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 cancer |
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Accession: | DOID:2531
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browse the term
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Definition: | An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. (DO) |
Synonyms: | exact_synonym: | blood cancer; hematologic malignancies; hematologic malignancy; hematological malignancies; hematological malignancy; hematological tumors; hematopoietic and lymphoid system tumor; hematopoietic cancer; hematopoietic tumors; malignant hematopoietic neoplasm |
| xref: | NCI:C27134 |
For additional species annotation, visit the
Alliance of Genome Resources.
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KIT |
KIT proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Hematological malignancies |
ClinVar |
PMID:7479840 PMID:7513208 PMID:7691885 PMID:8589724 PMID:9657776 PMID:9827716 PMID:9990072 PMID:11380399 PMID:11493470 PMID:15790786 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16741525 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:21689725 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 More...
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NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
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SLC19A1 |
solute carrier family 19 member 1 |
ameliorates |
ISO |
DNA:missense mutation:CDS:p.H27R (human) |
RGD |
PMID:21984221 |
RGD:10449413 |
NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
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TP53 |
tumor protein p53 |
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ISO |
DNA:missense mutation::p.R337H (human) |
RGD |
PMID:28387921 |
RGD:14995484 |
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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DOT1L |
DOT1 like histone lysine methyltransferase |
treatment |
ISO |
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RGD |
PMID:23801631 |
RGD:9588291 |
NCBI chr20:56,805,030...56,868,771
Ensembl chr20:56,803,242...56,852,539
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KMT2A |
lysine methyltransferase 2A |
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ISO |
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OMIM |
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NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971
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RNF20 |
ring finger protein 20 |
disease_progression |
ISO |
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RGD |
PMID:23412334 |
RGD:9831405 |
NCBI chr11:58,239,245...58,266,637
Ensembl chr11:58,239,313...58,265,866
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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 chr 4:35,854,382...35,859,853
Ensembl chr 4:35,854,597...35,859,852
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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 chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284
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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 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812
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HOXB9 |
homeobox B9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr 9:24,884,101...24,889,904
Ensembl chr 9:24,872,950...24,889,376
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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 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971
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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 chr 4:40,756,464...40,770,174
Ensembl chr 4:40,756,465...40,770,175
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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 chr21:26,231,585...26,348,019
Ensembl chr21:26,220,963...26,336,020
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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 chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
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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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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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:9195225 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 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
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ABCB1 |
ATP binding cassette subfamily B member 1 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:snps, haplotype:multiple (human) |
CTD RGD |
PMID:22674224 |
RGD:8657089 |
NCBI chr14:13,644,891...13,852,829
Ensembl chr14:13,542,647...13,742,727
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ABCC2 |
ATP binding cassette subfamily C member 2 |
treatment |
ISO |
DNA:SNPs: :rs717620(human) DNA:SNP:5'UTR:rs717620(human) |
RGD |
PMID:24404132 PMID:25007187 |
RGD:11080959 RGD:11080979 |
NCBI chr28:12,670,885...12,740,124
Ensembl chr28:12,670,885...12,740,740
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ABCG2 |
ATP binding cassette subfamily G member 2 |
disease_progression |
ISO |
mRNA:increased expression:mononuclear cell: |
RGD |
PMID:12100141 PMID:15521915 |
RGD:11081076 RGD:11081143 |
NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674
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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 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307
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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 9:49,746,749...49,758,317
Ensembl chr 9:49,748,693...49,758,479
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AICDA |
activation induced cytidine deaminase |
treatment |
ISO |
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RGD |
PMID:19759560 |
RGD:11039451 |
NCBI chr27:37,064,107...37,073,791
Ensembl chr27:37,064,080...37,073,789
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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 chr 4:13,926,759...14,105,069
Ensembl chr 4:13,927,217...14,101,364
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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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Ensembl chr17:59,941,353...60,010,867 Ensembl chr17:59,941,353...60,010,867
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BAX |
BCL2 associated X, apoptosis regulator |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr 1:107,423,388...107,426,464
Ensembl chr 1:107,422,424...107,426,464
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BCL2 |
BCL2 apoptosis regulator |
severity |
ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:25982455 |
RGD:11076595 |
NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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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 chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
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BCR |
BCR activator of RhoGEF and GTPase |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr26:27,856,280...27,980,923
Ensembl chr26:27,856,082...27,978,318
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CASP8 |
caspase 8 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:22010212 |
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NCBI chr37:10,362,071...10,402,108
Ensembl chr37:10,391,048...10,401,822
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CAST |
calpastatin |
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ISO |
protein:increased expresssion:B cell |
RGD |
PMID:11264179 |
RGD:5509822 |
NCBI chr 3:12,920,514...13,031,974
Ensembl chr 3:12,922,453...13,031,959
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CCND1 |
cyclin D1 |
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ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:22391157 |
RGD:11352824 |
NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
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CD40LG |
CD40 ligand |
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ISO |
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RGD |
PMID:9292526 |
RGD:11352271 |
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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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 chr 9:11,834,230...11,844,946
Ensembl chr 9:11,842,190...11,844,843
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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 chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
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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 chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869
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CDKN2A |
cyclin dependent kinase inhibitor 2A |
disease_progression susceptibility no_association |
ISO |
DNA:deletion: : CTD Direct Evidence: marker/mechanism DNA:missense mutations:cds: |
RGD CTD |
PMID:9204978 PMID:10090949 PMID:20453839 PMID:25675863 PMID:26104880 |
RGD:11057958 RGD:11251764 RGD:11252081 RGD:11252082 |
NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
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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 chr 8:3,423,046...3,425,595
Ensembl chr 8:3,423,040...3,425,217
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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 chr12:1,400,143...1,406,267
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CREBBP |
CREB binding protein |
disease_progression |
ISO |
DNA:mutations:multiple |
RGD |
PMID:25917266 |
RGD:11060149 |
NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
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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 chr X:780,924...801,961
Ensembl chr X:780,711...802,836
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CSF3 |
colony stimulating factor 3 |
treatment |
ISO |
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RGD |
PMID:9250830 |
RGD:11039038 |
NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
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CSPG4 |
chondroitin sulfate proteoglycan 4 |
severity |
ISO |
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RGD |
PMID:8562939 |
RGD:734840 |
NCBI chr30:38,465,486...38,498,365
Ensembl chr30:38,465,241...38,497,971
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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 chr 5:64,692,865...64,701,056
Ensembl chr 5:64,692,123...64,704,893
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CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
no_association susceptibility |
ISO |
DNA:polymorphism:3'UTR:3801T>C(human) DNA:polymorphism:cds:2452C>A(p.T461N)(human) DNA:polymorphism:3"UTR:rs4646903(human) |
RGD |
PMID:16676594 PMID:22964275 PMID:23725389 |
RGD:11352714 RGD:11352725 RGD:11352728 |
NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
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CYP1A2 |
cytochrome P450 family 1 subfamily A member 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
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NCBI chr30:37,818,400...37,824,192
Ensembl chr30:37,799,140...37,824,135
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CYP1B1 |
cytochrome P450 family 1 subfamily B member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
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NCBI chr17:30,273,281...30,278,554
Ensembl chr17:30,272,749...30,278,554
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CYP2D15 |
cytochrome P450 family 2 subfamily D member 15 |
susceptibility |
ISO |
DNA:polymorphisms: : DNA:SNP,deletion:splice junction,exon:1934G>A(human) |
RGD |
PMID:11037802 PMID:19593802 |
RGD:11252111 RGD:11352820 |
NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298
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CYP2E1 |
cytochrome P450 family 2 subfamily E member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11774269 |
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NCBI chr28:41,079,164...41,089,188
Ensembl chr28:41,035,025...41,122,754
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DHFR |
dihydrofolate reductase |
disease_progression |
ISO |
DNA:polymorphisms, haplotype:promoter: DNA:polymorphisms: :-317A>G, 829C>T (human) |
RGD |
PMID:9226157 PMID:12972803 PMID:19861437 PMID:22969948 |
RGD:11039542 RGD:11039543 RGD:11039544 RGD:11039545 |
NCBI chr 3:26,521,214...26,556,065
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DNMT3A |
DNA methyltransferase 3 alpha |
treatment |
ISO |
DNA:mutations:exon, intron:p.R882(human) |
RGD |
PMID:25242092 |
RGD:11041125 |
NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902
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DNTT |
DNA nucleotidylexotransferase |
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ISO |
protein:increased activity:peripheral blood,bone marrow: |
RGD |
PMID:7020399 |
RGD:8694149 |
NCBI chr28:9,729,812...9,759,019
Ensembl chr28:9,729,814...9,759,008
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DPYD |
dihydropyrimidine dehydrogenase |
disease_progression no_association |
ISO |
DNA:splice-site mutation:intron:IVS14+1G>A (human) DNA:SNPs: :2194G>A, 1156G>T (human) DNA:SNP: :85T>C (human) |
RGD |
PMID:26846104 |
RGD:11098453 |
NCBI chr 6:51,789,786...52,564,802
Ensembl chr 6:51,814,573...52,580,923
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EHMT1 |
euchromatic histone lysine methyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32889036 |
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NCBI chr 9:48,031,593...48,110,954
Ensembl chr 9:48,032,709...48,175,828
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EHMT2 |
euchromatic histone lysine methyltransferase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32889036 |
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NCBI chr12:1,341,202...1,354,602
Ensembl chr12:1,341,191...1,354,584
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ENG |
endoglin |
disease_progression |
ISO |
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RGD |
PMID:17572488 |
RGD:11041565 |
NCBI chr 9:55,558,246...55,590,081
Ensembl chr 9:55,558,305...55,589,064
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EPHX1 |
epoxide hydrolase 1 |
susceptibility no_association |
ISO |
DNA:polymorphisms:exon DNA:SNPs:exon:rs1051740, rs2234922 (human) DNA:missense mutation, haplotype:exon:p.H139R (human) CTD Direct Evidence: marker/mechanism DNA:missense mutation, haplotype:exon:p.Y113H (human) |
RGD CTD |
PMID:19593802 PMID:21983886 PMID:22200898 PMID:22930568 |
RGD:11252110 RGD:11252111 RGD:11252113 RGD:11252114 |
NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238
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ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
susceptibility |
ISO |
DNA:SNPs, haplotypes: :p.R194W, p.R280H, p.R399Q (human) DNA:SNPs: :8092C>A, 19007G>A (human) |
RGD |
PMID:16435384 PMID:16723154 |
RGD:11252160 RGD:11340204 |
NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602
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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 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
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ERG |
ETS transcription factor ERG |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27776115 |
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NCBI chr31:33,456,902...33,562,704
Ensembl chr31:33,497,209...33,515,272
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ETV6 |
ETS variant transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Acute lymphoid leukemia |
ClinVar |
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NCBI chr27:34,351,206...34,587,060
Ensembl chr27:34,343,390...34,587,060
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F3 |
coagulation factor III, tissue factor |
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ISO |
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RGD |
PMID:8429686 |
RGD:11340211 |
NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
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FAS |
Fas cell surface death receptor |
disease_progression |
ISO |
protein:increased expression:CD34+ bone marrow cell |
RGD |
PMID:9711907 PMID:10500800 |
RGD:11049148 RGD:11049157 |
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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FGA |
fibrinogen alpha chain |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:25317080 |
RGD:11040558 |
NCBI chr15:52,238,305...52,247,017
Ensembl chr15:52,236,198...52,246,975
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FLT3 |
fms related receptor tyrosine kinase 3 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Acute lymphoid leukemia |
OMIM ClinVar |
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 chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284
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FPGS |
folylpolyglutamate synthase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25013492 |
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NCBI chr 9:55,590,092...55,612,639
Ensembl chr 9:55,585,970...55,599,028
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GATA3 |
GATA binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35115686 |
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NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760
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GFI1B |
growth factor independent 1B transcriptional repressor |
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ISO |
mRNA:increased expression:blood: |
RGD |
PMID:19360458 |
RGD:11040460 |
NCBI chr 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812
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G |
GNB1 |
G protein subunit beta 1 |
susceptibility |
ISO |
ClinVar Annotator: match by term: Acute lymphoblastic leukemia | ClinVar Annotator: match by term: Lymphoblastic leukemia |
OMIM ClinVar |
PMID:25485910 PMID:25741868 PMID:27108799 PMID:28492532 PMID:32134617 |
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NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295
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G |
GPI |
glucose-6-phosphate isomerase |
|
ISO |
|
RGD |
PMID:6589021 |
RGD:11051848 |
NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316
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G |
GPX1 |
glutathione peroxidase 1 |
treatment |
ISO |
|
RGD |
PMID:17317918 PMID:24698347 |
RGD:11352774 RGD:11352812 |
NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
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G |
GSR |
glutathione-disulfide reductase |
|
ISO |
|
RGD |
PMID:24191316 |
RGD:11059506 |
NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
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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 chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
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G |
H1-2 |
H1.2 linker histone, cluster member |
susceptibility |
ISO |
DNA:SNP, haplotype:enhancer: (rs807212) (human) |
RGD |
PMID:19806355 |
RGD:10755490 |
NCBI chr35:24,009,304...24,011,602
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G |
HCK |
HCK proto-oncogene, Src family tyrosine kinase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17344919 |
|
NCBI chr24:21,473,424...21,513,673
Ensembl chr24:21,473,305...21,513,564
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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 2:68,901,339...68,936,473
Ensembl chr 2:68,901,651...68,936,186
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G |
HDAC2 |
histone deacetylase 2 |
disease_progression |
ISO |
mRNA:increased expression:bone marrow,blood: |
RGD |
PMID:23948281 |
RGD:9681454 |
NCBI chr12:70,053,822...70,083,491
Ensembl chr12:70,053,297...70,103,578
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|
G |
HDAC4 |
histone deacetylase 4 |
treatment |
ISO |
|
RGD |
PMID:23948281 |
RGD:9681454 |
NCBI chr25:49,318,621...49,545,314
Ensembl chr25:49,317,349...49,453,478
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G |
HFE |
homeostatic iron regulator |
no_association |
ISO |
DNA:missense mutation:cds:p.C282Y (human) DNA:missense mutation: :p.H63D (human) DNA:missense mutation:cds:p.H63D (human) |
RGD |
PMID:10627122 PMID:17107905 |
RGD:10755557 RGD:10755558 |
NCBI chr35:24,031,479...24,038,922
Ensembl chr35:24,031,387...24,042,413
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G |
HK1 |
hexokinase 1 |
|
ISO |
protein:decreased activity:platelet |
RGD |
PMID:21921332 |
RGD:11353881 |
NCBI chr 4:20,396,761...20,516,889
Ensembl chr 4:20,421,526...20,518,211
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G |
HLF |
HLF transcription factor, PAR bZIP family member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214592 |
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NCBI chr 9:30,321,090...30,380,480
Ensembl chr 9:30,327,495...30,377,175
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G |
HOXD4 |
homeobox D4 |
|
ISO |
ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to |
ClinVar |
PMID:15776434 |
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G |
IDH1 |
isocitrate dehydrogenase (NADP(+)) 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22674224 |
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NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219
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G |
IFNG |
interferon gamma |
susceptibility |
ISO |
DNA:SNP: :rs2069727(human) |
RGD |
PMID:21067287 |
RGD:10755691 |
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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G |
IKZF1 |
IKAROS family zinc finger 1 |
|
ISO |
ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2 |
ClinVar |
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NCBI chr18:1,661,851...1,750,987
Ensembl chr18:1,661,690...1,770,768
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G |
IKZF2 |
IKAROS family zinc finger 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
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NCBI chr37:20,508,647...20,662,549
Ensembl chr37:20,516,239...20,661,298
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G |
IKZF3 |
IKAROS family zinc finger 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
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NCBI chr 9:22,643,482...22,733,988
Ensembl chr 9:22,643,640...22,728,385
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G |
IL10 |
interleukin 10 |
treatment |
ISO |
protein:decreased expression:blood |
RGD |
PMID:15860861 PMID:21653647 |
RGD:11049158 RGD:11049169 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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G |
IRF4 |
interferon regulatory factor 4 |
|
ISO |
DNA:SNP:intron:rs12203592 (human) |
RGD |
PMID:19897031 |
RGD:11526162 |
NCBI chr35:760,367...782,314
Ensembl chr35:767,011...781,339
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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 |
RGD:10766474 |
NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163
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G |
KDM2B |
lysine demethylase 2B |
|
ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:21310926 |
RGD:9588255 |
NCBI chr26:7,625,857...7,746,049
Ensembl chr26:7,598,931...7,745,113
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G |
KDM3B |
lysine demethylase 3B |
|
ISO |
protein:increased expression:bone marrow, mononuclear cell (human) |
RGD |
PMID:22615488 |
RGD:9586728 |
NCBI chr11:25,954,352...26,024,919
Ensembl chr11:25,943,864...26,023,866
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G |
KDM6A |
lysine demethylase 6A |
severity |
ISO |
DNA:mutations:cds:multiple (human) |
RGD |
PMID:22377896 |
RGD:9684944 |
NCBI chr X:38,745,854...38,964,029
Ensembl chr X:38,745,854...38,959,842
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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 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971
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G |
KRAS |
KRAS proto-oncogene, GTPase |
disease_progression |
ISO |
|
RGD |
PMID:17910045 PMID:25917266 |
RGD:11060148 RGD:11060149 |
NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
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G |
LOC100683783 |
double homeobox protein 4C-like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27776115 |
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NCBI chr17:64,277,421...64,282,701
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G |
LOC486411 |
immunoglobulin iota chain-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214592 |
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NCBI chr26:28,833,763...28,834,870
Ensembl chr26:28,833,136...28,834,679
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G |
LOC609365 |
CD46 molecule, complement regulatory protein-like |
|
ISO |
protein:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:16353080 |
RGD:11352810 |
NCBI chr 7:6,602,762...6,646,561
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G |
MEFV |
MEFV innate immuity regulator, pyrin |
susceptibility |
ISO |
DNA:polymorphisms:cds:p.E148Q,M680I(human) |
RGD |
PMID:22942567 |
RGD:11531121 |
NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737
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G |
MTHFR |
methylenetetrahydrofolate reductase |
treatment disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutation:cds:677C>T (human) DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human) |
CTD RGD |
PMID:16706930 PMID:19923983 PMID:21644011 |
RGD:10449398 RGD:10449407 |
NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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G |
MTR |
5-methyltetrahydrofolate-homocysteine methyltransferase |
no_association disease_progression susceptibility |
ISO |
DNA:polymorphism: :2756A>G(human) DNA:SNP::rs10925235(human) DNA:polymorphism: :66A>G(human) |
RGD |
PMID:15159311 PMID:21618417 PMID:22453148 PMID:26605150 |
RGD:11531136 RGD:11531137 RGD:11531140 RGD:11531141 |
NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115
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G |
MTRR |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
susceptibility |
ISO |
DNA:SNP: :rs3776455(human) CTD Direct Evidence: marker/mechanism DNA:haplotype:cds: |
RGD CTD |
PMID:17136115 PMID:23940529 |
RGD:11531133 RGD:11531135 |
NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312
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G |
MYC |
MYC proto-oncogene, bHLH transcription factor |
disease_progression |
ISO |
|
RGD |
PMID:25784651 |
RGD:11532748 |
NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
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G |
NBN |
nibrin |
susceptibility |
ISO |
ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphoblastic, susceptibility to |
OMIM ClinVar |
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 More...
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NCBI chr29:35,416,093...35,477,569
Ensembl chr29:35,416,093...35,477,563
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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:20510681 PMID:23922896 |
RGD:11533639 RGD:11533646 |
NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
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G |
NQO1 |
NAD(P)H quinone dehydrogenase 1 |
|
ISO |
DNA:missense mutations: :p.R139W (465C>T), p.P187S (609C>T) (human) DNA:mutation: :609C>T (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:11774269 PMID:17332311 PMID:18444911 |
RGD:10769347 RGD:10769359 |
NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860
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G |
NRAS |
NRAS proto-oncogene, GTPase |
disease_progression |
ISO |
DNA:missense mutation:cds: |
RGD |
PMID:25204082 |
RGD:11535045 |
NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
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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 chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035
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G |
NT5C2 |
5'-nucleotidase, cytosolic II |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23377183 |
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NCBI chr28:15,525,581...15,621,287
Ensembl chr28:15,526,790...15,621,235
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G |
NUP214 |
nucleoporin 214 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr 9:52,840,300...52,943,785
Ensembl chr 9:52,841,096...52,947,770
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G |
P2RY8 |
P2Y receptor family member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19838194 |
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NCBI chr X:1,060,204...1,097,471
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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 chr29:28,207,445...28,340,812
Ensembl chr29:28,211,031...28,263,322
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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 |
OMIM ClinVar |
PMID:24013638 PMID:24728327 PMID:25741868 |
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NCBI chr11:53,194,905...53,390,204
Ensembl chr11:53,201,344...53,390,974
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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 chr14:20,565,620...20,600,774
Ensembl chr14:20,565,641...20,642,985
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G |
PRAME |
PRAME nuclear receptor transcriptional regulator |
severity |
ISO |
mRNA:increased expression:blood (human) |
RGD |
PMID:27275197 |
RGD:11535025 |
NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112
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G |
PRDM14 |
PR/SET domain 14 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19043588 |
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NCBI chr29:19,203,798...19,220,149
Ensembl chr29:19,203,807...19,220,518
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G |
RB1 |
RB transcriptional corepressor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
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NCBI chr22:3,061,621...3,204,625
Ensembl chr22:3,063,239...3,257,726
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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 chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
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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 chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094
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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 chr38:515,808...521,536
Ensembl chr38:515,860...521,535
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G |
TAL1 |
TAL bHLH transcription factor 1, erythroid differentiation factor |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr15:13,446,752...13,462,038
Ensembl chr15:13,449,481...13,462,047
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G |
TAL2 |
TAL bHLH transcription factor 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr11:61,425,927...61,484,525
Ensembl chr11:61,456,727...61,482,348
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G |
TCF3 |
transcription factor 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214592 |
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NCBI chr20:57,255,091...57,284,223
Ensembl chr20:57,254,384...57,283,981
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G |
TCN2 |
transcobalamin 2 |
|
ISO |
protein:altered activity:plasma: |
RGD |
PMID:8754152 |
RGD:11059889 |
NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832
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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:15621763 PMID:23066086 |
RGD:11038654 RGD:11038667 |
NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
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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 chr22:49,515,350...49,578,519
Ensembl chr22:49,515,382...49,577,905
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G |
TP53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23334668 |
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NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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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: :multiple DNA:SNPs:exon:374C>T, 719A>G (rs2842934, rs1142345) (human) |
RGD |
PMID:17164697 PMID:22009189 PMID:24499706 |
RGD:10766474 RGD:11038720 RGD:11038723 |
NCBI chr35:16,928,991...16,953,891
Ensembl chr35:16,929,240...16,953,229
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G |
TYMS |
thymidylate synthetase |
treatment |
ISO |
DNA:repeats: : rs347430033(human) |
RGD |
PMID:25007187 |
RGD:11080979 |
NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747
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G |
XRCC1 |
X-ray repair cross complementing 1 |
susceptibility no_association |
ISO |
DNA:missense mutation: :p.R194W (human) DNA:missense mutation, haplotype: :p.R399Q (human) DNA:missense mutation: :p.R399Q (human) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:19101034 PMID:21983886 |
RGD:11252110 RGD:11252192 |
NCBI chr 1:111,548,719...111,571,816
Ensembl chr 1:111,548,719...111,571,816
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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 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307
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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 chr X:780,924...801,961
Ensembl chr X:780,711...802,836
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G |
CYP2B6 |
cytochrome P450 2B11 |
susceptibility |
ISO |
DNA:polymorphism:G15631T |
RGD |
PMID:19144407 |
RGD:6480472 |
NCBI chr 1:112,817,561...112,833,294
Ensembl chr 1:112,816,502...112,833,293
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
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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 chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
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G |
IL7R |
interleukin 7 receptor |
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ISO |
ClinVar Annotator: match by term: Lymphoblastic leukemia, acute, with lymphomatous features |
ClinVar |
PMID:22897847 PMID:22955920 |
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NCBI chr 4:72,633,528...72,668,242
Ensembl chr 4:72,636,325...72,668,300
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G |
INSL6 |
insulin like 6 |
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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 1:93,457,854...93,474,777
Ensembl chr 1:93,459,945...93,474,793
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G |
JAK1 |
Janus kinase 1 |
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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 5:45,251,653...45,408,571
Ensembl chr 5:45,251,653...45,408,571
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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 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
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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:28492532 More...
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NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
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G |
ABCG2 |
ATP binding cassette subfamily G member 2 |
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ISO |
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RGD |
PMID:21640380 |
RGD:11081147 |
NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674
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G |
BIRC5 |
baculoviral IAP repeat containing 5 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16166298 |
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NCBI chr 9:2,930,308...2,959,307
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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 chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838
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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:41,991,321...41,998,319
Ensembl chr X:41,971,582...41,998,303
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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 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812
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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 |
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:28492532 More...
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NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
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G |
LOC102152446 |
coronin-7 |
|
ISO |
ClinVar Annotator: match by term: Acute megakaryoblastic leukemia |
ClinVar |
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NCBI chr 6:36,980,302...37,038,210
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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 chr12:6,655,586...6,716,619
Ensembl chr12:6,659,910...6,686,760
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G |
MRTFA |
myocardin related transcription factor A |
|
ISO |
|
RGD |
PMID:11431691 |
RGD:1599948 |
NCBI chr10:24,561,161...24,759,586
Ensembl chr10:24,561,161...24,759,081
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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:13,582...14,109
Ensembl chr MT:13,582...14,109
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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 chr21:16,006,022...16,028,369
Ensembl chr21:16,006,749...16,028,021
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G |
PRAME |
PRAME nuclear receptor transcriptional regulator |
|
ISO |
associated with Down Syndrome;mRNA:increased expression:mononuclear cell (human) |
RGD |
PMID:15180862 |
RGD:11535064 |
NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112
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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:26376867 PMID:28492532 PMID:29663862 More...
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NCBI chr26:37,853,148...37,913,176
Ensembl chr26:37,835,661...37,913,176
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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 chr20:46,733,072...46,743,657
Ensembl chr20:46,732,952...46,743,924
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G |
RUNX1 |
RUNX family transcription factor 1 |
onset |
ISO |
|
RGD |
PMID:15856017 |
RGD:11251701 |
NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
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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 chr10:40,334,417...40,394,438
Ensembl chr10:40,338,284...40,394,470
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G |
SNCB |
synuclein beta |
|
ISO |
|
RGD |
PMID:21264917 |
RGD:6478703 |
NCBI chr 4:36,710,236...36,719,455
Ensembl chr 4:36,616,039...36,764,501
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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 chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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G |
DNMT3A |
DNA methyltransferase 3 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21399634 |
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NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902
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G |
KMT2A |
lysine methyltransferase 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8282816 |
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NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971
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G |
MLLT10 |
MLLT10 histone lysine methyltransferase DOT1L cofactor |
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ISO |
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RGD |
PMID:7662954 |
RGD:1598771 |
NCBI chr 2:11,349,864...11,607,194
Ensembl chr 2:11,349,856...11,596,398
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G |
NF1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Acute monocytic leukemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
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G |
STK11 |
serine/threonine kinase 11 |
|
ISO |
ClinVar Annotator: match by term: Acute monocytic leukemia |
ClinVar |
PMID:25117502 PMID:25741868 PMID:25980754 PMID:26467025 PMID:28492532 |
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NCBI chr20:57,558,966...57,579,163
Ensembl chr20:57,559,424...57,579,118
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G |
ABCC3 |
ATP binding cassette subfamily C member 3 |
disease_progression |
ISO |
|
RGD |
PMID:26512967 |
RGD:11081145 |
NCBI chr 9:26,551,953...26,596,330
Ensembl chr 9:26,551,268...26,595,646
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G |
ABCG2 |
ATP binding cassette subfamily G member 2 |
treatment disease_progression |
ISO |
|
RGD |
PMID:12145683 PMID:26512967 |
RGD:11081145 RGD:11099971 |
NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674
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G |
ABL1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
|
ISO |
DNA:translocation: : |
RGD |
PMID:12161353 |
RGD:10450603 |
NCBI chr 9:53,118,462...53,262,092
Ensembl chr 9:53,119,641...53,261,307
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G |
ACSL6 |
acyl-CoA synthetase long chain family member 6 |
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ISO |
DNA:translocation: :t(5;12)(q31;p13) (human) |
RGD |
PMID:10502316 |
RGD:1599805 |
NCBI chr11:20,226,877...20,284,919
Ensembl chr11:20,227,268...20,285,631
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G |
ADCY7 |
adenylate cyclase 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr 2:65,003,891...65,034,812
Ensembl chr 2:65,006,038...65,034,777
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G |
AGRN |
agrin |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 5:56,239,621...56,273,679
Ensembl chr 5:56,239,701...56,272,745
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G |
ANAPC2 |
anaphase promoting complex subunit 2 |
|
ISO |
mRNA:increased expression:blood (human) |
RGD |
PMID:26046517 |
RGD:11067888 |
NCBI chr 9:48,475,777...48,486,715
Ensembl chr 9:48,471,584...48,609,303
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G |
ANXA2 |
annexin A2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr30:25,176,845...25,210,244
Ensembl chr30:25,115,842...25,218,281
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G |
ANXA4 |
annexin A4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr10:68,418,678...68,466,181
Ensembl chr10:68,431,056...68,466,174
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G |
ANXA5 |
annexin A5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr19:18,419,936...18,450,088
Ensembl chr19:18,407,587...18,570,378
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G |
ANXA6 |
annexin A6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 4:58,091,186...58,140,102
Ensembl chr 4:58,091,251...58,139,372
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G |
AQP9 |
aquaporin 9 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16968895 |
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NCBI chr30:23,223,413...23,271,893
Ensembl chr30:23,225,331...23,269,076
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G |
ASMTL |
acetylserotonin O-methyltransferase like |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr X:1,102,094...1,118,791
Ensembl chr X:1,100,747...1,118,791
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G |
ASXL1 |
ASXL transcriptional regulator 1 |
disease_progression |
ISO |
DNA:mutations:exon: |
RGD |
PMID:20693432 |
RGD:11038706 |
NCBI chr24:21,725,126...21,804,745
Ensembl chr24:21,661,059...21,802,815
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G |
ASXL2 |
ASXL transcriptional regulator 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27798625 |
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NCBI chr17:19,914,026...20,065,141
Ensembl chr17:19,895,568...20,044,691
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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 8:65,039,960...65,110,811
Ensembl chr 8:65,044,194...65,110,796
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G |
ATP1B1 |
ATPase Na+/K+ transporting subunit beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 7:29,464,132...29,487,124
Ensembl chr 7:29,464,132...29,487,947
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G |
BAALC |
BAALC binder of MAP3K1 and KLF4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19822134 |
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NCBI chr13:4,602,688...4,684,138
Ensembl chr13:4,603,020...4,682,189
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G |
BACH2 |
BTB domain and CNC homolog 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21441929 |
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NCBI chr12:49,101,621...49,375,415
Ensembl chr12:49,106,523...49,460,286
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G |
BCL2 |
BCL2 apoptosis regulator |
severity susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism ratio with Flt3, Kit;mRNA:decreased expression:mononuclear cell (human) DNA:snp:exon:c.+21A>G (rs1801018) (human) DNA:snp:promoter:g.-938C>A (human) |
CTD RGD |
PMID:19520430 PMID:23906301 PMID:25216797 PMID:25957891 |
RGD:11526107 RGD:11526109 RGD:11526111 |
NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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G |
BCL2L1 |
BCL2 like 1 |
severity |
ISO |
mRNA:increased expression:peripheral blood, bone marrow, blast cell (human) |
RGD |
PMID:11410409 |
RGD:11353851 |
NCBI chr24:21,145,214...21,209,425
Ensembl chr24:21,145,215...21,196,355
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G |
BDKRB1 |
bradykinin receptor B1 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
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NCBI chr 8:65,017,655...65,028,899
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G |
BDKRB2 |
bradykinin receptor B2 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
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NCBI chr 8:64,974,588...65,005,682
Ensembl chr 8:64,974,997...65,003,407
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G |
BMI1 |
BMI1 proto-oncogene, polycomb ring finger |
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ISO |
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RGD |
PMID:16105758 |
RGD:1580059 |
NCBI chr 2:10,818,232...10,828,473
Ensembl chr 2:10,818,232...10,833,613
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G |
BRD4 |
bromodomain containing 4 |
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ISO |
|
RGD |
PMID:21814200 |
RGD:9586350 |
NCBI chr20:46,844,795...46,927,620
Ensembl chr20:46,891,514...46,927,608
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G |
BRD7 |
bromodomain containing 7 |
susceptibility |
ISO |
DNA:haplotype:cds:737A>G,495C>T(human) mRNA:increased expression:bone marrow: |
RGD |
PMID:18772500 |
RGD:9586443 |
NCBI chr 2:64,966,636...65,002,800
Ensembl chr 2:64,966,392...65,002,799
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G |
BTG1 |
BTG anti-proliferation factor 1 |
disease_progression |
ISO |
|
RGD |
PMID:15449376 |
RGD:1549463 |
NCBI chr15:32,646,520...32,648,222
Ensembl chr15:32,647,472...32,647,762
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G |
C8H14orf132 |
chromosome 8 C14orf132 homolog |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
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NCBI chr 8:64,813,713...64,861,449
Ensembl chr 8:64,813,303...64,855,348
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G |
CALR |
calreticulin |
|
ISO |
mRNA:increased expression:peripheral blood (human) |
RGD |
PMID:26640226 |
RGD:11076986 |
NCBI chr20:49,251,390...49,255,291
Ensembl chr20:49,251,777...49,255,245
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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 chr17:39,619,429...39,640,944
Ensembl chr17:39,619,248...39,640,942
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G |
CAPN2 |
calpain 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 7:40,333,379...40,367,158
Ensembl chr 7:40,334,012...40,377,037
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G |
CASP7 |
caspase 7 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr28:24,599,866...24,630,018
Ensembl chr28:24,599,493...24,628,668
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G |
CBFB |
core-binding factor subunit beta |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 5:82,253,496...82,313,765
Ensembl chr 5:82,255,617...82,313,168
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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 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956
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G |
CCL2 |
C-C motif chemokine ligand 2 |
treatment |
ISO |
protein:increased expression:plasma (human) |
RGD |
PMID:17822317 PMID:25382729 |
RGD:11528532 RGD:11528537 |
NCBI chr 9:39,008,187...39,009,932
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G |
CCNA1 |
cyclin A1 |
|
ISO |
protein:increased expression:leukocyte (human) |
RGD |
PMID:10068680 |
RGD:2316304 |
NCBI chr25:4,189,457...4,198,170
Ensembl chr25:4,189,457...4,198,373
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G |
CCND1 |
cyclin D1 |
treatment |
ISO |
human tumor in a mouse model mRNA:increased expression:bone marrow (human) |
RGD |
PMID:21928377 PMID:22391157 |
RGD:11352824 RGD:11353789 |
NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005
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G |
CCND2 |
cyclin D2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27798625 |
|
NCBI chr27:40,563,306...40,593,362
Ensembl chr27:40,564,921...40,594,255
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G |
CD44 |
CD44 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23098472 |
|
NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107
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G |
CD86 |
CD86 molecule |
severity |
ISO |
protein:increased expression:mononuclear cell of bone marrow (human) |
RGD |
PMID:16115907 PMID:19197726 |
RGD:11354960 RGD:4892295 |
NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
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G |
CD9 |
CD9 molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
|
NCBI chr27:38,742,539...38,754,984
Ensembl chr27:38,742,963...38,774,576
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G |
CDH1 |
cadherin 1 |
disease_progression |
ISO |
DNA:hypermethylation:promoter: |
RGD |
PMID:15863205 |
RGD:11252161 |
NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
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G |
CDK6 |
cyclin dependent kinase 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
|
NCBI chr14:18,178,352...18,413,869
Ensembl chr14:18,188,429...18,419,869
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G |
CDKN1B |
cyclin dependent kinase inhibitor 1B |
|
ISO |
DNA:deletion: : |
RGD |
PMID:9171997 |
RGD:10450601 |
NCBI chr27:33,609,154...33,613,558
Ensembl chr27:33,611,760...33,612,906
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G |
CDKN2A |
cyclin dependent kinase inhibitor 2A |
disease_progression |
ISO |
mRNA,protein:altered expression:bone marrow: DNA:deletion: : |
RGD |
PMID:11064355 PMID:11697625 |
RGD:11251749 RGD:11252080 |
NCBI chr11:41,223,316...41,226,056
Ensembl chr11:41,223,315...41,264,379
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G |
CDKN2B |
cyclin dependent kinase inhibitor 2B |
susceptibility disease_progression treatment |
ISO |
DNA:hypermethylation: : DNA:deletion: : DNA:hypermethylation:promoter: mRNA:decreased expression:granulocyte,monocyte: |
RGD |
PMID:9001419 PMID:11064355 PMID:14681685 PMID:15863205 PMID:25616284 PMID:27168825 More...
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RGD:11251739 RGD:11251749 RGD:11252161 RGD:11252164 RGD:11252167 RGD:11252196 |
NCBI chr11:41,259,627...41,264,832
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G |
CEBPA |
CCAAT enhancer binding protein alpha |
|
ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia |
OMIM ClinVar |
PMID:11242107 PMID:12661007 PMID:12692518 PMID:14726504 PMID:15575056 PMID:15902292 PMID:18768433 PMID:18946494 PMID:19731081 PMID:21177436 PMID:23716546 PMID:23926458 PMID:24220272 PMID:24728327 PMID:25741868 PMID:26162409 PMID:26721895 PMID:27005833 PMID:28250006 PMID:28492532 PMID:29296967 PMID:31867767 PMID:32430494 PMID:33345654 More...
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NCBI chr 1:118,846,252...118,851,045
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G |
CEBPD |
CCAAT enhancer binding protein delta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17234736 |
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NCBI chr35:74,994...77,816
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G |
CFLAR |
CASP8 and FADD like apoptosis regulator |
disease_progression |
ISO |
|
RGD |
PMID:23167276 |
RGD:11341679 |
NCBI chr37:10,268,407...10,307,803
Ensembl chr37:10,268,582...10,345,095
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G |
CHI3L1 |
chitinase 3 like 1 |
severity |
ISO |
protein:increased secretion:serum (human) |
RGD |
PMID:16361549 |
RGD:4892644 |
NCBI chr 7:25,620...32,954
Ensembl chr 7:26,316...33,427
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G |
CHIC2 |
cysteine rich hydrophobic domain 2 |
|
ISO |
|
OMIM |
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NCBI chr13:46,558,657...46,606,226
Ensembl chr13:46,560,009...46,607,959
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G |
CHMP5 |
charged multivesicular body protein 5 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17708794 |
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NCBI chr11:50,363,488...50,376,081
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G |
CNR2 |
cannabinoid receptor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15039279 |
|
NCBI chr 2:75,640,636...75,662,000
Ensembl chr 2:75,658,999...75,660,126
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G |
CREBBP |
CREB binding protein |
|
ISO |
DNA:translocations:intron:IVS2 (human) |
RGD |
PMID:12461753 |
RGD:734819 |
NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
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G |
CSF1R |
colony stimulating factor 1 receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:1390197 |
|
NCBI chr 4:58,980,699...59,010,683
Ensembl chr 4:58,980,788...59,010,510
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G |
CSF2 |
colony stimulating factor 2 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:1826536 PMID:21441929 |
RGD:10449528 |
NCBI chr11:20,342,880...20,346,959
Ensembl chr11:20,344,648...20,346,959
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G |
CSF3 |
colony stimulating factor 3 |
treatment |
ISO |
CTD Direct Evidence: therapeutic |
RGD CTD |
PMID:7528855 PMID:10673519 |
RGD:11039033 |
NCBI chr 9:22,529,643...22,532,326
Ensembl chr 9:22,530,698...22,533,108
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G |
CSF3R |
colony stimulating factor 3 receptor |
susceptibility disease_progression |
ISO |
associated with Severe Congenital Neutropenia;DNA:nonsense mutation:cds: ClinVar Annotator: match by term: Acute myelogenous leukemia |
RGD ClinVar |
PMID:9001427 PMID:23604229 PMID:23634996 PMID:23656643 PMID:24081659 PMID:24403076 PMID:24614839 PMID:24746896 PMID:24854193 PMID:25491280 PMID:25741868 PMID:25932451 PMID:26875968 PMID:27148573 PMID:27581359 PMID:28209919 PMID:28219221 PMID:28492532 PMID:28762112 PMID:30967555 More...
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RGD:10450468 RGD:10450487 |
NCBI chr15:5,818,985...5,832,455
Ensembl chr15:5,822,025...5,831,882
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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 chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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G |
CTNNA1 |
catenin alpha 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091
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G |
CTSH |
cathepsin H |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 3:58,103,284...58,113,958
Ensembl chr 3:58,103,291...58,113,718
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G |
CTSZ |
cathepsin Z |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr24:43,743,291...43,750,154
Ensembl chr24:43,743,294...43,754,424
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G |
CXCR4 |
C-X-C motif chemokine receptor 4 |
treatment disease_progression |
ISO |
|
RGD |
PMID:24035716 PMID:26031918 |
RGD:11352265 RGD:11352273 |
NCBI chr19:38,874,650...38,877,740
Ensembl chr19:38,874,145...38,877,740
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G |
CYP1A1 |
cytochrome P450 family 1 subfamily A member 1 |
no_association disease_progression |
ISO |
DNA:SNP: :4889A>G (human) DNA:polymorphism: :6235T>C (human) DNA:SNP: :6235T>C (human) |
RGD |
PMID:15996939 PMID:19456854 |
RGD:10769358 RGD:11352736 |
NCBI chr30:37,793,277...37,799,535
Ensembl chr30:37,793,508...37,796,866
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G |
CYP2B6 |
cytochrome P450 2B11 |
susceptibility |
ISO |
DNA:polymorphism:G15631T |
RGD |
PMID:19144407 |
RGD:6480472 |
NCBI chr 1:112,817,561...112,833,294
Ensembl chr 1:112,816,502...112,833,293
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G |
CYP2D15 |
cytochrome P450 family 2 subfamily D member 15 |
susceptibility treatment |
ISO |
DNA:polymorphisms: : DNA:SNP: :(rs16947)(human) |
RGD |
PMID:11037802 PMID:21518482 |
RGD:11352820 RGD:11352828 |
NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298
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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 chr 1:72,278,939...72,448,907
Ensembl chr 1:72,280,103...72,447,822
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G |
DDX41 |
DEAD-box helicase 41 |
|
ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:25741868 PMID:25920683 PMID:26712909 PMID:28547672 PMID:30963592 PMID:33585199 More...
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NCBI chr 4:35,854,382...35,859,853
Ensembl chr 4:35,854,597...35,859,852
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G |
DHX15 |
DEAH-box helicase 15 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27798625 PMID:29163777 |
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NCBI chr 3:85,549,946...85,609,598
Ensembl chr 3:85,549,981...85,609,612
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G |
DLEC1 |
DLEC1 cilia and flagella associated protein |
treatment |
ISO |
DNA:hypermethylation:promoter: |
RGD |
PMID:27168825 |
RGD:11252164 |
NCBI chr23:7,813,305...7,889,322
Ensembl chr23:7,813,546...7,889,324
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G |
DNMT1 |
DNA methyltransferase 1 |
|
ISO |
mRNA:increased expression:CD34+ bone marrow cells |
RGD |
PMID:11222358 |
RGD:9588667 |
NCBI chr20:50,872,213...50,928,352
Ensembl chr20:50,879,527...50,928,029
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G |
DNMT3A |
DNA methyltransferase 3 alpha |
disease_progression treatment susceptibility |
ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia DNA:missense mutation:exon:p.R882 (human) DNA:mutation:: DNA:hypomethylation: : associated with Myelodysplastic Syndromes; DNA:mutations:cds: |
OMIM ClinVar RGD |
PMID:21067377 PMID:21415852 PMID:21518476 PMID:22160010 PMID:22722925 PMID:22744846 PMID:22898539 PMID:22898540 PMID:22898541 PMID:24512939 PMID:24606448 PMID:24622842 PMID:24656771 PMID:25609058 PMID:25741868 PMID:26242829 PMID:26619011 PMID:26876596 PMID:27991732 PMID:28166811 PMID:28432085 PMID:28492532 PMID:28941052 PMID:32581362 More...
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RGD:11041120 RGD:11041121 RGD:11041122 RGD:11041123 |
NCBI chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902
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G |
DNMT3B |
DNA methyltransferase 3 beta |
disease_progression susceptibility |
ISO |
DNA:SNP:promoter: C>T46359(human) mRNA:increased expression:CD34+ bone marrow cells DNA:SNPs,haplotype: :rs1569686,rs2424908, rs6087990, rs6119954(human) |
RGD |
PMID:11222358 PMID:16194411 PMID:23251566 PMID:24069326 |
RGD:9588667 RGD:9589071 RGD:9589103 RGD:9589108 |
NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
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G |
EHD3 |
EH domain containing 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr17:24,828,289...24,854,990
Ensembl chr17:24,828,372...24,853,400
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G |
EHMT2 |
euchromatic histone lysine methyltransferase 2 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:24532712 |
RGD:9589168 |
NCBI chr12:1,341,202...1,354,602
Ensembl chr12:1,341,191...1,354,584
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G |
EIF4EBP1 |
eukaryotic translation initiation factor 4E binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19458359 |
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NCBI chr16:27,389,850...27,410,154
Ensembl chr16:27,390,181...27,410,110
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G |
ENAH |
ENAH actin regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26237430 |
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NCBI chr 7:39,105,024...39,250,126
Ensembl chr 7:39,105,039...39,247,595
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G |
ENO2 |
enolase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr27:38,120,404...38,128,543
Ensembl chr27:38,119,413...38,129,182
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G |
EPHX1 |
epoxide hydrolase 1 |
no_association |
ISO |
DNA:SNPs:exon:rs1051740, rs2234922 (human) CTD Direct Evidence: marker/mechanism DNA:polymorphism DNA:missense mutations:exon:p.Y113H, p.H139R (human) |
RGD CTD |
PMID:11849215 PMID:20731606 PMID:22200898 PMID:29605894 |
RGD:11252114 RGD:11252115 RGD:11252119 |
NCBI chr 7:38,964,319...39,004,902
Ensembl chr 7:38,964,338...38,999,238
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G |
ERCC1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
no_association treatment |
ISO |
DNA:SNP: :p.Q504K (human) DNA:polymorphism: :p.R399Q (human) |
RGD |
PMID:16507781 PMID:18604718 PMID:20141440 PMID:21942242 PMID:23397959 |
RGD:11252170 RGD:11252171 RGD:11252173 RGD:11252179 RGD:11252193 |
NCBI chr 1:110,130,353...110,146,660
Ensembl chr 1:110,130,481...110,146,602
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G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
no_association disease_progression |
ISO |
associated with Myeloproliferative Disorders;DNA:polymorphism: :p.K751Q (rs13181) (human) DNA:SNPs, haplotypes: :p.D312N, p.K751Q (human) |
RGD |
PMID:20141440 PMID:21394217 PMID:22496165 PMID:23397959 |
RGD:11252173 RGD:11252193 RGD:11252198 RGD:11252209 |
NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
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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 chr31:33,456,902...33,562,704
Ensembl chr31:33,497,209...33,515,272
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G |
ETV6 |
ETS variant transcription factor 6 |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
OMIM ClinVar |
PMID:15806161 PMID:25581430 PMID:25741868 PMID:25807284 PMID:31248877 PMID:33226740 More...
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NCBI chr27:34,351,206...34,587,060
Ensembl chr27:34,343,390...34,587,060
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G |
EZH2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
susceptibility disease_progression |
ISO |
DNA:mutations:cds:multiple (human) mRNA:increased expression:bone marrow, mononuclear cell (human) |
RGD |
PMID:21125401 PMID:22677129 PMID:23099237 |
RGD:10450874 RGD:10450876 RGD:10450887 |
NCBI chr16:1,926,443...1,991,995
Ensembl chr16:1,925,956...1,991,838
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G |
F3 |
coagulation factor III, tissue factor |
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ISO |
|
RGD |
PMID:2617479 |
RGD:11340207 |
NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
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G |
FADD |
Fas associated via death domain |
disease_progression |
ISO |
|
RGD |
PMID:15520222 |
RGD:11341799 |
NCBI chr18:48,087,447...48,094,497
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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 chr 5:63,778,149...63,838,869
Ensembl chr 5:63,778,212...63,838,823
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G |
FANCC |
FA complementation group C |
susceptibility |
ISO |
DNA:polymorphism:cds:p.S26F (human) |
RGD |
PMID:12670332 |
RGD:11046259 |
NCBI chr 1:71,388,931...71,678,019
Ensembl chr 1:71,487,601...71,678,506
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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 |
RGD CTD |
PMID:7579353 PMID:8870373 PMID:12907599 |
RGD:11049150 RGD:11049452 |
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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G |
FERMT2 |
FERM domain containing kindlin 2 |
disease_progression |
ISO |
|
RGD |
PMID:22391155 |
RGD:11352307 |
NCBI chr 8:29,083,538...29,135,915
Ensembl chr 8:29,084,531...29,133,391
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G |
FERMT3 |
FERM domain containing kindlin 3 |
disease_progression |
ISO |
|
RGD |
PMID:22391155 |
RGD:11352307 |
NCBI chr18:52,833,954...52,851,775
Ensembl chr18:52,834,001...52,851,667
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
treatment |
ISO |
|
RGD |
PMID:22683780 PMID:23777766 PMID:27005999 |
RGD:11352310 RGD:11352665 RGD:11352670 |
NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
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G |
FHL2 |
four and a half LIM domains 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr10:37,997,912...38,065,633
Ensembl chr10:37,997,942...38,065,330
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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 DNA:mutations:cds: DNA:duplication mutation:cds: |
OMIM ClinVar 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:16642044 PMID:16857985 PMID:16990784 PMID:17047150 PMID:17387224 PMID:17606455 PMID:17889720 PMID:17942876 PMID:19602710 PMID:19657110 PMID:19840437 PMID:20733134 PMID:22368270 PMID:22504183 PMID:22504184 PMID:22504185 PMID:22504186 PMID:23261068 PMID:23321257 PMID:23430109 PMID:23714533 PMID:23783394 PMID:23878140 PMID:23969938 PMID:24046014 PMID:24619500 PMID:25157968 More...
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RGD:11049467 RGD:11049482 |
NCBI chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284
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G |
FOXO1 |
forkhead box O1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr25:603,433...706,961
Ensembl chr25:603,543...702,825
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G |
FXYD6 |
FXYD domain containing ion transport regulator 6 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 5:15,801,790...15,807,601
Ensembl chr 5:15,771,390...15,807,601
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G |
GAS2L1 |
growth arrest specific 2 like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr26:22,615,531...22,620,605
Ensembl chr26:22,615,319...22,621,311
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G |
GATA1 |
GATA binding protein 1 |
disease_progression |
ISO |
|
RGD |
PMID:7579412 |
RGD:10450754 |
NCBI chr X:41,991,321...41,998,319
Ensembl chr X:41,971,582...41,998,303
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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: Leukemia, acute myeloid, susceptibility to |
OMIM ClinVar RGD |
PMID:4508672 PMID:8701948 PMID:20040766 PMID:21242295 PMID:21670465 PMID:21765025 PMID:21810969 PMID:21892162 PMID:22147895 PMID:22271902 PMID:22533337 PMID:22786876 PMID:23223431 PMID:23365458 PMID:23502222 PMID:24077845 PMID:24227816 PMID:24345756 PMID:24728327 PMID:25239263 PMID:25241285 PMID:25359990 PMID:25676417 PMID:25741868 PMID:26264606 PMID:26492932 PMID:26702063 PMID:26748574 PMID:27266944 PMID:27288520 PMID:27577878 PMID:28104920 PMID:28166811 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:33363905 PMID:33417088 PMID:33510405 More...
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RGD:11049510 RGD:11049515 |
NCBI chr20:2,472,251...2,488,380
Ensembl chr20:2,473,912...2,480,991
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G |
GFI1 |
growth factor independent 1 transcriptional repressor |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism DNA:SNP:cds:c.107G>A(rs34631763)(human) |
CTD RGD |
PMID:17330099 PMID:20075157 |
RGD:11040450 |
NCBI chr 6:56,473,032...56,484,422
Ensembl chr 6:56,256,305...56,484,422
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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 9:51,380,697...51,394,679
Ensembl chr 9:51,380,696...51,392,812
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G |
GPATCH1 |
G-patch domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:119,009,605...119,052,676
Ensembl chr 1:119,009,609...119,053,140
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G |
GPI |
glucose-6-phosphate isomerase |
|
ISO |
protein:increased expression:plasma: |
RGD |
PMID:6589021 |
RGD:11051848 |
NCBI chr 1:117,922,380...117,948,325
Ensembl chr 1:117,922,635...117,948,316
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G |
GPX1 |
glutathione peroxidase 1 |
susceptibility disease_progression treatment |
ISO |
DNA:polymorphism: :p.P198L (human) DNA:SNP: :c.599C>T (rs1050450) (human) |
RGD |
PMID:22930375 PMID:26823947 PMID:26950655 |
RGD:11061561 RGD:11061784 RGD:11352817 |
NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260
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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 8:65,110,659...65,131,205
Ensembl chr 8:65,111,414...65,129,622
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G |
GSR |
glutathione-disulfide reductase |
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ISO |
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RGD |
PMID:24191316 |
RGD:11059506 |
NCBI chr16:33,633,949...33,680,411
Ensembl chr16:33,633,968...33,679,752
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G |
GSTP1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:polymorphism:cds:p.I105V(human) chemotherapy-induced; |
RGD |
PMID:11553769 PMID:11906705 PMID:21729529 |
RGD:10755328 RGD:10755420 RGD:10755422 |
NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
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G |
GTF2I |
general transcription factor IIi |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr 6:5,726,652...5,840,740
Ensembl chr 6:5,727,665...5,811,965
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G |
H1-0 |
H1.0 linker histone |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr10:26,827,748...26,829,909
Ensembl chr10:26,829,089...26,829,673
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G |
H1-2 |
H1.2 linker histone, cluster member |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr35:24,009,304...24,011,602
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G |
HGF |
hepatocyte growth factor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22683780 |
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NCBI chr18:21,329,688...21,410,257
Ensembl chr18:21,332,817...21,410,263
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G |
HMOX1 |
heme oxygenase 1 |
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ISO |
mRNA:increased expression:brain, spleen |
RGD |
PMID:19268504 |
RGD:10755700 |
NCBI chr10:28,744,404...28,751,544
Ensembl chr10:28,743,795...28,751,773
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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 chr14:40,336,829...40,340,533
Ensembl chr14:40,337,999...40,339,923
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G |
HRAS |
HRas proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
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: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: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:25914166 PMID:26619011 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:34008892 PMID:168335863 More...
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NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
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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 chr 6:7,487,164...7,488,576
Ensembl chr 6:7,487,250...7,488,576
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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 chr17:5,956,924...5,958,833
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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 myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia DNA:SNP::105C>T (rs11554137)(human) |
RGD ClinVar |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20368543 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:27993330 PMID:29950729 More...
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RGD:11522718 RGD:11522721 |
NCBI chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219
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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 myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia DNA:mutation:cds:p.R140 (human) |
RGD ClinVar |
PMID:20171147 PMID:20368543 PMID:20847235 PMID:20946881 PMID:21250968 PMID:21596855 PMID:21889589 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24606448 PMID:25157968 PMID:25324972 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 More...
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RGD:11522718 RGD:11522721 |
NCBI chr 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496
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G |
IFI30 |
IFI30 lysosomal thiol reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr20:44,819,862...44,823,261
Ensembl chr20:44,819,893...44,823,342
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G |
IL10 |
interleukin 10 |
disease_progression |
ISO |
|
RGD |
PMID:23357299 |
RGD:11046264 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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G |
IL1A |
interleukin 1 alpha |
treatment |
ISO |
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RGD |
PMID:2460157 |
RGD:11051965 |
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
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G |
IL4R |
interleukin 4 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11918534 |
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NCBI chr 6:19,254,183...19,280,973
Ensembl chr 6:19,254,487...19,389,291
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G |
IL6 |
interleukin 6 |
treatment disease_progression |
ISO |
human protein in a rat model |
RGD |
PMID:8892684 PMID:23357299 |
RGD:11046264 RGD:11062010 |
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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G |
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 chr19:826,711...1,192,340
Ensembl chr19:850,784...1,186,498
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G |
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 |
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 1:93,457,854...93,474,777
Ensembl chr 1:93,459,945...93,474,793
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G |
ITGAV |
integrin subunit alpha V |
treatment |
ISO |
|
RGD |
PMID:23770013 |
RGD:10755448 |
NCBI chr36:28,815,215...28,890,569
Ensembl chr36:28,804,013...28,887,430
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G |
ITGB3 |
integrin subunit beta 3 |
treatment |
ISO |
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RGD |
PMID:23770013 |
RGD:10755448 |
NCBI chr 9:9,179,667...9,231,061
Ensembl chr 9:9,182,562...9,231,451
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G |
JAK1 |
Janus kinase 1 |
|
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 5:45,251,653...45,408,571
Ensembl chr 5:45,251,653...45,408,571
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G |
JAK2 |
Janus kinase 2 |
|
ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia |
OMIM ClinVar |
PMID:15781101 PMID:15793561 PMID:15858187 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 1:93,321,055...93,438,898
Ensembl chr 1:93,142,635...93,435,997
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G |
KAT6A |
lysine acetyltransferase 6A |
|
ISO |
human gene in a mouse model;DNA:translocation:exon |
RGD |
PMID:12676584 |
RGD:9590334 |
NCBI chr16:23,604,629...23,717,047
Ensembl chr16:23,604,200...23,724,252
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G |
KIT |
KIT proto-oncogene, receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia |
OMIM ClinVar |
PMID:7479840 PMID:7513208 PMID:7691885 PMID:8589724 PMID:9657776 PMID:9827716 PMID:9990072 PMID:11380399 PMID:11493470 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: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 More...
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NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
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G |
KLF1 |
Kruppel like factor 1 |
disease_progression |
ISO |
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RGD |
PMID:19097174 |
RGD:10769344 |
NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602
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G |
KMT2A |
lysine methyltransferase 2A |
|
ISO |
DNA:rearrangements CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8361504 PMID:10339604 PMID:26237430 |
RGD:1625285 |
NCBI chr 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971
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G |
KMT2B |
lysine methyltransferase 2B |
susceptibility |
ISO |
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RGD |
PMID:25079327 |
RGD:9588599 |
NCBI chr 1:116,894,024...116,913,464
Ensembl chr 1:116,893,074...116,913,472
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G |
KMT2C |
lysine methyltransferase 2C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24794707 |
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NCBI chr16:15,962,045...16,117,601
Ensembl chr16:15,963,901...16,158,408
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G |
KRAS |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia |
OMIM ClinVar |
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 PMID:8439212 PMID:8955068 PMID:12460918 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 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:20805368 PMID:20921462 PMID:20921465 PMID:20949522 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:23325582 PMID:23406027 PMID:24033266 PMID:24558511 PMID:24720724 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26372703 PMID:26619011 PMID:26623049 PMID:28492532 PMID:29298116 PMID:30443000 PMID:31891627 PMID:32581362 More...
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NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
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G |
LOC100686511 |
myeloid cell surface antigen CD33 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12921496 |
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NCBI chr 1:105,722,187...105,731,616
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G |
LOC478670 |
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 chr34:20,538,580...21,157,978
Ensembl chr34:20,632,193...21,142,914
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G |
LOC607874 |
cystatin-C-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr23:49,562...53,618
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G |
LPAR1 |
lysophosphatidic acid receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr11:65,690,806...65,822,166
Ensembl chr11:65,692,973...65,822,312
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G |
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 1:118,924,195...118,934,687
Ensembl chr 1:118,926,861...118,929,769
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G |
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 |
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: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: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:25914166 PMID:26619011 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31394527 PMID:31775759 PMID:34008892 PMID:168335863 More...
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NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
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G |
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 chr20:49,109,358...49,113,911
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G |
MDM2 |
MDM2 proto-oncogene |
disease_progression |
ISO |
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RGD |
PMID:11064355 |
RGD:11251749 |
NCBI chr10:10,936,288...10,963,118
Ensembl chr10:10,893,719...10,962,596
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G |
MECOM |
MDS1 and EVI1 complex locus |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30472098 |
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NCBI chr34:33,747,495...34,299,389
Ensembl chr34:33,748,843...34,299,276
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G |
MEFV |
MEFV innate immuity regulator, pyrin |
susceptibility |
ISO |
DNA:polymorphisms:cds:p.M694V,E148Q(human) |
RGD |
PMID:22351163 |
RGD:11531114 |
NCBI chr 6:37,964,776...37,984,830
Ensembl chr 6:37,970,608...37,983,737
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G |
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 chr14:55,599,047...55,711,626
Ensembl chr14:55,598,337...55,724,027
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G |
MIR155 |
microRNA mir-155 |
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ISO |
miRNA:increased expression:blood miRNA:decreased expression:peripheral blood mononuclear cell |
RGD |
PMID:26923190 PMID:28989535 |
RGD:24922214 RGD:25671477 |
NCBI chr31:21,078,768...21,078,828
Ensembl chr31:21,078,758...21,078,833
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G |
MLLT10 |
MLLT10 histone lysine methyltransferase DOT1L cofactor |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr 2:11,349,864...11,607,194
Ensembl chr 2:11,349,856...11,596,398
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G |
MN1 |
MN1 proto-oncogene, transcriptional regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19822134 |
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NCBI chr26:21,216,912...21,261,518
Ensembl chr26:21,216,837...21,261,031
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G |
MTHFR |
methylenetetrahydrofolate reductase |
|
ISO |
DNA:SNPs: :677C>T, 1298A>C(human) |
RGD |
PMID:17156840 |
RGD:10449408 |
NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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G |
MTRR |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
susceptibility |
ISO |
DNA:polymorphism: :66A>G(human) |
RGD |
PMID:18774170 |
RGD:11075096 |
NCBI chr34:6,068,572...6,119,580
Ensembl chr34:6,070,046...6,098,312
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G |
MX1 |
MX dynamin like GTPase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr31:35,898,206...35,929,802
Ensembl chr31:35,860,590...35,951,350
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G |
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 chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
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G |
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 chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184
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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 chr29:19,253,849...19,471,640
Ensembl chr29:19,222,842...19,545,371
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G |
NECTIN2 |
nectin cell adhesion molecule 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:29855615 |
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NCBI chr 1:110,543,140...110,569,168
Ensembl chr 1:110,543,247...110,569,143
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G |
NF1 |
neurofibromin 1 |
disease_progression severity |
ISO |
CTD Direct Evidence: marker/mechanism DNA:deletion: : |
CTD RGD |
PMID:12518368 PMID:21441929 PMID:23460398 PMID:25822087 |
RGD:12754447 RGD:12789444 |
NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
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G |
NOS3 |
nitric oxide synthase 3 |
disease_progression |
ISO |
DNA:polymorphgism: : 894 G>T(human) |
RGD |
PMID:24684492 |
RGD:11533640 |
NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277
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G |
NPM1 |
nucleophosmin 1 |
disease_progression onset |
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia DNA:mutation:exon: |
OMIM ClinVar RGD |
PMID:15659725 PMID:17957027 PMID:19657110 PMID:20026798 PMID:21441929 PMID:25992555 PMID:32581362 More...
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RGD:11049474 RGD:11070453 RGD:11534990 |
NCBI chr 4:40,756,464...40,770,174
Ensembl chr 4:40,756,465...40,770,175
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G |
NQO1 |
NAD(P)H quinone dehydrogenase 1 |
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ISO |
DNA:SNP: :609C>T (human) |
RGD |
PMID:19456854 |
RGD:10769358 |
NCBI chr 5:79,979,593...79,990,875
Ensembl chr 5:79,978,865...79,989,860
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G |
NRAS |
NRAS proto-oncogene, GTPase |
disease_progression |
ISO |
DNA:missense mutation:cds: ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia |
RGD ClinVar |
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: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:25204082 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:30417923 PMID:32888943 More...
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RGD:11070616 RGD:11535045 |
NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
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G |
NSD1 |
nuclear receptor binding SET domain protein 1 |
severity |
ISO |
DNA:translocations:multiple (human) ClinVar Annotator: match by term: Acute myeloid leukemia |
RGD ClinVar |
PMID:12807965 PMID:15942875 PMID:17565729 PMID:23190751 PMID:23630019 PMID:25741868 PMID:28492532 More...
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RGD:9590149 |
NCBI chr 4:36,058,351...36,214,254
Ensembl chr 4:36,063,134...36,210,999
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G |
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 3:51,131,470...51,491,112
Ensembl chr 3:51,138,751...51,513,024
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G |
NUP214 |
nucleoporin 214 |
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ISO |
|
OMIM |
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NCBI chr 9:52,840,300...52,943,785
Ensembl chr 9:52,841,096...52,947,770
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G |
NUP98 |
nucleoporin 98 and 96 precursor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21441929 |
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NCBI chr21:26,231,585...26,348,019
Ensembl chr21:26,220,963...26,336,020
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G |
PDCD1 |
programmed cell death 1 |
treatment |
ISO |
|
RGD |
PMID:26712908 |
RGD:41410789 |
NCBI chr25:51,606,559...51,618,903
Ensembl chr25:51,608,173...51,618,723
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G |
PDE4B |
phosphodiesterase 4B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 5:44,063,145...44,606,070
Ensembl chr 5:44,065,106...44,500,999
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G |
PICALM |
phosphatidylinositol binding clathrin assembly protein |
susceptibility |
ISO |
DNA:inversion: :inv(11)(q14q23) |
OMIM RGD |
PMID:12461747 |
RGD:1600760 |
NCBI chr21:13,437,819...13,540,167
Ensembl chr21:13,437,925...13,539,616
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G |
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:42,072,495...42,077,741
Ensembl chr X:42,073,457...42,077,543
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G |
PLCB1 |
phospholipase C beta 1 |
severity |
ISO |
mRNA:increased expression:blood (human) |
RGD |
PMID:20516454 |
RGD:11535940 |
NCBI chr24:13,337,285...13,996,218
Ensembl chr24:13,322,296...13,995,539
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G |
POU4F1 |
POU class 4 homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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NCBI chr22:31,992,657...31,997,066
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G |
PRAME |
PRAME nuclear receptor transcriptional regulator |
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ISO |
mRNA:increased expression:bone marrow, mononuclear cell (human) |
RGD |
PMID:20376794 |
RGD:11535023 |
NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112
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G |
PSIP1 |
PC4 and SFRS1 interacting protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr11:35,746,064...35,788,473
Ensembl chr11:35,747,341...35,789,110
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G |
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 chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia |
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:28098151 PMID:30868567 More...
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NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
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G |
PVR |
PVR cell adhesion molecule |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:29855615 |
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NCBI chr 1:110,692,906...110,713,209
Ensembl chr 1:110,697,911...110,754,296
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G |
PXDN |
peroxidasin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr17:834,625...891,551
Ensembl chr17:836,434...875,117
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G |
RASGRP1 |
RAS guanyl releasing protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21441929 |
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NCBI chr30:5,840,901...5,914,804
Ensembl chr30:5,841,738...5,914,810
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G |
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 chr38:6,200,237...6,203,491
Ensembl chr38:6,200,657...6,203,494
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G |
RHPN2 |
rhophilin Rho GTPase binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:119,061,637...119,119,470
Ensembl chr 1:119,061,562...119,119,468
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G |
RTEL1 |
regulator of telomere elongation helicase 1 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:25741868 |
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NCBI chr24:47,219,977...47,248,791
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G |
RUNX1 |
RUNX family transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, m0 subtype |
OMIM ClinVar |
PMID:10068652 PMID:10508512 PMID:11276260 PMID:12200707 PMID:12377125 PMID:12393679 PMID:12807882 PMID:15156185 PMID:17234761 PMID:19357396 PMID:19387465 PMID:19808697 PMID:20549580 PMID:20722699 PMID:20880108 PMID:22012064 PMID:23817177 PMID:24374719 PMID:24523240 PMID:24616160 PMID:24659740 PMID:24764152 PMID:24904105 PMID:25741868 PMID:25840971 PMID:27294619 PMID:28231333 PMID:28492532 PMID:28513614 PMID:29365323 PMID:31064749 PMID:32098966 PMID:34355501 More...
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NCBI chr31:30,170,859...30,420,344
Ensembl chr31:30,170,605...30,420,839
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G |
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 chr29:37,156,861...37,289,934
Ensembl chr29:37,158,659...37,297,879
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G |
RUNX3 |
RUNX family transcription factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18206229 |
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G |
S100A10 |
S100 calcium binding protein A10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr17:60,984,138...60,994,915
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G |
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 7:43,540,667...43,541,604
Ensembl chr 7:43,501,989...43,541,604
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G |
SAMHD1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
severity |
ISO |
human cell line in mouse model |
RGD |
PMID:30474474 |
RGD:149735523 |
NCBI chr24:25,623,997...25,676,336
Ensembl chr24:25,626,134...25,680,902
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G |
SEPTIN9 |
septin 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10339604 |
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NCBI chr 9:3,495,764...3,571,755
Ensembl chr 9:3,448,793...3,616,732
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G |
SF3B1 |
splicing factor 3b subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:21909114 PMID:21995386 PMID:23395771 PMID:23634996 PMID:26619011 |
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NCBI chr37:6,922,150...6,962,474
Ensembl chr37:6,924,047...6,962,896
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G |
SF3B2 |
splicing factor 3b subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:26619011 |
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NCBI chr18:51,197,924...51,212,397
Ensembl chr18:51,197,939...51,212,354
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G |
SGK1 |
serum/glucocorticoid regulated kinase 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 1:27,086,431...27,196,601
Ensembl chr 1:27,087,361...27,196,521
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G |
SH3GL1 |
SH3 domain containing GRB2 like 1, endophilin A2 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
OMIM ClinVar |
PMID:25741868 |
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NCBI chr20:55,279,622...55,311,579
Ensembl chr20:55,279,621...55,311,536
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G |
SLC7A10 |
solute carrier family 7 member 10 |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:28492532 |
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NCBI chr 1:118,908,087...118,923,034
Ensembl chr 1:118,907,184...118,923,215
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G |
SOCS1 |
suppressor of cytokine signaling 1 |
|
ISO |
DNA:hypermethylation: : |
RGD |
PMID:12759928 |
RGD:150573811 |
NCBI chr 6:31,511,003...31,511,995
Ensembl chr 6:31,509,268...31,511,557
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G |
SOD2 |
superoxide dismutase 2 |
disease_progression |
ISO |
protein:increased expression:serum |
RGD |
PMID:1596865 PMID:16769586 |
RGD:11035286 RGD:11035289 |
NCBI chr 1:48,943,472...48,955,158
Ensembl chr 1:48,836,262...48,955,706
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G |
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 chr 4:57,659,541...57,682,147
Ensembl chr 4:57,659,650...57,681,711
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G |
SPI1 |
Spi-1 proto-oncogene |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26237430 |
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NCBI chr18:42,253,849...42,269,497
Ensembl chr18:42,253,811...42,269,727
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G |
SPRY4 |
sprouty RTK signaling antagonist 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25822087 |
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NCBI chr 2:37,199,890...37,213,710
Ensembl chr 2:37,203,609...37,208,858
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G |
SRSF2 |
serine and arginine rich splicing factor 2 |
severity |
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:22431577 |
RGD:11039017 |
NCBI chr 9:4,028,414...4,032,371
Ensembl chr 9:4,028,482...4,030,793
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G |
SRSF4 |
serine and arginine rich splicing factor 4 |
|
ISO |
mRNA:decreased expression: (human) |
RGD |
PMID:22722453 |
RGD:11039059 |
NCBI chr 2:71,418,626...71,434,140
Ensembl chr 2:71,394,037...71,471,997
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G |
STAT3 |
signal transducer and activator of transcription 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19796711 |
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NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
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G |
SVIL |
supervillin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr 2:16,004,160...16,234,434
Ensembl chr 2:16,004,951...16,174,218
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G |
SYNGR1 |
synaptogyrin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr10:25,685,079...25,735,940
Ensembl chr10:25,687,633...25,713,300
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G |
TCEA2 |
transcription elongation factor A2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr24:47,508,161...47,512,399
Ensembl chr24:47,508,136...47,537,250
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G |
TCL1A |
TCL1 family AKT coactivator A |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
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G |
TCN2 |
transcobalamin 2 |
|
ISO |
protein:increased expression:: |
RGD |
PMID:1059479 |
RGD:11060122 |
NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832
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G |
TEK |
TEK receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:19340004 PMID:28492532 |
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NCBI chr11:45,278,375...45,377,300
Ensembl chr11:45,278,891...45,409,093
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G |
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 |
OMIM ClinVar RGD |
PMID:15814878 PMID:17460043 PMID:18042801 PMID:18460650 PMID:18753630 PMID:18931339 PMID:19147845 PMID:19760749 PMID:19796246 PMID:20966039 PMID:21258621 PMID:21520173 PMID:21635204 PMID:22476886 PMID:23538340 PMID:23826993 PMID:23901009 PMID:24033266 PMID:24983628 PMID:25108601 PMID:25741868 PMID:26859482 PMID:28154186 PMID:28492532 More...
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RGD:11038655 |
NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
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G |
TET2 |
tet methylcytosine dioxygenase 2 |
disease_progression |
ISO |
DNA:deletions |
RGD |
PMID:23389918 PMID:25200248 |
RGD:11038681 RGD:11038682 |
NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536
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G |
TFPI2 |
tissue factor pathway inhibitor 2 |
|
ISO |
DNA:hypermethylation:promoter: |
RGD |
PMID:22052167 |
RGD:11060127 |
NCBI chr14:19,399,259...19,403,890
Ensembl chr14:19,399,720...19,403,708
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G |
TFR2 |
transferrin receptor 2 |
disease_progression |
ISO |
|
RGD |
PMID:15015967 |
RGD:11062090 |
NCBI chr 6:9,059,501...9,076,646
Ensembl chr 6:9,060,629...9,076,158
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G |
TGM6 |
transglutaminase 6 |
|
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 chr24:18,698,016...18,721,975
Ensembl chr24:18,700,099...18,721,930
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G |
TMEM127 |
transmembrane protein 127 |
|
ISO |
ClinVar Annotator: match by term: Acute myelogenous leukemia |
ClinVar |
PMID:20923864 PMID:25741868 PMID:28492532 |
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NCBI chr17:34,512,753...34,527,208
Ensembl chr17:34,512,792...34,523,692
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G |
TNFSF10 |
TNF superfamily member 10 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12780785 |
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NCBI chr34:36,719,249...36,734,989
Ensembl chr34:36,670,849...36,735,060
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G |
TNFSF8 |
TNF superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9058727 PMID:10512160 PMID:11918534 |
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NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
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G |
TNFSF9 |
TNF superfamily member 9 |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:11564827 |
RGD:2317350 |
NCBI chr20:53,680,882...53,682,521
Ensembl chr20:53,679,880...53,682,706
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G |
TP53 |
tumor protein p53 |
treatment disease_progression |
ISO |
DNA:mutations: : ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia DNA:mutation: : |
RGD ClinVar |
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 PMID:1631151 PMID:1683921 PMID:1978757 PMID:2046748 PMID:2113594 PMID:2826609 PMID:7732013 PMID:7887414 PMID:7969167 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:9047394 PMID:9049183 PMID:9242456 PMID:9290701 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9662334 PMID:9825943 PMID:10411893 PMID:10432928 PMID:10589545 PMID:10616528 PMID:10797439 PMID:10864200 PMID:10914716 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11315715 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11494139 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12124823 PMID:12509279 PMID:12672316 PMID:12700230 PMID:12726864 PMID:12792784 PMID:12826609 PMID:12917626 PMID:14559903 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15580553 PMID:15607980 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15951970 PMID:15977174 PMID:16209708 PMID:16288208 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16633321 PMID:16682957 PMID:16778209 PMID:16818505 PMID:16861262 PMID:17015838 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17567834 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:18307025 PMID:18511570 PMID:18555592 PMID:18685109 PMID:19101993 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19462533 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20308654 PMID:20407015 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20805372 PMID:21056685 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:21761402 PMID:22090360 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22265402 PMID:22427690 PMID:22540896 PMID:22713868 PMID:22811390 PMID:22862161 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22999923 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23265383 PMID:23315175 PMID:23334668 PMID:23538418 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24256616 PMID:24381225 PMID:24395441 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:24836762 PMID:25157968 PMID:25339994 PMID:25412846 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25573287 PMID:25584008 PMID:25587027 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26230955 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:27374712 PMID:27463065 PMID:27501770 PMID:27533082 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27959731 PMID:28135145 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28476805 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:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30311369 PMID:30318520 PMID:30327374 PMID:30352134 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31121848 PMID:31206626 PMID:31300551 PMID:31775759 PMID:32000721 PMID:32295079 More...
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RGD:11057925 RGD:11073714 RGD:11075071 |
NCBI chr 5:32,561,406...32,565,149
Ensembl chr 5:32,560,598...32,574,109
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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 chr20:5,219,495...5,222,914
Ensembl chr20:5,219,594...5,222,866
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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 chr34:271,572...505,656
Ensembl chr34:272,290...505,636
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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:28492532 |
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NCBI chr 9:51,409,307...51,459,546
Ensembl chr 9:51,425,937...51,454,677
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TSC2 |
TSC complex subunit 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19250671 |
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NCBI chr 6:38,865,509...38,898,977
Ensembl chr 6:38,865,507...38,898,960
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TUBB2A |
tubulin beta 2A class IIa |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr35:3,448,402...3,450,783
Ensembl chr35:3,448,435...3,452,091
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TYMS |
thymidylate synthetase |
susceptibility |
ISO |
DNA:repeats,insertion/deletion:5'UTR, 3'UTR: |
RGD |
PMID:18774170 |
RGD:11075096 |
NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747
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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 chr31:37,263,265...37,276,710
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VEGFA |
vascular endothelial growth factor A |
disease_progression |
ISO |
DNA:SNP,haplotype: :(rs3025039),(rs699947),(rs833061)(human) |
RGD |
PMID:17983459 |
RGD:13432134 |
NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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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 chr18:6,282,050...6,387,687
Ensembl chr18:6,282,426...6,386,703
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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:50,839,979...50,881,684
Ensembl chr X:50,803,330...50,881,618
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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 1:118,962,602...119,007,836
Ensembl chr 1:118,962,605...119,007,759
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WT1 |
WT1 transcription factor |
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ISO |
ClinVar Annotator: match by term: Acute myeloid leukemia |
ClinVar |
PMID:24374862 PMID:24422723 PMID:24521058 PMID:24659740 PMID:24667279 PMID:24671364 PMID:25741868 More...
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NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
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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 chr20:55,517,531...55,527,071
Ensembl chr20:55,505,916...55,523,736
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ZFP91 |
ZFP91 zinc finger protein, atypical E3 ubiquitin ligase |
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ISO |
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RGD |
PMID:12738986 |
RGD:727221 |
NCBI chr18:37,762,200...37,809,070
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ZRSR2 |
zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 |
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ISO |
associated with aging DNA:missense mutations:multiple (human) |
RGD |
PMID:25550361 PMID:32027246 |
RGD:151232299 RGD:151347178 |
NCBI chr X:12,046,163...12,073,617
Ensembl chr X:12,046,921...12,073,440
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ARHGAP26 |
Rho GTPase activating protein 26 |
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ISO |
juvenile myelomonocytic leukemia, OMIM:607785 translocation t(5;11)(q31;q23) fusing ARHGAP26 to MLL in one allele and point mutation A1255G/Asn417Ser or one of two insertions in second allele |
RGD |
PMID:10908648 |
RGD:1599311 |
NCBI chr 2:37,627,448...38,045,589
Ensembl chr 2:37,626,698...38,040,079
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CBFB |
core-binding factor subunit beta |
susceptibility |
ISO |
DNA:inversion: :inv(16)(p13q22) CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8351518 PMID:10958941 |
RGD:1599543 |
NCBI chr 5:82,253,496...82,313,765
Ensembl chr 5:82,255,617...82,313,168
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CDKN2B |
cyclin dependent kinase inhibitor 2B |
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ISO |
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RGD |
PMID:14681685 |
RGD:11252167 |
NCBI chr11:41,259,627...41,264,832
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FLT3 |
fms related receptor tyrosine kinase 3 |
treatment |
ISO |
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RGD |
PMID:22187040 |
RGD:11049503 |
NCBI chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284
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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 chr23:49,569,571...49,645,999
Ensembl chr23:49,569,531...49,699,199
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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 5:15,212,559...15,302,825
Ensembl chr 5:15,217,348...15,270,971
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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 chr 6:28,041,330...28,157,277
Ensembl chr 6:28,041,318...28,262,184
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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 chr11:60,761,669...60,869,753
Ensembl chr11:60,761,655...60,890,496
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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 8:72,317,399...72,335,686
Ensembl chr 8:72,317,869...72,335,193
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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 chr30:23,223,413...23,271,893
Ensembl chr30:23,225,331...23,269,076
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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 chr24:21,725,126...21,804,745
Ensembl chr24:21,661,059...21,802,815
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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 chr 9:2,930,308...2,959,307
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CD44 |
CD44 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism|therapeutic |
CTD |
PMID:16208414 PMID:17349212 |
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NCBI chr18:32,735,493...32,826,483
Ensembl chr18:32,737,907...32,827,107
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CDKN2B |
cyclin dependent kinase inhibitor 2B |
disease_progression |
ISO |
DNA:hyprmethylation:promoter: |
RGD |
PMID:12750706 |
RGD:11252187 |
NCBI chr11:41,259,627...41,264,832
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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 1:118,846,252...118,851,045
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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 chr 8:3,423,046...3,425,595
Ensembl chr 8:3,423,040...3,425,217
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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 chr30:28,440,616...28,565,089
Ensembl chr30:28,441,161...28,565,566
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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 chr18:47,257,750...47,277,436
Ensembl chr18:47,261,730...47,274,236
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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 chr17:19,489,524...19,563,074
Ensembl chr17:19,492,193...19,563,902
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F3 |
coagulation factor III, tissue factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:10726043 PMID:16206674 |
RGD:11340216 |
NCBI chr 6:54,709,581...54,720,603
Ensembl chr 6:54,708,471...54,720,607
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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 chr25:11,551,372...11,670,891
Ensembl chr25:11,581,206...11,692,284
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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 chr34:36,373,966...36,640,851
Ensembl chr34:36,302,386...36,637,583
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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 chr10:1,565,306...1,575,971
Ensembl chr10:1,565,244...1,575,982
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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 chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658
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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 8:40,585,625...41,204,007
Ensembl chr 8:40,585,883...41,203,245
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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 chr37:16,512,027...16,531,269
Ensembl chr37:16,512,770...16,531,219
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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 3:53,070,462...53,077,566
Ensembl chr 3:53,070,695...53,087,496
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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 chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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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 chr12:19,854,129...19,862,521
Ensembl chr12:19,854,129...19,862,513
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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 chr 4:5,242,225...5,249,371
Ensembl chr 4:5,244,869...5,247,247
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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 6:17,605,611...17,645,134
Ensembl chr 6:17,605,760...17,644,986
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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 6:16,944,062...16,996,525
Ensembl chr 6:16,808,971...16,996,286
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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 6:16,898,143...16,927,270
Ensembl chr 6:16,808,971...16,996,286
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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 chr31:38,520,733...38,547,003
Ensembl chr31:38,521,103...38,547,018
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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 chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029
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KMT2E |
lysine methyltransferase 2E (inactive) |
severity |
ISO |
mRNA:decreased expression:peripheral blood, bone marrow, mononuclear cells (human) |
RGD |
PMID:24796963 |
RGD:9588539 |
NCBI chr18:15,240,631...15,332,850
Ensembl chr18:15,239,994...15,332,828
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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 chr 6:6,160,939...6,175,271
Ensembl chr 6:6,161,542...6,173,294
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LEP |
leptin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr14:8,115,396...8,130,946
Ensembl chr14:8,116,122...8,131,395
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LOC487387 |
RAP1 GTPase activating protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22614916 |
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NCBI chr 2:77,509,592...77,554,620
Ensembl chr 2:77,527,914...77,544,205
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LTC4S |
leukotriene C4 synthase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr11:1,893,927...1,897,028
Ensembl chr11:1,894,380...1,897,752
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ME1 |
malic enzyme 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr12:43,623,413...43,793,590
Ensembl chr12:43,624,945...43,828,775
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MIR15A |
microRNA mir-15a |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21056550 |
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NCBI chr22:1,846,880...1,846,938
Ensembl chr22:1,846,866...1,846,960
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MIR16-1 |
microRNA mir-16-1 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:21056550 |
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NCBI chr22:1,847,020...1,847,084
Ensembl chr22:1,847,007...1,847,093
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MTARC2 |
mitochondrial amidoxime reducing component 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr38:15,426,884...15,451,701
Ensembl chr38:15,426,666...15,451,136
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MYC |
MYC proto-oncogene, bHLH transcription factor |
onset |
ISO |
mRNA:increased expression:promyelocyte: |
RGD |
PMID:21059853 |
RGD:11532756 |
NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309
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NCAM1 |
neural cell adhesion molecule 1 |
disease_progression |
ISO |
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RGD |
PMID:24296270 |
RGD:40907062 |
NCBI chr 5:19,895,587...20,192,334
Ensembl chr 5:19,895,613...20,191,995
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NPM1 |
nucleophosmin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:14508522 PMID:26285909 |
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NCBI chr 4:40,756,464...40,770,174
Ensembl chr 4:40,756,465...40,770,175
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NRAS |
NRAS proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
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NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
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NUMA1 |
nuclear mitotic apparatus protein 1 |
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ISO |
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OMIM |
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NCBI chr21:26,000,579...26,076,281
Ensembl chr21:26,037,095...26,075,549
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PLAT |
plasminogen activator, tissue type |
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ISO |
protein:increased expression:leukocyte (human) |
RGD |
PMID:10861807 |
RGD:11541060 |
NCBI chr16:23,469,590...23,496,013
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PML |
PML nuclear body scaffold |
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ISO |
human PML/RARA gene fusion in a mouse model CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8616088 PMID:9122233 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 More...
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RGD:41404695 |
NCBI chr30:37,232,337...37,278,434
Ensembl chr30:37,232,306...37,277,741
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PPARG |
peroxisome proliferator activated receptor gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr20:6,134,618...6,265,481
Ensembl chr20:6,050,357...6,207,981
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G |
PRAME |
PRAME nuclear receptor transcriptional regulator |
severity |
ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:18815192 |
RGD:11535037 |
NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112
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G |
PRKAR1A |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17712046 |
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NCBI chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32417439 |
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NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
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RARA |
retinoic acid receptor alpha |
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ISO |
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OMIM |
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NCBI chr 9:22,254,803...22,298,614
Ensembl chr 9:22,254,806...22,289,459
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G |
RETN |
resistin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr20:52,434,148...52,435,627
Ensembl chr20:52,434,271...52,435,624
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G |
ROCK1 |
Rho associated coiled-coil containing protein kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32417439 |
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NCBI chr 7:66,862,614...67,001,538
Ensembl chr 7:66,862,608...67,142,853
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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 chr 3:88,964,707...89,311,817
Ensembl chr 3:88,966,232...89,312,955
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G |
SMO |
smoothened, frizzled class receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23867347 |
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NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033
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TET2 |
tet methylcytosine dioxygenase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
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NCBI chr32:26,021,745...26,145,109
Ensembl chr32:26,059,693...26,143,536
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THBD |
thrombomodulin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16206674 |
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NCBI chr24:599,773...601,649
Ensembl chr24:599,773...601,649
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TMEM127 |
transmembrane protein 127 |
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ISO |
ClinVar Annotator: match by term: Acute promyelocytic leukemia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:34,512,753...34,527,208
Ensembl chr17:34,512,792...34,523,692
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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 chr 9:22,207,501...22,237,497
Ensembl chr 9:22,207,638...22,237,496
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G |
TRIB3 |
tribbles pseudokinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32929351 |
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NCBI chr24:20,450,281...20,461,141
Ensembl chr24:20,451,001...20,457,510
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WT1 |
WT1 transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26285909 |
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NCBI chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
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G |
ZBTB16 |
zinc finger and BTB domain containing 16 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:8387545 PMID:23208507 |
RGD:1599922 |
NCBI chr 5:19,082,594...19,284,360
Ensembl chr 5:19,087,154...19,267,628
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BIRC5 |
baculoviral IAP repeat containing 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16497974 |
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NCBI chr 9:2,930,308...2,959,307
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G |
BMP6 |
bone morphogenetic protein 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18688853 |
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NCBI chr35:7,780,763...7,833,095
Ensembl chr35:7,804,231...7,831,845
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CARD11 |
caspase recruitment domain family member 11 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 6:14,273,115...14,331,029
Ensembl chr 6:14,210,114...14,332,094
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G |
CCR4 |
C-C motif chemokine receptor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr23:3,844,072...3,847,770
Ensembl chr23:3,844,173...3,845,255
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G |
CCR7 |
C-C motif chemokine receptor 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 9:22,077,976...22,092,818
Ensembl chr 9:22,068,775...22,090,656
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CD163 |
CD163 molecule |
disease_progression |
ISO |
protein:increased expression:lymph node tumor (human) |
RGD |
PMID:23557330 |
RGD:42721976 |
NCBI chr27:37,669,757...37,700,746
Ensembl chr27:37,669,827...37,753,106
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CD274 |
CD274 molecule |
disease_progression |
ISO |
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RGD |
PMID:27418641 |
RGD:41412177 |
NCBI chr 1:93,461,735...93,605,772
Ensembl chr 1:93,585,518...93,603,522
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CD28 |
CD28 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr37:12,503,849...12,536,362
Ensembl chr37:12,503,811...12,532,854
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CD68 |
CD68 molecule |
disease_progression |
ISO |
protein:increased expression:lymph node tumor (human) |
RGD |
PMID:23557330 |
RGD:42721976 |
NCBI chr 5:32,500,899...32,503,355
Ensembl chr 5:32,501,380...32,503,183
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CD80 |
CD80 molecule |
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ISO |
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RGD |
PMID:10590132 |
RGD:6902938 |
NCBI chr33:23,177,136...23,208,421
Ensembl chr33:23,177,138...23,201,380
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CD86 |
CD86 molecule |
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ISO |
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RGD |
PMID:10590132 |
RGD:6902938 |
NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
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G |
CSNK1A1 |
casein kinase 1 alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 4:59,435,530...59,485,591
Ensembl chr 4:59,435,764...59,483,475
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G |
CSNK2A1 |
casein kinase 2 alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr24:20,333,593...20,390,341
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G |
CSNK2B |
casein kinase 2 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr12:1,149,467...1,154,417
Ensembl chr12:1,149,548...1,154,418
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G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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G |
FAS |
Fas cell surface death receptor |
susceptibility |
ISO |
protein:increased expression:peripheral blood mononuclear cell: DNA:polymorphism:promoter: -670 G>A(human) |
RGD |
PMID:7513372 PMID:17962369 |
RGD:11049147 RGD:11049453 |
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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FOXP3 |
forkhead box P3 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23797717 PMID:23962110 |
RGD:38456007 |
NCBI chr X:42,331,229...42,362,841
Ensembl chr X:42,344,108...42,350,758
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G |
FYN |
FYN proto-oncogene, Src family tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr12:68,105,060...68,316,630
Ensembl chr12:68,075,184...68,316,541
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G |
GATA3 |
GATA binding protein 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760
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G |
GPR183 |
G protein-coupled receptor 183 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr22:49,332,665...49,347,721
Ensembl chr22:49,333,188...49,347,593
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G |
HNRNPA2B1 |
heterogeneous nuclear ribonucleoprotein A2/B1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr14:39,498,805...39,509,034
Ensembl chr14:39,500,897...39,508,952
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G |
ICOS |
inducible T cell costimulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr37:12,663,839...12,735,266
Ensembl chr37:12,670,999...12,733,458
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IFNG |
interferon gamma |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8800741 PMID:23962110 |
RGD:10755707 |
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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G |
IKZF2 |
IKAROS family zinc finger 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr37:20,508,647...20,662,549
Ensembl chr37:20,516,239...20,661,298
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G |
IL10 |
interleukin 10 |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:8704212 PMID:23962110 |
RGD:11049460 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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IL2 |
interleukin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110 |
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NCBI chr19:17,750,780...17,756,394
Ensembl chr19:17,750,780...17,756,394
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G |
IL4 |
interleukin 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23962110 |
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NCBI chr11:20,972,693...20,981,539
Ensembl chr11:20,972,690...20,981,534
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G |
IL5 |
interleukin 5 |
disease_progression |
ISO |
protein:increased expression:serum |
RGD |
PMID:16425276 |
RGD:11354942 |
NCBI chr11:20,825,469...20,827,269
Ensembl chr11:20,825,469...20,827,269
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G |
IL6 |
interleukin 6 |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:10374863 |
RGD:11060275 |
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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G |
IRF4 |
interferon regulatory factor 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr35:760,367...782,314
Ensembl chr35:767,011...781,339
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G |
JAK3 |
Janus kinase 3 |
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ISO |
DNA:missense mutations: :p.L156P, p.R172Q, p.E183G (human) |
RGD |
PMID:21821710 |
RGD:11531131 |
NCBI chr20:45,051,135...45,068,445
Ensembl chr20:45,050,526...45,072,805
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MYB |
MYB proto-oncogene, transcription factor |
disease_progression |
ISO |
mRNA:splice variants:CD4+ T cell: |
RGD |
PMID:27307595 |
RGD:11532670 |
NCBI chr 1:27,908,309...27,991,984
Ensembl chr 1:27,908,364...27,991,969
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G |
NOTCH1 |
notch receptor 1 |
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ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:16707600 |
RGD:1580759 |
NCBI chr 9:48,975,972...49,018,985
Ensembl chr 9:48,974,757...49,017,277
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G |
NRAS |
NRAS proto-oncogene, GTPase |
disease_progression |
ISO |
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RGD |
PMID:21586752 |
RGD:11535055 |
NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
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PLCG1 |
phospholipase C gamma 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr24:29,198,536...29,213,899
Ensembl chr24:29,198,556...29,214,714
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G |
PRKCB |
protein kinase C beta |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 6:21,742,970...22,064,360
Ensembl chr 6:21,742,973...22,065,185
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STAT3 |
signal transducer and activator of transcription 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24090995 |
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NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
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G |
TAL2 |
TAL bHLH transcription factor 2 |
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ISO |
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RGD |
PMID:1763056 |
RGD:1599285 |
NCBI chr11:61,425,927...61,484,525
Ensembl chr11:61,456,727...61,482,348
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G |
TERF2 |
telomeric repeat binding factor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17643074 |
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NCBI chr 5:80,278,224...80,305,315
Ensembl chr 5:80,277,505...80,306,342
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G |
TLX1 |
T cell leukemia homeobox 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
RGD CTD |
PMID:1683261 PMID:1717256 |
RGD:1599439 |
NCBI chr28:13,807,428...13,813,875
Ensembl chr28:13,807,720...13,813,849
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G |
TNFSF8 |
TNF superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9058727 |
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NCBI chr11:68,979,498...69,006,898
Ensembl chr11:68,982,360...69,007,355
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G |
TP73 |
tumor protein p73 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr 5:58,194,385...58,241,159
Ensembl chr 5:58,187,826...58,240,839
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G |
VAV1 |
vav guanine nucleotide exchange factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437031 |
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NCBI chr20:53,482,239...53,532,399
Ensembl chr20:53,482,498...53,531,296
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ATRX |
ATRX chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome |
OMIM ClinVar |
PMID:9326931 PMID:10995512 PMID:12858175 PMID:16955409 PMID:20500465 PMID:24327140 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31130284 More...
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NCBI chr X:59,772,067...60,107,016
Ensembl chr X:59,774,585...60,106,980
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G |
ADH5 |
alcohol dehydrogenase 5 (class III), chi polypeptide |
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ISO |
ClinVar Annotator: match by term: AMED syndrome, digenic |
OMIM ClinVar |
PMID:25741868 PMID:33355142 |
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NCBI chr32:21,249,459...21,261,130
Ensembl chr32:21,249,739...21,265,048
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G |
ALDH2 |
aldehyde dehydrogenase 2 family member |
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ISO |
ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC |
ClinVar |
PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 PMID:8903321 PMID:10627091 PMID:10780266 PMID:15654505 PMID:15902904 PMID:16046871 PMID:16440063 PMID:16679777 PMID:17885622 PMID:18056758 PMID:20010786 PMID:22992668 PMID:33355142 More...
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NCBI chr26:9,319,109...9,361,021
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ALK |
ALK receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16151469 PMID:19503098 PMID:21345110 PMID:22155737 PMID:22920921 PMID:22968692 More...
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NCBI chr17:23,010,308...23,688,841
Ensembl chr17:23,010,308...23,688,841
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G |
HSP90AA1 |
heat shock protein 90 alpha family class A member 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17157164 |
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NCBI chr 8:70,091,203...70,096,107
Ensembl chr 8:70,092,217...70,095,243
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G |
IRF4 |
interferon regulatory factor 4 |
|
ISO |
DNA:translocation |
RGD |
PMID:18987657 |
RGD:11526155 |
NCBI chr35:760,367...782,314
Ensembl chr35:767,011...781,339
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G |
JUNB |
JunB proto-oncogene, AP-1 transcription factor subunit |
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ISO |
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RGD |
PMID:12145210 |
RGD:1549449 |
NCBI chr20:49,358,904...49,360,746
Ensembl chr20:49,359,399...49,360,442
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G |
RELA |
RELA proto-oncogene, NF-kB subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17261581 |
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NCBI chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875
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G |
STAT3 |
signal transducer and activator of transcription 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22155737 |
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NCBI chr 9:20,539,660...20,614,631
Ensembl chr 9:20,539,697...20,612,672
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G |
TNFRSF8 |
TNF receptor superfamily member 8 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10908157 PMID:17261581 |
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NCBI chr 2:84,185,445...84,225,986
Ensembl chr 2:84,186,961...84,232,675
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G |
TWIST1 |
twist family bHLH transcription factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22155737 |
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G |
FGFR1 |
fibroblast growth factor receptor 1 |
|
ISO |
|
RGD |
PMID:15050920 |
RGD:11352668 |
NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261
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G |
SETBP1 |
SET binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23222956 |
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NCBI chr 7:46,020,892...46,378,867
Ensembl chr 7:46,020,889...46,378,005
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G |
HSPA9 |
heat shock protein family A (Hsp70) member 9 |
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ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 4 |
OMIM ClinVar |
PMID:3653362 PMID:20817635 PMID:25741868 PMID:26491070 |
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NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434
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G |
GLRX5 |
glutaredoxin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 8:64,383,203...64,392,886
Ensembl chr 8:64,383,227...64,383,841
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G |
SLC25A38 |
solute carrier family 25 member 38 |
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ISO |
ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive |
OMIM ClinVar |
PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 PMID:25741868 PMID:25985931 PMID:26636621 PMID:28492532 PMID:28772256 PMID:29499877 PMID:29786897 PMID:30735661 PMID:31338833 PMID:31642437 PMID:32605921 PMID:32790119 PMID:33256393 More...
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NCBI chr23:9,031,984...9,045,781
Ensembl chr23:9,032,000...9,045,788
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G |
GLRX5 |
glutaredoxin 5 |
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ISO |
ClinVar Annotator: match by term: Sideroblastic anemia 3 |
OMIM ClinVar |
PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 PMID:30660387 More...
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NCBI chr 8:64,383,203...64,392,886
Ensembl chr 8:64,383,227...64,383,841
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G |
ARSA |
arylsulfatase A |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia |
ClinVar |
PMID:25741868 |
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NCBI chr10:16,691,927...16,694,346
Ensembl chr10:16,691,758...16,695,398
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G |
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 chr 6:29,193,192...29,226,935
Ensembl chr 6:29,196,421...29,226,887
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G |
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 chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
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G |
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 chr18:35,099,660...35,148,767
Ensembl chr18:35,103,934...35,148,000
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G |
ABCG2 |
ATP binding cassette subfamily G member 2 |
susceptibility |
ISO |
DNA:SNPs,haplotype: :rs1481012,rs2231142(human) |
RGD |
PMID:21918980 |
RGD:11080977 |
NCBI chr32:11,443,778...11,517,674
Ensembl chr32:11,443,780...11,517,674
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G |
ACOXL |
acyl-CoA oxidase like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr17:35,269,824...35,617,068
Ensembl chr17:35,269,501...35,617,335
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G |
AICDA |
activation induced cytidine deaminase |
disease_progression |
ISO |
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RGD |
PMID:21133730 |
RGD:11039455 |
NCBI chr27:37,064,107...37,073,791
Ensembl chr27:37,064,080...37,073,789
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G |
APOE |
apolipoprotein E |
disease_progression |
ISO |
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RGD |
PMID:18784741 |
RGD:11040549 |
NCBI chr 1:110,525,717...110,528,534
Ensembl chr 1:110,525,722...110,528,440
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G |
ATM |
ATM serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17968022 |
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NCBI chr 5:24,180,129...24,297,207
Ensembl chr 5:24,182,135...24,297,207
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G |
BCL11A |
BAF chromatin remodeling complex subunit BCL11A |
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ISO |
DNA:translocation:5' utr: (human) |
RGD |
PMID:11719382 |
RGD:11100004 |
NCBI chr10:60,589,298...60,691,997
Ensembl chr10:60,589,708...60,689,073
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G |
BCL2 |
BCL2 apoptosis regulator |
severity no_association treatment |
ISO |
protein:increased expression:B cell (human) CTD Direct Evidence: marker/mechanism DNA:snp:promoter:g.-938C>A (human) |
RGD CTD |
PMID:16960146 PMID:17296974 PMID:17959858 PMID:20001236 PMID:21750559 PMID:23770605 More...
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RGD:11522735 RGD:11526104 RGD:11526105 RGD:11526110 |
NCBI chr 1:13,733,849...13,900,653
Ensembl chr 1:13,731,406...13,900,658
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G |
BMF |
Bcl2 modifying factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr30:7,301,000...7,321,949
Ensembl chr30:7,274,174...7,322,034
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G |
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:19383316 PMID:19537845 PMID:19913317 PMID:20350999 PMID:20619739 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 chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
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G |
BTK |
Bruton tyrosine kinase |
treatment |
ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia |
RGD ClinVar |
PMID:23045577 PMID:24869598 PMID:25741868 PMID:28492532 |
RGD:11040699 |
NCBI chr X:75,270,952...75,302,663
Ensembl chr X:75,270,979...75,302,562
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G |
CBL |
Cbl proto-oncogene |
severity |
ISO |
mRNA,protein:increased expression:CD5+ B cell: DNA:hypophosphorylation:CD5+ B cell: |
RGD |
PMID:17804547 |
RGD:11038803 |
NCBI chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956
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G |
CCDC50 |
coiled-coil domain containing 50 |
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ISO |
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RGD |
PMID:19641524 |
RGD:9685139 |
NCBI chr34:23,168,594...23,243,221
Ensembl chr34:23,168,525...23,258,497
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G |
CD40 |
CD40 molecule |
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ISO |
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RGD |
PMID:20616215 |
RGD:5490532 |
NCBI chr24:33,352,992...33,383,488
Ensembl chr24:33,372,930...33,383,301
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G |
CD40LG |
CD40 ligand |
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ISO |
mouse-human chimeric gene in human |
RGD |
PMID:20882050 |
RGD:11352235 |
NCBI chr X:107,001,421...107,023,007
Ensembl chr X:107,010,890...107,023,006
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G |
CD5 |
CD5 molecule |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr18:55,216,415...55,235,567
Ensembl chr18:55,217,276...55,235,405
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G |
CD79B |
CD79b molecule |
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ISO |
protein:decreased expression:B lymphocyte, cell surface (human) mRNA, protein:splice variants, alternative forms:exon 3 (human) DNA:polymorphism:multiple (human) |
RGD |
PMID:9269755 PMID:10090943 PMID:10552962 |
RGD:11250403 RGD:151665190 RGD:151665202 |
NCBI chr 9:11,834,230...11,844,946
Ensembl chr 9:11,842,190...11,844,843
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G |
CD86 |
CD86 molecule |
severity |
ISO |
protein:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:25179679 |
RGD:11354969 |
NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087
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G |
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 3:54,405,140...54,499,614
Ensembl chr 3:54,405,717...54,500,221
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G |
CTLA4 |
cytotoxic T-lymphocyte associated protein 4 |
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ISO |
protein:increased expression:T cell |
RGD |
PMID:15914560 PMID:16094420 |
RGD:11344923 RGD:11352246 |
NCBI chr37:12,647,712...12,653,874
Ensembl chr37:12,634,563...12,653,874
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G |
DKC1 |
dyskerin pseudouridine synthase 1 |
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ISO |
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RGD |
PMID:18077792 |
RGD:11251735 |
NCBI chr X:122,838,787...122,850,870
Ensembl chr X:122,838,645...122,850,884
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G |
DNMT3B |
DNA methyltransferase 3 beta |
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ISO |
mRNA:decreased expression: B cell |
RGD |
PMID:15467427 |
RGD:9589146 |
NCBI chr24:22,096,386...22,123,378
Ensembl chr24:22,096,349...22,122,900
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G |
ERCC2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
severity |
ISO |
DNA:SNP: :p.K751Q (rs13181) (human) |
RGD |
PMID:19484764 PMID:22739018 |
RGD:11252203 RGD:11252204 |
NCBI chr 1:110,173,781...110,191,612
Ensembl chr 1:110,173,715...110,190,125
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G |
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 chr25:51,331,876...51,425,754
Ensembl chr25:51,332,409...51,425,449
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G |
FAS |
Fas cell surface death receptor |
disease_progression |
ISO |
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RGD |
PMID:12901972 |
RGD:11049461 |
NCBI chr26:38,738,811...38,763,298
Ensembl chr26:38,737,611...38,763,321
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G |
FBXW7 |
F-box and WD repeat domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:25741868 PMID:26619011 |
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NCBI chr15:50,187,579...50,417,188
Ensembl chr15:50,189,240...50,417,195
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G |
GNAS |
GNAS complex locus |
disease_progression |
ISO |
DNA:polymorphism:393T>C (human) |
RGD |
PMID:17020971 |
RGD:1601379 |
NCBI chr24:43,643,409...43,658,641
Ensembl chr24:43,643,405...43,658,657
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G |
HRAS |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:31775759 PMID:168335863 More...
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NCBI chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717
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G |
ICAM1 |
intercellular adhesion molecule 1 |
severity |
ISO |
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RGD |
PMID:7658704 |
RGD:11354983 |
NCBI chr20:50,818,715...50,827,914
Ensembl chr20:50,818,715...50,827,914
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G |
IFNG |
interferon gamma |
susceptibility |
ISO |
DNA:polymorphism: :847A>T(human) |
RGD |
PMID:19757192 |
RGD:10755703 |
NCBI chr10:10,406,866...10,411,698
Ensembl chr10:10,406,867...10,411,698
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G |
IL10 |
interleukin 10 |
disease_progression no_association |
ISO |
protein:increased expression:serum DNA:SNPs: :rs1800890, rs4072227, rs17015865 (human) DNA:SNPs: :multiple |
RGD |
PMID:10638947 PMID:19573080 PMID:22945689 |
RGD:11041895 RGD:11049165 RGD:11049174 |
NCBI chr 7:5,933,285...5,937,057
Ensembl chr 7:5,933,285...5,937,057
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G |
IL19 |
interleukin 19 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr 7:6,000,994...6,006,959
Ensembl chr 7:6,000,907...6,006,870
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G |
IL1A |
interleukin 1 alpha |
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ISO |
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RGD |
PMID:19074885 |
RGD:11051968 |
NCBI chr17:36,969,581...36,979,445
Ensembl chr17:36,970,573...36,979,435
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G |
IL1B |
interleukin 1 beta |
severity |
ISO |
DNA:SNP:promoter:-511C>T (human) protein:decreased expression:plasma: |
RGD |
PMID:10870116 PMID:18271063 |
RGD:11051967 RGD:11522755 |
NCBI chr17:37,019,329...37,033,388
Ensembl chr17:37,019,329...37,024,458
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G |
IL1RN |
interleukin 1 receptor antagonist |
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ISO |
protein:decreased expression:plasma: |
RGD |
PMID:10870116 |
RGD:11522755 |
NCBI chr17:37,236,690...37,250,424
Ensembl chr17:37,212,751...37,249,329
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G |
IL6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism protein:increased expression:plasma: |
CTD RGD |
PMID:10870116 PMID:18006695 |
RGD:11522755 |
NCBI chr14:36,474,268...36,478,519
Ensembl chr14:36,473,394...36,478,519
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G |
IRF4 |
interferon regulatory factor 4 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12079517 PMID:12393648 PMID:18758461 |
RGD:11526160 RGD:11530024 |
NCBI chr35:760,367...782,314
Ensembl chr35:767,011...781,339
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G |
ITGA4 |
integrin subunit alpha 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21093051 |
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NCBI chr36:24,670,464...24,686,719
Ensembl chr36:24,653,408...24,729,057
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G |
KRAS |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:18316791 PMID:18794081 PMID:19075190 PMID:19114683 PMID:19679400 PMID:20921462 PMID:20921465 PMID:21228335 PMID:22407852 PMID:22722830 PMID:23325582 PMID:25157968 PMID:26619011 More...
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NCBI chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369
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G |
LEF1 |
lymphoid enhancer binding factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr32:28,516,002...28,633,759
Ensembl chr32:28,517,108...28,634,019
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G |
LOC100683403 |
NKG2-A/NKG2-B type II integral membrane protein-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr27:35,307,892...35,374,397
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G |
LOC478984 |
low affinity immunoglobulin gamma Fc region receptor III |
no_association |
ISO |
DNA:SNP:exon:p.F158V (rs396991) (human) |
RGD |
PMID:14563637 |
RGD:11352260 |
NCBI chr38:21,054,870...21,060,948
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G |
LRRC56 |
leucine rich repeat containing 56 |
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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:12835555 PMID:16329078 PMID:16372351 PMID:16835863 PMID:17211612 PMID:17384584 PMID:18042262 PMID:19213030 PMID:19255327 PMID:19773371 PMID:20859122 PMID:21438134 PMID:21495179 PMID:21850009 PMID:22256804 PMID:22499344 PMID:22683711 PMID:22726224 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25326635 PMID:25741868 PMID:26619011 PMID:27283355 PMID:27444071 PMID:28492532 PMID:29493581 PMID:31775759 PMID:168335863 More...
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NCBI chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220
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G |
MIR143 |
microRNA mir-143 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17892514 |
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NCBI chr 4:59,534,535...59,534,589
Ensembl chr 4:59,534,535...59,534,594
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G |
MIR145 |
microRNA mir-145 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17892514 |
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NCBI chr 4:59,533,128...59,533,210
Ensembl chr 4:59,533,128...59,533,210
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G |
MS4A1 |
membrane spanning 4-domains A1 |
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ISO |
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RGD |
PMID:19911856 |
RGD:2316994 |
NCBI chr21:50,722,142...50,734,934
Ensembl chr21:50,722,041...50,733,704
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G |
MTHFR |
methylenetetrahydrofolate reductase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16706930 |
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NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818
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G |
MYD88 |
MYD88 innate immune signal transduction adaptor |
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ISO |
ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:21179087 PMID:22931316 PMID:23215570 PMID:26619011 PMID:28492532 |
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NCBI chr23:7,901,578...7,905,274
Ensembl chr23:7,901,250...7,904,534
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G |
NRAS |
NRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Leukemia, B-cell, chronic |
ClinVar |
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
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NCBI chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788
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G |
P2RX7 |
purinergic receptor P2X 7 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11003599 |
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NCBI chr26:7,928,863...7,983,956
Ensembl chr26:7,940,985...7,983,740
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G |
PECAM1 |
platelet and endothelial cell adhesion molecule 1 |
severity |
ISO |
protein:increased expression:B cell (human) |
RGD |
PMID:12673718 |
RGD:11541127 |
NCBI chr 9:12,166,124...12,219,553
Ensembl chr 9:12,166,775...12,219,778
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G |
PLCG2 |
phospholipase C gamma 2 |
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ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia |
ClinVar |
PMID:24869598 |
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NCBI chr 5:70,054,683...70,233,459
Ensembl chr 5:70,059,255...70,207,049
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G |
PMAIP1 |
phorbol-12-myristate-13-acetate-induced protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr 1:16,469,793...16,472,910
Ensembl chr 1:16,469,793...16,472,910
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G |
POLB |
DNA polymerase beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18006695 |
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NCBI chr16:23,306,359...23,335,352
Ensembl chr16:23,306,367...23,335,322
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G |
PPP2R5C |
protein phosphatase 2 regulatory subunit B'gamma |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16038780 |
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NCBI chr 8:69,846,311...69,969,409
Ensembl chr 8:69,846,446...69,967,578
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G |
PRAME |
PRAME nuclear receptor transcriptional regulator |
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ISO |
protein:increased expression:mononuclear cell (human) |
RGD |
PMID:16620968 |
RGD:11535021 |
NCBI chr26:27,124,901...27,137,772
Ensembl chr26:27,124,902...27,136,112
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G |
PRKD2 |
protein kinase D2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18758461 |
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NCBI chr 1:109,206,400...109,241,529
Ensembl chr 1:109,207,067...109,330,007
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G |
PTGS2 |
prostaglandin-endoperoxide synthase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16314473 |
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NCBI chr 7:19,668,079...19,674,903
Ensembl chr 7:19,668,082...19,674,903
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G |
PTPN11 |
protein tyrosine phosphatase non-receptor type 11 |
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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: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:28098151 PMID:30868567 More...
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NCBI chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481
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G |
QPCT |
glutaminyl-peptide cyclotransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23770605 |
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NCBI chr17:29,700,422...29,741,652
Ensembl chr17:29,716,378...29,741,221
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G |
RBL2 |
RB transcriptional corepressor like 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16038780 |
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NCBI chr 2:62,263,974...62,315,371
Ensembl chr 2:62,265,293...62,315,425
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G |
SF3B1 |
splicing factor 3b subunit 1 |
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ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia |
ClinVar |
PMID:23634996 PMID:25741868 PMID:26619011 |
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NCBI chr37:6,922,150...6,962,474
Ensembl chr37:6,924,047...6,962,896
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G |
SF3B2 |
splicing factor 3b subunit 2 |
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ISO |
ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia |
ClinVar |
PMID:26619011 |
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NCBI chr18:51,197,924...51,212,397
Ensembl chr18:51,197,939...51,212,354
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G |
SP140 |
SP140 nuclear body protein |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18758461 |
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NCBI chr25:42,459,013...42,527,141
Ensembl chr25:42,459,084...42,527,093
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G |
TERT |
telomerase reverse transcriptase |
disease_progression |
ISO |
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RGD |
PMID:17344921 |
RGD:11038662 |
NCBI chr34:11,288,622...11,307,790
Ensembl chr34:11,288,622...11,307,951
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G |
TFRC | |