RGD DISEASE ONTOLOGY - ANNOTATIONS |
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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.
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Term: | bone marrow disease |
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Accession: | DOID:4961
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browse the term
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18466103 |
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NCBI chr19:20,549,298...20,621,991
Ensembl chr19:20,549,405...20,620,734
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Dcc |
DCC netrin 1 receptor |
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ISO |
ClinVar Annotator: match by term: Bone marrow hypocellularity |
ClinVar |
PMID:25741868 |
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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 |
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ISO |
ClinVar Annotator: match by term: Bone marrow hypocellularity |
ClinVar |
PMID:25741868 PMID:26712909 PMID:27133828 PMID:28547672 PMID:30963592 PMID:31484648 PMID:32098966 PMID:33585199 More...
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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 |
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ISO |
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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 |
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ISO |
ClinVar Annotator: match by term: Bone marrow hypocellularity |
ClinVar |
PMID:25741868 PMID:29987015 |
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NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275
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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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LOC100361854 |
ribosomal protein S26-like |
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ISO |
ClinVar Annotator: match by term: Bone marrow hypocellularity |
ClinVar |
PMID:25741868 |
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NCBI chr X:107,822,116...107,822,555
Ensembl chr X:107,822,178...107,822,525
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Nqo2 |
N-ribosyldihydronicotinamide:quinone reductase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12351651 |
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NCBI chr17:30,909,482...30,938,725
Ensembl chr17:30,909,187...30,938,320
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Rps26 |
ribosomal protein S26 |
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ISO |
ClinVar Annotator: match by term: Bone marrow hypocellularity |
ClinVar |
PMID:25741868 |
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NCBI chr 7:1,057,332...1,058,882
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Tinf2 |
TERF1 interacting nuclear factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18252230 |
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NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Ttr |
transthyretin |
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ISO |
ClinVar Annotator: match by term: Bone marrow hypocellularity |
ClinVar |
PMID:1351039 PMID:1358785 PMID:1997217 PMID:2002274 PMID:2063870 PMID:2237288 PMID:2320592 PMID:2349941 PMID:2590199 PMID:2646319 PMID:3030336 PMID:3229002 PMID:3627183 PMID:3934968 PMID:7868124 PMID:8698351 PMID:9017939 PMID:10762172 PMID:10842715 PMID:11385707 PMID:11752419 PMID:11752443 PMID:12050338 PMID:12217248 PMID:12874413 PMID:12874414 PMID:14569203 PMID:14640030 PMID:15123043 PMID: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:23713495 PMID:23716704 PMID:24033266 PMID:24073013 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:28475415 PMID:28492532 PMID:28635949 PMID:29493581 PMID:29520877 PMID:29764897 PMID:30093168 PMID:30813263 PMID:30938420 PMID:30953182 PMID:31135624 PMID:31359320 PMID:31371117 PMID:31554435 PMID:31659433 PMID:31740141 PMID:31821430 PMID:31980526 PMID:32150461 PMID:32674397 More...
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr12:7,623,658...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Gfi1b |
growth factor independent 1B transcriptional repressor |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr10:81,237,312...81,240,818
Ensembl chr10:81,237,312...81,240,818
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Kmt2a |
lysine methyltransferase 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Npm1 |
nucleophosmin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome |
OMIM ClinVar |
PMID:9326931 PMID:10995512 PMID:12858175 PMID:16955409 PMID:20500465 PMID:24327140 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31130284 More...
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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 |
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ISO |
ClinVar Annotator: match by term: AMED syndrome, digenic |
OMIM ClinVar |
PMID:25741868 PMID:33355142 |
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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 |
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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...
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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 |
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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 |
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ISO |
protein:decreased expression:serum (human) |
RGD |
PMID:22537155 |
RGD:11352267 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Cd86 |
CD86 molecule |
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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 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9885444 PMID:12221670 |
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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 |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:1642096 PMID:9777751 PMID:10544668 PMID:10629575 PMID:15863969 PMID:16553037 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Aplastic anemia |
ClinVar |
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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 |
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ISO |
ClinVar Annotator: match by term: Aplastic anemia |
ClinVar |
PMID:25741868 |
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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 |
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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...92,744,124
Ensembl chr13:92,714,315...92,790,235
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Fas |
Fas cell surface death receptor |
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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 |
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ISO |
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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 |
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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 |
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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 |
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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 |
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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 |
ClinVar Annotator: match by term: Aplastic anemia DNA:polymorphism: : 874A>T(human) DNA:repeats,haplotype:intron: -2,353 A>T(human) DNA:repeats:intron: |
OMIM ClinVar RGD |
PMID:18426658 PMID:20953611 PMID:15327519 |
RGD:10755710, RGD:10755690, RGD:10755688 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Kit |
KIT proto-oncogene receptor tyrosine kinase |
severity |
IMP |
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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 |
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RGD |
PMID:7694680 |
RGD:12910751 |
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Nbn |
nibrin |
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ISO |
ClinVar Annotator: match by term: Aplastic anemia |
OMIM ClinVar |
PMID:11325820 PMID:14559852 PMID:15338273 PMID:16474176 PMID:16810201 PMID:17695489 PMID:17894553 PMID:17899368 PMID:18049891 PMID:18280732 PMID:19393249 PMID:19452044 PMID:19523210 PMID:19813148 PMID:19908051 PMID:21212067 PMID:21698754 PMID:22131123 PMID:22373003 PMID:23317186 PMID:23555315 PMID:24093751 PMID:24113799 PMID:24728327 PMID:24830725 PMID:25619955 PMID:25712764 PMID:25741868 PMID:25980754 PMID:26083025 PMID:26315354 PMID:26467025 PMID:26722329 PMID:26976419 PMID:27109316 PMID:27153395 PMID:27443514 PMID:27616075 PMID:27621404 PMID:28076423 PMID:28261280 PMID:28376765 PMID:28492532 PMID:28591191 PMID:28726808 PMID:29335925 PMID:29522266 PMID:29596542 PMID:29678143 PMID:29785153 PMID:30256826 PMID:30287823 PMID:30441849 PMID:30590007 PMID:30651582 PMID:31159747 PMID:31206626 PMID:31278556 PMID:31422574 PMID:32566746 PMID:33471991 More...
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NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
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Prf1 |
perforin 1 |
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ISO |
ClinVar Annotator: match by term: Aplastic anemia |
OMIM ClinVar |
PMID:1156555 PMID:10583959 PMID:11179007 PMID:11565555 PMID:11756153 PMID:14576041 PMID:14757862 PMID:15205266 PMID:15632205 PMID:15728124 PMID:15755897 PMID:16278825 PMID:16374518 PMID:16443553 PMID:16860143 PMID:17266056 PMID:17311987 PMID:17477373 PMID:17525286 PMID:17674359 PMID:17873118 PMID:18190960 PMID:18710388 PMID:19487666 PMID:19595804 PMID:21234777 PMID:21881043 PMID:21959744 PMID:22437823 PMID:23073290 PMID:23255033 PMID:23264592 PMID:23443029 PMID:23592409 PMID:24744671 PMID:24916509 PMID:25233452 PMID:25741868 PMID:26184781 PMID:26221353 PMID:26684649 PMID:27033761 PMID:27577878 PMID:27622035 PMID:28492532 PMID:29113160 PMID:29239076 PMID:29357941 PMID:29665027 PMID:30899265 PMID:31395954 PMID:32375849 PMID:34170459 More...
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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 |
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ISS |
OMIM:609135 |
MouseDO |
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NCBI chr16:75,855,360...75,969,349
Ensembl chr16:75,855,265...75,970,804
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Rpl5 |
ribosomal protein L5 |
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ISO |
ClinVar Annotator: match by term: Aplastic anemia |
ClinVar |
PMID:25741868 |
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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 |
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ISO |
ClinVar Annotator: match by term: Aplastic anemia, susceptibility to |
OMIM ClinVar |
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 PMID:15942154 PMID:16867904 PMID:17478638 PMID:19148133 PMID:20301722 PMID:21695142 PMID:22934832 PMID:22935661 PMID:24033266 PMID:24388329 PMID:24629175 PMID:25525159 PMID:25729736 PMID:25741868 PMID:26822237 PMID:32150944 PMID:32581362 More...
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NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
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Terc |
telomerase RNA component |
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ISO |
ClinVar Annotator: match by term: Aplastic anemia |
ClinVar |
PMID:12090986 PMID:12676774 PMID:12972604 PMID:15082312 PMID:15098033 PMID:15319288 PMID:15550482 PMID:17640862 PMID:19095616 PMID:19835419 PMID:20022961 PMID:21844345 PMID:22341970 PMID:24033266 PMID:25612863 PMID:25741868 PMID:28492532 More...
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NCBI chr 2:112,815,654...112,816,041
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Tert |
telomerase reverse transcriptase |
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ISO |
ClinVar Annotator: match by term: Aplastic anemia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:2602487 PMID:15814878 PMID:15885610 PMID:16332973 PMID:16627250 PMID:17460043 PMID:18042801 PMID:18635888 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19489057 PMID:19561322 PMID:19674077 PMID:19760749 PMID:19796246 PMID:20044353 PMID:20301779 PMID:20502709 PMID:20858879 PMID:20966039 PMID:21258621 PMID:21520173 PMID:21635204 PMID:22424236 PMID:22476886 PMID:23538340 PMID:23716176 PMID:23901009 PMID:23905534 PMID:24033266 PMID:24983628 PMID:25108601 PMID:25741868 PMID:25785092 PMID:26024875 PMID:26136524 PMID:26158642 PMID:26365799 PMID:27354474 PMID:27540018 PMID:27848944 PMID:28104920 PMID:28154186 PMID:28492532 PMID:28495692 PMID:28677271 PMID:28813500 PMID:29625052 PMID:30523342 PMID:23336163 More...
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RGD:11038668 |
NCBI chr 1:29,637,213...29,659,509
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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G |
Tinf2 |
TERF1 interacting nuclear factor 2 |
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ISO |
ClinVar Annotator: match by term: Aplastic anemia |
ClinVar |
PMID:20301779 |
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NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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G |
Tnf |
tumor necrosis factor |
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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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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
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RGD |
PMID:15050920 |
RGD:11352668 |
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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G |
Setbp1 |
SET binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23222956 |
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NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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G |
Hspa9 |
heat shock protein family A (Hsp70) member 9 |
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ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 4 |
OMIM ClinVar |
PMID:3653362 PMID:20817635 PMID:25741868 PMID:26491070 PMID:28492532 |
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NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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G |
Glrx5 |
glutaredoxin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:123,988,169...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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G |
Slc25a38 |
solute carrier family 25, member 38 |
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ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive |
OMIM ClinVar |
PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 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...
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NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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G |
Glrx5 |
glutaredoxin 5 |
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ISO |
ClinVar Annotator: match by term: Sideroblastic anemia 3 |
OMIM ClinVar |
PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 PMID:30660387 More...
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NCBI chr 6:123,988,169...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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G |
Arsa |
arylsulfatase A |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia |
ClinVar |
PMID:25741868 |
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NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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G |
Aicda |
activation-induced cytidine deaminase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21570118 |
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NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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G |
Bcr |
BCR activator of RhoGEF and GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21570118 |
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NCBI chr20:13,471,679...13,596,497
Ensembl chr20:13,471,668...13,597,016
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G |
Esr2 |
estrogen receptor 2 |
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ISO |
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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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G |
Hmox1 |
heme oxygenase 1 |
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ISO |
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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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G |
Mir150 |
microRNA 150 |
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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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G |
Tcn2 |
transcobalamin 2 |
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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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G |
Dut |
deoxyuridine triphosphatase |
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ISO |
ClinVar Annotator: match by term: Bone marrow failure and diabetes mellitus syndrome |
ClinVar OMIM |
PMID:9548420 PMID:28073829 PMID:35611808 PMID:35931051 |
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NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771
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G |
Srp72 |
signal recognition particle 72 |
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ISO |
ClinVar Annotator: match by term: Bone marrow failure syndrome 1 |
OMIM ClinVar |
PMID:22541560 PMID:25741868 PMID:28492532 |
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NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729
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G |
Ercc6l2 |
ERCC excision repair 6 like 2 |
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ISO |
ClinVar Annotator: match by term: Bone marrow failure syndrome 2 |
OMIM ClinVar |
PMID:24507776 PMID:25741868 PMID:27185855 PMID:28492532 PMID:29146883 PMID:29633571 PMID:29987015 More...
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NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275
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G |
Dnajc21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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ISO |
ClinVar Annotator: match by term: Bone marrow failure syndrome 3 |
OMIM ClinVar |
PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 PMID:29146883 PMID:29700810 More...
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NCBI chr 2:59,419,505...59,446,743
Ensembl chr 2:59,419,510...59,446,752
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G |
Mysm1 |
myb-like, SWIRM and MPN domains 1 |
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ISO |
ClinVar Annotator: match by term: Bone marrow failure syndrome 4 |
OMIM ClinVar |
PMID:22184403 PMID:24288411 PMID:25741868 PMID:26220525 PMID:28115216 PMID:28492532 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Bone marrow failure syndrome 5 |
OMIM ClinVar |
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1975675 PMID:1999338 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 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:11370630 PMID:11403041 PMID:11782540 PMID:11793474 PMID:12007217 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 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:16969106 PMID:17015838 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:18307025 PMID:18391940 PMID:18511570 PMID:18685109 PMID:19101993 PMID:19127115 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19881536 PMID:20128691 PMID:20407015 PMID:20436704 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21619694 PMID:21665182 PMID:21672450 PMID:21761402 PMID:22006311 PMID:22114072 PMID:22186996 PMID:22233476 PMID:22698404 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22923379 PMID:23031740 PMID:23161690 PMID:23246812 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23624782 PMID:23630318 PMID:23792586 PMID:23887774 PMID:24033266 PMID:24122735 PMID:24381225 PMID:24382691 PMID:24487413 PMID:24573247 PMID:24641375 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24835218 PMID:25157968 PMID:25516983 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26718964 PMID:26786923 PMID:26911350 PMID:27153395 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27714481 PMID:27895058 PMID:27959731 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28873162 PMID:29070607 PMID:29489754 PMID:29979965 PMID:30146126 PMID:30224644 PMID:30327374 PMID:30816478 PMID:31742824 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32658383 PMID:33372952 PMID:34299313 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Mdm4 |
MDM4 regulator of p53 |
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ISO |
ClinVar Annotator: match by term: Bone marrow failure syndrome 6 |
OMIM ClinVar |
PMID:25741868 PMID:32300648 |
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NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226
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G |
Csf3 |
colony stimulating factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20026017 |
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NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Tp53 |
tumor protein p53 |
disease_progression |
ISO |
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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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G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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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 More...
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NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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G |
Bcr |
BCR activator of RhoGEF and GTPase |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:13,471,679...13,596,497
Ensembl chr20:13,471,668...13,597,016
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:24033266 PMID:24446311 PMID:25157968 PMID:26619011 |
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Csf3r |
colony stimulating factor 3 receptor |
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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...
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NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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G |
Ikzf1 |
IKAROS family zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
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NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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G |
Insl6 |
insulin-like 6 |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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G |
Jak2 |
Janus kinase 2 |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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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 |
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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...
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NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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G |
Kras |
KRAS proto-oncogene, GTPase |
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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:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20921462 PMID:20921465 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22235099 PMID:22407852 PMID:22683711 PMID:22897852 PMID:23096712 PMID:23406027 PMID:24033266 PMID:25157968 PMID:26372703 PMID:29298116 PMID:31891627 More...
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NCBI chr 4:178,185,418...178,218,484
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G |
Nras |
NRAS proto-oncogene, GTPase |
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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...
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NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Setbp1 |
SET binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:18398855 PMID:18414213 PMID:20436468 PMID:21371013 PMID:23222956 PMID:25741868 More...
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NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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G |
Sf3b1 |
splicing factor 3b, subunit 1 |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:23395771 |
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NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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G |
Abcb1a |
ATP binding cassette subfamily B member 1A |
treatment susceptibility |
ISO |
DNA:SNPs: :1236T>C,2677G>A(human) DNA:SNP, haplotype: :3435C>T (human) |
RGD |
PMID:24581936 PMID:26250462 |
RGD:11081178, RGD:11081180 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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G |
Abcc2 |
ATP binding cassette subfamily C member 2 |
treatment |
ISO |
DNA:haploltype: :-24C>T, 1249G>A, 3972C>T(human) |
RGD |
PMID:25060527 |
RGD:11080961 |
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
treatment susceptibility |
ISO |
DNA:SNP: :421C>A(human) DNA:haplotype:cds: p.Q141K,p.V12M,(rs2231142),(rs2725252)(human) DNA:SNP,haplotype: :C>A421(human) |
RGD |
PMID:24581936 PMID:24123600 PMID:26250462 |
RGD:11081178, RGD:11081181, RGD:11081180 |
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
susceptibility treatment |
ISO |
ClinVar Annotator: match by term: ABL1-Related Disorder | ClinVar Annotator: match by term: Leukemia, Philadelphia chromosome-positive, resistant to imatinib CTD Direct Evidence: marker/mechanism DNA:gene fusion DNA:missense mutations: :multiple |
ClinVar CTD OMIM RGD |
PMID:10988075 PMID:11423618 PMID:11569495 PMID:11853795 PMID:11861307 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:25157968 PMID:25686603 PMID:25741868 PMID:28492532 PMID:33070465 PMID:3021820 PMID:25133686 PMID:21481795 PMID:12067277 PMID:23289634 More...
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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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G |
Abl2 |
ABL proto-oncogene 2, non-receptor tyrosine kinase |
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TAS |
|
RGD |
PMID:7773298 |
RGD:1298615 |
NCBI chr13:68,673,702...68,839,742
Ensembl chr13:68,673,722...68,839,742
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G |
Ace |
angiotensin I converting enzyme |
|
ISO |
|
RGD |
PMID:19761684 |
RGD:11039056 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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G |
Agt |
angiotensinogen |
|
ISO |
|
RGD |
PMID:19761684 |
RGD:11039056 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Akt1 |
AKT serine/threonine kinase 1 |
|
ISO |
protein:increased phosphorylation:blood |
RGD |
PMID:17900686 |
RGD:13674160 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Alox5 |
arachidonate 5-lipoxygenase |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19503090 PMID:19823023 |
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NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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G |
Bcl2l1 |
Bcl2-like 1 |
|
ISO |
|
RGD |
PMID:20728382 |
RGD:11353850 |
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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G |
Bcr |
BCR activator of RhoGEF and GTPase |
susceptibility treatment disease_progression |
ISO |
DNA:gene fusion CTD Direct Evidence: marker/mechanism BCR/ABL fusion DNA:methylation: : DNA:translocations:cds: |
CTD OMIM RGD |
PMID:15604220 PMID:18673174 PMID:21908430 PMID:33070465 PMID:3101769 PMID:12613514 PMID:25133686 PMID:12067277 PMID:7683349 PMID:2683759 PMID:1362728 More...
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RGD:1600510, RGD:41404631, RGD:13674161, RGD:14392796, RGD:11038783, RGD:11038776, RGD:11038775 |
NCBI chr20:13,471,679...13,596,497
Ensembl chr20:13,471,668...13,597,016
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G |
Birc5 |
baculoviral IAP repeat-containing 5 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16254145 |
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NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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G |
Bmal1 |
basic helix-loop-helix ARNT like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16999817 |
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NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
PMID:24033266 PMID:24446311 PMID:25157968 PMID:26619011 |
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Car9 |
carbonic anhydrase 9 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17157168 |
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NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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G |
Casp6 |
caspase 6 |
treatment |
ISO |
human cells in mouse model |
RGD |
PMID:31952546 |
RGD:151667904 |
NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502
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G |
Cd36 |
CD36 molecule |
|
ISO |
protein:increased expression:platelet, cell surface |
RGD |
PMID:8555064 |
RGD:11041099 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cd40 |
CD40 molecule |
|
ISO |
protein:increased expression:peripheral blood, dendritic cell (human) |
RGD |
PMID:16527350 |
RGD:11520794 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
|
ISO |
Protein:increased expression:Blood, common myeloid progenitor, CD34-positive |
RGD |
PMID:20200561 |
RGD:13673878 |
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
treatment |
ISO |
|
RGD |
PMID:16533530 |
RGD:11251777 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2a_v1 |
cyclin-dependent kinase inhibitor 2A, variant 1 |
treatment |
ISO |
|
RGD |
PMID:16533530 |
RGD:11251777 |
|
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G |
Cdkn2a_v2 |
cyclin-dependent kinase inhibitor 2A, variant 2 |
treatment |
ISO |
|
RGD |
PMID:16533530 |
RGD:11251777 |
|
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G |
Chordc1 |
cysteine and histidine rich domain containing 1 |
|
ISS |
OMIM:608232 |
MouseDO |
|
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NCBI chr 8:15,374,356...15,398,436
Ensembl chr 8:15,374,471...15,399,162
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G |
Crkl |
CRK like proto-oncogene, adaptor protein |
|
ISO |
protein:increased phosphorylation:blood |
RGD |
PMID:17900686 |
RGD:13674160 |
NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
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G |
Cry1 |
cryptochrome circadian regulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16999817 |
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NCBI chr 7:18,529,823...18,594,092
Ensembl chr 7:18,529,823...18,594,091
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G |
Cry2 |
cryptochrome circadian regulator 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16999817 |
|
NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
treatment |
ISO |
DNA:polymorphism:cds:4889A>G(p.I462V)(human) |
RGD |
PMID:26464823 |
RGD:11352729 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp3a9 |
cytochrome P450, family 3, subfamily a, polypeptide 9 |
susceptibility treatment |
ISO |
DNA:polymorphism:intron :6986A>G(human) DNA:SNP::rs776746(human) |
RGD |
PMID:21039054 PMID:19584153 |
RGD:11353798, RGD:11353810 |
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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G |
Dnmt1 |
DNA methyltransferase 1 |
disease_progression |
ISO |
|
RGD |
PMID:11222358 |
RGD:9588667 |
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
disease_progression |
ISO |
|
RGD |
PMID:11222358 |
RGD:9588667 |
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
disease_progression |
ISO |
|
RGD |
PMID:11222358 |
RGD:9588667 |
NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
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G |
E2f1 |
E2F transcription factor 1 |
|
ISO |
mRNA:increased expression:blood |
RGD |
PMID:26460262 |
RGD:13674165 |
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
ISO |
DNA:polymorphism: :p.K751Q (human) DNA:polymorphism: :p.K751Q (rs13181) (human) |
RGD |
PMID:24955348 PMID:25311495 |
RGD:11252188, RGD:11060463 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
|
ISO |
mRNA:increased expression:bone marrow mononuclear cells (human) |
RGD |
PMID:27070757 |
RGD:13782088 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
Fas |
Fas cell surface death receptor |
susceptibility |
ISO |
DNA:polymorphisms, haplotype:promoter: -670 G>A, -1377 G>A (human) |
RGD |
PMID:26563376 |
RGD:11049146 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
susceptibility |
ISO |
DNA:polymorphism:promoter: -844 T>C(human) |
RGD |
PMID:26563376 |
RGD:11049146 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fcgr2a |
Fc gamma receptor 2A |
|
ISO |
|
RGD |
PMID:8632671 |
RGD:11344957 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
mRNA:increased expression:peripheral blood (human) |
RGD |
PMID:14562121 |
RGD:36947884 |
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Gab2 |
GRB2-associated binding protein 2 |
disease_progression |
ISO |
protein:increased expression:bone marrow |
RGD |
PMID:22858987 |
RGD:13699433 |
NCBI chr 1:151,429,844...151,625,708
Ensembl chr 1:151,429,695...151,625,031
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|
G |
Gpx1 |
glutathione peroxidase 1 |
no_association |
ISO |
DNA:polymorphism: :p.P198L (human) |
RGD |
PMID:25436036 |
RGD:11352762 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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|
G |
Gstp1 |
glutathione S-transferase pi 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20843134 |
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NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Hes1 |
hes family bHLH transcription factor 1 |
|
IMP |
rat gene in a mouse model |
RGD |
PMID:19861684 |
RGD:9685380 |
NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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G |
Hmmr |
hyaluronan-mediated motility receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17157168 |
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NCBI chr10:25,132,933...25,163,029
Ensembl chr10:25,132,977...25,163,060
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G |
Hmox1 |
heme oxygenase 1 |
|
ISO |
|
RGD |
PMID:22139798 |
RGD:10755566 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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|
G |
Hspa5 |
heat shock protein family A (Hsp70) member 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23777986 |
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NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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G |
Il10 |
interleukin 10 |
treatment |
ISO |
|
RGD |
PMID:20305143 |
RGD:11049154 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il1b |
interleukin 1 beta |
severity |
ISO |
|
RGD |
PMID:7949186 |
RGD:10450889 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
severity |
ISO |
|
RGD |
PMID:7949186 |
RGD:10450889 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Insl6 |
insulin-like 6 |
|
ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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G |
Jak2 |
Janus kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
PMID:2278970 PMID:3122217 PMID:8439212 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:18316791 PMID:19018267 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20921462 PMID:20921465 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22235099 PMID:22407852 PMID:22683711 PMID:22897852 PMID:23096712 PMID:23406027 PMID:24033266 PMID:25157968 PMID:26372703 PMID:29298116 PMID:31891627 More...
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NCBI chr 4:178,185,418...178,218,484
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G |
Mapk14 |
mitogen activated protein kinase 14 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16818652 |
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NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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G |
Mdm2 |
MDM2 proto-oncogene |
onset |
ISO |
DNA:SNP:promoter:rs2279744(human) |
RGD |
PMID:23818300 |
RGD:13703044 |
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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G |
Mir150 |
microRNA 150 |
|
ISO |
miRNA:decreased expression:leukocytes |
RGD |
PMID:21501493 |
RGD:13782140 |
NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
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G |
Mlf1 |
myeloid leukemia factor 1 |
|
ISO |
|
RGD |
PMID:15659732 |
RGD:1600902 |
NCBI chr 2:151,648,492...151,681,654
Ensembl chr 2:151,648,511...151,681,652
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G |
Mthfr |
methylenetetrahydrofolate reductase |
|
ISO |
DNA:SNPs: :677C>T, 1298A>C(human) |
RGD |
PMID:17156840 |
RGD:10449408 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Ncstn |
nicastrin |
|
ISS |
OMIM:608232 |
MouseDO |
|
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NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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G |
Npm1 |
nucleophosmin 1 |
|
ISO |
|
RGD |
PMID:15659732 |
RGD:1600902 |
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
|
ISO |
DNA:SNP: :609C>T (human) |
RGD |
PMID:16235982 |
RGD:10769357 |
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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G |
Nras |
NRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
PMID:2278970 PMID:2674680 PMID:3122217 PMID:8120410 PMID:12460918 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...
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NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:16521495 |
RGD:11552593 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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G |
Per1 |
period circadian regulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16999817 |
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NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
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G |
Per2 |
period circadian regulator 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16999817 |
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NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
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G |
Per3 |
period circadian regulator 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16999817 |
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NCBI chr 5:161,460,228...161,495,404
Ensembl chr 5:161,459,533...161,495,607
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G |
Prame |
PRAME nuclear receptor transcriptional regulator |
|
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
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G |
Prtn3 |
proteinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17157168 |
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NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944
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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
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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
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G |
Sh2b3 |
SH2B adaptor protein 3 |
|
ISS |
OMIM:608232 |
MouseDO |
|
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NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616
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G |
Sipa1 |
signal-induced proliferation-associated 1 |
|
ISS |
OMIM:608232 |
MouseDO |
|
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NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
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G |
Smad4 |
SMAD family member 4 |
|
ISO |
mRNA:decreased expression:blood |
RGD |
PMID:29951173 |
RGD:13782079 |
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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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
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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
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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...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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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
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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
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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
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G |
Wt1 |
WT1 transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17157168 |
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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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
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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
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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
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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
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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
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G |
Kdm6a |
lysine demethylase 6A |
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ISS |
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MouseDO |
|
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NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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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
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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
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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
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G |
Dnajc21 |
DnaJ heat shock protein family (Hsp40) member C21 |
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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...
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NCBI chr 2:59,419,505...59,446,743
Ensembl chr 2:59,419,510...59,446,752
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G |
Ercc6l2 |
ERCC excision repair 6 like 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr17:1,076,486...1,311,281
Ensembl chr17:1,216,428...1,310,275
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G |
Srp72 |
signal recognition particle 72 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
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G |
Gata1 |
GATA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Congenital hypoplastic anemia |
ClinVar |
PMID:3164080 PMID:15895080 PMID:16783379 PMID:20301538 PMID:22706301 PMID:24453067 PMID:24766296 PMID:24952648 PMID:28492532 PMID:35030251 More...
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NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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G |
Rps19 |
ribosomal protein S19 |
|
ISO |
ClinVar Annotator: match by term: Congenital hypoplastic anemia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:80,480,718...80,486,511
Ensembl chr 1:80,480,951...80,486,508
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G |
Umps |
uridine monophosphate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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G |
Alox12b |
arachidonate 12-lipoxygenase, 12R type |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
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G |
Alox15b |
arachidonate 15-lipoxygenase, type B |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:53,892,496...53,901,812
Ensembl chr10:53,892,466...53,901,812
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G |
Aloxe3 |
arachidonate lipoxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:53,830,219...53,854,328
Ensembl chr10:53,831,264...53,854,328
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G |
Arhgef15 |
Rho guanine nucleotide exchange factor 15 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 |
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NCBI chr10:53,650,521...53,662,914
Ensembl chr10:53,650,553...53,663,913
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G |
Aurkb |
aurora kinase B |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:53,744,290...53,750,831
Ensembl chr10:53,745,142...53,750,837
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G |
Borcs6 |
BLOC-1 related complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:53,760,504...53,762,358
Ensembl chr10:53,758,093...53,762,632
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G |
Chd3 |
chromodomain helicase DNA binding protein 3 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:54,063,629...54,090,030
Ensembl chr10:54,063,629...54,090,047
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G |
Cntrob |
centrobin, centriole duplication and spindle assembly protein |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849
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G |
Ctc1 |
CST telomere replication complex component 1 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 |
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NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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G |
Cyb5d1 |
cytochrome b5 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:54,113,428...54,117,744
Ensembl chr10:54,113,438...54,117,911
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G |
Dipk1a |
divergent protein kinase domain 1A |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:16199547 PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:22689679 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:27432187 PMID:28492532 PMID:28991257 More...
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NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
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G |
Dnah2 |
dynein, axonemal, heavy chain 2 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:54,142,648...54,268,901
Ensembl chr10:54,142,737...54,267,298
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G |
Efnb3 |
ephrin B3 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:54,274,506...54,281,951
Ensembl chr10:54,274,506...54,280,471
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G |
Flvcr1 |
FLVCR heme transporter 1 |
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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 |
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NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661
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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:11566888 PMID:11809723 PMID:12200364 PMID:14691578 PMID:15070711 PMID:15895080 PMID:15920471 PMID:16095949 PMID:16199547 PMID:16783379 PMID:17209061 PMID:17881640 PMID:20301538 PMID:22706301 PMID:23704091 PMID:24255919 PMID:24453067 PMID:24728327 PMID:24766296 PMID:24952648 PMID:25741868 PMID:27993330 PMID:28492532 PMID:35030251 More...
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NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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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
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G |
Glod5 |
glyoxalase domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,473,994...14,488,797
Ensembl chr X:14,473,994...14,488,683
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G |
Gucy2d |
guanylate cyclase 2D, retinal |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067
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G |
Heatr3 |
HEAT repeat containing 3 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:35213692 |
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NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
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G |
Hes7 |
hes family bHLH transcription factor 7 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:53,824,124...53,828,350
Ensembl chr10:53,825,574...53,828,097
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G |
Iqcg |
IQ motif containing G |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 |
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NCBI chr11:67,730,117...67,771,170
Ensembl chr11:67,730,247...67,771,168
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G |
Kcnab3 |
potassium voltage-gated channel subfamily A regulatory beta subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:54,047,830...54,056,401
Ensembl chr10:54,047,825...54,054,174
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G |
Kdm6b |
lysine demethylase 6B |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
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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
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G |
LOC100361240 |
ribosomal protein S10-like |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 More...
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NCBI chr15:18,308,287...18,309,139
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G |
LOC100361854 |
ribosomal protein S26-like |
|
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...
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NCBI chr X:107,822,116...107,822,555
Ensembl chr X:107,822,178...107,822,525
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G |
Naa38 |
N(alpha)-acetyltransferase 38, NatC auxiliary subunit |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:54,117,754...54,118,913
Ensembl chr10:54,117,163...54,119,494
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G |
Odf4 |
outer dense fiber of sperm tails 4 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 |
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NCBI chr10:53,628,592...53,634,525
Ensembl chr10:53,628,759...53,634,359
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G |
Per1 |
period circadian regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
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G |
Pfas |
phosphoribosylformylglycinamidine synthase |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 |
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NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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G |
Polr3a |
RNA polymerase III subunit A |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22855961 PMID:25741868 PMID:27029625 |
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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G |
Rangrf |
RAN guanine nucleotide release factor |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 |
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NCBI chr10:53,677,467...53,678,880
Ensembl chr10:53,677,467...53,678,840
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G |
Rnf227 |
ring finger protein 227 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:54,061,054...54,061,726
Ensembl chr10:54,059,947...54,063,010
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G |
Rpl11 |
ribosomal protein L11 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:16199547 PMID:19061985 PMID:19773262 PMID:20960466 PMID:22689679 PMID:23718193 PMID:25741868 PMID:26136524 PMID:26185635 PMID:28492532 More...
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NCBI chr 5:148,274,060...148,277,708
Ensembl chr 5:148,274,069...148,277,599
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G |
Rpl19 |
ribosomal protein L19 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:83,022,503...83,026,030
Ensembl chr10:83,019,257...83,052,112
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G |
Rpl26 |
ribosomal protein L26 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:22431104 PMID:25741868 PMID:28492532 |
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NCBI chr10:53,610,836...53,613,966
Ensembl chr10:53,610,421...53,613,966
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G |
Rpl35a |
ribosomal protein L35A |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:18535205 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28492532 |
|
NCBI chr11:67,726,034...67,730,023
Ensembl chr11:67,726,032...67,729,942
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G |
Rpl5 |
ribosomal protein L5 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
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:27432187 PMID:28492532 PMID:28991257 More...
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NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
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G |
Rps10 |
ribosomal protein S10 |
|
ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 More...
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|
NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044
|
|
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
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G |
Rps19 |
ribosomal protein S19 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia |
CTD ClinVar |
PMID:3769971 PMID:9536098 PMID:9988267 PMID:10590074 PMID:10598818 PMID:10753603 PMID:11112378 PMID:12750732 PMID:15059149 PMID:15384984 PMID:15523650 PMID:16159874 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:25741868 PMID:25946618 PMID:26604301 PMID:27882484 PMID:28102861 PMID:28492532 PMID:29766597 PMID:30503522 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:25741868 PMID:32790018 |
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NCBI chr 5:16,819,313...16,820,475
Ensembl chr 5:16,819,304...16,820,475
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Rps24 |
ribosomal protein S24 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:9536098 PMID:17186470 PMID:17576681 PMID:19689926 PMID:20960466 PMID:22855961 PMID:25741868 PMID:26136524 PMID:27029625 PMID:28492532 PMID:29748317 More...
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NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
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Rps26 |
ribosomal protein S26 |
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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...
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NCBI chr 7:1,057,332...1,058,882
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Rps7 |
ribosomal protein S7 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:25741868 PMID:26136524 PMID:28492532 |
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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 |
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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 |
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NCBI chr 8:119,851,225...119,855,103
Ensembl chr 8:119,851,225...119,855,247
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Slc25a35 |
solute carrier family 25, member 35 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:22431104 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:19061985 PMID:19773262 PMID:22689679 PMID:28492532 |
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NCBI chr14:1,847,134...1,847,227
Ensembl chr14:1,847,134...1,847,227
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Suv39h1 |
SUV39H1 histone lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,421,028...14,434,216
Ensembl chr X:14,421,109...14,433,982
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Suv39h1-ps1 |
SUV39H1 histone lysine methyltransferase, pseudogene 1 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:28492532 |
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NCBI chr X:141,793,695...141,795,558
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Tmem107 |
transmembrane protein 107 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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Tmem88 |
transmembrane protein 88 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:54,118,752...54,120,447
Ensembl chr10:54,118,752...54,120,447
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Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:25741868 PMID:28492532 PMID:30146126 |
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:54,045,598...54,047,184
Ensembl chr10:54,045,537...54,047,331
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Vamp2 |
vesicle-associated membrane protein 2 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:28492532 |
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NCBI chr X:14,405,096...14,413,850
Ensembl chr X:14,405,124...14,413,849
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Wrap53 |
WD repeat containing, antisense to TP53 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:22267198 PMID:22387016 PMID:28492532 |
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NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929
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Zfp846 |
zinc finger protein 846 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia |
ClinVar |
PMID:25741868 |
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NCBI chr 8:19,119,788...19,137,120
Ensembl chr 8:19,119,945...19,137,281
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Dipk1a |
divergent protein kinase domain 1A |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 |
ClinVar |
PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:25741868 PMID:28492532 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 |
ClinVar |
PMID:25741868 PMID:35213692 |
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NCBI chr19:18,892,477...18,930,502
Ensembl chr19:18,893,144...18,930,509
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Rpl5 |
ribosomal protein L5 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 |
ClinVar |
PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:25741868 PMID:28492532 More...
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NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
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Rps19 |
ribosomal protein S19 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 1 |
OMIM ClinVar |
PMID:9988267 PMID:10590074 PMID:10598818 PMID:12586610 PMID:17517689 PMID:18768533 PMID:20395159 PMID:23812780 PMID:24033266 PMID:25741868 PMID:28492532 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 |
ClinVar |
PMID:23812780 |
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NCBI chr 7:1,063,283...1,102,940
Ensembl chr 7:1,056,890...1,084,341
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LOC100361854 |
ribosomal protein S26-like |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 |
ClinVar |
PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 PMID:20116044 PMID:21414820 PMID:22381658 PMID:23718193 PMID:23812780 PMID:24675553 PMID:24942156 PMID:25741868 PMID:26136524 PMID:28102861 PMID:28492532 PMID:29114930 More...
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NCBI chr X:107,822,116...107,822,555
Ensembl chr X:107,822,178...107,822,525
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Rps26 |
ribosomal protein S26 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 10 |
ClinVar OMIM |
PMID:9536098 PMID:16199547 PMID:17483715 PMID:17576681 PMID:19816270 PMID:20116044 PMID:21414820 PMID:22381658 PMID:23718193 PMID:23812780 PMID:24675553 PMID:24942156 PMID:25741868 PMID:26136524 PMID:28102861 PMID:28492532 PMID:29114930 More...
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NCBI chr 7:1,057,332...1,058,882
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Rpl26 |
ribosomal protein L26 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 11 |
OMIM ClinVar |
PMID:22431104 PMID:25741868 PMID:28492532 |
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 |
ClinVar |
PMID:23812780 PMID:25741868 PMID:28492532 |
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NCBI chr15:7,492,806...7,503,828
Ensembl chr15:7,493,531...7,503,854
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Rpl15 |
ribosomal protein L15 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 12 |
OMIM ClinVar |
PMID:23812780 PMID:25741868 PMID:28492532 |
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NCBI chr15:7,503,883...7,507,166
Ensembl chr15:7,503,883...7,507,165
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Rps29 |
ribosomal protein S29 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 13 |
OMIM ClinVar |
PMID:24829207 PMID:25741868 PMID:28492532 |
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NCBI chr 6:87,635,229...87,636,605
Ensembl chr 6:87,635,230...87,636,636
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Tsr2 |
TSR2, ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis |
OMIM ClinVar |
PMID:11424144 PMID:24942156 PMID:25741868 PMID:28492532 |
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NCBI chr X:20,064,102...20,072,673
Ensembl chr X:20,064,103...20,072,620
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LOC100361854 |
ribosomal protein S26-like |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
ClinVar |
PMID:17483715 PMID:19816270 PMID:23718193 PMID:24675553 PMID:24942156 PMID:28492532 More...
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NCBI chr X:107,822,116...107,822,555
Ensembl chr X:107,822,178...107,822,525
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Rps26 |
ribosomal protein S26 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
ClinVar |
PMID:17483715 PMID:19816270 PMID:23718193 PMID:24675553 PMID:24942156 PMID:28492532 More...
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NCBI chr 7:1,057,332...1,058,882
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Rps28 |
ribosomal protein S28 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
OMIM ClinVar |
PMID:24942156 PMID:25741868 |
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NCBI chr 7:14,607,801...14,609,170
Ensembl chr 7:14,607,801...14,609,170
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Tsr2 |
TSR2, ribosome maturation factor |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis |
ClinVar |
PMID:11424144 PMID:24942156 |
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 16 |
OMIM ClinVar |
PMID:25424902 PMID:25741868 |
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NCBI chr10:86,375,511...86,379,210
Ensembl chr10:86,375,454...86,379,193
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Rps27 |
ribosomal protein S27 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 |
OMIM ClinVar |
PMID:25424902 PMID:25741868 |
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 18 |
ClinVar OMIM |
PMID:28280134 |
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 |
ClinVar OMIM |
PMID:28280134 |
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 20 |
ClinVar OMIM |
PMID:27909223 |
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-blackfan anemia 21 |
OMIM ClinVar |
PMID:25741868 PMID:35213692 |
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 |
ClinVar |
PMID:25741868 |
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NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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Rps24 |
ribosomal protein S24 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 3 |
OMIM ClinVar |
PMID:17186470 PMID:23812780 PMID:25741868 PMID:26845104 PMID:27329125 PMID:28492532 PMID:29748317 PMID:30228860 More...
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NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279
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Rps17 |
ribosomal protein S17 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 4 |
OMIM ClinVar |
PMID:17647292 PMID:19953637 PMID:23718193 PMID:23812780 PMID:25741868 |
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NCBI chr 1:135,295,920...135,298,506
Ensembl chr 1:135,295,919...135,298,535
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Iqcg |
IQ motif containing G |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 |
ClinVar |
PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28166811 PMID:28492532 More...
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NCBI chr11:67,730,117...67,771,170
Ensembl chr11:67,730,247...67,771,168
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Rpl35a |
ribosomal protein L35A |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 5 DNA:deletions, duplication:multiple (human) DNA:deletions, snps:multiple (human) |
OMIM ClinVar RGD |
PMID:16199547 PMID:18535205 PMID:22262766 PMID:22689679 PMID:25424902 PMID:25741868 PMID:25946618 PMID:28166811 PMID:28492532 PMID:22689679 PMID:18535205 More...
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RGD:11535072, RGD:11535069 |
NCBI chr11:67,726,034...67,730,023
Ensembl chr11:67,726,032...67,729,942
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Dipk1a |
divergent protein kinase domain 1A |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 |
ClinVar |
PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:28492532 PMID:28991257 More...
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NCBI chr14:1,772,412...1,843,508
Ensembl chr14:1,772,422...1,843,743
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Rpl5 |
ribosomal protein L5 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 6 DNA:mutations:multiple (human) DNA:snps, deletions, insertions:exons, introns:multiple (human) DNA:snp, insertion, deletion:exons:g.3G>T, g.37_38insT, g.473_474delAA (human) DNA:insertion, nonsense mutation, deletion:cds:c.197_198insA, c.390C>G, c.169-172delAACA (human) DNA:snps, duplication, deletions:exons:multiple (human) |
OMIM ClinVar RGD |
PMID:19061985 PMID:19191325 PMID:19773262 PMID:20054847 PMID:20960466 PMID:23718193 PMID:23744582 PMID:25741868 PMID:25946618 PMID:28492532 PMID:28991257 PMID:25946618 PMID:19061985 PMID:19773262 PMID:20378560 PMID:25132370 PMID:19191325 More...
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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 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 7 DNA:deletions, snp:exons:c.60_61delCT, c.65delT, c.223C>T (human) DNA:mutations:multiple (human) DNA:deletions:exons:g.58_59delCT, g.460delA (human) DNA:deletions, snp:exons, introns:multiple (human) DNA:missense mutation, nonsense mutation:cds:p.L20H, p.Y119X (human) |
OMIM ClinVar RGD |
PMID:19061985 PMID:23718193 PMID:25741868 PMID:28492532 PMID:30503522 PMID:26489471 PMID:25946618 PMID:19061985 PMID:20378560 PMID:19773262 PMID:19191325 More...
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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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Rps7 |
ribosomal protein S7 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 8 |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:19061985 PMID:23718193 PMID:25424902 PMID:25741868 PMID:27882484 PMID:28102861 PMID:28492532 More...
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NCBI chr 6:45,266,200...45,271,064
Ensembl chr 6:45,223,980...45,271,145
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LOC100361240 |
ribosomal protein S10-like |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 |
ClinVar |
PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 |
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NCBI chr15:18,308,287...18,309,139
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G |
Rps10 |
ribosomal protein S10 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia 9 |
OMIM ClinVar |
PMID:20116044 PMID:23718193 PMID:25741868 PMID:28492532 |
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NCBI chr20:5,694,313...5,698,922
Ensembl chr20:5,694,313...5,699,044
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Epo |
erythropoietin |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia-like |
ClinVar OMIM |
PMID:28283061 |
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NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Ikzf1 |
IKAROS family zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Diamond-Blackfan anemia-like |
ClinVar |
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NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr 6:25,292,133...25,315,176
Ensembl chr 6:25,292,133...25,319,861
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G |
Dhodh |
dihydroorotate dehydrogenase (quinone) |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
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G |
Umps |
uridine monophosphate synthetase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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G |
Atg2b |
autophagy related 2B |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015
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G |
Bdkrb1 |
bradykinin receptor B1 |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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G |
Bdkrb2 |
bradykinin receptor B2 |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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G |
Calr |
calreticulin |
severity |
ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 DNA:mutations:multiple (human) |
OMIM ClinVar RGD |
PMID:24325356 PMID:24325359 PMID:25741868 PMID:24496303 PMID:25860380 |
RGD:11352751, RGD:11352747 |
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G |
Cd36 |
CD36 molecule |
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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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G |
Cd40lg |
CD40 ligand |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:22196954 |
RGD:11344979 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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G |
Cux2 |
cut-like homeobox 2 |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
PMID:20404132 PMID:25741868 |
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NCBI chr12:34,507,723...34,707,581
Ensembl chr12:34,520,959...34,705,806
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G |
Elane |
elastase, neutrophil expressed |
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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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G |
Fgf2 |
fibroblast growth factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Gskip |
GSK3B interacting protein |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100
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G |
Jak2 |
Janus kinase 2 |
severity |
ISO |
DNA:mutation: :p.V617F (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 PMID:19636672 PMID:20434300 PMID:21942426 PMID:23130336 More...
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RGD:10449178 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
LOC100909954 |
uncharacterized LOC100909954 |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,365,466...124,398,449
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G |
Mpl |
MPL proto-oncogene, thrombopoietin receptor |
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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:11133753 PMID:14764528 PMID:15269348 PMID:15531462 PMID:16199547 PMID:16470591 PMID:17054430 PMID:17666371 PMID:18451306 PMID:18528423 PMID:19483125 PMID:19608689 PMID:20151976 PMID:21489838 PMID:23970983 PMID:24033266 PMID:24728327 PMID:25741868 PMID:27069254 PMID:28492532 PMID:28697167 PMID:31064749 PMID:14764528 PMID:11122159 More...
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RGD:10449014, RGD:10449016 |
NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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G |
Myb |
MYB proto-oncogene, transcription factor |
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ISS |
OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 |
MouseDO |
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NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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G |
Pdgfa |
platelet derived growth factor subunit A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Sh2b3 |
SH2B adaptor protein 3 |
|
ISO |
ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1 |
OMIM ClinVar |
PMID:15705783 PMID:20404132 PMID:25741868 PMID:27651169 PMID:28484264 PMID:29590070 More...
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NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616
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G |
Tcl1a |
Tcl1 family Akt coactivator A |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Thpo |
thrombopoietin |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 DNA:mutation:splice junction: |
OMIM ClinVar RGD |
PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:19553636 PMID:22194398 PMID:25741868 PMID:28492532 PMID:28955303 PMID:32430933 PMID:9425899 More...
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RGD:1580083 |
Ensembl chr11:80,182,820...80,188,167
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
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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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G |
Vwf |
von Willebrand factor |
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ISO |
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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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G |
Irf8 |
interferon regulatory factor 8 |
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ISS |
OMIM:600080 |
MouseDO |
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NCBI chr19:48,790,483...48,812,363
Ensembl chr19:48,790,588...48,811,829
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G |
Epor |
erythropoietin receptor |
no_association |
ISO |
ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign DNA:deletion mutation:exon: DNA:nonsense mutation:exon:5881G>T(human) DNA:nonsense mutation:cds:6002G>A(human) DNA:nonsense mutation:cds:1251G>T(human) |
OMIM ClinVar 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...
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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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G |
Insl6 |
insulin-like 6 |
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ISO |
ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign |
ClinVar |
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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G |
Jak2 |
Janus kinase 2 |
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ISO |
ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign |
OMIM ClinVar |
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Sh2b3 |
SH2B adaptor protein 3 |
|
ISO |
ClinVar Annotator: match by term: Erythrocytosis autosomal dominant benign |
OMIM ClinVar |
PMID:15705783 PMID:20843259 PMID:25741868 PMID:27651169 PMID:28484264 PMID:29590070 More...
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NCBI chr12:34,749,849...34,753,616
Ensembl chr12:34,731,911...34,753,616
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G |
Brk1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
|
ISO |
ClinVar Annotator: match by term: Chuvash polycythemia |
ClinVar |
PMID:8634692 PMID:10567493 PMID:10830910 PMID:17537157 PMID:19280651 PMID:19764026 PMID:20567917 PMID:28492532 More...
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NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
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G |
Fancd2 |
FA complementation group D2 |
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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...
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NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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G |
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...
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NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
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G |
Jak2 |
Janus kinase 2 |
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ISO |
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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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G |
Vhl |
von Hippel-Lindau tumor suppressor |
|
ISO |
ClinVar Annotator: match by term: Chuvash polycythemia |
OMIM ClinVar |
PMID:1056348 PMID:2844285 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:8641976 PMID:8707293 PMID:8730290 PMID:8772572 PMID:8825918 PMID:8825919 PMID:8863170 PMID:8956040 PMID:9058738 PMID:9156047 PMID:9209471 PMID:9215674 PMID:9329368 PMID:9398721 PMID:9399847 PMID:9435426 PMID:9452032 PMID:9463336 PMID:9536098 PMID:9663592 PMID:9671762 PMID:9681856 PMID:9751722 PMID:9770531 PMID:9829911 PMID:9829912 PMID:9880225 PMID:10088816 PMID:10102622 PMID:10326868 PMID:10340905 PMID:10364675 PMID:10408776 PMID:10458336 PMID:10563480 PMID:10567493 PMID:10570625 PMID:10587522 PMID:10612827 PMID:10612832 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:11160785 PMID:11257211 PMID:11309459 PMID:11331612 PMID:11331613 PMID:11409863 PMID:11483638 PMID:11505222 PMID:11536052 PMID:11688398 PMID:11709017 PMID:11739384 PMID:11865071 PMID:11896624 PMID:11921283 PMID:11986208 PMID:11987242 PMID:12000816 PMID:12004076 PMID:12050673 PMID:12081237 PMID:12114475 PMID:12114495 PMID:12202531 PMID:12351569 PMID:12393546 PMID:12414898 PMID:12415268 PMID:12500216 PMID:12510195 PMID:12538644 PMID:12624160 PMID:12629069 PMID:12702509 PMID:12807974 PMID:12844285 PMID:12853836 PMID:12912922 PMID:13985160 PMID:14500403 PMID:14556007 PMID:14604959 PMID:14691445 PMID:14722919 PMID:14726398 PMID:14767570 PMID:14965365 PMID:14973063 PMID:14987375 PMID:15109448 PMID:15177666 PMID:15241800 PMID:15300849 PMID:15574766 PMID:15607616 PMID:15611064 PMID:15642664 PMID:15642680 PMID:15881703 PMID:15921368 PMID:15921386 PMID:15932632 PMID:16142346 PMID:16199547 PMID:16210343 PMID:16261165 PMID:16314641 PMID:16452184 PMID:16488999 PMID:16502427 PMID:16505488 PMID:16572651 PMID:16595991 PMID:16775032 PMID:16809612 PMID:16847331 PMID:16884327 PMID:16884328 PMID:16952288 PMID:16969113 PMID:17001110 PMID:17024664 PMID:17102069 PMID:17102080 PMID:17102082 PMID:17102087 PMID:17102088 PMID:17159241 PMID:17264095 PMID:17350623 PMID:17392848 PMID:17406817 PMID:17407064 PMID:17526729 PMID:17537157 PMID:17576681 PMID:17640059 PMID:17661816 PMID:17688370 PMID:17906660 PMID:17919893 PMID:17922902 PMID:17992257 PMID:18195360 PMID:18205710 PMID:18209888 PMID:18446368 PMID:18544564 PMID:18551016 PMID:18567581 PMID:18580449 PMID:18584357 PMID:18676741 PMID:18836774 PMID:18928468 PMID:19009041 PMID:19029228 PMID:19030229 PMID:19215943 PMID:19228690 PMID:19252526 PMID:19270817 PMID:19280651 PMID:19293973 PMID:19304954 PMID:19336503 PMID:19408298 PMID:19464396 PMID:19494350 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:20120764 PMID:20151405 PMID:20223044 PMID:20233476 PMID:20351605 PMID:20388653 PMID:20447124 PMID:20518900 PMID:20567917 PMID:20583150 PMID:20660572 PMID:20846682 PMID:20855504 PMID:20952280 PMID:21204227 PMID:21258414 PMID:21362373 PMID:21384277 PMID:21389259 PMID:21449869 PMID:21454469 PMID:21463266 PMID:21606165 PMID:21685897 PMID:21713522 PMID:21715564 PMID:21784903 PMID:21876117 PMID:21972040 PMID:21993671 PMID:22071692 PMID:22105611 PMID:22105711 PMID:22156657 PMID:22234250 PMID:22241717 PMID:22357542 PMID:22393103 PMID:22438210 PMID:22462637 PMID:22517557 PMID:22649785 PMID:22683710 PMID:22703879 PMID:22799452 PMID:22825683 PMID:23015148 PMID:23036577 PMID:23070752 PMID:23102223 PMID:23143947 PMID:23224817 PMID:23315997 PMID:23318261 PMID:23327821 PMID:23384228 PMID:23397066 PMID:23403324 PMID:23407919 PMID:23434161 PMID:23512077 PMID:23538339 PMID:23541568 PMID:23606570 PMID:23626751 PMID:23660872 PMID:23673869 PMID:23772956 PMID:23788753 PMID:23840444 PMID:23842656 PMID:23845641 PMID:23859443 PMID:23990664 PMID:23990666 PMID:24033266 PMID:24055113 PMID:24102379 PMID:24115288 PMID:24132471 PMID:24134185 PMID:24206762 PMID:24301059 PMID:24335534 PMID:24339559 PMID:24446253 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:25078357 PMID:25119015 PMID:25157968 PMID:25310726 PMID:25371412 PMID:25405498 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:26228213 PMID:26268347 PMID:26323595 PMID:26332594 PMID:26467025 PMID:26503325 PMID:26580448 PMID:26622630 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26934580 PMID:26957611 PMID:27034144 PMID:27057652 PMID:27146957 PMID:27311873 PMID:27439424 PMID:27498913 PMID:27527340 PMID:27530247 PMID:27539324 PMID:27617348 PMID:27651169 PMID:27682873 PMID:27730413 PMID:27785399 PMID:27811160 PMID:28052007 PMID:28202063 PMID:28288108 PMID:28379443 PMID:28388566 PMID:28432847 PMID:28454591 PMID:28469506 PMID:28492532 PMID:28503092 PMID:28643803 PMID:28724667 PMID:28775317 PMID:28873162 PMID:28944243 PMID:28951115 PMID:28973655 PMID:29022557 PMID:29124493 PMID:29294023 PMID:29595810 PMID:29607586 PMID:29616089 PMID:29625052 PMID:29662268 PMID:29684080 PMID:29748190 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:30338240 PMID:30877234 PMID:30900640 PMID:30902965 PMID:30943211 PMID:30946460 PMID:31034483 PMID:31132167 PMID:31149315 PMID:31159747 PMID:31337753 PMID:31350093 PMID:31368132 PMID:31383958 PMID:31397861 PMID:31447099 PMID:31528828 PMID:31538058 PMID:31620170 PMID:31666924 PMID:31779674 PMID:32101665 PMID:32106822 PMID:32238909 PMID:32420132 PMID:32671223 PMID:33004005 PMID:33151962 PMID:33362715 PMID:33720516 PMID:33840814 PMID:33938902 PMID:34109129 PMID:34439168 PMID:34566400 More...
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NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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G |
Egln1 |
egl-9 family hypoxia-inducible factor 1 |
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ISO |
ClinVar Annotator: match by term: Erythrocytosis, familial, 3 |
OMIM ClinVar |
PMID:9536098 PMID:16407130 PMID:17576681 PMID:17579185 PMID:19092153 PMID:24115288 PMID:24482100 PMID:25741868 PMID:28166811 PMID:28492532 PMID:29741264 PMID:29790589 More...
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NCBI chr19:52,867,914...52,907,169
Ensembl chr19:52,869,486...52,907,777
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G |
Epas1 |
endothelial PAS domain protein 1 |
|
ISO |
ClinVar Annotator: match by term: Erythrocytosis, familial, 4 |
OMIM ClinVar |
PMID:18184961 PMID:18378852 PMID:18508787 PMID:18650473 PMID:19208626 PMID:21389259 PMID:22367913 PMID:23716564 PMID:25741868 PMID:27292716 PMID:27651169 PMID:28492532 PMID:29790589 More...
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NCBI chr 6:7,790,236...7,871,246
Ensembl chr 6:7,790,647...7,871,228
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G |
Epo |
erythropoietin |
|
ISO |
ClinVar Annotator: match by term: Erythrocytosis, familial, 5 |
ClinVar OMIM |
PMID:27651169 PMID:29514032 |
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NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Hbb |
hemoglobin subunit beta |
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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:49057 PMID:81926 PMID:88735 PMID:234980 PMID:239863 PMID:478981 PMID:563749 PMID:639985 PMID:678476 PMID:700140 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: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:1917531 PMID:1960615 PMID:1967205 PMID:1986365 PMID:1986379 PMID:2004023 PMID:2030155 PMID:2123063 PMID:2197725 PMID:2200760 PMID:2200762 PMID:2239966 PMID:2296310 PMID:2298457 PMID:2393712 PMID:2412200 PMID:2446680 PMID:2458145 PMID:2467892 PMID:2577233 PMID:2579336 PMID:2582106 PMID:2606476 PMID:2606727 PMID:2634667 PMID:2703368 PMID:2713503 PMID:2867271 PMID:2888754 PMID:2891298 PMID:2893541 PMID:2898142 PMID:2898460 PMID:2898955 PMID:2903765 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: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: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: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:6859036 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:7908281 PMID:7993409 PMID:8095930 PMID:8144354 PMID:8168595 PMID:8199027 PMID:8199597 PMID:8201467 PMID:8262525 PMID:8330981 PMID:8373896 PMID:8435318 PMID:8454469 PMID:8462981 PMID:8518184 PMID:8602996 PMID:8619407 PMID:8701949 PMID:8718703 PMID:8839873 PMID:8917506 PMID:8954892 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:10602954 PMID:10612821 PMID:10722117 PMID:10815781 PMID:10846826 PMID:11001883 PMID:11179419 PMID:11186258 PMID:11425418 PMID:11545326 PMID:11559932 PMID:11713529 PMID:11741197 PMID:11830454 PMID:11857746 PMID:11880644 PMID:11939508 PMID:11939509 PMID:11939510 PMID:11946541 PMID:12000828 PMID:12124399 PMID:12144057 PMID:12149194 PMID:12383672 PMID:12702481 PMID:12764548 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: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:17774955 PMID:17795074 PMID:17932132 PMID:17994378 PMID:18024613 PMID:18048408 PMID:18192399 PMID:18294253 PMID:18568278 PMID:18603555 PMID:18793248 PMID:18818920 PMID:18976160 PMID:19000664 PMID:19061217 PMID:19092326 PMID:19254853 PMID:19429541 PMID:19440680 PMID:19465909 PMID:19486366 PMID:19657842 PMID:19727720 PMID:19758965 PMID:19841268 PMID:19958185 PMID:19960060 PMID:20132300 PMID:20236848 PMID:20301551 PMID:20301599 PMID:20305663 PMID:20353354 PMID:20395516 PMID:20412082 PMID:20437613 PMID:20492708 PMID:20642331 PMID:20704537 PMID:20737602 PMID:20788973 PMID:20861612 PMID:20954261 PMID:20981092 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:22244832 PMID:22260787 PMID:22271886 PMID:22335963 PMID:22392582 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:23637309 PMID:23647352 PMID:23729725 PMID:23859443 PMID:24033266 PMID:24052702 PMID:24055728 PMID:24099628 PMID:24106605 PMID:24123366 PMID:24200214 PMID:24245819 PMID:24368026 PMID:24369358 PMID:24493127 PMID:24581976 PMID:24616059 PMID:24616209 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:25480500 PMID:25488433 PMID:25525159 PMID:25572186 PMID:25617386 PMID:25666204 PMID:25741868 PMID:25849334 PMID:25856402 PMID:25976460 PMID:26029792 PMID:26041415 PMID:26044735 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:26635043 PMID:26661037 PMID:26897028 PMID:26956563 PMID:27117572 PMID:27199182 PMID:27207683 PMID:27251090 PMID:27254408 PMID:27263053 PMID:27427187 PMID:27651169 PMID:27690257 PMID:27821015 PMID:27823958 PMID:27829304 PMID:27884173 PMID:27979672 PMID:28251416 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:29319890 PMID:29484903 PMID:29695942 PMID:29790589 PMID:30002798 PMID:30033078 PMID:30249157 PMID:30315176 PMID:30423154 PMID:30604644 PMID:30843739 PMID:31096791 PMID:31130284 PMID:31132167 PMID:31134759 PMID:31268351 PMID:31304856 PMID:31388287 PMID:31456457 PMID:31553106 PMID:31589614 PMID:31714438 PMID:31718331 PMID:31890591 PMID:32039214 PMID:32126744 PMID:32190157 PMID:32472543 PMID:32527859 PMID:32581362 PMID:32860008 PMID:33091040 PMID:33116287 PMID:33851260 PMID:34092029 PMID:34334128 PMID:34426522 More...
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NCBI chr 1:158,250,421...158,251,832
Ensembl chr 1:158,120,200...158,252,012
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G |
Hba-a2 |
hemoglobin alpha, adult chain 2 |
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ISO |
ClinVar Annotator: match by term: ERYTHROCYTOSIS 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:8745434 PMID:9494049 PMID:11410420 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...
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NCBI chr10:15,323,830...15,324,677
Ensembl chr10:15,307,815...15,338,392
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G |
Hba-a3 |
hemoglobin alpha, adult chain 3 |
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ISO |
ClinVar Annotator: match by term: ERYTHROCYTOSIS 7 | ClinVar Annotator: match by term: Erythrocytosis, familial, 7 |
OMIM ClinVar |
PMID:1115799 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...
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NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481
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G |
Bpgm |
bisphosphoglycerate mutase |
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ISO |
ClinVar Annotator: match by term: Diphosphoglycerate mutase deficiency of erythrocyte DNA:point mutation, deletion: :p.R89C (human) |
OMIM ClinVar RGD |
PMID:152321 PMID:1421379 PMID:2542247 PMID:15054810 PMID:25015942 PMID:1421379 More...
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RGD:1600522 |
NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581
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G |
Gata1 |
GATA binding protein 1 |
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ISO |
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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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G |
Vps45 |
vacuolar protein sorting 45 homolog |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23599270 |
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NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295
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G |
Abca3 |
ATP binding cassette subfamily A member 3 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,382,439...13,439,748
Ensembl chr10:13,382,540...13,439,745
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G |
Adcy9 |
adenylate cyclase 9 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,138,966...11,262,067
Ensembl chr10:11,139,446...11,262,066
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G |
Alg1 |
ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,346,541...10,356,779
Ensembl chr10:10,346,536...10,356,750
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G |
Amdhd2 |
amidohydrolase domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,187,579...13,196,148
Ensembl chr10:13,187,578...13,196,095
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G |
Anks3 |
ankyrin repeat and sterile alpha motif domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
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G |
Antkmt |
adenine nucleotide translocase lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,812,274...14,814,798
Ensembl chr10:14,812,269...14,814,193
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G |
Aopep |
aminopeptidase O |
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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:15364573 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17703323 PMID:17924555 PMID:19557015 PMID:20301575 PMID:20509860 PMID:20869034 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:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:29641532 PMID:29654263 PMID:29753700 PMID:29922827 PMID:30031030 PMID:30322717 PMID:30613976 PMID:30630526 PMID:30967997 PMID:31102422 PMID:31589614 PMID:31721781 PMID:31784482 PMID:31874108 PMID:32496904 PMID:32546565 PMID:32566746 PMID:32659497 PMID:32885271 PMID:32923857 PMID:33050356 PMID:33084842 PMID:33471991 PMID:33780288 PMID:34106356 PMID:34117267 More...
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NCBI chr17:1,811,922...2,127,316
Ensembl chr17:1,811,980...2,127,331
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G |
Arhgdig |
Rho GDP dissociation inhibitor gamma |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:15,219,049...15,221,257
Ensembl chr10:15,219,049...15,221,213
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G |
Atp6v0c |
ATPase H+ transporting V0 subunit C |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,196,204...13,202,580
Ensembl chr10:13,196,204...13,201,500
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G |
Axin1 |
axin 1 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:15,163,684...15,215,615
Ensembl chr10:15,163,684...15,215,615
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G |
Baiap3 |
BAI1-associated protein 3 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,260,269...14,273,019
Ensembl chr10:14,260,269...14,273,019
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G |
Bicdl2 |
BICD family like cargo adaptor 2 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,691,610...12,700,049
Ensembl chr10:12,691,610...12,700,049
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G |
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: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:29753700 PMID:29884841 PMID:30254663 PMID:31131967 PMID:32398771 PMID:35464868 PMID:12065746 More...
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RGD:734658 |
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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G |
Bricd5 |
BRICHOS domain containing 5 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259
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G |
Brip1 |
BRCA1 interacting helicase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia |
CTD ClinVar |
PMID:2455662 PMID:16116421 PMID:16116423 PMID:16116424 PMID:16153896 PMID:17033622 PMID:18978354 PMID:19127258 PMID:19763819 PMID:20177395 PMID:20639400 PMID:21165771 PMID:21345144 PMID:21964575 PMID:22006311 PMID:24240112 PMID:24556621 PMID:25741868 PMID:25980754 PMID:26315354 PMID:26467025 PMID:26681312 PMID:26822949 PMID:26845104 PMID:26921362 PMID:26968956 PMID:27179029 PMID:28492532 PMID:29368626 PMID:32359370 PMID:32885271 PMID:33471991 PMID:34026625 PMID:34585738 More...
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NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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G |
Brk1 |
BRICK1 subunit of SCAR/WAVE actin nucleating complex |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:17436244 PMID:28492532 |
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NCBI chr 4:146,750,821...146,766,050
Ensembl chr 4:146,750,821...146,768,856
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G |
Cacna1h |
calcium voltage-gated channel subunit alpha1 H |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
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G |
Capn15 |
calpain 15 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,972,807...14,999,411
Ensembl chr10:14,972,800...14,999,508
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G |
Caskin1 |
CASK interacting protein 1 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377
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G |
Ccdc154 |
coiled-coil domain containing 154 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253
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G |
Ccdc78 |
coiled-coil domain containing 78 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,808,355...14,812,284
Ensembl chr10:14,807,710...14,812,282
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G |
Ccnf |
cyclin F |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
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G |
Cdip1 |
cell death-inducing p53 target 1 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980
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G |
Chtf18 |
chromosome transmission fidelity factor 18 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,743,006...14,751,044
Ensembl chr10:14,742,621...14,751,050
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G |
Ciao3 |
cytosolic iron-sulfur assembly component 3 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,795,888...14,804,953
Ensembl chr10:14,795,961...14,804,950
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G |
Clcn7 |
chloride voltage-gated channel 7 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130
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G |
Cldn6 |
claudin 6 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,710,302...12,713,987
Ensembl chr10:12,709,960...12,715,973
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G |
Cldn9 |
claudin 9 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,714,137...12,715,568
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G |
Cluap1 |
clusterin associated protein 1 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
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G |
Coro7 |
coronin 7 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001
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G |
Cramp1 |
cramped chromatin regulator homolog 1 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,983,781...14,032,409
Ensembl chr10:13,983,866...14,032,392
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G |
Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Decr2 |
2,4-dienoyl-CoA reductase 2 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:15,104,907...15,113,281
Ensembl chr10:15,002,926...15,118,479
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G |
Dnaaf8 |
dynein axonemal assembly factor 8 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891
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G |
Dnaja3 |
DnaJ heat shock protein family (Hsp40) member A3 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,855,510...10,880,175
Ensembl chr10:10,854,732...10,880,161
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G |
Dnase1 |
deoxyribonuclease 1 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869
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G |
Dnase1l2 |
deoxyribonuclease 1 like 2 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763
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G |
E4f1 |
E4F transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974
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G |
Eci1 |
enoyl-CoA delta isomerase 1 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061
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G |
Eef2kmt |
eukaryotic elongation factor 2 lysine methyltransferase |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,336,933...10,349,463
Ensembl chr10:10,336,974...10,347,039
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G |
Elob |
elongin B |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,848,830...12,853,897
Ensembl chr10:12,848,827...12,853,635
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G |
Eme2 |
essential meiotic structure-specific endonuclease subunit 2 |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968
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G |
Fahd1 |
fumarylacetoacetate hydrolase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012
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G |
Fam234a |
family with sequence similarity 234, member A |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:15,232,267...15,263,529
Ensembl chr10:15,232,278...15,263,488
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G |
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 CTD Direct Evidence: marker/mechanism DNA:deletions, transitions:exon, intron:multiple |
ClinVar CTD RGD |
PMID:1792455 PMID:1927896 PMID:2472832 PMID:08896563 PMID:09371798 PMID:09399890 PMID:9536098 PMID:9711872 PMID:9721219 PMID:9929978 PMID:10090479 PMID:10094191 PMID:10373536 PMID:10521298 PMID:10807541 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:17576681 PMID:17726045 PMID:17924555 PMID:18414213 PMID:19278965 PMID:19367192 PMID:19423727 PMID:19763152 PMID:20301575 PMID:20307669 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:24349332 PMID:24584348 PMID:24689079 PMID:24704046 PMID:24728327 PMID:24793135 PMID:24989076 PMID:25168418 PMID:25239263 PMID:25525159 PMID:25533962 PMID:25583207 PMID:25640679 PMID:25703136 PMID:25741868 PMID:25751062 PMID:25953249 PMID:26136524 PMID:26140431 PMID:26181256 PMID:26296701 PMID:26467025 PMID:26492932 PMID:26556299 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26799702 PMID:26841305 PMID:27041517 PMID:27148581 PMID:27577878 PMID:27701467 PMID:27733357 PMID:27997549 PMID:28102861 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:28973083 PMID:29093742 PMID:29098742 PMID:29247345 PMID:29269525 PMID:29621589 PMID:29625052 PMID:29641532 PMID:29797310 PMID:29904161 PMID:30031030 PMID:30032139 PMID:30057198 PMID:30086788 PMID:30268473 PMID:30792206 PMID:30919572 PMID:31030435 PMID:31102422 PMID:31192125 PMID:31259830 PMID:31432501 PMID:31558676 PMID:31586946 PMID:31589614 PMID:31655866 PMID:31721781 PMID:32098966 PMID:32268276 PMID:32487094 PMID:32546565 PMID:32659497 PMID:32659967 PMID:32850347 PMID:32947577 PMID:33172906 PMID:33224012 PMID:33679882 PMID:33686268 PMID:33718801 PMID:34008892 PMID:34130653 PMID:34250406 PMID:34422195 PMID:34512202 PMID:34585473 PMID:34864095 PMID:34906502 PMID:15523645 PMID:12827451 PMID:11110674 More...
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RGD:11344899, RGD:11344919, RGD:11344914 |
NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527
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G |
Fancb |
FA complementation group B |
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ISO |
ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia |
ClinVar |
PMID:9536098 PMID:15502827 PMID:17576681 PMID:23613520 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32410215 PMID:32546565 More...
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NCBI chr X:29,403,771...29,420,484
Ensembl chr X:29,403,771...29,420,192
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G |
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 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: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:11050007 PMID:11110674 PMID:11427142 PMID:11520787 PMID:12093742 PMID:12649160 PMID:12670332 PMID:12750283 PMID:14695169 PMID:14726700 PMID:15364573 PMID:15516848 PMID:15695377 PMID:16199547 PMID:16429406 PMID:16445838 PMID:17576681 PMID:17909071 PMID:17924555 PMID:19622403 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: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:27133164 PMID:27153395 PMID:27577878 PMID:28125075 PMID:28125078 PMID:28259476 PMID:28425259 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:28873162 PMID:29038235 PMID:29360161 PMID:29439820 PMID:29625052 PMID:29641532 PMID:29643063 PMID:29654263 PMID:29719599 PMID:29753700 PMID:29922827 PMID:30031030 PMID:30093976 PMID:30306255 PMID:30322717 PMID:30613976 PMID:30630526 PMID:30676620 PMID:30967997 PMID:31102422 PMID:31300551 PMID:31558676 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:33083949 PMID:33084842 PMID:33471991 PMID:33780288 PMID:34106356 PMID:34117267 PMID:16429406 PMID:11110674 More...
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RGD:11041907, RGD:11344914 |
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
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G |
Fancd2 |
FA complementation group D2 |
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ISO |
DNA:missense mutations, nonsense mutation, splice-site mutation: :multiple ClinVar Annotator: match by term: Fanconi anemia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9536098 PMID:11239453 PMID:14667412 PMID:16199547 PMID:16280053 PMID:17436244 PMID:17576681 PMID:21356188 PMID:23285130 PMID:23613520 PMID:24033266 PMID:24728327 PMID:25741868 PMID:25927356 PMID:26580448 PMID:26633542 PMID:26740942 PMID:27041517 PMID:27153395 PMID:27931139 PMID:28492532 PMID:28678401 PMID:29625052 PMID:29659569 PMID:30250602 PMID:30256826 PMID:30306255 PMID:30713837 PMID:31586946 PMID:32546565 PMID:32659967 PMID:33558524 PMID:11239453 PMID:19287902 More...
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RGD:1601137, RGD:11344904 |
NCBI chr 4:146,679,014...146,743,422
Ensembl chr 4:146,679,179...146,743,412
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G |
Fancd2os |
FANCD2 opposite strand |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:9536098 PMID:16199547 PMID:16280053 PMID:17436244 PMID:17576681 PMID:23285130 PMID:24728327 PMID:25741868 PMID:25927356 PMID:28492532 PMID:29625052 PMID:30250602 PMID:30256826 PMID:31586946 PMID:32546565 More...
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NCBI chr 4:146,740,863...146,747,547
Ensembl chr 4:146,740,863...146,747,569
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G |
Fance |
FA complementation group E |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:24728327 PMID:25741868 PMID:28492532 PMID:32546565 PMID:33326660 |
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NCBI chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631
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G |
Fancf |
FA complementation group F |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:9382107 PMID:10615118 PMID:16084127 PMID:16774934 PMID:17924555 PMID:18271933 PMID:24728327 PMID:25741868 PMID:27714961 PMID:28259476 PMID:28492532 PMID:29625052 PMID:30256826 PMID:30262796 PMID:30995915 PMID:31882575 PMID:34117267 More...
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NCBI chr 1:101,449,120...101,452,361
Ensembl chr 1:101,450,389...101,451,923
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G |
Fancg |
FA complementation group G |
|
ISO |
FANCG, OMIM:602956 ClinVar Annotator: match by term: Fanconi 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: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:22778927 PMID:23067021 PMID:23613520 PMID:24033266 PMID:24584348 PMID:24728327 PMID:24763404 PMID:24989076 PMID:25703136 PMID:25741868 PMID:26689913 PMID:27041517 PMID:28024295 PMID:28102861 PMID:28202063 PMID:28492532 PMID:28678401 PMID:28717661 PMID:28767289 PMID:29905759 PMID:30031030 PMID:31558676 PMID:32546565 PMID:33563768 PMID:9806548 More...
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RGD:1599879 |
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
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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 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:17950645 PMID:17980715 PMID:18414213 PMID:18991199 PMID:19010300 PMID:19737859 PMID:19763152 PMID:20307669 PMID:20691285 PMID:20971953 PMID:21038416 PMID:21228398 PMID:22406018 PMID:22720145 PMID:23613520 PMID:23783014 PMID:24033266 PMID:24989076 PMID:25462018 PMID:25741868 PMID:25927356 PMID:26104464 PMID:26296701 PMID:26467025 PMID:26590883 PMID:28492532 PMID:28678401 PMID:28878254 PMID:29891941 PMID:30076350 PMID:30303537 PMID:30773290 PMID:31470354 PMID:32546565 PMID:34585473 PMID:34861889 PMID:26590883 More...
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RGD:11344925 |
NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
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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 anemia | ClinVar Annotator: match by term: Fanconi pancytopenia |
CTD ClinVar |
PMID:9536098 PMID:12973351 PMID:16199547 PMID:17576681 PMID:19405097 PMID:21279724 PMID:23613520 PMID:24033266 PMID:25239263 PMID:25659033 PMID:25741868 PMID:25754594 PMID:26149689 PMID:26822237 PMID:26822949 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:31942411 PMID:31980526 PMID:32008151 PMID:32235514 PMID:32420600 PMID:32789750 PMID:34008892 PMID:34647594 More...
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NCBI chr14:100,249,733...100,317,958
Ensembl chr14:100,248,875...100,314,255
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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 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:22406018 PMID:23932590 PMID:24003026 PMID:25288723 PMID:25640679 PMID:25741868 PMID:26067930 PMID:26094658 PMID:26130695 PMID:26296701 PMID:26467025 PMID:26483394 PMID:26580448 PMID:26689913 PMID:26740942 PMID:26822949 PMID:27626068 PMID:27913932 PMID:28033443 PMID:28492532 PMID:28678401 PMID:28702895 PMID:28715532 PMID:28717660 PMID:28837157 PMID:28837162 PMID:28881617 PMID:29231814 PMID:29287190 PMID:29351780 PMID:29625052 PMID:29641532 PMID:29895858 PMID:30075111 PMID:30426508 PMID:30613976 PMID:30676620 PMID:30995915 PMID:31263571 PMID:31428572 PMID:31700994 PMID:31991861 PMID:32235514 PMID:32268276 PMID:32566746 PMID:32868804 PMID:32906206 PMID:33471991 PMID:34174131 More...
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NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
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G |
Fbxl16 |
F-box and leucine-rich repeat protein 16 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:14,829,453...14,841,739
Ensembl chr10:14,829,449...14,840,986
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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
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G |
Flywch1 |
FLYWCH-type zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,774,644...12,794,373
Ensembl chr10:12,774,653...12,794,267
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G |
Flywch2 |
FLYWCH family member 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,798,757...12,807,082
Ensembl chr10:12,798,762...12,806,439
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G |
Gfer |
growth factor, augmenter of liver regeneration |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869
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G |
Glis2 |
GLIS family zinc finger 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
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G |
Glyr1 |
glyoxylate reductase 1 homolog |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,532,036...10,567,639
Ensembl chr10:10,532,154...10,567,637
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G |
Gng13 |
G protein subunit gamma 13 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,741,179...14,743,083
Ensembl chr10:14,741,239...14,743,083
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G |
Gnptg |
N-acetylglucosamine-1-phosphate transferase subunit gamma |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096
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G |
Gstm1 |
glutathione S-transferase mu 1 |
disease_progression |
ISO |
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RGD |
PMID:16173971 |
RGD:10450839 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstt1 |
glutathione S-transferase theta 1 |
treatment |
ISO |
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RGD |
PMID:16173971 |
RGD:10450839 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Hagh |
hydroxyacyl glutathione hydrolase |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504
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G |
Haghl |
hydroxyacylglutathione hydrolase-like |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,804,957...14,809,495
Ensembl chr10:14,804,997...14,807,665
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G |
Hcfc1r1 |
host cell factor C1 regulator 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,705,139...12,706,852
Ensembl chr10:12,705,077...12,706,850
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G |
Hmox2 |
heme oxygenase 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148
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G |
Hs3st6 |
heparan sulfate-glucosamine 3-sulfotransferase 6 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133
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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
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G |
Ift140 |
intraflagellar transport 140 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433
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G |
Igfals |
insulin-like growth factor binding protein, acid labile subunit |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677
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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
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G |
Jmjd8 |
jumonji domain containing 8 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879
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G |
Jpt2 |
Jupiter microtubule associated homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,963,135...13,983,212
Ensembl chr10:13,963,137...13,983,170
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G |
Kctd5 |
potassium channel tetramerization domain containing 5 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,079,216...13,105,197
Ensembl chr10:13,079,214...13,105,209
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G |
Kremen2 |
kringle containing transmembrane protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:12,763,345...12,767,854
Ensembl chr10:12,763,397...12,767,854
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G |
Lmf1 |
lipase maturation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119
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G |
LOC100361104 |
CG10869-like |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:10,707,529...10,750,893
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G |
Luc7l |
LUC7-like |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:15,273,340...15,307,131
Ensembl chr10:15,273,348...15,303,112
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G |
Mapk8ip3 |
mitogen-activated protein kinase 8 interacting protein 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:13,918,417...13,958,335
Ensembl chr10:13,918,400...13,958,273
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G |
Mc1r |
melanocortin 1 receptor |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:9721219 PMID:28492532 PMID:29098742 |
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NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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G |
Mcrip2 |
MAPK regulated co-repressor interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
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NCBI chr10:14,883,813...14,888,784
Ensembl chr10:14,883,813...14,894,021
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G |
Mefv |
MEFV innate immunity regulator, pyrin |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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G |
Meiob |
meiosis specific with OB-fold |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046
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G |
Metrn |
meteorin, glial cell differentiation regulator |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:14,816,684...14,818,702
Ensembl chr10:14,816,572...14,818,701
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G |
Mettl26 |
methyltransferase like 26 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:14,894,574...14,908,067
Ensembl chr10:14,894,581...14,905,851
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G |
Mgrn1 |
mahogunin ring finger 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315
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G |
Mlst8 |
MTOR associated protein, LST8 homolog |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128
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G |
Mmp25 |
matrix metallopeptidase 25 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,661,297...12,676,119
Ensembl chr10:12,661,208...12,675,871
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G |
Mrpl28 |
mitochondrial ribosomal protein L28 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:15,148,670...15,151,581
Ensembl chr10:15,148,681...15,151,581
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G |
Mrps34 |
mitochondrial ribosomal protein S34 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406
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G |
Msln |
mesothelin |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643
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G |
Msrb1 |
methionine sulfoxide reductase B1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,764,883...13,770,609
Ensembl chr10:13,764,883...13,770,609
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G |
Mx1 |
MX dynamin like GTPase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9389754 |
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NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
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G |
Naa60 |
N(alpha)-acetyltransferase 60, NatF catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,622,554...11,653,078
Ensembl chr10:11,587,916...11,642,755
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G |
Nagpa |
N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,380,262...10,388,609
Ensembl chr10:10,380,264...10,388,592
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|
G |
Ndufb10 |
NADH:ubiquinone oxidoreductase subunit B10 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,749,273...13,751,434
Ensembl chr10:13,749,275...13,751,442
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G |
Nherf2 |
NHERF family PDZ scaffold protein 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049
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G |
Nhlrc4 |
NHL repeat containing 4 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
|
|
G |
Nlrc3 |
NLR family, CARD domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,551,378...11,585,027
Ensembl chr10:11,551,356...11,584,398
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|
G |
Nme3 |
NME/NM23 nucleoside diphosphate kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,917,309...13,918,415
Ensembl chr10:13,917,403...13,918,359
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|
G |
Nme4 |
NME/NM23 nucleoside diphosphate kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:15,114,624...15,118,479
Ensembl chr10:15,002,926...15,118,479
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|
G |
Nmral1 |
NmrA like redox sensor 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192
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G |
Noxo1 |
NADPH oxidase organizer 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,721,473...13,726,061
Ensembl chr10:13,721,473...13,726,061
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G |
Npw |
neuropeptide W |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,680,275...13,681,618
Ensembl chr10:13,680,321...13,681,586
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|
G |
Nthl1 |
nth-like DNA glycosylase 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957
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G |
Ntn3 |
netrin 3 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001
|
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G |
Nubp2 |
NUBP iron-sulfur cluster assembly factor 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,903,224...13,906,928
Ensembl chr10:13,903,224...13,906,969
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G |
Nudt16l1 |
nudix hydrolase 16 like 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370
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G |
Or1f34 |
olfactory receptor family 1 subfamily F member 34 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,333,860...12,334,801
Ensembl chr10:12,333,860...12,334,801
|
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G |
Or2c1 |
olfactory receptor family 2 subfamily C member 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:11,682,890...11,683,828
Ensembl chr10:11,681,001...11,692,105
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|
G |
Palb2 |
partner and localizer of BRCA2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:17200668 PMID:18302019 PMID:24136930 PMID:25099575 PMID:25741868 PMID:26467025 PMID:26564480 PMID:28492532 More...
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NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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G |
Pam16 |
presequence translocase associated motor 16 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649
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G |
Paqr4 |
progestin and adipoQ receptor family member 4 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,758,970...12,762,649
Ensembl chr10:12,758,972...12,762,584
|
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G |
Pdia2 |
protein disulfide isomerase family A, member 2 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:15,215,824...15,218,937
Ensembl chr10:15,215,824...15,220,931
|
|
G |
Pdpk1 |
3-phosphoinositide dependent protein kinase-1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,105,435...13,182,664
Ensembl chr10:13,105,498...13,174,623
|
|
G |
Pgap6 |
post-GPI attachment to proteins 6 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:15,138,918...15,151,581
Ensembl chr10:15,138,959...15,148,431
|
|
G |
Pgp |
phosphoglycolate phosphatase |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858
|
|
G |
Pigq |
phosphatidylinositol glycan anchor biosynthesis, class Q |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584
|
|
G |
Pkd1 |
polycystin 1, transient receptor potential channel interacting |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128
|
|
G |
Pkmyt1 |
protein kinase, membrane associated tyrosine/threonine 1 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:12,748,221...12,758,995
Ensembl chr10:12,748,237...12,758,995
|
|
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:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:28492532 PMID:28678401 More...
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|
NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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|
G |
Ppl |
periplakin |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
PMID:28492532 |
|
NCBI chr10:10,450,919...10,496,575
Ensembl chr10:10,450,919...10,496,575
|
|
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 |
Prr35 |
proline rich 35 |
|
ISO |
ClinVar Annotator: match by term: Fanconi anemia |
ClinVar |
| |