID:9653159 PMID:9834244 PMID:9845707 PMID:9859938 PMID:9949622 PMID:10203101 PMID:10335979 PMID:10335989 PMID:10583251 PMID:10606872 PMID:10612821 PMID:10722117 PMID:10815781 PMID:10846826 PMID:11001883 PMID:11179419 PMID:11186258 PMID:11300348 PMID:11425418 PMID:11501714 PMID:11559932 PMID:11713529 PMID:11741197 PMID:11791873 PMID:11830454 PMID:11857746 PMID:11880644 PMID:11939508 PMID:11939509 PMID:11939510 PMID:11946541 PMID:12000828 PMID:12124399 PMID:12144057 PMID:12149194 PMID:12368169 PMID:12383672 PMID:12403498 PMID:12702481 PMID:12764548 PMID:12779277 PMID:12818227 PMID:12850492 PMID:13066514 PMID:13108995 PMID:13115700 PMID:13369537 PMID:13464827 PMID:13618691 PMID:13685866 PMID:13716853 PMID:13852872 PMID:14081243 PMID:14084634 PMID:14091853 PMID:14117783 PMID:14405428 PMID:14492555 PMID:14555304 PMID:14576320 PMID:14613965 PMID:14734204 PMID:14808148 PMID:15000665 PMID:15108284 PMID:15114532 PMID:15181845 PMID:15278762 PMID:15395398 PMID:15470211 PMID:15481886 PMID:15543018 PMID:15654898 PMID:15658184 PMID:15973412 PMID:16001361 PMID:16044458 PMID:16103715 PMID:16114182 PMID:16175509 PMID:16199547 PMID:16291734 PMID:16311287 PMID:16421096 PMID:16470532 PMID:16750922 PMID:16821247 PMID:16987804 PMID:17145605 PMID:17278112 PMID:17287491 PMID:17331080 PMID:17365006 PMID:17486505 PMID:17576681 PMID:17654071 PMID:17774955 PMID:17795074 PMID:17932132 PMID:17994378 PMID:18024613 PMID:18048408 PMID:18096416 PMID:18192399 PMID:18294253 PMID:18568278 PMID:18603555 PMID:18793248 PMID:18818920 PMID:18954999 PMID:18976160 PMID:19000664 PMID:19061217 PMID:19092326 PMID:19254853 PMID:19429541 PMID:19465909 PMID:19486366 PMID:19657836 PMID:19657842 PMID:19727720 PMID:19758965 PMID:19841268 PMID:19960060 PMID:20132300 PMID:20181291 PMID:20236848 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20353354 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20628988 PMID:20642336 PMID:20704537 PMID:20737602 PMID:20788973 PMID:20861612 PMID:20954261 PMID:20981092 PMID:21045822 PMID:21119755 PMID:21131035 PMID:21194254 PMID:21228398 PMID:21250876 PMID:21302591 PMID:21329186 PMID:21389146 PMID:21417574 PMID:21509314 PMID:21529713 PMID:21732929 PMID:21797703 PMID:22010933 PMID:22028795 PMID:22075726 PMID:22110956 PMID:22188014 PMID:22200002 PMID:22239493 PMID:22244832 PMID:22260787 PMID:22271886 PMID:22335963 PMID:22392582 PMID:22471768 PMID:22494447 PMID:22563936 PMID:22625666 PMID:22957039 PMID:22975760 PMID:23065522 PMID:23144702 PMID:23162295 PMID:23234478 PMID:23297836 PMID:23321370 PMID:23348723 PMID:23425204 PMID:23457306 PMID:23590658 PMID:23591685 PMID:23637309 PMID:23859443 PMID:24052702 PMID:24055728 PMID:24099628 PMID:24106605 PMID:24115288 PMID:24123366 PMID:24200101 PMID:24200214 PMID:24245819 PMID:24368026 PMID:24369358 PMID:24493127 PMID:24581976 PMID:24616059 PMID:24616209 PMID:24754789 PMID:24777453 PMID:24857915 PMID:24880717 PMID:25000193 PMID:25016698 PMID:25023084 PMID:25023085 PMID:25087612 PMID:25089872 PMID:25113778 PMID:25135424 PMID:25155404 PMID:25332589 PMID:25370867 PMID:25408857 PMID:25412720 PMID:25480500 PMID:25488433 PMID:25525159 PMID:25572186 PMID:25617386 PMID:25666204 PMID:25677748 PMID:25741868 PMID:25825561 PMID:25849334 PMID:25856402 PMID:25976460 PMID:26029792 PMID:26041415 PMID:26044735 PMID:26076395 PMID:26076396 PMID:26084319 PMID:26097845 PMID:26193974 PMID:26275168 PMID:26290351 PMID:26291967 PMID:26366554 PMID:26372199 PMID:26436569 PMID:26467025 PMID:26554253 PMID:26554862 PMID:26594346 PMID:26635043 PMID:26661037 PMID:26897028 PMID:26956563 PMID:27117572 PMID:27199182 PMID:27207683 PMID:27251090 PMID:27254408 PMID:27263053 PMID:27427187 PMID:27453201 PMID:27651169 PMID:27690257 PMID:27756326 PMID:27821015 PMID:27823958 PMID:27828729 PMID:27829304 PMID:27884173 PMID:27979672 PMID:28251416 PMID:28276871 PMID:28356267 PMID:28361595 PMID:28366028 PMID:28385923 PMID:28391758 PMID:28492532 PMID:28635337 PMID:28667000 PMID:28670940 PMID:28685465 PMID:28802248 PMID:28865746 PMID:29199120 PMID:29295702 PMID:29319890 PMID:29484903 PMID:29695942 PMID:29790589 PMID:30002798 PMID:30033078 PMID:30046479 PMID:30249157 PMID:30315176 PMID:30423154 PMID:30489691 PMID:30604644 PMID:30820323 PMID:30843739 PMID:31096791 PMID:31130284 PMID:31132167 PMID:31134759 PMID:31190580 PMID:31268351 PMID:31304856 PMID:31388287 PMID:31411089 PMID:31456457 PMID:31553106 PMID:31589614 PMID:31714438 PMID:31718331 PMID:31890591 PMID:32039214 PMID:32069775 PMID:32126744 PMID:32190157 PMID:32412692 PMID:32472543 PMID:32527859 PMID:32581362 PMID:32664780 PMID:32860008 PMID:32869674 PMID:33000750 PMID:33091040 PMID:33116287 PMID:33335418 PMID:33491330 PMID:33602051 PMID:33829933 PMID:33851260 PMID:34092029 PMID:34334128 PMID:34426522 PMID:34749363 PMID:35023007 PMID:35052472 PMID:35982159 PMID:35982160 PMID:36073655 PMID:37826942 More...
NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
G
Hba-a2
hemoglobin alpha, adult chain 2
ISO
ClinVar Annotator: match by term: ERYTHROCYTOSIS 7 | ClinVar Annotator: match by term: Erythrocytosis, familial, 7
OMIM ClinVar
PMID:11123 PMID:701083 PMID:701092 PMID:1390944 PMID:1428951 PMID:1517114 PMID:1634355 PMID:1686260 PMID:1787098 PMID:2268670 PMID:3142772 PMID:3384694 PMID:3583768 PMID:3667323 PMID:3718876 PMID:5913291 PMID:5967288 PMID:5988206 PMID:6153381 PMID:6188720 PMID:7213661 PMID:7518430 PMID:8251382 PMID:8745434 PMID:9494049 PMID:11410420 PMID:15182058 PMID:16798638 PMID:21599435 PMID:22738642 PMID:24081251 PMID:24200101 PMID:25741868 PMID:25818820 PMID:25897478 PMID:26193976 PMID:26329872 PMID:26467025 PMID:26715484 PMID:27207683 PMID:27577202 PMID:28125089 PMID:28506685 PMID:29477874 PMID:31111755 PMID:31113390 PMID:31693295 More...
NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392
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Hba-a3
hemoglobin alpha, adult chain 3
ISO
ClinVar Annotator: match by term: ERYTHROCYTOSIS 7 | ClinVar Annotator: match by term: Erythrocytosis, familial, 7
OMIM ClinVar
PMID:1634355 PMID:1634363 PMID:1686260 PMID:1787098 PMID:1988759 PMID:2227935 PMID:2752146 PMID:3384694 PMID:4212045 PMID:4550395 PMID:6153381 PMID:7803274 PMID:7928378 PMID:11186265 PMID:11410420 PMID:12217813 PMID:15182058 PMID:21599435 PMID:24081251 PMID:24200101 PMID:25741868 PMID:25818820 PMID:25897478 PMID:26193976 PMID:26467025 PMID:26715484 PMID:27207683 PMID:27577202 PMID:28125089 PMID:28506685 PMID:29477874 PMID:31111755 PMID:31113390 More...
NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481
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Bpgm
bisphosphoglycerate mutase
ISO
ClinVar Annotator: match by term: Diphosphoglycerate mutase deficiency of erythrocyte | ClinVar Annotator: match by term: Hemolytic anemia due to diphosphoglycerate mutase deficiency DNA:point mutation, deletion: :p.R89C (human)
OMIM ClinVar RGD
PMID:152321 PMID:1421379 PMID:2542247 PMID:15054810 PMID:25015942 PMID:25741868 PMID:28492532 PMID:1421379 More...
RGD:1600522
NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581
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Gata1
GATA binding protein 1
ISO
RGD
PMID:12149188
RGD:10450737
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Sh2b3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: Familial myelofibrosis
ClinVar
PMID:25741868
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Vps45
vacuolar protein sorting 45 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23599270
NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295
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Ace2
angiotensin converting enzyme 2
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,293,597...30,340,961
Ensembl chr X:30,293,589...30,340,977
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Acsf3
acyl-CoA synthetase family member 3
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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Ankrd11
ankyrin repeat domain containing 11
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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Aopep
aminopeptidase O
ISO
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar
PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8703809 PMID:8829660 PMID:08844212 PMID:08882868 PMID:9207444 PMID:9242535 PMID:9272737 PMID:9398857 PMID:9521584 PMID:9536098 PMID:09616183 PMID:10383195 PMID:11050007 PMID:12093742 PMID:12649160 PMID:12670332 PMID:12750283 PMID:14695169 PMID:15277238 PMID:15364573 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17703323 PMID:17924555 PMID:19557015 PMID:19714462 PMID:20301575 PMID:20509860 PMID:20869034 PMID:21279724 PMID:21520333 PMID:21659346 PMID:22382802 PMID:22720145 PMID:22778927 PMID:22995991 PMID:23028338 PMID:23613520 PMID:23634996 PMID:24033266 PMID:24469828 PMID:24584348 PMID:24728327 PMID:25741868 PMID:26466335 PMID:26467025 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26822237 PMID:26990548 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28775315 PMID:28878254 PMID:29641532 PMID:29654263 PMID:29753700 PMID:29905759 PMID:29922827 PMID:30031030 PMID:30322717 PMID:30541756 PMID:30613976 PMID:30630526 PMID:30967997 PMID:31102422 PMID:31133068 PMID:31589614 PMID:31721781 PMID:31784482 PMID:31874108 PMID:32427313 PMID:32496904 PMID:32546565 PMID:32566746 PMID:32659497 PMID:32885271 PMID:32923857 PMID:33050356 PMID:33084842 PMID:33471991 PMID:33780288 PMID:34106356 PMID:34117267 PMID:34308104 PMID:34326862 PMID:34426522 PMID:34445631 PMID:34654685 PMID:35264596 PMID:35739269 PMID:36315513 PMID:36474027 PMID:37349538 More...
NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331
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Ap1s2
adaptor related protein complex 1 subunit sigma 2
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,572,746...30,598,961
Ensembl chr X:30,572,751...30,597,262
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Aprt
adenine phosphoribosyl transferase
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
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Asb11
ankyrin repeat and SOCS box containing 11
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,014,485...30,037,808
Ensembl chr X:29,992,416...30,037,807
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Asb9
ankyrin repeat and SOCS box-containing 9
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:29,956,576...30,001,436
Ensembl chr X:29,956,576...30,001,105
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Banp
Btg3 associated nuclear protein
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
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Bmx
BMX non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,227,251...30,290,015
Ensembl chr X:30,227,251...30,289,993
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Brca2
BRCA2, DNA repair associated
susceptibility
ISO
DNA:mutation ClinVar Annotator: match by term: Fanconi anemia
ClinVar RGD
PMID:11030417 PMID:11185744 PMID:12491487 PMID:12955716 PMID:12960223 PMID:14670928 PMID:15026808 PMID:15070707 PMID:15635067 PMID:15645491 PMID:15876480 PMID:16825431 PMID:17924331 PMID:17972177 PMID:18284688 PMID:18431501 PMID:18627636 PMID:18779604 PMID:19043619 PMID:19620486 PMID:20104584 PMID:20127978 PMID:20927582 PMID:21120943 PMID:21218378 PMID:21523855 PMID:21548014 PMID:21702907 PMID:21719596 PMID:21990134 PMID:22009639 PMID:22034289 PMID:22126563 PMID:22228431 PMID:22293751 PMID:22486713 PMID:22874498 PMID:23555315 PMID:23704879 PMID:23893897 PMID:24033266 PMID:24055113 PMID:24123850 PMID:24728327 PMID:25085752 PMID:25186627 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25741868 PMID:26295337 PMID:26296701 PMID:26467025 PMID:26689913 PMID:26834852 PMID:26920070 PMID:27376475 PMID:28222693 PMID:28492532 PMID:28831036 PMID:29310832 PMID:29394989 PMID:29446198 PMID:29470806 PMID:29625052 PMID:29753700 PMID:29884841 PMID:30254663 PMID:30702160 PMID:31090900 PMID:31131967 PMID:31911673 PMID:32398771 PMID:32467295 PMID:32719484 PMID:33087929 PMID:33273034 PMID:33471991 PMID:35464868 PMID:35736817 PMID:36329109 PMID:36451132 PMID:12065746 More...
RGD:734658
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Brip1
BRCA1 interacting helicase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
CTD ClinVar
PMID:2455662 PMID:3375802 PMID:11301010 PMID:14983014 PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 PMID:18628483 PMID:18978354 PMID:19127258 PMID:19763819 PMID:20159562 PMID:20173781 PMID:20177395 PMID:20639400 PMID:21165771 PMID:21345144 PMID:21964575 PMID:22006311 PMID:22792074 PMID:24240112 PMID:24556621 PMID:25741868 PMID:25980754 PMID:26315354 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:26921362 PMID:26968956 PMID:27179029 PMID:28492532 PMID:29368626 PMID:31300551 PMID:32068069 PMID:32359370 PMID:32658311 PMID:32885271 PMID:33471991 PMID:34026625 PMID:34585738 PMID:36988593 More...
NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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Brk1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:17436244 PMID:28492532
NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
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C6h14orf28
similar to human chromosome 14 open reading frame 28
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532 PMID:29895858 PMID:30075111
NCBI chr 6:82,965,304...82,973,942
Ensembl chr 6:82,965,328...82,972,558
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Car5a
carbonic anhydrase 5A
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
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Car5b
carbonic anhydrase 5B
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,474,697...30,534,797
Ensembl chr X:30,474,784...30,533,837
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Cbfa2t3
CBFA2/RUNX1 partner transcriptional co-repressor 3
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610
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Cdh15
cadherin 15
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
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Cdk10
cyclin-dependent kinase 10
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:11091222 PMID:28492532 PMID:29098742
NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
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Cdt1
chromatin licensing and DNA replication factor 1
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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Chmp1a
charged multivesicular body protein 1A
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
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Cltrn
collectrin, amino acid transport regulator
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,361,967...30,395,264
Ensembl chr X:30,361,967...30,395,349
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Cpne7
copine 7
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677
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Ctu2
cytosolic thiouridylase subunit 2
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
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Cyba
cytochrome b-245 alpha chain
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Dbndd1
dysbindin domain containing 1
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:19367192 PMID:28492532
NCBI chr19:51,539,154...51,548,441
Ensembl chr19:51,539,148...51,548,444
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Def8
differentially expressed in FDCP 8 homolog
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:19367192 PMID:28492532
NCBI chr19:51,474,783...51,495,638
Ensembl chr19:51,474,878...51,495,638
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Dpep1
dipeptidase 1
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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Fanca
FA complementation group A
disease_progression
ISO
DNA:missense mutations, splice-site mutations:exon, intron:multiple ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia CTD Direct Evidence: marker/mechanism DNA:deletions, transitions:exon, intron:multiple
ClinVar CTD RGD
PMID:1792455 PMID:1927896 PMID:2472832 PMID:08896563 PMID:9371789 PMID:09371798 PMID:09399890 PMID:9536098 PMID:9711872 PMID:9721219 PMID:9929978 PMID:10090479 PMID:10094191 PMID:10373536 PMID:10521298 PMID:10807541 PMID:10862090 PMID:11050007 PMID:11063725 PMID:11091222 PMID:11344308 PMID:11739169 PMID:12031647 PMID:12444097 PMID:12697994 PMID:12955722 PMID:14695169 PMID:15059067 PMID:15516848 PMID:15522956 PMID:15523645 PMID:15591268 PMID:15609317 PMID:15643609 PMID:16015582 PMID:16084127 PMID:16116422 PMID:16199547 PMID:16397136 PMID:16445838 PMID:16611311 PMID:16720839 PMID:16774934 PMID:16946016 PMID:17327415 PMID:17576681 PMID:17726045 PMID:17924555 PMID:18414213 PMID:19278965 PMID:19367192 PMID:19423727 PMID:19763152 PMID:20301575 PMID:20307669 PMID:21236561 PMID:21273304 PMID:21279724 PMID:21519011 PMID:21520333 PMID:21659346 PMID:22178060 PMID:22406018 PMID:22482891 PMID:22720145 PMID:22778927 PMID:22950077 PMID:23021409 PMID:23067021 PMID:23613520 PMID:23806870 PMID:23898106 PMID:23934222 PMID:23960188 PMID:23973728 PMID:24037726 PMID:24082139 PMID:24123366 PMID:24343878 PMID:24349332 PMID:24584348 PMID:24689079 PMID:24704046 PMID:24728327 PMID:24793135 PMID:24824029 PMID:24989076 PMID:25168418 PMID:25239263 PMID:25288723 PMID:25525159 PMID:25533962 PMID:25583207 PMID:25640679 PMID:25703136 PMID:25741868 PMID:25741905 PMID:25741916 PMID:25751062 PMID:25953249 PMID:26110843 PMID:26136524 PMID:26140431 PMID:26181256 PMID:26201965 PMID:26296701 PMID:26467025 PMID:26492932 PMID:26556299 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26799702 PMID:26841305 PMID:27041517 PMID:27148581 PMID:27153395 PMID:27577878 PMID:27701467 PMID:27733357 PMID:27997549 PMID:28060124 PMID:28102861 PMID:28104920 PMID:28202063 PMID:28215707 PMID:28239445 PMID:28259476 PMID:28492532 PMID:28600779 PMID:28623394 PMID:28678401 PMID:28687356 PMID:28690869 PMID:28717660 PMID:28717661 PMID:28767289 PMID:28864460 PMID:28870985 PMID:28873162 PMID:28973083 PMID:28975465 PMID:29093742 PMID:29098741 PMID:29098742 PMID:29247345 PMID:29269525 PMID:29338072 PMID:29621589 PMID:29625052 PMID:29641532 PMID:29702541 PMID:29753700 PMID:29779353 PMID:29797310 PMID:29904161 PMID:29976742 PMID:30031030 PMID:30032139 PMID:30050716 PMID:30057198 PMID:30086788 PMID:30192042 PMID:30268473 PMID:30306255 PMID:30792206 PMID:30809872 PMID:30836094 PMID:30919572 PMID:31030435 PMID:31102422 PMID:31192125 PMID:31248416 PMID:31259830 PMID:31395037 PMID:31432501 PMID:31558676 PMID:31586946 PMID:31589614 PMID:31613886 PMID:31655866 PMID:31698007 PMID:31721781 PMID:32002546 PMID:32098966 PMID:32107087 PMID:32235514 PMID:32268276 PMID:32487094 PMID:32546565 PMID:32659497 PMID:32659967 PMID:32793304 PMID:32799124 PMID:32850347 PMID:32903519 PMID:32947577 PMID:33020649 PMID:33088445 PMID:33172906 PMID:33224011 PMID:33224012 PMID:33314633 PMID:33332384 PMID:33482836 PMID:33556149 PMID:33558524 PMID:33679882 PMID:33686268 PMID:33718801 PMID:33762291 PMID:33883933 PMID:33960719 PMID:34008892 PMID:34130653 PMID:34173971 PMID:34250406 PMID:34308366 PMID:34422195 PMID:34426522 PMID:34480478 PMID:34512202 PMID:34573280 PMID:34585473 PMID:34598035 PMID:34741701 PMID:34754157 PMID:34864095 PMID:34902740 PMID:34906502 PMID:35314707 PMID:35348533 PMID:35655404 PMID:36463940 PMID:37349538 PMID:15523645 PMID:12827451 PMID:11110674 More...
RGD:11344899 , RGD:11344919 , RGD:11344914
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Fancb
FA complementation group B
ISO
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar
PMID:9536098 PMID:15502827 PMID:16199547 PMID:17576681 PMID:23613520 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32106311 PMID:32410215 PMID:32546565 PMID:33558524 More...
NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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Fancc
FA complementation group C
onset
ISO
DNA:insertion, missense, substitution mutations:cds:c.455_456dupA,c.996G>A, c.1390C>T(p.Q464X)(human) ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia CTD Direct Evidence: marker/mechanism DNA:deletion: :322delG (human)
ClinVar CTD RGD
PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 PMID:08103176 PMID:08128956 PMID:08348157 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8639804 PMID:8703809 PMID:8734810 PMID:8799375 PMID:8829660 PMID:08844212 PMID:08882868 PMID:9207444 PMID:9242535 PMID:9272737 PMID:9398857 PMID:09452030 PMID:9521584 PMID:9536098 PMID:09616183 PMID:10383195 PMID:10666230 PMID:10994546 PMID:11050007 PMID:11110674 PMID:11427142 PMID:11520787 PMID:12093742 PMID:12649160 PMID:12670332 PMID:12750283 PMID:14695169 PMID:14726700 PMID:15277238 PMID:15364573 PMID:15516848 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17909071 PMID:17924555 PMID:19622403 PMID:19714462 PMID:20301575 PMID:20507306 PMID:20509860 PMID:20869034 PMID:21279724 PMID:21520333 PMID:21659346 PMID:22482891 PMID:22701786 PMID:22720145 PMID:22778927 PMID:22995991 PMID:23028338 PMID:23613520 PMID:23634996 PMID:23934222 PMID:24033266 PMID:24469828 PMID:24584348 PMID:24728327 PMID:25168418 PMID:25640679 PMID:25741868 PMID:25801821 PMID:26466335 PMID:26467025 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26778106 PMID:26822237 PMID:26990548 PMID:27133164 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28775315 PMID:28873162 PMID:28878254 PMID:29038235 PMID:29360161 PMID:29439820 PMID:29625052 PMID:29641532 PMID:29643063 PMID:29654263 PMID:29719599 PMID:29753700 PMID:29767408 PMID:29905759 PMID:29922827 PMID:30031030 PMID:30093976 PMID:30256826 PMID:30306255 PMID:30322717 PMID:30541756 PMID:30613976 PMID:30630526 PMID:30676620 PMID:30967997 PMID:31102422 PMID:31133068 PMID:31300551 PMID:31558676 PMID:31589614 PMID:31721781 PMID:31722815 PMID:31784482 PMID:31874108 PMID:32235514 PMID:32427313 PMID:32496904 PMID:32546565 PMID:32566746 PMID:32570879 PMID:32659497 PMID:32885271 PMID:32923857 PMID:33050356 PMID:33083949 PMID:33084842 PMID:33471991 PMID:33563768 PMID:33780288 PMID:34008892 PMID:34106356 PMID:34117267 PMID:34308104 PMID:34308366 PMID:34326862 PMID:34426522 PMID:34445631 PMID:34654685 PMID:34761457 PMID:35264596 PMID:35739269 PMID:36315513 PMID:36474027 PMID:37349538 PMID:16429406 PMID:11110674 More...
RGD:11041907 , RGD:11344914
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
G
Fancd2
FA complementation group D2
ISO
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9536098 PMID:11239453 PMID:14667412 PMID:14695169 PMID:16199547 PMID:16280053 PMID:17096012 PMID:17308347 PMID:17436244 PMID:17576681 PMID:21356188 PMID:22720145 PMID:22828868 PMID:22829014 PMID:23285130 PMID:23613520 PMID:24033266 PMID:24584348 PMID:24728327 PMID:25640679 PMID:25703294 PMID:25741868 PMID:25927356 PMID:26580448 PMID:26633542 PMID:26740942 PMID:27041517 PMID:27153395 PMID:27931139 PMID:28202063 PMID:28386063 PMID:28492532 PMID:28678401 PMID:29625052 PMID:29659569 PMID:30250602 PMID:30256826 PMID:30306255 PMID:30713837 PMID:30716324 PMID:31586946 PMID:32546565 PMID:32659967 PMID:33270637 PMID:33558524 PMID:34327028 PMID:34585473 PMID:36463940 PMID:11239453 PMID:19287902 More...
RGD:1601137 , RGD:11344904
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
G
Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar
PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 PMID:17576681 PMID:23285130 PMID:24728327 PMID:25741868 PMID:25927356 PMID:27041517 PMID:28492532 PMID:29625052 PMID:30250602 PMID:30256826 PMID:31586946 PMID:32546565 PMID:33270637 PMID:34585473 PMID:36463940 More...
NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
G
Fance
FA complementation group E
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:11001585 PMID:17924555 PMID:24728327 PMID:25741868 PMID:28492532 PMID:32546565 PMID:33084842 PMID:33326660 More...
NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631
G
Fancf
FA complementation group F
ISO
ClinVar Annotator: match by term: Fanconi anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar
PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 PMID:16084127 PMID:16774934 PMID:17082180 PMID:17924555 PMID:18271933 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26033879 PMID:27714961 PMID:28102861 PMID:28259476 PMID:28492532 PMID:28678401 PMID:28687356 PMID:29368431 PMID:29625052 PMID:30256826 PMID:30262796 PMID:30680046 PMID:30995915 PMID:31882575 PMID:34117267 More...
NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923
G
Fancg
FA complementation group G
ISO
FANCG, OMIM:602956 ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 PMID:11093276 PMID:11126723 PMID:11438206 PMID:12552564 PMID:12673805 PMID:15657175 PMID:16084127 PMID:16199547 PMID:16621732 PMID:16643430 PMID:17010390 PMID:17576681 PMID:17924555 PMID:19102630 PMID:20301575 PMID:21659346 PMID:22778927 PMID:23067021 PMID:23613520 PMID:24033266 PMID:24136620 PMID:24300640 PMID:24584348 PMID:24728327 PMID:24763404 PMID:24989076 PMID:25703136 PMID:25741868 PMID:26689913 PMID:26740942 PMID:26968956 PMID:27041517 PMID:28024295 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:29154021 PMID:29905759 PMID:30031030 PMID:31558676 PMID:31839986 PMID:32546565 PMID:32947577 PMID:33563768 PMID:33718801 PMID:34422195 PMID:9806548 More...
RGD:1599879
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
G
Fanci
FA complementation group I
ISO
DNA:mutations: :multiple ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia
ClinVar RGD
PMID:9536098 PMID:15477547 PMID:15689359 PMID:16177225 PMID:16199547 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452773 PMID:17460694 PMID:17576681 PMID:17924555 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18546365 PMID:18991199 PMID:19010300 PMID:19737859 PMID:19763152 PMID:20307669 PMID:20691285 PMID:20971953 PMID:21038416 PMID:21228398 PMID:21324748 PMID:22406018 PMID:22720145 PMID:23093618 PMID:23430898 PMID:23613520 PMID:23783014 PMID:24033266 PMID:24989076 PMID:25462018 PMID:25640679 PMID:25741868 PMID:25877891 PMID:25927356 PMID:26104464 PMID:26296701 PMID:26467025 PMID:26590883 PMID:28492532 PMID:28678401 PMID:28875981 PMID:28878254 PMID:29439820 PMID:29625052 PMID:29891941 PMID:30076350 PMID:30303537 PMID:30333958 PMID:30773290 PMID:30792206 PMID:31300551 PMID:31470354 PMID:32054657 PMID:32235514 PMID:32546565 PMID:33461977 PMID:33558524 PMID:34585473 PMID:34601666 PMID:34861889 PMID:36356413 PMID:36513378 PMID:26590883 More...
RGD:11344925
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
G
Fancl
FA complementation group L
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
CTD ClinVar
PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 PMID:22720145 PMID:23613520 PMID:24033266 PMID:24389026 PMID:25239263 PMID:25659033 PMID:25741868 PMID:25754594 PMID:26149689 PMID:26740942 PMID:26822237 PMID:26822949 PMID:27041517 PMID:27153395 PMID:27986371 PMID:28104920 PMID:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29335925 PMID:29416752 PMID:29478780 PMID:29625052 PMID:30306255 PMID:30995915 PMID:31300551 PMID:31513304 PMID:31937788 PMID:31942411 PMID:31980526 PMID:32008151 PMID:32191290 PMID:32235514 PMID:32420600 PMID:32789750 PMID:33727708 PMID:34008892 PMID:34308104 PMID:34647594 PMID:35454841 PMID:36135330 More...
NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
G
Fancm
FA complementation group M
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
CTD ClinVar
PMID:2867840 PMID:9536098 PMID:16116422 PMID:16199547 PMID:17289582 PMID:17576681 PMID:18174376 PMID:18414213 PMID:19379763 PMID:19737859 PMID:19763152 PMID:20307669 PMID:21681190 PMID:22347400 PMID:22406018 PMID:23409019 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25640679 PMID:25741868 PMID:26067930 PMID:26094658 PMID:26130695 PMID:26296701 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26822949 PMID:27626068 PMID:27713038 PMID:27854218 PMID:27913932 PMID:28033443 PMID:28492532 PMID:28591191 PMID:28678401 PMID:28702895 PMID:28715532 PMID:28717660 PMID:28837157 PMID:28837162 PMID:28881617 PMID:28975465 PMID:29217778 PMID:29231814 PMID:29287190 PMID:29351780 PMID:29625052 PMID:29641532 PMID:29760528 PMID:29895858 PMID:30075111 PMID:30426508 PMID:30613976 PMID:30676620 PMID:30927251 PMID:30995915 PMID:31263571 PMID:31428572 PMID:31589614 PMID:31700994 PMID:31921681 PMID:31970404 PMID:31991861 PMID:32054657 PMID:32235514 PMID:32268276 PMID:32338768 PMID:32427313 PMID:32522261 PMID:32566746 PMID:32868804 PMID:32906206 PMID:32994724 PMID:33036707 PMID:33099839 PMID:33118316 PMID:33163394 PMID:33471991 PMID:34117267 PMID:34174131 PMID:34326862 PMID:34598035 PMID:34646395 PMID:35495172 PMID:35877578 PMID:35929646 PMID:36099812 PMID:36315097 PMID:36534659 PMID:37316882 PMID:37673932 More...
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
G
Fkbp3
FKBP prolyl isomerase 3
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532 PMID:29895858 PMID:30075111
NCBI chr 6:83,113,885...83,125,500
Ensembl chr 6:83,113,786...83,127,011
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
G
Fscb
fibrous sheath CABYR binding protein
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532 PMID:29895858 PMID:30075111
NCBI chr 6:82,527,849...82,530,641
G
Galns
galactosamine (N-acetyl)-6-sulfatase
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
G
Gas8
growth arrest specific 8
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:19367192 PMID:28492532
NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305
G
Gstm1
glutathione S-transferase mu 1
disease_progression
ISO
RGD
PMID:16173971
RGD:10450839
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstt1
glutathione S-transferase theta 1
treatment
ISO
RGD
PMID:16173971
RGD:10450839
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
G
Ifng
interferon gamma
ISO
protein:increased expression:plasma
RGD
PMID:24021704
RGD:11049161
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
G
Il10
interleukin 10
ISO
protein:increased expression:plasma
RGD
PMID:24021704
RGD:11049161
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
G
Il17c
interleukin 17C
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169
G
Jph3
junctophilin 3
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
G
Klhdc4
kelch domain containing 4
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868
G
Klhl28
kelch-like family member 28
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532 PMID:29895858 PMID:30075111
NCBI chr 6:82,987,360...83,018,971
Ensembl chr 6:82,990,945...83,016,164
G
Mc1r
melanocortin 1 receptor
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:9721219 PMID:19367192 PMID:28492532 PMID:29098742
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
G
Mospd2
motile sperm domain containing 2
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:29,420,485...29,472,099
Ensembl chr X:29,420,586...29,462,398
G
Mvd
mevalonate diphosphate decarboxylase
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
G
Mx1
MX dynamin like GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9389754
NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
G
Pabpn1l
PABPN1 like
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366
G
Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar
PMID:17200668 PMID:17200671 PMID:17200672 PMID:18302019 PMID:24136930 PMID:25085752 PMID:25099575 PMID:25741868 PMID:26467025 PMID:26564480 PMID:28492532 More...
NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
G
Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
G
Piga
phosphatidylinositol glycan anchor biosynthesis, class A
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
G
Pir
pirin
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,108,536...30,219,269
Ensembl chr X:30,108,538...30,219,218
G
Polg
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar
PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17452773 PMID:17460694 PMID:17950645 PMID:17980715 PMID:18414213 PMID:18546365 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:22720145 PMID:23430898 PMID:23783014 PMID:24033266 PMID:24989076 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:26590883 PMID:28492532 PMID:28678401 More...
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
G
Prf1
perforin 1
ISO
RGD
PMID:21542827
RGD:6482802
NCBI chr20:29,246,202...29,251,712
Ensembl chr20:29,246,202...29,251,701
G
Prpf39
pre-mRNA processing factor 39
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532 PMID:29895858 PMID:30075111
NCBI chr 6:83,088,981...83,113,826
Ensembl chr 6:83,088,986...83,113,825
G
Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:17924555 PMID:23613520 PMID:28492532 PMID:31558676
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
G
Rad51c
RAD51 paralog C
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
CTD ClinVar
PMID:20400963 PMID:20400964 PMID:20697805 PMID:20723205 PMID:21537932 PMID:21750962 PMID:21980511 PMID:21990120 PMID:22167183 PMID:22370629 PMID:22451500 PMID:22476429 PMID:22725699 PMID:23117857 PMID:24082139 PMID:24504028 PMID:25085752 PMID:25086635 PMID:25470109 PMID:25741868 PMID:26057125 PMID:26261251 PMID:26406419 PMID:26467025 PMID:26483394 PMID:26740214 PMID:27153395 PMID:28492532 PMID:32606146 More...
NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
G
Rnf166
ring finger protein 166
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274
G
Rpl13
ribosomal protein L13
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
G
Slc7a5
solute carrier family 7 member 5
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
G
Slx4
SLX4 structure-specific endonuclease subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia
CTD ClinVar
PMID:2291166 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19596235 PMID:19596236 PMID:21240275 PMID:21240276 PMID:21240277 PMID:21805310 PMID:22383991 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:23994477 PMID:24037726 PMID:24733792 PMID:24763404 PMID:25288723 PMID:25326635 PMID:25640679 PMID:25741868 PMID:26201965 PMID:26689913 PMID:26824983 PMID:27153395 PMID:27913932 PMID:28125078 PMID:28202063 PMID:28492532 PMID:28678401 PMID:29146900 PMID:29344583 PMID:29607586 PMID:29641532 PMID:29868112 PMID:29891941 PMID:29915322 PMID:30268473 PMID:30306255 PMID:30613976 PMID:30995915 PMID:31300551 PMID:31469826 PMID:31921681 PMID:32368696 PMID:32546565 PMID:33270637 PMID:33558524 PMID:33606809 PMID:36916425 More...
NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295
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Snai3
snail family transcriptional repressor 3
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
G
Spata2L
spermatogenesis associated 2-like
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:11091222 PMID:28492532 PMID:29098742
NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510
G
Spata33
spermatogenesis associated 33
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:11091222 PMID:28492532 PMID:29098742
NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894
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Spire2
spire-type actin nucleation factor 2
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:9721219 PMID:19367192 PMID:25741868 PMID:28492532 PMID:29098742
NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920
G
Tcf25
transcription factor 25
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:9721219 PMID:19367192 PMID:28492532 PMID:29098742
NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723
G
Tnf
tumor necrosis factor
ISO
protein:increased expression:plasma CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22628295 PMID:8438880 PMID:24021704
RGD:10450524 , RGD:11049161
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Togaram1
TOG array regulator of axonemal microtubules 1
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532 PMID:29895858 PMID:30075111
NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807
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Trappc2l
trafficking protein particle complex subunit 2L
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
G
Tubb3
tubulin, beta 3 class III
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:19367192 PMID:28492532 PMID:29098742
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Usp1
ubiquitin specific peptidase 1
ISS
MouseDO
NCBI chr 5:113,587,564...113,598,934
Ensembl chr 5:113,587,564...113,598,932
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Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 PMID:28492532 More...
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
G
Vegfd
vascular endothelial growth factor D
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,073,122...30,108,413
Ensembl chr X:30,074,163...30,108,295
G
Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:17436244 PMID:28492532
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
G
Vps9d1
VPS9 domain containing 1
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:11091222 PMID:28492532 PMID:29098742
NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634
G
Vrk2
VRK serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:12973351 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 PMID:23613520 PMID:24389026 PMID:25741868 PMID:26149689 PMID:26822237 PMID:26822949 PMID:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:30306255 PMID:31513304 PMID:32235514 PMID:36135330 More...
NCBI chr14:100,313,771...100,434,520
Ensembl chr14:100,313,601...100,434,527
G
Zc3h18
zinc finger CCCH-type containing 18
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
G
Zfp26
zinc finger protein 26
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325
G
Zfp276
zinc finger protein (C2H2 type) 276
ISO
ClinVar Annotator: match by term: Fanconi anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia
ClinVar
PMID:9371798 PMID:9536098 PMID:9721219 PMID:10090479 PMID:10094191 PMID:10521298 PMID:11091222 PMID:12444097 PMID:12697994 PMID:15059067 PMID:15523645 PMID:15643609 PMID:16084127 PMID:16199547 PMID:17327415 PMID:17576681 PMID:17924555 PMID:18414213 PMID:19278965 PMID:19367192 PMID:21273304 PMID:21659346 PMID:22178060 PMID:22778927 PMID:23021409 PMID:23613520 PMID:23960188 PMID:23973728 PMID:24037726 PMID:24584348 PMID:24728327 PMID:24793135 PMID:25640679 PMID:25741868 PMID:26296701 PMID:26467025 PMID:26580448 PMID:26689913 PMID:27041517 PMID:27854218 PMID:28060124 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28623394 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28873162 PMID:29098742 PMID:29779353 PMID:29904161 PMID:30031030 PMID:30032139 PMID:30792206 PMID:30809872 PMID:30919572 PMID:31248416 PMID:31586946 PMID:31613886 PMID:31698007 PMID:32546565 PMID:33172906 PMID:33686268 PMID:33718801 PMID:33960719 PMID:34308366 PMID:34512202 PMID:34585473 PMID:37349538 More...
NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
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Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,282,337...50,324,010
G
Zfpm1
zinc finger protein, multitype 1
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591
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Zrsr2
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2
ISO
ClinVar Annotator: match by term: Fanconi anemia
ClinVar
PMID:28492532
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
G
Aopep
aminopeptidase O
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:08128956 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 PMID:17924555 PMID:22995991 PMID:23028338 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:26740942 PMID:27153395 PMID:28125075 PMID:28492532 PMID:28767289 PMID:28775315 PMID:30541756 PMID:31133068 PMID:32546565 PMID:32566746 PMID:33471991 PMID:34326862 PMID:34426522 PMID:37349538 More...
NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331
G
Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:11157798 PMID:11802209 PMID:12496476 PMID:15235020 PMID:17279547 PMID:17308087 PMID:17574969 PMID:17924331 PMID:19200354 PMID:19563646 PMID:20516115 PMID:21324516 PMID:21356067 PMID:21473589 PMID:21702907 PMID:21965345 PMID:21990134 PMID:22889855 PMID:23289006 PMID:23867111 PMID:24055113 PMID:24569164 PMID:24728189 PMID:24845084 PMID:25472942 PMID:25741868 PMID:26467025 PMID:26689913 PMID:26884819 PMID:27272900 PMID:27478808 PMID:28265380 PMID:28324225 PMID:28477318 PMID:28492532 PMID:28724667 PMID:28831036 PMID:29161300 PMID:29297111 PMID:29348823 PMID:29446198 PMID:29712865 PMID:30103829 PMID:30287823 PMID:30702160 PMID:30825404 PMID:31336956 PMID:31454914 PMID:31472684 PMID:31825140 PMID:32338768 PMID:33098347 PMID:33468216 PMID:33471991 More...
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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Cdk10
cyclin-dependent kinase 10
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
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Chmp1a
charged multivesicular body protein 1A
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
G
Cpne7
copine 7
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677
G
Dmd
dystrophin
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:25741868
NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
G
Dpep1
dipeptidase 1
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
G
Fanca
FA complementation group A
ISO ISS
ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A OMIM:227650
OMIM ClinVar MouseDO
PMID:1792455 PMID:1927896 PMID:2339692 PMID:2472832 PMID:08896563 PMID:08896564 PMID:09371798 PMID:09399890 PMID:9536098 PMID:9711872 PMID:09721219 PMID:9929978 PMID:10090479 PMID:10094191 PMID:10373536 PMID:10521298 PMID:10807541 PMID:10862090 PMID:11050007 PMID:11063725 PMID:11091222 PMID:11344308 PMID:11739169 PMID:12031647 PMID:12444097 PMID:12697994 PMID:12827451 PMID:12955722 PMID:14695169 PMID:15059067 PMID:15516848 PMID:15522956 PMID:15523645 PMID:15591268 PMID:15609317 PMID:15643609 PMID:16084127 PMID:16116422 PMID:16199547 PMID:16397136 PMID:16445838 PMID:16611311 PMID:16720839 PMID:16774934 PMID:16946016 PMID:17327415 PMID:17576681 PMID:17726045 PMID:17924555 PMID:18414213 PMID:19109555 PMID:19139070 PMID:19278965 PMID:19367192 PMID:19423727 PMID:20301575 PMID:20435624 PMID:21273304 PMID:21279724 PMID:21519011 PMID:21520333 PMID:21659346 PMID:22178060 PMID:22720145 PMID:22778927 PMID:22950077 PMID:23021409 PMID:23067021 PMID:23613520 PMID:23806870 PMID:23898106 PMID:23934222 PMID:23960188 PMID:23973728 PMID:24037726 PMID:24082139 PMID:24343878 PMID:24349332 PMID:24584348 PMID:24704046 PMID:24728327 PMID:24793135 PMID:24989076 PMID:25168418 PMID:25239263 PMID:25288723 PMID:25525159 PMID:25533962 PMID:25583207 PMID:25703136 PMID:25741868 PMID:25741905 PMID:25741913 PMID:25741916 PMID:25751062 PMID:25953249 PMID:26136524 PMID:26140431 PMID:26181256 PMID:26201965 PMID:26296701 PMID:26467025 PMID:26492932 PMID:26556299 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26799702 PMID:26841305 PMID:27041517 PMID:27148581 PMID:27153395 PMID:27577878 PMID:27701467 PMID:27997549 PMID:28060124 PMID:28102861 PMID:28104920 PMID:28202063 PMID:28215707 PMID:28239445 PMID:28259476 PMID:28492532 PMID:28600779 PMID:28623394 PMID:28678401 PMID:28687356 PMID:28717660 PMID:28717661 PMID:28767289 PMID:28864460 PMID:28873162 PMID:28973083 PMID:28975465 PMID:29093742 PMID:29098742 PMID:29247345 PMID:29269525 PMID:29338072 PMID:29621589 PMID:29625052 PMID:29641532 PMID:29753700 PMID:29904161 PMID:29976742 PMID:30031030 PMID:30032139 PMID:30057198 PMID:30086788 PMID:30268473 PMID:30306255 PMID:30792206 PMID:30919572 PMID:31030435 PMID:31102422 PMID:31192125 PMID:31259830 PMID:31432501 PMID:31558676 PMID:31586946 PMID:31589614 PMID:31655866 PMID:31698007 PMID:31721781 PMID:32002546 PMID:32107087 PMID:32235514 PMID:32268276 PMID:32487094 PMID:32546565 PMID:32659497 PMID:32659967 PMID:32793304 PMID:32850347 PMID:32947577 PMID:33088445 PMID:33172906 PMID:33224011 PMID:33224012 PMID:33332384 PMID:33482836 PMID:33558524 PMID:33679882 PMID:33686268 PMID:33718801 PMID:33762291 PMID:33883933 PMID:34008892 PMID:34130653 PMID:34173971 PMID:34250406 PMID:34308366 PMID:34422195 PMID:34426522 PMID:34480478 PMID:34512202 PMID:34585473 PMID:34598035 PMID:34741701 PMID:34754157 PMID:34864095 PMID:34902740 PMID:34906502 PMID:35314707 PMID:35348533 PMID:35655404 PMID:36463940 PMID:37349538 More...
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
G
Fancb
FA complementation group B
ISO
ClinVar Annotator: match by term: Fanconi anemia, group A
ClinVar
PMID:25741868 PMID:28492532
NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
G
Fancc
FA complementation group C
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:08128956 PMID:08348157 PMID:08844212 PMID:8882868 PMID:9521584 PMID:09616183 PMID:12670332 PMID:14726700 PMID:15695377 PMID:17924555 PMID:22995991 PMID:23028338 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26467025 PMID:26740942 PMID:27153395 PMID:28125075 PMID:28492532 PMID:28678401 PMID:28767289 PMID:28775315 PMID:30541756 PMID:31133068 PMID:32546565 PMID:32566746 PMID:33471991 PMID:34326862 PMID:34426522 PMID:37349538 More...
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
G
Fancd2
FA complementation group D2
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:24728327 PMID:25168418 PMID:25741868 PMID:25927356 PMID:28492532
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
G
Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:25741868 PMID:25927356 PMID:28492532
NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
G
Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
G
Fanci
FA complementation group I
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
G
Fancl
FA complementation group L
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:9536098 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 PMID:25741868 PMID:26822237 PMID:26822949 PMID:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:30306255 PMID:32235514 PMID:36135330 More...
NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
G
Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:17289582 PMID:18174376 PMID:19379763 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25741868 PMID:26467025 PMID:26822949 PMID:28033443 PMID:28492532 PMID:28837162 PMID:28881617 PMID:29231814 PMID:29351780 PMID:30075111 PMID:30426508 PMID:31263571 PMID:31589614 PMID:31700994 PMID:32054657 PMID:32338768 PMID:33099839 PMID:33471991 PMID:34117267 PMID:36099812 More...
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
G
Slx4
SLX4 structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A
ClinVar
PMID:21240277 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:25741868 PMID:26201965 PMID:28202063 PMID:28492532 PMID:30613976 PMID:32546565 PMID:33606809 More...
NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295
G
Spata2L
spermatogenesis associated 2-like
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510
G
Spata33
spermatogenesis associated 33
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894
G
Vps9d1
VPS9 domain containing 1
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:23613520
NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634
G
Vrk2
VRK serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 PMID:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:30306255 PMID:32235514 PMID:36135330 More...
NCBI chr14:100,313,771...100,434,520
Ensembl chr14:100,313,601...100,434,527
G
Zfp276
zinc finger protein (C2H2 type) 276
ISO
ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:9371798 PMID:09399890 PMID:9536098 PMID:09721219 PMID:10090479 PMID:10094191 PMID:10521298 PMID:11091222 PMID:12444097 PMID:12955722 PMID:15059067 PMID:15522956 PMID:15523645 PMID:15643609 PMID:16084127 PMID:16199547 PMID:17327415 PMID:17576681 PMID:17924555 PMID:18414213 PMID:19109555 PMID:19139070 PMID:19278965 PMID:19367192 PMID:21273304 PMID:21659346 PMID:22178060 PMID:22778927 PMID:23021409 PMID:23613520 PMID:23960188 PMID:23973728 PMID:24037726 PMID:24584348 PMID:24728327 PMID:24793135 PMID:25168418 PMID:25741868 PMID:26296701 PMID:26467025 PMID:26580448 PMID:26689913 PMID:27041517 PMID:28060124 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28623394 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28864460 PMID:28873162 PMID:29098742 PMID:29904161 PMID:30031030 PMID:30032139 PMID:30792206 PMID:30919572 PMID:31586946 PMID:31698007 PMID:32546565 PMID:33172906 PMID:33686268 PMID:33718801 PMID:34308366 PMID:34512202 PMID:34585473 More...
NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
G
Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group A
ClinVar
PMID:25168418
NCBI chr19:50,282,337...50,324,010
G
Fancb
FA complementation group B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: FANCONI PANCYTOPENIA, TYPE 2 | ClinVar Annotator: match by term: Fanconi anemia complementation group B
OMIM CTD ClinVar
PMID:8368240 PMID:15502827 PMID:16679491 PMID:17924555 PMID:21910217 PMID:23613520 PMID:24033266 PMID:25168418 PMID:25741868 PMID:28492532 PMID:32106311 PMID:32546565 More...
NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
G
Aopep
aminopeptidase O
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group C
ClinVar
PMID:1574115 PMID:1641028 PMID:7689011 PMID:08103176 PMID:08128956 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8703809 PMID:8829660 PMID:08844212 PMID:08882868 PMID:9207444 PMID:9242535 PMID:9272737 PMID:9398857 PMID:9521584 PMID:9536098 PMID:09616183 PMID:10383195 PMID:10431244 PMID:11050007 PMID:12093742 PMID:12649160 PMID:12670332 PMID:12750283 PMID:14695169 PMID:15277238 PMID:15364573 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17924555 PMID:19278965 PMID:19714462 PMID:20301575 PMID:20509860 PMID:20869034 PMID:21279724 PMID:21520333 PMID:21659346 PMID:22720145 PMID:22778927 PMID:22995991 PMID:23028338 PMID:23613520 PMID:23634996 PMID:24033266 PMID:24469828 PMID:24584348 PMID:24728327 PMID:25741868 PMID:26466335 PMID:26467025 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26822237 PMID:26990548 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28775315 PMID:28878254 PMID:29654263 PMID:29753700 PMID:29922827 PMID:30031030 PMID:30322717 PMID:30541756 PMID:30630526 PMID:30967997 PMID:31102422 PMID:31133068 PMID:31589614 PMID:31721781 PMID:31784482 PMID:31874108 PMID:32427313 PMID:32496904 PMID:32546565 PMID:32659497 PMID:32885271 PMID:32923857 PMID:33050356 PMID:33084842 PMID:33471991 PMID:33780288 PMID:34106356 PMID:34117267 PMID:34308104 PMID:34326862 PMID:34426522 PMID:34445631 PMID:34654685 PMID:35264596 PMID:35739269 PMID:36315513 PMID:36474027 PMID:37349538 More...
NCBI chr17:1,811,281...2,127,316
Ensembl chr17:1,811,980...2,127,331
G
Dclre1b
DNA cross-link repair 1B
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group C
ClinVar
PMID:25741868
NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
G
Fancc
FA complementation group C
ISO ISS
ClinVar Annotator: match by term: Fanconi anemia complementation group C OMIM:227645
OMIM ClinVar MouseDO
PMID:1574115 PMID:1641028 PMID:7492758 PMID:7689011 PMID:8081385 PMID:08103176 PMID:08128956 PMID:08348157 PMID:8499901 PMID:8613549 PMID:8621788 PMID:8639804 PMID:8703809 PMID:8734810 PMID:8799375 PMID:8829660 PMID:08844212 PMID:08882868 PMID:9207444 PMID:9242535 PMID:9272737 PMID:9398857 PMID:09452030 PMID:9521584 PMID:9536098 PMID:09616183 PMID:10383195 PMID:10431244 PMID:10666230 PMID:10994546 PMID:11050007 PMID:11110674 PMID:11427142 PMID:11520787 PMID:12093742 PMID:12649160 PMID:12670332 PMID:12750283 PMID:14695169 PMID:14726700 PMID:15277238 PMID:15364573 PMID:15516848 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17909071 PMID:17924555 PMID:19278965 PMID:19622403 PMID:19714462 PMID:20301575 PMID:20507306 PMID:20509860 PMID:20869034 PMID:21279724 PMID:21520333 PMID:21659346 PMID:22701786 PMID:22720145 PMID:22778927 PMID:22995991 PMID:23028338 PMID:23613520 PMID:23634996 PMID:23934222 PMID:24033266 PMID:24469828 PMID:24584348 PMID:24728327 PMID:25168418 PMID:25741868 PMID:25801821 PMID:26466335 PMID:26467025 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26740942 PMID:26778106 PMID:26822237 PMID:26990548 PMID:27133164 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28775315 PMID:28873162 PMID:28878254 PMID:29038235 PMID:29360161 PMID:29439820 PMID:29625052 PMID:29641532 PMID:29643063 PMID:29654263 PMID:29719599 PMID:29753700 PMID:29767408 PMID:29922827 PMID:30031030 PMID:30256826 PMID:30306255 PMID:30322717 PMID:30541756 PMID:30630526 PMID:30676620 PMID:30967997 PMID:31102422 PMID:31133068 PMID:31300551 PMID:31558676 PMID:31589614 PMID:31721781 PMID:31722815 PMID:31784482 PMID:31874108 PMID:32235514 PMID:32427313 PMID:32496904 PMID:32546565 PMID:32570879 PMID:32659497 PMID:32885271 PMID:32923857 PMID:33050356 PMID:33083949 PMID:33084842 PMID:33471991 PMID:33563768 PMID:33780288 PMID:34008892 PMID:34106356 PMID:34117267 PMID:34308104 PMID:34308366 PMID:34326862 PMID:34426522 PMID:34445631 PMID:34654685 PMID:34761457 PMID:34958143 PMID:35264596 PMID:35739269 PMID:36315513 PMID:36474027 PMID:37349538 More...
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
G
Brca2
BRCA2, DNA repair associated
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia complementation group D1 OMIM:605724
CTD ClinVar OMIM MouseDO
PMID:1234 PMID:184056 PMID:251866 PMID:278235 PMID:668580 PMID:1446381 PMID:1843150 PMID:1990134 PMID:2200631 PMID:2661312 PMID:2928257 PMID:3108138 PMID:4055113 PMID:7924331 PMID:8075631 PMID:8415037 PMID:8524414 PMID:8589730 PMID:8665505 PMID:8673090 PMID:8673091 PMID:8673092 PMID:8705994 PMID:8758903 PMID:8840963 PMID:8841191 PMID:8841192 PMID:8896551 PMID:8898735 PMID:8988179 PMID:9042907 PMID:9042909 PMID:9126734 PMID:9145676 PMID:9150150 PMID:9150152 PMID:9150153 PMID:9150154 PMID:9150172 PMID:9150174 PMID:9536098 PMID:9585613 PMID:9667259 PMID:9758598 PMID:9761393 PMID:9771877 PMID:9792861 PMID:9840533 PMID:9971877 PMID:10188893 PMID:10399947 PMID:10417300 PMID:10433620 PMID:10449599 PMID:10453741 PMID:10464609 PMID:10464624 PMID:10486320 PMID:10498392 PMID:10551859 PMID:10570174 PMID:10638982 PMID:10644434 PMID:10660329 PMID:10682686 PMID:10699917 PMID:10717622 PMID:10728701 PMID:10733239 PMID:10739756 PMID:10755399 PMID:10790213 PMID:10800284 PMID:10874312 PMID:10882858 PMID:10923033 PMID:10978364 PMID:11030417 PMID:11030418 PMID:11062481 PMID:11106241 PMID:11149425 PMID:11158174 PMID:11170890 PMID:11179017 PMID:11185744 PMID:11207042 PMID:11241844 PMID:11307153 PMID:11389159 PMID:11400546 PMID:11447276 PMID:11466700 PMID:11504767 PMID:11556836 PMID:11595708 PMID:11597388 PMID:11698567 PMID:11754111 PMID:11802209 PMID:11843247 PMID:11857748 PMID:11873550 PMID:11896095 PMID:11897832 PMID:11920621 PMID:11927503 PMID:11929857 PMID:11938448 PMID:11948123 PMID:11950811 PMID:12048272 PMID:12065746 PMID:12097290 PMID:12100744 PMID:12142080 PMID:12161607 PMID:12181777 PMID:12203997 PMID:12215251 PMID:12228710 PMID:12237285 PMID:12373604 PMID:12402332 PMID:12442171 PMID:12442265 PMID:12442274 PMID:12473589 PMID:12474142 PMID:12491487 PMID:12491499 PMID:12552570 PMID:12556369 PMID:12624724 PMID:12655567 PMID:12670525 PMID:12684407 PMID:12750298 PMID:12754708 PMID:12759930 PMID:12815053 PMID:12845657 PMID:12920083 PMID:12942367 PMID:12955716 PMID:12955719 PMID:12960223 PMID:14517958 PMID:14555511 PMID:14559878 PMID:14576434 PMID:14647210 PMID:14647438 PMID:14670928 PMID:14732925 PMID:14973102 PMID:15004464 PMID:15024741 PMID:15026808 PMID:15070707 PMID:15115758 PMID:15117986 PMID:15131399 PMID:15146557 PMID:15168169 PMID:15172753 PMID:15235023 PMID:15290653 PMID:15317758 PMID:15365993 PMID:15382066 PMID:15533909 PMID:15617999 PMID:15635067 PMID:15645491 PMID:15689453 PMID:15695382 PMID:15728167 PMID:15744044 PMID:15799620 PMID:15800311 PMID:15800615 PMID:15806175 PMID:15876480 PMID:15887246 PMID:15918047 PMID:15955690 PMID:15983021 PMID:15994883 PMID:16030099 PMID:16047333 PMID:16115142 PMID:16168118 PMID:16168123 PMID:16199547 PMID:16211554 PMID:16234499 PMID:16261408 PMID:16284991 PMID:16389418 PMID:16455195 PMID:16489001 PMID:16528604 PMID:16550498 PMID:16683254 PMID:16741161 PMID:16758124 PMID:16760289 PMID:16792514 PMID:16825431 PMID:16826315 PMID:16847550 PMID:16905680 PMID:16912212 PMID:16920162 PMID:16931905 PMID:16949048 PMID:16978908 PMID:17011978 PMID:17026620 PMID:17063265 PMID:17063270 PMID:17087817 PMID:17100994 PMID:17148771 PMID:17233897 PMID:17250666 PMID:17257844 PMID:17262179 PMID:17289875 PMID:17301269 PMID:17308087 PMID:17333343 PMID:17341484 PMID:17419707 PMID:17453335 PMID:17513806 PMID:17515903 PMID:17574839 PMID:17576681 PMID:17591843 PMID:17591940 PMID:17592676 PMID:17636422 PMID:17657584 PMID:17688236 PMID:17724471 PMID:17767707 PMID:17851763 PMID:17899372 PMID:17924331 PMID:17925560 PMID:17971607 PMID:17972177 PMID:17997147 PMID:18006916 PMID:18042939 PMID:18092194 PMID:18182994 PMID:18284688 PMID:18375895 PMID:18393245 PMID:18403564 PMID:18418466 PMID:18424508 PMID:18431501 PMID:18446624 PMID:18451181 PMID:18465347 PMID:18489799 PMID:18497862 PMID:18547621 PMID:18559594 PMID:18593900 PMID:18607349 PMID:18627636 PMID:18627637 PMID:18693280 PMID:18694767 PMID:18703817 PMID:18704680 PMID:18724707 PMID:18752448 PMID:18779604 PMID:18819001 PMID:18821011 PMID:18824701 PMID:18844490 PMID:18951449 PMID:18951461 PMID:19016756 PMID:19030985 PMID:19043619 PMID:19052777 PMID:19188187 PMID:19200354 PMID:19229607 PMID:19241424 PMID:19320659 PMID:19353265 PMID:19471317 PMID:19473207 PMID:19491284 PMID:19530235 PMID:19540122 PMID:19574032 PMID:19619314 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19656415 PMID:19747923 PMID:19795481 PMID:19796187 PMID:19799798 PMID:19861517 PMID:19863560 PMID:19912264 PMID:19941162 PMID:19941167 PMID:19967274 PMID:20020529 PMID:20033483 PMID:20041885 PMID:20054658 PMID:20104584 PMID:20127978 PMID:20135345 PMID:20167696 PMID:20195775 PMID:20215541 PMID:20216074 PMID:20301425 PMID:20373018 PMID:20380699 PMID:20383589 PMID:20406929 PMID:20589654 PMID:20608899 PMID:20614180 PMID:20616022 PMID:20683152 PMID:20694749 PMID:20736950 PMID:20807450 PMID:20858050 PMID:20887823 PMID:20927582 PMID:20960228 PMID:21063910 PMID:21120943 PMID:21147080 PMID:21156238 PMID:21203900 PMID:21204799 PMID:21205087 PMID:21218378 PMID:21232165 PMID:21233401 PMID:21279724 PMID:21285146 PMID:21318380 PMID:21324516 PMID:21356067 PMID:21394826 PMID:21465317 PMID:21497495 PMID:21520273 PMID:21520333 PMID:21523855 PMID:21548014 PMID:21559243 PMID:21598239 PMID:21638052 PMID:21643751 PMID:21671020 PMID:21673748 PMID:21702907 PMID:21709188 PMID:21719596 PMID:21769658 PMID:21789034 PMID:21913181 PMID:21918853 PMID:21939546 PMID:21952622 PMID:21965345 PMID:21990134 PMID:21990165 PMID:22006311 PMID:22009639 PMID:22034289 PMID:22085629 PMID:22109874 PMID:22126563 PMID:22144684 PMID:22160602 PMID:22217648 PMID:22228431 PMID:22366370 PMID:22399190 PMID:22425665 PMID:22426013 PMID:22430266 PMID:22460208 PMID:22476429 PMID:22486713 PMID:22505045 PMID:22527104 PMID:22535016 PMID:22632462 PMID:22638694 PMID:22655046 PMID:22666503 PMID:22678057 PMID:22682623 PMID:22684231 PMID:22703879 PMID:22711857 PMID:22713736 PMID:22720145 PMID:22729890 PMID:22752604 PMID:22753899 PMID:22762150 PMID:22798144 PMID:22811390 PMID:22848303 PMID:22863191 PMID:22866093 PMID:22874498 PMID:22875147 PMID:22913592 PMID:22921157 PMID:22921312 PMID:22923021 PMID:22962691 PMID:22970155 PMID:22977638 PMID:22995991 PMID:23028338 PMID:23035815 PMID:23071527 PMID:23096105 PMID:23096355 PMID:23108138 PMID:23110154 PMID:23146383 PMID:23199084 PMID:23231788 PMID:23233716 PMID:23249957 PMID:23318356 PMID:23320992 PMID:23328489 PMID:23341105 PMID:23415752 PMID:23451180 PMID:23469205 PMID:23479189 PMID:23531862 PMID:23535729 PMID:23555315 PMID:23569316 PMID:23613520 PMID:23621881 PMID:23633455 PMID:23635950 PMID:23658460 PMID:23683081 PMID:23704879 PMID:23704984 PMID:23725378 PMID:23729402 PMID:23747895 PMID:23767878 PMID:23884708 PMID:23885733 PMID:23893897 PMID:23929434 PMID:23940062 PMID:23942203 PMID:23960188 PMID:23961350 PMID:23977390 PMID:23983145 PMID:24013206 PMID:24033266 PMID:24052750 PMID:24055113 PMID:24065114 PMID:24082139 PMID:24094589 PMID:24123850 PMID:24141157 PMID:24156927 PMID:24212087 PMID:24249303 PMID:24301060 PMID:24312913 PMID:24323938 PMID:24333842 PMID:24337145 PMID:24348212 PMID:24372583 PMID:24395671 PMID:24448499 PMID:24489791 PMID:24504028 PMID:24528374 PMID:24549055 PMID:24556621 PMID:24578176 PMID:24607278 PMID:24618965 PMID:24728189 PMID:24728327 PMID:24737347 PMID:24814045 PMID:24817641 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25007954 PMID:25066507 PMID:25072261 PMID:25085752 PMID:25103822 PMID:25136594 PMID:25146914 PMID:25186627 PMID:25203624 PMID:25233892 PMID:25236687 PMID:25256924 PMID:25274553 PMID:25330149 PMID:25348012 PMID:25371446 PMID:25382762 PMID:25395318 PMID:25428789 PMID:25447315 PMID:25452441 PMID:25476495 PMID:25479140 PMID:25480878 PMID:25525159 PMID:25556971 PMID:25569433 PMID:25637381 PMID:25682074 PMID:25685387 PMID:25737278 PMID:25741868 PMID:25777348 PMID:25782689 PMID:25801821 PMID:25802882 PMID:25863477 PMID:25884701 PMID:25896959 PMID:25948282 PMID:25980754 PMID:26022348 PMID:26026974 PMID:26046366 PMID:26064523 PMID:26067864 PMID:26155992 PMID:26183948 PMID:26187060 PMID:26207792 PMID:26250392 PMID:26287763 PMID:26295337 PMID:26296701 PMID:26306726 PMID:26315209 PMID:26317927 PMID:26332594 PMID:26360800 PMID:26425718 PMID:26436112 PMID:26439132 PMID:26440929 PMID:26455428 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26541979 PMID:26543556 PMID:26556299 PMID:26576347 PMID:26577449 PMID:26580448 PMID:26586665 PMID:26657402 PMID:26681312 PMID:26681682 PMID:26689913 PMID:26692440 PMID:26709275 PMID:26724258 PMID:26733283 PMID:26740091 PMID:26740942 PMID:26757417 PMID:26757435 PMID:26761715 PMID:26780556 PMID:26786923 PMID:26787237 PMID:26834852 PMID:26845104 PMID:26846091 PMID:26848529 PMID:26852015 PMID:26867194 PMID:26898890 PMID:26915939 PMID:26920070 PMID:26933808 PMID:26968956 PMID:27000661 PMID:27060066 PMID:27062684 PMID:27124784 PMID:27153395 PMID:27157322 PMID:27165126 PMID:27208206 PMID:27257965 PMID:27271530 PMID:27273131 PMID:27376475 PMID:27383479 PMID:27393621 PMID:27425403 PMID:27433846 PMID:27469594 PMID:27495310 PMID:27498913 PMID:27516001 PMID:27535533 PMID:27553368 PMID:27616075 PMID:27628236 PMID:27633797 PMID:27658390 PMID:27701467 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:27836010 PMID:27878467 PMID:27907908 PMID:27914478 PMID:27989354 PMID:28008555 PMID:28039656 PMID:28111427 PMID:28132688 PMID:28135145 PMID:28152038 PMID:28176296 PMID:28179634 PMID:28195393 PMID:28222693 PMID:28231738 PMID:28243543 PMID:28263838 PMID:28281021 PMID:28283652 PMID:28288110 PMID:28294317 PMID:28301460 PMID:28324225 PMID:28338653 PMID:28339459 PMID:28346442 PMID:28349240 PMID:28364669 PMID:28422718 PMID:28435519 PMID:28439188 PMID:28477318 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28528518 PMID:28541631 PMID:28616458 PMID:28640387 PMID:28651617 PMID:28657667 PMID:28664449 PMID:28664506 PMID:28678401 PMID:28680148 PMID:28687971 PMID:28692638 PMID:28715532 PMID:28724667 PMID:28726806 PMID:28726808 PMID:28767289 PMID:28807866 PMID:28814288 PMID:28825054 PMID:28831036 PMID:28843361 PMID:28873162 PMID:28905878 PMID:28915716 PMID:28918466 PMID:28944232 PMID:28961279 PMID:28973083 PMID:28975465 PMID:28993434 PMID:29021639 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29126202 PMID:29161300 PMID:29176636 PMID:29192238 PMID:29215753 PMID:29236234 PMID:29240602 PMID:29302806 PMID:29310832 PMID:29321669 PMID:29325860 PMID:29335924 PMID:29335925 PMID:29339979 PMID:29346284 PMID:29348823 PMID:29360161 PMID:29360550 PMID:29368341 PMID:29371908 PMID:29383094 PMID:29394989 PMID:29416040 PMID:29433453 PMID:29435039 PMID:29439820 PMID:29446198 PMID:29470806 PMID:29483665 PMID:29489754 PMID:29492181 PMID:29506128 PMID:29560538 PMID:29566657 PMID:29580235 PMID:29625052 PMID:29641532 PMID:29642553 PMID:29667044 PMID:29681614 PMID:29731985 PMID:29750258 PMID:29752822 PMID:29753700 PMID:29758562 PMID:29766361 PMID:29790872 PMID:29802286 PMID:29854292 PMID:29860059 PMID:29884136 PMID:29884841 PMID:29907814 PMID:29915322 PMID:29922827 PMID:29937315 PMID:29961768 PMID:29978187 PMID:29988080 PMID:30014164 PMID:30040829 PMID:30055349 PMID:30078507 PMID:30093976 PMID:30113427 PMID:30122538 PMID:30128899 PMID:30152102 PMID:30186769 PMID:30192042 PMID:30199306 PMID:30203341 PMID:30207912 PMID:30212499 PMID:30217213 PMID:30254663 PMID:30257646 PMID:30274973 PMID:30286154 PMID:30287823 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30400234 PMID:30415210 PMID:30472649 PMID:30489631 PMID:30541756 PMID:30548481 PMID:30555256 PMID:30606148 PMID:30611917 PMID:30612635 PMID:30613976 PMID:30620386 PMID:30623411 PMID:30630528 PMID:30652428 PMID:30696104 PMID:30702160 PMID:30715675 PMID:30716324 PMID:30720243 PMID:30720863 PMID:30742731 PMID:30787465 PMID:30792206 PMID:30825404 PMID:30875412 PMID:30877237 PMID:30883245 PMID:30883759 PMID:30972954 PMID:30982232 PMID:31090900 PMID:31112341 PMID:31112363 PMID:31131559 PMID:31131967 PMID:31143303 PMID:31143373 PMID:31159747 PMID:31191615 PMID:31209999 PMID:31214711 PMID:31248605 PMID:31263054 PMID:31263500 PMID:31263571 PMID:31294896 PMID:31325073 PMID:31331294 PMID:31336956 PMID:31343793 PMID:31360904 PMID:31372034 PMID:31396961 PMID:31409081 PMID:31411802 PMID:31422574 PMID:31432501 PMID:31444830 PMID:31447099 PMID:31451522 PMID:31454914 PMID:31464824 PMID:31558676 PMID:31569370 PMID:31589614 PMID:31642931 PMID:31666926 PMID:31721781 PMID:31742824 PMID:31782247 PMID:31794323 PMID:31825140 PMID:31837001 PMID:31843900 PMID:31853058 PMID:31869745 PMID:31871109 PMID:31874108 PMID:31887429 PMID:31892343 PMID:31911673 PMID:31921681 PMID:31924417 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32022259 PMID:32029870 PMID:32039725 PMID:32046981 PMID:32058061 PMID:32068069 PMID:32091409 PMID:32098980 PMID:32101877 PMID:32123317 PMID:32132887 PMID:32164353 PMID:32256484 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32354836 PMID:32365798 PMID:32375709 PMID:32380732 PMID:32393398 PMID:32398771 PMID:32426482 PMID:32427313 PMID:32438681 PMID:32444794 PMID:32455662 PMID:32467295 PMID:32486089 PMID:32532514 PMID:32571290 PMID:32606146 PMID:32658311 PMID:32659497 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32778078 PMID:32806537 PMID:32824581 PMID:32846166 PMID:32850417 PMID:32853339 PMID:32854451 PMID:32862574 PMID:32866190 PMID:32875559 PMID:32885271 PMID:32906206 PMID:32918181 PMID:32923906 PMID:32957395 PMID:32984025 PMID:33008098 PMID:33054725 PMID:33067490 PMID:33077847 PMID:33078592 PMID:33084842 PMID:33087929 PMID:33113089 PMID:33287145 PMID:33293522 PMID:33302456 PMID:33309985 PMID:33314489 PMID:33372952 PMID:33461977 PMID:33471991 PMID:33478551 PMID:33526602 PMID:33552952 PMID:33558524 PMID:33606809 PMID:33608381 PMID:33609447 PMID:33629534 PMID:33643918 PMID:33670479 PMID:33731496 PMID:33773534 PMID:33773808 PMID:33801055 PMID:33868589 PMID:33891299 PMID:33918338 PMID:33964450 PMID:33970096 PMID:33978741 PMID:34008015 PMID:34022715 PMID:34072659 PMID:34097676 PMID:34101484 PMID:34178674 PMID:34196900 PMID:34218100 PMID:34250417 PMID:34284872 PMID:34298626 PMID:34308104 PMID:34308366 PMID:34309133 PMID:34316023 PMID:34326862 PMID:34399810 PMID:34413315 PMID:34500047 PMID:34503154 PMID:34567246 PMID:34572941 PMID:34597585 PMID:34645131 PMID:34657357 PMID:34657373 PMID:34660253 PMID:34687993 PMID:34697207 PMID:34741701 PMID:35205313 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35365640 PMID:35451682 PMID:35464868 PMID:35535697 PMID:35641994 PMID:35714671 PMID:35736817 PMID:35753294 PMID:35864222 PMID:35918668 PMID:35949895 PMID:35979650 PMID:36119527 PMID:36140756 PMID:36169650 PMID:36232564 PMID:36292577 PMID:36315513 PMID:36329109 PMID:36370215 PMID:36451132 PMID:36474027 PMID:36721989 PMID:36988593 PMID:36998040 PMID:37344829 PMID:37349538 PMID:37461096 PMID:37644014 PMID:38417439 More...
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
G
Fancd2
FA complementation group D2
ISO ISS
ClinVar Annotator: match by term: Fanconi anemia complementation group D2 OMIM:227646
OMIM ClinVar MouseDO
PMID:9536098 PMID:11239453 PMID:16199547 PMID:16280053 PMID:17308347 PMID:17436244 PMID:17576681 PMID:21356188 PMID:22720145 PMID:22828868 PMID:23285130 PMID:23613520 PMID:24033266 PMID:24728327 PMID:25168418 PMID:25703294 PMID:25741868 PMID:25927356 PMID:26580448 PMID:26633542 PMID:27041517 PMID:27931139 PMID:28202063 PMID:28386063 PMID:28492532 PMID:28678401 PMID:29625052 PMID:29659569 PMID:30256826 PMID:30306255 PMID:30716324 PMID:31586946 PMID:32546565 PMID:32581362 PMID:32659967 PMID:32867815 PMID:33558524 PMID:34327028 PMID:34585473 PMID:36463940 More...
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
G
Fancd2os
FANCD2 opposite strand
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group D2
ClinVar
PMID:11239453 PMID:16199547 PMID:16280053 PMID:17436244 PMID:23285130 PMID:23613520 PMID:24728327 PMID:25741868 PMID:25927356 PMID:28492532 PMID:29625052 PMID:30256826 PMID:31586946 PMID:32546565 PMID:32581362 PMID:34585473 More...
NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
G
Fance
FA complementation group E
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group E
OMIM ClinVar
PMID:7662964 PMID:9382107 PMID:9536098 PMID:10205272 PMID:11001585 PMID:14695169 PMID:15609317 PMID:16199547 PMID:16774934 PMID:17308347 PMID:17576681 PMID:17924555 PMID:18271933 PMID:21279724 PMID:22778927 PMID:24033266 PMID:24728327 PMID:25058500 PMID:25741868 PMID:26689913 PMID:26822949 PMID:27165003 PMID:27913932 PMID:28492532 PMID:29625052 PMID:30609409 PMID:31102422 PMID:32487094 PMID:32546565 PMID:32947577 PMID:33084842 PMID:33270637 PMID:33326660 PMID:34687117 PMID:35295078 PMID:36463940 More...
NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631
G
Fancf
FA complementation group F
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group F
OMIM ClinVar
PMID:9382107 PMID:10615118 PMID:11063725 PMID:12649160 PMID:15262960 PMID:16084127 PMID:16774934 PMID:17082180 PMID:17924555 PMID:18271933 PMID:22778927 PMID:24033266 PMID:24728327 PMID:25741868 PMID:26033879 PMID:27714961 PMID:28102861 PMID:28259476 PMID:28492532 PMID:28678401 PMID:28687356 PMID:29368431 PMID:29625052 PMID:30256826 PMID:30262796 PMID:30680046 PMID:30995915 PMID:31288759 PMID:31882575 PMID:34117267 More...
NCBI chr 1:101,449,120...101,451,936
Ensembl chr 1:101,450,389...101,451,923
G
Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group G
OMIM ClinVar
PMID:9536098 PMID:09806548 PMID:10567393 PMID:10807541 PMID:10961856 PMID:11093276 PMID:11126723 PMID:11438206 PMID:12552564 PMID:12673805 PMID:15657175 PMID:16084127 PMID:16199547 PMID:16621732 PMID:16643430 PMID:17010390 PMID:17576681 PMID:17924555 PMID:19102630 PMID:20301575 PMID:21659346 PMID:22778927 PMID:23067021 PMID:23613520 PMID:24033266 PMID:24136620 PMID:24300640 PMID:24584348 PMID:24728327 PMID:24763404 PMID:25703136 PMID:25741868 PMID:26689913 PMID:26740942 PMID:26968956 PMID:27041517 PMID:28024295 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:29905759 PMID:30031030 PMID:31558676 PMID:31839986 PMID:32546565 PMID:32947577 PMID:33718801 PMID:34422195 More...
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
G
Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group G
ClinVar
PMID:11438206 PMID:16643430 PMID:24728327 PMID:25741868 PMID:26740942 PMID:28492532 More...
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
G
Fanci
FA complementation group I
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group I CTD Direct Evidence: marker/mechanism DNA:mutations:exon, intron:multiple
OMIM ClinVar CTD RGD
PMID:9536098 PMID:16199547 PMID:17412408 PMID:17452773 PMID:17460694 PMID:17576681 PMID:17924555 PMID:18414213 PMID:18931676 PMID:20971953 PMID:21324748 PMID:22720145 PMID:22778927 PMID:23093618 PMID:23524600 PMID:23613520 PMID:24989076 PMID:25741868 PMID:25877891 PMID:26296701 PMID:26467025 PMID:26590883 PMID:27987238 PMID:28492532 PMID:28678401 PMID:28875981 PMID:28878254 PMID:29439820 PMID:30076350 PMID:30303537 PMID:30333958 PMID:30773290 PMID:30792206 PMID:31300551 PMID:32054657 PMID:32546565 PMID:33461977 PMID:33558524 PMID:34861889 PMID:36356413 PMID:36513378 PMID:17452773 More...
RGD:11344924
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
G
Polg
DNA polymerase gamma, catalytic subunit
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group I
ClinVar
PMID:18414213 PMID:22778927 PMID:23524600 PMID:25741868 PMID:26467025 PMID:27987238 PMID:28492532 PMID:28678401 More...
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
G
Brip1
BRCA1 interacting helicase 1
susceptibility
ISO
DNA:nonsense mutation:cds:p.R798* (human) ClinVar Annotator: match by term: Fanconi anemia complementation group J CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:2455662 PMID:3375802 PMID:9536098 PMID:11301010 PMID:12565990 PMID:12569564 PMID:12872252 PMID:14983014 PMID:15125843 PMID:15285897 PMID:16116421 PMID:16116423 PMID:16116424 PMID:16116426 PMID:16153896 PMID:16199547 PMID:16280053 PMID:16430786 PMID:16973432 PMID:17033622 PMID:17145708 PMID:17342202 PMID:17576681 PMID:17596542 PMID:18414782 PMID:18426915 PMID:18483852 PMID:18510924 PMID:18628483 PMID:18978354 PMID:19099189 PMID:19127258 PMID:19150983 PMID:19197335 PMID:19339519 PMID:19379763 PMID:19442249 PMID:19519404 PMID:19584272 PMID:19763819 PMID:19935797 PMID:20068231 PMID:20159562 PMID:20168331 PMID:20173781 PMID:20639400 PMID:20980836 PMID:21127055 PMID:21165771 PMID:21279724 PMID:21345144 PMID:21356067 PMID:21409391 PMID:21964575 PMID:22006311 PMID:22024395 PMID:22264603 PMID:22287629 PMID:22582397 PMID:22692731 PMID:22792074 PMID:23161009 PMID:23276657 PMID:23555315 PMID:23613520 PMID:23644138 PMID:23935105 PMID:24033266 PMID:24123366 PMID:24240112 PMID:24376576 PMID:24448499 PMID:24487782 PMID:24556621 PMID:24573678 PMID:24584348 PMID:24728327 PMID:24755471 PMID:24763289 PMID:24895130 PMID:25058500 PMID:25186627 PMID:25256751 PMID:25318351 PMID:25330149 PMID:25374583 PMID:25452441 PMID:25503501 PMID:25583461 PMID:25646469 PMID:25722345 PMID:25741868 PMID:25783483 PMID:25807282 PMID:25846551 PMID:25980754 PMID:25981591 PMID:26206375 PMID:26207792 PMID:26264438 PMID:26296696 PMID:26315354 PMID:26416542 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26596371 PMID:26635394 PMID:26659599 PMID:26681312 PMID:26681682 PMID:26689913 PMID:26709662 PMID:26720728 PMID:26757417 PMID:26786923 PMID:26790966 PMID:26822149 PMID:26822949 PMID:26824983 PMID:26845104 PMID:26901136 PMID:26911350 PMID:26921362 PMID:26968956 PMID:26976419 PMID:27074266 PMID:27107905 PMID:27150160 PMID:27153395 PMID:27165003 PMID:27179029 PMID:27193682 PMID:27427815 PMID:27433846 PMID:27443514 PMID:27458550 PMID:27471560 PMID:27498913 PMID:27527004 PMID:27547810 PMID:27553368 PMID:27621404 PMID:27701467 PMID:27978560 PMID:27997549 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28423363 PMID:28452373 PMID:28486781 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28528518 PMID:28678401 PMID:28709830 PMID:28767289 PMID:28796317 PMID:28828701 PMID:28873162 PMID:28888541 PMID:28911102 PMID:28991257 PMID:29263802 PMID:29335925 PMID:29338689 PMID:29360161 PMID:29368626 PMID:29470806 PMID:29478780 PMID:29596542 PMID:29625052 PMID:29636988 PMID:29641532 PMID:29667044 PMID:29752822 PMID:29788478 PMID:29922827 PMID:29929473 PMID:29958926 PMID:29961768 PMID:30086788 PMID:30093976 PMID:30130155 PMID:30154229 PMID:30230034 PMID:30254378 PMID:30256826 PMID:30262796 PMID:30264118 PMID:30267214 PMID:30295334 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30333958 PMID:30374176 PMID:30414346 PMID:30426508 PMID:30441849 PMID:30612635 PMID:30613976 PMID:30651582 PMID:30680046 PMID:30716324 PMID:30728895 PMID:30833958 PMID:30982232 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31214711 PMID:31265121 PMID:31300551 PMID:31325073 PMID:31341520 PMID:31366178 PMID:31422574 PMID:31512090 PMID:31558676 PMID:31586946 PMID:31589614 PMID:31642931 PMID:31666926 PMID:31742824 PMID:31786208 PMID:31794323 PMID:31822495 PMID:31843900 PMID:31844177 PMID:31871109 PMID:31882575 PMID:31980526 PMID:32019284 PMID:32068069 PMID:32091409 PMID:32231423 PMID:32242007 PMID:32255556 PMID:32283892 PMID:32295079 PMID:32359370 PMID:32371905 PMID:32426482 PMID:32427313 PMID:32522261 PMID:32542039 PMID:32566746 PMID:32658311 PMID:32659497 PMID:32830346 PMID:32832836 PMID:32866190 PMID:32885271 PMID:32959997 PMID:32980694 PMID:32986223 PMID:33028645 PMID:33115781 PMID:33120919 PMID:33134171 PMID:33224012 PMID:33309985 PMID:33313162 PMID:33359728 PMID:33471991 PMID:33546375 PMID:33552952 PMID:33619228 PMID:33646313 PMID:33804961 PMID:33840814 PMID:33842585 PMID:33910496 PMID:33980423 PMID:34011307 PMID:34026625 PMID:34072463 PMID:34204722 PMID:34284872 PMID:34326862 PMID:34503154 PMID:34570441 PMID:34585473 PMID:34585738 PMID:34607609 PMID:34646395 PMID:34887416 PMID:35022142 PMID:35118230 PMID:35127508 PMID:35171259 PMID:35186721 PMID:35205822 PMID:35263119 PMID:35264596 PMID:35467778 PMID:35534704 PMID:35734982 PMID:35739278 PMID:35957908 PMID:35986085 PMID:36011273 PMID:36035419 PMID:36243179 PMID:36315513 PMID:36338706 PMID:36627197 PMID:36672847 PMID:36845387 PMID:36896836 PMID:36988593 PMID:37885353 PMID:38298632 PMID:26968956 More...
RGD:11251781
NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
G
Fancl
FA complementation group L
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group L
OMIM ClinVar
PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:17938197 PMID:19111657 PMID:19405097 PMID:21279724 PMID:23613520 PMID:24033266 PMID:24389026 PMID:25239263 PMID:25659033 PMID:25741868 PMID:25754594 PMID:26149689 PMID:26740942 PMID:26822237 PMID:26822949 PMID:27041517 PMID:27153395 PMID:27986371 PMID:28104920 PMID:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29335925 PMID:29416752 PMID:29478780 PMID:29625052 PMID:30306255 PMID:30995915 PMID:31300551 PMID:31513304 PMID:31937788 PMID:31942411 PMID:31980526 PMID:32191290 PMID:32235514 PMID:32420600 PMID:32789750 PMID:33727708 PMID:34008892 PMID:34308104 PMID:35454841 PMID:36135330 More...
NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
G
Vrk2
VRK serine/threonine kinase 2
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group L
ClinVar
PMID:19405097 PMID:21279724 PMID:25741868 PMID:26822237 PMID:26822949 PMID:28125075 PMID:28423363 PMID:28492532 PMID:28678401 PMID:30306255 PMID:32235514 PMID:36135330 More...
NCBI chr14:100,313,771...100,434,520
Ensembl chr14:100,313,601...100,434,527
G
Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Fanconi anemia, complementation group M
ClinVar
PMID:16116422 PMID:19423727 PMID:19737859 PMID:25741868 PMID:28492532 PMID:33471991 More...
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
G
Palb2
partner and localizer of BRCA2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia complementation group N
CTD OMIM ClinVar
PMID:100849 PMID:16793542 PMID:17200668 PMID:17200671 PMID:17200672 PMID:17287723 PMID:17420451 PMID:17924555 PMID:18288683 PMID:18302019 PMID:18446436 PMID:18987736 PMID:19264984 PMID:19333784 PMID:19369211 PMID:19584259 PMID:19609323 PMID:19635604 PMID:19763819 PMID:19763884 PMID:20091115 PMID:20122277 PMID:20180015 PMID:20412113 PMID:20582465 PMID:20589654 PMID:20722467 PMID:20852946 PMID:20858716 PMID:20927582 PMID:21113654 PMID:21165770 PMID:21182766 PMID:21285249 PMID:21356067 PMID:21365267 PMID:21409391 PMID:21618343 PMID:21932393 PMID:22052327 PMID:22241545 PMID:22310028 PMID:22692731 PMID:22995991 PMID:23110154 PMID:23341105 PMID:23448497 PMID:23471749 PMID:23555315 PMID:23561644 PMID:23787919 PMID:23824750 PMID:23935381 PMID:23935836 PMID:23977390 PMID:24033266 PMID:24061862 PMID:24136930 PMID:24141787 PMID:24206657 PMID:24415441 PMID:24448499 PMID:24549055 PMID:24556926 PMID:24728327 PMID:24763289 PMID:24870022 PMID:24949998 PMID:25085752 PMID:25099575 PMID:25117502 PMID:25186627 PMID:25225577 PMID:25330149 PMID:25356972 PMID:25428789 PMID:25447460 PMID:25452441 PMID:25479140 PMID:25503501 PMID:25525159 PMID:25575445 PMID:25583207 PMID:25666743 PMID:25741868 PMID:25794774 PMID:25959805 PMID:25980754 PMID:26023681 PMID:26083025 PMID:26094658 PMID:26270727 PMID:26283626 PMID:26296701 PMID:26315354 PMID:26411315 PMID:26467025 PMID:26485759 PMID:26489409 PMID:26534844 PMID:26564480 PMID:26580448 PMID:26641009 PMID:26649820 PMID:26681312 PMID:26689913 PMID:26692951 PMID:26720728 PMID:26740942 PMID:26786923 PMID:26845104 PMID:26878173 PMID:26898890 PMID:26976419 PMID:26990772 PMID:27038244 PMID:27067391 PMID:27099641 PMID:27106063 PMID:27153395 PMID:27328445 PMID:27356891 PMID:27397723 PMID:27433846 PMID:27449771 PMID:27553368 PMID:27573125 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27624329 PMID:27701467 PMID:27783279 PMID:27798748 PMID:27829436 PMID:27878467 PMID:27930734 PMID:27978560 PMID:28008555 PMID:28051113 PMID:28135048 PMID:28152038 PMID:28158555 PMID:28194609 PMID:28279176 PMID:28281021 PMID:28319063 PMID:28380452 PMID:28423363 PMID:28440294 PMID:28486781 PMID:28492532 PMID:28503720 PMID:28528518 PMID:28580595 PMID:28664506 PMID:28709830 PMID:28724667 PMID:28726808 PMID:28767289 PMID:28779002 PMID:28794409 PMID:28796317 PMID:28825143 PMID:28864920 PMID:28873162 PMID:28944238 PMID:29052111 PMID:29093764 PMID:29190888 PMID:29263802 PMID:29338689 PMID:29360161 PMID:29368341 PMID:29431189 PMID:29470806 PMID:29478780 PMID:29506128 PMID:29522266 PMID:29566657 PMID:29625052 PMID:29667044 PMID:29752822 PMID:29753700 PMID:29785153 PMID:29802286 PMID:29909963 PMID:29915322 PMID:29945567 PMID:29961768 PMID:30067863 PMID:30086788 PMID:30093976 PMID:30113427 PMID:30128536 PMID:30287823 PMID:30303537 PMID:30306255 PMID:30322717 PMID:30337689 PMID:30521987 PMID:30541756 PMID:30638972 PMID:30651582 PMID:30665703 PMID:30680046 PMID:30720863 PMID:30833416 PMID:30883245 PMID:30890586 PMID:30982232 PMID:30995915 PMID:31054147 PMID:31089269 PMID:31090900 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31214711 PMID:31263054 PMID:31263571 PMID:31300551 PMID:31312277 PMID:31422574 PMID:31428572 PMID:31428676 PMID:31446535 PMID:31447099 PMID:31451522 PMID:31467304 PMID:31512090 PMID:31570822 PMID:31575519 PMID:31586400 PMID:31589614 PMID:31619740 PMID:31636395 PMID:31642931 PMID:31721781 PMID:31742824 PMID:31757951 PMID:31768816 PMID:31786208 PMID:31841383 PMID:31843900 PMID:31844177 PMID:31871297 PMID:32012241 PMID:32019277 PMID:32048105 PMID:32068069 PMID:32081490 PMID:32295079 PMID:32338768 PMID:32339256 PMID:32426482 PMID:32427313 PMID:32531196 PMID:32546565 PMID:32554798 PMID:32566746 PMID:32581362 PMID:32658311 PMID:32830346 PMID:32832836 PMID:32853339 PMID:32854451 PMID:32868316 PMID:32885271 PMID:32980694 PMID:32997802 PMID:33169439 PMID:33193564 PMID:33195396 PMID:33309985 PMID:33320972 PMID:33471991 PMID:33512806 PMID:33558524 PMID:33630411 PMID:33674644 PMID:33811135 PMID:33917078 PMID:33964450 PMID:33980423 PMID:34034685 PMID:34113003 PMID:34284872 PMID:34426522 PMID:34439348 PMID:34478935 PMID:34608183 PMID:34687117 PMID:35089076 PMID:35263119 PMID:35264596 PMID:35402282 PMID:35610400 PMID:35626031 PMID:35806449 PMID:36605468 PMID:36988593 PMID:37013556 More...
NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
G
Hsf5
heat shock transcription factor 5
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group O
ClinVar
PMID:28492532
NCBI chr10:72,417,216...72,460,394
Ensembl chr10:72,417,298...72,460,406
G
Mtmr4
myotubularin related protein 4
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group O
ClinVar
PMID:28492532
NCBI chr10:72,393,411...72,416,342
Ensembl chr10:72,392,551...72,416,342
G
Rad51c
RAD51 paralog C
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group O | ClinVar Annotator: match by term: RAD51C-related condition
ClinVar OMIM
PMID:122156 PMID:1241858 PMID:1731253 PMID:2159791 PMID:2927873 PMID:5806449 PMID:9536098 PMID:12442171 PMID:12966089 PMID:14704354 PMID:15126333 PMID:15170666 PMID:15336628 PMID:16199547 PMID:17576681 PMID:18203022 PMID:19763152 PMID:20052722 PMID:20307669 PMID:20400963 PMID:20400964 PMID:20428093 PMID:20697805 PMID:20723205 PMID:20952512 PMID:21447597 PMID:21537932 PMID:21597919 PMID:21616938 PMID:21750962 PMID:21980511 PMID:21990120 PMID:22006311 PMID:22167183 PMID:22370629 PMID:22406018 PMID:22451500 PMID:22476429 PMID:22538716 PMID:22725699 PMID:23117857 PMID:23176254 PMID:23438602 PMID:23500037 PMID:23704328 PMID:24082139 PMID:24139550 PMID:24141787 PMID:24240112 PMID:24315737 PMID:24359560 PMID:24504028 PMID:24549055 PMID:24631219 PMID:24763404 PMID:24800917 PMID:24993905 PMID:24998779 PMID:25085752 PMID:25086635 PMID:25154786 PMID:25186627 PMID:25292178 PMID:25318351 PMID:25338684 PMID:25452441 PMID:25470109 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25833843 PMID:25980754 PMID:26057125 PMID:26261251 PMID:26270727 PMID:26354865 PMID:26406419 PMID:26467025 PMID:26483394 PMID:26534844 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26691941 PMID:26720728 PMID:26740214 PMID:26822949 PMID:26824983 PMID:26845104 PMID:26848151 PMID:26911350 PMID:26976419 PMID:27037238 PMID:27149507 PMID:27149842 PMID:27153395 PMID:27230542 PMID:27328445 PMID:27433846 PMID:27443514 PMID:27498913 PMID:27616075 PMID:27621404 PMID:27622768 PMID:27852271 PMID:27878467 PMID:27908594 PMID:27913932 PMID:27978560 PMID:28123851 PMID:28125075 PMID:28135145 PMID:28152038 PMID:28202063 PMID:28281021 PMID:28492532 PMID:28528518 PMID:28588062 PMID:28678401 PMID:28709830 PMID:28726808 PMID:28767289 PMID:28802053 PMID:28829762 PMID:28864920 PMID:28873162 PMID:28888541 PMID:28905878 PMID:28975465 PMID:29020732 PMID:29053726 PMID:29054568 PMID:29158291 PMID:29255180 PMID:29263802 PMID:29278735 PMID:29360161 PMID:29409816 PMID:29416752 PMID:29458332 PMID:29470806 PMID:29484706 PMID:29522266 PMID:29566657 PMID:29625052 PMID:29641532 PMID:29659569 PMID:29752822 PMID:29758562 PMID:29785153 PMID:29858219 PMID:29922827 PMID:29978187 PMID:30086788 PMID:30093976 PMID:30128536 PMID:30216591 PMID:30256826 PMID:30257646 PMID:30306255 PMID:30309722 PMID:30322717 PMID:30333958 PMID:30374176 PMID:30426508 PMID:30515680 PMID:30551670 PMID:30613976 PMID:30680046 PMID:30847381 PMID:30875412 PMID:30924587 PMID:30927251 PMID:30949688 PMID:30982232 PMID:30995915 PMID:31125277 PMID:31159747 PMID:31173646 PMID:31206626 PMID:31300551 PMID:31422574 PMID:31446535 PMID:31567591 PMID:31642931 PMID:31742824 PMID:31782267 PMID:31815095 PMID:31843900 PMID:31874108 PMID:31882575 PMID:31921681 PMID:32054657 PMID:32068069 PMID:32107557 PMID:32242007 PMID:32295079 PMID:32295625 PMID:32338768 PMID:32359370 PMID:32398771 PMID:32427313 PMID:32566746 PMID:32606146 PMID:32658311 PMID:32659497 PMID:32809180 PMID:32832836 PMID:32854451 PMID:32866190 PMID:32868316 PMID:32885271 PMID:32957588 PMID:32980694 PMID:32986223 PMID:33008098 PMID:33011440 PMID:33047316 PMID:33077847 PMID:33134171 PMID:33194656 PMID:33219106 PMID:33258288 PMID:33277227 PMID:33309985 PMID:33326660 PMID:33333735 PMID:33359728 PMID:33471991 PMID:33552952 PMID:33563768 PMID:33606809 PMID:33646313 PMID:33858678 PMID:34284872 PMID:34299313 PMID:34326862 PMID:34426522 PMID:34570441 PMID:34606182 PMID:34761457 PMID:34923718 PMID:35014770 PMID:35039523 PMID:35039564 PMID:35127508 PMID:35171259 PMID:35186721 PMID:35264596 PMID:35534704 PMID:35565380 PMID:35740625 PMID:35806449 PMID:35980532 PMID:36099300 PMID:36243179 PMID:36293153 PMID:36329109 PMID:36562461 PMID:36909564 PMID:36977404 PMID:36988593 PMID:37065479 PMID:37253112 PMID:37344589 More...
NCBI chr10:72,205,032...72,231,643
Ensembl chr10:72,205,032...72,231,248
G
Rnf43
ring finger protein 43
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group O
ClinVar
PMID:28492532
NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977
G
Septin4
septin 4
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group O
ClinVar
PMID:28492532
NCBI chr10:72,366,729...72,390,764
Ensembl chr10:72,366,873...72,390,768
G
Tex14
testis expressed 14, intercellular bridge forming factor
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group O
ClinVar
PMID:28492532
NCBI chr10:72,231,766...72,356,938
Ensembl chr10:72,231,801...72,355,805
G
Slx4
SLX4 structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group P
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21240275 PMID:21240277 PMID:21805310 PMID:22383991 PMID:22401137 PMID:22911665 PMID:23211700 PMID:23840564 PMID:23994477 PMID:24763404 PMID:25288723 PMID:25326635 PMID:25741868 PMID:26201965 PMID:26824983 PMID:27153395 PMID:28125078 PMID:28202063 PMID:28492532 PMID:28678401 PMID:29146900 PMID:29344583 PMID:29607586 PMID:29641532 PMID:29868112 PMID:29891941 PMID:30268473 PMID:30306255 PMID:30613976 PMID:30995915 PMID:31300551 PMID:31469826 PMID:31921681 PMID:32368696 PMID:32546565 PMID:33270637 PMID:33558524 PMID:36916425 More...
NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295
G
Ercc4
ERCC excision repair 4, endonuclease catalytic subunit
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group Q
OMIM ClinVar
PMID:8797827 PMID:9485007 PMID:9579555 PMID:15159313 PMID:15886521 PMID:16550608 PMID:20221251 PMID:21228398 PMID:21612988 PMID:23623386 PMID:23623389 PMID:24027083 PMID:24033266 PMID:24465539 PMID:24728327 PMID:25741868 PMID:26074087 PMID:26136524 PMID:26453996 PMID:26884178 PMID:27356891 PMID:27528516 PMID:28292785 PMID:28431612 PMID:28492532 PMID:28678401 PMID:28767289 PMID:29105242 PMID:29325523 PMID:29403087 PMID:29892709 PMID:30165384 PMID:30658521 PMID:31692161 PMID:32008151 PMID:32487094 PMID:32659497 PMID:32756499 PMID:34117267 PMID:35171259 More...
NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
G
Rad51
RAD51 recombinase
susceptibility
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group R
ClinVar OMIM
PMID:15908697 PMID:25741868 PMID:26253028 PMID:26681308 PMID:36474027
NCBI chr 3:106,099,753...106,125,038
Ensembl chr 3:106,100,381...106,125,035
G
Brca1
BRCA1, DNA repair associated
susceptibility
ISO
ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S
ClinVar OMIM
PMID:1514655 PMID:2618727 PMID:3347199 PMID:7493024 PMID:7545954 PMID:7663517 PMID:7837387 PMID:7894491 PMID:7894492 PMID:8531967 PMID:8595428 PMID:8606385 PMID:8644702 PMID:8644703 PMID:8807330 PMID:8833256 PMID:8841191 PMID:9042909 PMID:9063749 PMID:9145676 PMID:9150153 PMID:9150154 PMID:9159158 PMID:9333265 PMID:9452076 PMID:9482581 PMID:9544766 PMID:9634504 PMID:9663595 PMID:9667259 PMID:9836472 PMID:10090881 PMID:10196379 PMID:10359546 PMID:10447273 PMID:10464624 PMID:10464631 PMID:10486320 PMID:10615237 PMID:10739756 PMID:10788334 PMID:10866029 PMID:10885601 PMID:10923033 PMID:11157798 PMID:11179017 PMID:11251181 PMID:11320250 PMID:11389159 PMID:11391658 PMID:11400546 PMID:11410501 PMID:11466700 PMID:11504767 PMID:11597388 PMID:11606101 PMID:11668617 PMID:11748305 PMID:11773283 PMID:11802209 PMID:11896095 PMID:11956590 PMID:12097257 PMID:12125210 PMID:12181777 PMID:12354934 PMID:12393792 PMID:12402332 PMID:12496476 PMID:12566964 PMID:12698193 PMID:12752644 PMID:12771565 PMID:12827452 PMID:12955716 PMID:14517958 PMID:14534301 PMID:14555511 PMID:14576434 PMID:14729053 PMID:14760071 PMID:14986830 PMID:15004537 PMID:15024741 PMID:15131401 PMID:15133502 PMID:15133503 PMID:15145354 PMID:15146557 PMID:15172985 PMID:15235020 PMID:15285897 PMID:15290653 PMID:15350310 PMID:15383404 PMID:15726418 PMID:15876480 PMID:15951956 PMID:15955237 PMID:15994883 PMID:16014699 PMID:16030426 PMID:16103107 PMID:16162645 PMID:16168118 PMID:16211554 PMID:16234499 PMID:16267036 PMID:16284991 PMID:16397213 PMID:16403807 PMID:16455195 PMID:16489001 PMID:16528604 PMID:16541315 PMID:16683254 PMID:16905680 PMID:16998791 PMID:17279547 PMID:17305420 PMID:17307836 PMID:17308087 PMID:17341484 PMID:17369502 PMID:17574969 PMID:17585057 PMID:17591843 PMID:17645508 PMID:17688236 PMID:17922257 PMID:17924331 PMID:18036263 PMID:18159056 PMID:18284688 PMID:18285836 PMID:18334730 PMID:18375895 PMID:18413725 PMID:18431737 PMID:18445692 PMID:18465347 PMID:18694767 PMID:18762988 PMID:18763032 PMID:18783588 PMID:18824701 PMID:18940477 PMID:19200354 PMID:19208665 PMID:19339519 PMID:19340607 PMID:19359128 PMID:19367322 PMID:19563646 PMID:19661094 PMID:19941162 PMID:20020529 PMID:20103620 PMID:20104584 PMID:20301425 PMID:20345474 PMID:20373018 PMID:20378548 PMID:20455026 PMID:20507347 PMID:20516115 PMID:20569256 PMID:20665887 PMID:20727672 PMID:20730485 PMID:20807450 PMID:20960228 PMID:21119707 PMID:21232165 PMID:21324516 PMID:21356067 PMID:21371001 PMID:21394826 PMID:21447777 PMID:21473589 PMID:21503673 PMID:21520273 PMID:21523855 PMID:21643751 PMID:21673748 PMID:21702907 PMID:21708019 PMID:21709188 PMID:21725363 PMID:21834074 PMID:21946536 PMID:21965345 PMID:21989927 PMID:21990134 PMID:22006311 PMID:22009639 PMID:22010008 PMID:22032251 PMID:22034289 PMID:22136207 PMID:22160602 PMID:22185575 PMID:22425665 PMID:22430266 PMID:22476429 PMID:22505045 PMID:22516946 PMID:22535016 PMID:22666503 PMID:22684231 PMID:22703879 PMID:22711857 PMID:22753008 PMID:22776961 PMID:22798144 PMID:22811390 PMID:22843421 PMID:22889855 PMID:23192404 PMID:23199084 PMID:23231788 PMID:23232912 PMID:23249957 PMID:23269703 PMID:23278966 PMID:23289006 PMID:23458327 PMID:23469205 PMID:23479189 PMID:23569316 PMID:23580280 PMID:23613828 PMID:23633455 PMID:23683081 PMID:23704984 PMID:23725378 PMID:23747895 PMID:23867111 PMID:23954390 PMID:23982851 PMID:24033266 PMID:24055113 PMID:24131973 PMID:24212087 PMID:24240112 PMID:24307375 PMID:24312913 PMID:24319668 PMID:24333842 PMID:24448499 PMID:24489791 PMID:24504028 PMID:24516540 PMID:24549055 PMID:24569164 PMID:24728189 PMID:24728327 PMID:24737347 PMID:24825132 PMID:24845084 PMID:24884479 PMID:25066507 PMID:25085762 PMID:25186627 PMID:25256238 PMID:25330149 PMID:25371446 PMID:25418591 PMID:25428789 PMID:25452441 PMID:25472942 PMID:25556971 PMID:25637381 PMID:25652403 PMID:25682074 PMID:25716084 PMID:25741868 PMID:25748678 PMID:25782689 PMID:25823446 PMID:25863477 PMID:25948282 PMID:25980754 PMID:26023681 PMID:26026974 PMID:26083025 PMID:26187060 PMID:26219728 PMID:26236408 PMID:26246475 PMID:26250392 PMID:26287763 PMID:26295337 PMID:26350514 PMID:26430151 PMID:26440929 PMID:26467025 PMID:26556299 PMID:26666763 PMID:26681312 PMID:26689913 PMID:26718727 PMID:26727311 PMID:26777316 PMID:26786923 PMID:26843898 PMID:26845104 PMID:26852130 PMID:26884819 PMID:26913838 PMID:27062684 PMID:27082205 PMID:27083775 PMID:27153395 PMID:27208206 PMID:27257965 PMID:27272900 PMID:27425403 PMID:27433846 PMID:27478808 PMID:27495310 PMID:27553291 PMID:27741520 PMID:27760710 PMID:27836010 PMID:27914478 PMID:27989354 PMID:28049106 PMID:28091860 PMID:28111427 PMID:28122244 PMID:28145423 PMID:28152038 PMID:28176296 PMID:28265380 PMID:28281021 PMID:28283652 PMID:28285342 PMID:28324225 PMID:28398198 PMID:28423363 PMID:28477318 PMID:28490613 PMID:28492532 PMID:28503720 PMID:28525389 PMID:28569743 PMID:28724667 PMID:28726806 PMID:28781887 PMID:28831036 PMID:28888541 PMID:29021639 PMID:29061375 PMID:29116469 PMID:29133208 PMID:29161300 PMID:29297111 PMID:29310832 PMID:29335924 PMID:29335925 PMID:29339979 PMID:29348823 PMID:29433453 PMID:29435075 PMID:29446198 PMID:29478780 PMID:29486991 PMID:29492181 PMID:29506128 PMID:29625052 PMID:29684080 PMID:29712865 PMID:29758562 PMID:29790872 PMID:29884841 PMID:29901183 PMID:29907814 PMID:29922827 PMID:29936259 PMID:29961768 PMID:30055521 PMID:30067863 PMID:30078507 PMID:30093976 PMID:30101128 PMID:30103829 PMID:30113427 PMID:30152102 PMID:30159786 PMID:30186769 PMID:30191368 PMID:30199306 PMID:30209399 PMID:30219179 PMID:30257991 PMID:30287823 PMID:30322717 PMID:30333958 PMID:30458859 PMID:30480775 PMID:30489631 PMID:30606148 PMID:30613976 PMID:30646163 PMID:30676620 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30765603 PMID:30825404 PMID:30875412 PMID:30962250 PMID:30975216 PMID:31065452 PMID:31090900 PMID:31131967 PMID:31159747 PMID:31209999 PMID:31214711 PMID:31263571 PMID:31325073 PMID:31336956 PMID:31341520 PMID:31347298 PMID:31360904 PMID:31407530 PMID:31447099 PMID:31454914 PMID:31472684 PMID:31528241 PMID:31616044 PMID:31639439 PMID:31742824 PMID:31825140 PMID:31843900 PMID:31851867 PMID:31853058 PMID:31871297 PMID:32039725 PMID:32058061 PMID:32123317 PMID:32152249 PMID:32295079 PMID:32338768 PMID:32341426 PMID:32371905 PMID:32438681 PMID:32486089 PMID:32546644 PMID:32614418 PMID:32699032 PMID:32719484 PMID:32782288 PMID:32843487 PMID:32854451 PMID:32856869 PMID:32862574 PMID:32885271 PMID:33087888 PMID:33098347 PMID:33309985 PMID:33314633 PMID:33449224 PMID:33468216 PMID:33471991 PMID:33477375 PMID:33484353 PMID:33606809 PMID:33646313 PMID:33758026 PMID:34290354 PMID:34308104 PMID:34413315 PMID:34657373 PMID:34981296 PMID:35039564 PMID:35196514 PMID:35377489 PMID:35409996 PMID:35464868 PMID:35578052 PMID:35918668 PMID:36003761 PMID:36329109 PMID:36612302 PMID:36753473 PMID:36927983 PMID:36988593 More...
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
G
Hira
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group T
ClinVar
PMID:25741868
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
G
Lgr6
leucine-rich repeat-containing G protein-coupled receptor 6
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group T
ClinVar
PMID:26046368
NCBI chr13:46,424,382...46,544,074
Ensembl chr13:46,424,383...46,543,945
G
Ube2t
ubiquitin-conjugating enzyme E2T
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group T
OMIM ClinVar
PMID:25741868 PMID:26046368 PMID:26119737 PMID:28492532
NCBI chr13:46,403,352...46,413,854
Ensembl chr13:46,403,375...46,414,835
G
Xrcc2
X-ray repair cross complementing 2
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group U
OMIM ClinVar
PMID:11118202 PMID:19690184 PMID:22232082 PMID:22464251 PMID:23054243 PMID:23383274 PMID:25637381 PMID:25741868 PMID:25918678 PMID:26046366 PMID:26467025 PMID:26689913 PMID:26787654 PMID:26845104 PMID:27208205 PMID:27233470 PMID:28486781 PMID:28492532 PMID:28767289 PMID:28779002 PMID:28864920 PMID:30306255 PMID:32832836 PMID:32860008 PMID:33471991 More...
NCBI chr 4:9,423,873...9,502,980
Ensembl chr 4:9,423,898...9,442,482
G
Mad2l2
mitotic arrest deficient 2 like 2
ISO
ClinVar Annotator: match by term: Fanconi anemia complementation group V
ClinVar OMIM
PMID:27500492
NCBI chr 5:158,563,545...158,576,698
Ensembl chr 5:158,563,567...158,576,693
G
Rfwd3
ring finger and WD repeat domain 3
ISO
ClinVar Annotator: match by term: Fanconi anemia, complementation group W
OMIM ClinVar
PMID:25741868 PMID:26474068 PMID:28492532 PMID:28691929 PMID:33044890
NCBI chr19:39,235,883...39,268,479
Ensembl chr19:39,236,787...39,268,479
G
Tbxas1
thromboxane A synthase 1
ISO
ClinVar Annotator: match by term: Ghosal hematodiaphyseal dysplasia | ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome | ClinVar Annotator: match by term: TBXAS1-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8702713 PMID:17203301 PMID:18264100 PMID:19114962 PMID:22735388 PMID:25741868 PMID:27156553 PMID:28492532 PMID:28748566 PMID:29068549 PMID:33185009 PMID:33244729 PMID:33595912 PMID:35395429 More...
NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
G
Lars2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
OMIM ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28832386 PMID:30737337 PMID:32442335 PMID:32747562 More...
NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
G
Slc30a10
solute carrier family 30, member 10
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease | ClinVar Annotator: match by term: Hypermanganesemia with dystonia 1 | ClinVar Annotator: match by term: Hypermanganesemia with dystonia, polycythemia, and cirrhosis
CTD ClinVar OMIM
PMID:11040156 PMID:18392750 PMID:22341971 PMID:22341972 PMID:22926781 PMID:22934317 PMID:25741868 PMID:27117033 PMID:28492532 PMID:30272946 PMID:31594250 PMID:34315874 More...
NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
G
Slc11a2
solute carrier family 11 member 2
ISO
ClinVar Annotator: match by term: SLC11A2-related condition
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:35457224
NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
G
Akap12
A-kinase anchoring protein 12
disease_progression
ISO
RGD
PMID:26891149
RGD:14348967
NCBI chr 1:40,730,123...40,819,863
Ensembl chr 1:40,730,123...40,819,886
G
Arhgap26
Rho GTPase activating protein 26
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
OMIM CTD ClinVar
PMID:10908648
NCBI chr18:30,835,806...31,237,945
Ensembl chr18:30,838,671...31,235,194
G
Asxl1
ASXL transcriptional regulator 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
CTD ClinVar
PMID:20880116 PMID:21576631 PMID:21881046 PMID:22031865 PMID:22058207 PMID:22489043 PMID:23018865 PMID:23619563 PMID:23690417 PMID:24255920 PMID:24442206 PMID:24458439 PMID:24496303 PMID:24695057 PMID:25596267 PMID:25652455 PMID:25741868 PMID:26457647 PMID:27276561 PMID:27895058 PMID:28492532 PMID:30013160 PMID:32581362 More...
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
G
Cbl
Cbl proto-oncogene
ISO
DNA:mutations:cds: ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 PMID:19387008 PMID:19571318 PMID:19620960 PMID:19901108 PMID:20543203 PMID:20555362 PMID:20619386 PMID:20644105 PMID:20694012 PMID:20880116 PMID:20951944 PMID:20955399 PMID:21681191 PMID:21828135 PMID:21901340 PMID:22131879 PMID:22190897 PMID:22246246 PMID:22315502 PMID:22733026 PMID:23010802 PMID:23690417 PMID:23696637 PMID:23823657 PMID:24033266 PMID:24451042 PMID:24728327 PMID:24803665 PMID:25178484 PMID:25224413 PMID:25283271 PMID:25358541 PMID:25741868 PMID:25939664 PMID:25952305 PMID:26457647 PMID:27069254 PMID:27609087 PMID:28414188 PMID:28492532 PMID:28589114 PMID:28957739 PMID:29296819 PMID:29696744 PMID:31057598 PMID:32933826 PMID:33318624 PMID:33337535 PMID:33627783 PMID:33897294 PMID:35236052 PMID:19571318 More...
RGD:11038806
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
G
Csf2
colony stimulating factor 2
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22315502 PMID:9389708
RGD:10449526
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
G
Dnmt3a
DNA methyltransferase 3 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
G
Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
G
Flt3
Fms related receptor tyrosine kinase 3
ISS
OMIM:607785
MouseDO
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
G
Gata2
GATA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
G
Jak3
Janus kinase 3
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23832011 PMID:23832011
RGD:11069125
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
G
Kras
KRAS proto-oncogene, GTPase
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM:607785
CTD ClinVar MouseDO
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 PMID:8439212 PMID:12460918 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18594010 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 PMID:20978259 PMID:21044336 PMID:21063026 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22392911 PMID:22407852 PMID:22499344 PMID:22571758 PMID:22683711 PMID:22722830 PMID:22734028 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23182985 PMID:23255105 PMID:23325582 PMID:23406027 PMID:24033266 PMID:24138715 PMID:24558511 PMID:24720724 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26242988 PMID:26372703 PMID:26457647 PMID:26521233 PMID:26623049 PMID:28492532 PMID:29298116 PMID:30443000 PMID:31891627 PMID:32581362 PMID:35794233 More...
NCBI chr 4:178,185,418...178,218,484
G
Nf1
neurofibromin 1
ISO ISS
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM:607785 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:1511985 PMID:1568246 PMID:1568247 PMID:1757093 PMID:1783401 PMID:2114220 PMID:2948975 PMID:7581973 PMID:7607663 PMID:7633431 PMID:7649559 PMID:7655472 PMID:7874161 PMID:7903661 PMID:7904209 PMID:7981679 PMID:7981692 PMID:8069310 PMID:8099055 PMID:8264648 PMID:8385067 PMID:8437860 PMID:8499944 PMID:8499945 PMID:8544190 PMID:8664912 PMID:8669813 PMID:8829638 PMID:8837715 PMID:8845843 PMID:8957181 PMID:9003501 PMID:9042399 PMID:9150739 PMID:9180088 PMID:9195229 PMID:9219873 PMID:9298829 PMID:9385374 PMID:9463322 PMID:9475595 PMID:9536098 PMID:9639526 PMID:9783703 PMID:10076878 PMID:10336779 PMID:10494088 PMID:10543400 PMID:10607834 PMID:10678181 PMID:10712197 PMID:10721668 PMID:10726756 PMID:10862084 PMID:10874316 PMID:10980545 PMID:11137998 PMID:11258625 PMID:11292340 PMID:11431704 PMID:11704931 PMID:11726231 PMID:11735023 PMID:11857752 PMID:12095621 PMID:12112660 PMID:12483293 PMID:12522551 PMID:12552569 PMID:12566521 PMID:12687660 PMID:12807981 PMID:12822827 PMID:12872266 PMID:14517963 PMID:14569132 PMID:14722917 PMID:15060124 PMID:15146469 PMID:15207265 PMID:15523642 PMID:15846561 PMID:16199547 PMID:16380919 PMID:16461335 PMID:16479075 PMID:16513807 PMID:16542390 PMID:16544997 PMID:16773574 PMID:16786508 PMID:16835897 PMID:16870183 PMID:16937374 PMID:16944272 PMID:16961930 PMID:17114577 PMID:17160901 PMID:17295913 PMID:17311297 PMID:17406642 PMID:17426081 PMID:17576681 PMID:17889038 PMID:17914445 PMID:18041031 PMID:18183640 PMID:18484666 PMID:18546366 PMID:18800150 PMID:19061981 PMID:19076627 PMID:19120036 PMID:19142971 PMID:19738042 PMID:19845691 PMID:19935827 PMID:20301288 PMID:20601955 PMID:20602485 PMID:21089070 PMID:21278392 PMID:21280148 PMID:21354044 PMID:21362601 PMID:21520333 PMID:21532985 PMID:21838856 PMID:22034633 PMID:22108604 PMID:22155606 PMID:22190595 PMID:22315502 PMID:22608206 PMID:22703879 PMID:22807134 PMID:22925204 PMID:22965773 PMID:23047742 PMID:23244495 PMID:23404336 PMID:23460398 PMID:23637863 PMID:23656349 PMID:23668869 PMID:23758643 PMID:23781326 PMID:23913538 PMID:24033266 PMID:24218100 PMID:24232412 PMID:24357598 PMID:24413922 PMID:24654934 PMID:24694336 PMID:24711935 PMID:24728327 PMID:24789688 PMID:24922668 PMID:24932921 PMID:25074460 PMID:25324867 PMID:25325900 PMID:25326637 PMID:25370043 PMID:25403449 PMID:25480383 PMID:25525159 PMID:25541118 PMID:25624686 PMID:25741868 PMID:25788518 PMID:25810463 PMID:25925892 PMID:25966637 PMID:26056819 PMID:26088551 PMID:26178382 PMID:26457647 PMID:26457648 PMID:26467025 PMID:26478990 PMID:26509978 PMID:26514327 PMID:26635368 PMID:26740943 PMID:26758488 PMID:26840085 PMID:26962827 PMID:26969325 PMID:27060315 PMID:27069254 PMID:27074763 PMID:27322474 PMID:27716896 PMID:27838393 PMID:27980226 PMID:28008555 PMID:28068329 PMID:28135719 PMID:28152038 PMID:28422438 PMID:28492532 PMID:28518168 PMID:28548933 PMID:28706617 PMID:28873162 PMID:28961165 PMID:28976792 PMID:29089047 PMID:29146900 PMID:29290338 PMID:29415745 PMID:29449315 PMID:29471550 PMID:29483232 PMID:29522274 PMID:29588991 PMID:29618358 PMID:29620724 PMID:29673180 PMID:29685074 PMID:29849115 PMID:29872168 PMID:29914388 PMID:29926981 PMID:30014477 PMID:30111351 PMID:30124220 PMID:30190611 PMID:30287823 PMID:30290804 PMID:30308447 PMID:30530636 PMID:31159747 PMID:31160754 PMID:31308404 PMID:31347283 PMID:31370276 PMID:31371350 PMID:31443423 PMID:31476437 PMID:31533651 PMID:31533797 PMID:31573083 PMID:31595648 PMID:31717729 PMID:31730495 PMID:31766501 PMID:31776437 PMID:32005694 PMID:32056211 PMID:32107864 PMID:32123317 PMID:32126153 PMID:32461654 PMID:32533764 PMID:32566746 PMID:32575496 PMID:32581362 PMID:32873259 PMID:32980694 PMID:33046013 PMID:33210232 PMID:33372952 PMID:33471991 PMID:33540839 PMID:33674644 PMID:33804961 PMID:33919865 PMID:34080803 PMID:34418705 PMID:34427956 PMID:34860164 PMID:34988040 PMID:35698239 PMID:36988593 PMID:37149759 PMID:125305868 More...
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
G
Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia
CTD ClinVar
PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 PMID:8120410 PMID:10598665 PMID:12460918 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18794081 PMID:18948947 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19966803 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21163920 PMID:21263000 PMID:21305640 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:23325582 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23708912 PMID:24284627 PMID:24806883 PMID:25157968 PMID:25741868 PMID:26457647 PMID:26619011 PMID:26980726 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:29692343 PMID:33681212 PMID:36130886 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO ISS
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM:607785 DNA:missense mutations:cds:multiple (human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 PMID:11992261 PMID:12058348 PMID:12161469 PMID:12161596 PMID:12325025 PMID:12529711 PMID:12634870 PMID:12717436 PMID:12739139 PMID:12826400 PMID:12900909 PMID:12960218 PMID:13908956 PMID:14634749 PMID:14644997 PMID:14676626 PMID:14961557 PMID:14974085 PMID:14982869 PMID:15001945 PMID:15009076 PMID:15121796 PMID:15240615 PMID:15248152 PMID:15273746 PMID:15385933 PMID:15389709 PMID:15520399 PMID:15539800 PMID:15604238 PMID:15644411 PMID:15689434 PMID:15710330 PMID:15712196 PMID:15723289 PMID:15725481 PMID:15761018 PMID:15834506 PMID:15842656 PMID:15889278 PMID:15928039 PMID:15929108 PMID:15940693 PMID:15948193 PMID:15956085 PMID:15985475 PMID:15987685 PMID:15996221 PMID:16053901 PMID:16115145 PMID:16124853 PMID:16166557 PMID:16263833 PMID:16338218 PMID:16358218 PMID:16369799 PMID:16377799 PMID:16399795 PMID:16461457 PMID:16488201 PMID:16498234 PMID:16518851 PMID:16523510 PMID:16533526 PMID:16631468 PMID:16638574 PMID:16643459 PMID:16679933 PMID:16733669 PMID:16804314 PMID:16830086 PMID:16892325 PMID:16924159 PMID:16987887 PMID:16990350 PMID:17020470 PMID:17052965 PMID:17143285 PMID:17177198 PMID:17222357 PMID:17227708 PMID:17339163 PMID:17361219 PMID:17497712 PMID:17515436 PMID:17546245 PMID:17576681 PMID:17641779 PMID:17661820 PMID:17875892 PMID:17910045 PMID:17935252 PMID:17942397 PMID:17972951 PMID:18241070 PMID:18253957 PMID:18331608 PMID:18372317 PMID:18373317 PMID:18378677 PMID:18454468 PMID:18470943 PMID:18559669 PMID:18562489 PMID:18678287 PMID:18758896 PMID:18759865 PMID:18849586 PMID:18854871 PMID:18925961 PMID:19008228 PMID:19017799 PMID:19020799 PMID:19047918 PMID:19054014 PMID:19061217 PMID:19063751 PMID:19077116 PMID:19120036 PMID:19125092 PMID:19133693 PMID:19174044 PMID:19179468 PMID:19251646 PMID:19260062 PMID:19352411 PMID:19509418 PMID:19568997 PMID:19706403 PMID:19725129 PMID:19737548 PMID:19768645 PMID:19773259 PMID:19798502 PMID:19825837 PMID:19835954 PMID:19864201 PMID:20030748 PMID:20112233 PMID:20186801 PMID:20237506 PMID:20301303 PMID:20301557 PMID:20308328 PMID:20383758 PMID:20493809 PMID:20535210 PMID:20578946 PMID:20651068 PMID:20718194 PMID:20883402 PMID:20954246 PMID:20979190 PMID:21204800 PMID:21321969 PMID:21339643 PMID:21340158 PMID:21365175 PMID:21365683 PMID:21407260 PMID:21526175 PMID:21533187 PMID:21548061 PMID:21555152 PMID:21567923 PMID:21590266 PMID:21747628 PMID:21784453 PMID:21901340 PMID:21910226 PMID:21910245 PMID:21930766 PMID:21934682 PMID:22190897 PMID:22315187 PMID:22315502 PMID:22371576 PMID:22411627 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22551697 PMID:22555271 PMID:22585553 PMID:22681964 PMID:22711529 PMID:22781091 PMID:22822385 PMID:22847776 PMID:22848035 PMID:22923420 PMID:23297836 PMID:23317994 PMID:23321623 PMID:23334666 PMID:23334668 PMID:23446178 PMID:23457302 PMID:23513489 PMID:23584145 PMID:23624134 PMID:23673659 PMID:23726368 PMID:23756559 PMID:23771920 PMID:23813970 PMID:23825065 PMID:23832011 PMID:24033266 PMID:24037001 PMID:24039098 PMID:24072241 PMID:24150203 PMID:24183200 PMID:24219368 PMID:24401936 PMID:24451042 PMID:24458522 PMID:24628801 PMID:24718990 PMID:24728327 PMID:24754368 PMID:24767283 PMID:24775816 PMID:24803665 PMID:24820750 PMID:24891296 PMID:24935154 PMID:25097206 PMID:25156961 PMID:25326637 PMID:25337068 PMID:25383899 PMID:25395418 PMID:25425531 PMID:25500235 PMID:25533962 PMID:25544017 PMID:25585602 PMID:25595571 PMID:25612910 PMID:25722345 PMID:25731833 PMID:25741868 PMID:25741869 PMID:25742478 PMID:25862627 PMID:25884655 PMID:25912702 PMID:25917897 PMID:26084119 PMID:26242988 PMID:26286251 PMID:26337637 PMID:26372199 PMID:26456833 PMID:26457647 PMID:26467025 PMID:26495027 PMID:26556299 PMID:26607044 PMID:26619011 PMID:26645620 PMID:26673822 PMID:26783207 PMID:26785492 PMID:26817465 PMID:26822237 PMID:26918529 PMID:27038324 PMID:27069254 PMID:27104176 PMID:27117572 PMID:27153395 PMID:27193571 PMID:27238887 PMID:27276561 PMID:27353043 PMID:27484170 PMID:27521173 PMID:27562378 PMID:27626068 PMID:27659786 PMID:27783593 PMID:28051113 PMID:28074573 PMID:28098151 PMID:28135719 PMID:28363362 PMID:28483241 PMID:28492532 PMID:28628100 PMID:28650561 PMID:28681392 PMID:28748642 PMID:28921562 PMID:28957739 PMID:28991257 PMID:29038591 PMID:29057136 PMID:29146883 PMID:29214238 PMID:29263817 PMID:29276006 PMID:29346770 PMID:29356064 PMID:29493581 PMID:29517769 PMID:29555671 PMID:29620724 PMID:29693080 PMID:29703613 PMID:29848529 PMID:29907801 PMID:29988639 PMID:30025578 PMID:30029678 PMID:30050098 PMID:30055033 PMID:30287924 PMID:30294303 PMID:30311386 PMID:30355600 PMID:30410095 PMID:30417923 PMID:30455982 PMID:30515541 PMID:30541462 PMID:30602027 PMID:30604644 PMID:30692697 PMID:30732632 PMID:30784236 PMID:30868567 PMID:30896080 PMID:31040167 PMID:31064749 PMID:31164752 PMID:31219622 PMID:31263281 PMID:31370276 PMID:31560489 PMID:31564432 PMID:31573083 PMID:31637070 PMID:32059087 PMID:32164556 PMID:32233106 PMID:32371413 PMID:32410215 PMID:32561839 PMID:32581362 PMID:32719394 PMID:32746448 PMID:32824488 PMID:32860008 PMID:32901917 PMID:33091040 PMID:33318624 PMID:34006472 PMID:34008892 PMID:34194850 PMID:34356170 PMID:34411415 PMID:35418823 PMID:35885957 PMID:35904599 PMID:35979676 PMID:36135330 PMID:36349709 PMID:36474027 PMID:36567979 PMID:37019085 PMID:37568403 PMID:12717436 More...
RGD:11066398
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rac2
Rac family small GTPase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457648
NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
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Rras
RAS related
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr 1:95,500,582...95,504,362
Ensembl chr 1:95,500,566...95,504,357
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Rras2
RAS related 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr 1:168,233,693...168,303,111
Ensembl chr 1:168,233,693...168,303,111
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Runx1
RUNX family transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Setbp1
SET binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23832011 PMID:26457647
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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Sh2b3
SH2B adaptor protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Zrsr2
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26457647
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Leukemoid reaction
ClinVar
PMID:18397343 PMID:20400977 PMID:28492532
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Samd9
sterile alpha motif domain containing 9
ISO
ClinVar Annotator: match by term: MIRAGE syndrome | ClinVar Annotator: match by term: MYELODYSPLASIA, INFECTION, RESTRICTION OF GROWTH, ADRENAL HYPOPLASIA, GENITAL PHENOTYPES, AND ENTEROPATHY
OMIM ClinVar
PMID:16960814 PMID:18094730 PMID:24029230 PMID:25741868 PMID:27182967 PMID:28346228 PMID:28492532 PMID:29266745 PMID:29365320 PMID:29506479 PMID:30046003 PMID:31208161 PMID:31231135 PMID:31309983 PMID:31620126 PMID:31638924 PMID:31666768 PMID:32106287 PMID:33237688 PMID:34621053 More...
NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322
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Samd9l
sterile alpha motif domain containing 9 like
ISO
ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 | ClinVar Annotator: match by term: Monosomy 7 of bone marrow
OMIM ClinVar
PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 PMID:28492532 PMID:28570036 PMID:29146883 PMID:30046003 PMID:33884299 PMID:34621053 More...
NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415
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Samd9
sterile alpha motif domain containing 9
ISO
ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 2
OMIM ClinVar
PMID:2569483 PMID:25741868 PMID:28346228 PMID:28487541 PMID:28492532 PMID:29506479 PMID:29535429 PMID:30046003 PMID:30322869 PMID:31231135 PMID:33237688 PMID:34621053 More...
NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322
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Abcg2
ATP binding cassette subfamily G member 2
treatment
ISO
RGD
PMID:26314844 PMID:16917002
RGD:11081075 , RGD:11081144
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Ace
angiotensin I converting enzyme
ISO
protein:increased activity:serum
RGD
PMID:22345095
RGD:11038914
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Alb
albumin
disease_progression
ISO
RGD
PMID:17096887
RGD:11035276
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Alkbh5
alkB homolog 5, RNA demethylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
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Apoe
apolipoprotein E
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Arid4a
AT-rich interaction domain 4A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:89,522,459...89,593,868
Ensembl chr 6:89,522,442...89,593,510
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Aurka
aurora kinase A
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Myelomatosis protein:increased expression:serum
ClinVar RGD
PMID:26619011 PMID:32856850
RGD:329955356
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bap1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Bard1
BRCA1 associated RING domain 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
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Bcl2
BCL2, apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1
Bcl2-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12429644 PMID:14656874
RGD:11353847
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Bcl2l10
Bcl2-like 10
ISO
protein:increased expression:bone marrow :
RGD
PMID:27455953
RGD:14392808
NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
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Bcorl1
BCL6 co-repressor-like 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087
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Bnip3
BCL2 interacting protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18172295
NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18413255 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21784453 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24163374 PMID:24303953 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24920063 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27236105 PMID:27276561 PMID:28492532 PMID:28854169 PMID:29595366 PMID:29907801 PMID:29925953 PMID:31336229 PMID:31891627 PMID:33040082 PMID:34476331 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:11904319 PMID:16199547 PMID:17924331 PMID:20104584 PMID:21990134 PMID:22666503 PMID:23451180 PMID:25741868 PMID:28492532 PMID:30883759 PMID:32398771 PMID:33646313 More...
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Btg1
BTG anti-proliferation factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16918137
NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649
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Cbl
Cbl proto-oncogene
ISO
mRNA:decreased expression:mononuclear cell:
RGD
PMID:23948411
RGD:11038794
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Cbx7
chromobox 7
susceptibility
ISO
DNA:snp:intron:c.113+3502C>T (human) (rs877529) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23955597 PMID:23955597
RGD:11352716
NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
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Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16918137
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Ccn1
cellular communication network factor 1
exacerbates
ISO
mRNA, protein:increased expression:bone marrow (human) mRNA,protein:increased expression:bone marrow (human)
RGD
PMID:28035364 PMID:25061178
RGD:329845528 , RGD:329845546
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Ccnd1
cyclin D1
susceptibility
ISO
DNA:snp:exon:c.870G>A (rs603965) (human) ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 PMID:25741868 PMID:15755896 PMID:23502783 More...
RGD:1581171 , RGD:11353784
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ccnd2
cyclin D2
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Ccnd3
cyclin D3
ISO
RGD
PMID:15755896
RGD:1581171
NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371
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Cd40
CD40 molecule
treatment
ISO
human cells in a mouse model
RGD
PMID:10866315
RGD:11522720
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg
CD40 ligand
treatment disease_progression
ISO
protein:increased expression:serum (human)
RGD
PMID:15565183 PMID:22403003 PMID:27243341
RGD:11352240 , RGD:11352251 , RGD:11352268
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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Cd46
CD46 molecule
ISO
protein:increased expression:plasma cell (human)
RGD
PMID:16728275
RGD:11352814
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cd86
CD86 molecule
severity
ISO
protein:increased expression:bone marrow, plasma cell (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16611307 PMID:22705596
RGD:11354971
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cdk4
cyclin-dependent kinase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9425228 PMID:11756559 PMID:15880589 PMID:21801156 PMID:22804906 PMID:23384855 PMID:23546221 PMID:24256466 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29774366 More...
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
DNA:hypermethylation:: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16008847 PMID:12681979
RGD:11252185
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2c
cyclin-dependent kinase inhibitor 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 5:124,411,123...124,416,278
Ensembl chr 5:124,411,124...124,416,278
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Cfhr1
complement factor H-related 1
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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Chi3l1
chitinase 3 like 1
severity
ISO
protein:increased secretion:serum (human)
RGD
PMID:16930142
RGD:4892645
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Crbn
cereblon
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple myeloma
CTD ClinVar
PMID:26186254
NCBI chr 4:139,701,154...139,719,949
Ensembl chr 4:139,701,094...139,719,938
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Csf2
colony stimulating factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7540856 PMID:8104070 PMID:8555506
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7534716 PMID:7540856
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
susceptibility
ISO
DNA:microsatellite polymorphism:exon: :
RGD
PMID:11167807
RGD:11352247
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Cyld
CYLD lysine 63 deubiquitinase
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
susceptibility
ISO
DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human)
RGD
PMID:18285692
RGD:11352726
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp2c6
cytochrome P450, family 2, subfamily C, polypeptide 6
treatment no_association
ISO
DNA:polymorphisms: :
RGD
PMID:17666363 PMID:20684753
RGD:11352748 , RGD:11352804
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Cyp2d4
cytochrome P450, family 2, subfamily d, polypeptide 4
no_association
ISO
DNA:polymorphisms: :
RGD
PMID:20684753
RGD:11352804
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Dsg2
desmoglein 2
disease_progression
ISO
RGD
PMID:34245117
RGD:401851080
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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Eif1ax
eukaryotic translation initiation factor 1A, X-linked
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
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Eng
endoglin
severity
ISO
protein:increased expression:serum:
RGD
PMID:23576184
RGD:11041181
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Ephx1
epoxide hydrolase 1
no_association susceptibility
ISO
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) DNA:SNP:exon:rs2234922 (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16949155 PMID:19736056 PMID:16949155 PMID:24521996
RGD:11252116 , RGD:11252121 , RGD:11252122
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
ISO
DNA:SNP: :rs735482 (human)
RGD
PMID:21435719
RGD:10450871
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
disease_progression sexual_dimorphism
ISO
DNA:polymorphism: :p.K751Q (rs13181) (human) DNA:SNP:exon 23:p.K751Q (rs1052559)(Human)
RGD
PMID:22183071 PMID:17131345
RGD:11252199 , RGD:401827277
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Erf
Ets2 repressor factor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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Faslg
Fas ligand
disease_progression
ISO
RGD
PMID:16321857
RGD:11049149
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fcgr2a
Fc gamma receptor 2A
disease_progression susceptibility
ISO
DNA:polymorphism: :rs1801274(human)
RGD
PMID:25850245 PMID:17315188
RGD:11040778 , RGD:11040938
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelomatosis
CTD ClinVar
PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 PMID:8858131 PMID:9207791 PMID:9438390 PMID:9677066 PMID:10053006 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11055896 PMID:11241532 PMID:11429702 PMID:11529856 PMID:12624096 PMID:12833394 PMID:15772091 PMID:15843401 PMID:16752380 PMID:16841094 PMID:16912704 PMID:18642369 PMID:19088846 PMID:19855393 PMID:20301540 PMID:20420824 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:21936542 PMID:22045636 PMID:23972473 PMID:24075385 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:33942288 PMID:34930662 PMID:36135330 PMID:36474027 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fgg
fibrinogen gamma chain
treatment
ISO
RGD
PMID:22348216
RGD:11040544
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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Flt3
Fms related receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Flt3lg
Fms related receptor tyrosine kinase 3 ligand
disease_progression
ISO
protein:increased expression:serum:
RGD
PMID:26521986
RGD:11075232
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
mRNA:increased expression:bone marrow
RGD
PMID:34274946
RGD:329901767
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Gpx1
glutathione peroxidase 1
ISO
RGD
PMID:8599825
RGD:11352777
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gpx3
glutathione peroxidase 3
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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Gstm1
glutathione S-transferase mu 1
severity no_association
ISO IAGP
RGD
PMID:17653713 PMID:15136237
RGD:10450826 , RGD:10450846
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
disease_progression no_association treatment
ISO
DNA:polymorphism:cds:p.I105V(human) DNA:polymorphism: :
RGD
PMID:23953887 PMID:18061666 PMID:17512053
RGD:10755413 , RGD:10755419 , RGD:11075094
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
susceptibility no_association
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16949155 PMID:15136237 PMID:12624497
RGD:10450846 , RGD:10450847
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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H19
H19 imprinted maternally expressed transcript
severity
ISO
RNA:decrased expression:blood serum (human)
RGD
PMID:29470951
RGD:156430335
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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H1f4
H1.4 linker histone, cluster member
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403
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H3c1
H3 clustered histone 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr17:41,368,379...41,368,902
Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856
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Hdac4
histone deacetylase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hfe
homeostatic iron regulator
susceptibility
ISO
DNA:missense mutation, haplotype:cds:p.C282Y (human)
RGD
PMID:10383894
RGD:8694350
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hk1
hexokinase 1
ISO
RGD
PMID:19996089
RGD:11353882
NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Myelomatosis ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Hspb1
heat shock protein family B (small) member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12855565
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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Icam1
intercellular adhesion molecule 1
treatment
ISO
protein:increased expression:serum:
RGD
PMID:7834632 PMID:7686390
RGD:11354981 , RGD:11520780
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:34641967 More...
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Igf2r
insulin-like growth factor 2 receptor
ISO
protein:increased expression:serum,urine:
RGD
PMID:29940770
RGD:14985218
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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Il10
interleukin 10
disease_progression
ISO
DNA:SNP, polymorphisms:promoter:-1082G>A, (human) protein:increased expression:serum
RGD
PMID:11307152 PMID:11022130
RGD:11041888 , RGD:11049458
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il1a
interleukin 1 alpha
ISO
DNA:SNP:promoter:-511C>T (human) DNA:SNP:promoter:-889C>T (human)
RGD
PMID:25469832 PMID:17926179 PMID:1777241
RGD:11049156 , RGD:11051973 , RGD:11059513
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il1b
interleukin 1 beta
ISO
DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human)
RGD
PMID:17926179
RGD:11051973
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il1rn
interleukin 1 receptor antagonist
no_association
ISO
DNA:snp: :11100C>T (human) DNA:repeats:intron:
RGD
PMID:17926179 PMID:10848780
RGD:11051973 , RGD:11522764
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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Il4r
interleukin 4 receptor
susceptibility
ISO
DNA:SNP: :-228120T>C(rs2107356)(human)
RGD
PMID:17315188
RGD:11040938
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8520508 PMID:12855565 PMID:19330649
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Il7r
interleukin 7 receptor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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Irf4
interferon regulatory factor 4
disease_progression treatment
ISO
DNA:translocation CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:18568025 PMID:10557056 PMID:17690696 PMID:21707574
RGD:11526161 , RGD:11530019 , RGD:11530055
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Irf8
interferon regulatory factor 8
ISO
DNA:hypermethylation
RGD
PMID:23114132
RGD:329902071
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Kdm5c
lysine demethylase 5C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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Kmt2c
lysine methyltransferase 2C
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 PMID:28492532 More...
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar RGD
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17062680 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:19794967 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22282465 PMID:22407852 PMID:22722830 PMID:23182985 PMID:23325582 PMID:23406027 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:30891959 PMID:16321859 More...
RGD:1581756
NCBI chr 4:178,185,418...178,218,484
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Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640
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Lig4
DNA ligase 4
ISO
DNA:polymorphisms CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis
OMIM CTD ClinVar RGD
PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:27063650 PMID:27612988 PMID:28492532 PMID:12471202 More...
RGD:1600305
NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Maf
MAF bZIP transcription factor
ISS
OMIM:254500
MouseDO
NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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Mcl1
MCL1 apoptosis regulator, BCL2 family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12429644
NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
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Mefv
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:polymorphisms:cds:p.E148Q,M694V(human)
RGD
PMID:25202401
RGD:11531123
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
RGD
PMID:11830493
RGD:2317526
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mettl14
methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821
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Mettl3
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
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Mga
MAX dimerization protein MGA
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
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Mir155
microRNA 155
disease_progression
ISO
miRNA:decreased expression:serum
RGD
PMID:25497370 PMID:28446295
RGD:21079441 , RGD:24922226
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir17
microRNA 17
disease_progression
ISO
miRNA:increased expression:plasma cell
RGD
PMID:23718138
RGD:329337383
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
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Mir19a
microRNA 19a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29687521
NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993
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Mir27a
microRNA 27a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917
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Mir320a
microRNA 320a
ameliorates
ISO
human gene in mouse model
RGD
PMID:27086852
RGD:155882577
NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473
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Mir92a1
microRNA 92a-1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29687521
NCBI chr15:92,181,336...92,181,413
Ensembl chr15:92,181,336...92,181,413
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Mst1r
macrophage stimulating 1 receptor
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:missense mutations:cds:677C>T, 1298A>C (human)
RGD
PMID:24839819
RGD:10449397
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:polymorphism: :2756A>G(human)
RGD
PMID:17655928
RGD:11075095
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66G>A(human)
RGD
PMID:17655928
RGD:11075095
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Muc1
mucin 1, cell surface associated
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9949172
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Ncor2
nuclear receptor co-repressor 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Nfkbia
NFKB inhibitor alpha
ISO
RGD
PMID:16540234 PMID:12377412
RGD:2298898 , RGD:2298895
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Nkx2-1
NK2 homeobox 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
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Nono
non-POU domain containing, octamer-binding
exacerbates
ISO
mRNA:increased expression: (human)
RGD
PMID:32410217
RGD:155900765
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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Notch2
notch receptor 2
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:14726396
RGD:1580763
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Nox1
NADPH oxidase 1
ISO
protein:increased expression:serum
RGD
PMID:32856850
RGD:329955356
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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Nqo1
NAD(P)H quinone dehydrogenase 1
no_association
ISO
DNA:missense mutation:cds:p.P187S (human) DNA:missense mutation:cds:p.P187S (609C>T) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16949155 PMID:18156703 PMID:18061666
RGD:10769348 , RGD:10755419
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nras
NRAS proto-oncogene, GTPase
treatment
ISO
DNA:mutation: : ClinVar Annotator: match by term: Myelomatosis
ClinVar RGD
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21163920 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23325582 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:23708912 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:24806883 PMID:25073507 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:26980726 PMID:27050078 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:29692343 PMID:30417923 PMID:32888943 PMID:33681212 PMID:36130886 PMID:24335104 More...
RGD:11535049
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Nuak1
NUAK family kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26873845
NCBI chr 7:19,330,034...19,401,918
Ensembl chr 7:19,329,933...19,401,913
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Parp1
poly (ADP-ribose) polymerase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21917757
NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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Pf4
platelet factor 4
ameliorates
ISO
RGD
PMID:21693026
RGD:329901828
NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3r2
phosphoinositide-3-kinase regulatory subunit 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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Pml
PML nuclear body scaffold
severity
ISO
protein:increased expression:bone marrow (human)
RGD
PMID:22906876
RGD:41404686
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
G
Polr1g
RNA polymerase I subunit G
sexual_dimorphism
ISO
DNA:SNP:exon 1: p.G-21A (rs967591) (human)
RGD
PMID:17131345
RGD:401827277
NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766
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Pon1
paraoxonase 1
severity treatment susceptibility
ISO
protein:decreased activity:serum (human) DNA:missense mutation:cds:p.Q192R (human)
RGD
PMID:25520116 PMID:22348216 PMID:15136237
RGD:11552578 , RGD:11040544 , RGD:10450846
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Pramex1
PRAME like, X-linked 1
severity
ISO
associated with bortezomib treatment;mRNA:increased expression:bone marrow (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16179254 PMID:24791872
RGD:11535030
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Prmt5
protein arginine methyltransferase 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29158558
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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Psors1c2
psoriasis susceptibility 1 candidate 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599
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Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11054717
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Myelomatosis
ClinVar
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26822237 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ranbp2
RAN binding protein 2
ISO
mRNA:increased expression:bone marrow, plasma cell (human)
RGD
PMID:19171422
RGD:9835349
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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Rbbp8
RB binding protein 8, endonuclease
exacerbates
ISO
mRNA:increased expression:bone marrow, plasma cell (human)
RGD
PMID:30622325
RGD:401940173
NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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Rbp1
retinol binding protein 1
disease_progression
ISO
DNA:hypermethylation: :
RGD
PMID:23699600
RGD:11073605
NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
PMID:28492532
NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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Robo1
roundabout guidance receptor 1
ameliorates
ISO
RGD
PMID:34268498
RGD:243048419
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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RT1-CE16
RT1 class I, locus CE16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17283154
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Runx1
RUNX family transcription factor 1
ISO
mRNA:splice variant
RGD
PMID:12560229
RGD:6482834
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Rxra
retinoid X receptor alpha
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
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Samhd1
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Sgk1
serum/glucocorticoid regulated kinase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283
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Sh2b3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15908783 PMID:15908783
RGD:1581238
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sparc
secreted protein acidic and cysteine rich
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:hypermethylation: :
CTD RGD
PMID:18172295 PMID:23699600
RGD:11073605
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spp1
secreted phosphoprotein 1
ISO
RGD
PMID:16208410
RGD:1581367
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tet3
tet methylcytosine dioxygenase 3
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
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Tfrc
transferrin receptor
treatment
ISO
RGD
PMID:21654517
RGD:11062101
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tgfb1
transforming growth factor, beta 1
disease_progression
ISO
DNA:hypermethylation: : protein:decreased expression:serum:
RGD
PMID:23699600 PMID:22560388
RGD:11073605 , RGD:11073614
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf
tumor necrosis factor
treatment no_association
ISO
DNA:SNP:promoter:-238G>A (human) DNA:SNP:promoter:-308G>A (human)
RGD
PMID:12200397 PMID:12815949
RGD:10449450 , RGD:10449453
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf10b
TNF receptor superfamily member 10b
treatment
ISO
RGD
PMID:16531263
RGD:11038719
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Tnfrsf13b
TNF receptor superfamily member 13B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23955597
NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Tnfrsf17
TNF receptor superfamily member 17
ISO
RGD
PMID:15692072
RGD:2317306
NCBI chr10:4,301,023...4,306,889
Ensembl chr10:4,301,038...4,306,788
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Tnfsf8
TNF superfamily member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9058727
NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Tp53
tumor protein p53
disease_progression treatment
ISO
DNA:polymorphism:cds:p.R72P(human) protein:increased expression:nucleus: DNA:deletion: : ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis
ClinVar RGD
PMID:253702 PMID:960674 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2654466 PMID:3784963 PMID:7478555 PMID:7651740 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7761089 PMID:7791795 PMID:7881428 PMID:7887414 PMID:7969167 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8276238 PMID:8308926 PMID:8364550 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8649776 PMID:8688334 PMID:8718514 PMID:8816796 PMID:9020384 PMID:9047394 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9418900 PMID:9482117 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9635828 PMID:9667734 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10567903 PMID:10589545 PMID:10713666 PMID:10732753 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11315715 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11494139 PMID:11782540 PMID:11793474 PMID:11867759 PMID:11896595 PMID:11904319 PMID:11920959 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12702523 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15138567 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15993273 PMID:16258005 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16793544 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20878954 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21188122 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22265402 PMID:22484423 PMID:22666503 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23264849 PMID:23340422 PMID:23538418 PMID:23612969 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24256616 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25428789 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25952993 PMID:25961455 PMID:26014290 PMID:26022348 PMID:26066407 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26655088 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29666004 PMID:29752822 PMID:29753700 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30093976 PMID:30224644 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31212162 PMID:31559875 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32817165 PMID:32906206 PMID:33372952 PMID:33471991 PMID:33758026 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:36219266 PMID:36988593 PMID:24611901 PMID:22261445 PMID:12745272 More...
RGD:11073716 , RGD:11073728 , RGD:11075073
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Trnt1
tRNA nucleotidyl transferase 1
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
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Tyms
thymidylate synthetase
treatment no_association
ISO
DNA:polymorphism: : DNA:repeats:5'UTR:
RGD
PMID:17512053 PMID:17655928
RGD:11075094 , RGD:11075095
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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Ulk4
unc-51 like kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22120009
NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924
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Vegfa
vascular endothelial growth factor A
susceptibility
ISO
DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human)
RGD
PMID:24687381
RGD:11079182
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xdh
xanthine dehydrogenase
ISO
protein:increased expression:serum
RGD
PMID:32856850
RGD:329955356
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Xpo5
exportin 5
severity
ISO
DNA:snp:3' utr:c.*659A>C (rs11077) (human)
RGD
PMID:22539802
RGD:11041735
NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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Xrcc3
X-ray repair cross complementing 3
disease_progression
ISO
DNA:SNP,haplotype:: p.T241M (rs861535) (Human)
RGD
PMID:17131345
RGD:401827277
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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Xrcc4
X-ray repair cross complementing 4
susceptibility
ISO
DNA:SNPs:multiple (human)
RGD
PMID:17901044
RGD:8698655
NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808
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Xrcc5
X-ray repair cross complementing 5
susceptibility
ISO
DNA:SNP:3'-UTR (human)
RGD
PMID:17901044
RGD:8698655
NCBI chr 9:73,955,216...74,044,020
Ensembl chr 9:73,955,216...74,044,018
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Yap1
Yes1 associated transcriptional regulator
ISO
ClinVar Annotator: match by term: Multiple myeloma
ClinVar
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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Ythdf1
YTH N6-methyladenosine RNA binding protein F1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172
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Yy1
YY1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35038059
NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747
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Arpc1b
actin related protein 2/3 complex, subunit 1B
treatment
ISO
RGD
PMID:22608605
RGD:11046272
NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747
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Asxl1
ASXL transcriptional regulator 1
treatment disease_progression
ISO ISS
ClinVar Annotator: match by term: ASXL1-related condition | ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome OMIM:614286 CTD Direct Evidence: marker/mechanism DNA:mutations:cds:
OMIM ClinVar MouseDO CTD RGD
PMID:16199547 PMID:20880116 PMID:21576631 PMID:21706002 PMID:21881046 PMID:22031865 PMID:22058207 PMID:22237106 PMID:22489043 PMID:23018865 PMID:23619563 PMID:23690417 PMID:24255920 PMID:24442206 PMID:24458439 PMID:24496303 PMID:24695057 PMID:24728327 PMID:25596267 PMID:25652455 PMID:25741868 PMID:27276561 PMID:27895058 PMID:27992414 PMID:28492532 PMID:24045501 PMID:23099237 PMID:24216483 PMID:21576631 More...
RGD:11038769 , RGD:10450876 , RGD:11038712 , RGD:11038707
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Atg7
autophagy related 7
ISS
OMIM:614286
MouseDO
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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Atrx
ATRX, chromatin remodeler
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19157545
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Bap1
BRCA1 associated deubiquitinase 1
ISS
OMIM:614286
MouseDO
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Bcl2l10
Bcl2-like 10
susceptibility treatment
ISO
DNA:SNP:cds:p.Leu21Arg rs2231292)(human)
RGD
PMID:24047476 PMID:21760590
RGD:11058140 , RGD:14392809
NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
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Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24571310
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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Cd40
CD40 molecule
ISO
protein:increased expression:peripheral blood, monocyte (human)
RGD
PMID:17805323
RGD:11520793
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
DNA:deletion: :
RGD
PMID:9171997
RGD:10450601
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
severity
ISO
DNA:hypermethylation: :
RGD
PMID:20658957
RGD:11251750
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2b
cyclin-dependent kinase inhibitor 2B
disease_progression treatment
ISO
DNA:altered methylation: : CTD Direct Evidence: marker/mechanism DNA:hypermethylation: : DNA:altered methylation:promoter:
CTD RGD
PMID:17294728 PMID:20658957 PMID:23683424 PMID:17611569
RGD:11251750 , RGD:11252195 , RGD:11252169
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Cflar
CASP8 and FADD-like apoptosis regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16105982 PMID:14562111
RGD:11341680
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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Crebbp
CREB binding protein
ISS
OMIM:614286
MouseDO
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Csf3r
colony stimulating factor 3 receptor
disease_progression
ISO
DNA:SNP:cds:p.E785K(human) Protein:decreased expression:CD34++ cell:
RGD
PMID:15644419 PMID:12670333
RGD:10450471 , RGD:10450504
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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Ctnna1
catenin alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17330099
NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
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Dapk1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19874806
NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
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Ddx41
DEAD-box helicase 41
ISO
ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome
ClinVar
PMID:25741868 PMID:26712909 PMID:27133828 PMID:27795557 PMID:28492532 PMID:28547672 PMID:30963592 PMID:31484648 PMID:32098966 PMID:33585199 More...
NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
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Ddx42
DEAD-box helicase 42
ISO
mRNA:decreased expression:bone marrow mononuclear cell (human)
RGD
PMID:16211284
RGD:9850279
NCBI chr10:91,148,926...91,180,940
Ensembl chr10:91,148,254...91,180,939
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Dlk1
delta like non-canonical Notch ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18575777
NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
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Dnmt1
DNA methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32431489
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Dnmt3a
DNA methyltransferase 3 alpha
disease_progression
ISO
DNA:mutations:cds: ClinVar Annotator: match by term: Myelodysplastic syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.R882 (human)
ClinVar CTD RGD
PMID:21067377 PMID:21518476 PMID:22160010 PMID:22722925 PMID:22744846 PMID:22898539 PMID:22898541 PMID:24606448 PMID:24622842 PMID:24656771 PMID:25741868 PMID:26619011 PMID:26822784 PMID:26876596 PMID:27317772 PMID:27991732 PMID:28252636 PMID:28432085 PMID:28492532 PMID:28941052 PMID:29900417 PMID:30185810 PMID:30478443 PMID:31582562 PMID:31620784 PMID:31640986 PMID:31961069 PMID:32123902 PMID:32385248 PMID:32431489 PMID:34788385 PMID:21415852 PMID:22066015 More...
RGD:11041122 , RGD:11041124
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Dnmt3b
DNA methyltransferase 3 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32431489
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Egr1
early growth response 1
ISS
OMIM:614286
MouseDO
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Epo
erythropoietin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12670338 PMID:16076383
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Myelodysplastic syndrome
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532 PMID:34209587 PMID:36479692
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
disease_progression
ISO
DNA:SNP: :p.K751Q (rs13181) (human)
RGD
PMID:25154760 PMID:26482462
RGD:11252197 , RGD:11075607
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Etv6
ETS variant transcription factor 6
ISO
DNA:translocation: : DNA:deletion: :
RGD
PMID:12203785 PMID:18476590 PMID:9171997
RGD:1581019 , RGD:10450605 , RGD:10450601
NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
severity
ISO
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:bone marrow, mononuclear cell (human)
CTD RGD
PMID:20601954 PMID:22869879 PMID:21125401
RGD:10450880 , RGD:10450887
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Fas
Fas cell surface death receptor
ISO
mRNA,protein:increased expression:bone marrow: protein:increased expression:peripheral blood mononuclear cell:
RGD
PMID:9557605 PMID:15686130
RGD:11049447 , RGD:11049448
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
ISO
mRNA,protein:increased expression:bone marrow: protein:decreased expression:peripheral blood mononuclear cell:
RGD
PMID:9557605 PMID:15686130
RGD:11049447 , RGD:11049448
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fcgr3a
Fc gamma receptor 3A
ISO
RGD
PMID:24264604
RGD:11352253
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Flt3
Fms related receptor tyrosine kinase 3
ISO
ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia
ClinVar
PMID:22417203
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Gata1
GATA binding protein 1
severity disease_progression
ISO ISS
OMIM:614286 CTD Direct Evidence: marker/mechanism mRNA:increased expression:bone marrow
MouseDO CTD RGD
PMID:28963909 PMID:15572684 PMID:12145700 PMID:17570514
RGD:10450734 , RGD:10450753 , RGD:10450752
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Gata2
GATA binding protein 2
severity susceptibility
ISO
mRNA:increased expression:bone marrow: ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:4508672 PMID:20040766 PMID:21242295 PMID:21670465 PMID:21765025 PMID:21810969 PMID:21892158 PMID:21892162 PMID:22147895 PMID:22271902 PMID:22533337 PMID:23365458 PMID:23502222 PMID:24077845 PMID:24227816 PMID:24266605 PMID:24345756 PMID:25359990 PMID:25619630 PMID:25676417 PMID:25741868 PMID:25879889 PMID:26492932 PMID:26702063 PMID:26812071 PMID:27288520 PMID:27418648 PMID:27577878 PMID:27992414 PMID:28259234 PMID:28492532 PMID:28747912 PMID:28947108 PMID:29588856 PMID:30578959 PMID:31035956 PMID:31246134 PMID:31256854 PMID:31340620 PMID:31350183 PMID:32135276 PMID:33510405 PMID:34576178 PMID:12145700 More...
RGD:10450753
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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Gfi1
growth factor independent 1 transcriptional repressor
ISO
mRNA:decreased expression:bone marrow:
RGD
PMID:18371060
RGD:11040459
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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Gnb1
G protein subunit beta 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelodysplastic syndromes
OMIM CTD ClinVar
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32963807 More...
NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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Gstm1
glutathione S-transferase mu 1
susceptibility treatment
ISO
RGD
PMID:16620556 PMID:15595630
RGD:10450800 , RGD:10450836
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:missense mutation:cds:313A>G (p.I105V)(human)
RGD
PMID:23278642
RGD:10755416
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Gstt1
glutathione S-transferase theta 1
disease_progression no_association
ISO
RGD
PMID:8569364 PMID:23859717 PMID:9164324
RGD:10450772 , RGD:10450840 , RGD:10450779
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hdac1
histone deacetylase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28963909
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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Hfe
homeostatic iron regulator
ISO
DNA:missense mutations:cds:p.H63D, p.C282Y (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17001480 PMID:12624489
RGD:10755559
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Myelodysplastic syndromes
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
disease_progression
ISO
DNA:mutation: : ClinVar Annotator: match by term: Myelodysplastic syndromes
ClinVar RGD
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 PMID:24936872 More...
RGD:11522722
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Myelodysplastic syndromes
ClinVar
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21250968 PMID:21596855 PMID:21647154 PMID:21889589 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:34641967 More...
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Il1b
interleukin 1 beta
ISO
mRNA:increased expression:bone marrow
RGD
PMID:10697556
RGD:10450881
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il2ra
interleukin 2 receptor subunit alpha
ISO
ClinVar Annotator: match by term: Myelodysplasia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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Itgb3
integrin subunit beta 3
ISO
RGD
PMID:16121636
RGD:10755468
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Kmt2e
lysine methyltransferase 2E
ISO
RGD
PMID:18952892
RGD:9588548
NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373
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Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27992414
NCBI chr 4:178,185,418...178,218,484
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Lgr6
leucine-rich repeat-containing G protein-coupled receptor 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32215045
NCBI chr13:46,424,382...46,544,074
Ensembl chr13:46,424,383...46,543,945
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Myelodysplastic syndromes
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Lyl1
LYL1, basic helix-loop-helix family member
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16094422
NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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Macroh2a1
macroH2A.1 histone
ISS
OMIM:614286
MouseDO
NCBI chr17:8,479,331...8,542,071
Ensembl chr17:8,479,372...8,542,072
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Mdm2
MDM2 proto-oncogene
no_association
ISO
DNA:SNP:cds:309T>G(rs2279744)(human)
RGD
PMID:22668018
RGD:11073731
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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Mefv
MEFV innate immunity regulator, pyrin
susceptibility
ISO
DNA:polymorphisms:cds:p.M694V,E148Q(human)
RGD
PMID:22351163
RGD:11531114
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:polymorphism: :66A>G(human)
RGD
PMID:18774170
RGD:11075096
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Mybl2
MYB proto-oncogene like 2
ISS
OMIM:614286
MouseDO
NCBI chr 3:151,705,254...151,733,714
Ensembl chr 3:151,705,288...151,733,708
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10914558
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Npm1
nucleophosmin 1
ISS ISO
OMIM:614286 ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia
MouseDO ClinVar
PMID:15659725 PMID:20026798 PMID:32581362
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
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Nqo1
NAD(P)H quinone dehydrogenase 1
no_association
ISO
DNA:missense mutation:cds:609C>T (p.P187S) (human)
RGD
PMID:23643325
RGD:10769356
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nras
NRAS proto-oncogene, GTPase
disease_progression
ISO
ClinVar Annotator: match by term: Myelodysplastic syndromes
ClinVar RGD
PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:8120410 PMID:10598665 PMID:12460918 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19966803 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21163920 PMID:21263000 PMID:21305640 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:22962325 PMID:23134356 PMID:23325582 PMID:23334668 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23614898 PMID:23708912 PMID:24033266 PMID:24284627 PMID:24806883 PMID:25073507 PMID:25157968 PMID:25741868 PMID:26619011 PMID:26980726 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:29692343 PMID:30417923 PMID:32888943 PMID:33681212 PMID:36130886 PMID:23708912 More...
RGD:11535060
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Plcb1
phospholipase C beta 1
severity treatment
ISO
mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19805378 PMID:16820933 PMID:21109771
RGD:11535164 , RGD:11535956
NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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Pmepa1
prostate transmembrane protein, androgen induced 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32215045
NCBI chr 3:162,011,884...162,060,343
Ensembl chr 3:162,012,751...162,060,454
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Polg
DNA polymerase gamma, catalytic subunit
ISS
OMIM:614286
MouseDO
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Pramex1
PRAME like, X-linked 1
ISO
mRNA:increased expression:bone marrow, blood (human)
RGD
PMID:24763007
RGD:11535028
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Rap1gap
Rap1 GTPase-activating protein
ISO
mRNA:increased expression:bone marrow, mononuclear cells (human)
RGD
PMID:18551404
RGD:9835346
NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
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Runx1
RUNX family transcription factor 1
disease_progression
ISO
DNA:missense mutations, nonsense mutation, frameshift mutations: :multiple ClinVar Annotator: match by term: Myelodysplasia CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:18723428 PMID:25741868 PMID:27992414 PMID:17910630
RGD:11251705
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Samd9
sterile alpha motif domain containing 9
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelodysplastic syndrome
CTD ClinVar
PMID:27182967 PMID:28492532 PMID:30046003
NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322
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Samd9l
sterile alpha motif domain containing 9 like
ISS
OMIM:614286
MouseDO
NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415
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Sf3b1
splicing factor 3b, subunit 1
ISO ISS
OMIM:614286 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia
OMIM MouseDO CTD ClinVar
PMID:21909114 PMID:21995386 PMID:23395771 PMID:25741868
NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Sf3b2
splicing factor 3b, subunit 2
ISO
ClinVar Annotator: match by term: Myelodysplastic syndromes
ClinVar
PMID:26619011
NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
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Slc22a5
solute carrier family 22 member 5
ISO
mRNA:decreased expression:PBMCs (human)
RGD
PMID:12802501
RGD:1580610
NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
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Smpd3
sphingomyelin phosphodiesterase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18283525
NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
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Sphk1
sphingosine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18283525
NCBI chr10:101,758,567...101,764,240
Ensembl chr10:101,758,711...101,764,240
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Srsf11
serine and arginine rich splicing factor 11
ISO
mRNA:splice variant:bone marrow, hematopoietic stem cell (human)
RGD
PMID:24244432
RGD:11038800
NCBI chr 2:247,074,623...247,101,460
Ensembl chr 2:247,074,631...247,101,425
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Srsf2
serine and arginine rich splicing factor 2
ISO ISS
DNA:missense mutations:cds:multiple (human) OMIM:614286
MouseDO RGD
PMID:23280334
RGD:11039052
NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
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Stag2
STAG2 cohesin complex component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27992414
NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677
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Tert
telomerase reverse transcriptase
severity
ISO
mRNA:splice variants:cds ClinVar Annotator: match by term: Myelodysplasia
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:29463756 PMID:33718801 PMID:24844605 PMID:19270495 More...
RGD:11038659 , RGD:11038661
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
severity
ISO
ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: TET2-related condition CTD Direct Evidence: marker/mechanism DNA:mutations:multiple DNA:missense mutations, nonsense mutations, splice-site mutation:multiple
OMIM ClinVar CTD RGD
PMID:19483684 PMID:24728327 PMID:25741868 PMID:27992414 PMID:28492532 PMID:23099237 PMID:20693430 More...
RGD:10450876 , RGD:11038679
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tlr2
toll-like receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28963909
NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tnf
tumor necrosis factor
disease_progression
ISO
protein:increased expression:serum mRNA:increased expression:bone marrow
RGD
PMID:15888251 PMID:10697556
RGD:10450530 , RGD:10450881
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tp53
tumor protein p53
disease_progression treatment no_association
ISO
DNA:mutation: : ClinVar Annotator: match by term: Myelodysplastic syndromes CTD Direct Evidence: marker/mechanism DNA:mutations: : DNA:SNP:cds: p.R72P(rs1042522)(human)
ClinVar CTD RGD
PMID:1565143 PMID:1631137 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8425176 PMID:8527048 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9704930 PMID:9825943 PMID:10089074 PMID:10411893 PMID:10797439 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11920959 PMID:12826609 PMID:14743206 PMID:15004724 PMID:15381368 PMID:15722483 PMID:15825182 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17417627 PMID:17427234 PMID:17606709 PMID:17881637 PMID:18511570 PMID:19367569 PMID:19378321 PMID:19556618 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21445056 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22919068 PMID:22955915 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23538418 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24810334 PMID:25157968 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:27992414 PMID:28152038 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30816478 PMID:31105275 PMID:31127191 PMID:31775759 PMID:32000721 PMID:32187361 PMID:32906206 PMID:33372952 PMID:33471991 PMID:36988593 PMID:24836762 PMID:25412846 PMID:25573287 PMID:22668018 PMID:24043769 More...
RGD:11073714 , RGD:11057925 , RGD:11075071 , RGD:11073731 , RGD:11073729
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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U2af1
U2 small nuclear RNA auxiliary factor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelodysplastic syndrome
CTD ClinVar
PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:25741868 PMID:26619011 More...
NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
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Xrcc1
X-ray repair cross complementing 1
no_association
ISO
DNA:SNP: :p.R280H (human) DNA:SNP: :p.R194W, p.R399Q (human)
RGD
PMID:26482462 PMID:26482462
RGD:11075607 , RGD:11075607
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Zfpm2
zinc finger protein, multitype 2
ISO
RGD
PMID:15705784
RGD:1580640
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Zrsr2
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2
ISO
CTD Direct Evidence: marker/mechanism DNA:missense mutations:multiple (human) DNA:missense mutation:multiple (human)
CTD RGD
PMID:27992414 PMID:28220884 PMID:22343920 PMID:28942350 PMID:25586593
RGD:151347177 , RGD:151232292 , RGD:151232291 , RGD:151232290
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
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Dido1
death inducer-obliterator 1
ISS
MouseDO
NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20601953 PMID:24218139
RGD:11038772
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Asxl1
ASXL transcriptional regulator 1
disease_progression
ISO
DNA:mutation,deletion:exon:2475dupA, 2846_2847del (human) DNA:mutations: :
RGD
PMID:21712540 PMID:23619563
RGD:11038705 , RGD:11038768
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Atg2b
autophagy related 2B
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015
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Bdkrb1
bradykinin receptor B1
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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Bdkrb2
bradykinin receptor B2
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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C6h14orf132
similar to human chromosome 14 open reading frame 132
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
NCBI chr 6:124,365,466...124,398,449
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Calr
calreticulin
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary myelofibrosis DNA:frameshift mutations:cds:p.L367fs*46, p.K385fs*47 (human) DNA:mutations:multiple (human)
OMIM CTD ClinVar RGD
PMID:24325356 PMID:24325359 PMID:25741868 PMID:24997152 PMID:25860380
RGD:11352753 , RGD:11352747
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
ISO
RGD
PMID:23571153
RGD:11252175
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
no_association
ISO
DNA:polymorphism: :p.K751Q (rs13181) (human)
RGD
PMID:23716550
RGD:11252191
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
severity
ISO
DNA:mutations:exons, introns:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20601953 PMID:21921040
RGD:10450870
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Flt3
Fms related receptor tyrosine kinase 3
ISO
mRNA,protein:increased expression:multiple:
RGD
PMID:21487043
RGD:11049484
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Flt3lg
Fms related receptor tyrosine kinase 3 ligand
ISO
protein:increased expression:plasma, CD34+ cell, bone marrow fibroblast:
RGD
PMID:21487043
RGD:11049484
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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Gata1
GATA binding protein 1
ISO ISS
OMIM:254450
MouseDO RGD
PMID:16127162
RGD:10450748
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Gskip
GSK3B interacting protein
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100
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Hfe
homeostatic iron regulator
no_association susceptibility
ISO
DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human) DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human)
RGD
PMID:19258483 PMID:19258483
RGD:10755491 , RGD:10755491
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: Myelofibrosis, somatic
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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Jak2
Janus kinase 2
treatment
ISO ISS
idiopathic myelofibrosis, OMIM:254450 ClinVar Annotator: match by term: Myelofibrosis, somatic CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:16951397 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19154659 PMID:19287382 PMID:19287384 PMID:19287385 PMID:19293426 PMID:19636672 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:21942426 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 PMID:15781101 PMID:22796437 More...
RGD:1627655 , RGD:10449377
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kmt2a
lysine methyltransferase 2A
exacerbates
ISO
DOID:4971DNA:mutations:multiple (human)
RGD
PMID:35731275
RGD:156420157
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO IMP
ClinVar Annotator: match by term: Myelofibrosis with myeloid metaplasia | ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 PMID:16199547 PMID:16470591 PMID:16834459 PMID:16868251 PMID:17666371 PMID:18090929 PMID:18451306 PMID:18528423 PMID:18769448 PMID:19036112 PMID:19388932 PMID:19483125 PMID:19608689 PMID:20113333 PMID:20151976 PMID:20188141 PMID:21326037 PMID:21489838 PMID:23625800 PMID:23970983 PMID:24033266 PMID:24438083 PMID:24728327 PMID:25023898 PMID:25538044 PMID:25741868 PMID:26316487 PMID:28492532 PMID:28823277 PMID:31064749 PMID:31294534 PMID:32703794 PMID:35477182 PMID:19671919 More...
RGD:10449004
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Myb
MYB proto-oncogene, transcription factor
ISS
OMIM:254450
MouseDO
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Ncor2
nuclear receptor co-repressor 2
ISS
OMIM:254450
MouseDO
NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319
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Sh2b3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:20404132 PMID:25741868
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Src
SRC proto-oncogene, non-receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
PMID:25741868 PMID:26936507 PMID:32581362
NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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Tcl1a
Tcl1 family Akt coactivator A
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
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Tgfb1
transforming growth factor, beta 1
treatment
ISO
protein:increased expression:plasma,bone marrow: mRNA:increased expression:spleen,bone marrow:
RGD
PMID:23462118 PMID:23462118 PMID:23462118
RGD:11073609 , RGD:11073609 , RGD:11073609
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tp53
tumor protein p53
disease_progression
ISO
associated with Myelodysplastic Syndromes;
RGD
PMID:26123119
RGD:11073713
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tunar
TCL1 upstream neural differentiation-associated RNA
ISO
ClinVar Annotator: match by term: Primary myelofibrosis
ClinVar
NCBI chr 6:124,245,949...124,293,440
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Rbsn
rabenosyn, RAB effector
ISO
ClinVar Annotator: match by term: MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND OCULAR ABNORMALITIES
ClinVar OMIM
PMID:29784638
NCBI chr 4:124,682,228...124,712,578
Ensembl chr 4:124,683,969...124,712,578
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Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24571310
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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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
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Abl1
ABL proto-oncogene 1, non-receptor tyrosine kinase
disease_progression
ISO
DNA:hypermethylation:promoter
RGD
PMID:19344397 PMID:11559572
RGD:11038809 , RGD:11038811
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Bcr
BCR activator of RhoGEF and GTPase
disease_progression
ISO
RGD
PMID:19344397
RGD:11038809
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
treatment
ISO
DNA:polymorphism:intron :6986A>G (human)
RGD
PMID:23394475
RGD:11353797
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
treatment
ISO
DNA:SNP: :rs11615 (human)
RGD
PMID:22821389
RGD:11252165
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Gfi1
growth factor independent 1 transcriptional repressor
disease_progression
ISO
mRNA,protein:increased expression:mononuclea cell, CD34+ cell
RGD
PMID:19887785 PMID:23411466
RGD:11040457 , RGD:11040461
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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Gfi1b
growth factor independent 1B transcriptional repressor
ISO
mRNA:increased expression:blood:
RGD
PMID:19360458
RGD:11040460
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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Akr1c3
aldo-keto reductase family 1, member C3
ISO
RGD
PMID:1665987
RGD:11552589
NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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Atg2b
autophagy related 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26280900
NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015
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Bcr
BCR activator of RhoGEF and GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22875613
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Calr
calreticulin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29047144
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Cbl
Cbl proto-oncogene
disease_progression
ISO
ClinVar Annotator: match by term: Myeloproliferative disorder DNA:mutations:exons: DNA:mutations:cds:
ClinVar RGD
PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 PMID:20951944 PMID:21828135 PMID:22190897 PMID:22246246 PMID:22733026 PMID:23010802 PMID:23690417 PMID:25178484 PMID:25224413 PMID:25741868 PMID:27069254 PMID:28492532 PMID:29296819 PMID:33318624 PMID:33627783 PMID:20951944 PMID:19387008 PMID:22315494 More...
RGD:11038798 , RGD:11038808 , RGD:11038804
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Cd36
CD36 molecule
ISO
protein:increased expression:platelet, plasma membrane
RGD
PMID:12479587
RGD:11040908
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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Csf1r
colony stimulating factor 1 receptor
ISO
ClinVar Annotator: match by term: Myeloproliferative disorder
ClinVar
PMID:18971950
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Myeloproliferative disorder
ClinVar
PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 PMID:33238114 PMID:34315901 More...
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Egr1
early growth response 1
ISO
RGD
PMID:17420284
RGD:5131859
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Etv6
ETS variant transcription factor 6
ISO
DNA:translocation: :
RGD
PMID:9044825
RGD:10450608
NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
RGD
PMID:22233633
RGD:10450869
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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F3
coagulation factor III, tissue factor
treatment
ISO
RGD
PMID:16959024
RGD:11340218
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Fgfr1
Fibroblast growth factor receptor 1
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21936542 PMID:22875613 PMID:15448205 PMID:12969958
RGD:11352309 , RGD:11352667
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fgfr1op2
FGFR1 oncogene partner 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22875613
NCBI chr 4:179,491,602...179,512,630
Ensembl chr 4:179,491,599...179,512,630
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Myeloproliferative disorder
ClinVar
PMID:8845844 PMID:9438390 PMID:9843049 PMID:11429702 PMID:19088846 PMID:19331127 PMID:19381019 PMID:20301540 PMID:20542753 PMID:21273588 PMID:22869148 PMID:23200862 PMID:24419316 PMID:24476948 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28249712 PMID:28492532 PMID:29593476 PMID:30692697 PMID:31299979 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Flt3
Fms related receptor tyrosine kinase 3
ISO
RGD
PMID:17936561
RGD:11049465
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Gfi1
growth factor independent 1 transcriptional repressor
ISO
RGD
PMID:22932805
RGD:11040453
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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Gfi1b
growth factor independent 1B transcriptional repressor
ISO
mRNA:increased expression:blood:
RGD
PMID:19360458
RGD:11040460
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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Gpx1
glutathione peroxidase 1
ISO
DNA:polymorphism: :p.P198L (human)
RGD
PMID:27077777
RGD:11352761
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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Gskip
GSK3B interacting protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26280900
NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100
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Hspa5
heat shock protein family A (Hsp70) member 5
ISO
RGD
PMID:21937694
RGD:11354915
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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Igf1r
insulin-like growth factor 1 receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35568132
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: Myeloproliferative disorder
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17267906 PMID:17989398 PMID:18256599 PMID:18394554 PMID:18805579 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:19470474 PMID:20339092 PMID:20585391 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22368270 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:22955920 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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Irf4
interferon regulatory factor 4
ISO
RGD
PMID:20585039
RGD:11530030
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Irf8
interferon regulatory factor 8
ISO
RGD
PMID:20585039
RGD:11530030
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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Jak2
Janus kinase 2
severity no_association
ISO
DNA:SNPs:introns: (rs12343867, rs10974944) (human) ClinVar Annotator: match by term: Myeloproliferative disorder CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:p.V617F (human) DNA:SNP:intron: (rs12342421) (human)
ClinVar CTD RGD
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17267906 PMID:17989398 PMID:18256599 PMID:18394554 PMID:18805579 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:19470474 PMID:20339092 PMID:20585391 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22087750 PMID:22368270 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:22955920 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:29047144 PMID:32581362 PMID:35568132 PMID:23845539 PMID:15858187 PMID:23845539 More...
RGD:10449376 , RGD:10449393 , RGD:10449376
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kras
KRAS proto-oncogene, GTPase
ISO
DNA:missense mutation: :p.G12D (mouse)
RGD
PMID:21451123
RGD:11060138
NCBI chr 4:178,185,418...178,218,484
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Mecom
MDS1 and EVI1 complex locus
ISO
DNA:translocation: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:29047144 PMID:9044825
RGD:10450608
NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29047144
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Mthfr
methylenetetrahydrofolate reductase
ISO
DNA:SNPs: :677C>T, 1298A>C (human)
RGD
PMID:23107469
RGD:10449419
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Npm1
nucleophosmin 1
ISO
DNA:insertion mutation:cds:c.854_857dupTCTG(mouse)
RGD
PMID:23226219
RGD:11534989
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
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Nqo1
NAD(P)H quinone dehydrogenase 1
ISO
RGD
PMID:18829548
RGD:10769354
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nqo2
N-ribosyldihydronicotinamide:quinone dehydrogenase 2
ISO
RGD
PMID:12351651
RGD:1331842
NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320
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Nras
NRAS proto-oncogene, GTPase
disease_progression
ISO
RGD
PMID:21586752
RGD:11535055
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Runx1
RUNX family transcription factor 1
ISO
RGD
PMID:15784726
RGD:11251691
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29047144
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29370077
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Zmym2
zinc finger MYM-type containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22875613
NCBI chr15:31,035,835...31,108,945
Ensembl chr15:31,035,838...31,109,357
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Pdgfrb
platelet derived growth factor receptor beta
ISO
ClinVar Annotator: match by term: EOSINOPHILS, MALIGNANT PROLIFERATION OF | ClinVar Annotator: match by term: Myeloproliferative disorder, chronic, with eosinophilia CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25454926 PMID:25741868 PMID:26455322 PMID:28492532 PMID:29226947 PMID:30573803 More...
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Asxl1
ASXL transcriptional regulator 1
ISS
MouseDO
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Csf3r
colony stimulating factor 3 receptor
ISO
RGD
PMID:23897249
RGD:10450501
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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Cux1
cut-like homeobox 1
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm
ClinVar
PMID:25741868
NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866
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Ddx41
DEAD-box helicase 41
susceptibility
ISO
ClinVar Annotator: match by term: DDX41-related condition | ClinVar Annotator: match by term: Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:25920683 PMID:26712909 PMID:27133828 PMID:27174803 PMID:27721487 PMID:27795557 PMID:28492532 PMID:28547672 PMID:30407884 PMID:30963592 PMID:31256854 PMID:31400013 PMID:31470354 PMID:31484648 PMID:31713024 PMID:32054657 PMID:32098966 PMID:32307695 PMID:33585199 PMID:33626862 PMID:33850299 PMID:34492705 PMID:34671111 PMID:35419889 PMID:35443031 PMID:35671390 PMID:35844724 PMID:36322930 PMID:37199125 More...
NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
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Etv6
ETS variant transcription factor 6
ISO
DNA:translocation: :
RGD
PMID:12181402
RGD:10450606
NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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Itpkb
inositol-trisphosphate 3-kinase B
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable
ClinVar
PMID:25741868 PMID:35101336
NCBI chr13:92,069,160...92,164,281
Ensembl chr13:92,069,216...92,162,004
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Jak2
Janus kinase 2
ISS
MouseDO
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm
ClinVar
PMID:16843266 PMID:20372971 PMID:20385788 PMID:22271575 PMID:25157968
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm
ClinVar
PMID:11208730 PMID:11505412 PMID:15837988 PMID:17259998 PMID:19175693 PMID:21689725 PMID:23582185 PMID:24847623 PMID:25157968 PMID:28492532 More...
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm
ClinVar
PMID:14764528 PMID:18451306 PMID:18528423 PMID:19483125 PMID:19608689 PMID:20151976 PMID:21228032 PMID:23970983 PMID:25741868 More...
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable
ClinVar
PMID:10678181 PMID:23460398 PMID:27069254 PMID:28492532 PMID:29872168 PMID:35101336 More...
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Notch1
notch receptor 1
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable
ClinVar
PMID:15472075 PMID:16614245 PMID:19245433 PMID:19635999 PMID:21670202 PMID:22077063 PMID:22210878 PMID:22858860 PMID:23086750 PMID:23734977 PMID:24728327 PMID:24943832 PMID:25741868 PMID:26837699 PMID:28492532 PMID:35101336 More...
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Pdgfra
platelet derived growth factor receptor alpha
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable
ClinVar
PMID:22703879 PMID:22718859 PMID:24728327 PMID:25741868 PMID:28492532 PMID:35101336 More...
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Pdgfrb
platelet derived growth factor receptor beta
ISO ISS
DNA:translocation: :
MouseDO RGD
PMID:12181402
RGD:10450606
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable
ClinVar
PMID:25741868 PMID:28492532 PMID:35101336
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Tcf3
transcription factor 3
ISO
ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable
ClinVar
PMID:25741868 PMID:28492532 PMID:35101336
NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tet2
tet methylcytosine dioxygenase 2
ISO
DNA:missense mutations: :p.R686S (c.2058A>T), p.L1340P (c.4019T>C), p.H1868R (c.5603A>G) (human)
RGD
PMID:19564637
RGD:11038680
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Dnm1l
dynamin 1-like
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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Pus1
pseudouridine synthase 1
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
CTD ClinVar MouseDO
PMID:25741868 PMID:28492532
NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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Yars2
tyrosyl-tRNA synthetase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia
CTD ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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Pus1
pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition
OMIM ClinVar
PMID:7726239 PMID:9536098 PMID:14981724 PMID:15108122 PMID:15772074 PMID:15971356 PMID:17056637 PMID:17576681 PMID:18648068 PMID:19731322 PMID:23707380 PMID:25058219 PMID:25227147 PMID:25741868 PMID:26556812 PMID:27374853 PMID:28492532 More...
NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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Dnm1l
dynamin 1-like
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2
ClinVar
PMID:25741868 PMID:28492532
NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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Yars2
tyrosyl-tRNA synthetase 2
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 2
OMIM ClinVar
PMID:12075011 PMID:20598274 PMID:22504945 PMID:23918765 PMID:24088041 PMID:24344687 PMID:24430573 PMID:25638461 PMID:25741868 PMID:26633545 PMID:26944241 PMID:28492532 PMID:30026338 PMID:33144682 PMID:35393742 More...
NCBI chr11:84,632,350...84,638,138
Ensembl chr11:84,624,369...84,638,125
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Mt-atp6
mitochondrially encoded ATP synthase membrane subunit 6
ISO
ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 3
ClinVar
PMID:25037980 PMID:27812026 PMID:29350304
NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 PMID:19387008 PMID:19571318 PMID:19620960 PMID:19901108 PMID:20543203 PMID:20595524 PMID:20619386 PMID:20694012 PMID:20951944 PMID:20955399 PMID:21828135 PMID:21901340 PMID:22190897 PMID:22246246 PMID:22733026 PMID:23010802 PMID:23690417 PMID:23696637 PMID:23823657 PMID:24033266 PMID:24451042 PMID:24458550 PMID:24463883 PMID:24493670 PMID:24728327 PMID:24803665 PMID:24896146 PMID:25178484 PMID:25224413 PMID:25283271 PMID:25358541 PMID:25533962 PMID:25731833 PMID:25741868 PMID:25939664 PMID:25952305 PMID:26580448 PMID:26676746 PMID:27069254 PMID:27609087 PMID:27784745 PMID:28343148 PMID:28414188 PMID:28492532 PMID:28589114 PMID:28957739 PMID:29177441 PMID:29296819 PMID:31101757 PMID:31333075 PMID:31568572 PMID:31664448 PMID:31935506 PMID:31970404 PMID:32533790 PMID:32933826 PMID:33318624 PMID:33337535 PMID:33550024 PMID:33627783 More...
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
ClinVar
PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 PMID:15389709 PMID:15520399 PMID:16053901 PMID:16358218 PMID:16377799 PMID:16638574 PMID:16679933 PMID:17020470 PMID:18372317 PMID:18849586 PMID:19725129 PMID:19768645 PMID:20301557 PMID:20308328 PMID:21339643 PMID:21747628 PMID:22681964 PMID:22822385 PMID:23673659 PMID:24033266 PMID:24401936 PMID:24775816 PMID:24820750 PMID:24935154 PMID:25731833 PMID:25741868 PMID:25917897 PMID:26337637 PMID:26467025 PMID:26918529 PMID:28483241 PMID:28492532 PMID:29276006 PMID:30311386 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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C3
complement C3
ISO
protein:increased processing:erythrocyte
RGD
PMID:6915939
RGD:11040769
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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C5
complement C5
ISO
ClinVar Annotator: match by term: Eculizumab, poor response to
OMIM ClinVar
PMID:24521109 PMID:25741868 PMID:28492532
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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Cxcr4
C-X-C motif chemokine receptor 4
treatment
ISO
RGD
PMID:22206707
RGD:11352266
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Piga
phosphatidylinositol glycan anchor biosynthesis, class A
ISO
associated with Anemia, Aplastic;DNA:deletion:exon:del662_666GTACT (human) ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:8167330 PMID:8500164 PMID:8541558 PMID:8557259 PMID:9019395 PMID:9233558 PMID:9787183 PMID:10220445 PMID:15720958 PMID:16767100 PMID:12424196 More...
RGD:11087560
NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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Pigt
phosphatidylinositol glycan anchor biosynthesis, class T
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25417052
NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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RT1-Ba
RT1 class II, locus Ba
ISO
DNA:polymorphism, haplotype
RGD
PMID:12070003
RGD:11041765
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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RT1-Bb
RT1 class II, locus Bb
ISO
DNA:polymorphism, haplotype
RGD
PMID:12070003
RGD:11041765
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Piga
phosphatidylinositol glycan anchor biosynthesis, class A
ISO
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
OMIM ClinVar
PMID:2915993 PMID:24706016 PMID:25741868 PMID:28492532 PMID:29159939 PMID:29656098 PMID:31175295 PMID:31618474 PMID:31704190 PMID:32176464 PMID:32220244 PMID:32452540 PMID:32694024 PMID:33333793 PMID:34355501 More...
NCBI chr X:30,043,033...30,055,861
Ensembl chr X:30,042,343...30,055,804
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Pigt
phosphatidylinositol glycan anchor biosynthesis, class T
ISO
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1
ClinVar
PMID:25741868
NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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Pigt
phosphatidylinositol glycan anchor biosynthesis, class T
ISO
ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2
OMIM ClinVar
PMID:23733340 PMID:25741868 PMID:28492532
NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887
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Cd40
CD40 molecule
ISO
RGD
PMID:20616215
RGD:5490532
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:11237381
RGD:11038665
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Ace
angiotensin I converting enzyme
treatment
ISO
RGD
PMID:18339134
RGD:11038827
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Egln1
egl-9 family hypoxia-inducible factor 1
ISO
DNA:missense mutation:exon:p.W334R (c.1000 T>C) (human) DNA:missense mutation: :p.P317R (950C>G) (human) DNA:missense mutations, nonsense mutation: :multiple DNA:missense mutations: :p.N203K, p.K291L, p.K423E (human)
RGD
PMID:24121508 PMID:23859443 PMID:16407130 PMID:21933857 PMID:21828119
RGD:11251767 , RGD:11073369 , RGD:11251771 , RGD:11251769 , RGD:11251768
NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777
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Epas1
endothelial PAS domain protein 1
susceptibility
ISO
DNA:polymorphisms,haplotype: :rs13419896, rs12619696(human) DNA:missense mutation:cds: 2097G>A,p.G537R(human)
RGD
PMID:25792003 PMID:18650473
RGD:11041568 , RGD:11041573
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Epor
erythropoietin receptor
ISO IEP
ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC mRNA,protein:increased expression:CD71 positive bone marrow cell CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1653276 PMID:1954391 PMID:4052634 PMID:7795221 PMID:8093406 PMID:8174675 PMID:8506290 PMID:8608241 PMID:9292543 PMID:9394420 PMID:9488636 PMID:9649565 PMID:10498627 PMID:16484586 PMID:17488692 PMID:24115288 PMID:25741868 PMID:26010769 PMID:27993330 PMID:28492532 PMID:11158582 PMID:27587253 PMID:8400289 More...
RGD:734937 , RGD:149735329 , RGD:11041647
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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Gata1
GATA binding protein 1
IEP
mRNA,protein:increased expression:CD71 positive bone marrow cell
RGD
PMID:27587253
RGD:149735329
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Gh1
growth hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15161484
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Hba-a2
hemoglobin alpha, adult chain 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HEMOGLOBIN G (PEST)
CTD ClinVar
PMID:893135 PMID:1634355 PMID:2227935 PMID:4550395 PMID:6814490 PMID:25818820 PMID:26467025 PMID:26635043 More...
NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392
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Hba-a3
hemoglobin alpha, adult chain 3
ISO
ClinVar Annotator: match by term: HEMOGLOBIN INKSTER | ClinVar Annotator: match by term: HEMOGLOBIN J (BUDA)
ClinVar
PMID:2227935 PMID:2752146 PMID:4212045 PMID:4550395 PMID:7803274 PMID:11186265 PMID:26467025 More...
NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481
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Hbb
hemoglobin subunit beta
ISO
DNA:point mutation:CDS:p.P100L (human ClinVar Annotator: match by term: Erythrocytosis | ClinVar Annotator: match by term: HEMOGLOBIN PUTTELANGE | ClinVar Annotator: match by term: HEMOGLOBIN SAN DIEGO | ClinVar Annotator: match by term: HEMOGLOBIN SHERWOOD FOREST | ClinVar Annotator: match by term: HEMOGLOBIN SOUTH MILWAUKEE | ClinVar Annotator: match by term: HEMOGLOBIN TAK CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:590504 PMID:604313 PMID:1117598 PMID:1201208 PMID:2363414 PMID:2703368 PMID:3957694 PMID:4101432 PMID:4808644 PMID:4808645 PMID:6863429 PMID:7161106 PMID:7204093 PMID:7295777 PMID:7417488 PMID:7615400 PMID:7918091 PMID:8144354 PMID:8522332 PMID:9494047 PMID:10846826 PMID:11167851 PMID:12621249 PMID:15768557 PMID:15921161 PMID:18793248 PMID:18818920 PMID:19429541 PMID:19460936 PMID:20353352 PMID:20353353 PMID:20395516 PMID:20838957 PMID:22145566 PMID:23859443 PMID:24200101 PMID:25741868 PMID:26467025 PMID:26544676 PMID:27651169 PMID:28492532 PMID:29790589 PMID:30423154 PMID:31304856 PMID:32925409 PMID:4719677 More...
RGD:1600891
NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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Jak2
Janus kinase 2
ISO
ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17267906 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 PMID:19413997 PMID:15793561 More...
RGD:10449378 , RGD:10449392
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Serpine1
serpin family E member 1
IEP
associated with Anoxia;mRNA:increased expression:heart right ventricle, heart left ventricle (rat)
RGD
PMID:9405184
RGD:11080746
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sh2b3
SH2B adaptor protein 3
ISO
ClinVar Annotator: match by term: ERYTHROCYTOSIS, SOMATIC
ClinVar
PMID:15705783 PMID:20843259 PMID:25741868 PMID:27651169 PMID:28484264 PMID:29590070 More...
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Slc30a10
solute carrier family 30, member 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22926781
NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Polycythemia
ClinVar RGD
PMID:15642680 PMID:25637381 PMID:25741868 PMID:28492532 PMID:16210343
RGD:1580368
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Polycythemia rubra vera
ClinVar
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Bcl2l1
Bcl2-like 1
ISO
protein:increased expression:bone marrow, erythroid cell (human)
RGD
PMID:9475763
RGD:11353849
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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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
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Elane
elastase, neutrophil expressed
ISO IMP
protein:increased expression:plasma:
RGD
PMID:18768782 PMID:12186827
RGD:10450556 , RGD:10450557
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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Epor
erythropoietin receptor
ISO
mRNA:decreased expression:blood cell:
RGD
PMID:9207443
RGD:11041603
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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Gsr
glutathione-disulfide reductase
ISO
protein:increased activity:erythrocyte:
RGD
PMID:8569275
RGD:11059504
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
RGD
PMID:22018952
RGD:10450875
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Hba-a2
hemoglobin alpha, adult chain 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1634355
NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392
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Hbb
hemoglobin subunit beta
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: HEMOGLOBIN VILLEJUIF
CTD ClinVar
PMID:2816924 PMID:5773089 PMID:11300351 PMID:19429541 PMID:26467025 PMID:31553106 More...
NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
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Hfe
homeostatic iron regulator
susceptibility no_association
ISO
DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human) DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human)
RGD
PMID:19258483 PMID:19258483
RGD:10755491 , RGD:10755491
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: Polycythemia rubra vera
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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Jak1
Janus kinase 1
ISO
ClinVar Annotator: match by term: Polycythemia rubra vera
ClinVar
PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:21436584 PMID:21680795 More...
NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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Jak2
Janus kinase 2
ISO ISS
ClinVar Annotator: match by term: Polycythemia rubra vera OMIM:263300 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16484586 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17267906 PMID:17989398 PMID:18256599 PMID:18394554 PMID:18717827 PMID:19036091 PMID:19074595 PMID:19154659 PMID:19287382 PMID:19287384 PMID:19293426 PMID:20160369 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:21942426 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 PMID:15781101 More...
RGD:1627655
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Abtb1
ankyrin repeat and BTB domain containing 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,299,302...121,305,667
Ensembl chr 4:121,299,304...121,305,620
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Acad11
acyl-CoA dehydrogenase family, member 11
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,681,346...104,746,559
Ensembl chr 8:104,681,396...104,746,560
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Acad9
acyl-CoA dehydrogenase family, member 9
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 More...
NCBI chr 2:118,943,170...118,966,150
Ensembl chr 2:118,943,174...118,966,547
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Ackr4
atypical chemokine receptor 4
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,716,537...104,720,972
Ensembl chr 8:104,716,067...104,723,617
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Acp3
acid phosphatase 3
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,905,570...104,956,146
Ensembl chr 8:104,905,586...104,954,236
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Adcy5
adenylate cyclase 5
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974
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Aldh1l1
aldehyde dehydrogenase 1 family, member L1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465
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Amotl2
angiomotin like 2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,303,368...103,319,161
Ensembl chr 8:103,302,992...103,318,910
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Anapc13
anaphase promoting complex subunit 13
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,205,520...103,213,936
Ensembl chr 8:103,205,520...103,213,936
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Aste1
asteroid homolog 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:106,026,570...106,044,694
Ensembl chr 8:106,026,515...106,044,430
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Atp2c1
ATPase secretory pathway Ca2+ transporting 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868 PMID:28492532
NCBI chr 8:106,034,777...106,155,854
Ensembl chr 8:106,034,636...106,156,006
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Bfsp2
beaded filament structural protein 2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,006,226...104,063,399
Ensembl chr 8:104,006,226...104,063,399
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C4h3orf22
similar to human chromosome 3 open reading frame 22
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,817,681...122,822,175
Ensembl chr 4:122,817,681...122,822,175
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Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
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Ccdc14
coiled-coil domain containing 14
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,052,063...66,087,915
Ensembl chr11:66,052,620...66,087,956
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Cd86
CD86 molecule
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cdv3
carnitine deficiency-associated gene expressed in ventricle 3
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,934,006...103,947,173
Ensembl chr 8:103,933,996...103,947,192
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Cep63
centrosomal protein 63
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,162,639...103,214,177
Ensembl chr 8:103,162,700...103,214,177
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Cfap100
cilia and flagella associated protein 100
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,914,693...122,938,994
Ensembl chr 4:122,914,698...122,938,580
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Cfap92
cilia and flagella associated protein 92
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,126,565...120,181,575
Ensembl chr 4:120,126,567...120,181,546
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Chchd6
coiled-coil-helix-coiled-coil-helix domain containing 6
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:121,803,501...122,024,209
Ensembl chr 4:121,792,717...122,024,216
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Chst13
carbohydrate sulfotransferase 13
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,824,022...122,837,940
Ensembl chr 4:122,824,022...122,838,019
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Cnbp
CCHC-type zinc finger, nucleic acid binding protein
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,302,768...120,311,694
Ensembl chr 4:120,302,771...120,311,637
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Col6a5
collagen type VI alpha 5 chain
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868 PMID:28492532
NCBI chr 8:106,483,806...106,584,114
Ensembl chr 8:106,483,799...106,584,113
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Col6a6
collagen type VI alpha 6 chain
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868 PMID:28492532
NCBI chr 8:106,318,010...106,473,419
Ensembl chr 8:106,306,422...106,473,472
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Copg1
COPI coat complex subunit gamma 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,366,540...120,392,502
Ensembl chr 4:120,366,542...120,415,616
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Cpne4
copine 4
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:105,177,376...105,653,075
Ensembl chr 8:105,177,376...105,653,068
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Csta
cystatin A
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
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Dnajb8
DnaJ heat shock protein family (Hsp40) member B8
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:2322343 PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:29146883 PMID:29724903 PMID:31710708 More...
NCBI chr 4:120,681,918...120,685,108
Ensembl chr 4:120,681,926...120,687,552
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Dnajc13
DnaJ heat shock protein family (Hsp40) member C13
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317
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Dtx3l
deltex E3 ubiquitin ligase 3L
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,814,926...64,824,539
Ensembl chr11:64,814,926...64,824,538
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Eaf2
ELL associated factor 2
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,960,200...64,004,610
Ensembl chr11:63,960,200...64,004,610
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Eefsec
eukaryotic elongation factor, selenocysteine-tRNA-specific
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:31710708 More...
NCBI chr 4:120,719,616...120,915,779
Ensembl chr 4:120,707,133...120,915,779
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Efcab12
EF-hand calcium binding domain 12
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:148,869,381...148,892,922
Ensembl chr 4:148,869,387...148,890,560
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Efcc1
EF-hand and coiled-coil domain containing 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,188,202...120,223,464
Ensembl chr 4:120,188,470...120,217,516
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Ephb1
Eph receptor B1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:102,507,549...102,944,839
Ensembl chr 8:102,507,549...102,944,839
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Fam162a
family with sequence similarity 162, member A
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,680,978...64,709,865
Ensembl chr11:64,680,323...64,711,239
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Fbxo40
F-box protein 40
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,794,452...63,812,697
Ensembl chr11:63,794,624...63,812,697
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Fstl1
follistatin-like 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:62,895,391...62,948,581
Ensembl chr11:62,779,783...62,948,677
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Gata2
GATA binding protein 2
susceptibility
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar OMIM
PMID:453969 PMID:2322343 PMID:2543925 PMID:4508672 PMID:8701948 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18250304 PMID:19449416 PMID:20040766 PMID:20803646 PMID:21242295 PMID:21670465 PMID:21765025 PMID:21810969 PMID:21816832 PMID:21892158 PMID:21892162 PMID:21956389 PMID:22147895 PMID:22271902 PMID:22430350 PMID:22533337 PMID:22649106 PMID:22996659 PMID:23223431 PMID:23365458 PMID:23443460 PMID:23502222 PMID:23560626 PMID:23563236 PMID:23728141 PMID:24033149 PMID:24033266 PMID:24077845 PMID:24167460 PMID:24227816 PMID:24266605 PMID:24345756 PMID:24359037 PMID:24514424 PMID:24578498 PMID:24728327 PMID:24754962 PMID:24782121 PMID:25239263 PMID:25241285 PMID:25326637 PMID:25359990 PMID:25619630 PMID:25624456 PMID:25676417 PMID:25741868 PMID:25879889 PMID:25955867 PMID:26022708 PMID:26214525 PMID:26264606 PMID:26445707 PMID:26492932 PMID:26660446 PMID:26702063 PMID:26710799 PMID:26716079 PMID:26748574 PMID:26767875 PMID:26812071 PMID:27013649 PMID:27069254 PMID:27232273 PMID:27266944 PMID:27276561 PMID:27288520 PMID:27375010 PMID:27389056 PMID:27416790 PMID:27418648 PMID:27577878 PMID:27680514 PMID:27799394 PMID:27876779 PMID:27894982 PMID:27924436 PMID:28066994 PMID:28104920 PMID:28126493 PMID:28209719 PMID:28234738 PMID:28259234 PMID:28271814 PMID:28373026 PMID:28440875 PMID:28485484 PMID:28492532 PMID:28602958 PMID:28642594 PMID:28654364 PMID:28747912 PMID:28825694 PMID:28873162 PMID:28947108 PMID:29146883 PMID:29146900 PMID:29156497 PMID:29178327 PMID:29189513 PMID:29230432 PMID:29279357 PMID:29365323 PMID:29588856 PMID:29680795 PMID:29724903 PMID:29797310 PMID:29882021 PMID:29906362 PMID:29947977 PMID:30030275 PMID:30101490 PMID:30190467 PMID:30280306 PMID:30564229 PMID:30578959 PMID:30620726 PMID:30697248 PMID:30802360 PMID:30894283 PMID:31035956 PMID:31106410 PMID:31203817 PMID:31245276 PMID:31256854 PMID:31309983 PMID:31340620 PMID:31350183 PMID:31710708 PMID:31732620 PMID:31753093 PMID:31785092 PMID:31958074 PMID:32088370 PMID:32098966 PMID:32135276 PMID:32488879 PMID:32497548 PMID:32555368 PMID:32682923 PMID:32865708 PMID:32888943 PMID:32914014 PMID:33363905 PMID:33370941 PMID:33417088 PMID:33510405 PMID:33560389 PMID:33684095 PMID:33715335 PMID:33759087 PMID:33957466 PMID:34051752 PMID:34387894 PMID:34469508 PMID:34529785 PMID:34619682 PMID:34670919 PMID:34893945 PMID:35181392 PMID:35753512 More...
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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Golgb1
golgin B1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770
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Gp9
glycoprotein IX (platelet)
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,235,500...120,237,110
Ensembl chr 4:120,235,421...120,237,110
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Gtf2e1
general transcription factor IIE subunit 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,182,073...63,215,349
Ensembl chr11:63,182,349...63,213,942
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H1f10
H1.10 linker histone
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,440,515...120,441,578
Ensembl chr 4:120,440,870...120,441,448
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H1f8
H1.8 linker histone
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:148,993,133...148,998,254
Ensembl chr 4:148,993,133...148,998,254
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Hacd2
3-hydroxyacyl-CoA dehydratase 2
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:65,667,671...65,762,903
Ensembl chr11:65,670,281...65,762,889
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Hcls1
hematopoietic cell specific Lyn substrate 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,817,482...63,840,943
Ensembl chr11:63,817,476...63,841,014
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Heg1
heart development protein with EGF-like domains 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:67,006,954...67,095,020
Ensembl chr11:66,957,190...67,095,051
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Hgd
homogentisate 1, 2-dioxygenase
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,086,750...63,138,325
Ensembl chr11:63,086,752...63,138,323
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Hmces
5-hydroxymethylcytosine binding, ES cell specific
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,392,812...120,415,616
Ensembl chr 4:120,366,542...120,415,616
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Hspbap1
HSPB1 associated protein 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,940,089...64,994,753
Ensembl chr11:64,940,091...64,994,756
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Ift122
intraflagellar transport 122
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
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Il20rb
interleukin 20 receptor subunit beta
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:100,979,085...101,010,829
Ensembl chr 8:100,980,383...101,009,942
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Ildr1
immunoglobulin-like domain containing receptor 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
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Iqcb1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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Isy1
ISY1 splicing factor homolog
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,276,535...120,297,227
Ensembl chr 4:120,276,292...120,297,188
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Itgb5
integrin subunit beta 5
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,828,428...66,944,231
Ensembl chr11:66,829,285...66,944,472
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Kalrn
kalirin, RhoGEF kinase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,198,155...66,803,166
Ensembl chr11:66,198,173...66,797,610
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Kbtbd12
kelch repeat and BTB domain containing 12
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,014,636...121,088,701
Ensembl chr 4:121,016,257...121,088,443
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Klf15
KLF transcription factor 15
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,965,718...122,978,403
Ensembl chr 4:122,965,807...122,978,374
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Kpna1
karyopherin subunit alpha 1
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,715,844...64,774,647
Ensembl chr11:64,717,563...64,774,623
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Ky
kyphoscoliosis peptidase
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,086,959...103,126,305
Ensembl chr 8:103,086,630...103,126,024
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Mbd4
methyl-CpG binding domain 4 DNA glycosylase
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
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Mcm2
minichromosome maintenance complex component 2
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,346,434...121,360,962
Ensembl chr 4:121,346,434...121,360,847
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Mgll
monoglyceride lipase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,192,186...121,294,187
Ensembl chr 4:121,192,195...121,294,179
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Mix23
mitochondrial matrix import factor 23
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,660,711...64,681,000
Ensembl chr11:64,660,711...64,681,000
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Mrpl3
mitochondrial ribosomal protein L3
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:105,670,184...105,693,544
Ensembl chr 8:105,670,184...105,693,544
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Msl2
MSL complex subunit 2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,676,605...101,702,818
Ensembl chr 8:101,676,765...101,763,833
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Muc13
mucin 13, cell surface associated
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,957,208...66,980,264
Ensembl chr11:66,960,595...66,984,727
G
Mylk
myosin light chain kinase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Nck1
NCK adaptor protein 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,018,610...101,079,237
Ensembl chr 8:101,018,702...101,079,300
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Ndufb4
NADH:ubiquinone oxidoreductase subunit B4
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,063,723...63,070,426
Ensembl chr11:63,063,795...63,070,425
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Nek11
NIMA-related kinase 11
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:105,767,230...106,026,676
Ensembl chr 8:105,770,548...106,026,676
G
Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
G
Nudt16
nudix hydrolase 16
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:105,739,927...105,741,982
Ensembl chr 8:105,739,623...105,741,998
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Osbpl11
oxysterol binding protein-like 11
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:67,533,669...67,616,795
Ensembl chr11:67,533,672...67,596,444
G
Parp14
poly (ADP-ribose) polymerase family, member 14
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,902,848...64,934,916
Ensembl chr11:64,902,785...64,934,916
G
Parp9
poly (ADP-ribose) polymerase family, member 9
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,780,977...64,814,995
Ensembl chr11:64,780,981...64,815,455
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Pccb
propionyl-CoA carboxylase subunit beta
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,591,218...101,641,213
Ensembl chr 8:101,590,737...101,641,234
G
Pdia5
protein disulfide isomerase family A, member 5
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:65,272,152...65,359,087
Ensembl chr11:65,272,155...65,359,084
G
Pik3r4
phosphoinositide-3-kinase, regulatory subunit 4
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868 PMID:28492532
NCBI chr 8:106,267,908...106,316,585
Ensembl chr 8:106,267,954...106,316,584
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Plxna1
plexin A1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,737,934...121,782,901
Ensembl chr 4:121,737,945...122,024,196
G
Plxnd1
plexin D1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:149,002,786...149,043,097
Ensembl chr 4:149,002,784...149,043,244
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Podxl2
podocalyxin-like 2
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,306,224...121,338,070
Ensembl chr 4:121,306,224...121,338,112
G
Polq
DNA polymerase theta
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,673,796...63,775,905
Ensembl chr11:63,673,816...63,775,878
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Ppp2r3a
protein phosphatase 2, regulatory subunit B'', alpha
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,703,512...101,841,530
Ensembl chr 8:101,704,778...101,841,502
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Rab43
RAB43, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:120,249,650...120,269,174
Ensembl chr 4:120,249,879...120,269,174
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Rab6b
RAB6B, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,695,328...103,764,023
Ensembl chr 8:103,695,631...103,805,732
G
Rab7a
RAB7A, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:31710708 More...
NCBI chr 4:120,461,966...120,510,756
Ensembl chr 4:120,461,963...120,506,889
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Rabl3
RAB, member of RAS oncogene family-like 3
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,153,281...63,182,240
Ensembl chr11:63,152,792...63,182,671
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Rho
rhodopsin
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
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Ropn1
rhophilin associated tail protein 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,097,854...66,127,148
Ensembl chr11:66,097,856...66,127,148
G
Rpn1
ribophorin I
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 PMID:31710708 More...
NCBI chr 4:120,543,667...120,565,069
Ensembl chr 4:120,543,667...120,565,069
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Ruvbl1
RuvB-like AAA ATPase 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 More...
NCBI chr 4:120,932,486...120,967,400
Ensembl chr 4:120,932,417...121,029,384
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Ryk
receptor-like tyrosine kinase
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,419,338...103,492,083
Ensembl chr 8:103,419,275...103,491,698
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Sec22a
SEC22 homolog A, vesicle trafficking protein
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:65,402,583...65,462,329
Ensembl chr11:65,402,684...65,462,319
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Sec61a1
SEC61 translocon subunit alpha 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:21670465 PMID:22147895 PMID:23223431 PMID:25741868 PMID:26710799 PMID:28492532 More...
NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
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Sema5b
semaphorin 5B
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:65,102,532...65,225,456
Ensembl chr11:65,102,031...65,225,311
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Slc12a8
solute carrier family 12, member 8
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:67,116,876...67,266,548
Ensembl chr11:67,116,877...67,266,834
G
Slc15a2
solute carrier family 15 member 2
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,014,182...64,043,228
Ensembl chr11:64,014,182...64,043,225
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Slc35g2
solute carrier family 35, member G2
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,085,579...101,113,339
Ensembl chr 8:101,085,545...101,113,349
G
Slc41a3
solute carrier family 41, member 3
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:123,109,555...123,154,766
Ensembl chr 4:123,112,748...123,154,766
G
Slc49a4
solute carrier family 49 member 4
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,995,629...65,068,929
Ensembl chr11:64,995,679...65,068,926
G
Slco2a1
solute carrier organic anion transporter family, member 2a1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,588,916...103,672,546
Ensembl chr 8:103,588,916...103,672,546
G
Snx4
sorting nexin 4
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:67,460,872...67,518,143
Ensembl chr11:67,460,870...67,518,174
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Srprb
SRP receptor subunit beta
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,768,685...103,782,632
G
Stag1
STAG1 cohesin complex component
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:101,179,039...101,564,684
Ensembl chr 8:101,179,039...101,564,677
G
Stxbp5l
syntaxin binding protein 5L
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:63,334,667...63,654,270
Ensembl chr11:63,334,667...63,657,014
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Tf
transferrin
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,789,780...103,816,487
Ensembl chr 8:103,767,995...103,816,511
G
Tmcc1
transmembrane and coiled-coil domain family 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:149,069,252...149,239,585
Ensembl chr 4:149,069,260...149,239,620
G
Tmem108
transmembrane protein 108
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,066,081...104,360,172
Ensembl chr 8:104,066,078...104,360,094
G
Topbp1
DNA topoisomerase II binding protein 1
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:103,887,805...103,931,662
Ensembl chr 8:103,887,865...103,931,674
G
Tpra1
transmembrane protein adipocyte associated 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:121,364,093...121,375,275
Ensembl chr 4:121,364,091...121,375,269
G
Trh
thyrotropin releasing hormone
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799 PMID:28492532
NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
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Txnrd3
thioredoxin reductase 3
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,072,548...122,112,493
Ensembl chr 4:122,072,548...122,112,491
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Uba5
ubiquitin-like modifier activating enzyme 5
ISO
ClinVar Annotator: match by term: Emberger syndrome
ClinVar
PMID:22147895 PMID:25741868
NCBI chr 8:104,665,241...104,680,915
Ensembl chr 8:104,665,046...104,680,894
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Umps
uridine monophosphate synthetase
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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Uroc1
urocanate hydratase 1
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,844,933...122,876,584
Ensembl chr 4:122,844,926...122,876,591
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Wdr5b
WD repeat domain 5B
ISO
ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868
NCBI chr11:64,710,945...64,712,804
Ensembl chr11:64,710,355...64,712,807
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Zfp148
zinc finger protein 148
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr11:67,276,455...67,385,803
Ensembl chr11:67,281,707...67,385,772
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Zxdc
ZXD family zinc finger C
ISO
ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia
ClinVar
PMID:19449416 PMID:22147895 PMID:25741868 PMID:26710799
NCBI chr 4:122,882,389...122,914,486
Ensembl chr 4:122,882,336...122,916,496
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Egln1
egl-9 family hypoxia-inducible factor 1
ISO
ClinVar Annotator: match by term: Familial erythrocytosis
ClinVar
NCBI chr19:52,867,900...52,907,308
Ensembl chr19:52,869,486...52,907,777
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Epas1
endothelial PAS domain protein 1
ISO
ClinVar Annotator: match by term: Familial erythrocytosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:7,790,236...7,871,717
Ensembl chr 6:7,790,647...7,871,228
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Epor
erythropoietin receptor
ISO
ClinVar Annotator: match by term: Familial erythrocytosis
ClinVar
PMID:25741868
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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Hbb
hemoglobin subunit beta
ISO
ClinVar Annotator: match by term: HEMOGLOBIN JOHNSTOWN | ClinVar Annotator: match by term: HEMOGLOBIN NEW MEXICO
ClinVar
PMID:19257 PMID:2272838 PMID:11074558 PMID:15658189 PMID:17952198 PMID:22563907 PMID:26467025 More...
NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
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Tert
telomerase reverse transcriptase
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1
OMIM ClinVar
PMID:15814878 PMID:15885610 PMID:16199547 PMID:16247010 PMID:16627250 PMID:17264120 PMID:17392301 PMID:17460043 PMID:18042801 PMID:18460650 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20022961 PMID:20301779 PMID:20502709 PMID:20966039 PMID:21258621 PMID:21436073 PMID:21483807 PMID:21520173 PMID:21635204 PMID:21931702 PMID:22364217 PMID:22476886 PMID:22512499 PMID:22664374 PMID:22853774 PMID:23335200 PMID:23538340 PMID:23716176 PMID:23901009 PMID:24033266 PMID:24833766 PMID:24983628 PMID:25108601 PMID:25365545 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26158642 PMID:26365799 PMID:27354474 PMID:27540018 PMID:27622320 PMID:27836952 PMID:27848944 PMID:28102861 PMID:28104920 PMID:28154186 PMID:28492532 PMID:28677271 PMID:28813500 PMID:29036293 PMID:29146883 PMID:29483670 PMID:29625052 PMID:30203795 PMID:30523342 PMID:31268371 PMID:34019641 PMID:35776903 More...
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Terc
telomerase RNA component
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 2 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
OMIM ClinVar
PMID:12090986 PMID:12676774 PMID:12972604 PMID:14630445 PMID:15082312 PMID:15098033 PMID:15319288 PMID:17392301 PMID:17640862 PMID:18753630 PMID:19760749 PMID:20022961 PMID:21436073 PMID:21844345 PMID:21931702 PMID:22341970 PMID:24033266 PMID:24763404 PMID:25612863 PMID:25741868 PMID:26024875 PMID:28492532 PMID:29146883 PMID:29483670 PMID:30426156 More...
NCBI chr 2:112,815,654...112,816,041
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Eef1a2
eukaryotic translation elongation factor 1 alpha 2
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,265,893...168,275,071
Ensembl chr 3:168,195,357...168,275,071
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Fndc11
fibronectin type III domain containing 11
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,330,607...168,333,111
Ensembl chr 3:168,330,602...168,334,617
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Gmeb2
glucocorticoid modulatory element binding protein 2
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,362,650...168,400,788
Ensembl chr 3:168,362,650...168,400,788
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Helz2
helicase with zinc finger 2
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,338,813...168,353,219
Ensembl chr 3:168,338,813...168,353,159
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Kcnq2
potassium voltage-gated channel subfamily Q member 2
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,194,776...168,253,831
Ensembl chr 3:168,195,357...168,275,071
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Ppdpf
pancreatic progenitor cell differentiation and proliferation factor
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,299,309...168,301,040
Ensembl chr 3:168,299,791...168,301,036
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Ptk6
protein tyrosine kinase 6
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,307,073...168,315,664
Ensembl chr 3:168,307,073...168,315,664
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Rtel1
regulator of telomere elongation helicase 1
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
OMIM ClinVar
PMID:9536098 PMID:14534157 PMID:16199547 PMID:17576681 PMID:19822871 PMID:23329068 PMID:23453664 PMID:23692823 PMID:23829372 PMID:23959892 PMID:24009516 PMID:24033266 PMID:24130156 PMID:24582487 PMID:25047097 PMID:25099625 PMID:25326637 PMID:25607374 PMID:25620558 PMID:25741868 PMID:25848748 PMID:26022962 PMID:26025130 PMID:26136524 PMID:26847928 PMID:27128385 PMID:27415407 PMID:27779742 PMID:28099038 PMID:28104920 PMID:28492532 PMID:28495916 PMID:28930861 PMID:28979815 PMID:29146883 PMID:29296694 PMID:29344583 PMID:30060175 PMID:30462709 PMID:30523160 PMID:30523342 PMID:30995915 PMID:31785789 PMID:33718801 PMID:34021146 PMID:36655009 PMID:37392813 More...
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Srms
src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,318,511...168,324,915
Ensembl chr 3:168,318,512...168,324,915
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Stmn3
stathmin 3
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 3
ClinVar
PMID:14534157 PMID:19822871 PMID:23453664 PMID:23692823 PMID:23959892 PMID:25607374 PMID:27779742 PMID:28492532 More...
NCBI chr 3:168,416,810...168,424,946
Ensembl chr 3:168,416,810...168,425,056
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Parn
poly(A)-specific ribonuclease
ISO
ClinVar Annotator: match by term: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4
OMIM ClinVar
PMID:9736620 PMID:16199547 PMID:16281054 PMID:22834816 PMID:25741868 PMID:25848748 PMID:26342108 PMID:26482878 PMID:26810774 PMID:28192371 PMID:28414520 PMID:28492532 PMID:28495692 PMID:31448843 PMID:34298581 PMID:35982159 More...
NCBI chr10:1,410,636...1,548,573
Ensembl chr10:1,410,642...1,548,560
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Zcchc8
zinc finger CCHC-type containing 8
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:31488579
NCBI chr12:32,869,170...32,892,707
Ensembl chr12:32,869,310...32,891,325
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Rpa1
replication protein A1
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6 | ClinVar Annotator: match by term: RPA1-related short telomere syndrome
OMIM ClinVar
PMID:25741868 PMID:34767620
NCBI chr10:60,148,869...60,199,970
Ensembl chr10:60,148,793...60,199,949
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Naf1
nuclear assembly factor 1 ribonucleoprotein
ISO
ClinVar Annotator: match by term: NAF1-related condition | ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
OMIM ClinVar
PMID:25741868 PMID:27510903 PMID:28492532
NCBI chr16:22,837,583...22,868,320
Ensembl chr16:22,837,588...22,868,293
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Pot1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
ClinVar OMIM
PMID:35420632
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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Nop10
NOP10 ribonucleoprotein
ISO
ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
OMIM ClinVar
PMID:32139460
NCBI chr 3:99,066,857...99,067,942
Ensembl chr 3:99,066,857...99,067,942
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Hamp
hepcidin antimicrobial peptide
IEP
mRNA:increased expression:liver
RGD
PMID:25580431
RGD:11041717
NCBI chr 1:86,170,926...86,172,865
Ensembl chr 1:86,170,901...86,172,891
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphisms, haplotype:cds:HLA-DQB1*0309 (human)
RGD
PMID:18689790
RGD:11041748
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphisms, haplotype:cds:HLA-DRB1*09 (human)
RGD
PMID:18689790
RGD:11041748
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Birc5
baculoviral IAP repeat-containing 5
ISO
RGD
PMID:18426652
RGD:11038658
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Flt3lg
Fms related receptor tyrosine kinase 3 ligand
ISO
protein:increased expression:serum:
RGD
PMID:10214861
RGD:11049479
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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Hfe
homeostatic iron regulator
no_association
ISO
associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human) associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human)
RGD
PMID:17654685 PMID:17654685
RGD:10755539 , RGD:10755539
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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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
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:18426652
RGD:11038658
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10870480
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Ybx1
Y box binding protein 1
ISO
RGD
PMID:14604279
RGD:1580637
NCBI chr 5:132,882,137...132,898,885
Ensembl chr 5:132,882,145...132,898,862
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Birc5
baculoviral IAP repeat-containing 5
ISO
RGD
PMID:18426652
RGD:11038658
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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C3
complement C3
disease_progression
ISO
RGD
PMID:9741227
RGD:11041158
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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Cfb
complement factor B
disease_progression
ISO
RGD
PMID:9741227
RGD:11041158
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Tert
telomerase reverse transcriptase
ISO
RGD
PMID:18426652
RGD:11038658
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tet2
tet methylcytosine dioxygenase 2
disease_progression
ISO
RGD
PMID:25200248
RGD:11038682
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Dnajc21
DnaJ heat shock protein family (Hsp40) member C21
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
CTD ClinVar
PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 PMID:29146883 More...
NCBI chr 2:59,419,507...59,446,746
Ensembl chr 2:59,419,510...59,446,752
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Sbds
Sbds, ribosome maturation factor
ISO ISS
DNA:mutations:multiple ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 OMIM:260400 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 PMID:15942154 PMID:17478638 PMID:17916435 PMID:19148133 PMID:20301722 PMID:21695142 PMID:22491737 PMID:22934832 PMID:22935661 PMID:23351992 PMID:24033266 PMID:24388329 PMID:24629175 PMID:24898207 PMID:25525159 PMID:25729736 PMID:25741868 PMID:26479198 PMID:26822237 PMID:27290639 PMID:27418648 PMID:28102861 PMID:28509441 PMID:31321910 PMID:31589614 PMID:32150944 PMID:32581362 PMID:33607811 PMID:34308104 PMID:34758064 PMID:36835434 PMID:12496757 More...
RGD:1599541
NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
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Serpini2
serpin family I member 2
ISS
OMIM:260400
MouseDO
NCBI chr 2:160,014,721...160,044,271
Ensembl chr 2:160,014,721...160,044,280
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Srp19
signal recognition particle 19
ISO
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
ClinVar
NCBI chr18:25,931,734...25,937,974
Ensembl chr18:25,931,589...25,938,017
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Srp54a
signal recognition particle 54A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
CTD ClinVar
PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977
NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189
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Srpra
SRP receptor subunit alpha
ISO
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
ClinVar
NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
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Efl1
elongation factor like GTPase 1
ISO
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 2
OMIM ClinVar
PMID:25741868 PMID:28331068 PMID:28492532 PMID:29970384 PMID:31151987 PMID:34115847 More...
NCBI chr 1:136,638,527...136,763,518
Ensembl chr 1:136,638,527...136,763,518
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Abcb7
ATP binding cassette subfamily B member 7
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16892088 PMID:18637800 PMID:18398482
RGD:11038732
NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858
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Alad
aminolevulinate dehydratase
ISO
protein:decreased activity:kidney, liver, spleen
RGD
PMID:5891055
RGD:12904678
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
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Alas2
5'-aminolevulinate synthase 2
susceptibility
ISO
DNA:transversion:cds:p.F165L (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16716198 PMID:16892088 PMID:7949148
RGD:1599037
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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Calr
calreticulin
ISO
DNA:frameshift mutations:cds:p.K385fs*47, p.L367fs*46 (human)
RGD
PMID:24325359
RGD:11352763
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Gdf15
growth differentiation factor 15
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19036111
NCBI chr16:18,804,457...18,808,043
Ensembl chr16:18,805,239...18,808,055
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Glrx5
glutaredoxin 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18637800
NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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Hspa9
heat shock protein family A (Hsp70) member 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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Mt-co1
mitochondrially encoded cytochrome c oxidase I
ISO
ClinVar Annotator: match by term: Acquired idiopathic sideroblastic anemia
ClinVar
PMID:9389715 PMID:32906214
NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
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Pus1
pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Sideroblastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:45,880,364...45,889,196
Ensembl chr12:45,880,440...45,889,196
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Slc25a38
solute carrier family 25, member 38
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19412178
NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16910769 PMID:21326867
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Tfrc
transferrin receptor
ISO
mRNA,protein:increased expression:erythroblast:
RGD
PMID:21326867
RGD:11062136
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Alas2
5'-aminolevulinate synthase 2
onset
ISO
ClinVar Annotator: match by term: ALAS2-related condition | ClinVar Annotator: match by term: Anemia, hereditary sideroblastic 1, pyridoxine refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds:p.R452H, R452C, K156E(human) DNA:mutation:exon: 1236 G> A, p.C395Y (human) DNA:mutations:exons:p.K299Q,A172T(human)
OMIM ClinVar CTD RGD
PMID:1570328 PMID:7560104 PMID:7592563 PMID:7705839 PMID:7949148 PMID:8107717 PMID:9226183 PMID:9488633 PMID:9858242 PMID:10029606 PMID:10444183 PMID:11110715 PMID:12031592 PMID:12531813 PMID:12663458 PMID:16121195 PMID:16446107 PMID:18637800 PMID:18823803 PMID:20848343 PMID:21309041 PMID:21653323 PMID:22269113 PMID:22740690 PMID:22778251 PMID:22995991 PMID:23315997 PMID:23409301 PMID:24166784 PMID:25741868 PMID:28492532 PMID:28840292 PMID:30678654 PMID:32297424 PMID:35093382 PMID:36135330 PMID:21252495 PMID:11110715 PMID:7560104 More...
RGD:11035244 , RGD:11035243 , RGD:11035241
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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Apex2
apurinic/apyrimidinic endodeoxyribonuclease 2
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 1
ClinVar
NCBI chr X:19,425,684...19,508,459
Ensembl chr X:19,487,419...19,508,439
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Slc25a38
solute carrier family 25, member 38
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 1 | ClinVar Annotator: match by term: X chromosome-linked sideroblastic anemia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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Hscb
HscB mitochondrial iron-sulfur cluster co-chaperone
ISO
ClinVar Annotator: match by term: Anemia, sideroblastic, 5
OMIM ClinVar
PMID:32634119
NCBI chr12:45,821,527...45,831,902
Ensembl chr12:45,821,555...45,831,909
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Trnt1
tRNA nucleotidyl transferase 1
ISO
ClinVar Annotator: match by term: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
OMIM ClinVar
PMID:2649490 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25193871 PMID:25652405 PMID:25741868 PMID:26494905 PMID:27370603 PMID:27389523 PMID:27531075 PMID:28492532 PMID:29055896 PMID:29358286 PMID:29454993 PMID:29610179 PMID:30758723 PMID:31019026 PMID:31338833 PMID:31664448 PMID:32371413 PMID:32592741 PMID:33332575 PMID:33646446 PMID:33936027 PMID:34510712 More...
NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
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Cd79b
CD79b molecule
ISO
protein:decreased expression:blood, B cell (human)
RGD
PMID:10329919
RGD:11531139
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
ClinVar Annotator: match by term: Thrombocythemia 2 | ClinVar Annotator: match by term: Thrombocythemia 2, somatic
OMIM ClinVar
PMID:8073287 PMID:11133753 PMID:14764528 PMID:15269348 PMID:16199547 PMID:16470591 PMID:16834459 PMID:16868251 PMID:18090929 PMID:18451306 PMID:18528423 PMID:18769448 PMID:19036112 PMID:19483125 PMID:19608689 PMID:20113333 PMID:20151976 PMID:20188141 PMID:21326037 PMID:21489838 PMID:23970983 PMID:24033266 PMID:24438083 PMID:24728327 PMID:25023898 PMID:25538044 PMID:25741868 PMID:26316487 PMID:27069254 PMID:28492532 PMID:28823277 PMID:31064749 PMID:31294534 PMID:32703794 PMID:34573280 More...
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Insl6
insulin-like 6
ISO
ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3
ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:30811597 PMID:32581362 More...
NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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Jak2
Janus kinase 2
ISO
ClinVar Annotator: match by term: THROMBOCYTOSIS 3 | ClinVar Annotator: match by term: Thrombocythemia 3
OMIM ClinVar
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:30811597 PMID:32581362 More...
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Mpig6b
megakaryocyte and platelet inhibitory receptor G6b
ISO
ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis
OMIM ClinVar
PMID:23112346 PMID:25741868 PMID:27743390 PMID:28492532
NCBI chr20:3,757,396...3,761,024
Ensembl chr20:3,757,536...3,760,735
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Calr
calreticulin
ISO
human gene in a mouse model;DNA:deletion, insertion:cds:c.1179_1230del, c.1234_1235insTTGTC (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:26608331
RGD:11352752
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Cpb2
carboxypeptidase B2
ISO
RGD
PMID:16244771
RGD:1598473
NCBI chr15:50,557,722...50,606,569
Ensembl chr15:50,557,717...50,606,556
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Epor
erythropoietin receptor
ISO
RGD
PMID:8400289
RGD:11041647
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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Il1b
interleukin 1 beta
ISO
RGD
PMID:2265245
RGD:10450885
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Jak2
Janus kinase 2
ISO IAGP
essential thrombocythemia, OMIM:187950 associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F CTD Direct Evidence: marker/mechanism DNA:point mutations: :p.S755R, p.R938Q (human)
CTD RGD
PMID:19287382 PMID:19287384 PMID:15781101 PMID:22467227 PMID:24398328
RGD:1627655 , RGD:15039391 , RGD:10449375
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
DNA:mutation:cds:c.317C > T,p.P106L(human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15813844 PMID:16484586 PMID:19036112
RGD:11073684
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Pcdha1
protocadherin alpha 1
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha10
protocadherin alpha 10
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha2
protocadherin alpha 2
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha3
protocadherin alpha 3
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha4
protocadherin alpha 4
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
NCBI chr18:28,581,040...28,846,214
Ensembl chr18:28,581,225...28,846,211
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Pcdha5
protocadherin alpha 5
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha6
protocadherin alpha 6
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha7
protocadherin alpha 7
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha8
protocadherin alpha 8
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Pcdha9
protocadherin alpha 9
ISO
ClinVar Annotator: match by term: Thrombocytosis
ClinVar
PMID:25741868
Ensembl chr18:28,581,225...28,846,211
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Sh2b3
SH2B adaptor protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Thpo
thrombopoietin
susceptibility
ISO
DNA:deletion:5' utr CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15813844 PMID:33122006 PMID:9694695
RGD:1601655
Ensembl chr11:80,182,820...80,188,167
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
ClinVar Annotator: match by term: Thrombocytosis, benign familial microcytic
ClinVar
PMID:8073287 PMID:11133753 PMID:16199547 PMID:16470591 PMID:18090929 PMID:19036112 PMID:20188141 PMID:21489838 PMID:24033266 PMID:24438083 PMID:24728327 PMID:25538044 PMID:25741868 PMID:26316487 PMID:28492532 PMID:31064749 More...
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Gata1
GATA binding protein 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Transient myeloproliferative syndrome
CTD OMIM ClinVar RGD
PMID:24056718 PMID:27993330 PMID:14636651
RGD:10450612
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Runx1
RUNX family transcription factor 1
ISO
ClinVar Annotator: match by term: Transient myeloproliferative disorder of Down syndrome
ClinVar
PMID:10068652 PMID:12200707 PMID:15156185 PMID:23817177 PMID:28492532
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Abcb7
ATP binding cassette subfamily B member 7
susceptibility
ISO
DNA:missense mutation: :p.I400M (human) ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.V411L (1299G>C) (human) DNA:missense mutation:exon:p.E433K (1305G>A) (human)
ClinVar CTD OMIM RGD
PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11118249 PMID:11843825 PMID:17576681 PMID:21326867 PMID:22398176 PMID:25741868 PMID:28492532 PMID:34354969 PMID:10196363 PMID:11843825 PMID:11050011 More...
RGD:1598600 , RGD:11038735 , RGD:11038734
NCBI chr X:69,295,598...69,436,775
Ensembl chr X:69,295,552...69,436,858
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Alas2
5'-aminolevulinate synthase 2
ISO
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia
ClinVar
PMID:25741868
NCBI chr X:19,463,146...19,486,526
Ensembl chr X:19,463,171...19,486,519
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Slc30a7
solute carrier family 30 member 7
ISO
ClinVar Annotator: match by term: Ziegler-Huang syndrome
ClinVar OMIM
PMID:25741868 PMID:36821639
NCBI chr 2:203,855,484...203,922,155
Ensembl chr 2:203,859,175...203,922,132
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