RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Bone Marrow Neoplasms |
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Accession: | DOID:9002641
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browse the term
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Definition: | Neoplasms located in the bone marrow. They are differentiated from neoplasms composed of bone marrow cells, such as MULTIPLE MYELOMA. Most bone marrow neoplasms are metastatic. |
Synonyms: | exact_synonym: | bone marrow neoplasm; bone marrow tumor |
| primary_id: | MESH:D019046 |
| alt_id: | RDO:0007250 |
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Csf3 |
colony stimulating factor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20026017 |
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NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Tp53 |
tumor protein p53 |
disease_progression |
ISO |
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RGD |
PMID:24761810 |
RGD:11073734 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Ddx41 |
DEAD-box helicase 41 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
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Flt3 |
Fms related receptor tyrosine kinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Gfi1b |
growth factor independent 1B transcriptional repressor |
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ISO |
mRNA:increased expression:bone marrow cell: |
RGD |
PMID:17156408 |
RGD:11040507 |
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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Hoxb9 |
homeo box B9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr10:81,237,312...81,240,818
Ensembl chr10:81,237,312...81,240,818
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Kmt2a |
lysine methyltransferase 2A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Npm1 |
nucleophosmin 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
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Nup98 |
nucleoporin 98 and 96 precursor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr 1:156,494,423...156,591,415
Ensembl chr 1:156,494,423...156,591,415
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Rb1 |
RB transcriptional corepressor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Tp53 |
tumor protein p53 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:30926971 |
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Atrx |
ATRX, chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Acquired hemoglobin H disease | ClinVar Annotator: match by term: Alpha-thalassemia myelodysplasia syndrome CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:9326931 PMID:10995512 PMID:12858175 PMID:16955409 PMID:20500465 PMID:24327140 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31130284 PMID:33057194 PMID:35982159 More...
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Adh5 |
alcohol dehydrogenase 5 (class III), chi polypeptide |
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ISO |
ClinVar Annotator: match by term: AMED syndrome, digenic |
OMIM ClinVar |
PMID:25741868 PMID:33355142 |
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NCBI chr 2:226,975,184...226,987,591
Ensembl chr 2:226,947,466...226,987,591
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Aldh2 |
aldehyde dehydrogenase 2 family member |
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ISO |
ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 7, DIGENIC |
ClinVar |
PMID:2987944 PMID:4065146 PMID:6650498 PMID:7180842 PMID:7593603 PMID:8903321 PMID:10627091 PMID:10780266 PMID:15654505 PMID:15902904 PMID:16046871 PMID:16440063 PMID:16679777 PMID:17885622 PMID:18056758 PMID:20010786 PMID:22992668 PMID:33355142 More...
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NCBI chr12:34,949,549...34,982,527
Ensembl chr12:34,901,219...34,982,521
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Asxl1 |
ASXL transcriptional regulator 1 |
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ISO |
ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative |
ClinVar |
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NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Fgfr1 |
Fibroblast growth factor receptor 1 |
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ISO |
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RGD |
PMID:15050920 |
RGD:11352668 |
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Mfsd11 |
major facilitator superfamily domain containing 11 |
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ISO |
ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative |
ClinVar |
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NCBI chr10:102,055,516...102,075,064
Ensembl chr10:102,056,051...102,075,064
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Runx1 |
RUNX family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative |
ClinVar |
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NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Setbp1 |
SET binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23222956 |
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NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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Srsf2 |
serine and arginine rich splicing factor 2 |
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ISO |
ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative |
ClinVar |
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NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
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Tet2 |
tet methylcytosine dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Atypical chronic myeloid leukemia | ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative |
ClinVar |
PMID:22905207 PMID:28492532 |
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NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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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:25741868 PMID:26491070 PMID:28492532 |
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NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
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Glrx5 |
glutaredoxin 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
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NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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Slc25a38 |
solute carrier family 25, member 38 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive | ClinVar Annotator: match by term: Sideroblastic anemia pyridoxine-refractory autosomal recessive |
OMIM CTD ClinVar |
PMID:19412178 PMID:21393332 PMID:24323989 PMID:25326635 PMID:25512395 PMID:25741868 PMID:25985931 PMID:26636621 PMID:28492532 PMID:28772256 PMID:29499877 PMID:29786897 PMID:30214775 PMID:30735661 PMID:31338833 PMID:31642437 PMID:32605921 PMID:32790119 PMID:33256393 PMID:34298585 More...
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NCBI chr 8:119,835,546...119,848,334
Ensembl chr 8:119,835,634...119,848,332
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Glrx5 |
glutaredoxin 5 |
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ISO |
ClinVar Annotator: match by term: Sideroblastic anemia 3 |
OMIM ClinVar |
PMID:17485548 PMID:20364084 PMID:25342667 PMID:25741868 PMID:26100117 PMID:30660387 More...
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NCBI chr 6:123,988,461...123,998,545
Ensembl chr 6:123,988,134...123,998,545
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Arsa |
arylsulfatase A |
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ISO |
ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia |
ClinVar |
PMID:25741868 |
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NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
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Aicda |
activation-induced cytidine deaminase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21570118 |
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NCBI chr 4:155,774,132...155,783,972
Ensembl chr 4:155,774,132...155,783,972
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Bcr |
BCR activator of RhoGEF and GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21570118 |
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NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Esr2 |
estrogen receptor 2 |
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ISO |
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RGD |
PMID:12740446 |
RGD:734951 |
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Hmox1 |
heme oxygenase 1 |
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ISO |
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RGD |
PMID:22139798 |
RGD:10755566 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Mir150 |
microRNA 150 |
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ISO |
miRNA:decreased expression:leukocytes |
RGD |
PMID:21501493 |
RGD:13782140 |
NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
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Tcn2 |
transcobalamin 2 |
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ISO |
protein:increased expression:: |
RGD |
PMID:1059479 |
RGD:11060122 |
NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489
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Srp72 |
signal recognition particle 72 |
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ISO |
ClinVar Annotator: match by term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition |
OMIM ClinVar |
PMID:9536098 PMID:17576681 PMID:22541560 PMID:25741868 PMID:28492532 |
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NCBI chr14:31,168,175...31,195,717
Ensembl chr14:31,168,293...31,195,729
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Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:10988075 PMID:11423618 PMID:11567109 PMID:11569495 PMID:11853795 PMID:11861307 PMID:11964322 PMID:12130516 PMID:12399961 PMID:12576318 PMID:12623848 PMID:12663457 PMID:12783380 PMID:14559829 PMID:14745431 PMID:15194504 PMID:15256422 PMID:15381060 PMID:15510211 PMID:17008892 PMID:17114651 PMID:17189410 PMID:18223278 PMID:18354488 PMID:18615627 PMID:18757400 PMID:18828913 PMID:19164531 PMID:19264234 PMID:19466505 PMID:19557636 PMID:19652056 PMID:19768693 PMID:19811824 PMID:20010464 PMID:20367437 PMID:20512393 PMID:20537386 PMID:20557306 PMID:20607847 PMID:20697894 PMID:20702476 PMID:20963643 PMID:21221851 PMID:21489624 PMID:21505103 PMID:21509757 PMID:21562040 PMID:21605905 PMID:21762985 PMID:21872826 PMID:21888027 PMID:21895409 PMID:22210874 PMID:22306673 PMID:22772060 PMID:22870928 PMID:22912393 PMID:23355941 PMID:23540562 PMID:23575252 PMID:23676790 PMID:24109527 PMID:24236021 PMID:24456693 PMID:25152116 PMID:25157968 PMID:25686603 PMID:25741868 PMID:28492532 PMID:31775759 PMID:36063163 More...
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NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Bcr |
BCR activator of RhoGEF and GTPase |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:24033266 PMID:24446311 PMID:25157968 PMID:26619011 |
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Csf3r |
colony stimulating factor 3 receptor |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:23604229 PMID:23634996 PMID:23656643 PMID:24081659 PMID:24403076 PMID:24614839 PMID:24854193 PMID:25491280 PMID:25741868 PMID:25932451 PMID:26875968 PMID:27148573 PMID:27581359 PMID:28209919 PMID:28219221 PMID:28492532 PMID:28762112 PMID:30967555 PMID:31697825 More...
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NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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Ikzf1 |
IKAROS family zinc finger 1 |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
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NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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Insl6 |
insulin-like 6 |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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Jak2 |
Janus kinase 2 |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kit |
KIT proto-oncogene receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:16307017 PMID:22703879 PMID:24728327 PMID:25741868 PMID:28492532 PMID:31775759 More...
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NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:2278970 PMID:3122217 PMID:8439212 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:18316791 PMID:19018267 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20921462 PMID:20921465 PMID:20949621 PMID:21044336 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22235099 PMID:22407852 PMID:22683711 PMID:22897852 PMID:23096712 PMID:23406027 PMID:24033266 PMID:24138715 PMID:25157968 PMID:25741868 PMID:26242988 PMID:26372703 PMID:28492532 PMID:29298116 PMID:31891627 More...
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NCBI chr 4:178,185,418...178,218,484
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Nras |
NRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:2278970 PMID:2674680 PMID:3122217 PMID:8120410 PMID:12460918 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18948947 PMID:19075190 PMID:19657110 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21305640 PMID:21729679 PMID:21829508 PMID:22407852 PMID:23134356 PMID:23334668 PMID:23414587 PMID:23515407 PMID:23614898 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28594414 PMID:30417923 PMID:32888943 More...
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NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Setbp1 |
SET binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:18398855 PMID:18414213 PMID:20436468 PMID:21371013 PMID:23222956 PMID:23400866 PMID:25082129 PMID:25741868 PMID:28492532 More...
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NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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Sf3b1 |
splicing factor 3b, subunit 1 |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia, BCR-ABL1 positive |
ClinVar |
PMID:23395771 PMID:25741868 |
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NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Abcb1a |
ATP binding cassette subfamily B member 1A |
treatment susceptibility |
ISO |
DNA:SNPs: :1236T>C,2677G>A(human) DNA:SNP, haplotype: :3435C>T (human) |
RGD |
PMID:24581936 PMID:26250462 |
RGD:11081178, RGD:11081180 |
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcc2 |
ATP binding cassette subfamily C member 2 |
treatment |
ISO |
DNA:haploltype: :-24C>T, 1249G>A, 3972C>T(human) |
RGD |
PMID:25060527 |
RGD:11080961 |
NCBI chr 1:242,664,657...242,723,239
Ensembl chr 1:242,664,657...242,723,238
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Abcg2 |
ATP binding cassette subfamily G member 2 |
treatment susceptibility |
ISO |
DNA:SNP: :421C>A(human) DNA:haplotype:cds: p.Q141K,p.V12M,(rs2231142),(rs2725252)(human) DNA:SNP,haplotype: :C>A421(human) |
RGD |
PMID:24581936 PMID:24123600 PMID:26250462 |
RGD:11081178, RGD:11081181, RGD:11081180 |
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
susceptibility treatment |
ISO |
ClinVar Annotator: match by term: ABL1-related disorder | ClinVar Annotator: match by term: Leukemia, Philadelphia chromosome-positive, resistant to imatinib CTD Direct Evidence: marker/mechanism DNA:gene fusion DNA:missense mutations: :multiple |
ClinVar CTD OMIM RGD |
PMID:10988075 PMID:11423618 PMID:11569495 PMID:11853795 PMID:11861307 PMID:11964322 PMID:12130516 PMID:12399961 PMID:12623848 PMID:12663457 PMID:14559829 PMID:14745431 PMID:15194504 PMID:15256422 PMID:15381060 PMID:15604220 PMID:18615627 PMID:18673174 PMID:19466505 PMID:19652056 PMID:20367437 PMID:20512393 PMID:20537386 PMID:20697894 PMID:20963643 PMID:21505103 PMID:21562040 PMID:21762985 PMID:21872826 PMID:21895409 PMID:21908430 PMID:22306673 PMID:22772060 PMID:22870928 PMID:23355941 PMID:23540562 PMID:23676790 PMID:24236021 PMID:24456693 PMID:24728327 PMID:25157968 PMID:25686603 PMID:25741868 PMID:28492532 PMID:33070465 PMID:33783941 PMID:36063163 PMID:3021820 PMID:25133686 PMID:21481795 PMID:12067277 PMID:23289634 More...
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RGD:1598673, RGD:13674161, RGD:11038814, RGD:14392796, RGD:11038807 |
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Abl2 |
ABL proto-oncogene 2, non-receptor tyrosine kinase |
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TAS |
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RGD |
PMID:7773298 |
RGD:1298615 |
NCBI chr13:68,673,702...68,770,846
Ensembl chr13:68,673,722...68,839,742
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G |
Ace |
angiotensin I converting enzyme |
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ISO |
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RGD |
PMID:19761684 |
RGD:11039056 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Agt |
angiotensinogen |
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ISO |
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RGD |
PMID:19761684 |
RGD:11039056 |
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
protein:increased phosphorylation:blood |
RGD |
PMID:17900686 |
RGD:13674160 |
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Alox5 |
arachidonate 5-lipoxygenase |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19503090 PMID:19823023 |
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NCBI chr 4:149,531,329...149,578,696
Ensembl chr 4:149,531,515...149,578,743
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G |
Bcl2l1 |
Bcl2-like 1 |
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ISO |
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RGD |
PMID:20728382 |
RGD:11353850 |
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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Bcr |
BCR activator of RhoGEF and GTPase |
susceptibility treatment disease_progression |
ISO |
DNA:gene fusion CTD Direct Evidence: marker/mechanism BCR/ABL fusion DNA:methylation: : DNA:translocations:cds: |
CTD OMIM RGD |
PMID:15604220 PMID:18673174 PMID:21908430 PMID:33070465 PMID:3101769 PMID:12613514 PMID:25133686 PMID:12067277 PMID:7683349 PMID:2683759 PMID:1362728 More...
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RGD:1600510, RGD:41404631, RGD:13674161, RGD:14392796, RGD:11038783, RGD:11038776, RGD:11038775 |
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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Birc5 |
baculoviral IAP repeat-containing 5 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16254145 |
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NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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G |
Bmal1 |
basic helix-loop-helix ARNT like 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16999817 |
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NCBI chr 1:167,331,756...167,430,235
Ensembl chr 1:167,331,633...167,430,231
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
PMID:24033266 PMID:24446311 PMID:25157968 PMID:26619011 |
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Car9 |
carbonic anhydrase 9 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17157168 |
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NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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G |
Casp6 |
caspase 6 |
treatment |
ISO |
human cells in mouse model |
RGD |
PMID:31952546 |
RGD:151667904 |
NCBI chr 2:218,466,063...218,478,503
Ensembl chr 2:218,466,076...218,478,502
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G |
Cd36 |
CD36 molecule |
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ISO |
protein:increased expression:platelet, cell surface |
RGD |
PMID:8555064 |
RGD:11041099 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cd40 |
CD40 molecule |
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ISO |
protein:increased expression:peripheral blood, dendritic cell (human) |
RGD |
PMID:16527350 |
RGD:11520794 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
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ISO |
Protein:increased expression:Blood, common myeloid progenitor, CD34-positive |
RGD |
PMID:20200561 |
RGD:13673878 |
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
treatment |
ISO |
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RGD |
PMID:16533530 |
RGD:11251777 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2a_v1 |
cyclin-dependent kinase inhibitor 2A, variant 1 |
treatment |
ISO |
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RGD |
PMID:16533530 |
RGD:11251777 |
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G |
Cdkn2a_v2 |
cyclin-dependent kinase inhibitor 2A, variant 2 |
treatment |
ISO |
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RGD |
PMID:16533530 |
RGD:11251777 |
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G |
Chordc1 |
cysteine and histidine rich domain containing 1 |
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ISS |
OMIM:608232 |
MouseDO |
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NCBI chr 8:15,374,356...15,398,436
Ensembl chr 8:15,374,471...15,399,162
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G |
Crkl |
CRK like proto-oncogene, adaptor protein |
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ISO |
protein:increased phosphorylation:blood |
RGD |
PMID:17900686 |
RGD:13674160 |
NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
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G |
Cry1 |
cryptochrome circadian regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16999817 |
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NCBI chr 7:18,529,823...18,594,092
Ensembl chr 7:18,529,823...18,594,091
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G |
Cry2 |
cryptochrome circadian regulator 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16999817 |
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NCBI chr 3:78,374,995...78,405,001
Ensembl chr 3:78,374,995...78,404,965
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
treatment |
ISO |
DNA:polymorphism:cds:4889A>G(p.I462V)(human) |
RGD |
PMID:26464823 |
RGD:11352729 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp3a9 |
cytochrome P450, family 3, subfamily a, polypeptide 9 |
susceptibility treatment |
ISO |
DNA:polymorphism:intron :6986A>G (human) DNA:SNP:: (rs776746) (human) |
RGD |
PMID:21039054 PMID:19584153 |
RGD:11353798, RGD:11353810 |
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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G |
Dnmt1 |
DNA methyltransferase 1 |
disease_progression |
ISO |
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RGD |
PMID:11222358 |
RGD:9588667 |
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
disease_progression |
ISO |
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RGD |
PMID:11222358 |
RGD:9588667 |
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
disease_progression |
ISO |
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RGD |
PMID:11222358 |
RGD:9588667 |
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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G |
E2f1 |
E2F transcription factor 1 |
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ISO |
mRNA:increased expression:blood |
RGD |
PMID:26460262 |
RGD:13674165 |
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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ISO |
DNA:polymorphism: :p.K751Q (human) DNA:polymorphism: :p.K751Q (rs13181) (human) |
RGD |
PMID:24955348 PMID:25311495 |
RGD:11252188, RGD:11060463 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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ISO |
mRNA:increased expression:bone marrow mononuclear cells (human) |
RGD |
PMID:27070757 |
RGD:13782088 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
Fas |
Fas cell surface death receptor |
susceptibility |
ISO |
DNA:polymorphisms, haplotype:promoter: -670 G>A, -1377 G>A (human) |
RGD |
PMID:26563376 |
RGD:11049146 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg |
Fas ligand |
susceptibility |
ISO |
DNA:polymorphism:promoter: -844 T>C(human) |
RGD |
PMID:26563376 |
RGD:11049146 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fcgr2a |
Fc gamma receptor 2A |
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ISO |
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RGD |
PMID:8632671 |
RGD:11344957 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
mRNA:increased expression:peripheral blood (human) |
RGD |
PMID:14562121 |
RGD:36947884 |
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Gab2 |
GRB2-associated binding protein 2 |
disease_progression |
ISO |
protein:increased expression:bone marrow |
RGD |
PMID:22858987 |
RGD:13699433 |
NCBI chr 1:151,429,844...151,625,708
Ensembl chr 1:151,429,695...151,625,031
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G |
Gpx1 |
glutathione peroxidase 1 |
no_association |
ISO |
DNA:polymorphism: :p.P198L (human) |
RGD |
PMID:25436036 |
RGD:11352762 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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G |
Gstp1 |
glutathione S-transferase pi 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20843134 |
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NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Hes1 |
hes family bHLH transcription factor 1 |
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IMP |
rat gene in a mouse model |
RGD |
PMID:19861684 |
RGD:9685380 |
NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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G |
Hmmr |
hyaluronan-mediated motility receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17157168 |
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NCBI chr10:25,132,933...25,163,029
Ensembl chr10:25,132,977...25,163,060
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G |
Hmox1 |
heme oxygenase 1 |
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ISO |
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RGD |
PMID:22139798 |
RGD:10755566 |
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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G |
Hspa5 |
heat shock protein family A (Hsp70) member 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23777986 |
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NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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G |
Il10 |
interleukin 10 |
treatment |
ISO |
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RGD |
PMID:20305143 |
RGD:11049154 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il1b |
interleukin 1 beta |
severity |
ISO |
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RGD |
PMID:7949186 |
RGD:10450889 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
severity |
ISO |
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RGD |
PMID:7949186 |
RGD:10450889 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Insl6 |
insulin-like 6 |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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G |
Jak2 |
Janus kinase 2 |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
PMID:2278970 PMID:3122217 PMID:8439212 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:18316791 PMID:19018267 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20921462 PMID:20921465 PMID:20949621 PMID:21044336 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22235099 PMID:22407852 PMID:22683711 PMID:22897852 PMID:23096712 PMID:23406027 PMID:24033266 PMID:24138715 PMID:25157968 PMID:25741868 PMID:26242988 PMID:26372703 PMID:28492532 PMID:29298116 PMID:31891627 More...
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NCBI chr 4:178,185,418...178,218,484
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G |
Mapk14 |
mitogen activated protein kinase 14 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:16818652 |
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NCBI chr20:6,749,646...6,810,590
Ensembl chr20:6,749,670...6,810,589
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G |
Mdm2 |
MDM2 proto-oncogene |
onset |
ISO |
DNA:SNP:promoter:rs2279744(human) |
RGD |
PMID:23818300 |
RGD:13703044 |
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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G |
Mir150 |
microRNA 150 |
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ISO |
miRNA:decreased expression:leukocytes |
RGD |
PMID:21501493 |
RGD:13782140 |
NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
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G |
Mlf1 |
myeloid leukemia factor 1 |
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ISO |
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RGD |
PMID:15659732 |
RGD:1600902 |
NCBI chr 2:151,648,492...151,681,654
Ensembl chr 2:151,648,511...151,681,652
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G |
Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
DNA:SNPs: :677C>T, 1298A>C(human) |
RGD |
PMID:17156840 |
RGD:10449408 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Ncstn |
nicastrin |
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ISS |
OMIM:608232 |
MouseDO |
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NCBI chr13:84,530,442...84,546,454
Ensembl chr13:84,530,440...84,546,454
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G |
Npm1 |
nucleophosmin 1 |
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ISO |
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RGD |
PMID:15659732 |
RGD:1600902 |
NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
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ISO |
DNA:SNP: :609C>T (human) |
RGD |
PMID:16235982 |
RGD:10769357 |
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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G |
Nras |
NRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
PMID:2278970 PMID:2674680 PMID:3122217 PMID:8120410 PMID:12460918 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18948947 PMID:19075190 PMID:19657110 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21305640 PMID:21729679 PMID:21829508 PMID:22407852 PMID:23134356 PMID:23334668 PMID:23414587 PMID:23515407 PMID:23614898 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28594414 PMID:30417923 PMID:32888943 More...
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NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Pecam1 |
platelet and endothelial cell adhesion molecule 1 |
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ISO |
protein:increased expression:serum (human) |
RGD |
PMID:16521495 |
RGD:11552593 |
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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G |
Per1 |
period circadian regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16999817 |
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NCBI chr10:53,800,126...53,814,963
Ensembl chr10:53,805,535...53,814,431
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G |
Per2 |
period circadian regulator 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16999817 |
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NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
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G |
Per3 |
period circadian regulator 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16999817 |
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NCBI chr 5:161,460,228...161,495,404
Ensembl chr 5:161,459,533...161,495,607
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G |
Pramex1 |
PRAME like, X-linked 1 |
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ISO |
mRNA:increased expression:mononuclear cell (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17157168 PMID:20838376 |
RGD:11535035 |
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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G |
Prtn3 |
proteinase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17157168 |
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NCBI chr 7:9,822,123...9,831,300
Ensembl chr 7:9,822,122...9,831,944
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G |
RT1-Ba |
RT1 class II, locus Ba |
onset |
ISO |
DNA:polymorphism, haplotype |
RGD |
PMID:17893434 PMID:17387388 |
RGD:11041777, RGD:11041781 |
NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744
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G |
RT1-Bb |
RT1 class II, locus Bb |
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ISO |
DNA:polymorphism, haplotype |
RGD |
PMID:17893434 |
RGD:11041777 |
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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G |
Sf3b1 |
splicing factor 3b, subunit 1 |
|
ISO |
ClinVar Annotator: match by term: Chronic myelogenous leukemia |
ClinVar |
PMID:23395771 PMID:25741868 |
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NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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G |
Sh2b3 |
SH2B adaptor protein 3 |
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ISS |
OMIM:608232 |
MouseDO |
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NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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G |
Sipa1 |
signal-induced proliferation-associated 1 |
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ISS |
OMIM:608232 |
MouseDO |
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NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
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G |
Smad4 |
SMAD family member 4 |
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ISO |
mRNA:decreased expression:blood |
RGD |
PMID:29951173 |
RGD:13782079 |
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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G |
Srsf1 |
serine and arginine rich splicing factor 1 |
|
ISO |
mRNA:increased expression:peripheral blood mononuclear cell (human) |
RGD |
PMID:23228155 |
RGD:11038774 |
NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
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G |
Stat5a |
signal transducer and activator of transcription 5A |
disease_progression treatment |
ISO |
human cells in mouse model mRNA:increased expression:PBMC (human) |
RGD |
PMID:16522816 PMID:31952546 PMID:31952546 |
RGD:151667903, RGD:151667904, RGD:151667904 |
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
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G |
Tert |
telomerase reverse transcriptase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17157168 PMID:15068898 |
RGD:11038663 |
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
protein:increased expression:serum |
RGD |
PMID:29951173 |
RGD:13782079 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Usp15 |
ubiquitin specific peptidase 15 |
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ISO |
mRNA, protein:decreased expression:PBMC (human) |
RGD |
PMID:31952546 |
RGD:151667904 |
NCBI chr 7:58,756,714...58,848,778
Ensembl chr 7:58,756,872...58,848,721
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G |
Vegfa |
vascular endothelial growth factor A |
susceptibility |
ISO |
DNA:SNP,haplotype: :(rs6999470),(rs833061)(human) |
RGD |
PMID:19141860 |
RGD:13432135 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Wt1 |
WT1 transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17157168 |
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NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
DNA:SNP:cds :p.R194W(human) |
RGD |
PMID:26250462 |
RGD:11081180 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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G |
Asxl1 |
ASXL transcriptional regulator 1 |
disease_progression |
ISO |
DNA:mutations:exon: |
RGD |
PMID:20880116 |
RGD:11038767 |
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
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ISO |
DNA:altered methylation:5'UTR: |
RGD |
PMID:12750705 |
RGD:11252180 |
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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G |
Csf3r |
colony stimulating factor 3 receptor |
disease_progression |
ISO |
DNA:mutations:multiples: |
RGD |
PMID:23774674 |
RGD:10450469 |
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
severity |
ISO |
DNA:mutations:multiple (human) |
RGD |
PMID:21339759 |
RGD:10450882 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
Kdm6a |
lysine demethylase 6A |
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ISS |
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MouseDO |
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NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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G |
Nras |
NRAS proto-oncogene, GTPase |
onset |
ISO |
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RGD |
PMID:26082490 |
RGD:11535058 |
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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G |
Tet2 |
tet methylcytosine dioxygenase 2 |
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ISO |
DNA:missense mutations, nonsense mutations, splice-site mutations:multiple |
RGD |
PMID:20693430 |
RGD:11038679 |
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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G |
Csf3r |
colony stimulating factor 3 receptor |
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ISO |
DNA:mutation:exon:p.T618I(human) |
RGD |
PMID:24081659 PMID:23604229 |
RGD:10450482, RGD:10450483 |
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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G |
Cad |
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
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G |
Dhodh |
dihydroorotate dehydrogenase (quinone) |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
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G |
Umps |
uridine monophosphate synthetase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:38827 |
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NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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G |
Atg2b |
autophagy related 2B |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015
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G |
Bdkrb1 |
bradykinin receptor B1 |
|
ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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G |
Bdkrb2 |
bradykinin receptor B2 |
|
ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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G |
C6h14orf132 |
similar to human chromosome 14 open reading frame 132 |
|
ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
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NCBI chr 6:124,365,466...124,398,449
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G |
Calr |
calreticulin |
severity |
ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 DNA:mutations:multiple (human) |
OMIM ClinVar RGD |
PMID:24325356 PMID:24325359 PMID:25741868 PMID:24496303 PMID:25860380 |
RGD:11352751, RGD:11352747 |
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G |
Cd36 |
CD36 molecule |
|
ISO |
protein:increased expression:platelet, cell surface |
RGD |
PMID:8555064 |
RGD:11041099 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Cd40lg |
CD40 ligand |
|
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:22196954 |
RGD:11344979 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Elane |
elastase, neutrophil expressed |
|
ISO |
protein:increased expression:plasma: |
RGD |
PMID:18768782 |
RGD:10450556 |
NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100
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G |
Fgf2 |
fibroblast growth factor 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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G |
Gskip |
GSK3B interacting protein |
|
ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
|
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NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100
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G |
Jak2 |
Janus kinase 2 |
severity |
ISO ISS |
DNA:mutation: :p.V617F (human) OMIM:187950 | OMIM:601977 | OMIM:614521 CTD Direct Evidence: marker/mechanism |
MouseDO CTD RGD |
PMID:15781101 PMID:15858187 PMID:16484586 PMID:16896569 PMID:19154659 PMID:19636672 PMID:20434300 PMID:21942426 PMID:23130336 More...
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RGD:10449178 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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G |
Mpl |
MPL proto-oncogene, thrombopoietin receptor |
|
ISO |
DNA:missense mutation:cds:pS505N (human) ClinVar Annotator: match by term: Essential thrombocythemia | ClinVar Annotator: match by term: Thrombocythemia 1 mRNA, protein:decreased expression:blood, platelet (human) |
ClinVar RGD |
PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 PMID:15269348 PMID:15531462 PMID:16199547 PMID:16470591 PMID:17054430 PMID:17666371 PMID:18090929 PMID:18422784 PMID:18451306 PMID:18528423 PMID:19036112 PMID:19483125 PMID:19608689 PMID:20151976 PMID:20188141 PMID:21489838 PMID:23970983 PMID:24033266 PMID:24438083 PMID:24728327 PMID:25538044 PMID:25741868 PMID:26316487 PMID:27069254 PMID:28492532 PMID:28697167 PMID:31064749 PMID:35776903 PMID:14764528 PMID:11122159 More...
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RGD:10449014, RGD:10449016 |
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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G |
Myb |
MYB proto-oncogene, transcription factor |
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ISS |
OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521 |
MouseDO |
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NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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G |
Pdgfa |
platelet derived growth factor subunit A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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G |
Pdgfb |
platelet derived growth factor subunit B |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Sh2b3 |
SH2B adaptor protein 3 |
|
ISO |
ClinVar Annotator: match by term: Idiopathic thrombocythemia | ClinVar Annotator: match by term: THROMBOCYTOSIS 1 | ClinVar Annotator: match by term: Thrombocythemia 1 |
OMIM ClinVar |
PMID:15705783 PMID:20404132 PMID:23812944 PMID:25741868 PMID:27651169 PMID:28484264 PMID:29590070 PMID:31298594 More...
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NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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G |
Tcl1a |
Tcl1 family Akt coactivator A |
|
ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
|
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NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
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G |
Tgfb1 |
transforming growth factor, beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15682418 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Thpo |
thrombopoietin |
|
ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 DNA:mutation:splice junction: |
OMIM ClinVar RGD |
PMID:7772529 PMID:9425899 PMID:9694695 PMID:10583217 PMID:16199547 PMID:19553636 PMID:22194398 PMID:22453305 PMID:25741868 PMID:28492532 PMID:28955303 PMID:32430933 PMID:36226497 PMID:9425899 More...
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RGD:1580083 |
Ensembl chr11:80,182,820...80,188,167
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G |
Tunar |
TCL1 upstream neural differentiation-associated RNA |
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ISO |
ClinVar Annotator: match by term: Thrombocythemia 1 |
ClinVar |
|
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NCBI chr 6:124,245,949...124,293,440
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G |
Vcam1 |
vascular cell adhesion molecule 1 |
|
ISO |
protein:increased expression:serum: |
RGD |
PMID:24434346 |
RGD:11354980 |
NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958
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G |
Vwf |
von Willebrand factor |
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ISO |
|
RGD |
PMID:25876231 |
RGD:11073823 |
NCBI chr 4:158,360,152...158,491,539
Ensembl chr 4:158,360,152...158,491,539
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G |
Irf8 |
interferon regulatory factor 8 |
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ISS |
OMIM:600080 |
MouseDO |
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NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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G |
Gata1 |
GATA binding protein 1 |
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ISO |
|
RGD |
PMID:12149188 |
RGD:10450737 |
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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G |
Sh2b3 |
SH2B adaptor protein 3 |
|
ISO |
ClinVar Annotator: match by term: Familial myelofibrosis |
ClinVar |
PMID:25741868 |
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NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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G |
Vps45 |
vacuolar protein sorting 45 homolog |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23599270 |
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NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295
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G |
Tbxas1 |
thromboxane A synthase 1 |
|
ISO |
ClinVar Annotator: match by term: Ghosal hematodiaphyseal dysplasia | ClinVar Annotator: match by term: Ghosal hematodiaphyseal syndrome | ClinVar Annotator: match by term: TBXAS1-related condition CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:8702713 PMID:17203301 PMID:18264100 PMID:19114962 PMID:22735388 PMID:25741868 PMID:27156553 PMID:28492532 PMID:28748566 PMID:29068549 PMID:33185009 PMID:33244729 PMID:33595912 PMID:35395429 More...
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NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
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G |
Lars2 |
leucyl-tRNA synthetase 2, mitochondrial |
|
ISO |
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia |
OMIM ClinVar |
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28832386 PMID:30737337 PMID:32442335 PMID:32747562 More...
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NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
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G |
Slc11a2 |
solute carrier family 11 member 2 |
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ISO |
ClinVar Annotator: match by term: SLC11A2-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 PMID:35457224 |
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NCBI chr 7:131,503,076...131,540,246
Ensembl chr 7:131,503,081...131,540,145
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G |
Akap12 |
A-kinase anchoring protein 12 |
disease_progression |
ISO |
|
RGD |
PMID:26891149 |
RGD:14348967 |
NCBI chr 1:40,730,123...40,819,863
Ensembl chr 1:40,730,123...40,819,886
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G |
Arhgap26 |
Rho GTPase activating protein 26 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia |
OMIM CTD ClinVar |
PMID:10908648 |
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NCBI chr18:30,835,806...31,237,945
Ensembl chr18:30,838,671...31,235,194
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G |
Asxl1 |
ASXL transcriptional regulator 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia |
CTD ClinVar |
PMID:20880116 PMID:21576631 PMID:21881046 PMID:22031865 PMID:22058207 PMID:22489043 PMID:23018865 PMID:23619563 PMID:23690417 PMID:24255920 PMID:24442206 PMID:24458439 PMID:24496303 PMID:24695057 PMID:25596267 PMID:25652455 PMID:25741868 PMID:26457647 PMID:27276561 PMID:27895058 PMID:28492532 PMID:30013160 PMID:32581362 More...
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|
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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G |
Cbl |
Cbl proto-oncogene |
|
ISO |
DNA:mutations:cds: ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia CTD Direct Evidence: marker/mechanism |
ClinVar OMIM CTD RGD |
PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 PMID:19387008 PMID:19571318 PMID:19620960 PMID:19901108 PMID:20543203 PMID:20555362 PMID:20619386 PMID:20644105 PMID:20694012 PMID:20880116 PMID:20951944 PMID:20955399 PMID:21681191 PMID:21828135 PMID:21901340 PMID:22131879 PMID:22190897 PMID:22246246 PMID:22315502 PMID:22733026 PMID:23010802 PMID:23690417 PMID:23696637 PMID:23823657 PMID:24033266 PMID:24451042 PMID:24728327 PMID:24803665 PMID:25178484 PMID:25224413 PMID:25283271 PMID:25358541 PMID:25741868 PMID:25939664 PMID:25952305 PMID:26457647 PMID:27069254 PMID:27609087 PMID:28414188 PMID:28492532 PMID:28589114 PMID:28957739 PMID:29296819 PMID:29696744 PMID:31057598 PMID:32933826 PMID:33318624 PMID:33337535 PMID:33627783 PMID:33897294 PMID:35236052 PMID:19571318 More...
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RGD:11038806 |
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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G |
Csf2 |
colony stimulating factor 2 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:22315502 PMID:9389708 |
RGD:10449526 |
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26457647 |
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NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26457647 |
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NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
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ISS |
OMIM:607785 |
MouseDO |
|
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NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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G |
Gata2 |
GATA binding protein 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26457647 |
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NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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G |
Jak3 |
Janus kinase 3 |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23832011 PMID:23832011 |
RGD:11069125 |
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM:607785 |
CTD ClinVar MouseDO |
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:7773929 PMID:8439212 PMID:12460918 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17332249 PMID:17384584 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18594010 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 PMID:20978259 PMID:21044336 PMID:21063026 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22392911 PMID:22407852 PMID:22499344 PMID:22571758 PMID:22683711 PMID:22722830 PMID:22734028 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23182985 PMID:23255105 PMID:23325582 PMID:23406027 PMID:24033266 PMID:24138715 PMID:24558511 PMID:24720724 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25705018 PMID:25741868 PMID:25808193 PMID:26242988 PMID:26372703 PMID:26457647 PMID:26521233 PMID:26623049 PMID:28492532 PMID:29298116 PMID:30443000 PMID:31891627 PMID:32581362 PMID:35794233 More...
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|
NCBI chr 4:178,185,418...178,218,484
|
|
G |
Nf1 |
neurofibromin 1 |
|
ISO ISS |
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM:607785 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
PMID:1511985 PMID:1568246 PMID:1568247 PMID:1757093 PMID:1783401 PMID:2114220 PMID:2948975 PMID:7581973 PMID:7607663 PMID:7633431 PMID:7649559 PMID:7655472 PMID:7874161 PMID:7903661 PMID:7904209 PMID:7981679 PMID:7981692 PMID:8069310 PMID:8099055 PMID:8264648 PMID:8385067 PMID:8437860 PMID:8499944 PMID:8499945 PMID:8544190 PMID:8664912 PMID:8669813 PMID:8829638 PMID:8837715 PMID:8845843 PMID:8957181 PMID:9003501 PMID:9042399 PMID:9150739 PMID:9180088 PMID:9195229 PMID:9219873 PMID:9298829 PMID:9385374 PMID:9463322 PMID:9475595 PMID:9536098 PMID:9639526 PMID:9783703 PMID:10076878 PMID:10336779 PMID:10494088 PMID:10543400 PMID:10607834 PMID:10678181 PMID:10712197 PMID:10721668 PMID:10726756 PMID:10862084 PMID:10874316 PMID:10980545 PMID:11137998 PMID:11258625 PMID:11292340 PMID:11431704 PMID:11704931 PMID:11726231 PMID:11735023 PMID:11857752 PMID:12095621 PMID:12112660 PMID:12483293 PMID:12522551 PMID:12552569 PMID:12566521 PMID:12687660 PMID:12807981 PMID:12822827 PMID:12872266 PMID:14517963 PMID:14569132 PMID:14722917 PMID:15060124 PMID:15146469 PMID:15207265 PMID:15523642 PMID:15846561 PMID:16199547 PMID:16380919 PMID:16461335 PMID:16479075 PMID:16513807 PMID:16542390 PMID:16544997 PMID:16773574 PMID:16786508 PMID:16835897 PMID:16870183 PMID:16937374 PMID:16944272 PMID:16961930 PMID:17114577 PMID:17160901 PMID:17295913 PMID:17311297 PMID:17406642 PMID:17426081 PMID:17576681 PMID:17889038 PMID:17914445 PMID:18041031 PMID:18183640 PMID:18484666 PMID:18546366 PMID:18800150 PMID:19061981 PMID:19076627 PMID:19120036 PMID:19142971 PMID:19738042 PMID:19845691 PMID:19935827 PMID:20301288 PMID:20601955 PMID:20602485 PMID:21089070 PMID:21278392 PMID:21280148 PMID:21354044 PMID:21362601 PMID:21520333 PMID:21532985 PMID:21838856 PMID:22034633 PMID:22108604 PMID:22155606 PMID:22190595 PMID:22315502 PMID:22608206 PMID:22703879 PMID:22807134 PMID:22925204 PMID:22965773 PMID:23047742 PMID:23244495 PMID:23404336 PMID:23460398 PMID:23637863 PMID:23656349 PMID:23668869 PMID:23758643 PMID:23781326 PMID:23913538 PMID:24033266 PMID:24218100 PMID:24232412 PMID:24357598 PMID:24413922 PMID:24654934 PMID:24694336 PMID:24711935 PMID:24728327 PMID:24789688 PMID:24922668 PMID:24932921 PMID:25074460 PMID:25324867 PMID:25325900 PMID:25326637 PMID:25370043 PMID:25403449 PMID:25480383 PMID:25525159 PMID:25541118 PMID:25624686 PMID:25741868 PMID:25788518 PMID:25810463 PMID:25925892 PMID:25966637 PMID:26056819 PMID:26088551 PMID:26178382 PMID:26457647 PMID:26457648 PMID:26467025 PMID:26478990 PMID:26509978 PMID:26514327 PMID:26635368 PMID:26740943 PMID:26758488 PMID:26840085 PMID:26962827 PMID:26969325 PMID:27060315 PMID:27069254 PMID:27074763 PMID:27322474 PMID:27716896 PMID:27838393 PMID:27980226 PMID:28008555 PMID:28068329 PMID:28135719 PMID:28152038 PMID:28422438 PMID:28492532 PMID:28518168 PMID:28548933 PMID:28706617 PMID:28873162 PMID:28961165 PMID:28976792 PMID:29089047 PMID:29146900 PMID:29290338 PMID:29415745 PMID:29449315 PMID:29471550 PMID:29483232 PMID:29522274 PMID:29588991 PMID:29618358 PMID:29620724 PMID:29673180 PMID:29685074 PMID:29849115 PMID:29872168 PMID:29914388 PMID:29926981 PMID:30014477 PMID:30111351 PMID:30124220 PMID:30190611 PMID:30287823 PMID:30290804 PMID:30308447 PMID:30530636 PMID:31159747 PMID:31160754 PMID:31308404 PMID:31347283 PMID:31370276 PMID:31371350 PMID:31443423 PMID:31476437 PMID:31533651 PMID:31533797 PMID:31573083 PMID:31595648 PMID:31717729 PMID:31730495 PMID:31766501 PMID:31776437 PMID:32005694 PMID:32056211 PMID:32107864 PMID:32123317 PMID:32126153 PMID:32461654 PMID:32533764 PMID:32566746 PMID:32575496 PMID:32581362 PMID:32873259 PMID:32980694 PMID:33046013 PMID:33210232 PMID:33372952 PMID:33471991 PMID:33540839 PMID:33674644 PMID:33804961 PMID:33919865 PMID:34080803 PMID:34418705 PMID:34427956 PMID:34860164 PMID:34988040 PMID:35698239 PMID:36988593 PMID:37149759 PMID:125305868 More...
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|
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
|
|
G |
Nras |
NRAS proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia |
CTD ClinVar |
PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3122217 PMID:8120410 PMID:10598665 PMID:12460918 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18794081 PMID:18948947 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19966803 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21163920 PMID:21263000 PMID:21305640 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:23325582 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23708912 PMID:24284627 PMID:24806883 PMID:25157968 PMID:25741868 PMID:26457647 PMID:26619011 PMID:26980726 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:29692343 PMID:33681212 PMID:36130886 More...
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|
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
|
|
G |
Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
|
ISO ISS |
ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia OMIM:607785 DNA:missense mutations:cds:multiple (human) CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD RGD |
PMID:4746100 PMID:9491886 PMID:9536098 PMID:9751050 PMID:11704759 PMID:11992261 PMID:12058348 PMID:12161469 PMID:12161596 PMID:12325025 PMID:12529711 PMID:12634870 PMID:12717436 PMID:12739139 PMID:12826400 PMID:12900909 PMID:12960218 PMID:13908956 PMID:14634749 PMID:14644997 PMID:14676626 PMID:14961557 PMID:14974085 PMID:14982869 PMID:15001945 PMID:15009076 PMID:15121796 PMID:15240615 PMID:15248152 PMID:15273746 PMID:15385933 PMID:15389709 PMID:15520399 PMID:15539800 PMID:15604238 PMID:15644411 PMID:15689434 PMID:15710330 PMID:15712196 PMID:15723289 PMID:15725481 PMID:15761018 PMID:15834506 PMID:15842656 PMID:15889278 PMID:15928039 PMID:15929108 PMID:15940693 PMID:15948193 PMID:15956085 PMID:15985475 PMID:15987685 PMID:15996221 PMID:16053901 PMID:16115145 PMID:16124853 PMID:16166557 PMID:16263833 PMID:16338218 PMID:16358218 PMID:16369799 PMID:16377799 PMID:16399795 PMID:16461457 PMID:16488201 PMID:16498234 PMID:16518851 PMID:16523510 PMID:16533526 PMID:16631468 PMID:16638574 PMID:16643459 PMID:16679933 PMID:16733669 PMID:16804314 PMID:16830086 PMID:16892325 PMID:16924159 PMID:16987887 PMID:16990350 PMID:17020470 PMID:17052965 PMID:17143285 PMID:17177198 PMID:17222357 PMID:17227708 PMID:17339163 PMID:17361219 PMID:17497712 PMID:17515436 PMID:17546245 PMID:17576681 PMID:17641779 PMID:17661820 PMID:17875892 PMID:17910045 PMID:17935252 PMID:17942397 PMID:17972951 PMID:18241070 PMID:18253957 PMID:18331608 PMID:18372317 PMID:18373317 PMID:18378677 PMID:18454468 PMID:18470943 PMID:18559669 PMID:18562489 PMID:18678287 PMID:18758896 PMID:18759865 PMID:18849586 PMID:18854871 PMID:18925961 PMID:19008228 PMID:19017799 PMID:19020799 PMID:19047918 PMID:19054014 PMID:19061217 PMID:19063751 PMID:19077116 PMID:19120036 PMID:19125092 PMID:19133693 PMID:19174044 PMID:19179468 PMID:19251646 PMID:19260062 PMID:19352411 PMID:19509418 PMID:19568997 PMID:19706403 PMID:19725129 PMID:19737548 PMID:19768645 PMID:19773259 PMID:19798502 PMID:19825837 PMID:19835954 PMID:19864201 PMID:20030748 PMID:20112233 PMID:20186801 PMID:20237506 PMID:20301303 PMID:20301557 PMID:20308328 PMID:20383758 PMID:20493809 PMID:20535210 PMID:20578946 PMID:20651068 PMID:20718194 PMID:20883402 PMID:20954246 PMID:20979190 PMID:21204800 PMID:21321969 PMID:21339643 PMID:21340158 PMID:21365175 PMID:21365683 PMID:21407260 PMID:21526175 PMID:21533187 PMID:21548061 PMID:21555152 PMID:21567923 PMID:21590266 PMID:21747628 PMID:21784453 PMID:21901340 PMID:21910226 PMID:21910245 PMID:21930766 PMID:21934682 PMID:22190897 PMID:22315187 PMID:22315502 PMID:22371576 PMID:22411627 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22551697 PMID:22555271 PMID:22585553 PMID:22681964 PMID:22711529 PMID:22781091 PMID:22822385 PMID:22847776 PMID:22848035 PMID:22923420 PMID:23297836 PMID:23317994 PMID:23321623 PMID:23334666 PMID:23334668 PMID:23446178 PMID:23457302 PMID:23513489 PMID:23584145 PMID:23624134 PMID:23673659 PMID:23726368 PMID:23756559 PMID:23771920 PMID:23813970 PMID:23825065 PMID:23832011 PMID:24033266 PMID:24037001 PMID:24039098 PMID:24072241 PMID:24150203 PMID:24183200 PMID:24219368 PMID:24401936 PMID:24451042 PMID:24458522 PMID:24628801 PMID:24718990 PMID:24728327 PMID:24754368 PMID:24767283 PMID:24775816 PMID:24803665 PMID:24820750 PMID:24891296 PMID:24935154 PMID:25097206 PMID:25156961 PMID:25326637 PMID:25337068 PMID:25383899 PMID:25395418 PMID:25425531 PMID:25500235 PMID:25533962 PMID:25544017 PMID:25585602 PMID:25595571 PMID:25612910 PMID:25722345 PMID:25731833 PMID:25741868 PMID:25741869 PMID:25742478 PMID:25862627 PMID:25884655 PMID:25912702 PMID:25917897 PMID:26084119 PMID:26242988 PMID:26286251 PMID:26337637 PMID:26372199 PMID:26456833 PMID:26457647 PMID:26467025 PMID:26495027 PMID:26556299 PMID:26607044 PMID:26619011 PMID:26645620 PMID:26673822 PMID:26783207 PMID:26785492 PMID:26817465 PMID:26822237 PMID:26918529 PMID:27038324 PMID:27069254 PMID:27104176 PMID:27117572 PMID:27153395 PMID:27193571 PMID:27238887 PMID:27276561 PMID:27353043 PMID:27484170 PMID:27521173 PMID:27562378 PMID:27626068 PMID:27659786 PMID:27783593 PMID:28051113 PMID:28074573 PMID:28098151 PMID:28135719 PMID:28363362 PMID:28483241 PMID:28492532 PMID:28628100 PMID:28650561 PMID:28681392 PMID:28748642 PMID:28921562 PMID:28957739 PMID:28991257 PMID:29038591 PMID:29057136 PMID:29146883 PMID:29214238 PMID:29263817 PMID:29276006 PMID:29346770 PMID:29356064 PMID:29493581 PMID:29517769 PMID:29555671 PMID:29620724 PMID:29693080 PMID:29703613 PMID:29848529 PMID:29907801 PMID:29988639 PMID:30025578 PMID:30029678 PMID:30050098 PMID:30055033 PMID:30287924 PMID:30294303 PMID:30311386 PMID:30355600 PMID:30410095 PMID:30417923 PMID:30455982 PMID:30515541 PMID:30541462 PMID:30602027 PMID:30604644 PMID:30692697 PMID:30732632 PMID:30784236 PMID:30868567 PMID:30896080 PMID:31040167 PMID:31064749 PMID:31164752 PMID:31219622 PMID:31263281 PMID:31370276 PMID:31560489 PMID:31564432 PMID:31573083 PMID:31637070 PMID:32059087 PMID:32164556 PMID:32233106 PMID:32371413 PMID:32410215 PMID:32561839 PMID:32581362 PMID:32719394 PMID:32746448 PMID:32824488 PMID:32860008 PMID:32901917 PMID:33091040 PMID:33318624 PMID:34006472 PMID:34008892 PMID:34194850 PMID:34356170 PMID:34411415 PMID:35418823 PMID:35885957 PMID:35904599 PMID:35979676 PMID:36135330 PMID:36349709 PMID:36474027 PMID:36567979 PMID:37019085 PMID:37568403 PMID:12717436 More...
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RGD:11066398 |
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Rac2 |
Rac family small GTPase 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26457648 |
|
NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720
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G |
Rras |
RAS related |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26457647 |
|
NCBI chr 1:95,500,582...95,504,362
Ensembl chr 1:95,500,566...95,504,357
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G |
Rras2 |
RAS related 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26457647 |
|
NCBI chr 1:168,233,693...168,303,111
Ensembl chr 1:168,233,693...168,303,111
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G |
Runx1 |
RUNX family transcription factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26457647 |
|
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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G |
Setbp1 |
SET binding protein 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23832011 PMID:26457647 |
|
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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G |
Sh2b3 |
SH2B adaptor protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26457647 |
|
NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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G |
Zrsr2 |
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26457647 |
|
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
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G |
Jak3 |
Janus kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Leukemoid reaction |
ClinVar |
PMID:18397343 PMID:20400977 PMID:28492532 |
|
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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|
G |
Samd9l |
sterile alpha motif domain containing 9 like |
|
ISO |
ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 1 | ClinVar Annotator: match by term: Monosomy 7 of bone marrow |
OMIM ClinVar |
PMID:2569483 PMID:25741868 PMID:27259050 PMID:28202457 PMID:28492532 PMID:28570036 PMID:29146883 PMID:30046003 PMID:33884299 PMID:34621053 More...
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|
NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415
|
|
|
G |
Samd9 |
sterile alpha motif domain containing 9 |
|
ISO |
ClinVar Annotator: match by term: Monosomy 7 myelodysplasia and leukemia syndrome 2 |
OMIM ClinVar |
PMID:2569483 PMID:25741868 PMID:28346228 PMID:28487541 PMID:28492532 PMID:29506479 PMID:29535429 PMID:30046003 PMID:30322869 PMID:31231135 PMID:33237688 PMID:34621053 More...
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|
NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322
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|
|
G |
Abcg2 |
ATP binding cassette subfamily G member 2 |
treatment |
ISO |
|
RGD |
PMID:26314844 PMID:16917002 |
RGD:11081075, RGD:11081144 |
NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
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|
G |
Ace |
angiotensin I converting enzyme |
|
ISO |
protein:increased activity:serum |
RGD |
PMID:22345095 |
RGD:11038914 |
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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|
G |
Alb |
albumin |
disease_progression |
ISO |
|
RGD |
PMID:17096887 |
RGD:11035276 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
|
|
G |
Alkbh5 |
alkB homolog 5, RNA demethylase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038059 |
|
NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
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|
G |
Apoe |
apolipoprotein E |
treatment |
ISO |
|
RGD |
PMID:22348216 |
RGD:11040544 |
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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|
G |
Arid4a |
AT-rich interaction domain 4A |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
|
|
NCBI chr 6:89,522,459...89,593,868
Ensembl chr 6:89,522,442...89,593,510
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|
G |
Atm |
ATM serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
|
|
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
|
|
G |
Aurka |
aurora kinase A |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
|
|
NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390
|
|
G |
B2m |
beta-2 microglobulin |
|
ISO |
ClinVar Annotator: match by term: Myelomatosis protein:increased expression:serum |
ClinVar RGD |
PMID:26619011 PMID:32856850 |
RGD:329955356 |
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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|
G |
Bap1 |
BRCA1 associated deubiquitinase 1 |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
|
|
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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|
G |
Bard1 |
BRCA1 associated RING domain 1 |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
|
|
NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
|
|
G |
Bcl2 |
BCL2, apoptosis regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12429644 |
|
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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|
G |
Bcl2l1 |
Bcl2-like 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12429644 PMID:14656874 |
RGD:11353847 |
NCBI chr 3:141,253,508...141,304,582
Ensembl chr 3:141,253,523...141,303,479
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G |
Bcl2l10 |
Bcl2-like 10 |
|
ISO |
protein:increased expression:bone marrow : |
RGD |
PMID:27455953 |
RGD:14392808 |
NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
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G |
Bcorl1 |
BCL6 co-repressor-like 1 |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr X:127,516,504...127,584,529
Ensembl chr X:127,537,538...127,584,087
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G |
Bnip3 |
BCL2 interacting protein 3 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18172295 |
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NCBI chr 1:193,708,164...193,725,348
Ensembl chr 1:193,708,167...193,725,359
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis |
ClinVar |
PMID:2493360 PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:14612909 PMID:14679157 PMID:14688025 PMID:15001635 PMID:15035987 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16439621 PMID:16474404 PMID:16772349 PMID:16825433 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17603483 PMID:17785355 PMID:18039235 PMID:18042262 PMID:18186519 PMID:18368129 PMID:18398503 PMID:18413255 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19206169 PMID:19238210 PMID:19376813 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21062266 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21639808 PMID:21683865 PMID:21784453 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 PMID:22310681 PMID:22351686 PMID:22356324 PMID:22389471 PMID:22448344 PMID:22536370 PMID:22586120 PMID:22608338 PMID:22649091 PMID:22663011 PMID:22735384 PMID:22743296 PMID:22773810 PMID:22798288 PMID:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23273605 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23715574 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24163374 PMID:24303953 PMID:24388723 PMID:24446311 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:24920063 PMID:25024077 PMID:25079330 PMID:25157968 PMID:25370471 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27236105 PMID:27276561 PMID:28492532 PMID:28854169 PMID:29595366 PMID:29907801 PMID:29925953 PMID:31336229 PMID:31891627 PMID:33040082 PMID:34476331 More...
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NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Brca2 |
BRCA2, DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
PMID:11904319 PMID:16199547 PMID:17924331 PMID:20104584 PMID:21990134 PMID:22666503 PMID:23451180 PMID:25741868 PMID:28492532 PMID:30883759 PMID:32398771 PMID:33646313 More...
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NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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G |
Btg1 |
BTG anti-proliferation factor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16918137 |
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NCBI chr 7:31,341,391...31,343,649
Ensembl chr 7:31,341,027...31,343,649
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G |
Cbl |
Cbl proto-oncogene |
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ISO |
mRNA:decreased expression:mononuclear cell: |
RGD |
PMID:23948411 |
RGD:11038794 |
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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G |
Cbx7 |
chromobox 7 |
susceptibility |
ISO |
DNA:snp:intron:c.113+3502C>T (human) (rs877529) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23955597 PMID:23955597 |
RGD:11352716 |
NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
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G |
Ccl2 |
C-C motif chemokine ligand 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16918137 |
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NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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G |
Ccn1 |
cellular communication network factor 1 |
exacerbates |
ISO |
mRNA, protein:increased expression:bone marrow (human) mRNA,protein:increased expression:bone marrow (human) |
RGD |
PMID:28035364 PMID:25061178 |
RGD:329845528, RGD:329845546 |
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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G |
Ccnd1 |
cyclin D1 |
susceptibility |
ISO |
DNA:snp:exon:c.870G>A (rs603965) (human) ClinVar Annotator: match by term: MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 PMID:25741868 PMID:15755896 PMID:23502783 More...
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RGD:1581171, RGD:11353784 |
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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G |
Ccnd2 |
cyclin D2 |
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ISO |
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RGD |
PMID:15755896 |
RGD:1581171 |
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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G |
Ccnd3 |
cyclin D3 |
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ISO |
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RGD |
PMID:15755896 |
RGD:1581171 |
NCBI chr 9:13,394,161...13,400,341
Ensembl chr 9:13,394,169...13,489,371
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G |
Cd40 |
CD40 molecule |
treatment |
ISO |
human cells in a mouse model |
RGD |
PMID:10866315 |
RGD:11522720 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cd40lg |
CD40 ligand |
treatment disease_progression |
ISO |
protein:increased expression:serum (human) |
RGD |
PMID:15565183 PMID:22403003 PMID:27243341 |
RGD:11352240, RGD:11352251, RGD:11352268 |
NCBI chr X:135,127,052...135,138,768
Ensembl chr X:135,126,969...135,138,306
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G |
Cd46 |
CD46 molecule |
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ISO |
protein:increased expression:plasma cell (human) |
RGD |
PMID:16728275 |
RGD:11352814 |
NCBI chr13:106,575,586...106,606,325
Ensembl chr13:106,574,858...106,660,445
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G |
Cd86 |
CD86 molecule |
severity |
ISO |
protein:increased expression:bone marrow, plasma cell (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16611307 PMID:22705596 |
RGD:11354971 |
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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G |
Cdk4 |
cyclin-dependent kinase 4 |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
PMID:5377176 PMID:7652577 PMID:8528263 PMID:8968104 PMID:9228064 PMID:9425228 PMID:11756559 PMID:15880589 PMID:21801156 PMID:22804906 PMID:23384855 PMID:23546221 PMID:24256466 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29774366 More...
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NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
disease_progression |
ISO |
DNA:hypermethylation:: CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16008847 PMID:12681979 |
RGD:11252185 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2c |
cyclin-dependent kinase inhibitor 2C |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 5:124,411,123...124,416,278
Ensembl chr 5:124,411,124...124,416,278
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G |
Cfhr1 |
complement factor H-related 1 |
treatment |
ISO |
|
RGD |
PMID:22348216 |
RGD:11040544 |
NCBI chr13:51,395,583...51,410,571
Ensembl chr13:51,369,211...51,410,592
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G |
Chi3l1 |
chitinase 3 like 1 |
severity |
ISO |
protein:increased secretion:serum (human) |
RGD |
PMID:16930142 |
RGD:4892645 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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G |
Crbn |
cereblon |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple myeloma |
CTD ClinVar |
PMID:26186254 |
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NCBI chr 4:139,701,154...139,719,949
Ensembl chr 4:139,701,094...139,719,938
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G |
Crebbp |
CREB binding protein |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Csf2 |
colony stimulating factor 2 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7540856 PMID:8104070 PMID:8555506 |
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NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:7534716 PMID:7540856 |
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NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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G |
Ctla4 |
cytotoxic T-lymphocyte-associated protein 4 |
susceptibility |
ISO |
DNA:microsatellite polymorphism:exon: : |
RGD |
PMID:11167807 |
RGD:11352247 |
NCBI chr 9:62,318,874...62,325,978
Ensembl chr 9:62,319,312...62,324,963
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G |
Cyld |
CYLD lysine 63 deubiquitinase |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
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G |
Cyp1a1 |
cytochrome P450, family 1, subfamily a, polypeptide 1 |
susceptibility |
ISO |
DNA:polymorphisms:3'UTR,cds:3801T>C,12455A>G(human) |
RGD |
PMID:18285692 |
RGD:11352726 |
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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G |
Cyp2c6 |
cytochrome P450, family 2, subfamily C, polypeptide 6 |
treatment no_association |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:17666363 PMID:20684753 |
RGD:11352748, RGD:11352804 |
NCBI chr 1:237,938,521...237,976,238
Ensembl chr 1:237,693,094...238,057,596
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G |
Cyp2d4 |
cytochrome P450, family 2, subfamily d, polypeptide 4 |
no_association |
ISO |
DNA:polymorphisms: : |
RGD |
PMID:20684753 |
RGD:11352804 |
NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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G |
Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Dsg2 |
desmoglein 2 |
disease_progression |
ISO |
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RGD |
PMID:34245117 |
RGD:401851080 |
NCBI chr18:11,846,207...11,904,630
Ensembl chr18:11,846,183...11,904,156
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G |
Eif1ax |
eukaryotic translation initiation factor 1A, X-linked |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
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G |
Eng |
endoglin |
severity |
ISO |
protein:increased expression:serum: |
RGD |
PMID:23576184 |
RGD:11041181 |
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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G |
Ephx1 |
epoxide hydrolase 1 |
no_association susceptibility |
ISO |
DNA:SNPs:exon:p.Y113H (rs1051740), p.H139R (rs2234922) (human) DNA:SNP:exon:rs2234922 (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16949155 PMID:19736056 PMID:16949155 PMID:24521996 |
RGD:11252116, RGD:11252121, RGD:11252122 |
NCBI chr13:92,714,315...92,744,105
Ensembl chr13:92,714,315...92,790,235
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G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
treatment |
ISO |
DNA:SNP: :rs735482 (human) |
RGD |
PMID:21435719 |
RGD:10450871 |
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
disease_progression sexual_dimorphism |
ISO |
DNA:polymorphism: :p.K751Q (rs13181) (human) DNA:SNP:exon 23:p.K751Q (rs1052559)(Human) |
RGD |
PMID:22183071 PMID:17131345 |
RGD:11252199, RGD:401827277 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Erf |
Ets2 repressor factor |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388
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G |
Faslg |
Fas ligand |
disease_progression |
ISO |
|
RGD |
PMID:16321857 |
RGD:11049149 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fat1 |
FAT atypical cadherin 1 |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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G |
Fcgr2a |
Fc gamma receptor 2A |
disease_progression susceptibility |
ISO |
DNA:polymorphism: :rs1801274(human) |
RGD |
PMID:25850245 PMID:17315188 |
RGD:11040778, RGD:11040938 |
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelomatosis |
CTD ClinVar |
PMID:1908846 PMID:7773297 PMID:8599935 PMID:8640234 PMID:8754806 PMID:8858131 PMID:9207791 PMID:9438390 PMID:9677066 PMID:10053006 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11055896 PMID:11241532 PMID:11429702 PMID:11529856 PMID:12624096 PMID:12833394 PMID:15772091 PMID:15843401 PMID:16752380 PMID:16841094 PMID:16912704 PMID:18642369 PMID:19088846 PMID:19855393 PMID:20301540 PMID:20420824 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:21936542 PMID:22045636 PMID:23972473 PMID:24075385 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28492532 PMID:29593476 PMID:31299979 PMID:31994750 PMID:33942288 PMID:34930662 PMID:36135330 PMID:36474027 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Fgg |
fibrinogen gamma chain |
treatment |
ISO |
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RGD |
PMID:22348216 |
RGD:11040544 |
NCBI chr 2:168,354,880...168,362,325
Ensembl chr 2:168,355,013...168,362,322
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G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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G |
Flt3lg |
Fms related receptor tyrosine kinase 3 ligand |
disease_progression |
ISO |
protein:increased expression:serum: |
RGD |
PMID:26521986 |
RGD:11075232 |
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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G |
Fto |
FTO, alpha-ketoglutarate dependent dioxygenase |
|
ISO |
mRNA:increased expression:bone marrow |
RGD |
PMID:34274946 |
RGD:329901767 |
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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G |
Gpx1 |
glutathione peroxidase 1 |
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ISO |
|
RGD |
PMID:8599825 |
RGD:11352777 |
NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
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G |
Gpx3 |
glutathione peroxidase 3 |
disease_progression |
ISO |
DNA:hypermethylation: : |
RGD |
PMID:23699600 |
RGD:11073605 |
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
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G |
Gstm1 |
glutathione S-transferase mu 1 |
severity no_association |
ISO IAGP |
|
RGD |
PMID:17653713 PMID:15136237 |
RGD:10450826, RGD:10450846 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstp1 |
glutathione S-transferase pi 1 |
disease_progression no_association treatment |
ISO |
DNA:polymorphism:cds:p.I105V(human) DNA:polymorphism: : |
RGD |
PMID:23953887 PMID:18061666 PMID:17512053 |
RGD:10755413, RGD:10755419, RGD:11075094 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
susceptibility no_association |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16949155 PMID:15136237 PMID:12624497 |
RGD:10450846, RGD:10450847 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
H19 |
H19 imprinted maternally expressed transcript |
severity |
ISO |
RNA:decrased expression:blood serum (human) |
RGD |
PMID:29470951 |
RGD:156430335 |
NCBI chr 1:197,730,698...197,733,374
Ensembl chr 1:197,730,698...197,733,134
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G |
H1f4 |
H1.4 linker histone, cluster member |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403
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G |
H3c1 |
H3 clustered histone 1 |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr17:41,368,379...41,368,902
Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856 Ensembl chr17:41,368,386...41,368,856
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G |
Hdac4 |
histone deacetylase 4 |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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G |
Hfe |
homeostatic iron regulator |
susceptibility |
ISO |
DNA:missense mutation, haplotype:cds:p.C282Y (human) |
RGD |
PMID:10383894 |
RGD:8694350 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Hk1 |
hexokinase 1 |
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ISO |
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RGD |
PMID:19996089 |
RGD:11353882 |
NCBI chr20:30,230,488...30,332,099
Ensembl chr20:30,230,486...30,332,131
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Myelomatosis ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis |
ClinVar |
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Hspb1 |
heat shock protein family B (small) member 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12855565 |
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NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
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G |
Icam1 |
intercellular adhesion molecule 1 |
treatment |
ISO |
protein:increased expression:serum: |
RGD |
PMID:7834632 PMID:7686390 |
RGD:11354981, RGD:11520780 |
NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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ISO |
ClinVar Annotator: match by term: Myelomatosis |
ClinVar |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
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NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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ISO |
ClinVar Annotator: match by term: Myelomatosis |
ClinVar |
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21647154 PMID:21889589 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:34641967 More...
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NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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G |
Igf2r |
insulin-like growth factor 2 receptor |
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ISO |
protein:increased expression:serum,urine: |
RGD |
PMID:29940770 |
RGD:14985218 |
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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G |
Il10 |
interleukin 10 |
disease_progression |
ISO |
DNA:SNP, polymorphisms:promoter:-1082G>A, (human) protein:increased expression:serum |
RGD |
PMID:11307152 PMID:11022130 |
RGD:11041888, RGD:11049458 |
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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G |
Il1a |
interleukin 1 alpha |
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ISO |
DNA:SNP:promoter:-511C>T (human) DNA:SNP:promoter:-889C>T (human) |
RGD |
PMID:25469832 PMID:17926179 PMID:1777241 |
RGD:11049156, RGD:11051973, RGD:11059513 |
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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G |
Il1b |
interleukin 1 beta |
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ISO |
DNA:SNPs:promoter, exon:-511C>T, 3954T>C (human) |
RGD |
PMID:17926179 |
RGD:11051973 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il1rn |
interleukin 1 receptor antagonist |
no_association |
ISO |
DNA:snp: :11100C>T (human) DNA:repeats:intron: |
RGD |
PMID:17926179 PMID:10848780 |
RGD:11051973, RGD:11522764 |
NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
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G |
Il4r |
interleukin 4 receptor |
susceptibility |
ISO |
DNA:SNP: :-228120T>C(rs2107356)(human) |
RGD |
PMID:17315188 |
RGD:11040938 |
NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980
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G |
Il6 |
interleukin 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:8520508 PMID:12855565 PMID:19330649 |
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NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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G |
Il7r |
interleukin 7 receptor |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757
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G |
Irf4 |
interferon regulatory factor 4 |
disease_progression treatment |
ISO |
DNA:translocation CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:18568025 PMID:10557056 PMID:17690696 PMID:21707574 |
RGD:11526161, RGD:11530019, RGD:11530055 |
NCBI chr17:33,721,800...33,742,570
Ensembl chr17:33,721,811...33,740,070
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G |
Irf8 |
interferon regulatory factor 8 |
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ISO |
DNA:hypermethylation |
RGD |
PMID:23114132 |
RGD:329902071 |
NCBI chr19:48,790,581...48,812,363
Ensembl chr19:48,790,588...48,811,829
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G |
Kdm5c |
lysine demethylase 5C |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr X:21,345,459...21,387,045
Ensembl chr X:21,345,481...21,381,870
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G |
Kmt2c |
lysine methyltransferase 2C |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 4:9,620,638...9,834,787
Ensembl chr 4:9,609,627...9,833,539
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G |
Kmt2d |
lysine methyltransferase 2D |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
PMID:22126750 PMID:24633898 PMID:25326635 PMID:25741868 PMID:27530205 PMID:28492532 More...
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NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis |
ClinVar RGD |
PMID:2278970 PMID:3122217 PMID:12460918 PMID:15696205 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17062680 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19018267 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:19794967 PMID:20921462 PMID:20921465 PMID:21228335 PMID:21975775 PMID:22282465 PMID:22407852 PMID:22722830 PMID:23182985 PMID:23325582 PMID:23406027 PMID:24033266 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 PMID:30891959 PMID:16321859 More...
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RGD:1581756 |
NCBI chr 4:178,185,418...178,218,484
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G |
Lats1 |
large tumor suppressor kinase 1 |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640
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G |
Lig4 |
DNA ligase 4 |
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ISO |
DNA:polymorphisms CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Multiple myeloma, resistance to | ClinVar Annotator: match by term: Myelomatosis |
OMIM CTD ClinVar RGD |
PMID:11779494 PMID:12471202 PMID:15333585 PMID:16088910 PMID:24033266 PMID:24123394 PMID:24759409 PMID:24892279 PMID:25239263 PMID:25741868 PMID:27063650 PMID:27612988 PMID:28492532 PMID:12471202 More...
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RGD:1600305 |
NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
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G |
Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis |
ClinVar |
PMID:11150980 PMID:12835555 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17211612 PMID:17384584 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19213030 PMID:19255327 PMID:19371735 PMID:19382114 PMID:19669404 PMID:19773371 PMID:20301680 PMID:20660566 PMID:20859122 PMID:20937837 PMID:20979192 PMID:21438134 PMID:21495179 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22256804 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22726224 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24390138 PMID:24803665 PMID:25157968 PMID:25326635 PMID:25741868 PMID:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27283355 PMID:27444071 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28328122 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:30191474 PMID:31222966 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32371413 PMID:32732226 PMID:33027564 PMID:33372952 PMID:34008892 PMID:34958143 PMID:168335863 More...
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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G |
Maf |
MAF bZIP transcription factor |
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ISS |
OMIM:254500 |
MouseDO |
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NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365
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G |
Mcl1 |
MCL1 apoptosis regulator, BCL2 family member |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:12429644 |
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NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303
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G |
Mefv |
MEFV innate immunity regulator, pyrin |
susceptibility |
ISO |
DNA:polymorphisms:cds:p.E148Q,M694V(human) |
RGD |
PMID:25202401 |
RGD:11531123 |
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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G |
Met |
MET proto-oncogene, receptor tyrosine kinase |
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ISO |
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RGD |
PMID:11830493 |
RGD:2317526 |
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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G |
Mettl14 |
methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038059 |
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NCBI chr 2:211,530,598...211,546,845
Ensembl chr 2:211,530,602...211,546,821
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G |
Mettl3 |
methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038059 |
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NCBI chr15:25,002,505...25,014,097
Ensembl chr15:25,003,172...25,014,041
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G |
Mga |
MAX dimerization protein MGA |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 3:106,851,216...106,942,908
Ensembl chr 3:106,851,140...106,941,043
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G |
Mir155 |
microRNA 155 |
disease_progression |
ISO |
miRNA:decreased expression:serum |
RGD |
PMID:25497370 PMID:28446295 |
RGD:21079441, RGD:24922226 |
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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G |
Mir17 |
microRNA 17 |
disease_progression |
ISO |
miRNA:increased expression:plasma cell |
RGD |
PMID:23718138 |
RGD:329337383 |
NCBI chr15:92,180,629...92,180,712
Ensembl chr15:92,180,629...92,180,712
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G |
Mir19a |
microRNA 19a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29687521 |
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NCBI chr15:92,180,912...92,180,993
Ensembl chr15:92,180,912...92,180,993
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G |
Mir27a |
microRNA 27a |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038059 |
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NCBI chr19:23,954,831...23,954,917
Ensembl chr19:23,954,831...23,954,917
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G |
Mir320a |
microRNA 320a |
ameliorates |
ISO |
human gene in mouse model |
RGD |
PMID:27086852 |
RGD:155882577 |
NCBI chr15:45,516,392...45,516,473
Ensembl chr15:45,516,392...45,516,473
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G |
Mir92a1 |
microRNA 92a-1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29687521 |
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NCBI chr15:92,181,336...92,181,413
Ensembl chr15:92,181,336...92,181,413
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G |
Mst1r |
macrophage stimulating 1 receptor |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455
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G |
Mthfr |
methylenetetrahydrofolate reductase |
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ISO |
DNA:missense mutations:cds:677C>T, 1298A>C (human) |
RGD |
PMID:24839819 |
RGD:10449397 |
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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G |
Mtr |
5-methyltetrahydrofolate-homocysteine methyltransferase |
susceptibility |
ISO |
DNA:polymorphism: :2756A>G(human) |
RGD |
PMID:17655928 |
RGD:11075095 |
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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G |
Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
susceptibility |
ISO |
DNA:polymorphism: :66G>A(human) |
RGD |
PMID:17655928 |
RGD:11075095 |
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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G |
Muc1 |
mucin 1, cell surface associated |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9949172 |
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NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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G |
Myd88 |
MYD88, innate immune signal transduction adaptor |
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ISO |
ClinVar Annotator: match by term: Myelomatosis |
ClinVar |
PMID:21179087 PMID:22931316 PMID:23215570 PMID:23355535 PMID:26619011 PMID:28492532 More...
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NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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G |
Ncor2 |
nuclear receptor co-repressor 2 |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319
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G |
Nf1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Nfkbia |
NFKB inhibitor alpha |
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ISO |
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RGD |
PMID:16540234 PMID:12377412 |
RGD:2298898, RGD:2298895 |
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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G |
Nkx2-1 |
NK2 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 6:73,996,601...74,001,483
Ensembl chr 6:73,996,601...73,999,791
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G |
Nono |
non-POU domain containing, octamer-binding |
exacerbates |
ISO |
mRNA:increased expression: (human) |
RGD |
PMID:32410217 |
RGD:155900765 |
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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G |
Notch2 |
notch receptor 2 |
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ISO |
protein:increased expression:bone marrow (human) |
RGD |
PMID:14726396 |
RGD:1580763 |
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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G |
Nox1 |
NADPH oxidase 1 |
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ISO |
protein:increased expression:serum |
RGD |
PMID:32856850 |
RGD:329955356 |
NCBI chr X:97,279,058...97,332,291
Ensembl chr X:97,279,056...97,302,236
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G |
Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
no_association |
ISO |
DNA:missense mutation:cds:p.P187S (human) DNA:missense mutation:cds:p.P187S (609C>T) (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16949155 PMID:18156703 PMID:18061666 |
RGD:10769348, RGD:10755419 |
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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G |
Nras |
NRAS proto-oncogene, GTPase |
treatment |
ISO |
DNA:mutation: : ClinVar Annotator: match by term: Myelomatosis |
ClinVar RGD |
PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10598665 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15899789 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21107323 PMID:21163920 PMID:21263000 PMID:21305640 PMID:21576590 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:22962325 PMID:23076151 PMID:23134356 PMID:23325582 PMID:23334668 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:23708912 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24284627 PMID:24370118 PMID:24671188 PMID:24806883 PMID:25073507 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:26980726 PMID:27050078 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:28780248 PMID:29692343 PMID:30417923 PMID:32888943 PMID:33681212 PMID:36130886 PMID:24335104 More...
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RGD:11535049 |
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Nuak1 |
NUAK family kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26873845 |
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NCBI chr 7:19,330,034...19,401,918
Ensembl chr 7:19,329,933...19,401,913
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G |
Parp1 |
poly (ADP-ribose) polymerase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21917757 |
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NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
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G |
Pf4 |
platelet factor 4 |
ameliorates |
ISO |
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RGD |
PMID:21693026 |
RGD:329901828 |
NCBI chr14:17,298,304...17,299,220
Ensembl chr14:17,298,308...17,299,365
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: Myelomatosis |
ClinVar |
PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 PMID:28492532 More...
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NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Pik3r2 |
phosphoinositide-3-kinase regulatory subunit 2 |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr16:18,665,517...18,674,067
Ensembl chr16:18,665,457...18,674,065
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G |
Pml |
PML nuclear body scaffold |
severity |
ISO |
protein:increased expression:bone marrow (human) |
RGD |
PMID:22906876 |
RGD:41404686 |
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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G |
Polr1g |
RNA polymerase I subunit G |
sexual_dimorphism |
ISO |
DNA:SNP:exon 1: p.G-21A (rs967591) (human) |
RGD |
PMID:17131345 |
RGD:401827277 |
NCBI chr 1:79,007,490...79,010,766
Ensembl chr 1:79,007,490...79,010,766
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G |
Pon1 |
paraoxonase 1 |
severity treatment susceptibility |
ISO |
protein:decreased activity:serum (human) DNA:missense mutation:cds:p.Q192R (human) |
RGD |
PMID:25520116 PMID:22348216 PMID:15136237 |
RGD:11552578, RGD:11040544, RGD:10450846 |
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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G |
Pramex1 |
PRAME like, X-linked 1 |
severity |
ISO |
associated with bortezomib treatment;mRNA:increased expression:bone marrow (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16179254 PMID:24791872 |
RGD:11535030 |
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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G |
Prmt5 |
protein arginine methyltransferase 5 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29158558 |
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NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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G |
Psors1c2 |
psoriasis susceptibility 1 candidate 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23955597 |
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NCBI chr20:3,202,178...3,203,599
Ensembl chr20:3,202,174...3,203,599
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Pthlh |
parathyroid hormone-like hormone |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11054717 |
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NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Ptpn11 |
protein tyrosine phosphatase, non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Myelomatosis |
ClinVar |
PMID:11704759 PMID:12634870 PMID:12717436 PMID:14644997 PMID:14974085 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15842656 PMID:15928039 PMID:16358218 PMID:16518851 PMID:16830086 PMID:17177198 PMID:17942397 PMID:17972951 PMID:18470943 PMID:18559669 PMID:18678287 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26822237 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
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NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ranbp2 |
RAN binding protein 2 |
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ISO |
mRNA:increased expression:bone marrow, plasma cell (human) |
RGD |
PMID:19171422 |
RGD:9835349 |
NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481
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G |
Rbbp8 |
RB binding protein 8, endonuclease |
exacerbates |
ISO |
mRNA:increased expression:bone marrow, plasma cell (human) |
RGD |
PMID:30622325 |
RGD:401940173 |
NCBI chr18:2,922,985...2,988,851
Ensembl chr18:2,921,286...2,988,846
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Rbp1 |
retinol binding protein 1 |
disease_progression |
ISO |
DNA:hypermethylation: : |
RGD |
PMID:23699600 |
RGD:11073605 |
NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743
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Recql4 |
RecQ like helicase 4 |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
PMID:28492532 |
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NCBI chr 7:108,423,453...108,430,790
Ensembl chr 7:108,423,455...108,430,619
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Robo1 |
roundabout guidance receptor 1 |
ameliorates |
ISO |
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RGD |
PMID:34268498 |
RGD:243048419 |
NCBI chr11:10,580,863...11,621,675
Ensembl chr11:10,580,908...11,620,203
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RT1-CE16 |
RT1 class I, locus CE16 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17283154 |
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NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Runx1 |
RUNX family transcription factor 1 |
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ISO |
mRNA:splice variant |
RGD |
PMID:12560229 |
RGD:6482834 |
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Rxra |
retinoid X receptor alpha |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 3:10,989,832...11,076,366
Ensembl chr 3:10,989,832...11,073,712
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Samhd1 |
SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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Sgk1 |
serum/glucocorticoid regulated kinase 1 |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 1:22,980,257...23,098,122
Ensembl chr 1:22,980,261...23,098,283
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Sh2b3 |
SH2B adaptor protein 3 |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Sod2 |
superoxide dismutase 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:15908783 PMID:15908783 |
RGD:1581238 |
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sparc |
secreted protein acidic and cysteine rich |
disease_progression |
ISO |
CTD Direct Evidence: marker/mechanism DNA:hypermethylation: : |
CTD RGD |
PMID:18172295 PMID:23699600 |
RGD:11073605 |
NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396
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Spp1 |
secreted phosphoprotein 1 |
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ISO |
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RGD |
PMID:16208410 |
RGD:1581367 |
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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G |
Tcf3 |
transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 7:9,280,571...9,302,315
Ensembl chr 7:9,280,571...9,302,314
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Tert |
telomerase reverse transcriptase |
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ISO |
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RGD |
PMID:11237381 |
RGD:11038665 |
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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G |
Tet2 |
tet methylcytosine dioxygenase 2 |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tet3 |
tet methylcytosine dioxygenase 3 |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 4:115,867,412...115,964,433
Ensembl chr 4:115,871,265...115,964,193
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Tfrc |
transferrin receptor |
treatment |
ISO |
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RGD |
PMID:21654517 |
RGD:11062101 |
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tgfb1 |
transforming growth factor, beta 1 |
disease_progression |
ISO |
DNA:hypermethylation: : protein:decreased expression:serum: |
RGD |
PMID:23699600 PMID:22560388 |
RGD:11073605, RGD:11073614 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Tnf |
tumor necrosis factor |
treatment no_association |
ISO |
DNA:SNP:promoter:-238G>A (human) DNA:SNP:promoter:-308G>A (human) |
RGD |
PMID:12200397 PMID:12815949 |
RGD:10449450, RGD:10449453 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf10b |
TNF receptor superfamily member 10b |
treatment |
ISO |
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RGD |
PMID:16531263 |
RGD:11038719 |
NCBI chr15:44,840,386...44,868,318
Ensembl chr15:44,840,386...44,867,467
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Tnfrsf13b |
TNF receptor superfamily member 13B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:23955597 |
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NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
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Tnfrsf17 |
TNF receptor superfamily member 17 |
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ISO |
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RGD |
PMID:15692072 |
RGD:2317306 |
NCBI chr10:4,301,023...4,306,889
Ensembl chr10:4,301,038...4,306,788
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G |
Tnfsf8 |
TNF superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9058727 |
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NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Tp53 |
tumor protein p53 |
disease_progression treatment |
ISO |
DNA:polymorphism:cds:p.R72P(human) protein:increased expression:nucleus: DNA:deletion: : ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis |
ClinVar RGD |
PMID:253702 PMID:960674 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2654466 PMID:3784963 PMID:7478555 PMID:7651740 PMID:7718482 PMID:7732013 PMID:7737263 PMID:7761089 PMID:7791795 PMID:7881428 PMID:7887414 PMID:7969167 PMID:8001119 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8276238 PMID:8308926 PMID:8364550 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8633021 PMID:8649776 PMID:8688334 PMID:8718514 PMID:8816796 PMID:9020384 PMID:9047394 PMID:9096669 PMID:9150393 PMID:9157982 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9418900 PMID:9482117 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9635828 PMID:9667734 PMID:9704930 PMID:9825943 PMID:10064694 PMID:10089074 PMID:10411893 PMID:10567903 PMID:10589545 PMID:10713666 PMID:10732753 PMID:10797439 PMID:10864200 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11315715 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11494139 PMID:11782540 PMID:11793474 PMID:11867759 PMID:11896595 PMID:11904319 PMID:11920959 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12672316 PMID:12700230 PMID:12702523 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15138567 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15993273 PMID:16258005 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16793544 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17390010 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17567834 PMID:17572079 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17881637 PMID:18511570 PMID:18555592 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19147582 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19556618 PMID:19681600 PMID:19850740 PMID:19930417 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20195489 PMID:20407015 PMID:20505364 PMID:20516128 PMID:20522432 PMID:20693561 PMID:20878954 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21159183 PMID:21187651 PMID:21188122 PMID:21232794 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22265402 PMID:22484423 PMID:22666503 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23124483 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23264849 PMID:23340422 PMID:23538418 PMID:23612969 PMID:23625637 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24076587 PMID:24256616 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25428789 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25634208 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25952993 PMID:25961455 PMID:26014290 PMID:26022348 PMID:26066407 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26655088 PMID:26681312 PMID:26781615 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27179933 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27493922 PMID:27501770 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27813088 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29666004 PMID:29752822 PMID:29753700 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30093976 PMID:30224644 PMID:30287823 PMID:30306255 PMID:30322717 PMID:30327374 PMID:30583724 PMID:30630526 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31212162 PMID:31559875 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32817165 PMID:32906206 PMID:33372952 PMID:33471991 PMID:33758026 PMID:33818021 PMID:34026625 PMID:34240179 PMID:34308366 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35264596 PMID:36219266 PMID:36988593 PMID:24611901 PMID:22261445 PMID:12745272 More...
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RGD:11073716, RGD:11073728, RGD:11075073 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Trnt1 |
tRNA nucleotidyl transferase 1 |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611
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G |
Tyms |
thymidylate synthetase |
treatment no_association |
ISO |
DNA:polymorphism: : DNA:repeats:5'UTR: |
RGD |
PMID:17512053 PMID:17655928 |
RGD:11075094, RGD:11075095 |
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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G |
Ulk4 |
unc-51 like kinase 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22120009 |
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NCBI chr 8:120,670,879...120,966,026
Ensembl chr 8:120,670,866...120,966,924
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G |
Vegfa |
vascular endothelial growth factor A |
susceptibility |
ISO |
DNA:SNPs,haplotypes: :rs699947,rs1570360, rs2010963(human) |
RGD |
PMID:24687381 |
RGD:11079182 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Xdh |
xanthine dehydrogenase |
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ISO |
protein:increased expression:serum |
RGD |
PMID:32856850 |
RGD:329955356 |
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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G |
Xpo5 |
exportin 5 |
severity |
ISO |
DNA:snp:3' utr:c.*659A>C (rs11077) (human) |
RGD |
PMID:22539802 |
RGD:11041735 |
NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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G |
Xrcc3 |
X-ray repair cross complementing 3 |
disease_progression |
ISO |
DNA:SNP,haplotype:: p.T241M (rs861535) (Human) |
RGD |
PMID:17131345 |
RGD:401827277 |
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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G |
Xrcc4 |
X-ray repair cross complementing 4 |
susceptibility |
ISO |
DNA:SNPs:multiple (human) |
RGD |
PMID:17901044 |
RGD:8698655 |
NCBI chr 2:20,948,464...21,197,705
Ensembl chr 2:20,951,200...21,197,808
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G |
Xrcc5 |
X-ray repair cross complementing 5 |
susceptibility |
ISO |
DNA:SNP:3'-UTR (human) |
RGD |
PMID:17901044 |
RGD:8698655 |
NCBI chr 9:73,955,216...74,044,020
Ensembl chr 9:73,955,216...74,044,018
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G |
Yap1 |
Yes1 associated transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Multiple myeloma |
ClinVar |
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NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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G |
Ythdf1 |
YTH N6-methyladenosine RNA binding protein F1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038059 |
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NCBI chr 3:168,024,660...168,040,172
Ensembl chr 3:168,024,663...168,040,172
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G |
Yy1 |
YY1 transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:35038059 |
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NCBI chr 6:127,706,739...127,736,499
Ensembl chr 6:127,707,596...127,732,747
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G |
Arpc1b |
actin related protein 2/3 complex, subunit 1B |
treatment |
ISO |
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RGD |
PMID:22608605 |
RGD:11046272 |
NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747
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G |
Asxl1 |
ASXL transcriptional regulator 1 |
treatment disease_progression |
ISO ISS |
ClinVar Annotator: match by term: ASXL1-related condition | ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome OMIM:614286 CTD Direct Evidence: marker/mechanism DNA:mutations:cds: |
OMIM ClinVar MouseDO CTD RGD |
PMID:16199547 PMID:20880116 PMID:21576631 PMID:21706002 PMID:21881046 PMID:22031865 PMID:22058207 PMID:22237106 PMID:22489043 PMID:23018865 PMID:23619563 PMID:23690417 PMID:24255920 PMID:24442206 PMID:24458439 PMID:24496303 PMID:24695057 PMID:24728327 PMID:25596267 PMID:25652455 PMID:25741868 PMID:27276561 PMID:27895058 PMID:27992414 PMID:28492532 PMID:24045501 PMID:23099237 PMID:24216483 PMID:21576631 More...
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RGD:11038769, RGD:10450876, RGD:11038712, RGD:11038707 |
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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G |
Atg7 |
autophagy related 7 |
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ISS |
OMIM:614286 |
MouseDO |
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NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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G |
Atrx |
ATRX, chromatin remodeler |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19157545 |
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Bap1 |
BRCA1 associated deubiquitinase 1 |
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ISS |
OMIM:614286 |
MouseDO |
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NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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G |
Bcl2l10 |
Bcl2-like 10 |
susceptibility treatment |
ISO |
DNA:SNP:cds:p.Leu21Arg rs2231292)(human) |
RGD |
PMID:24047476 PMID:21760590 |
RGD:11058140, RGD:14392809 |
NCBI chr 8:76,107,326...76,113,373
Ensembl chr 8:76,107,326...76,113,367
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G |
Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24571310 |
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NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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G |
Cd40 |
CD40 molecule |
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ISO |
protein:increased expression:peripheral blood, monocyte (human) |
RGD |
PMID:17805323 |
RGD:11520793 |
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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G |
Cdkn1b |
cyclin-dependent kinase inhibitor 1B |
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ISO |
DNA:deletion: : |
RGD |
PMID:9171997 |
RGD:10450601 |
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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G |
Cdkn2a |
cyclin-dependent kinase inhibitor 2A |
severity |
ISO |
DNA:hypermethylation: : |
RGD |
PMID:20658957 |
RGD:11251750 |
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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G |
Cdkn2b |
cyclin-dependent kinase inhibitor 2B |
disease_progression treatment |
ISO |
DNA:altered methylation: : CTD Direct Evidence: marker/mechanism DNA:hypermethylation: : DNA:altered methylation:promoter: |
CTD RGD |
PMID:17294728 PMID:20658957 PMID:23683424 PMID:17611569 |
RGD:11251750, RGD:11252195, RGD:11252169 |
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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G |
Cflar |
CASP8 and FADD-like apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:16105982 PMID:14562111 |
RGD:11341680 |
NCBI chr 9:60,185,338...60,236,173
Ensembl chr 9:60,185,452...60,237,034
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G |
Crebbp |
CREB binding protein |
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ISS |
OMIM:614286 |
MouseDO |
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NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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G |
Csf3r |
colony stimulating factor 3 receptor |
disease_progression |
ISO |
DNA:SNP:cds:p.E785K(human) Protein:decreased expression:CD34++ cell: |
RGD |
PMID:15644419 PMID:12670333 |
RGD:10450471, RGD:10450504 |
NCBI chr 5:138,298,605...138,318,224
Ensembl chr 5:138,301,506...138,317,881
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G |
Ctnna1 |
catenin alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17330099 |
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NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
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G |
Dapk1 |
death associated protein kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19874806 |
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NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
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G |
Ddx41 |
DEAD-box helicase 41 |
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ISO |
ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome |
ClinVar |
PMID:25741868 PMID:26712909 PMID:27133828 PMID:27795557 PMID:28492532 PMID:28547672 PMID:30963592 PMID:31484648 PMID:32098966 PMID:33585199 More...
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NCBI chr17:9,102,926...9,108,415
Ensembl chr17:9,103,010...9,108,415
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G |
Ddx42 |
DEAD-box helicase 42 |
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ISO |
mRNA:decreased expression:bone marrow mononuclear cell (human) |
RGD |
PMID:16211284 |
RGD:9850279 |
NCBI chr10:91,148,926...91,180,940
Ensembl chr10:91,148,254...91,180,939
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G |
Dlk1 |
delta like non-canonical Notch ligand 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18575777 |
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NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
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G |
Dnmt1 |
DNA methyltransferase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32431489 |
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NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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G |
Dnmt3a |
DNA methyltransferase 3 alpha |
disease_progression |
ISO |
DNA:mutations:cds: ClinVar Annotator: match by term: Myelodysplastic syndrome CTD Direct Evidence: marker/mechanism DNA:missense mutation:exon:p.R882 (human) |
ClinVar CTD RGD |
PMID:21067377 PMID:21518476 PMID:22160010 PMID:22722925 PMID:22744846 PMID:22898539 PMID:22898541 PMID:24606448 PMID:24622842 PMID:24656771 PMID:25741868 PMID:26619011 PMID:26822784 PMID:26876596 PMID:27317772 PMID:27991732 PMID:28252636 PMID:28432085 PMID:28492532 PMID:28941052 PMID:29900417 PMID:30185810 PMID:30478443 PMID:31582562 PMID:31620784 PMID:31640986 PMID:31961069 PMID:32123902 PMID:32385248 PMID:32431489 PMID:34788385 PMID:21415852 PMID:22066015 More...
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RGD:11041122, RGD:11041124 |
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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G |
Dnmt3b |
DNA methyltransferase 3 beta |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32431489 |
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NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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G |
Egr1 |
early growth response 1 |
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ISS |
OMIM:614286 |
MouseDO |
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NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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G |
Epo |
erythropoietin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:12670338 PMID:16076383 |
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NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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G |
Erbb2 |
erb-b2 receptor tyrosine kinase 2 |
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ISO |
ClinVar Annotator: match by term: Myelodysplastic syndrome |
ClinVar |
PMID:24728327 PMID:25741868 PMID:28492532 PMID:34209587 PMID:36479692 |
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NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
disease_progression |
ISO |
DNA:SNP: :p.K751Q (rs13181) (human) |
RGD |
PMID:25154760 PMID:26482462 |
RGD:11252197, RGD:11075607 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Etv6 |
ETS variant transcription factor 6 |
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ISO |
DNA:translocation: : DNA:deletion: : |
RGD |
PMID:12203785 PMID:18476590 PMID:9171997 |
RGD:1581019, RGD:10450605, RGD:10450601 |
NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
severity |
ISO |
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism mRNA:increased expression:bone marrow, mononuclear cell (human) |
CTD RGD |
PMID:20601954 PMID:22869879 PMID:21125401 |
RGD:10450880, RGD:10450887 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
Fas |
Fas cell surface death receptor |
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ISO |
mRNA,protein:increased expression:bone marrow: protein:increased expression:peripheral blood mononuclear cell: |
RGD |
PMID:9557605 PMID:15686130 |
RGD:11049447, RGD:11049448 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
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ISO |
mRNA,protein:increased expression:bone marrow: protein:decreased expression:peripheral blood mononuclear cell: |
RGD |
PMID:9557605 PMID:15686130 |
RGD:11049447, RGD:11049448 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Fcgr3a |
Fc gamma receptor 3A |
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ISO |
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RGD |
PMID:24264604 |
RGD:11352253 |
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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G |
Flt3 |
Fms related receptor tyrosine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia |
ClinVar |
PMID:22417203 |
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NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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G |
Gata1 |
GATA binding protein 1 |
severity disease_progression |
ISO ISS |
OMIM:614286 CTD Direct Evidence: marker/mechanism mRNA:increased expression:bone marrow |
MouseDO CTD RGD |
PMID:28963909 PMID:15572684 PMID:12145700 PMID:17570514 |
RGD:10450734, RGD:10450753, RGD:10450752 |
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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G |
Gata2 |
GATA binding protein 2 |
severity |
ISO |
mRNA:increased expression:bone marrow: ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:4508672 PMID:20040766 PMID:21242295 PMID:21670465 PMID:21765025 PMID:21810969 PMID:21892158 PMID:21892162 PMID:22147895 PMID:22271902 PMID:22533337 PMID:23365458 PMID:23502222 PMID:24077845 PMID:24227816 PMID:24266605 PMID:24345756 PMID:25359990 PMID:25619630 PMID:25676417 PMID:25741868 PMID:25879889 PMID:26492932 PMID:26702063 PMID:26812071 PMID:27288520 PMID:27418648 PMID:27577878 PMID:27992414 PMID:28259234 PMID:28492532 PMID:28747912 PMID:28947108 PMID:29588856 PMID:30578959 PMID:31035956 PMID:31246134 PMID:31256854 PMID:31340620 PMID:31350183 PMID:32135276 PMID:33510405 PMID:34576178 PMID:12145700 More...
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RGD:10450753 |
NCBI chr 4:120,654,205...120,667,763
Ensembl chr 4:120,658,986...120,667,761
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Gfi1 |
growth factor independent 1 transcriptional repressor |
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ISO |
mRNA:decreased expression:bone marrow: |
RGD |
PMID:18371060 |
RGD:11040459 |
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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G |
Gnb1 |
G protein subunit beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelodysplastic syndromes |
OMIM CTD ClinVar |
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32963807 More...
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NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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G |
Gstm1 |
glutathione S-transferase mu 1 |
susceptibility treatment |
ISO |
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RGD |
PMID:16620556 PMID:15595630 |
RGD:10450800, RGD:10450836 |
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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G |
Gstp1 |
glutathione S-transferase pi 1 |
susceptibility |
ISO |
DNA:missense mutation:cds:313A>G (p.I105V)(human) |
RGD |
PMID:23278642 |
RGD:10755416 |
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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G |
Gstt1 |
glutathione S-transferase theta 1 |
disease_progression no_association |
ISO |
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RGD |
PMID:8569364 PMID:23859717 PMID:9164324 |
RGD:10450772, RGD:10450840, RGD:10450779 |
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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G |
Hdac1 |
histone deacetylase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28963909 |
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NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
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G |
Hfe |
homeostatic iron regulator |
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ISO |
DNA:missense mutations:cds:p.H63D, p.C282Y (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:17001480 PMID:12624489 |
RGD:10755559 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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G |
Hras |
HRas proto-oncogene, GTPase |
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ISO |
ClinVar Annotator: match by term: Myelodysplastic syndromes |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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G |
Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
disease_progression |
ISO |
DNA:mutation: : ClinVar Annotator: match by term: Myelodysplastic syndromes |
ClinVar RGD |
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 PMID:24936872 More...
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RGD:11522722 |
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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ISO |
ClinVar Annotator: match by term: Myelodysplastic syndromes |
ClinVar |
PMID:20171147 PMID:20847235 PMID:20946881 PMID:21250968 PMID:21596855 PMID:21647154 PMID:21889589 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23558173 PMID:23815907 PMID:23949315 PMID:24049096 PMID:24589777 PMID:24606448 PMID:25157968 PMID:25326635 PMID:25398939 PMID:25741868 PMID:26619011 PMID:28166811 PMID:28492532 PMID:34641967 More...
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NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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G |
Il1b |
interleukin 1 beta |
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ISO |
mRNA:increased expression:bone marrow |
RGD |
PMID:10697556 |
RGD:10450881 |
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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G |
Il2ra |
interleukin 2 receptor subunit alpha |
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ISO |
ClinVar Annotator: match by term: Myelodysplasia |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697
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G |
Itgb3 |
integrin subunit beta 3 |
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ISO |
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RGD |
PMID:16121636 |
RGD:10755468 |
NCBI chr10:89,509,917...89,564,679
Ensembl chr10:89,509,989...89,564,679
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G |
Kmt2e |
lysine methyltransferase 2E |
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ISO |
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RGD |
PMID:18952892 |
RGD:9588548 |
NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27992414 |
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NCBI chr 4:178,185,418...178,218,484
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G |
Lgr6 |
leucine-rich repeat-containing G protein-coupled receptor 6 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32215045 |
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NCBI chr13:46,424,382...46,544,074
Ensembl chr13:46,424,383...46,543,945
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G |
Lrrc56 |
leucine rich repeat containing 56 |
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ISO |
ClinVar Annotator: match by term: Myelodysplastic syndromes |
ClinVar |
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19382114 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23429430 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25157968 PMID:25741868 PMID:25914166 PMID:26467025 PMID:26619011 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31394527 PMID:31775759 PMID:33372952 PMID:34008892 More...
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NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Lyl1 |
LYL1, basic helix-loop-helix family member |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16094422 |
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NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
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Macroh2a1 |
macroH2A.1 histone |
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ISS |
OMIM:614286 |
MouseDO |
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NCBI chr17:8,479,331...8,542,071
Ensembl chr17:8,479,372...8,542,072
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Mdm2 |
MDM2 proto-oncogene |
no_association |
ISO |
DNA:SNP:cds:309T>G(rs2279744)(human) |
RGD |
PMID:22668018 |
RGD:11073731 |
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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Mefv |
MEFV innate immunity regulator, pyrin |
susceptibility |
ISO |
DNA:polymorphisms:cds:p.M694V,E148Q(human) |
RGD |
PMID:22351163 |
RGD:11531114 |
NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973
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Mtrr |
5-methyltetrahydrofolate-homocysteine methyltransferase reductase |
susceptibility |
ISO |
DNA:polymorphism: :66A>G(human) |
RGD |
PMID:18774170 |
RGD:11075096 |
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
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Mybl2 |
MYB proto-oncogene like 2 |
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ISS |
OMIM:614286 |
MouseDO |
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NCBI chr 3:151,705,254...151,733,714
Ensembl chr 3:151,705,288...151,733,708
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Myc |
MYC proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10914558 |
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NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Npm1 |
nucleophosmin 1 |
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ISS ISO |
OMIM:614286 ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia |
MouseDO ClinVar |
PMID:15659725 PMID:20026798 PMID:32581362 |
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NCBI chr10:17,741,512...17,751,626
Ensembl chr10:17,739,941...17,751,645
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Nqo1 |
NAD(P)H quinone dehydrogenase 1 |
no_association |
ISO |
DNA:missense mutation:cds:609C>T (p.P187S) (human) |
RGD |
PMID:23643325 |
RGD:10769356 |
NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
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Nras |
NRAS proto-oncogene, GTPase |
disease_progression |
ISO |
ClinVar Annotator: match by term: Myelodysplastic syndromes |
ClinVar RGD |
PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:3122217 PMID:8120410 PMID:10598665 PMID:12460918 PMID:14982869 PMID:15046639 PMID:15831708 PMID:15951308 PMID:16273091 PMID:16291983 PMID:16434492 PMID:16518851 PMID:17332249 PMID:17384584 PMID:17517660 PMID:17671181 PMID:17699718 PMID:17823240 PMID:18375819 PMID:18390968 PMID:18633438 PMID:18794081 PMID:18948947 PMID:18952898 PMID:19047918 PMID:19075190 PMID:19657110 PMID:19775298 PMID:19966803 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21079152 PMID:21163920 PMID:21263000 PMID:21305640 PMID:21586752 PMID:21729679 PMID:21829508 PMID:22144181 PMID:22220252 PMID:22407852 PMID:22499344 PMID:22962325 PMID:23134356 PMID:23325582 PMID:23334668 PMID:23414587 PMID:23431193 PMID:23515407 PMID:23614898 PMID:23708912 PMID:24033266 PMID:24284627 PMID:24806883 PMID:25073507 PMID:25157968 PMID:25741868 PMID:26619011 PMID:26980726 PMID:27069254 PMID:27121720 PMID:27276561 PMID:27993330 PMID:28098151 PMID:28492532 PMID:28594414 PMID:29692343 PMID:30417923 PMID:32888943 PMID:33681212 PMID:36130886 PMID:23708912 More...
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RGD:11535060 |
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Plcb1 |
phospholipase C beta 1 |
severity treatment |
ISO |
mRNA:decreased expression:bone marrow, blood, mononuclear cell (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:19805378 PMID:16820933 PMID:21109771 |
RGD:11535164, RGD:11535956 |
NCBI chr 3:122,059,988...122,772,896
Ensembl chr 3:122,060,031...122,772,869
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Pmepa1 |
prostate transmembrane protein, androgen induced 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:32215045 |
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NCBI chr 3:162,011,884...162,060,343
Ensembl chr 3:162,012,751...162,060,454
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Polg |
DNA polymerase gamma, catalytic subunit |
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ISS |
OMIM:614286 |
MouseDO |
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NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
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Pramex1 |
PRAME like, X-linked 1 |
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ISO |
mRNA:increased expression:bone marrow, blood (human) |
RGD |
PMID:24763007 |
RGD:11535028 |
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Rap1gap |
Rap1 GTPase-activating protein |
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ISO |
mRNA:increased expression:bone marrow, mononuclear cells (human) |
RGD |
PMID:18551404 |
RGD:9835346 |
NCBI chr 5:149,873,987...149,939,254
Ensembl chr 5:149,892,019...149,939,253
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Runx1 |
RUNX family transcription factor 1 |
disease_progression |
ISO |
DNA:missense mutations, nonsense mutation, frameshift mutations: :multiple ClinVar Annotator: match by term: Myelodysplasia CTD Direct Evidence: marker/mechanism |
ClinVar CTD RGD |
PMID:18723428 PMID:25741868 PMID:27992414 PMID:17910630 |
RGD:11251705 |
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Samd9 |
sterile alpha motif domain containing 9 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelodysplastic syndrome |
CTD ClinVar |
PMID:27182967 PMID:28492532 PMID:30046003 |
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NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322
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Samd9l |
sterile alpha motif domain containing 9 like |
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ISS |
OMIM:614286 |
MouseDO |
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NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415
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Sf3b1 |
splicing factor 3b, subunit 1 |
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ISO ISS |
OMIM:614286 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndrome progressed to acute myeloid leukemia |
OMIM MouseDO CTD ClinVar |
PMID:21909114 PMID:21995386 PMID:23395771 PMID:25741868 |
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NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Sf3b2 |
splicing factor 3b, subunit 2 |
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ISO |
ClinVar Annotator: match by term: Myelodysplastic syndromes |
ClinVar |
PMID:26619011 |
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NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
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Slc22a5 |
solute carrier family 22 member 5 |
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ISO |
mRNA:decreased expression:PBMCs (human) |
RGD |
PMID:12802501 |
RGD:1580610 |
NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309
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Smpd3 |
sphingomyelin phosphodiesterase 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18283525 |
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NCBI chr19:34,162,337...34,245,786
Ensembl chr19:34,162,341...34,245,749
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Sphk1 |
sphingosine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:18283525 |
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NCBI chr10:101,758,567...101,764,240
Ensembl chr10:101,758,711...101,764,240
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Srsf11 |
serine and arginine rich splicing factor 11 |
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ISO |
mRNA:splice variant:bone marrow, hematopoietic stem cell (human) |
RGD |
PMID:24244432 |
RGD:11038800 |
NCBI chr 2:247,074,623...247,101,460
Ensembl chr 2:247,074,631...247,101,425
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Srsf2 |
serine and arginine rich splicing factor 2 |
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ISO ISS |
DNA:missense mutations:cds:multiple (human) OMIM:614286 |
MouseDO RGD |
PMID:23280334 |
RGD:11039052 |
NCBI chr10:102,052,158...102,055,365
Ensembl chr10:102,052,314...102,055,338
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Stag2 |
STAG2 cohesin complex component |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27992414 |
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NCBI chr X:120,974,687...121,105,677
Ensembl chr X:120,974,857...121,105,677
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Tert |
telomerase reverse transcriptase |
severity |
ISO |
mRNA:splice variants:cds ClinVar Annotator: match by term: Myelodysplasia |
ClinVar RGD |
PMID:25741868 PMID:28492532 PMID:29463756 PMID:33718801 PMID:24844605 PMID:19270495 More...
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RGD:11038659, RGD:11038661 |
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tet2 |
tet methylcytosine dioxygenase 2 |
severity |
ISO |
ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: TET2-related condition CTD Direct Evidence: marker/mechanism DNA:mutations:multiple DNA:missense mutations, nonsense mutations, splice-site mutation:multiple |
OMIM ClinVar CTD RGD |
PMID:19483684 PMID:24728327 PMID:25741868 PMID:27992414 PMID:28492532 PMID:23099237 PMID:20693430 More...
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RGD:10450876, RGD:11038679 |
NCBI chr 2:221,988,645...222,072,813
Ensembl chr 2:221,988,645...222,072,534
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Tlr2 |
toll-like receptor 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:28963909 |
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NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630
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Tnf |
tumor necrosis factor |
disease_progression |
ISO |
protein:increased expression:serum mRNA:increased expression:bone marrow |
RGD |
PMID:15888251 PMID:10697556 |
RGD:10450530, RGD:10450881 |
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tp53 |
tumor protein p53 |
disease_progression treatment no_association |
ISO |
DNA:mutation: : ClinVar Annotator: match by term: Myelodysplastic syndromes CTD Direct Evidence: marker/mechanism DNA:mutations: : DNA:SNP:cds: p.R72P(rs1042522)(human) |
ClinVar CTD RGD |
PMID:1565143 PMID:1631137 PMID:1683921 PMID:1978757 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8425176 PMID:8527048 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9704930 PMID:9825943 PMID:10089074 PMID:10411893 PMID:10797439 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11920959 PMID:12826609 PMID:14743206 PMID:15004724 PMID:15381368 PMID:15722483 PMID:15825182 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17417627 PMID:17427234 PMID:17606709 PMID:17881637 PMID:18511570 PMID:19367569 PMID:19378321 PMID:19556618 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21445056 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22919068 PMID:22955915 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23538418 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24810334 PMID:25157968 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:27992414 PMID:28152038 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30816478 PMID:31105275 PMID:31127191 PMID:31775759 PMID:32000721 PMID:32187361 PMID:32906206 PMID:33372952 PMID:33471991 PMID:36988593 PMID:24836762 PMID:25412846 PMID:25573287 PMID:22668018 PMID:24043769 More...
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RGD:11073714, RGD:11057925, RGD:11075071, RGD:11073731, RGD:11073729 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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U2af1 |
U2 small nuclear RNA auxiliary factor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Myelodysplastic syndrome |
CTD ClinVar |
PMID:22158538 PMID:23029227 PMID:23861105 PMID:24498085 PMID:25741868 PMID:26619011 More...
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NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
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Xrcc1 |
X-ray repair cross complementing 1 |
no_association |
ISO |
DNA:SNP: :p.R280H (human) DNA:SNP: :p.R194W, p.R399Q (human) |
RGD |
PMID:26482462 PMID:26482462 |
RGD:11075607, RGD:11075607 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Zfpm2 |
zinc finger protein, multitype 2 |
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ISO |
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RGD |
PMID:15705784 |
RGD:1580640 |
NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
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Zrsr2 |
zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:missense mutations:multiple (human) DNA:missense mutation:multiple (human) |
CTD RGD |
PMID:27992414 PMID:28220884 PMID:22343920 PMID:28942350 PMID:25586593 |
RGD:151347177, RGD:151232292, RGD:151232291, RGD:151232290 |
NCBI chr X:30,547,424...30,571,613
Ensembl chr X:30,547,536...30,570,125
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Dido1 |
death inducer-obliterator 1 |
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ISS |
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MouseDO |
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NCBI chr 3:167,772,535...167,825,894
Ensembl chr 3:167,772,770...167,817,218
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Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20601953 PMID:24218139 |
RGD:11038772 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Asxl1 |
ASXL transcriptional regulator 1 |
disease_progression |
ISO |
DNA:mutation,deletion:exon:2475dupA, 2846_2847del (human) DNA:mutations: : |
RGD |
PMID:21712540 PMID:23619563 |
RGD:11038705, RGD:11038768 |
NCBI chr 3:141,814,012...141,881,526
Ensembl chr 3:141,813,433...141,881,538
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Atg2b |
autophagy related 2B |
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ISO |
ClinVar Annotator: match by term: Primary myelofibrosis |
ClinVar |
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NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015
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Bdkrb1 |
bradykinin receptor B1 |
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ISO |
ClinVar Annotator: match by term: Primary myelofibrosis |
ClinVar |
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NCBI chr 6:124,510,827...124,514,475
Ensembl chr 6:124,510,870...124,513,747
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Bdkrb2 |
bradykinin receptor B2 |
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ISO |
ClinVar Annotator: match by term: Primary myelofibrosis |
ClinVar |
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NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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C6h14orf132 |
similar to human chromosome 14 open reading frame 132 |
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ISO |
ClinVar Annotator: match by term: Primary myelofibrosis |
ClinVar |
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NCBI chr 6:124,365,466...124,398,449
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Calr |
calreticulin |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Primary myelofibrosis DNA:frameshift mutations:cds:p.L367fs*46, p.K385fs*47 (human) DNA:mutations:multiple (human) |
OMIM CTD ClinVar RGD |
PMID:24325356 PMID:24325359 PMID:25741868 PMID:24997152 PMID:25860380 |
RGD:11352753, RGD:11352747 |
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
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ISO |
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RGD |
PMID:23571153 |
RGD:11252175 |
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
no_association |
ISO |
DNA:polymorphism: :p.K751Q (rs13181) (human) |
RGD |
PMID:23716550 |
RGD:11252191 |
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
severity |
ISO |
DNA:mutations:exons, introns:multiple (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:20601953 PMID:21921040 |
RGD:10450870 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Flt3 |
Fms related receptor tyrosine kinase 3 |
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ISO |
mRNA,protein:increased expression:multiple: |
RGD |
PMID:21487043 |
RGD:11049484 |
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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Flt3lg |
Fms related receptor tyrosine kinase 3 ligand |
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ISO |
protein:increased expression:plasma, CD34+ cell, bone marrow fibroblast: |
RGD |
PMID:21487043 |
RGD:11049484 |
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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Gata1 |
GATA binding protein 1 |
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ISO ISS |
OMIM:254450 |
MouseDO RGD |
PMID:16127162 |
RGD:10450748 |
NCBI chr X:14,529,706...14,537,530
Ensembl chr X:14,529,702...14,537,530
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Gskip |
GSK3B interacting protein |
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ISO |
ClinVar Annotator: match by term: Primary myelofibrosis |
ClinVar |
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NCBI chr 6:124,586,087...124,609,106
Ensembl chr 6:124,586,070...124,609,100
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Hfe |
homeostatic iron regulator |
no_association susceptibility |
ISO |
DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human) DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human) |
RGD |
PMID:19258483 PMID:19258483 |
RGD:10755491, RGD:10755491 |
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
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Insl6 |
insulin-like 6 |
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ISO |
ClinVar Annotator: match by term: Myelofibrosis, somatic |
ClinVar |
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19287384 PMID:19293426 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 More...
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NCBI chr 1:227,069,958...227,073,493
Ensembl chr 1:227,069,958...227,073,493
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Jak2 |
Janus kinase 2 |
treatment |
ISO ISS |
idiopathic myelofibrosis, OMIM:254450 ClinVar Annotator: match by term: Myelofibrosis, somatic CTD Direct Evidence: marker/mechanism |
ClinVar MouseDO CTD OMIM RGD |
PMID:15781101 PMID:15793561 PMID:15837627 PMID:15858187 PMID:15920007 PMID:16081687 PMID:16247455 PMID:16293597 PMID:16325696 PMID:16603627 PMID:16707754 PMID:16709929 PMID:16762626 PMID:16951397 PMID:17989398 PMID:18256599 PMID:18394554 PMID:19036091 PMID:19074595 PMID:19154659 PMID:19287382 PMID:19287384 PMID:19287385 PMID:19293426 PMID:19636672 PMID:20339092 PMID:20631743 PMID:20703299 PMID:21120162 PMID:21689158 PMID:21942426 PMID:22041374 PMID:22397670 PMID:22422826 PMID:22571758 PMID:22818858 PMID:22829971 PMID:23115274 PMID:23535062 PMID:24404189 PMID:24728327 PMID:24986690 PMID:25043017 PMID:25157968 PMID:25671252 PMID:25741868 PMID:28492532 PMID:32581362 PMID:15781101 PMID:22796437 More...
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RGD:1627655, RGD:10449377 |
NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
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Kmt2a |
lysine methyltransferase 2A |
exacerbates |
ISO |
DOID:4971DNA:mutations:multiple (human) |
RGD |
PMID:35731275 |
RGD:156420157 |
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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G |
Mpl |
MPL proto-oncogene, thrombopoietin receptor |
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ISO IMP |
ClinVar Annotator: match by term: Myelofibrosis with myeloid metaplasia | ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD RGD |
PMID:8073287 PMID:10971406 PMID:11071383 PMID:11133753 PMID:14764528 PMID:16199547 PMID:16470591 PMID:16834459 PMID:16868251 PMID:17666371 PMID:18090929 PMID:18451306 PMID:18528423 PMID:18769448 PMID:19036112 PMID:19388932 PMID:19483125 PMID:19608689 PMID:20113333 PMID:20151976 PMID:20188141 PMID:21326037 PMID:21489838 PMID:23625800 PMID:23970983 PMID:24033266 PMID:24438083 PMID:24728327 PMID:25023898 PMID:25538044 PMID:25741868 PMID:26316487 PMID:28492532 PMID:28823277 PMID:31064749 PMID:31294534 PMID:32703794 PMID:35477182 PMID:19671919 More...
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RGD:10449004 |
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Myb |
MYB proto-oncogene, transcription factor |
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ISS |
OMIM:254450 |
MouseDO |
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NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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G |
Ncor2 |
nuclear receptor co-repressor 2 |
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ISS |
OMIM:254450 |
MouseDO |
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NCBI chr12:31,466,418...31,628,319
Ensembl chr12:31,466,412...31,628,319
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Sh2b3 |
SH2B adaptor protein 3 |
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ISO |
ClinVar Annotator: match by term: Myelofibrosis, somatic | ClinVar Annotator: match by term: Primary myelofibrosis CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:20404132 PMID:25741868 |
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NCBI chr12:34,731,934...34,753,617
Ensembl chr12:34,731,911...34,753,616
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Src |
SRC proto-oncogene, non-receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Primary myelofibrosis |
ClinVar |
PMID:25741868 PMID:26936507 PMID:32581362 |
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NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
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Tcl1a |
Tcl1 family Akt coactivator A |
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ISO |
ClinVar Annotator: match by term: Primary myelofibrosis |
ClinVar |
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NCBI chr 6:124,125,032...124,131,025
Ensembl chr 6:124,125,032...124,131,025
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Tgfb1 |
transforming growth factor, beta 1 |
treatment |
ISO |
protein:increased expression:plasma,bone marrow: mRNA:increased expression:spleen,bone marrow: |
RGD |
PMID:23462118 PMID:23462118 PMID:23462118 |
RGD:11073609, RGD:11073609, RGD:11073609 |
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tp53 |
tumor protein p53 |
disease_progression |
ISO |
associated with Myelodysplastic Syndromes; |
RGD |
PMID:26123119 |
RGD:11073713 |
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Tunar |
TCL1 upstream neural differentiation-associated RNA |
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ISO |
ClinVar Annotator: match by term: Primary myelofibrosis |
ClinVar |
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NCBI chr 6:124,245,949...124,293,440
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Rbsn |
rabenosyn, RAB effector |
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ISO |
ClinVar Annotator: match by term: MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND OCULAR ABNORMALITIES |
ClinVar OMIM |
PMID:29784638 |
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NCBI chr 4:124,682,228...124,712,578
Ensembl chr 4:124,683,969...124,712,578
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Bmi1 |
BMI1 proto-oncogene, polycomb ring finger |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24571310 |
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NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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G |
Mir150 |
microRNA 150 |
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ISO |
miRNA:decreased expression:leukocytes |
RGD |
PMID:21501493 |
RGD:13782140 |
NCBI chr 1:95,605,024...95,605,108
Ensembl chr 1:95,605,024...95,605,108
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G |
Abl1 |
ABL proto-oncogene 1, non-receptor tyrosine kinase |
disease_progression |
ISO |
DNA:hypermethylation:promoter |
RGD |
PMID:19344397 PMID:11559572 |
RGD:11038809, RGD:11038811 |
NCBI chr 3:14,979,853...15,083,065
Ensembl chr 3:14,979,853...15,083,065
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Bcr |
BCR activator of RhoGEF and GTPase |
disease_progression |
ISO |
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RGD |
PMID:19344397 |
RGD:11038809 |
NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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G |
Cyp3a9 |
cytochrome P450, family 3, subfamily a, polypeptide 9 |
treatment |
ISO |
DNA:polymorphism:intron :6986A>G (human) |
RGD |
PMID:23394475 |
RGD:11353797 |
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
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G |
Ercc1 |
ERCC excision repair 1, endonuclease non-catalytic subunit |
treatment |
ISO |
DNA:SNP: :rs11615 (human) |
RGD |
PMID:22821389 |
RGD:11252165 |
NCBI chr 1:78,971,310...79,007,963
Ensembl chr 1:78,996,390...79,007,963
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G |
Gfi1 |
growth factor independent 1 transcriptional repressor |
disease_progression |
ISO |
mRNA,protein:increased expression:mononuclea cell, CD34+ cell |
RGD |
PMID:19887785 PMID:23411466 |
RGD:11040457, RGD:11040461 |
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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Gfi1b |
growth factor independent 1B transcriptional repressor |
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ISO |
mRNA:increased expression:blood: |
RGD |
PMID:19360458 |
RGD:11040460 |
NCBI chr 3:11,940,232...11,952,989
Ensembl chr 3:11,940,233...11,952,942
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G |
Akr1c3 |
aldo-keto reductase family 1, member C3 |
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ISO |
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RGD |
PMID:1665987 |
RGD:11552589 |
NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873
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Atg2b |
autophagy related 2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26280900 |
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NCBI chr 6:124,522,283...124,592,412
Ensembl chr 6:124,525,523...124,592,015
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G |
Bcr |
BCR activator of RhoGEF and GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22875613 |
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NCBI chr20:13,469,325...13,596,942
Ensembl chr20:13,471,668...13,597,016
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G |
Calr |
calreticulin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29047144 |
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NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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G |
Cbl |
Cbl proto-oncogene |
disease_progression |
ISO |
ClinVar Annotator: match by term: Myeloproliferative disorder DNA:mutations:exons: DNA:mutations:cds: |
ClinVar RGD |
PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 PMID:20951944 PMID:21828135 PMID:22190897 PMID:22246246 PMID:22733026 PMID:23010802 PMID:23690417 PMID:25178484 PMID:25224413 PMID:25741868 PMID:27069254 PMID:28492532 PMID:29296819 PMID:33318624 PMID:33627783 PMID:20951944 PMID:19387008 PMID:22315494 More...
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RGD:11038798, RGD:11038808, RGD:11038804 |
NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176
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Cd36 |
CD36 molecule |
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ISO |
protein:increased expression:platelet, plasma membrane |
RGD |
PMID:12479587 |
RGD:11040908 |
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
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G |
Csf1r |
colony stimulating factor 1 receptor |
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ISO |
ClinVar Annotator: match by term: Myeloproliferative disorder |
ClinVar |
PMID:18971950 |
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NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Dnmt3a |
DNA methyltransferase 3 alpha |
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ISO |
ClinVar Annotator: match by term: Myeloproliferative disorder |
ClinVar |
PMID:25363760 PMID:25741868 PMID:29900417 PMID:30478443 PMID:32581362 PMID:33238114 PMID:34315901 More...
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NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Egr1 |
early growth response 1 |
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ISO |
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RGD |
PMID:17420284 |
RGD:5131859 |
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Etv6 |
ETS variant transcription factor 6 |
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ISO |
DNA:translocation: : |
RGD |
PMID:9044825 |
RGD:10450608 |
NCBI chr 4:166,849,031...167,085,211
Ensembl chr 4:166,847,686...167,084,992
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G |
Ezh2 |
enhancer of zeste 2 polycomb repressive complex 2 subunit |
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ISO |
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RGD |
PMID:22233633 |
RGD:10450869 |
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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G |
F3 |
coagulation factor III, tissue factor |
treatment |
ISO |
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RGD |
PMID:16959024 |
RGD:11340218 |
NCBI chr 2:209,827,061...209,838,666
Ensembl chr 2:209,826,959...209,838,668
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G |
Fgfr1 |
Fibroblast growth factor receptor 1 |
treatment |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:21936542 PMID:22875613 PMID:15448205 PMID:12969958 |
RGD:11352309, RGD:11352667 |
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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G |
Fgfr1op2 |
FGFR1 oncogene partner 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22875613 |
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NCBI chr 4:179,491,602...179,512,630
Ensembl chr 4:179,491,599...179,512,630
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Myeloproliferative disorder |
ClinVar |
PMID:8845844 PMID:9438390 PMID:9843049 PMID:11429702 PMID:19088846 PMID:19331127 PMID:19381019 PMID:20301540 PMID:20542753 PMID:21273588 PMID:22869148 PMID:23200862 PMID:24419316 PMID:24476948 PMID:25157968 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26619011 PMID:28249712 PMID:28492532 PMID:29593476 PMID:30692697 PMID:31299979 More...
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Flt3 |
Fms related receptor tyrosine kinase 3 |
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ISO |
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RGD |
PMID:17936561 |
RGD:11049465 |
NCBI chr12:7,623,930...7,699,474
Ensembl chr12:7,623,930...7,699,474
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G |
Gfi1 |
growth factor independent 1 transcriptional repressor |
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ISO |
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RGD |
PMID:22932805 |
RGD:11040453 |
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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G |
Gfi1b |
growth factor independent 1B transcriptional repressor |
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