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: | Hematologic Neoplasms |
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Accession: | DOID:9006532
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browse the term
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Definition: | Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). The commonest forms are the various types of LEUKEMIA, of LYMPHOMA, and of the progressive, life-threatening forms of the MYELODYSPLASTIC SYNDROMES. |
Synonyms: | exact_synonym: | Hematological Neoplasms; Hematopoietic Malignancies; Hematopoietic Malignancy; hematologic neoplasm; hematological neoplasm; hematopoietic neoplasm; hematopoietic neoplasms |
| narrow_synonym: | Common Hematopoietic Neoplasm |
| primary_id: | MESH:D019337 |
| xref: | EFO:1000201 |
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Abcb1a |
ATP binding cassette subfamily B member 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22311042 |
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NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
susceptibility |
ISO |
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RGD |
PMID:19274076 |
RGD:11100003 |
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Cbl |
Cbl proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Hematologic neoplasm |
ClinVar |
PMID:19571318 PMID:20543203 PMID:20694012 PMID:23696637 PMID:24803665 PMID:25283271 PMID:25741868 PMID:25952305 PMID:28414188 PMID:28492532 PMID:32933826 More...
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NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Csf1r |
colony stimulating factor 1 receptor |
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ISO |
ClinVar Annotator: match by term: Hematologic neoplasm |
ClinVar |
PMID:2406720 PMID:18971950 PMID:25157968 |
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NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Cyp2c6v1 |
cytochrome P450, family 2, subfamily C, polypeptide 6, variant 1 |
treatment |
ISO |
DNA:polymorphism: : |
RGD |
PMID:21108329 |
RGD:11352750 |
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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Etv6 |
ETS variant transcription factor 6 |
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ISO |
DNA:translocation: : ClinVar Annotator: match by term: Hematologic neoplasm CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:9694803 PMID:15806161 PMID:18305557 PMID:21680795 PMID:21714648 PMID:24904105 PMID:24997145 PMID:25581430 PMID:25741868 PMID:25807284 PMID:26102509 PMID:26522332 PMID:27895058 PMID:28492532 PMID:31248877 PMID:31704777 PMID:32693409 PMID:33226740 PMID:33768492 PMID:11319801 More...
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RGD:10450600 |
NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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Gstm1 |
glutathione S-transferase mu 1 |
susceptibility no_association |
ISO |
associated with Breast Neoplasms; |
RGD |
PMID:11792413 PMID:10383893 |
RGD:10450857, RGD:10755329 |
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 |
ISO |
associated with Breast Neoplasms; |
RGD |
PMID:11792413 |
RGD:10450857 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hspa5 |
heat shock protein family A (Hsp70) member 5 |
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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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Kit |
KIT proto-oncogene receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Hematologic neoplasm | ClinVar Annotator: match by term: Hematological neoplasm |
ClinVar |
PMID:7479840 PMID:7513208 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 PMID:9657776 PMID:9827716 PMID:9990072 PMID:10362788 PMID:11073817 PMID:11276010 PMID:11380399 PMID:11493470 PMID:11526490 PMID:15790786 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16741525 PMID:16908931 PMID:16912224 PMID:17259998 PMID:17372901 PMID:17824795 PMID:18024392 PMID:18510589 PMID:18955458 PMID:18980976 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:20147452 PMID:20545949 PMID:21642685 PMID:21689725 PMID:21690468 PMID:22504184 PMID:22626674 PMID:23582185 PMID:23648119 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26619011 PMID:26822237 PMID:27777718 PMID:28492532 PMID:29098070 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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Mefv |
MEFV innate immunity regulator, pyrin |
susceptibility |
ISO |
DNA:mutations:cds:p.M694V,E148Q,M680I(human) |
RGD |
PMID:20518828 |
RGD:11531118 |
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Mpl |
MPL proto-oncogene, thrombopoietin receptor |
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ISO |
ClinVar Annotator: match by term: Hematologic neoplasm |
ClinVar |
PMID:16834459 PMID:16868251 PMID:18769448 PMID:20113333 PMID:21326037 PMID:25023898 PMID:25741868 PMID:28492532 PMID:28823277 PMID:31294534 More...
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NCBI chr 5:131,973,897...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Mthfr |
methylenetetrahydrofolate reductase |
treatment no_association |
ISO |
DNA:SNP: :1298A>C (human) DNA:SNP: :677C>T (human) |
RGD |
PMID:21984221 PMID:21984221 |
RGD:10449413, RGD:10449413 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Muc1 |
mucin 1, cell surface associated |
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ISO |
associated with Pneumonia, Pneumocystis; protein:increased expression:serum |
RGD |
PMID:12186700 |
RGD:5131276 |
NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Pon1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:missense mutation:cds:p.Q192R (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22800774 PMID:22800774 |
RGD:11552572 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Dot1l |
DOT1 like histone lysine methyltransferase |
treatment |
ISO |
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RGD |
PMID:23801631 |
RGD:9588291 |
NCBI chr 7:8,917,786...8,959,474
Ensembl chr 7:8,917,786...8,956,475
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Rnf20 |
ring finger protein 20 |
disease_progression |
ISO |
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RGD |
PMID:23412334 |
RGD:9831405 |
NCBI chr 5:63,976,063...64,001,754
Ensembl chr 5:63,976,045...64,001,754
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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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Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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ISO |
ClinVar Annotator: match by term: Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified |
ClinVar |
PMID:7585650 PMID:8571952 PMID:9195225 PMID:9238033 PMID:15982307 PMID:22234153 PMID:23221806 PMID:23232694 PMID:24728327 PMID:25716912 PMID:25741868 PMID:26884178 PMID:27504877 PMID:28492532 PMID:29607586 More...
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NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Abcb1a |
ATP binding cassette subfamily B member 1A |
susceptibility |
ISO |
DNA:snps, haplotype:multiple (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22674224 PMID:22674224 |
RGD:8657089 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcc2 |
ATP binding cassette subfamily C member 2 |
treatment |
ISO |
DNA:SNP:5'UTR:rs717620(human) DNA:SNPs: :rs717620(human) |
RGD |
PMID:24404132 PMID:25007187 |
RGD:11080959, RGD:11080979 |
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcg2 |
ATP binding cassette subfamily G member 2 |
disease_progression |
ISO |
mRNA:increased expression:mononuclear cell: |
RGD |
PMID:15521915 PMID:12100141 |
RGD:11081076, RGD:11081143 |
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11984797 PMID:21898527 |
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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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Abo |
ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase |
susceptibility |
ISO |
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RGD |
PMID:17065136 |
RGD:11100012 |
NCBI chr 3:10,162,087...10,182,835
Ensembl chr 3:10,162,096...10,191,423
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Aicda |
activation-induced cytidine deaminase |
treatment |
ISO |
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RGD |
PMID:19759560 |
RGD:11039451 |
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Arid5b |
AT-rich interaction domain 5B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19684603 PMID:19684604 |
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NCBI chr20:20,307,731...20,490,746
Ensembl chr20:20,307,731...20,487,433
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Arnt |
aryl hydrocarbon receptor nuclear translocator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
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NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
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Bax |
BCL2 associated X, apoptosis regulator |
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ISO |
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OMIM |
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NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl2 |
BCL2, apoptosis regulator |
severity |
ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:25982455 |
RGD:11076595 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1 |
Bcl2-like 1 |
treatment |
ISO |
mRNA:increased expression:blood, mononuclear cell (human) |
RGD |
PMID:12469194 PMID:19020783 |
RGD:11353852, RGD:11353866 |
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Bcr |
BCR activator of RhoGEF and GTPase |
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ISO |
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OMIM |
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NCBI chr20:13,471,679...13,596,497
Ensembl chr20:13,471,668...13,597,016
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Casp8 |
caspase 8 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22010212 |
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NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
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Cast |
calpastatin |
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ISO |
protein:increased expresssion:B cell |
RGD |
PMID:11264179 |
RGD:5509822 |
NCBI chr 2:3,973,112...4,082,658
Ensembl chr 2:3,973,112...4,082,659
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Ccnd1 |
cyclin D1 |
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ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:22391157 |
RGD:11352824 |
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Cd40lg |
CD40 ligand |
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ISO |
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RGD |
PMID:9292526 |
RGD:11352271 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Cd46 |
CD46 molecule |
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ISO |
protein:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:16353080 |
RGD:11352810 |
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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Cd79b |
CD79b molecule |
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ISO |
protein:decreased expression:bone marrow, mononuclear cell (human) |
RGD |
PMID:21487112 |
RGD:11250414 |
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Cd86 |
CD86 molecule |
severity |
ISO |
protein:increased expression:peripheral blood, bone marrow, mononuclear cell (human) |
RGD |
PMID:24283754 |
RGD:11354967 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cdk6 |
cyclin-dependent kinase 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24736461 |
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NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
disease_progression no_association susceptibility |
ISO |
DNA:deletion: : DNA:missense mutations:cds: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20453839 PMID:10090949 PMID:9204978 PMID:25675863 PMID:26104880 |
RGD:11251764, RGD:11252081, RGD:11252082, RGD:11057958 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2a_v1 |
cyclin-dependent kinase inhibitor 2A, variant 1 |
disease_progression |
ISO |
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RGD |
PMID:25675863 |
RGD:11252082 |
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Cebpe |
CCAAT/enhancer binding protein epsilon |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19684604 |
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NCBI chr15:28,169,885...28,171,283
Ensembl chr15:28,169,704...28,171,814
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Cfb |
complement factor B |
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ISO |
DNA:missense mutation:p.R32Q b(human) |
RGD |
PMID:6958349 |
RGD:11041155 |
NCBI chr20:3,970,643...3,976,510
Ensembl chr20:3,951,474...3,976,505
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Crebbp |
CREB binding protein |
disease_progression |
ISO |
DNA:mutations:multiple |
RGD |
PMID:25917266 |
RGD:11060149 |
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Crlf2 |
cytokine receptor-like factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19838194 |
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NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642
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Csf3 |
colony stimulating factor 3 |
treatment |
ISO |
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RGD |
PMID:9250830 |
RGD:11039038 |
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Cspg4 |
chondroitin sulfate proteoglycan 4 |
severity |
ISO |
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RGD |
PMID:8562939 |
RGD:734840 |
NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
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Cyba |
cytochrome b-245 alpha chain |
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ISO |
mRNA:increased expression:peripheral blood mononuclear cell: |
RGD |
PMID:19222940 |
RGD:11040545 |
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
susceptibility no_association |
ISO |
DNA:polymorphism:3"UTR:rs4646903(human) DNA:polymorphism:cds:2452C>A(p.T461N)(human) DNA:polymorphism:3'UTR:3801T>C(human) |
RGD |
PMID:22964275 PMID:23725389 PMID:16676594 |
RGD:11352714, RGD:11352725, RGD:11352728 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Cyp1a2 |
cytochrome P450, family 1, subfamily a, polypeptide 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
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NCBI chr 8:58,075,367...58,082,255
Ensembl chr 8:58,075,367...58,082,312
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Cyp1b1 |
cytochrome P450, family 1, subfamily b, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
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NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Cyp2c79 |
cytochrome P450, family 2, subfamily c, polypeptide 79 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
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Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
susceptibility |
ISO |
DNA:polymorphisms: : DNA:SNP,deletion:splice junction,exon:1934G>A (human) |
RGD |
PMID:11037802 PMID:19593802 |
RGD:11352820, RGD:11252111 |
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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Cyp2e1 |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11774269 |
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NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Cyp3a9 |
cytochrome P450, family 3, subfamily a, polypeptide 9 |
disease_progression susceptibility |
ISO |
DNA:polymorphism: : |
RGD |
PMID:19650988 PMID:22215203 |
RGD:11353796, RGD:11353805 |
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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Dhfr |
dihydrofolate reductase |
disease_progression |
ISO |
DNA:polymorphisms, haplotype:promoter: DNA:polymorphisms: :-317A>G, 829C>T (human) |
RGD |
PMID:19861437 PMID:9226157 PMID:22969948 PMID:12972803 |
RGD:11039542, RGD:11039543, RGD:11039544, RGD:11039545 |
NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
treatment |
ISO |
DNA:mutations:exon, intron:p.R882(human) |
RGD |
PMID:25242092 |
RGD:11041125 |
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Dntt |
DNA nucleotidylexotransferase |
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ISO |
protein:increased activity:peripheral blood,bone marrow: |
RGD |
PMID:7020399 |
RGD:8694149 |
NCBI chr 1:239,856,391...239,888,283
Ensembl chr 1:239,856,391...239,888,282
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G |
Dpyd |
dihydropyrimidine dehydrogenase |
disease_progression no_association |
ISO |
DNA:SNP: :85T>C (human) DNA:splice-site mutation:intron:IVS14+1G>A (human) DNA:SNPs: :2194G>A, 1156G>T (human) |
RGD |
PMID:26846104 PMID:26846104 PMID:26846104 |
RGD:11098453, RGD:11098453, RGD:11098453 |
NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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G |
Dux4 |
double homeobox 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27776115 |
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NCBI chr16:1,558,430...1,570,045
Ensembl chr16:1,558,766...1,568,565
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G |
Ehmt1 |
euchromatic histone lysine methyltransferase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32889036 |
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NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
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G |
Ehmt2 |
euchromatic histone lysine methyltransferase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32889036 |
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NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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G |
Eng |
endoglin |
disease_progression |
ISO |
|
RGD |
PMID:17572488 |
RGD:11041565 |
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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G |
Ephx1 |
epoxide hydrolase 1 |
susceptibility no_association |
ISO |
DNA:missense mutation, haplotype:exon:p.Y113H (human) DNA:missense mutation, haplotype:exon:p.H139R (human) DNA:polymorphisms:exon DNA:SNPs:exon:rs1051740, rs2234922 (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21983886 PMID:21983886 PMID:21983886 PMID:19593802 PMID:22930568 PMID:22200898 More...
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RGD:11252110, RGD:11252110, RGD:11252111, RGD:11252113, RGD:11252114 |
NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235
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G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
susceptibility |
ISO |
DNA:SNPs: :8092C>A, 19007G>A (human) DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human) |
RGD |
PMID:16723154 PMID:16435384 |
RGD:11252160, RGD:11340204 |
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
no_association |
ISO |
DNA:missense mutations: :p.D312N, p.K751Q (human) DNA:haplotype |
RGD |
PMID:19101034 PMID:21987080 |
RGD:11252192, RGD:11340201 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Erg |
ETS transcription factor ERG |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27776115 |
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NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
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G |
Etv6 |
ETS variant transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Acute lymphoid leukemia CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:17255265 |
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NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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ISS |
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 |
MouseDO |
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NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
F3 |
coagulation factor III, tissue factor |
|
ISO |
|
RGD |
PMID:8429686 |
RGD:11340211 |
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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G |
Fas |
Fas cell surface death receptor |
disease_progression |
ISO |
protein:increased expression:CD34+ bone marrow cell |
RGD |
PMID:10500800 PMID:9711907 |
RGD:11049148, RGD:11049157 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fga |
fibrinogen alpha chain |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:25317080 |
RGD:11040558 |
NCBI chr 2:168,365,364...168,381,533
Ensembl chr 2:168,374,120...168,381,528
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G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Acute lymphoid leukemia |
ClinVar OMIM |
PMID:11290608 PMID:11442493 PMID:14604974 PMID:14670924 PMID:15256420 PMID:16857985 PMID:17606455 PMID:17889720 PMID:19657110 PMID:20733134 PMID:22368270 PMID:22504183 PMID:22504184 PMID:23261068 PMID:23321257 PMID:23430109 PMID:23714533 PMID:23783394 PMID:24046014 PMID:25157968 More...
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NCBI chr12:7,623,658...7,699,474
Ensembl chr12:7,623,930...7,699,474
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G |
Fpgs |
folylpolyglutamate synthase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25013492 |
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NCBI chr 3:15,972,800...15,993,592
Ensembl chr 3:15,972,800...15,993,563
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G |
Gata3 |
GATA binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35115686 |
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NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
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ISO |
mRNA:increased expression:blood: |
RGD |
PMID:19360458 |
RGD:11040460 |
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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G |
Gh1 |
growth hormone 1 |
treatment |
ISO |
|
RGD |
PMID:2494952 |
RGD:11352727 |
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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G |
Gnb1 |
G protein subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia |
ClinVar OMIM |
PMID:25485910 PMID:25741868 PMID:27108799 PMID:28492532 PMID:32134617 |
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NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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G |
Gpi |
glucose-6-phosphate isomerase |
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ISO |
|
RGD |
PMID:6589021 |
RGD:11051848 |
NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
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G |
Gpx1 |
glutathione peroxidase 1 |
treatment |
ISO |
|
RGD |
PMID:17317918 PMID:24698347 |
RGD:11352774, RGD:11352812 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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G |
Gsr |
glutathione-disulfide reductase |
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ISO |
|
RGD |
PMID:24191316 |
RGD:11059506 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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G |
Gstm1 |
glutathione S-transferase mu 1 |
disease_progression susceptibility no_association |
ISO |
|
RGD |
PMID:10666194 PMID:15738600 PMID:12827651 PMID:14607752 |
RGD:10450829, RGD:10755321, RGD:10755409, RGD:10755410 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstp1 |
glutathione S-transferase pi 1 |
disease_progression susceptibility no_association |
ISO |
DNA:haplotype:cds: DNA:transition mutation:exon: DNA:polymorphism: :1578 a>G(human) |
RGD |
PMID:10666194 PMID:15738600 PMID:23979883 |
RGD:10450829, RGD:10755321, RGD:10755417 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
disease_progression susceptibility |
ISO |
|
RGD |
PMID:10666194 PMID:14607752 |
RGD:10450829, RGD:10755410 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
H1f2 |
H1.2 linker histone, cluster member |
susceptibility |
ISO |
DNA:SNP, haplotype:enhancer: (rs807212) (human) |
RGD |
PMID:19806355 |
RGD:10755490 |
NCBI chr17:41,391,106...41,392,611
Ensembl chr17:41,388,477...41,392,635
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G |
Hck |
HCK proto-oncogene, Src family tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17344919 |
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NCBI chr 3:141,571,587...141,614,696
Ensembl chr 3:141,571,587...141,614,693
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G |
Hdac1 |
histone deacetylase 1 |
disease_progression |
ISO |
mRNA:increased expression:bone marrow,blood: |
RGD |
PMID:23948281 |
RGD:9681454 |
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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G |
Hdac2 |
histone deacetylase 2 |
disease_progression |
ISO |
mRNA:increased expression:bone marrow,blood: |
RGD |
PMID:23948281 |
RGD:9681454 |
NCBI chr20:40,548,250...40,571,609
Ensembl chr20:40,548,250...40,571,609
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G |
Hdac4 |
histone deacetylase 4 |
treatment |
ISO |
|
RGD |
PMID:23948281 |
RGD:9681454 |
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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G |
Hfe |
homeostatic iron regulator |
no_association |
ISO |
DNA:missense mutation:cds:p.H63D (human) DNA:missense mutation:cds:p.C282Y (human) DNA:missense mutation: :p.H63D (human) |
RGD |
PMID:10627122 PMID:10627122 PMID:17107905 |
RGD:10755557, RGD:10755557, RGD:10755558 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Hk1 |
hexokinase 1 |
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ISO |
protein:decreased activity:platelet |
RGD |
PMID:21921332 |
RGD:11353881 |
NCBI chr20:30,230,488...30,332,161
Ensembl chr20:30,230,486...30,332,131
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G |
Hlf |
HLF transcription factor, PAR bZIP family member |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214592 |
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NCBI chr10:75,154,244...75,211,884
Ensembl chr10:75,154,507...75,211,935
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G |
Hoxd4 |
homeo box D4 |
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ISO |
ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to CTD Direct Evidence: marker/mechanism |
ClinVar CTD |
PMID:15776434 |
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NCBI chr 3:59,614,464...59,634,042
Ensembl chr 3:59,614,464...59,631,528
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
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NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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G |
Ifng |
interferon gamma |
susceptibility |
ISO |
DNA:SNP: :rs2069727(human) |
RGD |
PMID:21067287 |
RGD:10755691 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Ikzf1 |
IKAROS family zinc finger 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2 DNA:SNPs: (human) |
CTD ClinVar RGD |
PMID:19684604 PMID:25741868 PMID:28492532 PMID:24786325 |
RGD:151347631 |
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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G |
Ikzf2 |
IKAROS family zinc finger 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
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NCBI chr 9:71,042,440...71,191,296
Ensembl chr 9:71,042,440...71,190,867
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G |
Ikzf3 |
IKAROS family zinc finger 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
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NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591
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G |
Il10 |
interleukin 10 |
treatment |
ISO |
protein:decreased expression:blood |
RGD |
PMID:21653647 PMID:15860861 |
RGD:11049158, RGD:11049169 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Irf4 |
interferon regulatory factor 4 |
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ISO |
DNA:SNP:intron:rs12203592 (human) |
RGD |
PMID:19897031 |
RGD:11526162 |
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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G |
Itpa |
inosine triphosphatase |
treatment no_association |
ISO |
DNA:SNPs:exon:94C>A, 138G>A (human) DNA:SNP:intron |
RGD |
PMID:22009189 PMID:22009189 |
RGD:10766474, RGD:10766474 |
NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249
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G |
Kdm2b |
lysine demethylase 2B |
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ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:21310926 |
RGD:9588255 |
NCBI chr12:33,566,530...33,701,366
Ensembl chr12:33,574,657...33,701,355
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G |
Kdm3b |
lysine demethylase 3B |
|
ISO |
protein:increased expression:bone marrow, mononuclear cell (human) |
RGD |
PMID:22615488 |
RGD:9586728 |
NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628
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G |
Kdm6a |
lysine demethylase 6A |
severity |
ISO |
DNA:mutations:cds:multiple (human) |
RGD |
PMID:22377896 |
RGD:9684944 |
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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G |
Kmt2a |
lysine methyltransferase 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24736461 PMID:25730765 |
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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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G |
Kras |
KRAS proto-oncogene, GTPase |
disease_progression |
ISO |
|
RGD |
PMID:17910045 PMID:25917266 |
RGD:11060148, RGD:11060149 |
NCBI chr 4:178,185,418...178,218,484
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G |
Lmo2 |
LIM domain only 2 |
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ISS |
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 |
MouseDO |
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NCBI chr 3:90,355,234...90,377,970
Ensembl chr 3:90,365,883...90,377,953
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G |
Mefv |
MEFV innate immunity regulator, pyrin |
susceptibility |
ISO |
DNA:polymorphisms:cds:p.E148Q,M680I(human) |
RGD |
PMID:22942567 |
RGD:11531121 |
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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G |
Mthfr |
methylenetetrahydrofolate reductase |
disease_progression treatment |
ISO |
DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:677C>T (human) |
CTD RGD |
PMID:16706930 PMID:19923983 PMID:21644011 |
RGD:10449398, RGD:10449407 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
disease_progression no_association susceptibility |
ISO |
DNA:SNP::rs10925235(human) DNA:polymorphism: :2756A>G(human) DNA:polymorphism: :66A>G(human) |
RGD |
PMID:26605150 PMID:22453148 PMID:15159311 PMID:21618417 |
RGD:11531136, RGD:11531137, RGD:11531140, RGD:11531141 |
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
susceptibility |
ISO |
DNA:haplotype:cds: CTD Direct Evidence: marker/mechanism DNA:SNP: :rs3776455(human) |
CTD RGD |
PMID:17136115 PMID:17136115 PMID:23940529 |
RGD:11531133, RGD:11531135 |
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
disease_progression |
ISO |
|
RGD |
PMID:25784651 |
RGD:11532748 |
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Nat2 |
N-acetyltransferase 2 |
susceptibility no_association |
ISO |
DNA:polymorphisms: : DNA:polymorphisms,haplotype: : CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22200898 PMID:25804798 PMID:21888617 PMID:22215203 |
RGD:11532767, RGD:11532769, RGD:11353805 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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G |
Nbn |
nibrin |
|
ISO |
ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to |
ClinVar OMIM |
PMID:9590180 PMID:11325820 PMID:14559852 PMID:15338273 PMID:16415040 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:24549055 PMID:24728327 PMID:24830725 PMID:25619955 PMID:25712764 PMID:25741868 PMID:26083025 PMID:26315354 PMID:26467025 PMID:26722329 PMID:27153395 PMID:27616075 PMID:27621404 PMID:28076423 PMID:28261280 PMID:28376765 PMID:28492532 PMID:28591191 PMID:29335925 PMID:29678143 PMID:29785153 PMID:30287823 PMID:30441849 PMID:30590007 PMID:30651582 PMID:31159747 PMID:32566746 PMID:34072463 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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G |
Nos3 |
nitric oxide synthase 3 |
susceptibility disease_progression |
ISO |
DNA:SNP: :rs3918186(human) DNA:polymorphism, haplotype:cds,intron:P.E298D,-786T>C(human) |
RGD |
PMID:23922896 PMID:20510681 |
RGD:11533639, RGD:11533646 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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G |
Notch3 |
notch receptor 3 |
|
ISS |
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 |
MouseDO |
|
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NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
|
ISO |
DNA:mutation: :609C>T (human) DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:11774269 PMID:17332311 PMID:18444911 PMID:11774269 |
RGD:10769347, RGD:10769359 |
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 |
disease_progression |
ISO |
DNA:missense mutation:cds: |
RGD |
PMID:25204082 |
RGD:11535045 |
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Nsd2 |
nuclear receptor binding SET domain protein 2 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:24076604 |
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NCBI chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641
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G |
Nt5c2 |
5'-nucleotidase, cytosolic II |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23377183 |
|
NCBI chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
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G |
Nup214 |
nucleoporin 214 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
|
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NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
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G |
Pag1 |
phosphoprotein membrane anchor with glycosphingolipid microdomains 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
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NCBI chr 2:91,935,378...92,076,937
Ensembl chr 2:92,057,216...92,069,849
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G |
Pax5 |
paired box 5 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to, 3 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:24013638 PMID:24728327 PMID:25741868 PMID:26214592 PMID:28492532 PMID:30643249 PMID:35094443 More...
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NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
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G |
Pon1 |
paraoxonase 1 |
susceptibility |
ISO |
DNA:missense mutations:cds:p.L55M (rs854560), p.Q192R (rs662) (human) |
RGD |
PMID:22976839 |
RGD:11552580 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Pramex1 |
PRAME like, X-linked 1 |
severity |
ISO |
mRNA:increased expression:blood (human) |
RGD |
PMID:27275197 |
RGD:11535025 |
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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G |
Prdm14 |
PR/SET domain 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19043588 |
|
NCBI chr 5:6,082,163...6,092,712
Ensembl chr 5:6,082,442...6,092,712
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G |
Pten |
phosphatase and tensin homolog |
|
ISS |
OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545 |
MouseDO |
|
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NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
|
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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G |
RT1-Ba |
RT1 class II, locus Ba |
|
ISO |
DNA:polymorphisms, haplotype:cds:HLA-DQA1*01 (human) |
RGD |
PMID:9744491 |
RGD:11041762 |
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:polymorphisms, haplotypes:cds:multiple DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human) |
RGD |
PMID:22434102 PMID:9744491 |
RGD:11041749, RGD:11041762 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
Runx1 |
RUNX family transcription factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17255265 |
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NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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G |
Slc19a1 |
solute carrier family 19 member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17255265 |
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NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
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G |
Snrpe |
small nuclear ribonucleoprotein polypeptide E |
severity |
ISO |
mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) |
RGD |
PMID:23915977 |
RGD:10768836 |
NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310
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G |
Tal1 |
TAL bHLH transcription factor 1, erythroid differentiation factor |
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ISO |
|
OMIM |
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NCBI chr 5:128,586,776...128,600,976
Ensembl chr 5:128,587,701...128,600,976
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G |
Tal2 |
TAL bHLH transcription factor 2 |
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ISO |
|
OMIM |
|
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NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569
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G |
Tcf3 |
transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214592 |
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NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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G |
Tcn2 |
transcobalamin 2 |
|
ISO |
protein:altered activity:plasma: |
RGD |
PMID:8754152 |
RGD:11059889 |
NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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G |
Tert |
telomerase reverse transcriptase |
|
ISO |
DNA:SNPs:promoter, introns:g.1296486C>T, g.12866516A>C, g.1279790G>A (rs2735940, rs2736100, rs10069690) (human) |
RGD |
PMID:23066086 PMID:15621763 |
RGD:11038654, RGD:11038667 |
NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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G |
Tm9sf2 |
transmembrane 9 superfamily member 2 |
|
ISO |
mRNA:increased expression:bone marrow, mononuclear cells (human) |
RGD |
PMID:12730115 |
RGD:2317244 |
NCBI chr15:99,201,556...99,254,054
Ensembl chr15:99,201,489...99,254,049
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G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
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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 |
Tpmt |
thiopurine S-methyltransferase |
treatment no_association |
ISO |
DNA:SNPs:multiple DNA:SNPs:introns:12356C>T, 16638C>T, 26354G>T (rs4449636, rs2518463, rs2842949) (human) DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human) DNA:SNPs: :multiple |
RGD |
PMID:17164697 PMID:22009189 PMID:22009189 PMID:24499706 |
RGD:11038720, RGD:10766474, RGD:10766474, RGD:11038723 |
NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709
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G |
Tyms |
thymidylate synthetase |
treatment |
ISO |
DNA:repeats: : rs347430033(human) |
RGD |
PMID:25007187 |
RGD:11080979 |
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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G |
Uty |
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked |
severity |
ISO |
DNA:mutations:cds:multiple (human) |
RGD |
PMID:22377896 |
RGD:9684944 |
NCBI chr Y:942,838...1,105,313
Ensembl chr Y:924,168...1,103,422
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G |
Vpreb1a |
V-set pre-B cell surrogate light chain 1A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214592 |
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NCBI chr11:84,126,969...84,127,846
Ensembl chr11:84,126,969...84,127,846
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility no_association |
ISO |
DNA:missense mutation, haplotype: :p.R399Q (human) DNA:missense mutation: :p.R194W (human) DNA:missense mutation: :p.R399Q (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21983886 PMID:21983886 PMID:19101034 PMID:19101034 |
RGD:11252110, RGD:11252192, RGD:11252192 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:10988075 PMID:11423618 PMID:11853795 PMID:11861307 PMID:11964322 PMID:12130516 PMID:12399961 PMID:12623848 PMID:14559829 PMID:14745431 PMID:15194504 PMID:15256422 PMID:15381060 PMID:18615627 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:22306673 PMID:22772060 PMID:22870928 PMID:23355941 PMID:23540562 PMID:23676790 PMID:24236021 PMID:24456693 PMID:25157968 PMID:25686603 PMID:25741868 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 |
Crlf2 |
cytokine receptor-like factor 2 |
|
ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:19907440 PMID:19965641 PMID:20018760 PMID:22368272 |
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NCBI chr14:103,943...108,643
Ensembl chr14:103,939...108,642
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G |
Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
susceptibility |
ISO |
DNA:polymorphism:G15631T |
RGD |
PMID:19144407 |
RGD:6480472 |
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156 |
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NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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G |
Il7r |
interleukin 7 receptor |
|
ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:22897847 PMID:22955920 |
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NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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G |
Insl6 |
insulin-like 6 |
|
ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920 |
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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 |
Jak1 |
Janus kinase 1 |
|
ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:20167706 PMID:21436584 PMID:21680795 PMID:22955920 PMID:25356970 PMID:28111307 More...
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NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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G |
Jak2 |
Janus kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:18805579 PMID:19470474 PMID:20585391 PMID:22368270 PMID:22955920 |
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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 |
Jak3 |
Janus kinase 3 |
|
ISO |
ClinVar Annotator: match by term: LYMPHOMATOUS ALL |
ClinVar |
PMID:10982185 PMID:16843266 PMID:18270328 PMID:20132407 PMID:20372971 PMID:21599579 PMID:21821710 PMID:24728327 PMID:25157968 PMID:25741868 PMID:28492532 More...
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NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
|
ISO |
|
RGD |
PMID:21640380 |
RGD:11081147 |
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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G |
Birc5 |
baculoviral IAP repeat-containing 5 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16166298 |
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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 |
Coro7 |
coronin 7 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
|
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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 |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
|
ISO |
associated with Down Syndrome;DNA:mutations:multiple (human) |
RGD |
PMID:24056718 |
RGD:10450890 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
Gata1 |
GATA binding protein 1 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
PMID:15070711 PMID:16783379 PMID:22706301 PMID:23704091 PMID:24453067 PMID:28492532 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 |
Gfi1b |
growth factor independent 1B transcriptional repressor |
|
ISO |
mRNA:increased expression:bone marrow cell: |
RGD |
PMID:17156408 |
RGD:11040507 |
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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G |
Jak3 |
Janus kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia | ClinVar Annotator: match by term: Acute megakaryocytic leukemia |
ClinVar RGD |
PMID:10982185 PMID:16843266 PMID:18270328 PMID:18397343 PMID:20132407 PMID:20372971 PMID:20385788 PMID:20400977 PMID:21599579 PMID:21821710 PMID:22271575 PMID:24728327 PMID:25157968 PMID:25741868 PMID:28492532 PMID:16843266 More...
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RGD:11531113 |
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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G |
Mdga1 |
MAM domain containing glycosylphosphatidylinositol anchor 1 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
|
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NCBI chr20:7,900,327...7,963,471
Ensembl chr20:7,904,358...7,963,471
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G |
Mrtfa |
myocardin related transcription factor A |
|
ISO |
|
RGD |
PMID:11431691 |
RGD:1599948 |
NCBI chr 7:112,544,312...112,714,431
Ensembl chr 7:112,544,312...112,714,418
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G |
Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
|
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NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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G |
Pcf11 |
PCF11 cleavage and polyadenylation factor subunit |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
|
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NCBI chr 1:146,694,045...146,724,030
Ensembl chr 1:146,697,646...146,724,124
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G |
Pramex1 |
PRAME like, X-linked 1 |
|
ISO |
associated with Down Syndrome;mRNA:increased expression:mononuclear cell (human) |
RGD |
PMID:15180862 |
RGD:11535064 |
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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G |
Pten |
phosphatase and tensin homolog |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryocytic leukemia |
ClinVar |
PMID:10848731 PMID:17941496 PMID:20600018 PMID:21194675 PMID:21343951 PMID:21659347 PMID:22281088 PMID:22520842 PMID:23335809 PMID:23475934 PMID:23886400 PMID:24778394 PMID:25741868 PMID:26376867 PMID:28492532 PMID:29663862 PMID:35227301 More...
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NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
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G |
Rasal3 |
RAS protein activator like 3 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
|
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NCBI chr 7:11,396,090...11,411,349
Ensembl chr 7:11,396,090...11,411,465
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G |
Runx1 |
RUNX family transcription factor 1 |
onset |
ISO |
|
RGD |
PMID:15856017 |
RGD:11251701 |
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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G |
Slc9a2 |
solute carrier family 9 member A2 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
|
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NCBI chr 9:42,932,001...43,014,447
Ensembl chr 9:42,931,346...43,014,444
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G |
Sncb |
synuclein, beta |
|
ISO |
|
RGD |
PMID:21264917 |
RGD:6478703 |
NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
PMID:11370630 PMID:20522432 PMID:28492532 |
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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 |
Dnmt3a |
DNA methyltransferase 3 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399634 |
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NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Kmt2a |
lysine methyltransferase 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8282816 |
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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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G |
Mllt10 |
MLLT10, histone lysine methyltransferase DOT1L cofactor |
|
ISO |
|
RGD |
PMID:7662954 |
RGD:1598771 |
NCBI chr17:80,821,870...80,949,349
Ensembl chr17:80,822,556...80,949,345
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G |
Nf1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Acute monocytic leukemia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:29290338 PMID:33471991 |
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Abcc3 |
ATP binding cassette subfamily C member 3 |
disease_progression |
ISO |
|
RGD |
PMID:26512967 |
RGD:11081145 |
NCBI chr10:79,296,681...79,342,749
Ensembl chr10:79,296,693...79,342,595
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G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
disease_progression treatment |
ISO |
|
RGD |
PMID:26512967 PMID:12145683 |
RGD:11081145, RGD:11099971 |
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 |
|
ISO |
DNA:translocation: : |
RGD |
PMID:12161353 |
RGD:10450603 |
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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G |
Acsl6 |
acyl-CoA synthetase long-chain family member 6 |
|
ISO |
DNA:translocation: :t(5;12)(q31;p13) (human) |
RGD |
PMID:10502316 |
RGD:1599805 |
NCBI chr10:38,439,914...38,501,182
Ensembl chr10:38,440,080...38,498,757
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G |
Adcy7 |
adenylate cyclase 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr19:18,740,875...18,798,924
Ensembl chr19:18,740,875...18,776,311
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G |
Agrn |
agrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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G |
Anapc2 |
anaphase promoting complex subunit 2 |
|
ISO |
mRNA:increased expression:blood (human) |
RGD |
PMID:26046517 |
RGD:11067888 |
NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
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G |
Anxa2 |
annexin A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 8:70,105,268...70,141,663
Ensembl chr 8:70,105,253...70,141,658
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G |
Anxa4 |
annexin A4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 4:119,184,378...119,241,183
Ensembl chr 4:119,184,374...119,241,161
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G |
Anxa5 |
annexin A5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 2:119,314,007...119,344,703
Ensembl chr 2:119,314,007...119,353,369
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G |
Anxa6 |
annexin A6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr10:39,101,395...39,156,483
Ensembl chr10:39,097,109...39,156,433
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G |
Aqp9 |
aquaporin 9 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16968895 |
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NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
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G |
Arid4a |
AT-rich interaction domain 4A |
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ISS |
OMIM:601626 |
MouseDO |
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NCBI chr 6:89,522,463...89,593,868
Ensembl chr 6:89,522,442...89,593,510
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G |
Asmtl |
acetylserotonin O-methyltransferase-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr12:16,315,335...16,321,607
Ensembl chr12:16,315,414...16,318,080
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G |
Asxl1 |
ASXL transcriptional regulator 1 |
disease_progression |
ISO ISS |
DNA:mutations:exon: OMIM:601626 |
MouseDO RGD |
PMID:20693432 |
RGD:11038706 |
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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G |
Asxl2 |
ASXL transcriptional regulator 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27798625 |
|
NCBI chr 6:26,425,017...26,514,899
Ensembl chr 6:26,425,954...26,507,477
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G |
Atg2b |
autophagy related 2B |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
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 |
Atp1b1 |
ATPase Na+/K+ transporting subunit beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459
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G |
Baalc |
BAALC binder of MAP3K1 and KLF4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19822134 |
|
NCBI chr 7:69,918,998...69,992,289
Ensembl chr 7:69,918,998...69,992,288
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G |
Bach2 |
BTB domain and CNC homolog 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21441929 |
|
NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
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G |
Bcl2 |
BCL2, apoptosis regulator |
susceptibility severity |
ISO |
DNA:snp:promoter:g.-938C>A (human) CTD Direct Evidence: marker/mechanism DNA:snp:exon:c.+21A>G (rs1801018) (human) ratio with Flt3, Kit;mRNA:decreased expression:mononuclear cell (human) |
CTD RGD |
PMID:23906301 PMID:25957891 PMID:19520430 PMID:25216797 |
RGD:11526107, RGD:11526111, RGD:11526109 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bcl2l1 |
Bcl2-like 1 |
severity |
ISO |
mRNA:increased expression:peripheral blood, bone marrow, blast cell (human) |
RGD |
PMID:11410409 |
RGD:11353851 |
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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G |
Bcor |
BCL6 co-repressor |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
|
|
NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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G |
Bdkrb1 |
bradykinin receptor B1 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
|
|
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 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
|
|
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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G |
Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
|
ISO |
|
RGD |
PMID:16105758 |
RGD:1580059 |
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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G |
Brd4 |
bromodomain containing 4 |
|
ISO |
|
RGD |
PMID:21814200 |
RGD:9586350 |
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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G |
Brd7 |
bromodomain containing 7 |
susceptibility |
ISO |
mRNA:increased expression:bone marrow: DNA:haplotype:cds:737A>G,495C>T(human) |
RGD |
PMID:18772500 PMID:18772500 |
RGD:9586443, RGD:9586443 |
NCBI chr19:18,708,792...18,737,500
Ensembl chr19:18,709,022...18,737,494
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G |
Btg1 |
BTG anti-proliferation factor 1 |
disease_progression |
ISO |
|
RGD |
PMID:15449376 |
RGD:1549463 |
NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649
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G |
Calr |
calreticulin |
|
ISO |
mRNA:increased expression:peripheral blood (human) |
RGD |
PMID:26640226 |
RGD:11076986 |
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G |
Capg |
capping actin protein, gelsolin like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr 4:104,594,743...104,611,856
Ensembl chr 4:104,594,753...104,611,856
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G |
Capn2 |
calpain 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr13:94,150,244...94,200,969
Ensembl chr13:94,150,240...94,200,969
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G |
Casp7 |
caspase 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr 1:255,437,195...255,476,737
Ensembl chr 1:255,437,172...255,476,729
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G |
Cbfb |
core-binding factor subunit beta |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute myeloid leukemia |
CTD ClinVar |
PMID:18206229 PMID:25741868 PMID:27798625 PMID:36241386 |
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NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751
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G |
Cbl |
Cbl proto-oncogene |
disease_progression |
ISO |
associated with Myelodysplastic Syndromes;DNA:mutations:exons: |
RGD |
PMID:22131879 |
RGD:11038796 |
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:25382729 PMID:17822317 |
RGD:11528532, RGD:11528537 |
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccna1 |
cyclin A1 |
|
ISO |
protein:increased expression:leukocyte (human) |
RGD |
PMID:10068680 |
RGD:2316304 |
NCBI chr 2:139,231,738...139,278,066
Ensembl chr 2:139,201,074...139,243,157
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G |
Ccnd1 |
cyclin D1 |
treatment |
ISO |
mRNA:increased expression:bone marrow (human) human tumor in a mouse model |
RGD |
PMID:22391157 PMID:21928377 |
RGD:11352824, RGD:11353789 |
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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G |
Ccnd2 |
cyclin D2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27798625 |
|
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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G |
Cd33 |
CD33 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12921496 |
|
NCBI chr 1:93,935,418...93,940,452
Ensembl chr 1:93,930,971...93,950,149
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G |
Cd44 |
CD44 molecule (Indian blood group) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23098472 |
|
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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G |
Cd86 |
CD86 molecule |
severity |
ISO |
protein:increased expression:mononuclear cell of bone marrow (human) |
RGD |
PMID:19197726 PMID:16115907 |
RGD:4892295, RGD:11354960 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Cd9 |
CD9 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222
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G |
Cdh1 |
cadherin 1 |
disease_progression |
ISO |
DNA:hypermethylation:promoter: |
RGD |
PMID:15863205 |
RGD:11252161 |
NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775
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G |
Cdk6 |
cyclin-dependent kinase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
|
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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|
G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
|
ISO |
DNA:deletion: : |
RGD |
PMID:9171997 |
RGD:10450601 |
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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|
G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
disease_progression |
ISO |
DNA:deletion: : mRNA,protein:altered expression:bone marrow: |
RGD |
PMID:11064355 PMID:11697625 |
RGD:11251749, RGD:11252080 |
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 |
|
ISO |
mRNA,protein:altered expression:bone marrow: |
RGD |
PMID:11697625 |
RGD:11252080 |
|
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G |
Cdkn2a_v2 |
cyclin-dependent kinase inhibitor 2A, variant 2 |
|
ISO |
mRNA,protein:altered expression:bone marrow: |
RGD |
PMID:11697625 |
RGD:11252080 |
|
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
susceptibility treatment disease_progression |
ISO |
DNA:hypermethylation: : mRNA:decreased expression:granulocyte,monocyte: DNA:hypermethylation:promoter: DNA:deletion: : |
RGD |
PMID:25616284 PMID:9001419 PMID:14681685 PMID:27168825 PMID:15863205 PMID:11064355 More...
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RGD:11251739, RGD:11252196, RGD:11252167, RGD:11252164, RGD:11252161, RGD:11251749 |
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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G |
Cebpa |
CCAAT/enhancer binding protein alpha |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:11242107 PMID:12661007 PMID:12692518 PMID:14726504 PMID:15575056 PMID:15902292 PMID:18768433 PMID:18946494 PMID:18987666 PMID:19731081 PMID:19822134 PMID:19953636 PMID:21177436 PMID:23716546 PMID:23926458 PMID:24220272 PMID:24728327 PMID:25741868 PMID:26162409 PMID:26721895 PMID:27005833 PMID:27993330 PMID:28250006 PMID:28492532 PMID:29296967 PMID:30420649 PMID:31867767 PMID:32430494 PMID:33179473 PMID:33345654 More...
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NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
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G |
Cebpd |
CCAAT/enhancer binding protein delta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17234736 |
|
NCBI chr11:84,764,670...84,765,808
Ensembl chr11:84,764,565...84,765,829
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G |
Cfhr1 |
complement factor H-related 1 |
susceptibility |
ISO |
DNA:deletion: : |
RGD |
PMID:26317246 |
RGD:11341662 |
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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|
G |
Cflar |
CASP8 and FADD-like apoptosis regulator |
disease_progression |
ISO |
|
RGD |
PMID:23167276 |
RGD:11341679 |
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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G |
Chi3l1 |
chitinase 3 like 1 |
severity |
ISO |
protein:increased secretion:serum (human) |
RGD |
PMID:16361549 |
RGD:4892644 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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G |
Chic2 |
cysteine-rich hydrophobic domain 2 |
|
ISO |
|
OMIM |
|
|
NCBI chr14:33,157,669...33,192,015
Ensembl chr14:33,157,537...33,191,895
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G |
Chmp5 |
charged multivesicular body protein 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17708794 |
|
NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529
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G |
Cnr2 |
cannabinoid receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15039279 |
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NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
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G |
Crebbp |
CREB binding protein |
|
ISO ISS |
DNA:translocations:intron:IVS2 (human) OMIM:601626 |
MouseDO RGD |
PMID:12461753 |
RGD:734819 |
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Csf1r |
colony stimulating factor 1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1390197 |
|
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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G |
Csf2 |
colony stimulating factor 2 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21441929 PMID:1826536 |
RGD:10449528 |
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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G |
Csf3 |
colony stimulating factor 3 |
treatment |
ISO |
CTD Direct Evidence: therapeutic |
CTD RGD |
PMID:7528855 PMID:10673519 |
RGD:11039033 |
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Csf3r |
colony stimulating factor 3 receptor |
disease_progression susceptibility |
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia associated with Severe Congenital Neutropenia;DNA:nonsense mutation:cds: |
ClinVar RGD |
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 PMID:24746896 PMID:9001427 PMID:21911095 More...
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RGD:10450468, RGD:10450487, RGD:10450470 |
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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G |
Cst3 |
cystatin C |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
DNA:SNP:3'UTR:rs3087243(human) |
RGD |
PMID:19092854 |
RGD:11344911 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Ctnna1 |
catenin alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
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G |
Ctsh |
cathepsin H |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
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G |
Ctsz |
cathepsin Z |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 3:163,224,875...163,235,645
Ensembl chr 3:163,224,875...163,235,645
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G |
Cxcr4 |
C-X-C motif chemokine receptor 4 |
treatment disease_progression |
ISO |
|
RGD |
PMID:26031918 PMID:24035716 |
RGD:11352265, RGD:11352273 |
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
disease_progression no_association |
ISO |
DNA:SNP: :6235T>C (human) DNA:polymorphism: :6235T>C (human) DNA:SNP: :4889A>G (human) |
RGD |
PMID:19456854 PMID:15996939 PMID:19456854 |
RGD:10769358, RGD:11352736, RGD:10769358 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp2b3 |
cytochrome P450, family 2, subfamily b, polypeptide 3 |
susceptibility |
ISO |
DNA:polymorphism:G15631T |
RGD |
PMID:19144407 |
RGD:6480472 |
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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G |
Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
susceptibility treatment |
ISO |
DNA:polymorphisms: : DNA:SNP: :(rs16947)(human) |
RGD |
PMID:11037802 PMID:21518482 |
RGD:11352820, RGD:11352828 |
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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G |
Dapk1 |
death associated protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19874806 |
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NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
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G |
Ddx41 |
DEAD-box helicase 41 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult |
ClinVar |
PMID:25741868 PMID:25920683 PMID:26712909 PMID:27133828 PMID:28492532 PMID:28547672 PMID:30963592 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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G |
Dhx15 |
DEAH-box helicase 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27798625 PMID:29163777 |
|
NCBI chr14:58,787,147...58,825,083
Ensembl chr14:58,787,127...58,825,088
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G |
Dlec1 |
DLEC1 cilia and flagella associated protein |
treatment |
ISO |
DNA:hypermethylation:promoter: |
RGD |
PMID:27168825 |
RGD:11252164 |
NCBI chr 8:118,826,429...118,873,183
Ensembl chr 8:118,826,466...118,873,655
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G |
Dnmt1 |
DNA methyltransferase 1 |
|
ISO |
mRNA:increased expression:CD34+ bone marrow cells |
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 susceptibility treatment |
ISO |
mRNA:increased expression:CD34+ bone marrow cells ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.R882 (human) associated with Myelodysplastic Syndromes; DNA:mutations:cds: DNA:hypomethylation: : DNA:mutation:: |
ClinVar CTD OMIM RGD |
PMID:21067377 PMID:21518476 PMID:22160010 PMID:22722925 PMID:22744846 PMID:22898539 PMID:22898540 PMID:22898541 PMID:24606448 PMID:24622842 PMID:24656771 PMID:25741868 PMID:26619011 PMID:26822784 PMID:26876596 PMID:27317772 PMID:27335278 PMID:27991732 PMID:28166811 PMID:28432085 PMID:28492532 PMID:28941052 PMID:29900417 PMID:30185810 PMID:30478443 PMID:31582562 PMID:31620784 PMID:31640986 PMID:31961069 PMID:32123902 PMID:32385248 PMID:32581362 PMID:34788385 PMID:11222358 PMID:24512939 PMID:21415852 PMID:26242829 PMID:25609058 PMID:22291079 More...
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RGD:9588667, RGD:11041123, RGD:11041122, RGD:11041121, RGD:11041120, RGD:9589067 |
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 |
susceptibility disease_progression |
ISO |
mRNA:increased expression:CD34+ bone marrow cells DNA:SNP:promoter: C>T46359(human) DNA:SNPs,haplotype: :rs1569686,rs2424908, rs6087990, rs6119954(human) |
RGD |
PMID:11222358 PMID:16194411 PMID:24069326 PMID:23251566 |
RGD:9588667, RGD:9589108, RGD:9589103, RGD:9589071 |
NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
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G |
Ehd3 |
EH-domain containing 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 6:21,640,861...21,665,601
Ensembl chr 6:21,639,290...21,665,236
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G |
Ehmt2 |
euchromatic histone lysine methyltransferase 2 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:24532712 PMID:24532712 |
RGD:9589168 |
NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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G |
Eif4ebp1 |
eukaryotic translation initiation factor 4E binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19458359 |
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NCBI chr16:64,792,595...64,805,984
Ensembl chr16:64,790,226...64,805,984
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G |
Enah |
ENAH, actin regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26237430 |
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NCBI chr13:93,617,751...93,738,119
Ensembl chr13:93,626,944...93,740,955
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G |
Eno2 |
enolase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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G |
Ephx1 |
epoxide hydrolase 1 |
no_association |
ISO |
DNA:SNPs:exon:rs1051740, rs2234922 (human) CTD Direct Evidence: marker/mechanism DNA:missense mutations:exon:p.Y113H, p.H139R (human) DNA:polymorphism |
CTD RGD |
PMID:29605894 PMID:22200898 PMID:11849215 PMID:20731606 |
RGD:11252114, RGD:11252119, RGD:11252115 |
NCBI chr13:92,714,315...92,744,124
Ensembl chr13:92,714,315...92,790,235
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G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
treatment no_association |
ISO |
DNA:polymorphism: :p.R399Q (human) DNA:SNP: :p.Q504K (human) |
RGD |
PMID:18604718 PMID:23397959 PMID:16507781 PMID:20141440 PMID:21942242 |
RGD:11252170, RGD:11252193, RGD:11252179, RGD:11252173, RGD:11252171 |
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
disease_progression no_association |
ISO |
DNA:polymorphism: :p.K751Q (rs13181) (human) DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human) associated with Myeloproliferative Disorders;DNA:polymorphism: :p.K751Q (rs13181) (human) |
RGD |
PMID:20141440 PMID:21394217 PMID:22496165 PMID:23397959 |
RGD:11252173, RGD:11252209, RGD:11252198, RGD:11252193 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Erg |
ETS transcription factor ERG |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19822134 |
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NCBI chr11:34,678,614...34,900,951
Ensembl chr11:34,678,618...34,845,871
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G |
Etv6 |
ETS variant transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia DNA:translocation: : DNA:deletion: : DNA:translocation: :t(5;12)(q31;p13) (human) |
OMIM ClinVar RGD |
PMID:15806161 PMID:25581430 PMID:25741868 PMID:25807284 PMID:28492532 PMID:31248877 PMID:31704777 PMID:33226740 PMID:33768492 PMID:12161353 PMID:9171997 PMID:10502316 More...
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RGD:10450603, RGD:10450601, RGD:1599805 |
NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
disease_progression susceptibility |
ISO |
mRNA:increased expression:bone marrow, mononuclear cell (human) DNA:mutations:cds:multiple (human) |
RGD |
PMID:22677129 PMID:21125401 PMID:23099237 |
RGD:10450874, RGD:10450887, RGD:10450876 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
F3 |
coagulation factor III, tissue factor |
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ISO |
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RGD |
PMID:2617479 |
RGD:11340207 |
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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G |
Fadd |
Fas associated via death domain |
disease_progression |
ISO |
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RGD |
PMID:15520222 |
RGD:11341799 |
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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G |
Fanca |
FA complementation group A |
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ISO |
DNA, mRNA:deletions, decreased expression: :multiple |
RGD |
PMID:14749703 |
RGD:11344889 |
NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527
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G |
Fancc |
FA complementation group C |
susceptibility |
ISO |
DNA:polymorphism:cds:p.S26F (human) |
RGD |
PMID:12670332 |
RGD:11046259 |
NCBI chr17:1,680,660...1,822,610
Ensembl chr17:1,681,324...1,829,376
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G |
Fas |
Fas cell surface death receptor |
susceptibility |
ISO |
DNA:polymorphism, haplotype:promoter:-1377 G>A, -670 G>A (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:7579353 PMID:12907599 PMID:8870373 |
RGD:11049150, RGD:11049452 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Fermt2 |
FERM domain containing kindlin 2 |
disease_progression |
ISO |
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RGD |
PMID:22391155 |
RGD:11352307 |
NCBI chr15:18,682,927...18,751,959
Ensembl chr15:18,682,927...18,751,811
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G |
Fermt3 |
FERM domain containing kindlin 3 |
disease_progression |
ISO |
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RGD |
PMID:22391155 |
RGD:11352307 |
NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
treatment |
ISO |
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RGD |
PMID:27005999 PMID:23777766 PMID:22683780 |
RGD:11352310, RGD:11352670, RGD:11352665 |
NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350
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G |
Fhl2 |
four and a half LIM domains 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 9:45,388,979...45,462,530
Ensembl chr 9:45,388,981...45,431,192
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G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
treatment disease_progression |
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, reduced survival in, somatic CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.D835Y,D835H(human) DNA:mutations:cds: DNA:duplication mutation:cds: mRNA,protein:increased expression:bone marrow: |
ClinVar CTD OMIM RGD |
PMID:11091200 PMID:11290608 PMID:11442493 PMID:12384447 PMID:14604974 PMID:14670924 PMID:14737077 PMID:15256420 PMID:15374878 PMID:15625552 PMID:15667533 PMID:15863200 PMID:16091740 PMID:16371029 PMID:16410449 PMID:16573742 PMID:16857985 PMID:16990784 PMID:17047150 PMID:17050201 PMID:17184839 PMID:17387224 PMID:17606455 PMID:17889720 PMID:17942876 PMID:19602710 PMID:19657110 PMID:19822134 PMID:19840437 PMID:20733134 PMID:21441929 PMID:21482694 PMID:21928377 PMID:22368270 PMID:22409268 PMID:22504183 PMID:22504184 PMID:22504185 PMID:22504186 PMID:23036488 PMID:23261068 PMID:23321257 PMID:23430109 PMID:23714533 PMID:23783394 PMID:23878140 PMID:23906301 PMID:24046014 PMID:24526162 PMID:24619500 PMID:25053825 PMID:25157968 PMID:27099147 PMID:27992414 PMID:11290608 PMID:11442493 PMID:23969938 PMID:24184354 PMID:16642044 PMID:8562934 More...
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RGD:1598955, RGD:11049497, RGD:11049482, RGD:11049471, RGD:11049467, RGD:11049466 |
NCBI chr12:7,623,658...7,699,474
Ensembl chr12:7,623,930...7,699,474
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G |
Foxo1 |
forkhead box O1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
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G |
Fxyd6 |
FXYD domain-containing ion transport regulator 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958
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G |
Gas2l1 |
growth arrest-specific 2 like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr14:79,951,702...79,961,830
Ensembl chr14:79,950,555...79,961,438
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G |
Gata1 |
GATA binding protein 1 |
disease_progression |
ISO |
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RGD |
PMID:7579412 |
RGD:10450754 |
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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G |
Gata2 |
GATA binding protein 2 |
disease_progression |
ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to CTD Direct Evidence: marker/mechanism mRNA:decreased expression:CD34+ bone marrow cell: |
ClinVar OMIM CTD RGD |
PMID:4508672 PMID:8701948 PMID:20040766 PMID:21242295 PMID:21670465 PMID:21765025 PMID:21810969 PMID:21892158 PMID:21892162 PMID:22147895 PMID:22271902 PMID:22533337 PMID:23223431 PMID:23365458 PMID:23502222 PMID:24077845 PMID:24227816 PMID:24266605 PMID:24345756 PMID:24728327 PMID:25239263 PMID:25359990 PMID:25676417 PMID:25741868 PMID:25879889 PMID:26264606 PMID:26492932 PMID:26702063 PMID:26748574 PMID:26812071 PMID:27266944 PMID:27288520 PMID:27418648 PMID:27577878 PMID:28104920 PMID:28440875 PMID:28492532 PMID:28747912 PMID:28947108 PMID:29146883 PMID:29365323 PMID:29588856 PMID:29724903 PMID:29882021 PMID:30578959 PMID:30894283 PMID:31035956 PMID:31106410 PMID:31256854 PMID:31340620 PMID:31350183 PMID:32098966 PMID:32135276 PMID:33363905 PMID:33417088 PMID:33510405 PMID:25241285 PMID:22786876 PMID:24514424 More...
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RGD:11049510, RGD:11049515, RGD:11049514 |
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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G |
Gfi1 |
growth factor independent 1 transcriptional repressor |
susceptibility |
ISO |
DNA:SNP:cds:c.107G>A(rs34631763)(human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17330099 PMID:20075157 |
RGD:11040450 |
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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G |
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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G |
Gpatch1 |
G patch domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:87,925,606...87,974,544
Ensembl chr 1:87,925,618...87,974,544
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G |
Gpi |
glucose-6-phosphate isomerase |
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ISO |
protein:increased expression:plasma: |
RGD |
PMID:6589021 |
RGD:11051848 |
NCBI chr 1:86,828,211...86,856,077
Ensembl chr 1:86,828,216...86,856,086
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G |
Gpx1 |
glutathione peroxidase 1 |
disease_progression treatment susceptibility |
ISO |
DNA:SNP: :c.599C>T (rs1050450) (human) DNA:polymorphism: :p.P198L (human) |
RGD |
PMID:26950655 PMID:22930375 PMID:26823947 |
RGD:11061784, RGD:11352817, RGD:11061561 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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G |
Gskip |
GSK3B interacting protein |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
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 |
Gsr |
glutathione-disulfide reductase |
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ISO |
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RGD |
PMID:24191316 |
RGD:11059506 |
NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility disease_progression |
ISO |
DNA:methylation: : DNA:deletion: : (human) |
RGD |
PMID:11488937 PMID:22924777 PMID:18035413 |
RGD:10450822, RGD:10755405, RGD:10755318 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
chemotherapy-induced; DNA:polymorphism:cds:p.I105V(human) |
RGD |
PMID:11553769 PMID:11906705 PMID:21729529 |
RGD:10755420, RGD:10755328, RGD:10755422 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
no_association disease_progression susceptibility |
ISO |
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RGD |
PMID:9164324 PMID:18035413 PMID:11488937 |
RGD:10450779, RGD:10755318, RGD:10450822 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Gtf2i |
general transcription factor II I |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243
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G |
H1f0 |
H1.0 linker histone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 7:110,592,834...110,594,694
Ensembl chr 7:110,592,208...110,594,694
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G |
H1f2 |
H1.2 linker histone, cluster member |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr17:41,391,106...41,392,611
Ensembl chr17:41,388,477...41,392,635
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G |
Hgf |
hepatocyte growth factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22683780 |
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NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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G |
Hmox1 |
heme oxygenase 1 |
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IEP |
mRNA:increased expression:brain, spleen |
RGD |
PMID:19268504 |
RGD:10755700 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Hoxa9 |
homeobox A9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22541086 |
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NCBI chr 4:81,323,235...81,329,344
Ensembl chr 4:81,323,382...81,326,358
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult |
ClinVar |
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:33372952 PMID:34008892 PMID:168335863 More...
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Hspb1 |
heat shock protein family B (small) member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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G |
Id2 |
inhibitor of DNA binding 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 6:41,740,556...41,742,393
Ensembl chr 6:41,728,946...41,744,400
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
disease_progression |
ISO |
DNA:mutation:cds:p.R132(human) ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult CTD Direct Evidence: marker/mechanism DNA:SNP::105C>T (rs11554137)(human) |
ClinVar CTD RGD |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25324972 PMID:25741868 PMID:26619011 PMID:27992414 PMID:27993330 PMID:29950729 PMID:30231226 PMID:36201590 PMID:20368543 PMID:25324972 More...
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RGD:11522718, RGD:11522721 |
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
disease_progression |
ISO |
DNA:mutation:cds:p.R172(human) ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult CTD Direct Evidence: marker/mechanism DNA:mutation:cds:p.R140 (human) |
ClinVar CTD RGD |
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21250968 PMID:21596855 PMID:21647154 PMID:21889589 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25324972 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:27992414 PMID:28166811 PMID:28492532 PMID:34641967 PMID:20368543 PMID:25324972 More...
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RGD:11522718, RGD:11522721 |
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Ifi30 |
IFI30, lysosomal thiol reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr16:18,675,651...18,679,857
Ensembl chr16:18,675,613...18,681,175
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Il10 |
interleukin 10 |
disease_progression |
ISO |
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RGD |
PMID:23357299 |
RGD:11046264 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il1a |
interleukin 1 alpha |
treatment |
ISO |
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RGD |
PMID:2460157 |
RGD:11051965 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il4r |
interleukin 4 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11918534 |
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NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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Il6 |
interleukin 6 |
disease_progression treatment |
ISO |
human protein in a rat model |
RGD |
PMID:23357299 PMID:8892684 |
RGD:11046264, RGD:11062010 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Inpp4b |
inositol polyphosphate-4-phosphatase type II B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29415082 |
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NCBI chr19:25,920,189...26,670,085
Ensembl chr19:25,925,358...26,280,634
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Insl6 |
insulin-like 6 |
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ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult |
ClinVar |
PMID:15781101 PMID:15793561 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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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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Itgav |
integrin subunit alpha V |
treatment |
ISO |
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RGD |
PMID:23770013 |
RGD:10755448 |
NCBI chr 3:68,838,524...68,926,653
Ensembl chr 3:68,838,189...68,926,639
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Itgb3 |
integrin subunit beta 3 |
treatment |
ISO |
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RGD |
PMID:23770013 PMID:23770013 |
RGD:10755448, RGD:10755448 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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Jak1 |
Janus kinase 1 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:16239216 PMID:19139102 PMID:19470474 PMID:19838194 PMID:21436584 PMID:21680795 More...
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NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926
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Jak2 |
Janus kinase 2 |
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ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:15781101 PMID:15793561 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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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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Kat6a |
lysine acetyltransferase 6A |
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ISO |
human gene in a mouse model;DNA:translocation:exon |
RGD |
PMID:12676584 |
RGD:9590334 |
NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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Kit |
KIT proto-oncogene receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult |
OMIM ClinVar |
PMID:7479840 PMID:7513208 PMID:7691885 PMID:8589724 PMID:9657776 PMID:9827716 PMID:9990072 PMID:11380399 PMID:11493470 PMID:14645423 PMID:14695343 PMID:15685537 PMID:15790786 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16741525 PMID:16912224 PMID:17259998 PMID:17699867 PMID:18024392 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:20890793 PMID:21642685 PMID:21689725 PMID:22504184 PMID:22932406 PMID:23149070 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 PMID:28506695 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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Klf1 |
KLF transcription factor 1 |
disease_progression |
ISO |
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RGD |
PMID:19097174 |
RGD:10769344 |
NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
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Kmt2a |
lysine methyltransferase 2A |
ameliorates treatment |
ISO |
human cell line in a mouse model CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10339604 PMID:26237430 PMID:8361504 PMID:26927674 PMID:33542482 |
RGD:1625285, RGD:11530086, RGD:155888491 |
NCBI chr 8:45,116,771...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Kmt2b |
lysine methyltransferase 2B |
susceptibility |
ISO |
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RGD |
PMID:25079327 |
RGD:9588599 |
NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
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Kmt2c |
lysine methyltransferase 2C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24794707 |
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NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
OMIM:601626 ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult |
ClinVar OMIM RGD |
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 PMID:8439212 PMID:8955068 PMID:12110640 PMID:12460918 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20652921 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 PMID:20978259 PMID:21063026 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22392911 PMID:22407852 PMID:22499344 PMID:22571758 PMID:22683711 PMID:22722830 PMID:22734028 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23182985 PMID:23255105 PMID:23325582 PMID:23406027 PMID:24033266 PMID:24558511 PMID:24720724 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26372703 PMID:26619011 PMID:26623049 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30443000 PMID:31891627 PMID:32581362 PMID:8955068 PMID:21283084 More...
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RGD:1600469, RGD:11060151 |
NCBI chr 4:178,185,418...178,218,484
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LOC100909954 |
uncharacterized LOC100909954 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
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NCBI chr 6:124,365,466...124,398,449
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Lpar1 |
lysophosphatidic acid receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 5:73,229,047...73,347,874
Ensembl chr 5:73,229,625...73,369,895
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Lpp |
LIM domain containing preferred translocation partner in lipoma |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr11:75,787,326...76,426,646
Ensembl chr11:75,797,078...76,422,597
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Lrp3 |
LDL receptor related protein 3 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:87,843,815...87,859,147
Ensembl chr 1:87,844,868...87,859,110
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Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia ClinVar Annotator: match by term: Acute myeloid leukemia, adult ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult |
ClinVar |
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20660566 PMID:20859122 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:33372952 PMID:34008892 PMID:168335863 More...
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Lyl1 |
LYL1, basic helix-loop-helix family member |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16094422 |
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NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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Mdm2 |
MDM2 proto-oncogene |
disease_progression |
ISO |
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RGD |
PMID:11064355 |
RGD:11251749 |
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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Mecom |
MDS1 and EVI1 complex locus |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30472098 |
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NCBI chr 2:112,909,353...113,464,583
Ensembl chr 2:112,909,321...113,464,590
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Mefv |
MEFV innate immunity regulator, pyrin |
susceptibility |
ISO |
DNA:polymorphisms:cds:p.M694V,E148Q(human) |
RGD |
PMID:22351163 |
RGD:11531114 |
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22683780 |
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NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mir155 |
microRNA 155 |
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ISO |
miRNA:increased expression:blood miRNA:decreased expression:peripheral blood mononuclear cell |
RGD |
PMID:28989535 PMID:26923190 |
RGD:24922214, RGD:25671477 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mlf1 |
myeloid leukemia factor 1 |
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ISO |
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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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Mllt10 |
MLLT10, histone lysine methyltransferase DOT1L cofactor |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr17:80,821,870...80,949,349
Ensembl chr17:80,822,556...80,949,345
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Mn1 |
MN1 proto-oncogene, transcriptional regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19822134 |
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NCBI chr12:45,184,060...45,220,102
Ensembl chr12:45,183,085...45,221,651
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Mthfr |
methylenetetrahydrofolate reductase |
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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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Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
susceptibility |
ISO |
DNA:polymorphism: :66A>G(human) |
RGD |
PMID:18774170 |
RGD:11075096 |
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Mx1 |
MX dynamin like GTPase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr11:36,799,659...36,825,209
Ensembl chr11:36,799,660...36,823,507
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Mybl2 |
MYB proto-oncogene like 2 |
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ISS |
OMIM:601626 |
MouseDO |
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NCBI chr 3:151,705,254...151,733,714
Ensembl chr 3:151,705,288...151,733,708
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Myc |
MYC proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25956709 |
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NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Myh11 |
myosin heavy chain 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 PMID:27798625 |
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NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Nat2 |
N-acetyltransferase 2 |
susceptibility no_association |
ISO |
DNA:polymorphisms,haplotype: : DNA:polymorphism: : |
RGD |
PMID:21888617 PMID:11352872 |
RGD:11532769, RGD:11532773 |
NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520
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Ncoa2 |
nuclear receptor coactivator 2 |
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ISO |
human gene in a mouse model;DNA:translocation:exon |
RGD |
PMID:12676584 |
RGD:9590334 |
NCBI chr 5:5,835,642...6,069,693
Ensembl chr 5:5,835,706...6,067,451
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Nectin2 |
nectin cell adhesion molecule 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:29855615 |
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NCBI chr 1:79,372,123...79,407,379
Ensembl chr 1:79,372,119...79,407,360
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Nf1 |
neurofibromin 1 |
severity disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism DNA:deletion: : |
CTD RGD |
PMID:21441929 PMID:25822087 PMID:23460398 PMID:12518368 |
RGD:12789444, RGD:12754447 |
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Nos3 |
nitric oxide synthase 3 |
disease_progression |
ISO |
DNA:polymorphgism: : 894 G>T(human) |
RGD |
PMID:24684492 |
RGD:11533640 |
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Npm1 |
nucleophosmin 1 |
onset disease_progression |
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia CTD Direct Evidence: marker/mechanism DNA:mutation:exon: |
ClinVar CTD OMIM RGD |
PMID:15659725 PMID:19657110 PMID:19822134 PMID:20026798 PMID:21441929 PMID:23877794 PMID:25741868 PMID:27992414 PMID:28492532 PMID:30420649 PMID:32581362 PMID:15659725 PMID:21441929 PMID:25992555 PMID:17957027 PMID:24184354 PMID:15659732 More...
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RGD:1600907, RGD:11534990, RGD:11070453, RGD:11049474, RGD:11049471, RGD:1600902 |
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
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Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
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ISO |
DNA:SNP: :609C>T (human) |
RGD |
PMID:19456854 |
RGD:10769358 |
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nras |
NRAS proto-oncogene, GTPase |
disease_progression |
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds: |
ClinVar CTD RGD |
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17699718 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:27992414 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:30417923 PMID:32888943 PMID:21283084 PMID:18952898 PMID:25204082 More...
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RGD:11060151, RGD:11070616, RGD:11535045 |
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Nsd1 |
nuclear receptor binding SET domain protein 1 |
severity |
ISO |
DNA:translocations:multiple (human) ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult |
ClinVar RGD |
PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:17565729 PMID:23190751 PMID:25741868 PMID:28492532 PMID:23630019 More...
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RGD:9590149 |
NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Ntrk3 |
neurotrophic receptor tyrosine kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29119387 |
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NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286
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Nup214 |
nucleoporin 214 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr 3:15,255,111...15,340,568
Ensembl chr 3:15,255,119...15,340,568
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Nup98 |
nucleoporin 98 and 96 precursor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21441929 |
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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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Pdcd1 |
programmed cell death 1 |
treatment |
ISO |
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RGD |
PMID:26712908 |
RGD:41410789 |
NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937
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Pde4b |
phosphodiesterase 4B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 5:116,799,827...117,367,707
Ensembl chr 5:116,799,971...117,367,696
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Phf6 |
PHD finger protein 6 |
severity |
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:31186809 |
RGD:155260286 |
NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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Picalm |
phosphatidylinositol binding clathrin assembly protein |
susceptibility |
ISO |
DNA:inversion: :inv(11)(q14q23) |
OMIM RGD |
PMID:12461747 |
RGD:1600760 |
NCBI chr 1:144,056,415...144,138,045
Ensembl chr 1:144,056,721...144,137,557
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Pim2 |
Pim-2 proto-oncogene, serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19458359 |
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NCBI chr X:14,617,582...14,622,851
Ensembl chr X:14,617,582...14,622,851
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Plcb1 |
phospholipase C beta 1 |
severity |
ISO |
mRNA:increased expression:blood (human) |
RGD |
PMID:20516454 |
RGD:11535940 |
NCBI chr 3:122,059,968...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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Pou4f1 |
POU class 4 homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr15:81,255,566...81,260,057
Ensembl chr15:81,257,781...81,259,728
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Pramex1 |
PRAME like, X-linked 1 |
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ISO |
mRNA:increased expression:bone marrow, mononuclear cell (human) |
RGD |
PMID:20376794 |
RGD:11535023 |
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Psip1 |
PC4 and SRSF1 interacting protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 5:97,847,010...97,879,280
Ensembl chr 5:97,847,015...97,879,257
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Ptch1 |
patched 1 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:32321774 |
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NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult |
CTD ClinVar |
PMID:12717436 PMID:14644997 PMID:15385933 PMID:15710330 PMID:15928039 PMID:16358218 PMID:17972951 PMID:19047918 PMID:19179468 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:27069254 PMID:27992414 PMID:28098151 PMID:30868567 More...
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Pvr |
PVR cell adhesion molecule |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:29855615 |
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NCBI chr 1:79,561,294...79,576,700
Ensembl chr 1:79,546,879...79,576,715
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Pxdn |
peroxidasin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 6:46,580,749...46,658,345
Ensembl chr 6:46,580,761...46,658,345
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Rac2 |
Rac family small GTPase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35331739 |
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NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
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Rac3 |
Rac family small GTPase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35331739 |
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NCBI chr10:106,002,808...106,005,244
Ensembl chr10:105,993,087...106,005,260
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Rasgrp1 |
RAS guanyl releasing protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21441929 |
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NCBI chr 3:104,168,549...104,230,107
Ensembl chr 3:104,170,013...104,230,056
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Rgs2 |
regulator of G-protein signaling 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr13:55,799,749...55,802,354
Ensembl chr13:55,798,829...55,802,385
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Rhpn2 |
rhophilin, Rho GTPase binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:87,991,144...88,051,902
Ensembl chr 1:87,991,144...88,051,902
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RT1-Bb |
RT1 class II, locus Bb |
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ISO |
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RGD |
PMID:20051322 PMID:17237562 |
RGD:11041763, RGD:11041776 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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Rtel1 |
regulator of telomere elongation helicase 1 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:25741868 |
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NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Runx1 |
RUNX family transcription factor 1 |
disease_progression |
ISO |
DNA:translocation ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, m0 subtype CTD Direct Evidence: marker/mechanism DNA:frameshift mutations, missense mutations, nonsense mutations: :multiple |
ClinVar CTD OMIM RGD |
PMID:10068652 PMID:10508512 PMID:11276260 PMID:12200707 PMID:12377125 PMID:12393679 PMID:12807882 PMID:15156185 PMID:16199547 PMID:17234761 PMID:18206229 PMID:18723428 PMID:19357396 PMID:19387465 PMID:19808697 PMID:20549580 PMID:20722699 PMID:20880108 PMID:23817177 PMID:24100448 PMID:24374719 PMID:24523240 PMID:24616160 PMID:24659740 PMID:24764152 PMID:24904105 PMID:25741868 PMID:25840971 PMID:27112265 PMID:27294619 PMID:27798625 PMID:28231333 PMID:28492532 PMID:28513614 PMID:29365323 PMID:30420649 PMID:31034769 PMID:31064749 PMID:32098966 PMID:32315381 PMID:32581362 PMID:34166225 PMID:34355501 PMID:12760263 PMID:19808697 PMID:11023523 More...
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RGD:6482833, RGD:11251704, RGD:11251692 |
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Runx1t1 |
RUNX1 partner transcriptional co-repressor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 PMID:27798625 |
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NCBI chr 5:27,187,674...27,338,070
Ensembl chr 5:27,187,551...27,335,592
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Runx3 |
RUNX family transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr 5:147,393,926...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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S100a10 |
S100 calcium binding protein A10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661
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S100a8 |
S100 calcium binding protein A8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21971985 |
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NCBI chr 2:176,166,517...176,167,645
Ensembl chr 2:176,167,124...176,167,643
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Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
severity |
ISO |
human cell line in mouse model |
RGD |
PMID:30474474 |
RGD:149735523 |
NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Septin9 |
septin 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10339604 |
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NCBI chr10:102,409,798...102,579,056
Ensembl chr10:102,409,711...102,579,055
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Sf3b1 |
splicing factor 3b, subunit 1 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:21909114 PMID:21995386 PMID:23395771 PMID:23634996 PMID:25741868 PMID:26619011 More...
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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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Sf3b2 |
splicing factor 3b, subunit 2 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia, adult |
ClinVar |
PMID:26619011 |
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NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
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Sgk1 |
serum/glucocorticoid regulated kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283
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Sh3gl1 |
SH3 domain containing GRB2 like 1, endophilin A2 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 9:842,285...869,753
Ensembl chr 9:842,288...869,716
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Slc7a10 |
solute carrier family 7 member 10 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:87,829,084...87,845,073
Ensembl chr 1:87,829,175...87,845,071
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Socs1 |
suppressor of cytokine signaling 1 |
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ISO |
DNA:hypermethylation: : |
RGD |
PMID:12759928 |
RGD:150573811 |
NCBI chr10:4,882,651...4,884,342
Ensembl chr10:4,882,560...4,884,383
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Sod2 |
superoxide dismutase 2 |
disease_progression |
ISO |
protein:increased expression:serum |
RGD |
PMID:1596865 PMID:16769586 |
RGD:11035286, RGD:11035289 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sparc |
secreted protein acidic and cysteine rich |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spi1 |
Spi-1 proto-oncogene |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26237430 |
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NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
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Spry4 |
sprouty RTK signaling antagonist 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25822087 |
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NCBI chr18:30,436,513...30,451,426
Ensembl chr18:30,436,443...30,453,004
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Srsf2 |
serine and arginine rich splicing factor 2 |
severity |
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:22431577 |
RGD:11039017 |
NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
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Srsf4 |
serine and arginine rich splicing factor 4 |
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ISO |
mRNA:decreased expression: (human) |
RGD |
PMID:22722453 |
RGD:11039059 |
NCBI chr 5:144,060,981...144,090,798
Ensembl chr 5:144,061,463...144,089,229
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Stat3 |
signal transducer and activator of transcription 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19796711 |
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NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Svil |
supervillin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr17:52,648,502...52,844,114
Ensembl chr17:52,648,502...52,793,404
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Syngr1 |
synaptogyrin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 7:111,635,911...111,659,341
Ensembl chr 7:111,635,918...111,659,341
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Tcea2 |
transcription elongation factor A2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 3:168,796,244...168,804,125
Ensembl chr 3:168,796,331...168,804,116
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Tcl1a |
Tcl1 family Akt coactivator A |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
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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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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Tek |
TEK receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:19340004 PMID:28492532 |
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NCBI chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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Tert |
telomerase reverse transcriptase |
disease_progression |
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to |
OMIM ClinVar RGD |
PMID:15814878 PMID:17460043 PMID:18042801 PMID:18460650 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19760749 PMID:19796246 PMID:20301779 PMID:20966039 PMID:21258621 PMID:21520173 PMID:21635204 PMID:22476886 PMID:22853774 PMID:23538340 PMID:23901009 PMID:23905534 PMID:24033266 PMID:24983628 PMID:25108601 PMID:25741868 PMID:26024875 PMID:26859482 PMID:28154186 PMID:28492532 PMID:23826993 More...
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RGD:11038655 |
NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
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Tet2 |
tet methylcytosine dioxygenase 2 |
disease_progression |
ISO |
DNA:deletions |
RGD |
PMID:23389918 PMID:25200248 |
RGD:11038681, RGD:11038682 |
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tfpi2 |
tissue factor pathway inhibitor 2 |
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ISO |
DNA:hypermethylation:promoter: |
RGD |
PMID:22052167 |
RGD:11060127 |
NCBI chr 4:31,981,786...31,986,707
Ensembl chr 4:31,982,178...31,986,600
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Tfr2 |
transferrin receptor 2 |
disease_progression |
ISO |
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RGD |
PMID:15015967 |
RGD:11062090 |
NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
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Tgm6 |
transglutaminase 6 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:21106500 PMID:23206699 PMID:24755948 PMID:25253745 PMID:26467025 PMID:28492532 PMID:28934387 PMID:30229425 PMID:30670339 PMID:31920494 PMID:32259886 PMID:32426513 More...
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NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734
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Tmem127 |
transmembrane protein 127 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia, adult |
ClinVar |
PMID:20923864 PMID:25741868 PMID:28492532 |
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NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519
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Tnfsf10 |
TNF superfamily member 10 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12780785 |
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NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
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Tnfsf8 |
TNF superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9058727 PMID:10512160 PMID:11918534 |
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NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
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Tnfsf9 |
TNF superfamily member 9 |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:11564827 |
RGD:2317350 |
NCBI chr 9:1,944,017...1,946,351
Ensembl chr 9:1,944,017...1,946,345
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Tp53 |
tumor protein p53 |
disease_progression treatment |
ISO |
DNA:mutation: : ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult CTD Direct Evidence: marker/mechanism DNA:mutations: : |
ClinVar CTD RGD |
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 PMID:1631151 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:7732013 PMID:7887414 PMID:7969167 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8242752 PMID:8336941 PMID:8344492 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8829653 PMID:9047394 PMID:9049183 PMID:9242456 PMID:9290701 PMID:9399658 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9607760 PMID:9627118 PMID:9662334 PMID:9825943 PMID:9891044 PMID:10411893 PMID:10432928 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10914716 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11315715 PMID:11370630 PMID:11403041 PMID:11429705 PMID:11479205 PMID:11494139 PMID:11593407 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11900253 PMID:11920959 PMID:12124823 PMID:12509279 PMID:12567188 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12792784 PMID:12826609 PMID:12917626 PMID:14559903 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15580553 PMID:15607980 PMID:15611505 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15951970 PMID:15977174 PMID:16199549 PMID:16209708 PMID:16258005 PMID:16288208 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16633321 PMID:16682957 PMID:16778209 PMID:16818505 PMID:16861262 PMID:16964264 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17724467 PMID:17875924 PMID:18307025 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18689542 PMID:19101993 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19462533 PMID:19521721 PMID:19556618 PMID:19681600 PMID:19759556 PMID:19834951 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20017945 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20308654 PMID:20407015 PMID:20506564 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20693561 PMID:20805372 PMID:21056685 PMID:21059199 PMID:21080251 PMID:21113594 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21672450 PMID:21761402 PMID:22090360 PMID:22109999 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22265402 PMID:22427690 PMID:22484423 PMID:22540896 PMID:22553421 PMID:22703879 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22862161 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22999923 PMID:23161690 PMID:23172776 PMID:23196062 PMID:23246812 PMID:23265383 PMID:23334668 PMID:23538418 PMID:23612969 PMID:23624782 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23887774 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24256616 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24810334 PMID:25157968 PMID:25339994 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25822087 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26066407 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26554828 PMID:26585234 PMID:26619011 PMID:26659639 PMID:26681312 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27022024 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27533082 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28176830 PMID:28271309 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30152528 PMID:30216591 PMID:30224644 PMID:30311369 PMID:30318520 PMID:30327374 PMID:30352134 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31105275 PMID:31119730 PMID:31121848 PMID:31206626 PMID:31300551 PMID:31559875 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32295079 PMID:32658383 PMID:32817165 PMID:33208383 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33635883 PMID:35938033 PMID:36988593 PMID:24836762 PMID:25412846 PMID:25573287 More...
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RGD:11073714, RGD:11057925, RGD:11075071 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Trh |
thyrotropin releasing hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637
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Trio |
trio Rho guanine nucleotide exchange factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135
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Tsc1 |
TSC complex subunit 1 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:25741868 PMID:26580448 PMID:28492532 |
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NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19250671 |
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NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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G |
Tubb2a |
tubulin, beta 2A class IIa |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714
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G |
Tyms |
thymidylate synthetase |
susceptibility |
ISO |
DNA:repeats,insertion/deletion:5'UTR, 3'UTR: |
RGD |
PMID:18774170 |
RGD:11075096 |
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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G |
U2af1 |
U2 small nuclear RNA auxiliary factor 1 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:26619011 |
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NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
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G |
Vegfa |
vascular endothelial growth factor A |
disease_progression |
ISO |
DNA:SNP,haplotype: :(rs3025039),(rs699947),(rs833061)(human) |
RGD |
PMID:17983459 |
RGD:13432134 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vopp1 |
VOPP1 WW domain binding protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr 4:87,363,678...87,432,747
Ensembl chr 4:87,363,477...87,450,375
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Vsig4 |
V-set and immunoglobulin domain containing 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr X:61,144,926...61,170,212
Ensembl chr X:61,144,928...61,170,212
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Wdr88 |
WD repeat domain 88 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:87,884,316...87,924,719
Ensembl chr 1:87,884,323...87,924,695
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Wt1 |
WT1 transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Acute myeloid leukemia |
CTD ClinVar |
PMID:19822134 PMID:24374862 PMID:24422723 PMID:24521058 PMID:24659740 PMID:24667279 PMID:24671364 PMID:25145932 PMID:25741868 PMID:27992414 More...
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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 |
Zbtb7a |
zinc finger and BTB domain containing 7a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27798625 |
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NCBI chr 7:8,561,015...8,578,243
Ensembl chr 7:8,563,779...8,576,539
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Zfp91 |
zinc finger protein 91 |
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IDA |
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RGD |
PMID:12738986 |
RGD:727221 |
NCBI chr 1:209,891,344...209,928,890
Ensembl chr 1:209,891,344...209,927,762
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Zrsr2 |
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 |
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ISO |
DNA:missense mutations:multiple (human) associated with aging |
RGD |
PMID:25550361 PMID:32027246 |
RGD:151232299, RGD:151347178 |
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
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Arhgap26 |
Rho GTPase activating protein 26 |
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ISO |
juvenile myelomonocytic leukemia, OMIM:607785 |
RGD |
PMID:10908648 |
RGD:1599311 |
NCBI chr18:30,835,806...31,237,945
Ensembl chr18:30,838,671...31,235,194
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G |
Cbfb |
core-binding factor subunit beta |
susceptibility |
ISO |
DNA:inversion: ;inv(16)(p13q22) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:10958941 PMID:8351518 |
RGD:1599543 |
NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
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ISO |
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RGD |
PMID:14681685 |
RGD:11252167 |
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
treatment |
ISO |
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RGD |
PMID:22187040 |
RGD:11049503 |
NCBI chr12:7,623,658...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Gmps |
guanine monophosphate synthase |
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ISO |
treatment-related acute type M4 myeloid leukemia; chromosomal translocation resulted in a fusion of MLL and GMPS genes |
RGD |
PMID:11110714 |
RGD:1598998 |
NCBI chr 2:148,441,369...148,491,908
Ensembl chr 2:148,435,643...148,485,875
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Kmt2a |
lysine methyltransferase 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8282816 |
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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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Myh11 |
myosin heavy chain 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10958941 |
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NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Abca1 |
ATP binding cassette subfamily A member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170
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Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12556562 |
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NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Aqp9 |
aquaporin 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23563754 |
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NCBI chr 8:71,797,231...71,837,485
Ensembl chr 8:71,797,234...71,837,395
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Asxl1 |
ASXL transcriptional regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
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NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Birc5 |
baculoviral IAP repeat-containing 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27770503 |
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NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Cd44 |
CD44 molecule (Indian blood group) |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:16208414 PMID:17349212 |
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NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
disease_progression |
ISO |
DNA:hyprmethylation:promoter: |
RGD |
PMID:12750706 |
RGD:11252187 |
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Cebpa |
CCAAT/enhancer binding protein alpha |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:16788101 PMID:26285909 |
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NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
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Cebpe |
CCAAT/enhancer binding protein epsilon |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16788101 |
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NCBI chr15:28,169,885...28,171,283
Ensembl chr15:28,169,704...28,171,814
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Dapk2 |
death-associated protein kinase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28978663 |
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NCBI chr 8:66,706,536...66,825,567
Ensembl chr 8:66,706,609...66,825,567
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Dhcr7 |
7-dehydrocholesterol reductase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr 1:199,015,081...199,031,055
Ensembl chr 1:199,015,081...199,031,055
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Dnmt3a |
DNA methyltransferase 3 alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
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NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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F3 |
coagulation factor III, tissue factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16206674 PMID:10726043 |
RGD:11340216 |
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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Flt3 |
Fms related receptor tyrosine kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17454189 PMID:24160850 PMID:26285909 |
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NCBI chr12:7,623,658...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Fndc3b |
fibronectin type III domain containing 3B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28314734 |
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NCBI chr 2:110,311,439...110,617,504
Ensembl chr 2:110,312,694...110,547,830
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Gli1 |
GLI family zinc finger 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23867347 |
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NCBI chr 7:63,156,926...63,169,579
Ensembl chr 7:63,156,926...63,169,251
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Gli2 |
GLI family zinc finger 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23867347 |
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NCBI chr13:29,946,809...30,163,901
Ensembl chr13:29,946,809...30,163,574
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Gphn |
gephyrin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612
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Gstt1 |
glutathione S-transferase theta 1 |
susceptibility |
ISO |
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RGD |
PMID:21875282 |
RGD:10755406 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
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NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
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NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Ifng |
interferon gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22617429 |
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NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il17a |
interleukin 17A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22617429 |
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NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18bp |
interleukin 18 binding protein |
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ISO |
ClinVar Annotator: match by term: Acute promyelocytic leukemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:156,372,923...156,374,963
Ensembl chr 1:156,372,883...156,374,963
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Irf2bp2 |
interferon regulatory factor 2 binding protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25583766 |
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NCBI chr19:54,559,409...54,564,714
Ensembl chr19:54,560,128...54,566,642
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Itgal |
integrin subunit alpha L |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16764927 |
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NCBI chr 1:181,918,183...181,955,735
Ensembl chr 1:181,918,183...181,955,732
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Itgam |
integrin subunit alpha M |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16764927 |
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NCBI chr 1:182,659,047...182,709,495
Ensembl chr 1:182,659,000...182,709,503
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Itgax |
integrin subunit alpha X |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16764927 |
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NCBI chr 1:182,709,653...182,740,709
Ensembl chr 1:182,719,609...182,740,698
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Itgb2 |
integrin subunit beta 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16764927 |
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NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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Kit |
KIT proto-oncogene receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
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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 |
Kmt2e |
lysine methyltransferase 2E |
severity |
ISO |
mRNA:decreased expression:peripheral blood, bone marrow, mononuclear cells (human) |
RGD |
PMID:24796963 |
RGD:9588539 |
NCBI chr 4:11,657,811...11,727,373
Ensembl chr 4:11,658,979...11,727,373
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G |
Lat2 |
linker for activation of T cells family, member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32587277 |
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NCBI chr12:22,104,163...22,118,294
Ensembl chr12:22,104,219...22,118,288
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Lep |
leptin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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G |
Ltc4s |
leukotriene C4 synthase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
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G |
Me1 |
malic enzyme 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr 8:87,549,043...87,660,251
Ensembl chr 8:87,549,043...87,660,304
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G |
Mtarc2 |
mitochondrial amidoxime reducing component 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr13:96,362,810...96,397,284
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
onset |
ISO |
mRNA:increased expression:promyelocyte: |
RGD |
PMID:21059853 PMID:21059853 |
RGD:11532756, RGD:11532756 |
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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G |
Ncam1 |
neural cell adhesion molecule 1 |
disease_progression |
ISO |
|
RGD |
PMID:24296270 |
RGD:40907062 |
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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G |
Npm1 |
nucleophosmin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:14508522 PMID:26285909 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 |
Nras |
NRAS proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
|
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Numa1 |
nuclear mitotic apparatus protein 1 |
|
ISO |
ClinVar Annotator: match by term: Acute promyelocytic leukemia |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855
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G |
Plat |
plasminogen activator, tissue type |
|
ISO |
protein:increased expression:leukocyte (human) |
RGD |
PMID:10861807 |
RGD:11541060 |
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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G |
Pml |
PML nuclear body scaffold |
|
ISO |
human PML/RARA gene fusion in a mouse model CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:8616088 PMID:10742073 PMID:14706140 PMID:16788101 PMID:16835227 PMID:16891316 PMID:16935935 PMID:17294898 PMID:17649720 PMID:19029980 PMID:19035177 PMID:19884644 PMID:19887701 PMID:21345080 PMID:21613260 PMID:22213200 PMID:23208507 PMID:23734343 PMID:26285909 PMID:26728337 PMID:32882258 PMID:32929351 PMID:9122233 More...
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RGD:41404695 |
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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G |
Pparg |
peroxisome proliferator-activated receptor gamma |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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G |
Pramex1 |
PRAME like, X-linked 1 |
severity |
ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:18815192 |
RGD:11535037 |
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17712046 |
|
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32417439 |
|
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Rap1gap |
Rap1 GTPase-activating protein |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22614916 |
|
NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
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G |
Rara |
retinoic acid receptor, alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD OMIM RGD |
PMID:8616088 PMID:10742073 PMID:14508522 PMID:14706140 PMID:16239915 PMID:16788101 PMID:16835227 PMID:16891316 PMID:16935935 PMID:17294898 PMID:17649720 PMID:17712046 PMID:19029980 PMID:19035177 PMID:19884644 PMID:19887701 PMID:21613260 PMID:22213200 PMID:23208507 PMID:25583766 PMID:26285909 PMID:26728337 PMID:28314734 PMID:32882258 PMID:32929351 PMID:15659732 More...
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RGD:1600902 |
NCBI chr10:83,883,490...83,928,932
Ensembl chr10:83,893,384...83,928,142
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G |
Retn |
resistin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr12:1,710,881...1,712,621
Ensembl chr12:1,710,881...1,712,620
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G |
Rock1 |
Rho-associated coiled-coil containing protein kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32417439 |
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NCBI chr18:1,114,532...1,236,345
Ensembl chr18:1,115,905...1,235,571
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G |
Slit2 |
slit guidance ligand 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:33120864 |
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NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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G |
Smo |
smoothened, frizzled class receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23867347 |
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NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829
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G |
Tet2 |
tet methylcytosine dioxygenase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
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NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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G |
Thbd |
thrombomodulin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16206674 |
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NCBI chr 3:135,863,366...135,867,018
Ensembl chr 3:135,862,835...135,867,193
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G |
Tmem127 |
transmembrane protein 127 |
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ISO |
ClinVar Annotator: match by term: Acute promyelocytic leukemia |
ClinVar |
PMID:25741868 PMID:28492532 PMID:32575117 |
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NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519
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G |
Top2a |
DNA topoisomerase II alpha |
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ISO |
ClinVar Annotator: match by term: Dna topoisomerase II, resistance to inhibition of, by amsacrine |
ClinVar |
PMID:1651812 |
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NCBI chr10:83,946,186...83,975,694
Ensembl chr10:83,945,735...83,976,874
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G |
Trib3 |
tribbles pseudokinase 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr 3:140,809,634...140,815,230
Ensembl chr 3:140,809,043...140,814,497
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G |
Wt1 |
WT1 transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
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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 |
Zbtb16 |
zinc finger and BTB domain containing 16 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23208507 PMID:8387545 |
RGD:1599922 |
NCBI chr 8:48,989,376...49,177,011
Ensembl chr 8:48,994,566...49,177,011
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G |
Birc5 |
baculoviral IAP repeat-containing 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16497974 |
|
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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G |
Bmp6 |
bone morphogenetic protein 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18688853 |
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NCBI chr17:26,318,121...26,469,034
Ensembl chr17:26,318,569...26,470,365
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G |
Card11 |
caspase recruitment domain family, member 11 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr12:13,620,979...13,758,115
Ensembl chr12:13,621,087...13,758,112
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G |
Ccr4 |
C-C motif chemokine receptor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 8:114,176,256...114,182,155
Ensembl chr 8:114,176,974...114,178,056
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G |
Ccr7 |
C-C motif chemokine receptor 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr10:84,098,193...84,108,309
Ensembl chr10:84,097,381...84,108,309
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G |
Cd163 |
CD163 molecule |
disease_progression |
ISO |
protein:increased expression:lymph node tumor (human) |
RGD |
PMID:23557330 |
RGD:42721976 |
NCBI chr 4:157,085,080...157,118,470
Ensembl chr 4:157,085,093...157,117,878
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G |
Cd274 |
CD274 molecule |
disease_progression |
ISO |
|
RGD |
PMID:27418641 |
RGD:41412177 |
NCBI chr 1:227,116,627...227,137,379
Ensembl chr 1:227,116,649...227,134,450
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G |
Cd28 |
Cd28 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 9:62,166,324...62,194,674
Ensembl chr 9:62,166,192...62,194,685
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G |
Cd68 |
Cd68 molecule |
disease_progression |
ISO |
protein:increased expression:lymph node tumor (human) |
RGD |
PMID:23557330 |
RGD:42721976 |
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
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G |
Cd80 |
Cd80 molecule |
|
IMP |
|
RGD |
PMID:10590132 |
RGD:6902938 |
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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G |
Cd86 |
CD86 molecule |
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IMP |
|
RGD |
PMID:10590132 |
RGD:6902938 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Csnk1a1 |
casein kinase 1, alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr18:55,017,049...55,050,184
Ensembl chr18:55,017,055...55,049,271
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G |
Csnk2a1 |
casein kinase 2 alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696
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G |
Csnk2b |
casein kinase 2 beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr20:3,700,363...3,705,331
Ensembl chr20:3,698,733...3,707,133
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Fas |
Fas cell surface death receptor |
susceptibility |
ISO |
DNA:polymorphism:promoter: -670 G>A(human) protein:increased expression:peripheral blood mononuclear cell: |
RGD |
PMID:17962369 PMID:7513372 |
RGD:11049147, RGD:11049453 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Foxp3 |
forkhead box P3 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23962110 PMID:23797717 |
RGD:38456007 |
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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G |
Fyn |
FYN proto-oncogene, Src family tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr20:42,767,733...42,960,903
Ensembl chr20:42,766,369...42,959,911
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G |
Gata3 |
GATA binding protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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G |
Gpr183 |
G protein-coupled receptor 183 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr15:99,037,764...99,050,550
Ensembl chr15:99,036,367...99,050,559
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|
G |
Hnrnpa2b1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
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G |
Icos |
inducible T-cell co-stimulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 9:62,368,075...62,406,900
Ensembl chr 9:62,383,832...62,405,672
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G |
Ifna1 |
interferon, alpha 1 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:20370541 |
|
NCBI chr 5:103,095,767...103,098,260
Ensembl chr 5:103,097,356...103,097,925
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G |
Ifng |
interferon gamma |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23962110 PMID:8800741 |
RGD:10755707 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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G |
Ikzf2 |
IKAROS family zinc finger 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 9:71,042,440...71,191,296
Ensembl chr 9:71,042,440...71,190,867
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G |
Il10 |
interleukin 10 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23962110 PMID:8704212 |
RGD:11049460 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il2 |
interleukin 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110 |
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NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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G |
Il4 |
interleukin 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110 |
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NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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G |
Il5 |
interleukin 5 |
disease_progression |
ISO |
protein:increased expression:serum |
RGD |
PMID:16425276 |
RGD:11354942 |
NCBI chr10:37,874,342...37,877,213
Ensembl chr10:37,874,342...37,877,213
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G |
Il6 |
interleukin 6 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:10374863 |
RGD:11060275 |
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Irf4 |
interferon regulatory factor 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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G |
Jak3 |
Janus kinase 3 |
|
ISO |
DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) |
RGD |
PMID:21821710 |
RGD:11531131 |
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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G |
Myb |
MYB proto-oncogene, transcription factor |
disease_progression |
ISO |
mRNA:splice variants:CD4+ T cell: |
RGD |
PMID:27307595 |
RGD:11532670 |
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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G |
Notch1 |
notch receptor 1 |
|
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:16707600 |
RGD:1580759 |
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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G |
Nras |
NRAS proto-oncogene, GTPase |
disease_progression |
ISO |
|
RGD |
PMID:21586752 |
RGD:11535055 |
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Plcg1 |
phospholipase C, gamma 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
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G |
Prkcb |
protein kinase C, beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
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G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24090995 |
|
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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G |
Tal2 |
TAL bHLH transcription factor 2 |
|
ISO |
|
RGD |
PMID:1763056 |
RGD:1599285 |
NCBI chr 5:68,411,012...68,417,569
Ensembl chr 5:68,411,012...68,417,569
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G |
Terf2 |
telomeric repeat binding factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17643074 |
|
NCBI chr19:34,976,963...35,005,813
Ensembl chr19:34,977,471...35,005,819
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G |
Tlx1 |
T-cell leukemia, homeobox 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:1717256 PMID:1683261 |
RGD:1599439 |
NCBI chr 1:244,005,057...244,011,318
Ensembl chr 1:244,005,057...244,011,318
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G |
Tnfsf8 |
TNF superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9058727 |
|
NCBI chr 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
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G |
Tp53 |
tumor protein p53 |
|
ISO |
|
GAD |
PMID:15118671 |
RGD:1331525 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Tp73 |
tumor protein p73 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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|
G |
Vav1 |
vav guanine nucleotide exchange factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
|
NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937
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G |
Atrx |
ATRX, chromatin remodeler |
|
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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G |
Adh5 |
alcohol dehydrogenase 5 (class III), chi polypeptide |
|
ISO |
ClinVar Annotator: match by term: AMED syndrome, digenic |
OMIM ClinVar |
PMID:25741868 PMID:33355142 |
|
NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
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G |
Aldh2 |
aldehyde dehydrogenase 2 family member |
|
ISO |
ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC |
ClinVar |
PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 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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Alk |
ALK receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16151469 PMID:19503098 PMID:21345110 PMID:22155737 PMID:22920921 PMID:22968692 PMID:15659732 More...
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RGD:1600902 |
NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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Hsp90aa1 |
heat shock protein 90 alpha family class A member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17157164 |
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NCBI chr 6:129,702,376...129,707,907
Ensembl chr 6:129,702,383...129,707,268
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Irf4 |
interferon regulatory factor 4 |
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ISO |
DNA:translocation |
RGD |
PMID:18987657 |
RGD:11526155 |
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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Junb |
JunB proto-oncogene, AP-1 transcription factor subunit |
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ISO |
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RGD |
PMID:12145210 |
RGD:1549449 |
NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
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Npm1 |
nucleophosmin 1 |
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ISO |
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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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Rela |
RELA proto-oncogene, NF-kB subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17261581 |
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NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Stat3 |
signal transducer and activator of transcription 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22155737 |
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NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tnfrsf8 |
TNF receptor superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10908157 PMID:17261581 |
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NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421
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Twist1 |
twist family bHLH transcription factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22155737 |
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NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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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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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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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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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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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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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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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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Ercc4 |
ERCC excision repair 4, endonuclease catalytic subunit |
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ISO |
ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia |
ClinVar |
PMID:23623386 PMID:25741868 |
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NCBI chr10:2,416,259...2,448,364
Ensembl chr10:2,419,038...2,448,369
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Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia |
ClinVar |
PMID:9536098 PMID:17576681 PMID:23656349 PMID:25741868 PMID:28492532 |
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Wt1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: B Acute Lymphoblastic Leukemia |
ClinVar |
PMID:8621495 PMID:12640141 PMID:16987884 PMID:25741868 PMID:28492532 PMID:28811308 More...
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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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Abcg2 |
ATP binding cassette subfamily G member 2 |
susceptibility |
ISO |
DNA:SNPs,haplotype: :rs1481012,rs2231142(human) |
RGD |
PMID:21918980 |
RGD:11080977 |
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Acoxl |
acyl-CoA oxidase-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr 3:115,061,045...115,367,032
Ensembl chr 3:115,061,060...115,364,686
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Aicda |
activation-induced cytidine deaminase |
disease_progression |
ISO |
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RGD |
PMID:21133730 |
RGD:11039455 |
NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Apoe |
apolipoprotein E |
disease_progression |
ISO |
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RGD |
PMID:18784741 |
RGD:11040549 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Atm |
ATM serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17968022 |
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NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Bcl11a |
BCL11 transcription factor A |
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ISO |
DNA:translocation:5' utr: (human) |
RGD |
PMID:11719382 |
RGD:11100004 |
NCBI chr14:98,029,018...98,124,181
Ensembl chr14:98,030,461...98,124,180
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Bcl2 |
BCL2, apoptosis regulator |
treatment severity no_association |
ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:B cell (human) DNA:snp:promoter:g.-938C>A (human) |
CTD RGD |
PMID:21750559 PMID:23770605 PMID:17296974 PMID:20001236 PMID:17959858 PMID:16960146 More...
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RGD:11522735, RGD:11526110, RGD:11526105, RGD:11526104 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bmf |
Bcl2 modifying factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr 3:105,499,534...105,520,159
Ensembl chr 3:105,499,538...105,520,145
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia | ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:12068308 PMID:12198537 PMID:12692057 PMID:12960123 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15035987 PMID:16187918 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17704260 PMID:18039235 PMID:18060073 PMID:18368129 PMID:18413255 PMID:18794803 PMID:19206169 PMID:19376813 PMID:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 PMID:21062266 PMID:21129611 PMID:21639808 PMID:22048237 PMID:22310681 PMID:22495831 PMID:22663011 PMID:22972589 PMID:23352452 PMID:23680146 PMID:24033266 PMID:24451042 PMID:25155755 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:28832562 PMID:29595366 More...
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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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Btk |
Bruton tyrosine kinase |
treatment |
ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia |
ClinVar RGD |
PMID:24869598 PMID:25741868 PMID:28492532 PMID:23045577 |
RGD:11040699 |
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cbl |
Cbl proto-oncogene |
severity |
ISO |
mRNA,protein:increased expression:CD5+ B cell: DNA:hypophosphorylation:CD5+ B cell: |
RGD |
PMID:17804547 PMID:17804547 |
RGD:11038803, RGD:11038803 |
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Ccdc50 |
coiled-coil domain containing 50 |
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ISO |
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RGD |
PMID:19641524 |
RGD:9685139 |
NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150
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Cd40 |
CD40 molecule |
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ISO |
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RGD |
PMID:20616215 |
RGD:5490532 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd40lg |
CD40 ligand |
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ISO |
mouse-human chimeric gene in human |
RGD |
PMID:20882050 |
RGD:11352235 |
NCBI chr X:135,127,119...135,138,302
Ensembl chr X:135,126,969...135,138,306
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Cd5 |
Cd5 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr 1:207,365,337...207,386,313
Ensembl chr 1:207,365,337...207,386,313
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Cd79b |
CD79b molecule |
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ISO |
protein:decreased expression:B lymphocyte, cell surface (human) DNA:polymorphism:multiple (human) mRNA, protein:splice variants, alternative forms:exon 3 (human) |
RGD |
PMID:9269755 PMID:10552962 PMID:10090943 |
RGD:11250403, RGD:151665202, RGD:151665190 |
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Cd86 |
CD86 molecule |
severity |
ISO |
protein:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:25179679 |
RGD:11354969 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Cpeb1 |
cytoplasmic polyadenylation element binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062064 |
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NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
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Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
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ISO |
protein:increased expression:T cell |
RGD |
PMID:16094420 PMID:15914560 |
RGD:11344923, RGD:11352246 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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Dkc1 |
dyskerin pseudouridine synthase 1 |
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ISO |
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RGD |
PMID:18077792 |
RGD:11251735 |
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Dnmt3b |
DNA methyltransferase 3 beta |
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ISO |
mRNA:decreased expression: B cell |
RGD |
PMID:15467427 |
RGD:9589146 |
NCBI chr 3:142,130,592...142,169,124
Ensembl chr 3:142,130,592...142,169,124
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Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
severity |
ISO |
DNA:SNP: :p.K751Q (rs13181) (human) |
RGD |
PMID:22739018 PMID:19484764 |
RGD:11252203, RGD:11252204 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Farp2 |
FERM, ARH/RhoGEF and pleckstrin domain protein 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20062064 |
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NCBI chr 9:94,053,650...94,162,212
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