RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Nervous System Neoplasms
Accession: DOID:9006557
browse the term
Definition: Benign and malignant neoplastic processes arising from or involving components of the central, peripheral, and autonomic nervous systems, cranial nerves, and meninges. Included in this category are primary and metastatic nervous system neoplasms.
Synonyms: exact_synonym: Nervous System Neoplasm; Nervous System Tumor; neoplasm of nervous system; nervous system tumors; neural neoplasm; neural tumor; tumor of the nervous system; tumors of the nervous system
primary_id: MESH:D009423
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Artn
artemin
ISO
mRNA:increased expression:peripheral nerve:
RGD
PMID:19937367
RGD:8655552
NCBI chr 5:131,458,596...131,470,193
Ensembl chr 5:131,464,756...131,468,025
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Bdnf
brain-derived neurotrophic factor
ISO
mRNA:increased expression:peripheral nerve:
RGD
PMID:19937367
RGD:8655552
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Cav1
caveolin 1
ISO
RGD
PMID:20881564
RGD:8661782
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
mRNA,protein:decreased expression:myelinated nerve:
RGD
PMID:20600642
RGD:8661792
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
DNA:snp:promoter:c.-1053C>T (human)
RGD
PMID:12540498
RGD:1358568
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
susceptibility
ISO
DNA:missense mutation:cds:p.D312N (rs1799793) (human)
RGD
PMID:20150366
RGD:5688735
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Fgfr1
Fibroblast growth factor receptor 1
disease_progression
ISO
RGD
PMID:15354013
RGD:11567268
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Gdnf
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:peripheral nerve:
RGD
PMID:19937367
RGD:8655552
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Igf1
insulin-like growth factor 1
susceptibility
ISO
protein:increased expression:serum:
RGD
PMID:21788435
RGD:8548833
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igfbp3
insulin-like growth factor binding protein 3
susceptibility
ISO
protein:increased expression:serum:
RGD
PMID:21788435
RGD:8548833
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
protein:decreased expression:myelinated nerve:
RGD
PMID:20600642
RGD:8661792
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:14660915
RGD:8547959
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pituitary adenoma, acth-secreting, somatic
CTD ClinVar
PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 PMID:21454441 PMID:21753072 PMID:22319033 PMID:22720333 PMID:23300914 PMID:23321498 PMID:23633209 PMID:24033266 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29074612 PMID:30461320 PMID:32324286 More...
NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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Avpr1b
arginine vasopressin receptor 1B
ISO
RGD
PMID:23884782
RGD:14700670
NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792
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Bmp4
bone morphogenetic protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16195406
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Usp8
ubiquitin specific peptidase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
PMID:25485838
NCBI chr 3:113,962,136...114,009,683
Ensembl chr 3:113,962,164...114,009,666
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Mmp1
matrix metallopeptidase 1
susceptibility
ISO
DNA:insertion:promoter:g.-1607insG (human)
RGD
PMID:17502998
RGD:7207034
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mki67
marker of proliferation Ki-67
severity
ISO
RGD
PMID:21696422
RGD:6483520
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Chd6
chromodomain helicase DNA binding protein 6
ISO
ClinVar Annotator: match by term: Adult spinal cord ependymoma
ClinVar
NCBI chr 3:149,596,509...149,757,765
Ensembl chr 3:149,596,509...149,757,755
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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Astrocytoma, anaplastic
ClinVar
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Kras
KRAS proto-oncogene, GTPase
ISO
mRNA:decreased expression:brain
RGD
PMID:19179066
RGD:13702872
NCBI chr 4:178,185,418...178,218,484
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Astrocytoma, anaplastic
ClinVar
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8550239 PMID:8718514 PMID:8829627 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15958617 PMID:16206219 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:19012332 PMID:19468865 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24573247 PMID:24835218 PMID:24857548 PMID:25157968 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26786923 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33407742 PMID:33840814 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Anaplastic ependymoma
ClinVar
PMID:21285249 PMID:25085752 PMID:25741868 PMID:26315354 PMID:26467025 PMID:26580448 PMID:26689913 PMID:27616075 PMID:28492532 PMID:28678401 PMID:31636395 PMID:33471991 More...
NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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Rnf213
ring finger protein 213
ISO
ClinVar Annotator: match by term: Anaplastic ependymoma
ClinVar
PMID:26822237
NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
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Runx1
RUNX family transcription factor 1
ISO
ClinVar Annotator: match by term: Anaplastic ependymoma
ClinVar
PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 PMID:29365323 More...
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Cic
capicua transcriptional repressor
ISO
ClinVar Annotator: match by term: Anaplastic oligodendroglioma
ClinVar
NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
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Nefh
neurofilament heavy chain
treatment
ISO
RGD
PMID:31313506
RGD:27226816
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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Nefl
neurofilament light chain
treatment
ISO
RGD
PMID:31313506
RGD:27226816
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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Acvrl1
activin A receptor like type 1
ISS
OMIM:108010
MouseDO
NCBI chr 7:132,239,200...132,256,592
Ensembl chr 7:132,239,729...132,256,591
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Adgrv1
adhesion G protein-coupled receptor V1
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
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:14679157 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:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 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:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 PMID:34476331 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Cacna1h
calcium voltage-gated channel subunit alpha1 H
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:14,390,104...14,448,204
Ensembl chr10:14,390,113...14,448,376
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Cdh2
cadherin 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167
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Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Eng
endoglin
disease_progression
ISO ISS
DNA:polymorphism: : 207G>A(human) ClinVar Annotator: match by term: Cerebral arteriovenous malformation OMIM:108010
ClinVar MouseDO RGD
PMID:15879500 PMID:25741868 PMID:28492532 PMID:30120215 PMID:24876084 PMID:24520391 More...
RGD:11041171 , RGD:11041564
NCBI chr 3:15,934,566...15,972,618
Ensembl chr 3:15,934,518...15,973,230
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Flt1
Fms related receptor tyrosine kinase 1
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Gli2
GLI family zinc finger 2
ISO
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar
PMID:25741868
NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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Il17rd
interleukin 17 receptor D
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901
NCBI chr16:2,228,438...2,295,122
Ensembl chr16:2,228,287...2,292,556
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Il6
interleukin 6
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Kras
KRAS proto-oncogene, GTPase
ISO ISS
ClinVar Annotator: match by term: Arteriovenous malformations of the brain OMIM:108010 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12460918 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16618717 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:17704260 PMID:17910045 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20652921 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22722830 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23255105 PMID:23325582 PMID:23406027 PMID:24033266 PMID:24138715 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25695684 PMID:25741868 PMID:26372703 PMID:26619011 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30443000 PMID:31891627 More...
NCBI chr 4:178,185,418...178,218,484
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Lemd3
LEM domain containing 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:56,415,053...56,499,047
Ensembl chr 7:56,305,448...56,502,474
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Map4k4
mitogen-activated protein kinase kinase kinase kinase 4
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 9:42,200,708...42,326,708
Ensembl chr 9:42,200,278...42,326,698
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Notch4
notch receptor 4
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar RGD
PMID:25741868 PMID:27231971 PMID:19546852
RGD:6480671
NCBI chr20:4,160,362...4,184,466
Ensembl chr20:4,160,445...4,184,465
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Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar
PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 PMID:25741868 PMID:28492532 More...
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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Pitpnm3
PITPNM family member 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584
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Prex2
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 5:7,937,692...8,253,112
Ensembl chr 5:7,942,573...8,253,068
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Sars1
seryl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:196,065,543...196,081,240
Ensembl chr 2:196,065,430...196,081,277
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Scube2
signal peptide, CUB domain and EGF like domain containing 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 1:163,831,876...163,899,925
Ensembl chr 1:163,832,015...163,899,393
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Syn3
synapsin III
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790
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Timp3
TIMP metallopeptidase inhibitor 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:16388189
RGD:1580567
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Zfyve16
zinc finger FYVE-type containing 16
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:23,713,018...23,757,576
Ensembl chr 2:23,713,766...23,756,990
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Mir542
microRNA 542
disease_progression
ISO
RGD
PMID:26286747
RGD:13782052
NCBI chr X:132,802,623...132,802,701
Ensembl chr X:132,802,623...132,802,701
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
severity
ISO
RGD
PMID:26956052 PMID:26286747
RGD:11343921 , RGD:13782052
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Astroblastoma, MN1-altered
ClinVar
PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 PMID:26467025 PMID:26689913 PMID:26787654 PMID:28135145 PMID:28492532 PMID:28652578 PMID:28779002 PMID:30306255 PMID:30441849 PMID:31159747 PMID:31920950 PMID:32606146 PMID:33471991 PMID:34284872 PMID:35886069 More...
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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C8h11orf65
similar to human chromosome 11 open reading frame 65
ISO
ClinVar Annotator: match by term: Astroblastoma, MN1-altered
ClinVar
PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 PMID:26467025 PMID:26689913 PMID:26787654 PMID:28135145 PMID:28492532 PMID:28652578 PMID:28779002 PMID:30306255 PMID:30441849 PMID:31159747 PMID:31920950 PMID:32606146 PMID:33471991 PMID:34284872 PMID:35886069 More...
NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Astroblastoma, MN1-altered
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor
ClinVar
PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 PMID:24728327 PMID:25741868 PMID:26467025 PMID:28293299 PMID:28492530 PMID:28492532 PMID:29304373 PMID:29602769 PMID:29910053 More...
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Derl3
derlin 3
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
ClinVar
PMID:28492532
NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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Gpc3
glypican 3
ISO
protein:increased expression:brain (human)
RGD
PMID:23530909
RGD:243065128
NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
susceptibility
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical OMIM:609322
CTD OMIM ClinVar MouseDO
PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 PMID:12226744 PMID:17576681 PMID:18414213 PMID:19124645 PMID:21108436 PMID:21208904 PMID:24123847 PMID:24728327 PMID:25741868 PMID:27380723 PMID:28492532 PMID:28873162 PMID:29617669 PMID:34308366 More...
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Smarce1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
ISO
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor
ClinVar
PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:8550239 PMID:8718514 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22915647 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24835218 PMID:25157968 PMID:25741868 PMID:25952993 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26786923 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28492532 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30816478 PMID:32000721 PMID:32156018 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33840814 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Brain cancer
ClinVar
PMID:32885271
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Hnrnpl
heterogeneous nuclear ribonucleoprotein L
susceptibility
ISO
associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;mRNA:decreased expression:bone marrow (human)
RGD
PMID:15543619
RGD:10002773
NCBI chr 1:84,098,558...84,111,568
Ensembl chr 1:84,100,879...84,111,553
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Brain cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Tert
telomerase reverse transcriptase
ameliorates
ISO
DNA:SNP:cds:rs2736100 (human)
RGD
PMID:26014354
RGD:152985535
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Eef2
eukaryotic translation elongation factor 2
ISO
protein:increased expression:brain (human)
RGD
PMID:24589652
RGD:153297816
NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183
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Mir139
microRNA 139
ISO
RNA:decreased expression:brain:
RGD
PMID:26449464
RGD:13838722
NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902
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Ncam1
neural cell adhesion molecule 1
disease_progression
ISO
RGD
PMID:20219118
RGD:40924672
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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Sufu
SUFU negative regulator of hedgehog signaling
IEP
human, rat, and/or mouse glioma cells in a mouse model
RGD
PMID:30790292
RGD:150573813
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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Adam3a
ADAM metallopeptidase domain 3A
ISO
DNA:deletion
RGD
PMID:21138945
RGD:13831351
NCBI chr16:67,299,949...67,349,970
Ensembl chr16:67,299,949...67,349,968
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Bax
BCL2 associated X, apoptosis regulator
treatment
IEP IDA
RGD
PMID:27255231 PMID:29324390
RGD:13792502 , RGD:13792598
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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Bcl2
BCL2, apoptosis regulator
treatment
IEP IDA
RGD
PMID:27255231 PMID:29324390
RGD:13792502 , RGD:13792598
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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Birc3
baculoviral IAP repeat-containing 3
exacerbates
ISO
mRNA:increased expression:brain (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Birc5
baculoviral IAP repeat-containing 5
exacerbates
ISO
mRNA:increased expression:brain (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Bst2
bone marrow stromal cell antigen 2
ISO
mRNA,protein:increased expression:brain:
RGD
PMID:21565182
RGD:14398497
NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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Casp3
caspase 3
treatment
IDA
RGD
PMID:29324390
RGD:13792598
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Fadd
Fas associated via death domain
treatment
IEP
RGD
PMID:27255231
RGD:13792502
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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Fas
Fas cell surface death receptor
treatment
IDA
RGD
PMID:29324390
RGD:13792598
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
treatment
IDA
RGD
PMID:29324390
RGD:13792598
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Foxa1
forkhead box A1
disease_progression
ISO
RGD
PMID:23510544
RGD:151665742
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
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Gapdh
glyceraldehyde-3-phosphate dehydrogenase
IEP
RGD
PMID:26032618
RGD:13792685
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:brain (human)
RGD
PMID:33900414
RGD:151660356
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Mir21
microRNA 21
ISO
human cells in mouse model; RNA:increased expression:brain (human)
RGD
PMID:25059666
RGD:152998875
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Naip6
NLR family, apoptosis inhibitory protein 6
exacerbates
ISO
mRNA:increased expression:brain (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542
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Ptprb
protein tyrosine phosphatase, receptor type, B
ISO
protein:increased expression:brain (human) human cell in mouse model
RGD
PMID:33900414 PMID:16923162
RGD:151660356 , RGD:151660368
NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:brain (human)
RGD
PMID:33900414
RGD:151660356
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:SNP:exon 10: p.R399Q (human)
RGD
PMID:18330515
RGD:401827274
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Xrcc3
X-ray repair cross complementing 3
susceptibility
ISO
DNA:SNP:exon 8: p.T241M (rs861539) (Human)
RGD
PMID:18330515
RGD:401827274
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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Acrbp
acrosin binding protein
ISO
ClinVar Annotator: match by term: Neoplasm of brain
ClinVar
NCBI chr 4:157,851,149...157,864,211
Ensembl chr 4:157,841,841...157,864,213
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Alk
ALK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neoplasm of brain
CTD ClinVar
PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:21242967 PMID:21838707 PMID:22071890 PMID:22072639 PMID:22932897 PMID:22986231 PMID:23334666 PMID:24205241 PMID:25517749 PMID:25741868 PMID:26619011 PMID:26829053 PMID:28492532 PMID:28873162 PMID:29489754 PMID:30004444 PMID:30350464 PMID:30605844 More...
NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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Amot
angiomotin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27935819
NCBI chr X:108,982,399...109,041,265
Ensembl chr X:108,984,022...109,041,272
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Malignant brain neoplasm
ClinVar
PMID:32885271
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Brain Neoplasms
ClinVar
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:16772349 PMID:17096326 PMID:17119447 PMID:17311103 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18368129 PMID:18398503 PMID:18794803 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19383316 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:19913317 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 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:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23352452 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29595366 PMID:29925953 PMID:31779674 PMID:31891627 PMID:34476331 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Ccnd1
cyclin D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20932960 PMID:27935819
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Cdk4
cyclin-dependent kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20932960
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15144691 PMID:16860786
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain
ClinVar
PMID:25157968 PMID:26619011 PMID:26822237
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Cyp2c11
cytochrome P450, subfamily 2, polypeptide 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16475710
NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066
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Dapk1
death associated protein kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17319784
NCBI chr17:3,930,223...4,090,991
Ensembl chr17:3,930,213...4,090,991
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Dll1
delta like canonical Notch ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 1:56,312,062...56,320,177
Ensembl chr 1:56,312,066...56,320,179
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Dtx2
deltex E3 ubiquitin ligase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr12:20,643,289...20,682,908
Ensembl chr12:20,643,297...20,682,885
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Dut
deoxyuridine triphosphatase
severity
ISO
protein:increased expression:tumor (human)
RGD
PMID:16325515
RGD:5133680
NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771
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Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Neoplasm of brain
ClinVar
PMID:17177598 PMID:26619011
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Eml4
EMAP like 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22986231
NCBI chr 6:11,219,545...11,334,824
Ensembl chr 6:11,219,566...11,334,879
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Fjx1
four-jointed box kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27935819
NCBI chr 3:88,774,220...88,776,321
Ensembl chr 3:88,774,220...88,776,321
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H3f3a
H3.3 histone A
ISO
ClinVar Annotator: match by term: Neoplasm of brain
ClinVar
PMID:26619011
NCBI chr13:92,533,289...92,544,902
Ensembl chr13:92,533,298...92,544,908
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Hes5
hes family bHLH transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27935819
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Brain neoplasm ClinVar Annotator: match by term: Brain Neoplasms
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Brain Neoplasms
ClinVar
PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23949315 PMID:24606448 PMID:25157968 PMID:26619011 More...
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:6319491
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Iqgap1
IQ motif containing GTPase activating protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27935819
NCBI chr 1:134,679,581...134,769,776
Ensembl chr 1:134,679,586...134,769,755
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Iqgap2
IQ motif containing GTPase activating protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27935819
NCBI chr 2:26,894,836...27,170,270
Ensembl chr 2:26,894,825...27,170,279
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Itgb2
integrin subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27935819
NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20131314
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Nrarp
Notch-regulated ankyrin repeat protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 3:7,992,582...7,995,136
Ensembl chr 3:7,992,552...7,995,133
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Brain Neoplasms
ClinVar
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Pcna
proliferating cell nuclear antigen
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20932960
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20581867 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain
ClinVar
PMID:19962457 PMID:25157968 PMID:25741868 PMID:26619011
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Pms2
PMS1 homolog 2, mismatch repair system component
ISO
RGD
PMID:10763829
RGD:1599141
NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16002382
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9581815
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain
ClinVar
PMID:9259288 PMID:9399897 PMID:9467011 PMID:9619835 PMID:9856571 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10749983 PMID:10848731 PMID:10866302 PMID:10923032 PMID:11274365 PMID:11332402 PMID:11504908 PMID:11685670 PMID:11918710 PMID:14518070 PMID:16773562 PMID:17286265 PMID:17392703 PMID:17526800 PMID:17526801 PMID:18626099 PMID:18767981 PMID:18986487 PMID:19265751 PMID:20085938 PMID:20301661 PMID:20533527 PMID:21194675 PMID:21828076 PMID:21956414 PMID:22266152 PMID:22381246 PMID:22595938 PMID:22628360 PMID:23335809 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23633456 PMID:23695273 PMID:23764071 PMID:23934601 PMID:24033266 PMID:24052722 PMID:24345843 PMID:24721394 PMID:24778394 PMID:25157968 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:26467025 PMID:27477328 PMID:27959697 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28655553 PMID:29594054 PMID:29874181 PMID:30287823 PMID:30614812 PMID:30659124 PMID:32238909 PMID:33077954 PMID:33083010 PMID:33372952 PMID:33600059 PMID:36988593 More...
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain
ClinVar
PMID:12161469 PMID:12717436 PMID:14644997 PMID:14982869 PMID:15385933 PMID:15710330 PMID:15834506 PMID:15928039 PMID:16358218 PMID:17177198 PMID:17972951 PMID:18759865 PMID:19047918 PMID:19179468 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26918529 PMID:27069254 PMID:28074573 PMID:28098151 PMID:28492532 PMID:30868567 PMID:30896080 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20932960
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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S100b
S100 calcium binding protein B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27935819
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Sirt1
sirtuin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22523472
NCBI chr20:25,307,225...25,329,273
Ensembl chr20:25,306,917...25,329,260
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Smo
smoothened, frizzled class receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9581815
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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Sod2
superoxide dismutase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21749277
NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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Sox2
SRY-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27935819
NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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Spp1
secreted phosphoprotein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16651633
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Malignant brain neoplasm
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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Tgfbr2
transforming growth factor, beta receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27935819
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
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Tgm2
transglutaminase 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16170020
NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Brain neoplasm | ClinVar Annotator: match by term: Neoplasm of brain
CTD ClinVar
PMID:253702 PMID:960674 PMID:1349175 PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1591732 PMID:1631137 PMID:1631151 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1915267 PMID:1918170 PMID:1978757 PMID:2046748 PMID:2259385 PMID:2654466 PMID:3784963 PMID:4122735 PMID:6736287 PMID:7565304 PMID:7707106 PMID:7732013 PMID:7737263 PMID:7750099 PMID:7783166 PMID:7881428 PMID:7885831 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8276238 PMID:8336941 PMID:8344492 PMID:8364550 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8688334 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8869100 PMID:9020384 PMID:9049183 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9290701 PMID:9364015 PMID:9399658 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9825943 PMID:9979965 PMID:10089074 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10753186 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11051241 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11313981 PMID:11370630 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11900253 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12124823 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12672316 PMID:12700230 PMID:12702523 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12901974 PMID:12909720 PMID:12917626 PMID:14559903 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15138567 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15611505 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15977174 PMID:15982667 PMID:15993273 PMID:16206219 PMID:16209708 PMID:16247456 PMID:16258005 PMID:16288208 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16741917 PMID:16778209 PMID:16793544 PMID:16818505 PMID:16827139 PMID:16860786 PMID:16861262 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:17881637 PMID:18208484 PMID:18307025 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18689542 PMID:18818522 PMID:18937320 PMID:18978813 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19556618 PMID:19681600 PMID:19834951 PMID:19850740 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20195489 PMID:20234365 PMID:20308654 PMID:20364130 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20589832 PMID:20593220 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21056685 PMID:21059199 PMID:21080251 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21522129 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21626334 PMID:21674059 PMID:21747090 PMID:21760960 PMID:21760996 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22090360 PMID:22109999 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22672556 PMID:22713868 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:22999923 PMID:23031740 PMID:23124483 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23264849 PMID:23265383 PMID:23334668 PMID:23340422 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23625637 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24256616 PMID:24307375 PMID:24381225 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24744791 PMID:24763289 PMID:24810334 PMID:24835218 PMID:24857548 PMID:24940547 PMID:25119136 PMID:25157968 PMID:25186627 PMID:25256166 PMID:25294809 PMID:25326637 PMID:25339994 PMID:25404506 PMID:25428789 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25619955 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26066407 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26554828 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26659639 PMID:26681312 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27489289 PMID:27501770 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27622479 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27911860 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28279309 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28776571 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28973705 PMID:28975465 PMID:29025599 PMID:29058119 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29875428 PMID:29946497 PMID:29979965 PMID:30076369 PMID:30099178 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30318520 PMID:30322717 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30583724 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30709875 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31050713 PMID:31081129 PMID:31105275 PMID:31119730 PMID:31121848 PMID:31127191 PMID:31206626 PMID:31296311 PMID:31300551 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32019277 PMID:32156018 PMID:32164171 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32401780 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:33087929 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33758026 PMID:33818021 PMID:33840814 PMID:34266904 PMID:34308366 PMID:34529667 PMID:34709361 PMID:34793666 PMID:34805717 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35938033 PMID:35974385 PMID:36219266 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Neoplasm of brain
ClinVar
PMID:10205261 PMID:10533067 PMID:10735580 PMID:11208653 PMID:11603814 PMID:12136241 PMID:15798777 PMID:16114042 PMID:17304050 PMID:18854862 PMID:21309039 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20932960
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Yap1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27935819
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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Pax3
paired box 3
ISO
mRNA,protein:increased expression:brain stem:
RGD
PMID:25330836
RGD:13702891
NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
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Pdgfra
platelet derived growth factor receptor alpha
severity
ISO
RGD
PMID:20197468
RGD:13702892
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Cdk4
cyclin-dependent kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24098593
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cdk6
cyclin-dependent kinase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24098593
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24098593
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Ppm1d
protein phosphatase, Mg2+/Mn2+ dependent, 1D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24880341
NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607
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Alb
albumin
ISO
protein:decreased expression:serum:
RGD
PMID:975003
RGD:11036087
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Eno2
enolase 2
ISO
RGD
PMID:17345775
RGD:2293739
NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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Men1
menin 1
ISO
DNA:loss of heterozygosity:lung:PYGM,D11S449,D11S906(human)
RGD
PMID:16465412
RGD:2317351
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:12584572
RGD:2317635
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Mir10a
microRNA 10a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280
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Mir127
microRNA 127
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,546,215...128,546,311
Ensembl chr 6:128,546,215...128,546,311
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Mir136
microRNA 136
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,549,096...128,549,177
Ensembl chr 6:128,549,096...128,549,177
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Mir146a
microRNA 146a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr10:27,848,516...27,848,610
Ensembl chr10:27,848,516...27,848,610
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Mir154
microRNA 154
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,752,947...128,753,030
Ensembl chr 6:128,752,947...128,753,030
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Mir155
microRNA 155
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718
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Mir193a
microRNA 193a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr10:64,672,343...64,672,454
Ensembl chr10:64,672,343...64,672,454
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Mir222
microRNA 222
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr X:3,428,904...3,429,006
Ensembl chr X:3,428,904...3,429,006
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Mir224
microRNA 224
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr X:150,065,088...150,065,169
Ensembl chr X:150,065,088...150,065,169
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Mir30a
microRNA 30a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 9:25,737,600...25,737,670
Ensembl chr 9:25,737,600...25,737,670
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Mir34b
microRNA 34b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
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Mir34c
microRNA 34c
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
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Mir370
microRNA 370
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,572,257...128,572,335
Ensembl chr 6:128,572,257...128,572,335
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Mir409
microRNA 409
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,757,780...128,757,856
Ensembl chr 6:128,757,779...128,757,858
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Mir410
microRNA 410
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,758,358...128,758,433
Ensembl chr 6:128,758,354...128,758,434
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Mir487b
microRNA 487b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,741,485...128,741,566
Ensembl chr 6:128,741,485...128,741,566
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Mir494
microRNA 494
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25105010
NCBI chr 6:128,728,710...128,728,792
Ensembl chr 6:128,728,709...128,728,793
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Reg1a
regenerating family member 1 alpha
ISO
associated with Hypergastrinemia;DNA:missense mutations:cds:multiple (human)
RGD
PMID:10348814
RGD:9850135
NCBI chr 4:110,892,451...110,895,115
Ensembl chr 4:110,892,453...110,895,570
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Dhfr
dihydrofolate reductase
ISO
ClinVar Annotator: match by term: Cavernous sinus meningioma
ClinVar
PMID:25741868 PMID:26467025 PMID:31371350 PMID:31627758
NCBI chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Cavernous sinus meningioma
ClinVar
PMID:21671394 PMID:22126750 PMID:28492532
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Msh3
mutS homolog 3
ISO
ClinVar Annotator: match by term: Cavernous sinus meningioma
ClinVar
PMID:25741868 PMID:26467025 PMID:31371350 PMID:31627758
NCBI chr 2:23,444,326...23,585,777
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:SNPs:cd: p.R194W, p.Q399R (rs1799782, rs25487) (human)
RGD
PMID:23534771
RGD:401850601
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Xrcc3
X-ray repair cross complementing 3
susceptibility
ISO
DNA:SNP:cd: p.T241M (rs861539) (Human)
RGD
PMID:23534771
RGD:401850601
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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Btk
Bruton tyrosine kinase
ameliorates
ISO
RGD
PMID:28552327
RGD:124715478
NCBI chr X:97,722,796...97,762,315
Ensembl chr X:97,722,802...97,761,853
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Cd79b
CD79b molecule
treatment
ISO
RGD
PMID:28619981
RGD:151665208
NCBI chr10:91,239,354...91,242,500
Ensembl chr10:91,239,356...91,242,625
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Il10
interleukin 10
ISO
DNA:SNP:promoter:-1082G>A (human)
RGD
PMID:22628023
RGD:7364831
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Myd88
MYD88, innate immune signal transduction adaptor
treatment
ISO
RGD
PMID:28619981
RGD:151665208
NCBI chr 8:119,074,439...119,078,508
Ensembl chr 8:119,074,437...119,079,415
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Bap1
Brca1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Pdcd10
programmed cell death 10
ISO
multiple dural lesions associated with cerebral cavernous malformation 3;DNA:nonsense mutation, splice site mutations, deletion:CDS, intron:multiple (human)
RGD
PMID:19506228
RGD:401827110
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: Neoplasm of the central nervous system
ClinVar
PMID:25741868
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26192916
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Cerebellar hemangioblastoma
ClinVar
PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 PMID:22799452 PMID:23384228 PMID:25741868 PMID:28492532 More...
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Cerebellar medulloblastoma
ClinVar
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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Akap9
A-kinase anchoring protein 9
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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Ankib1
ankyrin repeat and IBR domain containing 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:25741868
NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
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Ccm2
CCM2 scaffold protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532
NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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Cyp51
cytochrome P450, family 51
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
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Flt1
Fms related receptor tyrosine kinase 1
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Krit1
KRIT1, ankyrin repeat containing
susceptibility
ISO ISS
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11941540 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:14755725 PMID:15079030 PMID:16199547 PMID:16321204 PMID:16571644 PMID:17277691 PMID:17440989 PMID:17576681 PMID:18300272 PMID:18380023 PMID:18383588 PMID:19088123 PMID:19099113 PMID:19454328 PMID:19763152 PMID:20301470 PMID:20306072 PMID:20307669 PMID:20419355 PMID:21029238 PMID:22406018 PMID:23584803 PMID:23595507 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25525159 PMID:25525273 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26682556 PMID:27766163 PMID:27790124 PMID:27792856 PMID:28000143 PMID:28492532 PMID:28645800 PMID:28745674 PMID:28867399 PMID:29593473 PMID:30161288 PMID:31124307 PMID:31254430 PMID:33651268 PMID:33891857 PMID:33911302 PMID:34558799 PMID:34634677 PMID:34964173 PMID:14755725 PMID:15079030 More...
RGD:1358458 , RGD:1598379
NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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Lrrd1
leucine-rich repeats and death domain containing 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
NCBI chr 4:30,263,147...30,293,119
Ensembl chr 4:30,264,862...30,293,173
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Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25741868 PMID:26896283 PMID:28492532 More...
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:26122242
RGD:11552573
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Pten
phosphatase and tensin homolog
ISO
protein:decreased expression:brain (human)
RGD
PMID:19061355
RGD:12859036
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Serpini1
serpin family I member 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135
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Krit1
KRIT1, ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: Cerebral cavernous malformations 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders
OMIM ClinVar
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11222804 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12854741 PMID:14755725 PMID:16571644 PMID:17562932 PMID:19088123 PMID:19454328 PMID:20301470 PMID:24401931 PMID:24689081 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29593473 More...
NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
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Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 1
ClinVar
PMID:25741868
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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Ptgis
prostaglandin I2 synthase
exacerbates
ISO
DNA:silent mutation:CDS:p.L256L (rs5628) (human)
RGD
PMID:26795600
RGD:401960081
NCBI chr 3:155,928,564...155,964,228
Ensembl chr 3:155,916,412...155,965,451
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Ccm2
CCM2 scaffold protein
ISO ISS
ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM:603284 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 PMID:17160895 PMID:17277691 PMID:17576681 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:19475721 PMID:20419355 PMID:23595507 PMID:24466005 PMID:24689081 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:30161288 PMID:31937560 PMID:32860008 PMID:35307828 More...
NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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Nacad
NAC alpha domain containing
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 2
ClinVar
PMID:17160895 PMID:28492532
NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781
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Pdcd10
programmed cell death 10
onset exacerbates
ISO ISS
DNA:deletion:CDS:c.506delA (human) DNA:mutations:multiple (human) DNA:SNPs:promoter: (rs9853967, rs11714980) (human) DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) DNA:mutations:SNPs, duplications, deletions:multiple (human) DNA:deletions, nonsense mutations:multiple (human) OMIM:603285 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
OMIM MouseDO CTD ClinVar RGD
PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:17576681 PMID:18035376 PMID:18060436 PMID:18300272 PMID:23485406 PMID:23595507 PMID:23801932 PMID:24466005 PMID:24689081 PMID:25122144 PMID:25354366 PMID:25741868 PMID:26246098 PMID:26896283 PMID:28492532 PMID:30161288 PMID:34597987 PMID:17041941 PMID:25122144 PMID:27737651 PMID:16284570 PMID:25354366 PMID:15543491 More...
RGD:401827173 , RGD:401827115 , RGD:401827114 , RGD:401827108 , RGD:401827103 , RGD:401827102 , RGD:329961304
NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
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Serpini1
serpin family I member 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 3
ClinVar
NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 4
OMIM ClinVar
PMID:25741868
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Gna14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome
ClinVar
NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423
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Ctc1
CST telomere replication complex component 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Coats plus syndrome
CTD ClinVar
PMID:22267198 PMID:22387016 PMID:23220793 PMID:23869908 PMID:24033266 PMID:25182133 PMID:25741868 PMID:28492532 PMID:30891747 More...
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Stn1
STN1 subunit of CST complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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Ctc1
CST telomere replication complex component 1
ISO
ClinVar Annotator: match by term: CTC1-related condition | ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16943371 PMID:17576681 PMID:18076099 PMID:22267198 PMID:22387016 PMID:22532422 PMID:22899577 PMID:23869908 PMID:24033266 PMID:24115768 PMID:25182133 PMID:25197929 PMID:25741868 PMID:25843205 PMID:28492532 PMID:28864049 PMID:29111009 PMID:29146883 PMID:29228254 PMID:29481669 PMID:30523342 PMID:30891747 PMID:34573280 PMID:34706368 More...
NCBI chr10:53,714,614...53,735,298
Ensembl chr10:53,714,644...53,735,298
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Pfas
phosphoribosylformylglycinamidine synthase
ISO
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 1
ClinVar
PMID:22267198 PMID:22387016 PMID:24115768 PMID:25741868 PMID:28492532 PMID:29111009 PMID:29481669 More...
NCBI chr10:53,690,301...53,711,811
Ensembl chr10:53,691,626...53,708,420
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Stn1
STN1 subunit of CST complex
ISO
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 2
OMIM ClinVar
PMID:25741868 PMID:27432940 PMID:28492532
NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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Pot1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: Cerebroretinal microangiopathy with calcifications and cysts 3
ClinVar OMIM
PMID:27013236 PMID:28492532
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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Rtel1
regulator of telomere elongation helicase 1
ameliorates susceptibility
ISO
DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human) DNA:SNP:cds:rs4809324 (human)
RGD
PMID:26014354 PMID:26014354
RGD:152985535 , RGD:152985535
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Mapk1
mitogen activated protein kinase 1
ISO
protein:increased expression:brain:
RGD
PMID:21466243
RGD:13702864
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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Prkca
protein kinase C, alpha
ISO
DNA:mutation:cds:c.1387G>C,p.D463H(human)
RGD
PMID:29476136
RGD:13782058
NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
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Foxo3
forkhead box O3
ISO
ClinVar Annotator: match by term: Choroid plexus carcinoma
ClinVar
PMID:26822237
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
ClinVar Annotator: match by term: Choroid plexus carcinoma
ClinVar
PMID:26822237
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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Nsd1
nuclear receptor binding SET domain protein 1
ISO
ClinVar Annotator: match by term: Choroid plexus carcinoma
ClinVar
PMID:26822237
NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Choroid plexus carcinoma
ClinVar
PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 PMID:8527048 PMID:9150393 PMID:9242456 PMID:9598730 PMID:9825943 PMID:10089074 PMID:11051239 PMID:11782540 PMID:12826609 PMID:14743206 PMID:16489069 PMID:16818505 PMID:17417627 PMID:17427234 PMID:17606709 PMID:17881637 PMID:18762572 PMID:19378321 PMID:20013323 PMID:20128691 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21343334 PMID:21519010 PMID:21601526 PMID:22186996 PMID:22265402 PMID:22507745 PMID:22713868 PMID:22915647 PMID:22955915 PMID:23172776 PMID:23246812 PMID:23667202 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 PMID:25584008 PMID:25741868 PMID:25925845 PMID:25952993 PMID:26230955 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26787237 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:29979965 PMID:30224644 PMID:30327374 PMID:31127191 PMID:31775759 PMID:32187361 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: Papilloma of choroid plexus
CTD ClinVar OMIM
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9607760 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9891044 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11101847 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11479205 PMID:11782540 PMID:11793474 PMID:12007217 PMID:12085209 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15004724 PMID:15037740 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16818505 PMID:16861262 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:18307025 PMID:18391940 PMID:18511570 PMID:18685109 PMID:19101993 PMID:19127115 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20436704 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21118481 PMID:21187651 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21665182 PMID:21672450 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22233476 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22923379 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23484829 PMID:23538418 PMID:23624782 PMID:23630318 PMID:23792586 PMID:23887774 PMID:24033266 PMID:24065105 PMID:24122735 PMID:24381225 PMID:24382691 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24641375 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24810334 PMID:24835218 PMID:25059482 PMID:25157968 PMID:25256166 PMID:25404506 PMID:25516983 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26718964 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27516001 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28492532 PMID:28873162 PMID:28975465 PMID:29070607 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30816478 PMID:31105275 PMID:31742824 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:33087929 PMID:33163847 PMID:33245408 PMID:33372952 PMID:33471991 PMID:33840814 PMID:34299313 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36329109 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Acod1
aconitate decarboxylase 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529
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Alg11
ALG11, alpha-1,2-mannosyltransferase
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
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Arl11
ADP-ribosylation factor like GTPase 11
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596
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Atp7b
ATPase copper transporting beta
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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Bora
bora, aurora kinase A activator
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322
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C15h13orf42
similar to human chromosome 13 open reading frame 42
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211
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Cab39l
calcium binding protein 39-like
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545
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Ccdc70
coiled-coil domain containing 70
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
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Cdadc1
cytidine and dCMP deaminase domain containing 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576
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Ckap2
cytoskeleton associated protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913
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Cln5
CLN5, intracellular trafficking protein
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
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Cnmd
chondromodulin
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297
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Commd6
COMM domain containing 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382
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Cysltr2
cysteinyl leukotriene receptor 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
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Dach1
dachshund family transcription factor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922
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Diaph3
diaphanous-related formin 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
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Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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Dleu7
deleted in lymphocytic leukemia, 7
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:36,479,533...36,495,730
Ensembl chr15:36,479,534...36,495,697
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Ebpl
EBP like
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472
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Ednrb
endothelin receptor type B
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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Fam124a
family with sequence similarity 124 member A
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
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Fbxl3
F-box and leucine-rich repeat protein 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
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Fndc3a
fibronectin type III domain containing 3a
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784
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Ints6
integrator complex subunit 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
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Itm2b
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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Kcnrg
potassium channel regulator
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:35,774,456...35,779,409
Ensembl chr15:35,774,326...35,779,415
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Kctd12
potassium channel tetramerization domain containing 12
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:79,800,078...79,806,017
Ensembl chr15:79,801,191...79,806,282
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Klf12
KLF transcription factor 12
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056
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Klf5
KLF transcription factor 5
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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Klhl1
kelch-like family member 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:72,698,191...73,142,726
Ensembl chr15:72,699,094...73,142,594
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Kpna3
karyopherin subunit alpha 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419
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Lmo7
LIM domain 7
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:78,566,999...78,769,833
Ensembl chr15:78,567,023...78,769,783
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Lpar6
lysophosphatidic acid receptor 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
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Med4
mediator complex subunit 4
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
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Mycbp2
MYC binding protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
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Mzt1
mitotic spindle organizing protein 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:75,787,281...75,797,589
Ensembl chr15:75,786,994...75,797,589
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Ndfip2
Nedd4 family interacting protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317
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Nek3
NIMA-related kinase 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508
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Nek5
NIMA-related kinase 5
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429
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Nudt15
nudix hydrolase 15
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363
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Obi1
ORC ubiquitin ligase 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734
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Olfm4
olfactomedin 4
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681
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Pcdh17
protocadherin 17
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999
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Pcdh20
protocadherin 20
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790
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Pcdh8
protocadherin 8
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:55,198,470...55,203,039
Ensembl chr15:55,198,459...55,205,872
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Pcdh9
protocadherin 9
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538
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Phf11
PHD finger protein 11
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009
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Pibf1
progesterone immunomodulatory binding factor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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Pou4f1
POU class 4 homeobox 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728
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Prr20e
proline rich 20E
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rbm26
RNA binding motif protein 26
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118
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Rcbtb1
RCC1 and BTB domain containing protein 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
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Rcbtb2
RCC1 and BTB domain containing protein 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
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Rnaseh2b
ribonuclease H2, subunit B
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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Scel
sciellin
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
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Serpine3
serpin family E member 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
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Setdb2
SET domain bifurcated histone lysine methyltransferase 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470
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Slain1
SLAIN motif family, member 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
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Slitrk1
SLIT and NTRK-like family, member 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
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Slitrk6
SLIT and NTRK-like family, member 6
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
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Spry2
sprouty RTK signaling antagonist 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009
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Spryd7
SPRY domain containing 7
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509
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Sucla2
succinate-CoA ligase ADP-forming subunit beta
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
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Sugt1
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150
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Tbc1d4
TBC1 domain family, member 4
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
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Tdrd3
tudor domain containing 3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110
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Thsd1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Trim13
tripartite motif-containing 13
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677
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Uchl3
ubiquitin C-terminal hydrolase L3
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355 Ensembl chr 3:78,485,315...78,527,355
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Vps36
vacuolar protein sorting 36 homolog
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810
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Wdfy2
WD repeat and FYVE domain containing 2
ISO
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome
ClinVar
NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
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Rnf135
ring finger protein 135
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
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Clcc1
chloride channel CLIC-like 1
ISO
ClinVar Annotator: match by term: Chudley-McCullough syndrome
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 2:196,296,350...196,326,914
Ensembl chr 2:196,296,393...196,326,913
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Gpsm2
G-protein signaling modulator 2
ISO
ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction CTD Direct Evidence: marker/mechanism DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human);
OMIM ClinVar CTD RGD
PMID:10449658 PMID:20602914 PMID:21348867 PMID:22578326 PMID:22987632 PMID:23208854 PMID:23494849 PMID:24033266 PMID:25741868 PMID:26445815 PMID:26467025 PMID:27312216 PMID:28492532 PMID:32747562 PMID:22578326 More...
RGD:11062393
NCBI chr 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154
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Adam3a
ADAM metallopeptidase domain 3A
ISO
DNA, mRNA:amplification, increase expression
RGD
PMID:25491297
RGD:13831354
NCBI chr16:67,299,949...67,349,970
Ensembl chr16:67,299,949...67,349,968
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Pcsk7
proprotein convertase subtilisin/kexin type 7
ISO
ClinVar Annotator: match by term: Corpus callosum lipoma
ClinVar
PMID:25741868
NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Craniopharyngioma
ClinVar
PMID:1316610 PMID:8162022 PMID:8381579 PMID:8381581 PMID:8395941 PMID:9824584 PMID:10083733 PMID:11247896 PMID:12172928 PMID:12486240 PMID:15311282 PMID:15771908 PMID:16088911 PMID:17293347 PMID:18794146 PMID:19029688 PMID:20649969 PMID:20924072 PMID:22135120 PMID:23159591 PMID:25590978 PMID:25741868 PMID:26446593 PMID:26467025 PMID:26625971 PMID:26840078 PMID:27081525 PMID:28492532 PMID:29351919 PMID:29753700 PMID:31159747 PMID:31469036 PMID:31504825 PMID:35189564 PMID:36225625 More...
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413733
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Craniopharyngioma
CTD ClinVar
PMID:9927029 PMID:10192393 PMID:23265383 PMID:24413733 PMID:25157968 PMID:26619011 PMID:26822237 More...
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Craniopharyngioma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Pdgfra
platelet derived growth factor receptor alpha
disease_progression
ISO
RGD
PMID:20190664
RGD:11080971
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Craniopharyngioma
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29230040
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: Craniopharyngioma
ClinVar
PMID:25741868 PMID:28492532 PMID:29641532
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Craniopharyngioma
ClinVar
PMID:22161988 PMID:25741868 PMID:28492532 PMID:29684080
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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Gli2
GLI family zinc finger 2
ISO
ClinVar Annotator: match by term: Culler-Jones syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:6726521 PMID:15994174 PMID:20685856 PMID:22967285 PMID:23408573 PMID:25741868 PMID:28492532 PMID:30629636 PMID:31292255 More...
NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574
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Arid2
AT-rich interaction domain 2
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:26580448
NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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Ctcf
CCCTC-binding factor
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma
ClinVar
PMID:12068298
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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Acvr1
activin A receptor type 1
ISO
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma
ClinVar
PMID:24705250 PMID:24705254 PMID:26619011 PMID:31779674
NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
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Brip1
BRCA1 interacting helicase 1
ISO
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma
ClinVar
PMID:16116424 PMID:16116426 PMID:16973432 PMID:18510924 PMID:19099189 PMID:19150983 PMID:19379763 PMID:19442249 PMID:19519404 PMID:20639400 PMID:20980836 PMID:21345144 PMID:22024395 PMID:22287629 PMID:22582397 PMID:23161009 PMID:23276657 PMID:23644138 PMID:23935105 PMID:24448499 PMID:24487782 PMID:24573678 PMID:24728327 PMID:24895130 PMID:25374583 PMID:25583461 PMID:25741868 PMID:26315354 PMID:26596371 PMID:26689913 PMID:26790966 PMID:26921362 PMID:27107905 PMID:28492532 PMID:28911102 PMID:29922827 PMID:30322717 PMID:31265121 PMID:31341520 PMID:31822495 PMID:32427313 PMID:32542039 PMID:33028645 PMID:33471991 PMID:33619228 PMID:34585738 More...
NCBI chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Alk
ALK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Cdk4
cyclin-dependent kinase 4
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Fanca
FA complementation group A
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Kdm5b
lysine demethylase 5B
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868
NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868 PMID:26740943 PMID:28492532 PMID:29684080 PMID:31882575
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Pms2
PMS1 homolog 2, mismatch repair system component
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:23435383 PMID:25741868 PMID:28492532 PMID:35451539
NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:22648184 PMID:25741868 PMID:28492532 PMID:28946813 PMID:31159747 PMID:32091409 PMID:33981013 More...
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8718514 PMID:8829627 PMID:11370630 PMID:11782540 PMID:12826609 PMID:15958617 PMID:16206219 PMID:16818505 PMID:17015838 PMID:17606709 PMID:19012332 PMID:19468865 PMID:20407015 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:24573247 PMID:24857548 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32475984 PMID:33407742 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tspan31
tetraspanin 31
ISO
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388
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Men1
menin 1
ISO
associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: :
RGD
PMID:17135306
RGD:2317341
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
DNA:mutation:cds:p.V600E(human)
RGD
PMID:25346165
RGD:11567238
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Amhr2
anti-Mullerian hormone receptor type 2
ISO
protein:increased expression:ovary
RGD
PMID:17988723
RGD:2315651
NCBI chr 7:133,579,152...133,588,874
Ensembl chr 7:133,579,393...133,588,258
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Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Dysgerminoma
ClinVar
PMID:9150151 PMID:11376024 PMID:16683254 PMID:19491284 PMID:20104584 PMID:21204799 PMID:23479189 PMID:23536787 PMID:24010542 PMID:24312913 PMID:24372583 PMID:24728189 PMID:25741868 PMID:26295337 PMID:26296701 PMID:26467025 PMID:26822237 PMID:27062684 PMID:27836010 PMID:28492532 PMID:28993434 PMID:29446198 PMID:29907814 PMID:30078507 PMID:30130155 PMID:30322717 PMID:30702160 PMID:30720863 PMID:31159747 PMID:32885271 PMID:33471991 More...
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
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Fgfr2
fibroblast growth factor receptor 2
ISO
associated with Acrocephalosyndactylia (MeSH:D000168)
RGD
PMID:17243131
RGD:2289660
NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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Inha
inhibin subunit alpha
ISO
RGD
PMID:11720904
RGD:2290380
NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Dysgerminoma
ClinVar RGD
PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 PMID:9827716 PMID:9990072 PMID:10362788 PMID:11276010 PMID:11380399 PMID:11493470 PMID:15790786 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18955458 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:20147452 PMID:21642685 PMID:21689725 PMID:21690468 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 PMID:10362788 More...
RGD:2292181
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Pou5f1
POU class 5 homeobox 1
ISO
RGD
PMID:15371950
RGD:2292443
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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Set
Set nuclear proto-oncogene
ISO
ClinVar Annotator: match by term: Dysgerminoma
ClinVar
PMID:26822237
NCBI chr 3:13,334,564...13,345,598
Ensembl chr 3:13,335,041...13,363,567
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St14
ST14 transmembrane serine protease matriptase
ISO
protein:increased expression:ovary
RGD
PMID:16439987
RGD:2315091
NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517
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Bcl7c
BAF chromatin remodeling complex subunit BCL7C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075792
NCBI chr 1:182,277,163...182,324,274
Ensembl chr 1:182,260,164...182,324,163
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Ephb2
Eph receptor B2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075792
NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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Gdnf
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138852
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Igf2
insulin-like growth factor 2
ISO
mRNA:increased expression:cerebellum
RGD
PMID:18478565
RGD:5509961
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Rab3a
RAB3A, member RAS oncogene family
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075792
NCBI chr16:18,684,185...18,688,297
Ensembl chr16:18,684,188...18,688,336
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Rtbdn
retbindin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075792
NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
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Shc3
SHC adaptor protein 3
ISO
DNA:amplification:brain:
RGD
PMID:19748727
RGD:13782069
NCBI chr17:13,652,247...13,772,710
Ensembl chr17:13,651,202...13,772,710
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Zfp668
zinc finger protein 668
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26075792
NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878
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Ace
angiotensin I converting enzyme
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:20488708
RGD:11039024
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
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Cand2
cullin-associated and neddylation-dissociated 2 (putative)
ISO
RGD
PMID:31426861
RGD:18899564
NCBI chr 4:148,835,050...148,864,039
Ensembl chr 4:148,835,053...148,863,153
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: Familial isolated pituitary adenoma
ClinVar
PMID:16728643 PMID:17242703 PMID:17244780 PMID:17609395 PMID:18484068 PMID:19474519 PMID:20506337 PMID:21348957 PMID:21753072 PMID:22319033 PMID:22720333 PMID:22915287 PMID:24050928 PMID:25184284 PMID:25614825 PMID:25741868 PMID:26186299 PMID:26792934 PMID:28255869 PMID:28492532 PMID:29074612 More...
NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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Alk
ALK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Familial isolated pituitary adenoma
ClinVar
PMID:9536098 PMID:17576681 PMID:21838707 PMID:22072639 PMID:23104988 PMID:25741868 PMID:28492532 PMID:32984025 More...
NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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Gnai2
G protein subunit alpha i2
ISO
ClinVar Annotator: match by term: Familial isolated pituitary adenoma
ClinVar
PMID:25741868
NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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Insrr
insulin receptor-related receptor
ISO
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar
NCBI chr 2:173,255,335...173,274,800
Ensembl chr 2:173,255,414...173,274,800
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Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar
PMID:10330344 PMID:10443680 PMID:10861667 PMID:11139246 PMID:11159935 PMID:11719521 PMID:20301726 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32807182 More...
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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Prlr
prolactin receptor
ISS
OMIM:155240
MouseDO
NCBI chr 2:59,134,147...59,324,719
Ensembl chr 2:59,134,588...59,324,718
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Ret
ret proto-oncogene
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary
CTD OMIM ClinVar
PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 PMID:7633441 PMID:7647787 PMID:7716719 PMID:7784092 PMID:7824936 PMID:7835899 PMID:7845675 PMID:7849720 PMID:7874109 PMID:7881414 PMID:7906417 PMID:7906866 PMID:7907913 PMID:7911697 PMID:7915165 PMID:7915166 PMID:7977365 PMID:8099202 PMID:8103403 PMID:8114940 PMID:8557249 PMID:8570194 PMID:8595427 PMID:8626834 PMID:8675603 PMID:8733882 PMID:8782503 PMID:8797874 PMID:8807338 PMID:8855832 PMID:8909322 PMID:8918855 PMID:9067749 PMID:9090527 PMID:9111992 PMID:9111993 PMID:9146685 PMID:9174404 PMID:9230192 PMID:9242375 PMID:9259198 PMID:9263528 PMID:9384613 PMID:9398735 PMID:9452077 PMID:9467562 PMID:9498388 PMID:9506724 PMID:9606292 PMID:9620546 PMID:9681850 PMID:9681851 PMID:9727738 PMID:9745455 PMID:9760196 PMID:9824583 PMID:9839497 PMID:9868860 PMID:9879991 PMID:9950371 PMID:10024437 PMID:10076558 PMID:10220148 PMID:10235148 PMID:10323403 PMID:10369718 PMID:10445857 PMID:10462620 PMID:10490816 PMID:10549772 PMID:10646792 PMID:10679286 PMID:10777380 PMID:10790203 PMID:10826520 PMID:10876191 PMID:10982477 PMID:11114642 PMID:11230481 PMID:11238493 PMID:11351254 PMID:11386462 PMID:11436122 PMID:11454140 PMID:11471675 PMID:11562352 PMID:11589684 PMID:11688458 PMID:11732489 PMID:11739416 PMID:11788682 PMID:11849247 PMID:11932300 PMID:11935126 PMID:11939755 PMID:12000816 PMID:12019403 PMID:12116277 PMID:12150334 PMID:12193298 PMID:12409662 PMID:12410354 PMID:12490841 PMID:12566528 PMID:12686527 PMID:12694233 PMID:12788868 PMID:12864791 PMID:12920219 PMID:14517954 PMID:14561794 PMID:14566559 PMID:14602786 PMID:14633923 PMID:14715928 PMID:14718397 PMID:15184865 PMID:15240641 PMID:15277225 PMID:15292360 PMID:15331579 PMID:15345114 PMID:15386323 PMID:15531714 PMID:15588376 PMID:15588381 PMID:15699703 PMID:15741265 PMID:15753368 PMID:15855933 PMID:15858153 PMID:15870131 PMID:15991157 PMID:16118333 PMID:16275981 PMID:16314641 PMID:16325365 PMID:16343097 PMID:16384843 PMID:16441254 PMID:16469774 PMID:16507829 PMID:16525712 PMID:16532227 PMID:16649977 PMID:16705552 PMID:16712668 PMID:16715139 PMID:16736292 PMID:16813623 PMID:16849421 PMID:16865646 PMID:16865647 PMID:16868135 PMID:16928683 PMID:17021738 PMID:17032739 PMID:17047083 PMID:17097365 PMID:17108110 PMID:17178962 PMID:17209045 PMID:17316110 PMID:17384210 PMID:17466010 PMID:17483988 PMID:17540634 PMID:17590169 PMID:17605401 PMID:17610518 PMID:17664273 PMID:17704047 PMID:17895320 PMID:17963006 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18073307 PMID:18206480 PMID:18209889 PMID:18248648 PMID:18252215 PMID:18299477 PMID:18541894 PMID:18805915 PMID:19041016 PMID:19169500 PMID:19201392 PMID:19255327 PMID:19445625 PMID:19469690 PMID:19472011 PMID:19826964 PMID:19906784 PMID:19958926 PMID:20039896 PMID:20041006 PMID:20065189 PMID:20080836 PMID:20087666 PMID:20103606 PMID:20142552 PMID:20368568 PMID:20369307 PMID:20442138 PMID:20494215 PMID:20497437 PMID:20516206 PMID:20554711 PMID:20719260 PMID:20739875 PMID:20833330 PMID:20847059 PMID:20979234 PMID:20981092 PMID:21054478 PMID:21134561 PMID:21253810 PMID:21254918 PMID:21309721 PMID:21311890 PMID:21422799 PMID:21422803 PMID:21454698 PMID:21455200 PMID:21470995 PMID:21479187 PMID:21490379 PMID:21626080 PMID:21655256 PMID:21678021 PMID:21688339 PMID:21690267 PMID:21711375 PMID:21765987 PMID:21810974 PMID:21834681 PMID:21986619 PMID:21995290 PMID:22025146 PMID:22068382 PMID:22174939 PMID:22199277 PMID:22233172 PMID:22270996 PMID:22359510 PMID:22403753 PMID:22584710 PMID:22676047 PMID:22676344 PMID:22703879 PMID:22729463 PMID:22747440 PMID:22811860 PMID:22837065 PMID:22865907 PMID:22965292 PMID:22992277 PMID:22995991 PMID:23056499 PMID:23084198 PMID:23210566 PMID:23278115 PMID:23295303 PMID:23341727 PMID:23461807 PMID:23468374 PMID:23514012 PMID:23526464 PMID:23527089 PMID:23660872 PMID:23723040 PMID:23744765 PMID:23745650 PMID:23756355 PMID:24033266 PMID:24064755 PMID:24152999 PMID:24331334 PMID:24336963 PMID:24361808 PMID:24375508 PMID:24449023 PMID:24560924 PMID:24569963 PMID:24616773 PMID:24617864 PMID:24684035 PMID:24699901 PMID:24716929 PMID:24728327 PMID:24794695 PMID:24805091 PMID:24845513 PMID:25157968 PMID:25319874 PMID:25349307 PMID:25374962 PMID:25425582 PMID:25440022 PMID:25501606 PMID:25624014 PMID:25628771 PMID:25637381 PMID:25694125 PMID:25733075 PMID:25741868 PMID:25759805 PMID:25767701 PMID:25810047 PMID:25887804 PMID:25903693 PMID:26033033 PMID:26046350 PMID:26084817 PMID:26230854 PMID:26247112 PMID:26254625 PMID:26269449 PMID:26343384 PMID:26356818 PMID:26395553 PMID:26467025 PMID:26678667 PMID:26687385 PMID:26758973 PMID:26845104 PMID:26920351 PMID:27099842 PMID:27153395 PMID:27207748 PMID:27379493 PMID:27539324 PMID:27673361 PMID:27807060 PMID:27809725 PMID:27854218 PMID:27884173 PMID:27994876 PMID:28125075 PMID:28137737 PMID:28323957 PMID:28492532 PMID:28647780 PMID:28873162 PMID:28946813 PMID:28951487 PMID:29026273 PMID:29097883 PMID:29192238 PMID:29396759 PMID:29408964 PMID:29420094 PMID:29549836 PMID:29590403 PMID:29625052 PMID:29656518 PMID:29684080 PMID:29790872 PMID:30012587 PMID:30172768 PMID:30217742 PMID:30392857 PMID:30660595 PMID:30763276 PMID:30877234 PMID:30884088 PMID:30927507 PMID:31447099 PMID:31471357 PMID:31510104 PMID:31937788 PMID:32164334 PMID:32179705 PMID:32293499 PMID:32375120 PMID:32411094 PMID:32732076 PMID:32923848 PMID:33084974 PMID:33167350 PMID:33340421 PMID:33450337 PMID:33615670 PMID:33754314 PMID:33763905 PMID:33827484 PMID:34629742 PMID:34637071 PMID:34881033 PMID:34885201 PMID:35189708 PMID:35304457 PMID:35535697 PMID:36900197 More...
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Mn1
MN1 proto-oncogene, transcriptional regulator
ISO
ClinVar Annotator: match by term: Familial meningioma CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:25741868
NCBI chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7759081 PMID:8012353 PMID:9466988 PMID:9536098 PMID:9931334 PMID:11535133 PMID:16983642 PMID:17576681 PMID:20553997 PMID:22081132 PMID:24309211 PMID:24595234 PMID:25741868 PMID:26045165 PMID:26332594 PMID:27930734 PMID:28492532 PMID:29316957 PMID:29409008 PMID:29641532 PMID:30306255 PMID:33058421 PMID:35264596 More...
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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Pdgfb
platelet derived growth factor subunit B
ISO
ClinVar Annotator: match by term: Familial meningioma CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM
PMID:25741868
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD ClinVar OMIM
PMID:9259288 PMID:9399897 PMID:9425889 PMID:9467011 PMID:9600246 PMID:9856571 PMID:10232405 PMID:10234502 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10848731 PMID:10866302 PMID:10923032 PMID:11274365 PMID:11332402 PMID:11504908 PMID:11685670 PMID:11918710 PMID:14518070 PMID:14566704 PMID:16014636 PMID:16773562 PMID:17286265 PMID:17392703 PMID:17526800 PMID:17526801 PMID:17898811 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20301661 PMID:20600018 PMID:20926450 PMID:21194675 PMID:21659347 PMID:21828076 PMID:21956414 PMID:22266152 PMID:22381246 PMID:22595938 PMID:22628360 PMID:23335809 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:23764071 PMID:23934601 PMID:24033266 PMID:24052722 PMID:24345843 PMID:24375884 PMID:24766807 PMID:24778394 PMID:25132236 PMID:25157968 PMID:25326635 PMID:25669429 PMID:25741868 PMID:25756585 PMID:25875300 PMID:26467025 PMID:26468640 PMID:27477328 PMID:27531073 PMID:27959697 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28655553 PMID:28677221 PMID:29594054 PMID:29706350 PMID:29785012 PMID:29874181 PMID:30287823 PMID:30311380 PMID:30614812 PMID:30659124 PMID:32196895 PMID:32238909 PMID:32350270 PMID:32366478 PMID:32442409 PMID:33077954 PMID:33083010 PMID:33372952 PMID:33600059 PMID:33876391 PMID:33887726 PMID:35227301 PMID:36988593 More...
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Smarce1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22426308 PMID:23377182 PMID:25169753 PMID:25741868 PMID:26803492 PMID:27891692 PMID:28492532 PMID:29625052 PMID:30209809 More...
NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to
CTD OMIM ClinVar
PMID:21188540 PMID:22508808 PMID:22958902 PMID:23826113 PMID:24728327 PMID:25741868 PMID:26467025 PMID:26580448 PMID:27930734 PMID:28492532 PMID:28965847 PMID:29641532 PMID:29654263 More...
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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Rb1
RB transcriptional corepressor 1
ISO
DNA:mutations:promoter, intron, exon:multiple ClinVar Annotator: match by term: Hereditary retinoblastoma
ClinVar RGD
PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 PMID:9671401 PMID:10486322 PMID:10617920 PMID:10671068 PMID:11668642 PMID:12541220 PMID:15884040 PMID:16269091 PMID:17576681 PMID:18449911 PMID:18677112 PMID:22084214 PMID:25741868 PMID:25754945 PMID:28492532 PMID:17096365 More...
RGD:8547984
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Kras
KRAS proto-oncogene, GTPase
ISO
mRNA:decreased expression:brain
RGD
PMID:19179066
RGD:13702872
NCBI chr 4:178,185,418...178,218,484
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Bap1
Brca1 associated protein 1
ISO
ClinVar Annotator: match by term: Ganglioglioma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Childhood ganglioglioma
ClinVar
PMID:19363522 PMID:19794125 PMID:21190184 PMID:21343559 PMID:21716161 PMID:22535154 PMID:24033266 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Ganglioglioma
ClinVar
PMID:7607663 PMID:10712197 PMID:15523642 PMID:16835897 PMID:16944272 PMID:18546366 PMID:19738042 PMID:23913538 PMID:24357598 PMID:25325900 PMID:25741868 PMID:26467025 PMID:27980226 PMID:28492532 PMID:31371350 PMID:34427956 PMID:34988040 More...
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Igf1r
insulin-like growth factor 1 receptor
ISO
mRNA and protein: increased expression::poor prognosis for high expression
RGD
PMID:15867218
RGD:7242847
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Men1
menin 1
ISO
DNA:mutations: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17961653 PMID:15944766
RGD:2317354
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Met
MET proto-oncogene, receptor tyrosine kinase
severity
ISO
associated with Zollinger-Ellison Syndrome; mRNA:increased expression:tumor (human)
RGD
PMID:12114431
RGD:2317605
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypomethylation:promoter (human)
RGD
PMID:17278096
RGD:2317340
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Slc2a2
solute carrier family 2 member 2
ISO
mRNA:decreased expression:pancreatic islet
RGD
PMID:12114701 PMID:8421107
RGD:2324976 , RGD:2324977
NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
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Atm
ATM serine/threonine kinase
disease_progression
ISO
associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human)
RGD
PMID:22485171
RGD:150340716
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atrx
ATRX, chromatin remodeler
severity
ISO
RGD
PMID:26026117
RGD:127285385
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Cd53
Cd53 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 2:194,352,139...194,399,668
Ensembl chr 2:194,352,139...194,399,657
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Cd86
CD86 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr11:64,142,193...64,200,816
Ensembl chr11:64,163,828...64,200,818
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Ciita
class II, major histocompatibility complex, transactivator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440
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Cxcr4
C-X-C motif chemokine receptor 4
severity
ISO
protein:increased expression:colon (human)
RGD
PMID:26259237
RGD:11530617
NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883
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Daxx
death-domain associated protein
severity
ISO
RGD
PMID:26026117
RGD:127285385
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
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Eomes
eomesodermin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 8:118,181,340...118,189,186
Ensembl chr 8:118,181,777...118,188,316
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Gfi1
growth factor independent 1 transcriptional repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr14:2,040,576...2,056,874
Ensembl chr14:2,042,434...2,051,814
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Ikzf1
IKAROS family zinc finger 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
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Ikzf3
IKAROS family zinc finger 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr10:83,460,564...83,553,591
Ensembl chr10:83,465,745...83,553,591
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Il10
interleukin 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il2rb
interleukin 2 receptor subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 7:110,033,341...110,048,054
Ensembl chr 7:110,033,341...110,048,054
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Notch2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Pou2f2
POU class 2 homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 1:80,682,330...80,769,756
Ensembl chr 1:80,685,741...80,724,261
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Ptprc
protein tyrosine phosphatase, receptor type, C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692
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Runx3
RUNX family transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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Serpina1
serpin family A member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29915428
NCBI chr 6:122,866,314...122,888,339
Ensembl chr 6:122,866,312...122,888,339
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
DNA:missense mutation:exon:p.V600E (human)
RGD
PMID:19289622
RGD:2315865
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Ccnd2
cyclin D2
ISO
RGD
PMID:17167184
RGD:2296039
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
DNA:transition:exon:142G>A
RGD
PMID:9554401
RGD:2289698
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
ISO
DNA:transition:exon:142G>A
RGD
PMID:9554401
RGD:2289698
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Cdkn2a_v2
cyclin-dependent kinase inhibitor 2A, variant 2
ISO
DNA:transition:exon:142G>A
RGD
PMID:9554401
RGD:2289698
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Mgp
matrix Gla protein
ISO
RGD
PMID:1399132
RGD:2293578
NCBI chr 4:169,766,290...169,769,612
Ensembl chr 4:169,766,279...169,769,667
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Pdpn
podoplanin
ISO
RGD
PMID:16718353
RGD:2292236
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Germinoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Actr3
actin related protein 3
ISO
mRNA:increased expression:brain (human)
RGD
PMID:25682201
RGD:11570557
NCBI chr13:36,800,739...36,843,837
Ensembl chr13:36,800,093...36,844,124
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Adgrb1
adhesion G protein-coupled receptor B1
treatment
ISO
mRNA:decreased expression:brain:
RGD
PMID:16244591 PMID:12507886
RGD:13831352 , RGD:13831355
NCBI chr 7:106,404,827...106,476,902
Ensembl chr 7:106,404,958...106,476,902
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Adgrl4
adhesion G protein-coupled receptor L4
treatment severity
ISO IEP
RGD
PMID:27416955 PMID:23096411 PMID:23096411
RGD:13838664 , RGD:13838665 , RGD:13838665
NCBI chr 2:240,354,909...240,457,231
Ensembl chr 2:240,354,941...240,457,225
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Akt1
AKT serine/threonine kinase 1
ISO
RGD
PMID:10802656
RGD:734543
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Akt3
AKT serine/threonine kinase 3
disease_progression
ISO
RGD
PMID:27422127
RGD:13674164
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7661930
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Arrb2
arrestin, beta 2
ameliorates
ISO
RGD
PMID:34007068
RGD:401938608
NCBI chr10:55,146,887...55,154,854
Ensembl chr10:55,146,818...55,154,850
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Aspm
assembly factor for spindle microtubules
ISO
mRNA:increased expression:brain:
RGD
PMID:18636190
RGD:13439742
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:9054948 PMID:19781682 PMID:23322442 PMID:23807571 PMID:25525159 PMID:25614872 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atrx
ATRX, chromatin remodeler
disease_progression
ISO
ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
ClinVar RGD
PMID:27478330
RGD:13442489
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Bag3
BAG cochaperone 3
treatment
IMP
RGD
PMID:21561597
RGD:5687132
NCBI chr 1:183,103,038...183,126,862
Ensembl chr 1:183,102,871...183,126,858
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2317787
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Becn1
beclin 1
disease_progression
ISO
RGD
PMID:20863706
RGD:6483102
NCBI chr10:86,231,387...86,246,742
Ensembl chr10:86,231,388...86,246,742
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Bhlhe40
basic helix-loop-helix family, member e40
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23582323
NCBI chr 4:141,618,453...141,624,154
Ensembl chr 4:141,618,476...141,624,774
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Birc3
baculoviral IAP repeat-containing 3
exacerbates
ISO
mRNA:increased expression:brain (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19823589
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
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:14679157 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:17374713 PMID:17488796 PMID:17785355 PMID:18039235 PMID:18398503 PMID:18413255 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19376813 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 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:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24033266 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25463315 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28492532 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 PMID:34476331 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Brd2
bromodomain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27388964
NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
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Brd4
bromodomain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26455392 PMID:27388964
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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Brd7
bromodomain containing 7
ISO
protein:increased expression:brain:
RGD
PMID:24404152
RGD:9586441
NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494
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C8h11orf65
similar to human chromosome 11 open reading frame 65
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:9054948 PMID:19781682 PMID:23322442 PMID:23807571 PMID:25525159 PMID:25614872 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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Cbx6
chromobox 6
disease_progression
ISO
mRNA,protein:decreased expression:astrocyte:
RGD
PMID:24260522
RGD:9587354
NCBI chr 7:111,372,979...111,383,026
Ensembl chr 7:111,372,980...111,383,091
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Cbx7
chromobox 7
disease_progression
ISO
mRNA,protein:decreased expression:astrocyte:
RGD
PMID:24260522
RGD:9587354
NCBI chr 7:111,460,656...111,479,231
Ensembl chr 7:111,460,656...111,477,973
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Cbx8
chromobox 8
ISO
mRNA:increased expression:astrocyte:
RGD
PMID:24260522
RGD:9587354
NCBI chr10:104,294,518...104,296,956
Ensembl chr10:104,294,518...104,297,024
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Ccnh
cyclin H
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 2:15,835,064...15,855,648
Ensembl chr 2:15,834,833...15,855,819
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Cd9
CD9 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26573230
NCBI chr 4:158,256,328...158,289,136
Ensembl chr 4:158,256,328...158,289,222
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Cdk4
cyclin-dependent kinase 4
ISO
DNA:amplication
RGD
PMID:23796897
RGD:13702089
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cdk6
cyclin-dependent kinase 6
severity
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20534551 PMID:10884881
RGD:13702095
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
treatment
ISO
RGD
PMID:10720483
RGD:8552659
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2a_v1
cyclin-dependent kinase inhibitor 2A, variant 1
treatment
ISO
RGD
PMID:10720483
RGD:8552659
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Chaf1b
chromatin assembly factor 1 subunit B
ISO
protein:increased expression:brain:
RGD
PMID:24039914
RGD:9587472
NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
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Chi3l1
chitinase 3 like 1
ISO
mRNA:increased expression:brain, tumor (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21029458 PMID:11161003
RGD:4892621
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Cpeb1
cytoplasmic polyadenylation element binding protein 1
disease_progression
IMP
RGD
PMID:23360795
RGD:9685152
NCBI chr 1:135,300,048...135,407,688
Ensembl chr 1:135,300,461...135,409,760
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Csta
cystatin A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22287159
NCBI chr11:64,620,483...64,631,488
Ensembl chr11:64,620,483...64,631,488
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Cstb
cystatin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22287159
NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
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Ctnnd2
catenin delta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23917401
NCBI chr 2:81,168,525...82,016,495
Ensembl chr 2:81,167,117...82,015,764
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Ctsb
cathepsin B
ISO
protein:increased expression:glioma cell (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22287159 PMID:17898873
RGD:2315515
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Ctsh
cathepsin H
ISO
protein:increased expression:brain
RGD
PMID:8640738
RGD:1549417
NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
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Ctsk
cathepsin K
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25356585
NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550
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Deup1
deuterosome assembly protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 8:12,380,300...12,442,649
Ensembl chr 8:12,380,302...12,442,199
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Dmbt1
deleted in malignant brain tumors 1
ISO
DNA:deletion
RGD
PMID:9288095
RGD:1599778
NCBI chr 1:185,617,469...185,696,476
Ensembl chr 1:185,617,294...185,696,478
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Dnmt3a
DNA methyltransferase 3 alpha
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
NCBI chr 6:26,791,517...26,902,161
Ensembl chr 6:26,822,609...26,896,687
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Dusp6
dual specificity phosphatase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499306
NCBI chr 7:34,092,848...34,097,186
Ensembl chr 7:34,092,943...34,097,185
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E2f1
E2F transcription factor 1
disease_progression
ISO
RGD
PMID:16264179
RGD:13702471
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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Egf
epidermal growth factor
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:polymorphism:promoter:+61A>G(human)
CTD RGD
PMID:16598420 PMID:22481252
RGD:13702472
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma multiforme, somatic
CTD ClinVar
PMID:2302402 PMID:15118073 PMID:15118125 PMID:15329413 PMID:15710947 PMID:15738541 PMID:16011858 PMID:16115929 PMID:17177598 PMID:18199554 PMID:18458038 PMID:19204207 PMID:19536777 PMID:19671738 PMID:19922469 PMID:20479403 PMID:21531810 PMID:21841502 PMID:22753918 PMID:23102728 PMID:23242437 PMID:23917401 PMID:23945392 PMID:24033266 PMID:25157968 PMID:26455392 PMID:26619011 PMID:31396478 More...
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Enpp1
ectonucleotide pyrophosphatase/phosphodiesterase 1
severity
ISO
protein:increased expression:brain (human)
RGD
PMID:21195542
RGD:13204719
NCBI chr 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
treatment
ISO
RGD
PMID:25595591
RGD:14928319
NCBI chr 4:76,624,399...76,687,362
Ensembl chr 4:76,624,399...76,687,362
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Fabp7
fatty acid binding protein 7
severity
ISO
mRNA, protein:increased expression:brain (human)
RGD
PMID:15827123
RGD:1578468
NCBI chr20:37,123,193...37,126,725
Ensembl chr20:37,123,193...37,126,880
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Fam83d
family with sequence similarity 83, member D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35150198
NCBI chr 3:147,421,941...147,441,211
Ensembl chr 3:147,421,908...147,441,192
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Fat1
FAT atypical cadherin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23354438
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:26619011
NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:25705862 PMID:26619011 PMID:26942290 PMID:33448156
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Flt3lg
Fms related receptor tyrosine kinase 3 ligand
treatment
ISO
RGD
PMID:18079358
RGD:11049502
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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Fn1
fibronectin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17099729
NCBI chr 9:73,196,044...73,264,695
Ensembl chr 9:73,196,044...73,264,678
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Fosl2
FOS like 2, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23582323
NCBI chr 6:24,297,898...24,319,219
Ensembl chr 6:24,300,956...24,320,034
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Fxn
frataxin
ISO
RGD
PMID:21863062
RGD:401793715
NCBI chr 1:221,874,007...221,897,543
Ensembl chr 1:221,872,420...221,897,540
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Gdnf
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138852
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Grik2
glutamate ionotropic receptor kainate type subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375
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Gstt1
glutathione S-transferase theta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16874663
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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H2ax
H2A.X variant histone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26651356
NCBI chr 8:44,671,907...44,673,262
Ensembl chr 8:44,671,786...44,673,239
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H3f3a
H3.3 histone A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioblastoma
CTD ClinVar
PMID:22286216 PMID:23817572 PMID:26619011 PMID:26822237
NCBI chr13:92,533,289...92,544,902
Ensembl chr13:92,533,298...92,544,908
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Heatr1
HEAT repeat containing 1
ISO
mRNA, protein:increased expression:brain
RGD
PMID:25126583
RGD:10761721
NCBI chr17:58,053,288...58,093,895
Ensembl chr17:58,051,700...58,093,948
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Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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Hey1
hes-related family bHLH transcription factor with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12811834
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Hoxd10
homeo box D10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34737577
NCBI chr 3:59,594,516...59,597,725
Ensembl chr 3:59,594,516...59,597,725
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Hras
HRas proto-oncogene, GTPase
severity
ISO
DNA:missense mutation:cds:p.G61L(human) ClinVar Annotator: match by term: Glioblastoma
ClinVar RGD
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: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:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:33372952 PMID:34008892 PMID:20879984 PMID:19179066 More...
RGD:13702475 , RGD:13702872
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
disease_progression onset
ISO
DNA:mutation:cds:p.R132(human) ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic DNA:mutation:cds:p.R132H(human)
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:25495392 PMID:19765000 More...
RGD:11074562 , RGD:11522732
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Il16
interleukin 16
IEP
protein:increased expression:brain
RGD
PMID:17221335
RGD:5024941
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16356833
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Il2
interleukin 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:7719933
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Jag1
jagged canonical Notch ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
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Jag2
jagged canonical Notch ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 6:131,983,059...132,005,665
Ensembl chr 6:131,983,056...132,005,818
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Kcnc2
potassium voltage-gated channel subfamily C member 2
ISO
mRNA:splice variant (human)
RGD
PMID:18474104
RGD:9686067
NCBI chr 7:47,700,035...47,883,979
Ensembl chr 7:47,700,288...47,883,968
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Kdr
kinase insert domain receptor
treatment
ISO
RGD
PMID:26325365
RGD:11529678
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Kras
KRAS proto-oncogene, GTPase
treatment
ISO
mRNA:decreased expression:brain
RGD
PMID:16166301 PMID:19179066
RGD:13702861 , RGD:13702872
NCBI chr 4:178,185,418...178,218,484
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L1cam
L1 cell adhesion molecule
ISO
mRNA:decreased expression:brain, temporal lobe (human)
RGD
PMID:20419098
RGD:6483067
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Glioblastoma
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: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:25815234 PMID:25914166 PMID:26467025 PMID:26619011 PMID:26778095 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:30055033 PMID:30138938 PMID:31394527 PMID:31560489 PMID:31564432 PMID:31775759 PMID:32165824 PMID:32371413 PMID:33372952 PMID:34008892 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Lrrc59
leucine rich repeat containing 59
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr10:79,572,295...79,586,953
Ensembl chr10:79,572,317...79,602,533
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Ltbp4
latent transforming growth factor beta binding protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27270107
NCBI chr 1:82,600,136...82,634,346
Ensembl chr 1:82,600,136...82,632,178
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Lztr1
leucine zipper like post translational regulator 1
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human)
CTD RGD
PMID:23917401 PMID:23917401
RGD:151708722
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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Macir
macrophage immunometabolism regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 9:98,420,760...98,440,818
Ensembl chr 9:98,420,376...98,441,733
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Map1lc3a
microtubule-associated protein 1 light chain 3 alpha
treatment
ISO
RGD
PMID:24905460
RGD:11561946
NCBI chr 3:143,783,024...143,784,670
Ensembl chr 3:143,783,024...143,784,670
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Map2k2
mitogen activated protein kinase kinase 2
treatment
ISO
RGD
PMID:26189368
RGD:13702862
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
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Map2k3
mitogen activated protein kinase kinase 3
disease_progression
ISO
protein:increased expression, increased phosphorylation:brain
RGD
PMID:17406030
RGD:1641940
NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492
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Mdm2
MDM2 proto-oncogene
ISO
DNA:amplication
RGD
PMID:23796897
RGD:13702089
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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Mdm4
MDM4 regulator of p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20472715
NCBI chr13:44,432,596...44,516,165
Ensembl chr13:44,406,213...44,474,226
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:26822237
NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22162573
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:transition:cds:p.L84F (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20131314 PMID:22162573 PMID:14669534
RGD:2317667
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Mir21
microRNA 21
ameliorates
IMP
RGD
PMID:31730913
RGD:41404645
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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Mir31
microRNA 31
ISO
RNA:decreased expression:brain (human)
RGD
PMID:22089331
RGD:152998941
NCBI chr 5:103,599,038...103,599,143
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Mmp2
matrix metallopeptidase 2
severity
ISO
protein:increased expression:brain (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16598420 PMID:7616276
RGD:7207145
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mmp7
matrix metallopeptidase 7
severity
ISO
protein:increased expression:brain (human)
RGD
PMID:7616276
RGD:7207145
NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902
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Mmp9
matrix metallopeptidase 9
severity treatment
ISO
protein:increased expression:brain (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16598420 PMID:7616276 PMID:12439751
RGD:7207145 , RGD:8547973
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:25741868
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
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Mtor
mechanistic target of rapamycin kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioblastoma
CTD ClinVar
PMID:20190810 PMID:22729223 PMID:24631838 PMID:25599672 PMID:25741868 PMID:25799227 PMID:26018084 PMID:26619011 PMID:27159400 PMID:27830187 PMID:28492532 PMID:28864461 PMID:28892148 PMID:29281825 PMID:30705370 More...
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:26619011
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Ncor1
nuclear receptor co-repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17312396
NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032
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Ndrg1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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Ndrg4
NDRG family member 4
ISO
mRNA, protein:decreased expression:brain
RGD
PMID:22489821
RGD:7247726
NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914
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Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Nfkbia
NFKB inhibitor alpha
treatment
ISO
human cell line in a mouse model
RGD
PMID:15692608
RGD:127285387
NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Notch2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Notch3
notch receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025
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Nras
NRAS proto-oncogene, GTPase
ISO
DNA:mutation:cds:c.35G>A, p.G12D(human) ClinVar Annotator: match by term: Glioblastoma DNA:amplication::
ClinVar RGD
PMID:1654209 PMID:2278970 PMID:2674680 PMID:3122217 PMID:6587382 PMID:8120410 PMID:10821536 PMID:12460918 PMID:12727991 PMID:14508525 PMID:15899789 PMID:16273091 PMID:16291983 PMID:16434492 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19075190 PMID:19657110 PMID:19880792 PMID:19966803 PMID:20130576 PMID:20149136 PMID:20179705 PMID:20406486 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21576590 PMID:21729679 PMID:21829508 PMID:22407852 PMID:22499344 PMID:22718121 PMID:22761467 PMID:22773810 PMID:23076151 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24006476 PMID:24033266 PMID:24148783 PMID:24370118 PMID:24671188 PMID:25157968 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 PMID:15517309 PMID:11351043 More...
RGD:13702875 , RGD:13702876
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Pdgfb
platelet derived growth factor subunit B
ISO
RGD
PMID:21210235
RGD:6482799
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pdgfrb
platelet derived growth factor receptor beta
treatment
ISO
RGD
PMID:24566984
RGD:13702903
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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Pdpn
podoplanin
ISO
RGD
PMID:16979138
RGD:2292241
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
RGD
PMID:21858729
RGD:6771207
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Pgf
placental growth factor
disease_progression
ISO
RGD
PMID:20458050
RGD:6483585
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20581867 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23246288 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27283355 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31568861 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
disease_progression
ISO
RGD
PMID:26956052 PMID:21188471
RGD:11343921 , RGD:13782050
NCBI chr 8:99,594,600...99,699,772
Ensembl chr 8:99,594,644...99,699,663
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Pik3cd
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
disease_progression
ISO
RGD
PMID:24523440
RGD:13782051
NCBI chr 5:160,094,952...160,142,962
Ensembl chr 5:160,094,952...160,120,930
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:19962457 PMID:25157968 PMID:26619011
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Pim1
Pim-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23724780
NCBI chr20:7,554,921...7,559,174
Ensembl chr20:7,554,921...7,559,174
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Pml
PML nuclear body scaffold
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23440206
NCBI chr 8:58,627,347...58,661,927
Ensembl chr 8:58,628,837...58,658,971
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Pole
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar
PMID:25228659 PMID:26619011 PMID:27573199 PMID:28492532 PMID:29352080
NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
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Polk
DNA polymerase kappa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26651356
NCBI chr 2:27,822,228...27,882,331
Ensembl chr 2:27,822,679...27,882,313
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Pparg
peroxisome proliferator-activated receptor gamma
ISO
ClinVar Annotator: match by term: Glioblastoma, somatic
ClinVar
PMID:9467001 PMID:10381354 PMID:10523018 PMID:10690291 PMID:10851250 PMID:14569127 PMID:14616762 PMID:14671186 PMID:28492532 More...
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Prkn
parkin RBR E3 ubiquitin protein ligase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19946270
NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
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Prom1
prominin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18679414 PMID:18829568 PMID:19718438
NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Glioblastoma
ClinVar RGD
PMID:1336932 PMID:1945792 PMID:9140396 PMID:9241266 PMID:9259288 PMID:9399897 PMID:9467011 PMID:9598803 PMID:9915974 PMID:10400993 PMID:10555148 PMID:10866302 PMID:10920277 PMID:10923032 PMID:11051241 PMID:11504908 PMID:11875759 PMID:11948419 PMID:15016963 PMID:15211648 PMID:15254419 PMID:15647370 PMID:16773562 PMID:16952599 PMID:17526800 PMID:17526801 PMID:17873882 PMID:17942903 PMID:18558293 PMID:18725974 PMID:18767981 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20453058 PMID:20619739 PMID:20881644 PMID:20926450 PMID:21190448 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22479427 PMID:22491738 PMID:22595938 PMID:23335809 PMID:23349303 PMID:23361946 PMID:23399955 PMID:23470840 PMID:23475934 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25288137 PMID:25527629 PMID:25741868 PMID:26467025 PMID:26619011 PMID:26773036 PMID:26798346 PMID:27147599 PMID:27426521 PMID:27477328 PMID:27535533 PMID:28286253 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28677221 PMID:29359449 PMID:29706350 PMID:30311380 PMID:30528446 PMID:30614812 PMID:31159747 PMID:31336731 PMID:32350270 PMID:32442409 PMID:33077954 PMID:35227301 PMID:36988593 PMID:16847462 More...
RGD:2290476
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptgs1
prostaglandin-endoperoxide synthase 1
disease_progression
ISO IEP
protein:increased expression:microglia, macrophage,
RGD
PMID:11121536 PMID:10229132
RGD:5688245 , RGD:5688250
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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Ptgs2
prostaglandin-endoperoxide synthase 2
disease_progression
ISO IEP
protein:increased expression:endothelial cell
RGD
PMID:11121536 PMID:10229132
RGD:5688245 , RGD:5688250
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptk2
protein tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12811834
NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
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Ptn
pleiotrophin
ISO
protein:increased expression:brain (human)
RGD
PMID:14692702
RGD:151660507
NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456
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Ptprb
protein tyrosine phosphatase, receptor type, B
treatment
ISO
human cells in mouse model protein:increased expression:brain (human)
RGD
PMID:16489031 PMID:15831233 PMID:14692702
RGD:151660504 , RGD:151664746 , RGD:151660507
NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748
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Rb1
RB transcriptional corepressor 1
severity
ISO
DNA:hypermethylation:promoter:
RGD
PMID:11204276
RGD:13782067
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Reck
reversion-inducing-cysteine-rich protein with kazal motifs
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20127710
NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502
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Rpl35a
ribosomal protein L35A
ISO
mRNA:increased expression:brain (human)
RGD
PMID:10880769
RGD:11535077
NCBI chr11:67,726,031...67,729,953
Ensembl chr11:67,726,032...67,729,942 Ensembl chr 5:67,726,032...67,729,942
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Rpl5
ribosomal protein L5
ISO
DNA:mutations:multiple (human)
RGD
PMID:26892688
RGD:11535147
NCBI chr14:1,843,856...1,850,301
Ensembl chr14:1,843,770...1,850,290
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Runx1
RUNX family transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23582323
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Runx3
RUNX family transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16909125
NCBI chr 5:147,360,587...147,419,161
Ensembl chr 5:147,360,994...147,419,156
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Septin14
septin 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23917401
NCBI chr12:26,975,283...27,005,588
Ensembl chr12:26,975,344...26,998,299
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Serping1
serpin family G member 1
treatment
IMP
RGD
PMID:28880870
RGD:13525003
NCBI chr 3:69,842,726...69,852,583
Ensembl chr 3:69,842,739...69,852,034
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Slc22a22
solute carrier family 22 member 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 7:88,720,425...88,750,111
Ensembl chr 7:88,720,427...88,750,111
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:16496379
RGD:151361115
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Slx4
SLX4 structure-specific endonuclease subunit
ISO
ClinVar Annotator: match by term: Glioblastoma multiforme
ClinVar
PMID:25741868
NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295
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Srrt
serrate, RNA effector molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30542699
NCBI chr12:19,392,578...19,406,098
Ensembl chr12:19,392,625...19,406,095
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Stat3
signal transducer and activator of transcription 3
disease_progression
ISO
mRNA, protein:increased expression:brain (human)
RGD
PMID:31783691
RGD:151667907
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
G
Stat5a
signal transducer and activator of transcription 5A
disease_progression treatment
ISO
mRNA, protein:increased expression:brain (human) human cells in mouse model
RGD
PMID:31783691 PMID:31783691
RGD:151667907 , RGD:151667907
NCBI chr10:85,785,537...85,809,869
Ensembl chr10:85,785,537...85,809,866
G
Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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Tes
testin LIM domain protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16909125
NCBI chr 4:45,365,304...45,403,829
Ensembl chr 4:45,365,285...45,403,829
G
Tgm2
transglutaminase 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:16170020 PMID:17099729
NCBI chr 3:146,772,684...146,801,924
Ensembl chr 3:146,772,687...146,801,981
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Tmem135
transmembrane protein 135
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 1:143,006,343...143,279,824
Ensembl chr 1:143,006,344...143,221,171
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Tnc
tenascin C
ISO
RGD
PMID:16928692
RGD:4889612
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
G
Tnfsf10
TNF superfamily member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21877938
NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
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Tp53
tumor protein p53
ISS ISO
ClinVar Annotator: match by term: Glioblastoma | ClinVar Annotator: match by term: Glioblastoma, somatic
MouseDO ClinVar
PMID:253702 PMID:960674 PMID:1349175 PMID:1359493 PMID:1467311 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1679237 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2259385 PMID:2531845 PMID:2554494 PMID:2654466 PMID:2750177 PMID:3784963 PMID:4122735 PMID:6736287 PMID:7565304 PMID:7651740 PMID:7707106 PMID:7732013 PMID:7737263 PMID:7783166 PMID:7791795 PMID:7885831 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8276238 PMID:8336941 PMID:8401536 PMID:8402598 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8825920 PMID:8829627 PMID:8869100 PMID:9020384 PMID:9047394 PMID:9049183 PMID:9150393 PMID:9157982 PMID:9218725 PMID:9242456 PMID:9268986 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9446663 PMID:9525742 PMID:9536098 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9607760 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9681828 PMID:9704930 PMID:9825943 PMID:9839505 PMID:9891044 PMID:10064694 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10713666 PMID:10761705 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10871862 PMID:10922393 PMID:10949938 PMID:11051239 PMID:11101847 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11420676 PMID:11429705 PMID:11479205 PMID:11590071 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12034820 PMID:12406399 PMID:12506399 PMID:12509279 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12695689 PMID:12700230 PMID:12726864 PMID:12826609 PMID:12885464 PMID:12909720 PMID:12917626 PMID:14584079 PMID:14673037 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15850016 PMID:15925506 PMID:15951970 PMID:15958617 PMID:15977174 PMID:15982667 PMID:16199549 PMID:16206219 PMID:16209708 PMID:16258005 PMID:16312222 PMID:16322298 PMID:16337994 PMID:16401470 PMID:16489069 PMID:16492679 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16633321 PMID:16682957 PMID:16736287 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17170001 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17535973 PMID:17540308 PMID:17541742 PMID:17567834 PMID:17572079 PMID:17576681 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17724467 PMID:17875924 PMID:17881637 PMID:18208484 PMID:18307025 PMID:18391940 PMID:18453682 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:18818522 PMID:18937320 PMID:18989156 PMID:19012332 PMID:19101993 PMID:19127115 PMID:19147582 PMID:19171880 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19405127 PMID:19454241 PMID:19462533 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19681600 PMID:19711436 PMID:19714490 PMID:19850740 PMID:19881536 PMID:19913028 PMID:19930417 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20234365 PMID:20364130 PMID:20407015 PMID:20436704 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20589832 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:20878954 PMID:20972454 PMID:21059199 PMID:21113594 PMID:21115975 PMID:21118481 PMID:21159183 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21348412 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21619694 PMID:21626334 PMID:21665182 PMID:21672450 PMID:21674059 PMID:21747090 PMID:21761402 PMID:22006311 PMID:22052707 PMID:22110706 PMID:22114072 PMID:22170717 PMID:22186996 PMID:22198284 PMID:22233476 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22710932 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22768918 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22983585 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23265383 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23612969 PMID:23624782 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23792586 PMID:23887774 PMID:23894400 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24122735 PMID:24307375 PMID:24381225 PMID:24382691 PMID:24384472 PMID:24487413 PMID:24501221 PMID:24549055 PMID:24573247 PMID:24590827 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24810334 PMID:24835218 PMID:24857548 PMID:25059482 PMID:25119136 PMID:25157968 PMID:25186627 PMID:25256166 PMID:25293557 PMID:25294809 PMID:25339994 PMID:25404506 PMID:25433984 PMID:25503501 PMID:25504633 PMID:25516983 PMID:25525159 PMID:25584008 PMID:25584637 PMID:25612911 PMID:25619955 PMID:25634208 PMID:25669829 PMID:25691460 PMID:25741868 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:25980754 PMID:26014290 PMID:26022348 PMID:26024390 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26270727 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26534844 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26718964 PMID:26781615 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:26878390 PMID:26911350 PMID:26976419 PMID:27022024 PMID:27077130 PMID:27153395 PMID:27179933 PMID:27189670 PMID:27276561 PMID:27276934 PMID:27374712 PMID:27463065 PMID:27493922 PMID:27501770 PMID:27516001 PMID:27523101 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28160093 PMID:28279309 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28802053 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29025599 PMID:29058119 PMID:29070607 PMID:29076966 PMID:29126202 PMID:29300620 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29581140 PMID:29752822 PMID:29753700 PMID:29958926 PMID:29979965 PMID:30076369 PMID:30099178 PMID:30107858 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30299350 PMID:30306255 PMID:30311369 PMID:30322717 PMID:30327374 PMID:30352134 PMID:30450585 PMID:30546832 PMID:30583724 PMID:30630526 PMID:30675318 PMID:30709381 PMID:30709875 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:30918304 PMID:31016814 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31168460 PMID:31206626 PMID:31296311 PMID:31494577 PMID:31742824 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32019277 PMID:32126783 PMID:32156018 PMID:32164171 PMID:32179180 PMID:32187361 PMID:32295079 PMID:32318955 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:33087929 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33332384 PMID:33372952 PMID:33407742 PMID:33471991 PMID:33633026 PMID:33818021 PMID:33840814 PMID:34026625 PMID:34299313 PMID:34308366 PMID:34529667 PMID:34709361 PMID:34793666 PMID:34994652 PMID:35033608 PMID:35127508 PMID:35938033 PMID:35974385 PMID:36219266 PMID:36329109 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tp53bp1
tumor protein p53 binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 3:108,166,574...108,270,229
Ensembl chr 3:108,169,980...108,269,822
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Trmt11
tRNA methyltransferase 11 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30705370
NCBI chr 1:27,054,437...27,109,765
Ensembl chr 1:27,054,420...27,201,610
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16356833
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20820871
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:SNP:exon 10: p.R399Q (human)
RGD
PMID:18330515
RGD:401827274
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Zbtb7a
zinc finger and BTB domain containing 7a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25875864
NCBI chr 7:8,561,015...8,578,243
Ensembl chr 7:8,563,779...8,576,539
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Rb1
RB transcriptional corepressor 1
ISO
RNA:decreased expression:brain:
RGD
PMID:22157621
RGD:13782062
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Ccl2
C-C motif chemokine ligand 2
severity
ISO
mouse gene in a rat model
RGD
PMID:7489565
RGD:11526112
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Cyp2b3
cytochrome P450, family 2, subfamily b, polypeptide 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9766669 PMID:11389073
NCBI chr 1:81,652,762...81,732,153
Ensembl chr 1:81,652,787...81,732,143
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Cyp2c11
cytochrome P450, subfamily 2, polypeptide 11
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9766669
NCBI chr 1:236,762,719...236,799,069
Ensembl chr 1:236,762,842...236,799,066
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Plau
plasminogen activator, urokinase
severity
ISO
mouse gene in rat model
RGD
PMID:20606645
RGD:7241591
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Por
cytochrome p450 oxidoreductase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9766669
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
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Ptgs1
prostaglandin-endoperoxide synthase 1
IEP
protein:increased expression:microglia, macrophage,
RGD
PMID:10229132
RGD:5688250
NCBI chr 3:19,584,015...19,605,589
Ensembl chr 3:19,584,015...19,605,586
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Ptgs2
prostaglandin-endoperoxide synthase 2
IEP
protein:increased expression:endothelial cell
RGD
PMID:10229132
RGD:5688250
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16533777
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Btc
betacellulin
ISO
protein:increased expression:pancreas
RGD
PMID:10724350
RGD:2326087
NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
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Men1
menin 1
ISO
DNA:deletion:exon CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:17961653 PMID:20138042
RGD:2317288
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Slc2a2
solute carrier family 2 member 2
ISO
mRNA:decreased expression:pancreatic islet
RGD
PMID:12114701 PMID:8421107
RGD:2324976 , RGD:2324977
NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
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Sstr4
somatostatin receptor 4
ISO
RGD
PMID:8132773
RGD:2324994
NCBI chr 3:135,854,826...135,856,689
Ensembl chr 3:135,854,826...135,856,689
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: Somatotroph adenoma
ClinVar
PMID:2200621 PMID:5320367 PMID:9482716 PMID:9536098 PMID:12213383 PMID:12810716 PMID:16728643 PMID:17242703 PMID:17244780 PMID:17299063 PMID:17341560 PMID:17360484 PMID:17371465 PMID:17576681 PMID:17609395 PMID:18381572 PMID:18410548 PMID:18484068 PMID:19366855 PMID:19474519 PMID:19556287 PMID:19684062 PMID:19955762 PMID:20354355 PMID:20457215 PMID:20506337 PMID:20507346 PMID:20530095 PMID:20570174 PMID:20595802 PMID:20685857 PMID:21208107 PMID:21340166 PMID:21348957 PMID:21454441 PMID:21512261 PMID:21753072 PMID:21984905 PMID:22287093 PMID:22319033 PMID:22720333 PMID:22915287 PMID:23038625 PMID:23038925 PMID:23300914 PMID:23321498 PMID:23371967 PMID:23633209 PMID:23743763 PMID:24033266 PMID:24050928 PMID:24078436 PMID:24423289 PMID:24789813 PMID:25019383 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25350067 PMID:25614825 PMID:25741868 PMID:26186299 PMID:26792934 PMID:27033541 PMID:27153395 PMID:27253664 PMID:27267386 PMID:27650164 PMID:28220018 PMID:28255869 PMID:28427099 PMID:28492532 PMID:28634279 PMID:29036195 PMID:29074612 PMID:29308445 PMID:29455389 PMID:29507682 PMID:29632148 PMID:29729370 PMID:30262796 PMID:30461320 PMID:30822274 PMID:30941100 PMID:32324286 PMID:34588620 PMID:35586626 More...
NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:pituitary gland:
RGD
PMID:18981426
RGD:8662821
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Gh1
growth hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1611713 PMID:2042694
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11254676
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Gpr101
G protein-coupled receptor 101
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
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Hpgd
15-hydroxyprostaglandin dehydrogenase
ISO
mRNA:decreased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
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Men1
menin 1
ISS ISO
OMIM:102200 ClinVar Annotator: match by term: Somatotroph adenoma
MouseDO ClinVar
PMID:30630164
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2042694
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
mRNA:increased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Gpr101
G protein-coupled receptor 101
ISO
ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2
OMIM ClinVar
PMID:25470569 PMID:25806919 PMID:25806920 PMID:25806921 PMID:26792934 PMID:26815903 PMID:27245663 PMID:27498687 PMID:28492532 PMID:29389097 More...
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
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Runx1
RUNX family transcription factor 1
ISO
ClinVar Annotator: match by term: Malignant ependymoma
ClinVar
PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 PMID:29365323 More...
NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Abcb1b
ATP-binding cassette, sub-family B member 1B
IDA
RGD
PMID:16574265
RGD:1598564
NCBI chr 4:25,242,761...25,325,194
Ensembl chr 4:25,242,798...25,325,199
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Acvr1
activin A receptor type 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma
CTD ClinVar
PMID:818090 PMID:7068725 PMID:19085907 PMID:19330033 PMID:22977237 PMID:24705250 PMID:24705251 PMID:24705252 PMID:24705254 PMID:25326637 PMID:25741868 PMID:26619011 PMID:31779674 More...
NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
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Adgra2
adhesion G protein-coupled receptor A2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr16:64,932,964...64,971,433
Ensembl chr16:64,933,315...64,971,483
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Akt2
AKT serine/threonine kinase 2
ISO IDA
protein:increased expression:cytoplasm (human)
RGD
PMID:19330838 PMID:19330838
RGD:2313297 , RGD:2313297
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
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Amotl1
angiomotin-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34480788
NCBI chr 8:11,348,651...11,467,564
Ensembl chr 8:11,353,674...11,467,573
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Angpt2
angiopoietin 2
IEP
protein:increased expression:brain (rat)
RGD
PMID:18615861
RGD:2314189
NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Apod
apolipoprotein D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16865689
NCBI chr11:69,431,261...69,452,306
Ensembl chr11:69,431,260...69,452,305
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Araf
A-Raf proto-oncogene, serine/threonine kinase
disease_progression
ISO
RGD
PMID:27852048
RGD:13702476
NCBI chr X:1,227,392...1,292,356
Ensembl chr X:1,227,392...1,239,073
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Areg
amphiregulin
IMP
RGD
PMID:8621257
RGD:2292668
NCBI chr14:16,972,185...16,981,443
Ensembl chr14:16,972,187...16,981,535
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Arhgap32
Rho GTPase activating protein 32
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 8:30,421,269...30,681,653
Ensembl chr 8:30,421,515...30,678,454
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Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Arl2
ADP-ribosylation factor like GTPase 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,434,129...203,446,156
Ensembl chr 1:203,434,129...203,446,119
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Aspm
assembly factor for spindle microtubules
disease_progression
ISO
mRNA:increased expression:brain:
RGD
PMID:20142996
RGD:13442488
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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Atf5
activating transcription factor 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28861715
NCBI chr 1:95,295,602...95,299,755
Ensembl chr 1:95,295,610...95,299,707
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Atg2a
autophagy related 2A
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,542,559...203,562,242
Ensembl chr 1:203,542,559...203,562,242
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Atg7
autophagy related 7
treatment
IDA
RGD
PMID:25542083
RGD:11557994
NCBI chr 4:147,718,663...147,925,656
Ensembl chr 4:147,718,752...147,925,593
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Malignant glioma
ClinVar
PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 PMID:10817650 PMID:10980530 PMID:11298136 PMID:12552559 PMID:21445571 PMID:21459046 PMID:21792198 PMID:25741868 PMID:26681312 PMID:28492532 PMID:29478780 PMID:30549301 PMID:33471991 More...
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atp1b2
ATPase Na+/K+ transporting subunit beta 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16865689
NCBI chr10:54,318,698...54,324,933
Ensembl chr10:54,318,701...54,324,933
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Atrx
ATRX, chromatin remodeler
ISO
DNA:mutations: :multiple CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23583981 PMID:24705251 PMID:23104868
RGD:11040587
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Bad
BCL2-associated agonist of cell death
IEP ISO
protein:increased phosphorylation:brain (rat) ClinVar Annotator: match by term: Ependymoma
ClinVar RGD
PMID:16944316
RGD:2292675
NCBI chr 1:204,133,502...204,142,829
Ensembl chr 1:204,131,501...204,142,823
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Banp
Btg3 associated nuclear protein
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
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Bap1
Brca1 associated protein 1
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Barhl1
BarH-like homeobox 1
ISO
protein:increased expression:brain:
RGD
PMID:28956815
RGD:14390165
NCBI chr 3:12,241,327...12,248,649
Ensembl chr 3:12,241,327...12,248,649
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Batf2
basic leucine zipper ATF-like transcription factor 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,467,291...203,479,428
Ensembl chr 1:203,468,097...203,475,889
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Bcan
brevican
severity
IEP ISO IDA
protein:increased expression:brain:
RGD
PMID:12799382 PMID:23253190 PMID:16061654 PMID:11585735
RGD:14392782 , RGD:14392804 , RGD:14392797 , RGD:14392783
NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
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Bdkrb2
bradykinin receptor B2
IEP
mRNA:increased expression:brain
RGD
PMID:20080302
RGD:4891047
NCBI chr 6:124,472,317...124,502,497
Ensembl chr 6:124,472,566...124,502,497
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Birc5
baculoviral IAP repeat-containing 5
IEP
protein:increased expression:brain
RGD
PMID:17701349
RGD:2293131
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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Bmi1
BMI1 proto-oncogene, polycomb ring finger
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23383216
NCBI chr17:81,332,175...81,341,625
Ensembl chr17:81,332,214...81,388,690
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma
CTD ClinVar
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:14679157 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:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19001320 PMID:19010912 PMID:19018267 PMID:19238210 PMID:19404918 PMID:19537845 PMID:19561230 PMID:19571295 PMID:20008640 PMID:20350999 PMID:20413299 PMID:20619739 PMID:20630094 PMID:20818844 PMID:20823850 PMID:20857202 PMID:21107320 PMID:21107323 PMID:21129611 PMID:21156289 PMID:21163703 PMID:21426297 PMID:21483012 PMID:21502544 PMID:21639808 PMID:21641636 PMID:21683865 PMID:21975775 PMID:22038996 PMID:22039425 PMID:22048237 PMID:22113612 PMID:22180495 PMID:22281684 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:22805292 PMID:22972589 PMID:22997239 PMID:23020132 PMID:23031422 PMID:23251002 PMID:23302800 PMID:23325582 PMID:23470635 PMID:23524406 PMID:23549875 PMID:23583981 PMID:23614898 PMID:23685455 PMID:23812671 PMID:23833300 PMID:23845441 PMID:23918947 PMID:24107445 PMID:24112392 PMID:24163374 PMID:24388723 PMID:24508103 PMID:24512911 PMID:24576830 PMID:24583796 PMID:24586605 PMID:24594804 PMID:24670642 PMID:24717435 PMID:25024077 PMID:25037139 PMID:25079330 PMID:25157968 PMID:25265492 PMID:25265494 PMID:25370471 PMID:25399551 PMID:25741868 PMID:25950823 PMID:25989278 PMID:26619011 PMID:26678033 PMID:27404270 PMID:27480103 PMID:28854169 PMID:28891408 PMID:29925953 PMID:31779674 PMID:31891627 PMID:34476331 More...
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Brca2
BRCA2, DNA repair associated
susceptibility
ISO
ClinVar Annotator: match by term: Glioma susceptibility 3 ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 PMID:9150172 PMID:9150174 PMID:9667259 PMID:9792861 PMID:10644434 PMID:10660329 PMID:10790213 PMID:10978364 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11389159 PMID:11400546 PMID:11597388 PMID:11802209 PMID:11843247 PMID:11857748 PMID:12065746 PMID:12373604 PMID:12655567 PMID:12845657 PMID:12955716 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15024741 PMID:15070707 PMID:15131399 PMID:15168169 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16030099 PMID:16168118 PMID:16168123 PMID:16199547 PMID:16284991 PMID:16389418 PMID:16455195 PMID:16683254 PMID:16758124 PMID:16825431 PMID:16905680 PMID:16912212 PMID:16920162 PMID:17063270 PMID:17148771 PMID:17301269 PMID:17513806 PMID:17574839 PMID:17688236 PMID:17925560 PMID:17972171 PMID:18042939 PMID:18393245 PMID:18446624 PMID:18465347 PMID:18489799 PMID:18703817 PMID:18704680 PMID:19016756 PMID:19241424 PMID:19491284 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19863560 PMID:19941162 PMID:19941167 PMID:19949876 PMID:19967274 PMID:20033483 PMID:20104584 PMID:20167696 PMID:20373018 PMID:20616022 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21520273 PMID:21643751 PMID:21702907 PMID:21709188 PMID:21913181 PMID:21918853 PMID:21952622 PMID:22006311 PMID:22009639 PMID:22085629 PMID:22144684 PMID:22217648 PMID:22426013 PMID:22505045 PMID:22535016 PMID:22632462 PMID:22666503 PMID:22752604 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23096105 PMID:23199084 PMID:23233716 PMID:23318356 PMID:23415752 PMID:23469205 PMID:23479189 PMID:23569316 PMID:23613520 PMID:23621881 PMID:23725378 PMID:23767878 PMID:23942203 PMID:24033266 PMID:24055113 PMID:24123850 PMID:24141157 PMID:24156927 PMID:24301060 PMID:24312913 PMID:24504028 PMID:24528374 PMID:24556621 PMID:24607278 PMID:24728189 PMID:24814045 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25236687 PMID:25330149 PMID:25382762 PMID:25428789 PMID:25452441 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:25884701 PMID:25927356 PMID:26026974 PMID:26064523 PMID:26187060 PMID:26219728 PMID:26287763 PMID:26295337 PMID:26360800 PMID:26425718 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26580448 PMID:26657402 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26786923 PMID:26834852 PMID:26845104 PMID:27153395 PMID:27165126 PMID:27257965 PMID:27376475 PMID:27425403 PMID:27433846 PMID:27469594 PMID:27553368 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:27836010 PMID:28008555 PMID:28039656 PMID:28111427 PMID:28176296 PMID:28243543 PMID:28281021 PMID:28294317 PMID:28324225 PMID:28423363 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28541631 PMID:28616458 PMID:28657667 PMID:28715532 PMID:28724667 PMID:28726808 PMID:28831036 PMID:28915716 PMID:28918466 PMID:28973083 PMID:28993434 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29161300 PMID:29176636 PMID:29321669 PMID:29339979 PMID:29348823 PMID:29360161 PMID:29371908 PMID:29433453 PMID:29446198 PMID:29478780 PMID:29483665 PMID:29489754 PMID:29492181 PMID:29506128 PMID:29625052 PMID:29752822 PMID:29753700 PMID:29790872 PMID:29907814 PMID:29909963 PMID:29915322 PMID:30078507 PMID:30093976 PMID:30122538 PMID:30128899 PMID:30199306 PMID:30274973 PMID:30287823 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30548481 PMID:30606148 PMID:30612635 PMID:30630528 PMID:30696104 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30787465 PMID:30875412 PMID:30972954 PMID:31112363 PMID:31131967 PMID:31174498 PMID:31209999 PMID:31214711 PMID:31263054 PMID:31263571 PMID:31331294 PMID:31360904 PMID:31396961 PMID:31411802 PMID:31447099 PMID:31451522 PMID:31589614 PMID:31721781 PMID:31742824 PMID:31825140 PMID:31837001 PMID:31911673 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32029870 PMID:32098980 PMID:32101877 PMID:32164353 PMID:32190957 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32354836 PMID:32426482 PMID:32438681 PMID:32467295 PMID:32521533 PMID:32581362 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32846166 PMID:32853339 PMID:32875559 PMID:32885271 PMID:33008098 PMID:33087929 PMID:33113089 PMID:33309985 PMID:33372952 PMID:33461583 PMID:33471991 PMID:33478551 PMID:33608381 PMID:33773534 PMID:33918338 PMID:34008015 PMID:34196900 PMID:34399810 PMID:34413315 PMID:34567246 PMID:34657373 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35535697 PMID:35753294 PMID:36329109 PMID:36988593 More...
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Brd7
bromodomain containing 7
ISO
protein:increased expression:brain:
RGD
PMID:24404152
RGD:9586441
NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494
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C3
complement C3
treatment
ISO
RGD
PMID:21678475
RGD:7401275
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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C8h11orf65
similar to human chromosome 11 open reading frame 65
ISO
ClinVar Annotator: match by term: Malignant glioma
ClinVar
PMID:8659541 PMID:8808599 PMID:9000145 PMID:9463314 PMID:10330348 PMID:10817650 PMID:10980530 PMID:11298136 PMID:12552559 PMID:21445571 PMID:21459046 PMID:21792198 PMID:25741868 PMID:26681312 PMID:28492532 PMID:29478780 PMID:30549301 PMID:33471991 More...
NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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Cacng2
calcium voltage-gated channel auxiliary subunit gamma 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 7:109,572,838...109,698,516
Ensembl chr 7:109,574,459...109,697,227
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Camk2a
calcium/calmodulin-dependent protein kinase II alpha
disease_progression
ISO
RGD
PMID:29393370
RGD:13702478
NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994
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Camk2b
calcium/calmodulin-dependent protein kinase II beta
disease_progression
ISO
RGD
PMID:15750623
RGD:13702479
NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994
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Camkk2
calcium/calmodulin-dependent protein kinase kinase 2
disease_progression
ISO
RGD
PMID:27012733
RGD:13674178
NCBI chr12:33,791,023...33,845,000
Ensembl chr12:33,791,052...33,843,279
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Capn1
calpain 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,275,912...203,300,848
Ensembl chr 1:203,277,344...203,300,177
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Cat
catalase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21138464
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Catsperz
catsper channel auxiliary subunit zeta
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,114,816...204,118,582
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Cav1
caveolin 1
IEP
RGD
PMID:22528460
RGD:6784517
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
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Cav2
caveolin 2
IEP
RGD
PMID:22528460
RGD:6784517
NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244
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Ccdc88b
coiled-coil domain containing 88B
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,036,913...204,052,878
Ensembl chr 1:204,036,918...204,052,970
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Ccn1
cellular communication network factor 1
exacerbates
ISO
human cells in mouse model
RGD
PMID:15026334
RGD:329845555
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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Ccnd1
cyclin D1
susceptibility disease_progression
ISO
RGD
PMID:22304571 PMID:21844184 PMID:21844184
RGD:13681930 , RGD:13702091 , RGD:13702091
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ccr4
C-C motif chemokine receptor 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17522861
NCBI chr 8:114,176,291...114,182,033
Ensembl chr 8:114,176,974...114,178,056
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Cd40
CD40 molecule
treatment
ISO
RGD
PMID:24878890
RGD:11352275
NCBI chr 3:153,790,372...153,805,279
Ensembl chr 3:153,790,449...153,805,534
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Cd80
Cd80 molecule
IDA
RGD
PMID:10078962
RGD:727266
NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030
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Cdc42bpg
CDC42 binding protein kinase gamma
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,608,339...203,628,502
Ensembl chr 1:203,608,574...203,628,502
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Cdc42ep2
CDC42 effector protein 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,202,000...203,210,891
Ensembl chr 1:203,201,873...203,210,897
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Cdca5
cell division cycle associated 5
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,378,550...203,392,027
Ensembl chr 1:203,378,577...203,392,023
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Cdk4
cyclin-dependent kinase 4
disease_progression
ISO
RGD
PMID:23761023 PMID:21844184
RGD:13702090 , RGD:13702091
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cdk6
cyclin-dependent kinase 6
severity
ISO
DNA:amplification:
RGD
PMID:22736304 PMID:9102208
RGD:13702093 , RGD:13702094
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
severity treatment
ISO
DNA:hypermethylation:promoter:
RGD
PMID:20844987 PMID:9144534 PMID:18791688
RGD:13702125 , RGD:13702129 , RGD:13702128
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
disease_progression
ISO
DNA:deletions CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15814359 PMID:19578367 PMID:11314047
RGD:8552305
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Cdkn2b
cyclin-dependent kinase inhibitor 2B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578366 PMID:19578367
NCBI chr 5:104,009,839...104,019,082
Ensembl chr 5:104,010,680...104,019,050
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Chaf1a
chromatin assembly factor 1 subunit A
susceptibility
ISO
DNA:SNP:intron:rs243356(human)
RGD
PMID:18048407
RGD:9587459
NCBI chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654
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Chaf1b
chromatin assembly factor 1 subunit B
disease_progression
ISO
protein:increased expression:brain:
RGD
PMID:24039914
RGD:9587472
NCBI chr11:33,200,894...33,221,076
Ensembl chr11:33,200,981...33,221,070
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:18759107 PMID:19338683 PMID:19768534 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23109706 PMID:23329222 PMID:23415889 PMID:23469205 PMID:23652375 PMID:23946381 PMID:24033266 PMID:24713400 PMID:24723567 PMID:24884479 PMID:25431674 PMID:25583358 PMID:25741868 PMID:26084796 PMID:26332814 PMID:26467025 PMID:26641009 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27083775 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27711073 PMID:27751358 PMID:27798748 PMID:28125075 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29146883 PMID:29351919 PMID:29489754 PMID:29522266 PMID:29909568 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:32805687 PMID:36222830 PMID:37055167 PMID:37149759 More...
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Chi3l1
chitinase 3 like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20506295
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Clcn2
chloride voltage-gated channel 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12843258
NCBI chr11:80,197,741...80,211,657
Ensembl chr11:80,198,153...80,211,657
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Clcn3
chloride voltage-gated channel 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12843258
NCBI chr16:29,127,152...29,200,133
Ensembl chr16:29,127,419...29,200,119
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Clcn5
chloride voltage-gated channel 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12843258
NCBI chr X:15,185,380...15,339,977
Ensembl chr X:15,185,451...15,334,264
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Cntn2
contactin 2
severity
ISO
mRNA, protein:increased expression:brain (human)
RGD
PMID:11280781
RGD:734799
NCBI chr13:43,942,868...43,975,973
Ensembl chr13:43,947,265...43,975,887
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Cox8a
cytochrome c oxidase subunit 8A
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,402,118...204,404,439
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Cplane1
ciliogenesis and planar polarity effector complex subunit 1
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500
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Csf1
colony stimulating factor 1
IMP
RGD
PMID:15728459
RGD:2293641
NCBI chr 2:195,377,215...195,396,608
Ensembl chr 2:195,377,215...195,411,704
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Ctsb
cathepsin B
IDA
RGD
PMID:17287256
RGD:2315520
NCBI chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
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Cxcr3
C-X-C motif chemokine receptor 3
IMP
RGD
PMID:16434036
RGD:5135509
NCBI chr X:66,844,318...66,846,969
Ensembl chr X:66,844,318...66,846,969
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Cyp2b1
cytochrome P450, family 2, subfamily b, polypeptide 1
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:7834628
NCBI chr 1:81,518,387...81,544,999
Ensembl chr 1:81,518,408...81,542,052
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
DNA:snp:promoter:c.-1053C>T (human)
RGD
PMID:12540498
RGD:1358568
NCBI chr 1:195,840,330...195,850,728
Ensembl chr 1:195,840,058...195,864,023
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Dcn
decorin
disease_progression
ISO
RGD
PMID:15475879
RGD:2311425
NCBI chr 7:32,281,252...32,321,291
Ensembl chr 7:32,281,252...32,321,270
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Dcx
doublecortin
disease_progression treatment
ISO
RGD
PMID:17178868 PMID:21477071 PMID:19681167
RGD:12904748 , RGD:12904761 , RGD:12904754
NCBI chr X:107,430,767...107,573,612
Ensembl chr X:107,430,767...107,507,476
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Ddr1
discoidin domain receptor tyrosine kinase 1
severity
ISO
mRNA, protein:increased expression:brain (human)
RGD
PMID:16652150
RGD:151347531
NCBI chr20:3,042,494...3,064,442
Ensembl chr20:3,044,320...3,064,468
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Depdc5
DEP domain containing 5, GATOR1 subcomplex subunit
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr14:77,732,297...77,862,924
Ensembl chr14:77,732,297...77,862,794
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Dlk1
delta like non-canonical Notch ligand 1
ISO
RGD
PMID:16288219
RGD:1625600
NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
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Dll4
delta like canonical Notch ligand 4
ameliorates
ISO
RGD
PMID:17183313
RGD:155791441
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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Dmxl1
Dmx-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16865689
NCBI chr18:42,993,292...43,163,457
Ensembl chr18:42,993,340...43,163,456
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Dnajc4
DnaJ heat shock protein family (Hsp40) member C4
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,178,189...204,182,412
Ensembl chr 1:204,178,191...204,182,387
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Dpf2
double PHD fingers 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
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E2f1
E2F transcription factor 1
severity
ISO
RGD
PMID:28042322
RGD:13702468
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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E2f3
E2F transcription factor 3
disease_progression
ISO
RGD
PMID:28337965
RGD:13702470
NCBI chr17:34,601,756...34,679,139
Ensembl chr17:34,601,830...34,676,253
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Efemp1
EGF containing fibulin extracellular matrix protein 1
ISO
protein:increased expression:brain:
RGD
PMID:19887559
RGD:10401656
NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018
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Efl1
elongation factor like GTPase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25015090
NCBI chr 1:136,638,527...136,763,518
Ensembl chr 1:136,638,527...136,763,518
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Egf
epidermal growth factor
susceptibility
ISO
DNA:polymorphism:promoter:+61A>G(human) DNA:polymorphism:promoter:GG genotypes were associated with increased risk.
RGD
PMID:22106858 PMID:17473192
RGD:13702473 , RGD:13702474
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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Egfr
epidermal growth factor receptor
treatment
ISO IMP
protein:alternative form:tumor (human) ClinVar Annotator: match by term: Brainstem glioma
ClinVar RGD
PMID:17177598 PMID:26619011 PMID:7606735 PMID:10616092
RGD:5131512 , RGD:38599219
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Ehbp1l1
EH domain binding protein 1-like 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270
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Ehd1
EH-domain containing 1
ISO
ClinVar Annotator: match by term: Ependymoma CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:35616188
NCBI chr 1:203,579,850...203,602,226
Ensembl chr 1:203,579,869...203,602,212
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Entpd2
ectonucleoside triphosphate diphosphohydrolase 2
ISO
RGD
PMID:19558578
RGD:9685528
NCBI chr 3:8,213,575...8,219,094
Ensembl chr 3:8,213,663...8,226,866
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Epha5
EPH receptor A5
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868
NCBI chr14:23,653,393...24,020,129
Ensembl chr14:23,653,393...24,017,317
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Epo
erythropoietin
ISO
RGD
PMID:21749867
RGD:10400910
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Epor
erythropoietin receptor
IMP
RGD
PMID:21749867
RGD:10400910
NCBI chr 8:20,489,678...20,494,257
Ensembl chr 8:20,489,678...20,494,257
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Glioma susceptibility 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15457249
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Ercc1
ERCC excision repair 1, endonuclease non-catalytic subunit
susceptibility
ISO
DNA:snp:3'utr:c.8092C>A (human) (rs3212986)
RGD
PMID:25867436
RGD:13207318
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
susceptibility
ISO
RGD
PMID:11319176
RGD:10401082
NCBI chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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Ercc5
ERCC excision repair 5, endonuclease
susceptibility
ISO
DNA:SNP:cd: p.D1558H (rs17655) (human)
RGD
PMID:23534771
RGD:401850601
NCBI chr 9:46,309,477...46,354,478
Ensembl chr 9:46,309,389...46,354,472
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Esrra
estrogen related receptor, alpha
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,104,100...204,114,182
Ensembl chr 1:204,104,101...204,114,268
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F2
coagulation factor II, thrombin
treatment
IMP
RGD
PMID:15975137
RGD:1578509
NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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Fam107a
family with sequence similarity 107, member A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16865689
NCBI chr15:16,608,362...16,630,398
Ensembl chr15:16,607,205...16,630,396
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Fam89b
family with sequence similarity 89, member B
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,015,772...203,017,890
Ensembl chr 1:203,015,773...203,017,367
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Fas
Fas cell surface death receptor
severity
ISO
mouse gene in a rat model
RGD
PMID:11440439
RGD:8663460
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Fau
FAU ubiquitin like and ribosomal protein S30 fusion
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,350,226...203,351,741
Ensembl chr 1:203,350,189...203,351,742
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Fbxw7
F-box and WD repeat domain containing 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18931460
NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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Fermt3
FERM domain containing kindlin 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,189,483...204,207,683
Ensembl chr 1:204,189,484...204,207,587
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Fgf2
fibroblast growth factor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:10673511
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma
CTD ClinVar
PMID:10766980 PMID:23583981 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 PMID:33448156 More...
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Flrt1
fibronectin leucine rich transmembrane protein 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,275,785...204,292,844
Ensembl chr 1:204,275,367...204,353,750
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Flt3lg
Fms related receptor tyrosine kinase 3 ligand
treatment
ISO
RGD
PMID:15564139
RGD:11049500
NCBI chr 1:95,615,056...95,620,463
Ensembl chr 1:95,609,370...95,620,463
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Frmd8
FERM domain containing 8
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,143,216...203,163,868
Ensembl chr 1:203,143,218...203,163,870
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Fth1
ferritin heavy chain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21385903
NCBI chr 1:206,627,142...206,629,430
Ensembl chr 1:206,627,103...206,725,424
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Gdnf
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138852
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Gja1
gap junction protein, alpha 1
IMP
RGD
PMID:22808518
RGD:7207264
NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Glb1
galactosidase, beta 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 8:114,085,508...114,158,127
Ensembl chr 8:114,085,508...114,158,127
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Gon4l
gon-4 like
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634
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Gpha2
glycoprotein hormone subunit alpha 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,525,952...203,527,271
Ensembl chr 1:203,526,122...203,527,270
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Gpr137
G protein-coupled receptor 137
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,129,636...204,132,622
Ensembl chr 1:204,129,636...204,133,082
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Gstm1
glutathione S-transferase mu 1
severity
ISO
RGD
PMID:10965818
RGD:5490163
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstm3
glutathione S-transferase mu 3
ISO
DNA: deletion: intron 6
RGD
PMID:16598069
RGD:5688743
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
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Gstm5
glutathione S-transferase, mu 5
ISO
DNA: deletion: intron 6
RGD
PMID:16598069
RGD:5688743
NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.I105V (rs1695) (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16899598 PMID:15006924
RGD:5490124
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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H3f3a
H3.3 histone A
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma
CTD ClinVar
PMID:22286216 PMID:23583981 PMID:26619011
NCBI chr13:92,533,289...92,544,902
Ensembl chr13:92,533,298...92,544,908
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Hdac3
histone deacetylase 3
disease_progression
ISO
mRNA,protein:increased expression:brain: ClinVar Annotator: match by term: Ependymoma
ClinVar RGD
PMID:23685192
RGD:9590201
NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
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Hells
helicase, lymphoid specific
severity
ISO
RGD
PMID:28042322
RGD:13702468
NCBI chr 1:236,701,704...236,748,239
Ensembl chr 1:236,701,758...236,746,844
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Hgf
hepatocyte growth factor
disease_progression
ISO
protein:increased expression:brain:
RGD
PMID:12115353
RGD:8548633
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hmgb1
high mobility group box 1
treatment
IMP
RGD
PMID:10830965
RGD:10402059
NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565 Ensembl chr16:5,901,586...5,978,565
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Hmgn5
high mobility group nucleosome binding domain 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22109888
NCBI chr X:74,085,871...74,094,488
Ensembl chr X:74,085,875...74,094,441
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Hoxd11
homeobox D11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33614284
NCBI chr 3:59,584,840...59,587,257
Ensembl chr 3:59,585,039...59,586,783
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30619488
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Hsd3b2
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852
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Hspa5
heat shock protein family A (Hsp70) member 5
ISO
protein:increased expression
RGD
PMID:21112319
RGD:5685704
NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1
CTD ClinVar OMIM
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:19901110 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25391653 PMID:25741868 PMID:25848751 PMID:26618343 PMID:26619011 PMID:27993330 PMID:28122345 PMID:30231226 PMID:36201590 More...
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
ClinVar Annotator: match by term: Brainstem glioma
ClinVar
PMID:20946881 PMID:21250968 PMID:21596855 PMID:21997850 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22616558 PMID:22898539 PMID:23949315 PMID:24606448 PMID:25157968 PMID:26619011 More...
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Ifng
interferon gamma
IDA
RGD
PMID:10078962
RGD:727266
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Igf1
insulin-like growth factor 1
severity
ISO
protein:increased expression:serum:
RGD
PMID:21788435
RGD:8548833
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf1r
insulin-like growth factor 1 receptor
ISO
DNA: SNP: : rs2272037 or rs2016347
RGD
PMID:18562769
RGD:5686434
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Igfbp3
insulin-like growth factor binding protein 3
severity
ISO
protein:increased expression:serum:
RGD
PMID:21788435
RGD:8548833
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Il10
interleukin 10
susceptibility
ISO
DNA:SNP: :rs1800896 (human)
RGD
PMID:20406895
RGD:4140470
NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313
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Il12a
interleukin 12A
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18176109
NCBI chr 2:152,965,769...152,973,035
Ensembl chr 2:152,965,769...152,972,734
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Il12b
interleukin 12B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18176109
NCBI chr10:28,888,832...28,903,802
Ensembl chr10:28,893,008...28,902,903
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Il18
interleukin 18
treatment
ISO
RGD
PMID:18725309
RGD:8657054
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il2
interleukin 2
treatment
ISO
RGD
PMID:12864971
RGD:8663439
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Il4
interleukin 4
treatment
ISO
RGD
PMID:9973213
RGD:8142389
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Il7
interleukin 7
IDA
RGD
PMID:10078962
RGD:727266
NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075
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Isg15
ISG15 ubiquitin-like modifier
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506701
NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
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Kat6b
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Kcnk4
potassium two pore domain channel subfamily K member 4
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,117,941...204,129,494
Ensembl chr 1:204,114,572...204,125,925
G
Kcnk7
potassium two pore domain channel subfamily K member 7
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:202,988,801...202,992,842
Ensembl chr 1:202,990,198...202,992,872
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Kdm5b
lysine demethylase 5B
disease_progression
ISO
RGD
PMID:25450384 PMID:25450384
RGD:13702126 , RGD:13702126
NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
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Kdr
kinase insert domain receptor
disease_progression severity
ISO
RGD
PMID:20501615 PMID:10506722
RGD:5684393 , RGD:5684425
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Klhl21
kelch-like family member 21
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 5:162,514,888...162,523,545
Ensembl chr 5:162,514,765...162,523,545
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Kras
KRAS proto-oncogene, GTPase
severity
ISO
RGD
PMID:22207524 PMID:19435821
RGD:13702477 , RGD:13702860
NCBI chr 4:178,185,418...178,218,484
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Kremen2
kringle containing transmembrane protein 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr10:12,763,345...12,767,622
Ensembl chr10:12,763,397...12,767,854
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Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640
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Letm1
leucine zipper and EF-hand containing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904
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Lgals3
galectin 3
disease_progression
IEP
RGD
PMID:23179497
RGD:9685225
NCBI chr15:20,620,083...20,632,019
Ensembl chr15:20,607,692...20,632,025
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Lig4
DNA ligase 4
ISO
DNA:SNP: :rs1805388 (human)
RGD
PMID:23663450
RGD:13204718
NCBI chr16:79,518,393...79,526,956
Ensembl chr16:79,518,312...79,527,040
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Lta
lymphotoxin alpha
treatment
ISO
RGD
PMID:1883913
RGD:1625042
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Ltbp3
latent transforming growth factor beta binding protein 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975
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Macrod1
mono-ADP ribosylhydrolase 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,246,238...204,387,027
Ensembl chr 1:204,246,166...204,389,716
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Majin
membrane anchored junction protein
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,487,777...203,524,098
Ensembl chr 1:203,488,069...203,524,092
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Map2k1
mitogen activated protein kinase kinase 1
ISO
RGD
PMID:21057530
RGD:13702863
NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147
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Map3k11
mitogen-activated protein kinase kinase kinase 11
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:202,975,353...202,988,655
Ensembl chr 1:202,975,353...202,988,652
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Map4k2
mitogen activated protein kinase kinase kinase kinase 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,645,098...203,660,782
Ensembl chr 1:203,645,153...203,660,331
G
Map4k3
mitogen-activated protein kinase kinase kinase kinase 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 6:14,276,623...14,446,321
Ensembl chr 6:14,277,121...14,446,334
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Mapk3
mitogen activated protein kinase 3
ISO
RGD
PMID:27256374
RGD:13702865
NCBI chr 1:181,366,646...181,372,863
Ensembl chr 1:181,366,637...181,372,863
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Mark2
microtubule affinity regulating kinase 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,461,029...204,526,247
Ensembl chr 1:204,461,030...204,525,652
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Mdk
midkine
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21233844
NCBI chr 3:77,901,134...77,903,997
Ensembl chr 3:77,901,158...77,903,130
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Men1
menin 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Met
MET proto-oncogene, receptor tyrosine kinase
IEP
protein:increased expression:brain, glioma (rat)
RGD
PMID:18194445
RGD:2317467
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16033832 PMID:16899598 PMID:19901110
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Mir192
microRNA 192
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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Mir194-2
microRNA 194-2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,564,761...203,564,845
Ensembl chr 1:203,564,761...203,564,845
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Mki67
marker of proliferation Ki-67
IDA
RGD
PMID:22262719
RGD:6483547
NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
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Mmp2
matrix metallopeptidase 2
treatment
IEP
RGD
PMID:19292920
RGD:8657080
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mrpl49
mitochondrial ribosomal protein L49
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,346,068...203,350,040
Ensembl chr 1:203,332,481...203,350,049
G
Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
PMID:11726306 PMID:15849733 PMID:17101317 PMID:25741868 PMID:28492532 PMID:28785832 PMID:33357406 PMID:34359559 More...
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
G
Mt-nd4
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
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Mtor
mechanistic target of rapamycin kinase
severity
ISO
RGD
PMID:20878445
RGD:13702868
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
G
Myb
MYB proto-oncogene, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23583981 PMID:26829751
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Mybl1
MYB proto-oncogene like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23583981
NCBI chr 5:9,582,905...9,618,179
Ensembl chr 5:9,582,934...9,618,183
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Mylk
myosin light chain kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10232591
NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
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Naa40
N(alpha)-acetyltransferase 40, NatD catalytic subunit
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,410,636...204,430,890
Ensembl chr 1:204,413,498...204,430,717
G
Naaladl1
N-acetylated alpha-linked acidic dipeptidase-like 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195
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Nadsyn1
NAD synthetase 1
susceptibility
ISO
RGD
PMID:22740028
RGD:13703114
NCBI chr 1:198,981,559...199,009,853
Ensembl chr 1:198,981,604...199,009,869
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Ndrg4
NDRG family member 4
disease_progression
ISO
protein:decreased expression:brain
RGD
PMID:22399192
RGD:7247727
NCBI chr19:9,351,408...9,387,398
Ensembl chr19:9,351,404...9,386,914
G
Net1
neuroepithelial cell transforming 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr17:66,341,251...66,370,445
Ensembl chr17:66,340,728...66,370,441
G
Nf1
neurofibromin 1
disease_progression
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations: :
CTD RGD
PMID:25119042 PMID:26190195
RGD:12789702
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
G
Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
G
Nos3
nitric oxide synthase 3
ISO
protein:increased expression:blood vessel endothelial cell
RGD
PMID:14672505
RGD:2292080
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
G
Nrxn2
neurexin 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,726,420...203,842,301
Ensembl chr 1:203,735,753...203,842,297
G
Ntrk1
neurotrophic receptor tyrosine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24705251
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
G
Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24705251
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
G
Ntrk3
neurotrophic receptor tyrosine kinase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24705251
NCBI chr 1:132,116,472...132,503,849
Ensembl chr 1:132,132,849...132,503,286
G
Nudt22
nudix hydrolase 22
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,182,797...204,186,421
Ensembl chr 1:204,182,802...204,186,280
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Otub1
OTU deubiquitinase, ubiquitin aldehyde binding 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,387,215...204,395,495
Ensembl chr 1:204,387,215...204,395,483
G
Otud5
OTU deubiquitinase 5
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr X:14,626,173...14,659,331
Ensembl chr X:14,626,164...14,659,573
G
Patz1
POZ (BTB) and AT hook containing zinc finger 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr14:78,154,590...78,173,032
Ensembl chr14:78,152,516...78,173,032
G
Pcmt1
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1
IEP
mRNA:decreased expression:brain:
RGD
PMID:15857672
RGD:10448283
NCBI chr 1:2,111,756...2,160,354
Ensembl chr 1:2,111,763...2,159,201
G
Pcnx3
pecanex 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:202,951,322...202,974,167
Ensembl chr 1:202,951,322...202,976,561
G
Pdap1
PDGFA associated protein 1
severity
ISO
RGD
PMID:27448842
RGD:13702895
NCBI chr12:9,470,652...9,480,880
Ensembl chr12:9,470,574...9,535,374
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Pdgfa
platelet derived growth factor subunit A
ISO
in a mouse model
RGD
PMID:21490965
RGD:13702894
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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Pdgfb
platelet derived growth factor subunit B
severity
ISO
RGD
PMID:27448842 PMID:21677873 PMID:26945107
RGD:13702895 , RGD:13702897 , RGD:13702896
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
G
Phldb1
pleckstrin homology-like domain, family B, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578367
NCBI chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522
G
Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Brainstem glioma
ClinVar RGD
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24497998 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26351730 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29446767 PMID:29549527 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34008892 PMID:34496175 PMID:37712948 PMID:16847462 More...
RGD:2290476
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3r3
phosphoinositide-3-kinase regulatory subunit 3
treatment
ISO
RGD
PMID:28260020
RGD:13782053
NCBI chr 5:129,700,925...129,772,591
Ensembl chr 5:129,701,229...129,772,583
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Plau
plasminogen activator, urokinase
severity
ISO
protein:increased expression:brain (human)
RGD
PMID:7604873
RGD:7241260
NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775
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Plcb3
phospholipase C beta 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228
G
Plk1
polo-like kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22000864
NCBI chr 1:176,716,420...176,726,400
Ensembl chr 1:176,716,420...176,726,400
G
Pola2
DNA polymerase alpha 2, accessory subunit
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,227,183...203,251,350
Ensembl chr 1:203,203,388...203,251,348
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Pot1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9
ClinVar
PMID:25741868 PMID:28492532 PMID:32191290
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
G
Pou3f4
POU class 3 homeobox 4
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr X:75,858,646...75,859,923
Ensembl chr X:75,858,646...75,859,923
G
Pou5f1
POU class 5 homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35506701
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
G
Pparg
peroxisome proliferator-activated receptor gamma
ISO
ClinVar Annotator: match by term: Glioma susceptibility 1
ClinVar
PMID:9467001 PMID:10381354 PMID:10523018 PMID:10690291 PMID:10851250 PMID:14569127 PMID:14616762 PMID:14671186 PMID:28492532 More...
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
G
Ppm1d
protein phosphatase, Mg2+/Mn2+ dependent, 1D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24880341
NCBI chr10:70,172,603...70,208,607
Ensembl chr10:70,172,603...70,208,607
G
Ppp1r14b
protein phosphatase 1, regulatory (inhibitor) subunit 14B
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,165,210...204,167,320
Ensembl chr 1:204,163,299...204,167,319
G
Ppp2r5b
protein phosphatase 2, regulatory subunit B', beta
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,527,268...203,535,442
Ensembl chr 1:203,527,270...203,535,416
G
Prdx5
peroxiredoxin 5
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,099,826...204,103,589
Ensembl chr 1:204,099,826...204,114,268
G
Prkca
protein kinase C, alpha
ISO
DNA:gene fusion: :
RGD
PMID:26671581
RGD:11087038
NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
G
Psd3
pleckstrin and Sec7 domain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16865689
NCBI chr16:21,465,643...22,035,846
Ensembl chr16:21,465,639...22,034,547
G
Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 2 DNA:deletions, missense mutations, nonsense mutation:exons:multiple (human)
CTD ClinVar OMIM RGD
PMID:1336932 PMID:7728760 PMID:8980400 PMID:9140396 PMID:9241266 PMID:9256433 PMID:9259288 PMID:9326929 PMID:9399897 PMID:9467011 PMID:9536098 PMID:9598803 PMID:9600246 PMID:9735393 PMID:9740666 PMID:9856571 PMID:10232405 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10555148 PMID:10749983 PMID:10777358 PMID:10848731 PMID:10866302 PMID:10920277 PMID:10923032 PMID:11051241 PMID:11156408 PMID:11234884 PMID:11274365 PMID:11332402 PMID:11494117 PMID:11504908 PMID:11685670 PMID:11918710 PMID:12085208 PMID:12471211 PMID:12614768 PMID:12844284 PMID:14518070 PMID:14675182 PMID:15016963 PMID:15120218 PMID:15211648 PMID:15254419 PMID:15647370 PMID:15805158 PMID:16199547 PMID:16752378 PMID:16773562 PMID:16952599 PMID:17286265 PMID:17324556 PMID:17392703 PMID:17526800 PMID:17526801 PMID:17576681 PMID:17847000 PMID:17873882 PMID:17941496 PMID:17942903 PMID:18558293 PMID:18725974 PMID:18759867 PMID:18767981 PMID:19340001 PMID:19351834 PMID:19366826 PMID:19457929 PMID:19458356 PMID:19829307 PMID:19903786 PMID:20018398 PMID:20085938 PMID:20223021 PMID:20301661 PMID:20453058 PMID:20538496 PMID:20600018 PMID:20619739 PMID:20685300 PMID:20881644 PMID:20926450 PMID:21194675 PMID:21343951 PMID:21659347 PMID:21828076 PMID:21869887 PMID:21956414 PMID:22162582 PMID:22162589 PMID:22266152 PMID:22281088 PMID:22381246 PMID:22479427 PMID:22491738 PMID:22520842 PMID:22595938 PMID:22628360 PMID:23315997 PMID:23335809 PMID:23349303 PMID:23399955 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23695273 PMID:23764071 PMID:23886400 PMID:23934601 PMID:24033266 PMID:24052722 PMID:24055113 PMID:24099866 PMID:24345843 PMID:24375884 PMID:24404930 PMID:24498881 PMID:24766807 PMID:24778394 PMID:24809327 PMID:25157968 PMID:25288137 PMID:25326635 PMID:25429968 PMID:25527629 PMID:25647146 PMID:25669429 PMID:25722288 PMID:25741868 PMID:25756585 PMID:25910213 PMID:25937288 PMID:25980754 PMID:26076150 PMID:26246517 PMID:26376867 PMID:26467025 PMID:26579216 PMID:26633542 PMID:26773036 PMID:27221918 PMID:27405757 PMID:27426521 PMID:27477328 PMID:27514801 PMID:27531073 PMID:27535533 PMID:27829222 PMID:27959697 PMID:28250423 PMID:28286253 PMID:28289760 PMID:28475857 PMID:28492532 PMID:28526761 PMID:28655553 PMID:28677221 PMID:28755079 PMID:29273943 PMID:29373119 PMID:29594054 PMID:29608813 PMID:29663862 PMID:29706350 PMID:29706633 PMID:29706646 PMID:29785012 PMID:29874181 PMID:29931205 PMID:29970488 PMID:30181857 PMID:30287823 PMID:30311380 PMID:30374176 PMID:30528446 PMID:30614812 PMID:30659124 PMID:30993208 PMID:31006514 PMID:31336731 PMID:32150788 PMID:32234455 PMID:32238909 PMID:32350270 PMID:32664367 PMID:32832836 PMID:32885271 PMID:33077954 PMID:33083010 PMID:33088792 PMID:33372952 PMID:33471991 PMID:33600059 PMID:33723755 PMID:34386506 PMID:35089076 PMID:35227301 PMID:36988593 PMID:9090379 More...
RGD:12801495
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15561105
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Astrocytoma ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma
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:27069254 PMID:27276561 PMID:27783593 PMID:28098151 PMID:28492532 PMID:32561839 PMID:36349709 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Pygm
glycogen phosphorylase, muscle associated
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368
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Qki
QKI, KH domain containing RNA binding
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26829751
NCBI chr 1:50,387,716...50,501,568
Ensembl chr 1:50,387,698...50,498,831
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Raf1
Raf-1 proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glioma
CTD ClinVar
PMID:23583981
NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
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Rasgrp2
RAS guanyl releasing protein 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,705,777...203,722,993
Ensembl chr 1:203,707,481...203,722,993
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Rassf1
Ras association domain family member 1
ISO
RGD
PMID:17325427
RGD:2291979
NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
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Rcor2
REST corepressor 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,453,403...204,461,403
Ensembl chr 1:204,454,360...204,460,838
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
PMID:25741868
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Rnf43
ring finger protein 43
exacerbates
ISO
protein:decreased expression:brain, brainstem (human)
RGD
PMID:25755738
RGD:151361124
NCBI chr10:72,461,508...72,537,301
Ensembl chr10:72,464,348...72,536,977
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Ros1
ROS proto-oncogene 1 , receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19276365
NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865
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Rps6ka4
ribosomal protein S6 kinase A4
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,021,805...204,032,781
Ensembl chr 1:204,021,806...204,032,761
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RT1-CE16
RT1 class I, locus CE16
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14511464
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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Rtel1
regulator of telomere elongation helicase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19578366 PMID:19578367
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Sac3d1
SAC3 domain containing 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,414,184...203,416,563
Ensembl chr 1:203,414,187...203,416,604
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Scyl1
SCY1 like pseudokinase 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533
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Serpine1
serpin family E member 1
ISO
protein:increased expression:plasma
RGD
PMID:14977830
RGD:13208546
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Setd9-ps1
SET domain containing, pseudogene 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 2:43,319,359...43,322,764
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Setdb1
SET domain bifurcated histone lysine methyltransferase 1
severity
ISO
protein:increased expression:brain, cell nucleus (human)
RGD
PMID:23943221
RGD:9590166
NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506
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Sf1
splicing factor 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,670,016...203,683,432
Ensembl chr 1:203,670,018...203,684,330
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Sh3gl1
SH3 domain containing GRB2 like 1, endophilin A2
disease_progression severity
ISO IDA
protein:increased expression:cytoplasm,white matter:
RGD
PMID:23050879 PMID:23050879 PMID:23050879
RGD:13463483 , RGD:13463483 , RGD:13463483
NCBI chr 9:842,285...869,753
Ensembl chr 9:842,288...869,716
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Sh3tc2
SH3 domain and tetratricopeptide repeats 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr18:55,416,383...55,477,419
Ensembl chr18:55,416,413...55,483,083
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Sipa1
signal-induced proliferation-associated 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:202,938,532...202,950,672
Ensembl chr 1:202,938,580...202,950,591
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Sirt2
sirtuin 2
treatment
IMP
RGD
PMID:23522375
RGD:9586035
NCBI chr 1:84,053,883...84,076,975
Ensembl chr 1:84,052,903...84,076,975
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Slc22a12
solute carrier family 22 member 12
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,845,039...203,852,496
Ensembl chr 1:203,845,048...203,853,555
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Slc25a45
solute carrier family 25, member 45
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,166,362...203,174,473
Ensembl chr 1:203,166,683...203,174,473
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Slc39a11
solute carrier family 39, member 11
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr10:98,275,958...98,697,042
Ensembl chr10:98,275,960...98,611,295
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Slc44a1
solute carrier family 44 member 1
ISO
DNA:gene fusion: :
RGD
PMID:26671581
RGD:11087038
NCBI chr 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909
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Slc5a5
solute carrier family 5 member 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12489024
NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
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Slc6a3
solute carrier family 6 member 3
IEP
protein:decreased expression
RGD
PMID:14698456
RGD:1625668
NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
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Slc7a5
solute carrier family 7 member 5
ameliorates
IMP
RGD
PMID:16496379
RGD:151361115
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Snx15
sorting nexin 15
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,417,029...203,426,173
Ensembl chr 1:203,417,029...203,426,247
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11861405
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Sox6
SRY-box transcription factor 6
ISO
RGD
PMID:15696967
RGD:1580007
NCBI chr 1:169,723,306...170,334,846
Ensembl chr 1:169,729,194...170,277,386
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Sphk1
sphingosine kinase 1
IEP
protein:increased expression:endothelial cell (rat)
RGD
PMID:17316399
RGD:2311379
NCBI chr10:101,758,567...101,764,240
Ensembl chr10:101,758,711...101,764,240
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Spindoc
spindlin interactor and repressor of chromatin binding
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,541,647...204,565,109
Ensembl chr 1:204,542,335...204,564,144
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Spp1
secreted phosphoprotein 1
IDA ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16651633 PMID:16651633
RGD:1581321
NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162
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Spry3
sprouty RTK signaling antagonist 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr12:16,663,188...16,673,124
Ensembl chr12:16,663,389...16,672,531
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St6gal1
ST6 beta-galactoside alpha-2,6-sialyltransferase 1
treatment
IDA
RGD
PMID:11559557
RGD:10043143
NCBI chr11:77,526,837...77,653,474
Ensembl chr11:77,526,837...77,653,310
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Stip1
stress-induced phosphoprotein 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,209,433...204,228,452
Ensembl chr 1:204,178,932...204,228,476
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Stmn1
stathmin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17440165
NCBI chr 5:146,680,757...146,687,154
Ensembl chr 5:146,681,436...146,687,154
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Suv39h1
SUV39H1 histone lysine methyltransferase
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr X:14,421,028...14,433,993
Ensembl chr X:14,421,109...14,433,982
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Suv39h1-ps1
SUV39H1 histone lysine methyltransferase, pseudogene 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr X:141,792,589...141,795,257
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Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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Syne1
spectrin repeat containing nuclear envelope protein 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:41,512,146...41,983,382
Ensembl chr 1:41,512,030...41,983,322
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Syvn1
synoviolin 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,339,235...203,346,137
Ensembl chr 1:203,339,619...203,346,152
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Tasor
transcription activation suppressor
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr16:2,606,807...2,669,902
Ensembl chr16:2,603,936...2,667,292
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18021753 PMID:19578367
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tfrc
transferrin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16904380
NCBI chr11:68,163,413...68,185,257
Ensembl chr11:68,163,413...68,185,257
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Tigd3
tigger transposable element derived 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,178,456...203,182,775
Ensembl chr 1:203,178,460...203,181,272
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Tm7sf2
transmembrane 7 superfamily member 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,355,930...203,360,287
Ensembl chr 1:203,355,931...203,360,270
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Tnc
tenascin C
IEP
protein:increased expression:brain
RGD
PMID:16928692
RGD:4889612
NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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Tnf
tumor necrosis factor
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22199285 PMID:11810046
RGD:10450725
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfsf10
TNF superfamily member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16820965 PMID:19229339
NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
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Top2a
DNA topoisomerase II alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18402387
NCBI chr10:83,945,731...83,976,874
Ensembl chr10:83,945,735...83,976,874
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD RGD
PMID:1200021 PMID:1359493 PMID:1467311 PMID:1565143 PMID:1565144 PMID:1581912 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1915267 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2259385 PMID:2750177 PMID:2826609 PMID:4122735 PMID:7565304 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8242752 PMID:8308926 PMID:8401536 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8550239 PMID:8633021 PMID:8718514 PMID:8756654 PMID:8825920 PMID:9047394 PMID:9150393 PMID:9218725 PMID:9242456 PMID:9290701 PMID:9364015 PMID:9399838 PMID:9407971 PMID:9446663 PMID:9472631 PMID:9525742 PMID:9536098 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9607760 PMID:9627118 PMID:9632751 PMID:9662334 PMID:9667734 PMID:9681828 PMID:9704930 PMID:9825943 PMID:9891044 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10557074 PMID:10567903 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10871862 PMID:10922393 PMID:11051239 PMID:11101847 PMID:11139324 PMID:11180592 PMID:11358831 PMID:11370630 PMID:11403041 PMID:11420676 PMID:11429700 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11715068 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920788 PMID:11920959 PMID:12007217 PMID:12019170 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14559903 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15173255 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16000567 PMID:16199549 PMID:16258005 PMID:16312222 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16551709 PMID:16682957 PMID:16818505 PMID:16861262 PMID:16899598 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17576681 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17881637 PMID:18307025 PMID:18391940 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:19101993 PMID:19127115 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19881536 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20308654 PMID:20407015 PMID:20436704 PMID:20471942 PMID:20506564 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20589832 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21056685 PMID:21059199 PMID:21118481 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21348412 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21665182 PMID:21672450 PMID:21674059 PMID:21747090 PMID:21761402 PMID:21946351 PMID:22006311 PMID:22052707 PMID:22109999 PMID:22110706 PMID:22114072 PMID:22170717 PMID:22186996 PMID:22233476 PMID:22265402 PMID:22354696 PMID:22484423 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22713868 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:23031740 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23259501 PMID:23263379 PMID:23406775 PMID:23484829 PMID:23538418 PMID:23624782 PMID:23630318 PMID:23667202 PMID:23792586 PMID:23887774 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24122735 PMID:24224046 PMID:24381225 PMID:24382691 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24665023 PMID:24677579 PMID:24702488 PMID:24705251 PMID:24728327 PMID:24729566 PMID:24744791 PMID:24810334 PMID:24835218 PMID:25059482 PMID:25119042 PMID:25119136 PMID:25123297 PMID:25157968 PMID:25256166 PMID:25339994 PMID:25404506 PMID:25460562 PMID:25503501 PMID:25516983 PMID:25525159 PMID:25533637 PMID:25584008 PMID:25612911 PMID:25637381 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26200271 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26718964 PMID:26743472 PMID:26786923 PMID:26787237 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27022024 PMID:27149858 PMID:27153395 PMID:27189670 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27458004 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27533082 PMID:27616075 PMID:27621308 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27730344 PMID:27873457 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28279309 PMID:28349240 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28476805 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28973705 PMID:28975465 PMID:29025599 PMID:29070607 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29875428 PMID:29979965 PMID:30076369 PMID:30107858 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30297838 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30630526 PMID:30709381 PMID:30720243 PMID:30730202 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31296311 PMID:31300551 PMID:31742824 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32156018 PMID:32187361 PMID:32295079 PMID:32475984 PMID:32658383 PMID:32817165 PMID:32888145 PMID:32906206 PMID:33087929 PMID:33163847 PMID:33208383 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:33674644 PMID:33840814 PMID:34299313 PMID:34529667 PMID:34709361 PMID:35938033 PMID:35974385 PMID:36329109 PMID:36988593 PMID:17599090 More...
RGD:2290571
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Traf3
Tnf receptor-associated factor 3
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 6:130,199,696...130,307,168
Ensembl chr 6:130,206,484...130,305,481
G
Trim29
tripartite motif-containing 29
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30929997
NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992
G
Trmt112
tRNA methyltransferase activator subunit 11-2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,103,298...204,104,151
G
Trpm1
transient receptor potential cation channel, subfamily M, member 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605
G
Trpt1
tRNA phosphotransferase 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,186,295...204,191,294
Ensembl chr 1:204,186,295...204,191,294
G
Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:33629929
NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
G
Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Astrocytoma
ClinVar
PMID:25741868
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
G
Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
G
Vbp1
VHL binding protein 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
G
Vegfb
vascular endothelial growth factor B
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,172,297...204,178,046
Ensembl chr 1:204,172,225...204,177,944
G
Vps51
VPS51 subunit of GARP complex
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,360,434...203,370,422
Ensembl chr 1:203,360,440...203,370,430
G
Xaf1
XIAP associated factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28122345
NCBI chr10:56,917,378...56,929,791
Ensembl chr10:56,917,121...56,929,770
G
Xbp1
X-box binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21138464
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
G
Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism DNA:SNP:cd: p.Q399R (rs25487) (human)
CTD RGD
PMID:25227852 PMID:23534771
RGD:401850601
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
G
Xrcc3
X-ray repair cross complementing 3
susceptibility
ISO
DNA:SNP:cd: p.T241M (rs861539) (Human)
RGD
PMID:23534771
RGD:401850601
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
G
Yeats4
YEATS domain containing 4
IEP
RGD
PMID:11521196
RGD:1598696
NCBI chr 7:52,858,313...52,865,454
Ensembl chr 7:52,858,305...52,865,635
G
Zfpl1
zinc finger protein-like 1
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,374,500...203,378,518
Ensembl chr 1:203,374,504...203,378,487
G
Zfta
zinc finger translocation associated
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:204,604,557...204,612,688
Ensembl chr 1:204,604,103...204,612,688
G
Znhit2
zinc finger, HIT-type containing 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,354,297...203,355,578
Ensembl chr 1:203,354,138...203,355,636
G
Znrd2
zinc ribbon domain containing 2
ISO
ClinVar Annotator: match by term: Ependymoma
ClinVar
NCBI chr 1:203,017,682...203,019,465
Ensembl chr 1:203,017,682...203,019,465
G
Pot1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: High-grade astrocytoma with piloid features
ClinVar
PMID:25741868
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
G
Phox2b
paired-like homeobox 2b
ISO
ClinVar Annotator: match by term: Hirschsprung disease ganglioneuroblastoma
ClinVar
PMID:11953745 PMID:12438263 PMID:15024693 PMID:15338462 PMID:17637745 PMID:20089899 PMID:23754957 PMID:23873030 More...
NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
G
Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
G
C8h11orf65
similar to human chromosome 11 open reading frame 65
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:19781682 PMID:25503501 PMID:25741868 PMID:28492532 PMID:28779002
NCBI chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
G
Epcam
epithelial cell adhesion molecule
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:25741868
NCBI chr 6:6,880,142...6,896,103
Ensembl chr 6:6,878,237...6,896,127
G
Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
G
Rad54l
RAD54 like
ISO
ClinVar Annotator: match by term: Astrocytoma IDH-mutant
ClinVar
PMID:25741868
NCBI chr 5:129,575,431...129,605,100
Ensembl chr 5:129,575,378...129,605,070
G
Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Infant-type hemispheric glioma
ClinVar
PMID:9609997 PMID:19543972 PMID:21990134 PMID:21990165 PMID:24489791 PMID:25452441 PMID:25741868 PMID:25823446 PMID:26467025 PMID:27225819 PMID:27741520 PMID:28492532 PMID:29339979 PMID:29446198 PMID:29506128 PMID:29854283 PMID:29907814 PMID:30209399 PMID:30219179 PMID:30339520 PMID:32380732 PMID:32438681 PMID:34572941 More...
NCBI chr10:86,417,441...86,477,762
Ensembl chr10:86,418,000...86,477,304
G
Nap1l1
nucleosome assembly protein 1-like 1
ISO
mRNA:increased expression:intestinal mucosa (human)
RGD
PMID:16424981
RGD:9590082
NCBI chr 7:46,933,278...46,957,853
Ensembl chr 7:46,933,356...46,956,593
G
Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Carcinoid tumors, intestinal
ClinVar
PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 PMID:15623805 PMID:18678321 PMID:21565294 PMID:21979946 PMID:22703879 PMID:23175444 PMID:24728327 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252 PMID:29792313 PMID:34906457 PMID:35626065 PMID:35938916 More...
NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
G
Atrx
ATRX, chromatin remodeler
disease_progression
ISO
protein:decreased expression:pancreas:
RGD
PMID:24148618
RGD:9586032
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Cdk4
cyclin-dependent kinase 4
ISO
protein:increased expression:pancreas, islet of Langerhans (human)
RGD
PMID:22761470
RGD:13452384
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
G
Daxx
death-domain associated protein
disease_progression
ISO
RGD
PMID:21252315
RGD:9587819
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
G
Pcsk1
proprotein convertase subtilisin/kexin type 1
IEP
protein:increased expression:insulinoma (rat)
RGD
PMID:7925129
RGD:2308920
NCBI chr 2:4,395,543...4,442,434
Ensembl chr 2:4,395,543...4,442,434
G
Max
MYC associated factor X
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:21685915 PMID:22452945 PMID:23666964 PMID:25741868 PMID:26070438 PMID:26269449 PMID:26467025 PMID:27838885 PMID:28492532 PMID:28552549 PMID:34130653 More...
NCBI chr 6:95,636,859...95,662,204
Ensembl chr 6:95,636,858...95,662,137
G
Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
G
Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 PMID:7906417 PMID:7906866 PMID:7907913 PMID:7911697 PMID:7977365 PMID:8570194 PMID:8595427 PMID:8782503 PMID:8797874 PMID:8918855 PMID:9242375 PMID:9263528 PMID:9452077 PMID:9606292 PMID:9620546 PMID:9681850 PMID:9839497 PMID:10076558 PMID:10369718 PMID:10445857 PMID:10679286 PMID:10826520 PMID:10876191 PMID:11114642 PMID:11230481 PMID:11238493 PMID:11351254 PMID:11732489 PMID:11788682 PMID:11939755 PMID:12000816 PMID:12019403 PMID:12193298 PMID:12410354 PMID:15184865 PMID:15277225 PMID:15320968 PMID:15331579 PMID:15386323 PMID:15741265 PMID:15858153 PMID:16343097 PMID:16715139 PMID:16849421 PMID:16865647 PMID:16868135 PMID:17032739 PMID:17047083 PMID:17108110 PMID:17316110 PMID:17466010 PMID:17540634 PMID:17664273 PMID:17895320 PMID:17898100 PMID:17963006 PMID:18058472 PMID:18062802 PMID:18073307 PMID:18209889 PMID:18252215 PMID:18299477 PMID:18322301 PMID:18541894 PMID:18936155 PMID:19041016 PMID:19169500 PMID:19255327 PMID:19269918 PMID:19399650 PMID:19445625 PMID:19469690 PMID:19472011 PMID:19522830 PMID:19775624 PMID:19826964 PMID:19906784 PMID:19958926 PMID:20039896 PMID:20065189 PMID:20103606 PMID:20142552 PMID:20368568 PMID:20369307 PMID:20494215 PMID:20497437 PMID:20516206 PMID:20672905 PMID:20719260 PMID:20847059 PMID:20943719 PMID:21134561 PMID:21253810 PMID:21309721 PMID:21422803 PMID:21454698 PMID:21455200 PMID:21470995 PMID:21479187 PMID:21551259 PMID:21552134 PMID:21678021 PMID:21690267 PMID:21711375 PMID:21765987 PMID:21810974 PMID:21986619 PMID:22025146 PMID:22174939 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22584709 PMID:22676344 PMID:22865907 PMID:22992277 PMID:23056499 PMID:23067224 PMID:23341727 PMID:23468374 PMID:23514012 PMID:23660872 PMID:24033266 PMID:24331334 PMID:24336963 PMID:24361808 PMID:24560924 PMID:24617864 PMID:24699901 PMID:24728327 PMID:25157968 PMID:25349307 PMID:25425582 PMID:25440022 PMID:25501606 PMID:25624014 PMID:25637381 PMID:25695224 PMID:25733075 PMID:25741868 PMID:25759805 PMID:25810047 PMID:25903693 PMID:26033033 PMID:26046350 PMID:26084817 PMID:26269449 PMID:26332594 PMID:26343384 PMID:26356818 PMID:26467025 PMID:26489027 PMID:26758973 PMID:26845104 PMID:27099842 PMID:27379493 PMID:27539324 PMID:27673361 PMID:27807060 PMID:28125075 PMID:28186607 PMID:28469506 PMID:28492532 PMID:28873162 PMID:28946813 PMID:29408964 PMID:29590403 PMID:29625052 PMID:29656518 PMID:29684080 PMID:30217742 PMID:30660595 PMID:30927507 PMID:31159747 PMID:31263477 PMID:31510104 PMID:32375120 PMID:32923848 PMID:33167350 PMID:33397040 PMID:33450337 PMID:33615670 PMID:33763905 PMID:33777662 PMID:33827484 PMID:34629742 PMID:34637071 PMID:34881033 PMID:34885201 PMID:34905813 PMID:35264596 PMID:35304457 More...
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
G
Sdhaf2
succinate dehydrogenase complex assembly factor 2
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:28492532
NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
G
Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 PMID:11897817 PMID:12000816 PMID:12213855 PMID:12362046 PMID:12364472 PMID:12560550 PMID:12618761 PMID:12807974 PMID:13129931 PMID:14500403 PMID:14685938 PMID:14715873 PMID:14974914 PMID:14985401 PMID:15235042 PMID:15328326 PMID:15476441 PMID:15987702 PMID:15988378 PMID:15989954 PMID:16103922 PMID:16199547 PMID:16288654 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16472267 PMID:16912137 PMID:16916404 PMID:16982587 PMID:17102082 PMID:17102083 PMID:17102084 PMID:17143317 PMID:17200167 PMID:17298551 PMID:17308434 PMID:17376234 PMID:17487275 PMID:17538171 PMID:17576681 PMID:17634472 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17884808 PMID:17943698 PMID:17987308 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18519664 PMID:18551016 PMID:18678321 PMID:18728283 PMID:18753105 PMID:18840642 PMID:19001511 PMID:19064958 PMID:19075037 PMID:19184535 PMID:19189136 PMID:19215943 PMID:19258401 PMID:19261994 PMID:19351833 PMID:19368708 PMID:19393419 PMID:19399650 PMID:19411806 PMID:19415531 PMID:19454582 PMID:19522823 PMID:19576851 PMID:19596260 PMID:19694205 PMID:19802898 PMID:19825962 PMID:19927285 PMID:20119652 PMID:20208144 PMID:20213850 PMID:20418362 PMID:20459544 PMID:20503330 PMID:20505258 PMID:20540712 PMID:20583550 PMID:20592014 PMID:20605972 PMID:20614293 PMID:20923864 PMID:20960097 PMID:21172883 PMID:21173220 PMID:21348866 PMID:21520333 PMID:21561462 PMID:21565294 PMID:21820839 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22041710 PMID:22270996 PMID:22293219 PMID:22429592 PMID:22517554 PMID:22517557 PMID:22573489 PMID:22677546 PMID:22703879 PMID:22835832 PMID:22904323 PMID:22972948 PMID:22995128 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23318864 PMID:23434467 PMID:23512077 PMID:23640968 PMID:23666964 PMID:23735539 PMID:23797725 PMID:23902947 PMID:23934599 PMID:24033266 PMID:24055113 PMID:24092654 PMID:24096523 PMID:24102379 PMID:24134185 PMID:24276837 PMID:24395865 PMID:24436918 PMID:24466223 PMID:24509376 PMID:24523625 PMID:24606901 PMID:24659481 PMID:24728327 PMID:24781345 PMID:24939699 PMID:25025441 PMID:25047027 PMID:25151137 PMID:25215250 PMID:25298897 PMID:25326637 PMID:25333069 PMID:25371406 PMID:25494863 PMID:25637381 PMID:25683602 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25736212 PMID:25741868 PMID:25873086 PMID:25972245 PMID:26092435 PMID:26102504 PMID:26173966 PMID:26198225 PMID:26236513 PMID:26259135 PMID:26269449 PMID:26273102 PMID:26283294 PMID:26302408 PMID:26332594 PMID:26467025 PMID:26556299 PMID:26642834 PMID:26719882 PMID:26749241 PMID:26916530 PMID:26925370 PMID:26960314 PMID:27011036 PMID:27159321 PMID:27171833 PMID:27279923 PMID:27539324 PMID:27542510 PMID:27549546 PMID:27573198 PMID:27604842 PMID:27785149 PMID:27867439 PMID:28070496 PMID:28152038 PMID:28179334 PMID:28284009 PMID:28324028 PMID:28349240 PMID:28374168 PMID:28490599 PMID:28492532 PMID:28503760 PMID:28646318 PMID:28738844 PMID:28784873 PMID:28819017 PMID:28873162 PMID:28891197 PMID:28944243 PMID:28973655 PMID:29386252 PMID:29623478 PMID:29909963 PMID:29925701 PMID:29951630 PMID:30050099 PMID:30087776 PMID:30122763 PMID:30152102 PMID:30155846 PMID:30201732 PMID:30352407 PMID:30487145 PMID:30877234 PMID:31194233 PMID:31212687 PMID:31216007 PMID:31365623 PMID:31492822 PMID:31666924 PMID:31883676 PMID:32023584 PMID:32124427 PMID:32460727 PMID:32462735 PMID:32659967 PMID:32741965 PMID:32863293 PMID:32963463 PMID:32971818 PMID:33219105 PMID:33300499 PMID:33362715 PMID:33397040 PMID:33558524 PMID:33628464 PMID:33748650 PMID:34052969 PMID:34069252 PMID:34072806 PMID:34095481 PMID:34118692 PMID:34255389 PMID:34308366 PMID:34377882 PMID:34439168 PMID:34439371 PMID:34466344 PMID:34490615 PMID:34750850 PMID:34906457 PMID:34939938 PMID:34940133 PMID:35060925 PMID:35441217 PMID:35460558 PMID:35546442 PMID:35870552 PMID:36200007 PMID:163114641 More...
NCBI chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
G
Sdhc
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:12807974 PMID:17468193 PMID:19454582 PMID:22703879 PMID:23342407 PMID:24033266 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
G
Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:1945482 PMID:9536098 PMID:9683583 PMID:10323245 PMID:10657297 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11897812 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12114404 PMID:12386824 PMID:12509798 PMID:12696072 PMID:12782822 PMID:12807974 PMID:12811540 PMID:14557476 PMID:15032977 PMID:15066320 PMID:15328326 PMID:15331017 PMID:15479192 PMID:15623805 PMID:16080474 PMID:16199547 PMID:16317055 PMID:17041923 PMID:17102085 PMID:17308434 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17973943 PMID:18551016 PMID:18678321 PMID:18692411 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19454582 PMID:19550080 PMID:19584903 PMID:19802898 PMID:19825962 PMID:20301715 PMID:20418362 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22170724 PMID:22241717 PMID:22290790 PMID:22456618 PMID:22566194 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23083876 PMID:23175444 PMID:23433498 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24134185 PMID:24367056 PMID:24436918 PMID:24728327 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25376524 PMID:25494863 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25741136 PMID:25741868 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27153395 PMID:27279923 PMID:27634942 PMID:28128698 PMID:28164237 PMID:28179334 PMID:28492532 PMID:28873162 PMID:28977582 PMID:29386252 PMID:29545045 PMID:29625052 PMID:29792313 PMID:29875428 PMID:29925701 PMID:30050099 PMID:30273935 PMID:30375904 PMID:30484866 PMID:30877234 PMID:30951038 PMID:31194233 PMID:31492822 PMID:32035780 PMID:32741965 PMID:33219105 PMID:33748650 PMID:34012134 PMID:34906457 PMID:35626065 PMID:35938916 More...
NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
G
Tmem127
transmembrane protein 127
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 PMID:20923864 PMID:21156949 PMID:21613359 PMID:22136840 PMID:22419703 PMID:22541004 PMID:23666964 PMID:24033266 PMID:24334765 PMID:24694336 PMID:25389632 PMID:25637381 PMID:25741868 PMID:26267327 PMID:26269449 PMID:26467025 PMID:26960314 PMID:27153395 PMID:28384794 PMID:28492532 PMID:28855235 PMID:29625052 PMID:29909963 PMID:30113886 PMID:30877234 PMID:31666924 PMID:32575117 PMID:32877928 PMID:32994724 PMID:33051659 PMID:33219105 PMID:34439168 More...
NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519
G
Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Chromaffinoma
ClinVar
PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 PMID:8270255 PMID:8592333 PMID:8956040 PMID:9156047 PMID:9671762 PMID:9751722 PMID:9829911 PMID:9829912 PMID:10102622 PMID:10766184 PMID:10900011 PMID:12000816 PMID:14722919 PMID:14973063 PMID:15300849 PMID:17102069 PMID:18836774 PMID:19464396 PMID:19574279 PMID:19602254 PMID:20351605 PMID:20660572 PMID:21463266 PMID:22799452 PMID:23512077 PMID:23541568 PMID:24033266 PMID:24583008 PMID:25119015 PMID:25157968 PMID:25563310 PMID:25583177 PMID:25741868 PMID:25966224 PMID:26211615 PMID:26467025 PMID:26681312 PMID:26822237 PMID:27539324 PMID:27651169 PMID:28454591 PMID:28492532 PMID:28873162 PMID:28944243 PMID:29616089 PMID:29790589 PMID:29978187 PMID:30042107 PMID:31368132 PMID:34566400 More...
NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
G
Alox12b
arachidonate 12-lipoxygenase, 12R type
ISO
ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
ClinVar
NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
G
Snord118
small nucleolar RNA, C/D box 118
ISO
ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 PMID:29970281 PMID:29984895 PMID:29984898 PMID:29996189 PMID:30794980 PMID:31521395 PMID:32342562 PMID:33029936 PMID:35710456 More...
NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
G
Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts
ClinVar
PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 PMID:29970281 PMID:29984895 PMID:29984898 PMID:29996189 PMID:30794980 PMID:31521395 PMID:32342562 PMID:33029936 PMID:35710456 More...
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
G
Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISS
MouseDO
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
G
Cacna1b
calcium voltage-gated channel subunit alpha1 B
ISO
RGD
PMID:16289869
RGD:1626312
NCBI chr 3:7,380,892...7,546,104
Ensembl chr 3:7,380,922...7,546,091
G
Chrm1
cholinergic receptor, muscarinic 1
ISO
RGD
PMID:17764462
RGD:5133415
NCBI chr 1:205,567,226...205,583,001
Ensembl chr 1:205,567,220...205,582,356
G
Atrx
ATRX, chromatin remodeler
disease_progression
ISO
protein:decreased expression:nucleus, lung
RGD
PMID:31499081
RGD:127285379
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
G
Col4a3
collagen type IV alpha 3 chain
severity
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:25105010
RGD:151660336
NCBI chr 9:83,875,849...84,004,955
Ensembl chr 9:83,875,561...84,001,895
G
Creb5
cAMP responsive element binding protein 5
severity
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:25105010
RGD:151660336
NCBI chr 4:82,393,091...82,794,320
Ensembl chr 4:82,393,730...82,790,325
G
Men1
menin 1
ISO
ClinVar Annotator: match by term: Lung carcinoid tumor
ClinVar
PMID:9215689 PMID:9361035 PMID:9463336 PMID:11303512 PMID:11579199 PMID:12112656 PMID:12213668 PMID:15240620 PMID:15635078 PMID:15670192 PMID:17065424 PMID:17853334 PMID:17879353 PMID:19041010 PMID:21340156 PMID:22470073 PMID:23321498 PMID:24915123 PMID:25291050 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29036195 PMID:30324798 PMID:30339208 More...
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
G
Ptprb
protein tyrosine phosphatase, receptor type, B
severity
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:25105010
RGD:151660336
NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748
G
Akt1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Lung oat cell carcinoma
ClinVar
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:18954143 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
G
B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Lung oat cell carcinoma
ClinVar
PMID:26619011
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
G
Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Lung oat cell carcinoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26851524 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:29661094 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34496175 PMID:37712948 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
G
Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Lung oat cell carcinoma
ClinVar
PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 PMID:11504908 PMID:11875759 PMID:11948419 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20926450 PMID:21190448 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:23335809 PMID:23361946 PMID:23399955 PMID:23470840 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:28677221 PMID:29359449 PMID:29706350 PMID:30311380 PMID:30528446 PMID:31159747 PMID:32350270 PMID:32442409 PMID:33077954 More...
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Lung oat cell carcinoma
ClinVar
PMID:1352883 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 PMID:10966849 PMID:12541220 PMID:15643604 PMID:16269091 PMID:16449662 PMID:17096365 PMID:18677112 PMID:18682685 PMID:20041224 PMID:23532519 PMID:24225018 PMID:24688104 PMID:25741868 PMID:26925970 PMID:28492532 PMID:28575107 PMID:28724667 PMID:28873162 More...
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
G
Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Lung oat cell carcinoma
ClinVar
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 PMID:1631151 PMID:1683921 PMID:1915267 PMID:1978757 PMID:2046748 PMID:3784963 PMID:7732013 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8336941 PMID:8344492 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8633021 PMID:9049183 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9399658 PMID:9399838 PMID:9407971 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9825943 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11313981 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12124823 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12726864 PMID:12792784 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15722483 PMID:15825182 PMID:15951970 PMID:15977174 PMID:16209708 PMID:16288208 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16633321 PMID:16682957 PMID:16741917 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17567834 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:17881637 PMID:18307025 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:19101993 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19454241 PMID:19462533 PMID:19556618 PMID:19834951 PMID:19850740 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20234365 PMID:20308654 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:21056685 PMID:21059199 PMID:21080251 PMID:21113594 PMID:21118481 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22822097 PMID:22862161 PMID:22869713 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22955915 PMID:22999923 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23265383 PMID:23334668 PMID:23484829 PMID:23538418 PMID:23612969 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24307375 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25157968 PMID:25256166 PMID:25326637 PMID:25339994 PMID:25404506 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26022348 PMID:26230955 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:27022024 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27523101 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27911860 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28271309 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:29025599 PMID:29070607 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30306255 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30546832 PMID:30630526 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31300551 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32187361 PMID:32658383 PMID:32817165 PMID:32906206 PMID:33208383 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33635883 PMID:33674644 PMID:34266904 PMID:35938033 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Acvr1b
activin A receptor type 1B
ISO
RGD
PMID:33880365
RGD:151665493
NCBI chr 7:132,286,266...132,329,679
Ensembl chr 7:132,286,275...132,329,673
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Adcy1
adenylate cyclase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr14:81,911,240...82,020,594
Ensembl chr14:81,911,099...82,028,969
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Akt1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Small cell lung cancer
ClinVar
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:18954143 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Apoa1
apolipoprotein A1
treatment
ISO
RGD
PMID:26996551
RGD:11561502
NCBI chr 8:46,527,251...46,529,035
Ensembl chr 8:46,527,144...46,529,035
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Apoc3
apolipoprotein C3
treatment
ISO
RGD
PMID:26996551
RGD:11561502
NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583
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Ascl1
achaete-scute family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26253517
NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993
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Atm
ATM serine/threonine kinase
susceptibility
ISO
DNA:SNP:intron:(rs227060) (human)
RGD
PMID:28642860
RGD:150383339
NCBI chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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Atrx
ATRX, chromatin remodeler
disease_progression
ISO
RGD
PMID:31374064 PMID:29748005
RGD:127285382 , RGD:127285383
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Avp
arginine vasopressin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2832203
NCBI chr 3:117,793,447...117,805,091
Ensembl chr 3:117,793,457...117,795,425
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Axin2
axin 2
disease_progression
ISO
DNA:SNP::1386 C>T(human)
RGD
PMID:30346805
RGD:151356655
NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231
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B2m
beta-2 microglobulin
ISO
ClinVar Annotator: match by term: Small cell lung carcinoma
ClinVar
PMID:26619011
NCBI chr 3:109,095,740...109,101,764
Ensembl chr 3:109,095,729...109,101,766
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Bcl2
BCL2, apoptosis regulator
susceptibility
ISO
DNA:SNP: :rs2279115(human)
RGD
PMID:26311051
RGD:13673911
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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Bclaf1
BCL2-associated transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832
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Ccnd1
cyclin D1
disease_progression
ISO
DNA:snp:exon:c.870G>A (human)
RGD
PMID:29739297
RGD:13673912
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
protein:increased expression:lung
RGD
PMID:9500468
RGD:13673920
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cdyl
chromodomain Y-like
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr17:28,982,009...29,204,345
Ensembl chr17:28,982,037...29,204,313
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Chrna3
cholinergic receptor nicotinic alpha 3 subunit
susceptibility
ISO
mRNA:increased expression:lung DNA:SNP:cds:rs8040868(human)
RGD
PMID:20124469 PMID:22280835
RGD:150527851 , RGD:151347453
NCBI chr 8:55,401,668...55,415,165
Ensembl chr 8:55,401,702...55,415,165
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Chrna5
cholinergic receptor nicotinic alpha 5 subunit
ISO
mRNA:increased expression:lung
RGD
PMID:20124469
RGD:150527851
NCBI chr 8:55,369,794...55,398,526
Ensembl chr 8:55,369,794...55,398,146
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Chrna9
cholinergic receptor nicotinic alpha 9 subunit
susceptibility
ISO
DNA:SNPs:multiples:
RGD
PMID:22280835
RGD:151347453
NCBI chr14:42,235,218...42,241,939
Ensembl chr14:42,235,226...42,242,192
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Chrnb4
cholinergic receptor nicotinic beta 4 subunit
ISO
mRNA:increased expression:lung
RGD
PMID:20124469
RGD:150527851
NCBI chr 8:55,417,583...55,437,027
Ensembl chr 8:55,418,313...55,437,027
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Ckb
creatine kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2828370
NCBI chr 6:130,729,420...130,732,301
Ensembl chr 6:130,729,423...130,732,315
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Cntnap2
contactin associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027
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Col22a1
collagen type XXII alpha 1 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 7:103,730,939...103,968,452
Ensembl chr 7:103,731,037...103,968,462
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Col4a2
collagen type IV alpha 2 chain
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr16:78,047,591...78,183,360
Ensembl chr16:78,047,602...78,183,839
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Crebbp
CREB binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941188
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Csf1r
colony stimulating factor 1 receptor
exacerbates
ISO
protein:increased expression:lung (human)
RGD
PMID:1390197
RGD:150524305
NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9093707
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
susceptibility
ISO
DNA:SNP:CDS: (rs6068816) (human)
RGD
PMID:31264381
RGD:151665340
NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
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Dip2c
disco-interacting protein 2 homolog C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr17:60,647,346...61,032,467
Ensembl chr17:60,649,065...61,032,305
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Dll4
delta like canonical Notch ligand 4
treatment
IEP
RGD
PMID:33628824
RGD:155663482
NCBI chr 3:106,317,114...106,327,004
Ensembl chr 3:106,316,986...106,326,931
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Dnmt3b
DNA methyltransferase 3 beta
susceptibility
ISO
DNA:SNPs:promoter:-283T >C,-579G>T(human)
RGD
PMID:15528220
RGD:9589086
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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E2f1
E2F transcription factor 1
disease_progression treatment
ISO
mRNA, protein:increased expression:lung
RGD
PMID:24755270 PMID:11313916 PMID:23792570
RGD:13464335 , RGD:13464344 , RGD:13464337
NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
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Eef2
eukaryotic translation elongation factor 2
ISO
protein:increased expression:lung (human)
RGD
PMID:24589652
RGD:153297816
NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20837450
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
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Elavl2
ELAV like RNA binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 5:105,960,872...106,086,463
Ensembl chr 5:105,960,875...106,109,097
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Ep300
E1A binding protein p300
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941188
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Epha7
Eph receptor A7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941188
NCBI chr 5:42,975,353...43,128,703
Ensembl chr 5:42,975,405...43,127,112
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Fat1
FAT atypical cadherin 1
ISO
DNA:mutations:multiple (human)
RGD
PMID:31199602
RGD:150429733
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941188
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Foxa1
forkhead box A1
disease_progression
ISO
RGD
PMID:22383183
RGD:151665760
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
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Grik3
glutamate ionotropic receptor kainate type subunit 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 5:137,767,865...137,989,617
Ensembl chr 5:137,767,865...137,984,307
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Grm8
glutamate metabotropic receptor 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 4:55,805,762...56,731,690
Ensembl chr 4:55,805,955...56,730,831
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Grp
gastrin releasing peptide
disease_progression
ISO
protein:increased expression:serum (human)
RGD
PMID:30146822
RGD:401700396
NCBI chr18:59,388,679...59,402,061
Ensembl chr18:59,388,274...59,402,061
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Id2
inhibitor of DNA binding 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23582323
NCBI chr 6:41,740,556...41,742,393
Ensembl chr 6:41,728,946...41,744,400
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Insm1
INSM transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23582323
NCBI chr 3:133,640,030...133,642,963
Ensembl chr 3:133,639,580...133,643,003
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Itgb1
integrin subunit beta 1
disease_progression treatment
ISO
RGD
PMID:21063403 PMID:12168902
RGD:13792831 , RGD:13792832
NCBI chr19:56,705,123...56,753,199
Ensembl chr19:56,705,171...56,753,195
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Kdm6a
lysine demethylase 6A
ISO
DNA:mutations:multiple: (human)
RGD
PMID:31199602
RGD:150429733
NCBI chr X:4,337,466...4,477,100
Ensembl chr X:4,337,750...4,477,062
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Khsrp
KH-type splicing regulatory protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 9:1,862,555...1,872,403
Ensembl chr 9:1,862,899...1,872,451
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Kif21a
kinesin family member 21A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 7:122,062,523...122,179,051
Ensembl chr 7:122,062,537...122,178,999
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15499612
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Kmt2a
lysine methyltransferase 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941188
NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
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Kmt2d
lysine methyltransferase 2D
disease_progression
ISO
DNA:missense mutations, insertion/deletion:plasma
RGD
PMID:28007623 PMID:29748005 PMID:27873319 PMID:29627316
RGD:150523766 , RGD:127285383 , RGD:150523768 , RGD:150523767
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Lama3
laminin subunit alpha 3
ISO
DNA:hyper-methylation:promoter:
RGD
PMID:12855645
RGD:13793369
NCBI chr18:3,523,168...3,751,722
Ensembl chr18:3,523,133...3,751,353
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Lamb3
laminin subunit beta 3
ISO
DNA:hyper-methylation:promoter:
RGD
PMID:12855645
RGD:13793369
NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405
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Lamc2
laminin subunit gamma 2
ISO
DNA:hyper-methylation:promoter:
RGD
PMID:12855645
RGD:13793369
NCBI chr13:65,284,664...65,344,164
Ensembl chr13:65,284,664...65,344,200
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Lyrm9
LYR motif containing 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr10:63,725,718...63,739,772
Ensembl chr10:63,725,743...63,739,772
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Max
MYC associated factor X
ISO
DNA:loss of heterozygosity:lung
RGD
PMID:24362264
RGD:13793386
NCBI chr 6:95,636,859...95,662,204
Ensembl chr 6:95,636,858...95,662,137
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Mthfr
methylenetetrahydrofolate reductase
severity
ISO
protein:missense mutation:cds:p.A222V (human)
RGD
PMID:17533396
RGD:4891158
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
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Mtor
mechanistic target of rapamycin kinase
disease_progression
ISO
DNA:SNP: :rs2536(human)
RGD
PMID:28280736
RGD:13825123
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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Myc
MYC proto-oncogene, bHLH transcription factor
disease_progression
ISO
RGD
PMID:28089889
RGD:13793389
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Mycl
MYCL proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:22941189
NCBI chr 5:135,274,713...135,281,584
Ensembl chr 5:135,274,748...135,281,582
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Ndrg1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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Notch1
notch receptor 1
treatment
IEP
RGD
PMID:33628824
RGD:155663482
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Pbrm1
polybromo 1
disease_progression
ISO
RGD
PMID:29748005
RGD:127285383
NCBI chr16:6,213,507...6,312,895
Ensembl chr16:6,213,300...6,311,780
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Small cell lung carcinoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:22162582 PMID:22162589 PMID:22209294 PMID:22271473 PMID:22357840 PMID:22658544 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23408298 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24265155 PMID:24559322 PMID:25157968 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26851524 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29446767 PMID:29661094 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32778138 PMID:34496175 PMID:37712948 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
disease_progression
ISO
DNA:SNPs: :rs3756668,rs12755(human)
RGD
PMID:28280736
RGD:13825123
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Plscr4
phospholipid scramblase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 8:92,987,290...93,026,056
Ensembl chr 8:92,987,381...93,026,049
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Small cell lung carcinoma
CTD ClinVar
PMID:1945792 PMID:9467011 PMID:9915974 PMID:10866302 PMID:11051241 PMID:11504908 PMID:11875759 PMID:11948419 PMID:16773562 PMID:17526801 PMID:17942903 PMID:18767981 PMID:19457929 PMID:20085938 PMID:20300775 PMID:20301661 PMID:20926450 PMID:21190448 PMID:21194675 PMID:21659347 PMID:21822720 PMID:21824802 PMID:21828076 PMID:22266152 PMID:22320991 PMID:22327138 PMID:22595938 PMID:22941188 PMID:23335809 PMID:23361946 PMID:23399955 PMID:23470840 PMID:24292679 PMID:24778394 PMID:25157968 PMID:25527629 PMID:25741868 PMID:26619011 PMID:26798346 PMID:27477328 PMID:27535533 PMID:28475857 PMID:28492532 PMID:28677221 PMID:29359449 PMID:29706350 PMID:30311380 PMID:30528446 PMID:31159747 PMID:32350270 PMID:32442409 PMID:33077954 More...
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Ptk2
protein tyrosine kinase 2
disease_progression
ISO
DNA:CNV::
RGD
PMID:21800286 PMID:20802517
RGD:13825133 , RGD:13825141
NCBI chr 7:105,126,725...105,331,848
Ensembl chr 7:105,126,728...105,331,783
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Rad52
RAD52 homolog, DNA repair protein
susceptibility treatment
ISO
DNA:SNP:3'utr: (rs7963551) (human) DNA:SNP: (rs10774474)(human)
RGD
PMID:26629180 PMID:27531263
RGD:151660337 , RGD:151660339
NCBI chr 4:153,106,062...153,128,598
Ensembl chr 4:153,106,062...153,128,207
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Rarb
retinoic acid receptor, beta
ISO
DNA:methylation: :
RGD
PMID:29851970
RGD:13825142
NCBI chr15:8,700,533...9,051,288
Ensembl chr15:8,406,492...9,051,288
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Rassf8
Ras association domain family member 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 4:178,716,110...178,798,042
Ensembl chr 4:178,719,992...178,796,690
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Rb1
RB transcriptional corepressor 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Small cell lung carcinoma
CTD ClinVar
PMID:1352883 PMID:2594029 PMID:7881418 PMID:9632788 PMID:9671401 PMID:10486322 PMID:10966849 PMID:12541220 PMID:15643604 PMID:16269091 PMID:16449662 PMID:17096365 PMID:18677112 PMID:18682685 PMID:20041224 PMID:22941188 PMID:22941189 PMID:23532519 PMID:24225018 PMID:24688104 PMID:25157968 PMID:25741868 PMID:26925970 PMID:28492532 PMID:28575107 PMID:28724667 PMID:28873162 More...
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Rictor
RPTOR independent companion of MTOR, complex 2
severity
ISO
associated with Neoplasm Metastasis; protein:increased expression:lung, lymph node (human) DNA:CNV, amplification:exon (human)
RGD
PMID:31454632 PMID:27863413
RGD:152995447 , RGD:152995517
NCBI chr 2:55,811,877...55,903,893
Ensembl chr 2:55,811,322...55,901,426
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Rims2
regulating synaptic membrane exocytosis 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491
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Runx1t1
RUNX1 partner transcriptional co-repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 5:27,187,674...27,338,070
Ensembl chr 5:27,187,551...27,335,592
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Satb2
SATB homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707
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Skp2
S-phase kinase associated protein 2
ISO
mRNA:increased expression:lung:
RGD
PMID:12107105
RGD:13825152
NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
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Slit2
slit guidance ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941188
NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26343384
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Sox2
SRY-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 2:117,536,929...117,539,340
Ensembl chr 2:117,536,929...117,539,338
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Tmem132d
transmembrane protein 132D
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr12:28,270,039...28,917,324
Ensembl chr12:28,270,712...28,915,374
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma
CTD ClinVar
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1569604 PMID:1631137 PMID:1631151 PMID:1683921 PMID:1915267 PMID:1978757 PMID:2046748 PMID:3784963 PMID:7732013 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8080050 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8242631 PMID:8336941 PMID:8344492 PMID:8423216 PMID:8425176 PMID:8464896 PMID:8479749 PMID:8527048 PMID:8633021 PMID:9049183 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9399658 PMID:9399838 PMID:9407971 PMID:9525742 PMID:9546439 PMID:9569050 PMID:9572492 PMID:9598730 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9825943 PMID:10089074 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10519380 PMID:10567903 PMID:10589545 PMID:10616528 PMID:10797439 PMID:10864200 PMID:10871862 PMID:10914716 PMID:10922393 PMID:11051239 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11313981 PMID:11429705 PMID:11479205 PMID:11593407 PMID:11668501 PMID:11782540 PMID:11793474 PMID:11896595 PMID:11920959 PMID:12124823 PMID:12509279 PMID:12672316 PMID:12695689 PMID:12726864 PMID:12792784 PMID:12826609 PMID:12917626 PMID:14559903 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15077194 PMID:15381368 PMID:15390294 PMID:15541116 PMID:15580553 PMID:15607980 PMID:15722483 PMID:15781620 PMID:15825182 PMID:15951970 PMID:15977174 PMID:16209708 PMID:16288208 PMID:16401470 PMID:16474844 PMID:16489069 PMID:16494995 PMID:16508005 PMID:16633321 PMID:16682957 PMID:16741917 PMID:16778209 PMID:16818505 PMID:16827139 PMID:16861262 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17390010 PMID:17401428 PMID:17417627 PMID:17427234 PMID:17530187 PMID:17540308 PMID:17567834 PMID:17606709 PMID:17636407 PMID:17724467 PMID:17875924 PMID:17881637 PMID:18307025 PMID:18511570 PMID:18555592 PMID:18628487 PMID:18685109 PMID:19101993 PMID:19336573 PMID:19367569 PMID:19378321 PMID:19454241 PMID:19462533 PMID:19556618 PMID:19834951 PMID:19850740 PMID:20013323 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20234365 PMID:20308654 PMID:20407015 PMID:20505364 PMID:20506564 PMID:20516128 PMID:20522432 PMID:20593220 PMID:20693561 PMID:20805372 PMID:21056685 PMID:21059199 PMID:21080251 PMID:21113594 PMID:21118481 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21483000 PMID:21484931 PMID:21514416 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21590121 PMID:21601526 PMID:21761402 PMID:22110706 PMID:22114072 PMID:22186996 PMID:22198284 PMID:22265402 PMID:22319594 PMID:22427690 PMID:22484423 PMID:22553421 PMID:22710932 PMID:22713868 PMID:22768918 PMID:22811390 PMID:22822097 PMID:22862161 PMID:22869713 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22923379 PMID:22941188 PMID:22941189 PMID:22955915 PMID:22999923 PMID:23161690 PMID:23172776 PMID:23246812 PMID:23265383 PMID:23334668 PMID:23484829 PMID:23538418 PMID:23612969 PMID:23630318 PMID:23667202 PMID:23713777 PMID:23894400 PMID:23950206 PMID:23967324 PMID:24033266 PMID:24038938 PMID:24065105 PMID:24307375 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24702488 PMID:24744791 PMID:24810334 PMID:25157968 PMID:25256166 PMID:25326637 PMID:25339994 PMID:25404506 PMID:25433984 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25757876 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25927356 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26022348 PMID:26230955 PMID:26271412 PMID:26332594 PMID:26425688 PMID:26467025 PMID:26497680 PMID:26556299 PMID:26585234 PMID:26619011 PMID:26628864 PMID:26681312 PMID:26786923 PMID:26787237 PMID:26818906 PMID:26822237 PMID:26845104 PMID:27022024 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27523101 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27724982 PMID:27873457 PMID:27895058 PMID:27911860 PMID:27959731 PMID:27993330 PMID:28135145 PMID:28152038 PMID:28271309 PMID:28356770 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28477316 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:29025599 PMID:29070607 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29753700 PMID:29979965 PMID:30076369 PMID:30128536 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30306255 PMID:30311369 PMID:30327374 PMID:30352134 PMID:30546832 PMID:30630526 PMID:30709381 PMID:30720243 PMID:30816478 PMID:30840781 PMID:31016814 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31206626 PMID:31300551 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32187361 PMID:32658383 PMID:32817165 PMID:32906206 PMID:33208383 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33635883 PMID:33674644 PMID:34266904 PMID:35938033 PMID:36988593 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tp73
tumor protein p73
ISO
DNA:mutations:multiple: (human)
RGD
PMID:26168399
RGD:151347582
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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Ttr
transthyretin
ISO
protein:increased expression:lung (human)
RGD
PMID:26943652
RGD:151665207
NCBI chr18:11,941,791...11,951,008
Ensembl chr18:11,943,789...11,951,008
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Ubxn11
UBX domain protein 11
ISO
ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma
ClinVar
NCBI chr 5:146,329,666...146,353,529
Ensembl chr 5:146,329,842...146,353,526
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Xpo5
exportin 5
severity
ISO
DNA:snp, haplotype:3' utr:c.*659A>C (rs11077) (human)
RGD
PMID:24648983
RGD:11041738
NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
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Zdbf2
zinc finger, DBF-type containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941189
NCBI chr 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265
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Acvr1
activin A receptor type 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24705250
NCBI chr 3:42,978,558...43,097,892
Ensembl chr 3:42,978,561...43,098,241
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Adgrb1
adhesion G protein-coupled receptor B1
severity
ISO
RGD
PMID:23761815
RGD:13831356
NCBI chr 7:106,404,827...106,476,902
Ensembl chr 7:106,404,958...106,476,902
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Akt1
AKT serine/threonine kinase 1
disease_progression
ISO
RGD
PMID:19240976
RGD:5509079
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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Akt2
AKT serine/threonine kinase 2
severity
ISO
RGD
PMID:20167810
RGD:13674163
NCBI chr 1:82,877,228...82,933,828
Ensembl chr 1:82,883,547...82,933,817
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Akt3
AKT serine/threonine kinase 3
severity
ISO
RGD
PMID:20167810
RGD:13674163
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Anxa1
annexin A1
ISO
associated with Tuberous Sclerosis;mRNA:increased expression:brain
RGD
PMID:20133820
RGD:7421564
NCBI chr 1:217,861,175...217,877,205
Ensembl chr 1:217,861,175...217,877,343
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Ar
androgen receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr X:63,104,771...63,273,934
Ensembl chr X:63,104,771...63,273,925
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Atrx
ATRX, chromatin remodeler
disease_progression severity
ISO
RGD
PMID:24810474 PMID:23765250
RGD:9586026 , RGD:11040585
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Braf
B-Raf proto-oncogene, serine/threonine kinase
onset
ISO
CTD Direct Evidence: marker/mechanism DNA:rearrangement: : DNA:mutation:cds:p.V600E(human)
CTD RGD
PMID:23817572 PMID:19794125 PMID:25346165
RGD:11069832 , RGD:11567238
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Brd7
bromodomain containing 7
severity
ISO
protein:increased expression:brain:
RGD
PMID:24404152
RGD:9586441
NCBI chr19:18,708,792...18,737,497
Ensembl chr19:18,709,022...18,737,494
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Bst2
bone marrow stromal cell antigen 2
severity
ISO
RGD
PMID:21565182
RGD:14398497
NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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Cadm2
cell adhesion molecule 2
severity
ISO
protein:decreased expression:brain
RGD
PMID:30816549
RGD:19165125
NCBI chr11:4,548,367...5,525,420
Ensembl chr11:4,555,159...5,525,400
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Camk2g
calcium/calmodulin-dependent protein kinase II gamma
disease_progression
ISO
RGD
PMID:12937144
RGD:13702480
NCBI chr15:3,504,017...3,563,050
Ensembl chr15:3,504,085...3,563,050
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Ccnd1
cyclin D1
severity
ISO
RGD
PMID:10419598
RGD:13681931
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Dll3
delta like canonical Notch ligand 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 1:83,562,011...83,570,008
Ensembl chr 1:83,562,014...83,569,750
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Dok2
docking protein 2
disease_progression
ISO
mRNA,protein:increased expression, increased phosphorylation:astrocytoma (human)
RGD
PMID:27975172
RGD:152177494
NCBI chr15:45,826,984...45,841,409
Ensembl chr15:45,827,398...45,841,402
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Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Esr2
estrogen receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Fgfr1
Fibroblast growth factor receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fubp1
far upstream element binding protein 1
ISO
mRNA:increased expression:brain (human)
RGD
PMID:32481602
RGD:151361197
NCBI chr 2:241,159,481...241,186,591
Ensembl chr 2:241,159,512...241,186,602
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G3bp1
G3BP stress granule assembly factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106762
NCBI chr10:39,586,864...39,620,268
Ensembl chr10:39,586,864...39,620,268
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Gstm1
glutathione S-transferase mu 1
severity
ISO
DNA:deletion: :
RGD
PMID:12241105
RGD:5490125
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
susceptibility
ISO
DNA:polymorphism:exon:p.A114V (human)
RGD
PMID:12241105
RGD:5490125
NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226
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Hey1
hes-related family bHLH transcription factor with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312
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Hey2
hes-related family bHLH transcription factor with YRPW motif 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 1:26,822,131...26,832,218
Ensembl chr 1:26,822,131...26,832,218
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11223164
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Il16
interleukin 16
ISO
protein:increased expression:brain
RGD
PMID:17221335
RGD:5024941
NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130
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Kiaa1549
KIAA1549 homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572
NCBI chr 4:66,840,674...66,968,407
Ensembl chr 4:66,760,162...66,968,436
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Kras
KRAS proto-oncogene, GTPase
susceptibility
ISO
sporadic pilocytic astrocytoma, OMIM:137800 DNA:mutation:cds:p.G12D(mouse) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:23817572 PMID:16247081 PMID:24038521
RGD:1600476 , RGD:13702858
NCBI chr 4:178,185,418...178,218,484
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Lats1
large tumor suppressor kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17049657
NCBI chr 1:2,160,411...2,193,640
Ensembl chr 1:2,160,411...2,193,640
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Lats2
large tumor suppressor kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17049657
NCBI chr15:31,825,068...31,877,193
Ensembl chr15:31,825,092...31,877,220
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Map2k3
mitogen activated protein kinase kinase 3
ISO
protein:increased expression, increased phosphorylation:brain
RGD
PMID:17406030
RGD:1641940
NCBI chr10:45,608,145...45,629,492
Ensembl chr10:45,607,163...45,629,492
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11223164
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mir155hg
Mir155 host gene
severity
ISO
RGD
PMID:27764782
RGD:11571728
NCBI chr11:23,773,468...23,775,697
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Mmp3
matrix metallopeptidase 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20188714
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20188714
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mre11
MRE11 homolog, double strand break repair nuclease
severity
ISO
mRNA:decreased expression:brain tumor (human)
RGD
PMID:17034947
RGD:2317736
NCBI chr 8:11,618,876...11,680,451
Ensembl chr 8:11,632,354...11,678,279
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Ncoa3
nuclear receptor coactivator 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24680642
NCBI chr 3:154,738,566...154,821,395
Ensembl chr 3:154,738,581...154,818,594
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Ndrg1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 7:98,684,487...98,725,869
Ensembl chr 7:98,684,487...98,725,880
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Nedd8
NEDD8 ubiquitin like modifier
ISO
RGD
PMID:12533840
RGD:1549458
NCBI chr15:29,153,556...29,165,575
Ensembl chr15:29,153,556...29,166,160
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Nf1
neurofibromin 1
ISO
protein:decreased expression:brain: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:20176786 PMID:23817572 PMID:10973261 PMID:10931370
RGD:1302542 , RGD:12743656
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Notch1
notch receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 3:9,277,955...9,323,531
Ensembl chr 3:9,278,086...9,323,531
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Notch2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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Pcmt1
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1
ISO
protein:decreased expression,decreased activity:brain:
RGD
PMID:15857672
RGD:10448283
NCBI chr 1:2,111,756...2,160,354
Ensembl chr 1:2,111,763...2,159,201
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23817572
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:16496379
RGD:151361115
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Tial1
Tia1 cytotoxic granule-associated RNA binding protein-like 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27106762
NCBI chr 1:183,008,358...183,045,092
Ensembl chr 1:183,009,253...183,031,637
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Tp53
tumor protein p53
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Malignant astrocytoma DNA:nonsense mutation:cds:
CTD ClinVar RGD
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:2046748 PMID:4122735 PMID:7565304 PMID:7783166 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8550239 PMID:8718514 PMID:8829627 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9667734 PMID:10519380 PMID:10922393 PMID:11370630 PMID:11782540 PMID:12826609 PMID:12885464 PMID:12917626 PMID:15722483 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15958617 PMID:16206219 PMID:16401470 PMID:16494995 PMID:16551709 PMID:16818505 PMID:17015838 PMID:17311302 PMID:17606709 PMID:18511570 PMID:19012332 PMID:19468865 PMID:20128691 PMID:20176786 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:23538418 PMID:24033266 PMID:24122735 PMID:24573247 PMID:24835218 PMID:24857548 PMID:25157968 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26786923 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27621308 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32817165 PMID:32888145 PMID:33163847 PMID:33245408 PMID:33407742 PMID:33840814 PMID:34529667 PMID:34709361 PMID:35974385 PMID:36988593 PMID:24038521 More...
RGD:13702858
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Eif1ax
eukaryotic translation initiation factor 1A, X-linked
ISO
ClinVar Annotator: match by term: Choroidal melanoma
ClinVar
PMID:25741868
NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
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Kdm4b
lysine demethylase 4B
ISO
DNA:amplification:cds (human)
RGD
PMID:21785329
RGD:9587769
NCBI chr 9:1,158,737...1,237,233
Ensembl chr 9:1,158,752...1,236,543
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Hpgd
15-hydroxyprostaglandin dehydrogenase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11352223
NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
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Ret
ret proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7915165
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Ank3
ankyrin 3
ISO
ClinVar Annotator: match by term: Classic medulloblastoma
ClinVar
NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300
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Apc
APC regulator of WNT signaling pathway
ISO
associated with Adenomatous Polyposis Coli;DNA:mutations: : CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:7661930 PMID:17238184
RGD:6484523
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Arid1b
AT-rich interaction domain 1B
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:25741868 PMID:26822237
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Atoh1
atonal bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18347096
NCBI chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154
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Bap1
Brca1 associated protein 1
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:24970262 PMID:25741868 PMID:26719535 PMID:28492532 PMID:29641532 PMID:32068069 More...
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Brca2
BRCA2, DNA repair associated
susceptibility
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:251866 PMID:278235 PMID:2200631 PMID:8589730 PMID:8673090 PMID:9150172 PMID:9150174 PMID:9667259 PMID:9792861 PMID:10644434 PMID:10660329 PMID:10790213 PMID:10978364 PMID:11149425 PMID:11179017 PMID:11307153 PMID:11389159 PMID:11400546 PMID:11597388 PMID:11802209 PMID:11843247 PMID:11857748 PMID:12065746 PMID:12373604 PMID:12655567 PMID:12845657 PMID:12955716 PMID:14559878 PMID:14647210 PMID:14670928 PMID:15024741 PMID:15070707 PMID:15131399 PMID:15168169 PMID:15340362 PMID:15382066 PMID:15689453 PMID:15800311 PMID:16030099 PMID:16168118 PMID:16168123 PMID:16199547 PMID:16284991 PMID:16389418 PMID:16455195 PMID:16683254 PMID:16758124 PMID:16825431 PMID:16905680 PMID:16912212 PMID:16920162 PMID:17063270 PMID:17148771 PMID:17301269 PMID:17513806 PMID:17574839 PMID:17688236 PMID:17925560 PMID:17972171 PMID:18042939 PMID:18393245 PMID:18446624 PMID:18465347 PMID:18489799 PMID:18703817 PMID:18704680 PMID:19016756 PMID:19241424 PMID:19491284 PMID:19620486 PMID:19654294 PMID:19656164 PMID:19863560 PMID:19941162 PMID:19941167 PMID:19949876 PMID:19967274 PMID:20033483 PMID:20104584 PMID:20167696 PMID:20373018 PMID:20616022 PMID:20694749 PMID:20736950 PMID:20858050 PMID:21120943 PMID:21205087 PMID:21324516 PMID:21520273 PMID:21643751 PMID:21702907 PMID:21709188 PMID:21913181 PMID:21918853 PMID:21952622 PMID:22006311 PMID:22009639 PMID:22085629 PMID:22144684 PMID:22217648 PMID:22426013 PMID:22505045 PMID:22535016 PMID:22632462 PMID:22666503 PMID:22752604 PMID:22762150 PMID:22798144 PMID:22923021 PMID:23096105 PMID:23199084 PMID:23233716 PMID:23318356 PMID:23415752 PMID:23469205 PMID:23479189 PMID:23569316 PMID:23613520 PMID:23621881 PMID:23725378 PMID:23767878 PMID:23942203 PMID:24033266 PMID:24055113 PMID:24123850 PMID:24141157 PMID:24156927 PMID:24301060 PMID:24312913 PMID:24504028 PMID:24528374 PMID:24556621 PMID:24607278 PMID:24728189 PMID:24814045 PMID:24830819 PMID:24884479 PMID:24916970 PMID:25066507 PMID:25085752 PMID:25136594 PMID:25186627 PMID:25236687 PMID:25330149 PMID:25382762 PMID:25428789 PMID:25452441 PMID:25525159 PMID:25637381 PMID:25682074 PMID:25737278 PMID:25741868 PMID:25802882 PMID:25863477 PMID:25884701 PMID:25927356 PMID:26026974 PMID:26064523 PMID:26187060 PMID:26219728 PMID:26287763 PMID:26295337 PMID:26360800 PMID:26425718 PMID:26439132 PMID:26467025 PMID:26541979 PMID:26580448 PMID:26657402 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26786923 PMID:26834852 PMID:26845104 PMID:27153395 PMID:27165126 PMID:27257965 PMID:27376475 PMID:27425403 PMID:27433846 PMID:27469594 PMID:27553368 PMID:27732944 PMID:27741520 PMID:27767231 PMID:27831900 PMID:27836010 PMID:28008555 PMID:28039656 PMID:28111427 PMID:28176296 PMID:28243543 PMID:28281021 PMID:28294317 PMID:28324225 PMID:28423363 PMID:28477318 PMID:28492532 PMID:28503720 PMID:28541631 PMID:28616458 PMID:28657667 PMID:28715532 PMID:28724667 PMID:28726808 PMID:28831036 PMID:28915716 PMID:28918466 PMID:28973083 PMID:28993434 PMID:29061375 PMID:29084914 PMID:29088781 PMID:29161300 PMID:29176636 PMID:29321669 PMID:29339979 PMID:29348823 PMID:29360161 PMID:29371908 PMID:29446198 PMID:29478780 PMID:29483665 PMID:29489754 PMID:29492181 PMID:29506128 PMID:29625052 PMID:29752822 PMID:29753700 PMID:29790872 PMID:29907814 PMID:29909963 PMID:29915322 PMID:30078507 PMID:30093976 PMID:30122538 PMID:30128899 PMID:30199306 PMID:30274973 PMID:30287823 PMID:30309722 PMID:30322717 PMID:30350268 PMID:30548481 PMID:30606148 PMID:30612635 PMID:30630528 PMID:30696104 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30787465 PMID:30875412 PMID:30972954 PMID:31112363 PMID:31131967 PMID:31174498 PMID:31209999 PMID:31214711 PMID:31263054 PMID:31263571 PMID:31331294 PMID:31360904 PMID:31396961 PMID:31411802 PMID:31447099 PMID:31451522 PMID:31589614 PMID:31721781 PMID:31742824 PMID:31825140 PMID:31837001 PMID:31911673 PMID:31948886 PMID:31957001 PMID:31980526 PMID:32029870 PMID:32098980 PMID:32101877 PMID:32164353 PMID:32190957 PMID:32295079 PMID:32300229 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32354836 PMID:32426482 PMID:32438681 PMID:32467295 PMID:32521533 PMID:32581362 PMID:32710294 PMID:32719484 PMID:32720237 PMID:32772980 PMID:32846166 PMID:32853339 PMID:32875559 PMID:32885271 PMID:33008098 PMID:33087929 PMID:33113089 PMID:33309985 PMID:33372952 PMID:33461583 PMID:33471991 PMID:33478551 PMID:33608381 PMID:33773534 PMID:33918338 PMID:34008015 PMID:34196900 PMID:34399810 PMID:34413315 PMID:34567246 PMID:34657373 PMID:35220195 PMID:35264596 PMID:35353237 PMID:35535697 PMID:35753294 PMID:36329109 PMID:36988593 PMID:17476307 More...
RGD:11038793
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Brd2
bromodomain containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24231268
NCBI chr20:4,727,078...4,735,389
Ensembl chr20:4,728,151...4,735,388
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Brd3
bromodomain containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24231268
NCBI chr 3:10,773,163...10,829,675
Ensembl chr 3:10,775,272...10,829,577
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Brd4
bromodomain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24231268 PMID:31594641
NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539
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Ccnd1
cyclin D1
ISO
RGD
PMID:16943274
RGD:13681932
NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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Ccne1
cyclin E1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 1:90,781,947...90,791,188
Ensembl chr 1:90,781,949...90,791,101
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Cdk6
cyclin-dependent kinase 6
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19270706 PMID:23138228 PMID:16314645
RGD:13702096
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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Cdk9
cyclin-dependent kinase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31594641
NCBI chr 3:15,996,467...16,001,315
Ensembl chr 3:15,996,468...16,002,410
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Crebbp
CREB binding protein
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar
PMID:21390126 PMID:21680795 PMID:21796119 PMID:22832583 PMID:23334668 PMID:23685749 PMID:23778141 PMID:26087898 PMID:26619011 PMID:27257180 PMID:28492532 PMID:28970362 PMID:29551561 PMID:33560380 More...
NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 PMID:10192393 PMID:10391090 PMID:10666372 PMID:11351304 PMID:11930117 PMID:11950921 PMID:12124804 PMID:15133491 PMID:19234609 PMID:23033978 PMID:23265383 PMID:24614104 PMID:25157968 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26350204 PMID:26619011 PMID:26822237 PMID:27959697 PMID:28492532 PMID:28575650 PMID:31526516 More...
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Ddx3x
DEAD-box helicase 3, X-linked
ISO
ClinVar Annotator: match by term: Medulloblastoma CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:26822237 PMID:27058758
NCBI chr X:9,479,532...9,493,169
Ensembl chr X:9,479,532...9,493,168
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Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:25741868
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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Dnmt1
DNA methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19155313
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Ehmt1
euchromatic histone lysine methyltransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 3:7,580,680...7,729,046
Ensembl chr 3:7,580,683...7,729,007
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Elp1
elongator acetyltransferase complex subunit 1
ISO
ClinVar Annotator: match by term: Medulloblastoma CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
OMIM ClinVar CTD
PMID:9536098 PMID:11179008 PMID:11179021 PMID:12116234 PMID:16199547 PMID:16964593 PMID:17206408 PMID:17576681 PMID:18303054 PMID:20301359 PMID:22190446 PMID:22850346 PMID:22975760 PMID:23515154 PMID:24033266 PMID:24173031 PMID:25741868 PMID:26392352 PMID:27065010 PMID:28492532 PMID:29289840 PMID:29762696 PMID:32296180 More...
NCBI chr 5:71,453,338...71,505,833
Ensembl chr 5:71,456,310...71,505,762
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Ep300
E1A binding protein p300
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26619011
NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088 Ensembl chr 7:113,106,247...113,136,088
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20168248
NCBI chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078
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Esr2
estrogen receptor 2
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:21351254
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Fbxw7
F-box and WD repeat domain containing 7
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar
PMID:26619011
NCBI chr 2:170,149,706...170,311,536
Ensembl chr 2:170,149,694...170,309,941
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:10766980 PMID:23819449 PMID:25705862 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 PMID:33448156 More...
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fli1
Fli-1 proto-oncogene, ETS transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
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Foxo3
forkhead box O3
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237
NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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Gpr161
G protein-coupled receptor 161
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Medulloblastoma
OMIM CTD ClinVar
PMID:31609649
NCBI chr13:77,578,257...77,623,661
Ensembl chr13:77,577,739...77,619,613
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Gstm1
glutathione S-transferase mu 1
ISO
DNA:deletion: :
RGD
PMID:18952980
RGD:5490237
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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Gstt1
glutathione S-transferase theta 1
ISO
DNA:deletion: :
RGD
PMID:18952980
RGD:5490237
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hic1
HIC ZBTB transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18347096
NCBI chr10:60,014,520...60,019,475
Ensembl chr10:60,011,528...60,019,475
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20946881 PMID:21352804 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 PMID:30231226 PMID:36201590 More...
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Irs2
insulin receptor substrate 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
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Kat6a
lysine acetyltransferase 6A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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Kdm4b
lysine demethylase 4B
ISO
mRNA:increased expression:brain (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19270706 PMID:19270706
RGD:9587481
NCBI chr 9:1,158,737...1,237,233
Ensembl chr 9:1,158,752...1,236,543
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Kdm4c
lysine demethylase 4C
ISO
mRNA:increased expression:brain (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19270706 PMID:19270706
RGD:9587481
NCBI chr 5:88,100,710...88,306,821
Ensembl chr 5:88,100,733...88,306,818
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L3mbtl2
L3MBTL histone methyl-lysine binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 7:113,186,303...113,209,706
Ensembl chr 7:113,186,370...113,207,489
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L3mbtl3
L3MBTL histone methyl-lysine binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 1:18,988,763...19,089,247
Ensembl chr 1:18,990,618...19,089,263
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Mpl
MPL proto-oncogene, thrombopoietin receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 5:131,973,895...131,987,472
Ensembl chr 5:131,973,895...131,986,797
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706 PMID:31694585
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Mycl
MYCL proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 5:135,274,713...135,281,584
Ensembl chr 5:135,274,748...135,281,582
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Medulloblastoma
CTD ClinVar
PMID:19270706 PMID:26619011
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Nono
non-POU domain containing, octamer-binding
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:25741868 PMID:26822237
NCBI chr X:66,554,131...66,571,992
Ensembl chr X:66,554,098...66,571,952
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Nras
NRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar
PMID:2407301 PMID:2674680 PMID:2989702 PMID:3102434 PMID:8120410 PMID:16291983 PMID:17332249 PMID:17517660 PMID:18375819 PMID:18390968 PMID:18633438 PMID:19657110 PMID:19775298 PMID:20130576 PMID:20179705 PMID:21079152 PMID:22962325 PMID:23414587 PMID:23431193 PMID:25157968 PMID:25741868 PMID:26619011 PMID:27993330 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Otx2
orthodenticle homeobox 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416
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Pdgfra
platelet derived growth factor receptor alpha
severity
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19270706 PMID:25576913
RGD:13702904
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16353168 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18371219 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19671852 PMID:19903786 PMID:20177704 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25157968 PMID:25741868 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:29988677 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21652733
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
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Pramex1
PRAME like, X-linked 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16179254
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Prkar1a
protein kinase cAMP-dependent type I regulatory subunit alpha
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237 PMID:28492532
NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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Prmt5
protein arginine methyltransferase 5
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31694585
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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Ptch1
patched 1
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:155255 ClinVar Annotator: match by term: Medulloblastoma
CTD MouseDO ClinVar RGD
PMID:16301862 PMID:16419085 PMID:18347096 PMID:19155313 PMID:19213072 PMID:22952776 PMID:25741868 PMID:28492532 PMID:19321799 More...
RGD:150523834
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Ptch2
patched 2
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 5:130,571,956...130,592,506
Ensembl chr 5:130,572,312...130,592,405
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Rassf1
Ras association domain family member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21880625
NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar RGD
PMID:25741868 PMID:28492532 PMID:10783170
RGD:1302544
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:11436122 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36900197
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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S100a10
S100 calcium binding protein A10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17579622
NCBI chr 2:179,221,012...179,229,659
Ensembl chr 2:179,220,887...179,229,661
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S100a4
S100 calcium-binding protein A4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17579622
NCBI chr 2:176,090,951...176,093,258
Ensembl chr 2:176,091,804...176,093,254
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S100a6
S100 calcium binding protein A6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17579622
NCBI chr 2:176,100,619...176,102,181
Ensembl chr 2:176,100,899...176,102,180
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Scg5
secretogranin V
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17334394
NCBI chr 3:100,544,101...100,588,558
Ensembl chr 3:100,544,099...100,588,463
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Scml2
Scm polycomb group protein like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr X:33,523,179...33,677,672
Ensembl chr X:33,524,530...33,652,742
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Sf3b2
splicing factor 3b, subunit 2
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME
ClinVar
PMID:26619011
NCBI chr 1:202,570,423...202,590,774
Ensembl chr 1:202,570,423...202,590,759
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Skp2
S-phase kinase associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 2:58,161,226...58,189,293
Ensembl chr 2:58,161,229...58,189,338
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:26822237
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Smo
smoothened, frizzled class receptor
treatment
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar RGD
PMID:19726788 PMID:22679179 PMID:25759020 PMID:22084163
RGD:150521622
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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Smyd4
SET and MYND domain containing 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr10:60,200,067...60,246,387
Ensembl chr10:60,200,114...60,246,387
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Stat3
signal transducer and activator of transcription 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19001435
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Strada
STE20 related adaptor alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21652733
NCBI chr10:91,094,849...91,123,890
Ensembl chr10:91,094,687...91,123,830
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Sufu
SUFU negative regulator of hedgehog signaling
ISO IGI
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:12068298 PMID:17102621 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 PMID:24651015 PMID:24728327 PMID:25326637 PMID:25403219 PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:28717660 PMID:28873162 PMID:29186568 PMID:29641532 PMID:29753700 PMID:33024317 PMID:34056767 PMID:34675124 PMID:35768194 PMID:36825822 PMID:12068298 PMID:27234928 More...
RGD:1599191 , RGD:150573693
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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Tp53
tumor protein p53
disease_progression
ISO
ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic protein:increased expression:nucleus:
ClinVar RGD
PMID:1359493 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1644930 PMID:1683921 PMID:1737852 PMID:1978757 PMID:2046748 PMID:2826609 PMID:7732013 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8099841 PMID:8118819 PMID:8164043 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8527048 PMID:8825920 PMID:9096669 PMID:9150393 PMID:9242456 PMID:9290701 PMID:9399838 PMID:9407971 PMID:9546439 PMID:9569050 PMID:9598730 PMID:9632751 PMID:9635828 PMID:9704930 PMID:9825943 PMID:10089074 PMID:10411893 PMID:10797439 PMID:10864200 PMID:11051239 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11479205 PMID:11782540 PMID:11793474 PMID:11920959 PMID:12007217 PMID:12672316 PMID:12826609 PMID:12917626 PMID:14743206 PMID:15004724 PMID:15017592 PMID:15037740 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15825182 PMID:15951970 PMID:16401470 PMID:16489069 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17417627 PMID:17427234 PMID:17540308 PMID:17606709 PMID:17636407 PMID:17881637 PMID:18511570 PMID:18685109 PMID:19378321 PMID:19454241 PMID:19556618 PMID:20013323 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20522432 PMID:20693561 PMID:21059199 PMID:21187651 PMID:21305319 PMID:21319261 PMID:21343334 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22265402 PMID:22484423 PMID:22710932 PMID:22713868 PMID:22811390 PMID:22899716 PMID:22915647 PMID:22919068 PMID:22955915 PMID:22983585 PMID:23161690 PMID:23165212 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23263379 PMID:23538418 PMID:23612969 PMID:23667202 PMID:23792586 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24381225 PMID:24487413 PMID:24501221 PMID:24573247 PMID:24603336 PMID:24641375 PMID:24651012 PMID:24651015 PMID:24677579 PMID:24810334 PMID:25157968 PMID:25339994 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25741868 PMID:25787918 PMID:25925845 PMID:25927356 PMID:25952993 PMID:26014290 PMID:26024390 PMID:26230955 PMID:26271412 PMID:26332594 PMID:26467025 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26786923 PMID:26787237 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27374712 PMID:27463065 PMID:27533082 PMID:27680515 PMID:27683180 PMID:27724982 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28724667 PMID:28861920 PMID:28873162 PMID:28915717 PMID:29025599 PMID:29070607 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30216591 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30546832 PMID:30816478 PMID:31105275 PMID:31119730 PMID:31127191 PMID:31296311 PMID:31748977 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32187361 PMID:32906206 PMID:33245408 PMID:33257846 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33633026 PMID:36988593 PMID:10783170 PMID:11451203 More...
RGD:1302544 , RGD:8547823
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tsc2
TSC complex subunit 2
ISO
DNA:polymorphism:intron
RGD
PMID:11603814
RGD:11072879
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Tubb4a
tubulin, beta 4A class IVa
ISO
ClinVar Annotator: match by term: Classic medulloblastoma
ClinVar
NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291
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Vav1
vav guanine nucleotide exchange factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19270706
NCBI chr 9:2,161,985...2,209,951
Ensembl chr 9:2,157,900...2,208,937
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Wrn
WRN RecQ like helicase
ISO
ClinVar Annotator: match by term: Medulloblastoma
ClinVar
PMID:8968742 PMID:9225981 PMID:16673358 PMID:16786514 PMID:20301687 PMID:24033266 PMID:25182132 PMID:25390333 PMID:25741868 PMID:27667302 PMID:28492532 More...
NCBI chr16:58,763,517...58,898,604
Ensembl chr16:58,763,504...58,895,450
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome | ClinVar Annotator: match by term: Melanoma astrocytoma syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:865368 PMID:2677576 PMID:5001868 PMID:7566978 PMID:7640518 PMID:7647780 PMID:7666917 PMID:7718873 PMID:7780957 PMID:7796400 PMID:7881419 PMID:7987387 PMID:7987388 PMID:8012957 PMID:8213823 PMID:8521414 PMID:8552158 PMID:8552400 PMID:8570179 PMID:8573142 PMID:8595405 PMID:8603820 PMID:8653684 PMID:8668202 PMID:8710906 PMID:8723678 PMID:8727306 PMID:8755727 PMID:8880901 PMID:9036865 PMID:9053859 PMID:9132280 PMID:9166859 PMID:9324288 PMID:9328469 PMID:9389568 PMID:9416844 PMID:9425228 PMID:9516223 PMID:9536098 PMID:9603434 PMID:9699728 PMID:9751050 PMID:9823374 PMID:9856841 PMID:9916806 PMID:10389768 PMID:10390011 PMID:10398427 PMID:10491434 PMID:10498896 PMID:10508477 PMID:10627132 PMID:10667595 PMID:10719365 PMID:10738302 PMID:10869234 PMID:10874641 PMID:10892805 PMID:10922411 PMID:10951521 PMID:10956390 PMID:11075991 PMID:11136714 PMID:11156381 PMID:11319798 PMID:11477665 PMID:11500805 PMID:11506491 PMID:11518711 PMID:11556834 PMID:11571653 PMID:11579459 PMID:11595726 PMID:11687599 PMID:11726555 PMID:11807902 PMID:11815963 PMID:12001124 PMID:12072543 PMID:12352668 PMID:12454511 PMID:12517341 PMID:12606942 PMID:12700603 PMID:12853981 PMID:14508519 PMID:14646620 PMID:14679123 PMID:15009729 PMID:15075790 PMID:15146471 PMID:15150307 PMID:15235029 PMID:15761864 PMID:15856016 PMID:15860862 PMID:15863662 PMID:15945100 PMID:16169933 PMID:16234564 PMID:16307646 PMID:16397522 PMID:16818274 PMID:16896043 PMID:16905682 PMID:17047042 PMID:17055252 PMID:17167857 PMID:17171691 PMID:17218939 PMID:17397031 PMID:17440112 PMID:17492760 PMID:17576681 PMID:17713569 PMID:17909018 PMID:17992122 PMID:18023021 PMID:18025365 PMID:18178632 PMID:18335566 PMID:18337833 PMID:18363633 PMID:18519632 PMID:18573309 PMID:18803811 PMID:18813118 PMID:18843795 PMID:18981015 PMID:18983535 PMID:19260062 PMID:19331830 PMID:19360740 PMID:19484507 PMID:19500876 PMID:19523171 PMID:19571771 PMID:19712690 PMID:19799798 PMID:20093296 PMID:20340136 PMID:20526219 PMID:20539244 PMID:20653773 PMID:20876876 PMID:21085193 PMID:21150883 PMID:21325014 PMID:21462282 PMID:21614589 PMID:21801156 PMID:21893440 PMID:22440936 PMID:22447455 PMID:22636603 PMID:22804906 PMID:22841127 PMID:23190892 PMID:23371019 PMID:23897584 PMID:24185512 PMID:24659262 PMID:24660985 PMID:24728327 PMID:24733792 PMID:24737347 PMID:24935963 PMID:25064638 PMID:25078331 PMID:25157968 PMID:25186627 PMID:25227142 PMID:25356972 PMID:25685612 PMID:25741868 PMID:25780468 PMID:25787093 PMID:25803691 PMID:25813228 PMID:25877891 PMID:25980754 PMID:26104880 PMID:26206375 PMID:26223839 PMID:26225579 PMID:26381259 PMID:26467025 PMID:26542317 PMID:26619011 PMID:26650189 PMID:26650572 PMID:26658419 PMID:26670561 PMID:26681309 PMID:26775776 PMID:26845104 PMID:27181379 PMID:27267843 PMID:27287845 PMID:27756164 PMID:27804060 PMID:27960642 PMID:27993330 PMID:28060055 PMID:28135145 PMID:28146043 PMID:28440912 PMID:28454591 PMID:28492532 PMID:28592523 PMID:28640387 PMID:28717660 PMID:28726808 PMID:28765326 PMID:28830827 PMID:28873162 PMID:28944238 PMID:28979722 PMID:29091774 PMID:29263814 PMID:29316957 PMID:29464027 PMID:29506128 PMID:29541281 PMID:29543703 PMID:29641532 PMID:29661971 PMID:29684080 PMID:29774366 PMID:29922827 PMID:29945567 PMID:29983899 PMID:30038052 PMID:30039340 PMID:30113427 PMID:30207590 PMID:30274933 PMID:30291219 PMID:30303537 PMID:30339520 PMID:30548481 PMID:30709382 PMID:30967399 PMID:31382929 PMID:31432501 PMID:31517177 PMID:31567591 PMID:31921681 PMID:32113160 PMID:32191290 PMID:32455486 PMID:32482799 PMID:32957588 PMID:33050356 PMID:33322357 PMID:33436027 PMID:33766116 PMID:33823155 PMID:33945383 PMID:34028844 PMID:34069952 PMID:35001868 PMID:35171259 PMID:35264596 PMID:35566480 PMID:109563903 More...
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
G
Akt1
AKT serine/threonine kinase 1
ISO
ClinVar Annotator: match by term: Meningeal Neoplasms
ClinVar
PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 PMID:18954143 PMID:19418217 PMID:19487299 PMID:19853286 PMID:20233444 PMID:20453058 PMID:21464312 PMID:21512767 PMID:21793738 PMID:22538770 PMID:22610119 PMID:22722201 PMID:22722839 PMID:22980975 PMID:23237847 PMID:23348505 PMID:23700467 PMID:23728071 PMID:23934607 PMID:24190505 PMID:24657128 PMID:25157968 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
G
Tp53
tumor protein p53
IMP
RGD
PMID:27528400
RGD:12738450
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Akt1
AKT serine/threonine kinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334667
NCBI chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
G
Alad
aminolevulinate dehydratase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16140629
NCBI chr 5:75,961,993...75,972,334
Ensembl chr 5:75,961,993...75,972,474
G
Bap1
Brca1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
G
Cst3
cystatin C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19747051
NCBI chr 3:136,336,923...136,340,796
Ensembl chr 3:136,336,920...136,340,822
G
Cstb
cystatin B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19747051
NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
G
Ctsl
cathepsin L
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19747051
NCBI chr17:764,370...770,533
Ensembl chr17:764,309...770,548
G
Dnmt1
DNA methyltransferase 1
ISO
ClinVar Annotator: match by term: Meningioma
ClinVar
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
G
Epb41l3
erythrocyte membrane protein band 4.1-like 3
ISO
RGD
PMID:10888600
RGD:1300356
NCBI chr 9:109,056,178...109,260,607
Ensembl chr 9:109,016,113...109,260,607
G
Gpx3
glutathione peroxidase 3
severity
ISO
RGD
PMID:19885562
RGD:401827824
NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035
G
Gstm3
glutathione S-transferase mu 3
ISO
DNA: deletion: intron 6
RGD
PMID:16598069
RGD:5688743
NCBI chr 2:195,590,450...195,612,578
Ensembl chr 2:195,607,289...195,612,475
G
Gstm5
glutathione S-transferase, mu 5
ISO
DNA: deletion: intron 6
RGD
PMID:16598069
RGD:5688743
NCBI chr 2:195,531,599...195,534,562
Ensembl chr 2:195,531,495...195,534,553
G
Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
G
Hgf
hepatocyte growth factor
disease_progression
ISO
protein:increased expression:brain:
RGD
PMID:12115353
RGD:8548633
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Kmt2d
lysine methyltransferase 2D
disease_progression
ISO
RGD
PMID:26240495
RGD:155582218
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
G
Mllt10
MLLT10, histone lysine methyltransferase DOT1L cofactor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21804547
NCBI chr17:80,821,870...80,949,349
Ensembl chr17:80,822,556...80,949,345
G
Mn1
MN1 proto-oncogene, transcriptional regulator
ISO
DNA:translocation
RGD
PMID:16398473 PMID:7731706
RGD:1624321 , RGD:1600423
NCBI chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651
G
Mtrr
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
susceptibility
ISO
DNA:SNP: :66A>G, (rs1801394) (human)
RGD
PMID:18483342
RGD:5508186
NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
G
Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
ClinVar Annotator: match by term: Meningioma DNA:loss of heterozygosity CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:7868131 PMID:8162072 PMID:8379998 PMID:8882871 PMID:9643284 PMID:9718334 PMID:9884492 PMID:16983642 PMID:18033041 PMID:21294614 PMID:22711605 PMID:23196945 PMID:23334667 PMID:25741868 PMID:26073919 PMID:28492532 PMID:29781505 PMID:31273341 PMID:33067351 PMID:16398473 PMID:7669741 More...
RGD:1624321 , RGD:150530508
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
G
Pdgfb
platelet derived growth factor subunit B
ISO
ClinVar Annotator: match by term: Meningioma
ClinVar
PMID:2212004 PMID:3133569 PMID:3969118
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
G
Pgr
progesterone receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8008172 PMID:19731987 PMID:19747051
NCBI chr 8:6,072,673...6,131,552
Ensembl chr 8:6,072,673...6,131,344
G
Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Meningioma
CTD ClinVar
PMID:12085208 PMID:17873882 PMID:19340001 PMID:19458356 PMID:19829307 PMID:22491738 PMID:23349303 PMID:23442912 PMID:24809327 PMID:25741868 PMID:26773036 PMID:27221918 PMID:28492532 PMID:28755079 PMID:29373119 PMID:30287823 More...
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human)
RGD
PMID:22038540
RGD:155804288
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
G
Smarce1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
ISO
DNA:multiple:multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:35681054 PMID:29409008
RGD:151708704
NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
G
Smo
smoothened, frizzled class receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334667
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
G
Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:SNP:exon 10: p.R399Q (human)
RGD
PMID:18330515
RGD:401827274
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
G
Xrcc3
X-ray repair cross complementing 3
susceptibility
ISO
DNA:SNP:exon 8: p.T241M (rs861539) (Human)
RGD
PMID:18330515
RGD:401827274
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
G
Cd68
Cd68 molecule
ISO
protein:increased expression:tumor (human)
RGD
PMID:22050913
RGD:40925916
NCBI chr10:54,381,814...54,383,693
Ensembl chr10:54,381,815...54,383,697
G
Fgfr3
fibroblast growth factor receptor 3
ISO
mRNA:decreased expression:skin (human)
RGD
PMID:28359267
RGD:38500206
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
G
Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25277525
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
G
Spa17
sperm autoantigenic protein 17
ISO
mRNA,protein:increased expression:nucleus
RGD
PMID:31218705
RGD:27226803
NCBI chr 8:37,307,432...37,318,519
Ensembl chr 8:37,307,557...37,318,639
G
Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7661930
NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
G
Aste1
asteroid homolog 1
ISO
DNA:mutations:cds: (human)
RGD
PMID:28218421
RGD:153297765
NCBI chr 8:106,026,570...106,044,694
Ensembl chr 8:106,026,515...106,044,430
G
Mlh1
mutL homolog 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MMR DEFICIENCY
CTD ClinVar
PMID:8872463 PMID:9377556 PMID:9927033 PMID:10422993 PMID:10713887 PMID:10874307 PMID:10995807 PMID:11208710 PMID:11343035 PMID:11585727 PMID:11920650 PMID:12658575 PMID:14635101 PMID:15173238 PMID:15655560 PMID:15713769 PMID:15849733 PMID:15870828 PMID:15996210 PMID:16181381 PMID:16769400 PMID:17312306 PMID:17889038 PMID:18307539 PMID:18561205 PMID:18726168 PMID:19116412 PMID:19690142 PMID:19731080 PMID:20045164 PMID:20052760 PMID:20233461 PMID:20924129 PMID:21056691 PMID:21247423 PMID:21636617 PMID:21681552 PMID:21868491 PMID:22776989 PMID:23047549 PMID:24033266 PMID:24278394 PMID:24344984 PMID:24362816 PMID:24456667 PMID:25085752 PMID:25525159 PMID:25741868 PMID:26437257 PMID:26467025 PMID:26681312 PMID:27064304 PMID:27300552 PMID:27498913 PMID:27601186 PMID:27606285 PMID:27978560 PMID:28445943 PMID:28449805 PMID:28492532 PMID:28514183 PMID:28874130 PMID:28944238 PMID:29238914 PMID:29345684 PMID:30077346 PMID:30262796 PMID:30322717 PMID:30521064 PMID:30982232 PMID:31118792 PMID:31248605 PMID:31391288 PMID:32040686 PMID:32635641 PMID:32980694 PMID:35223509 PMID:36627197 More...
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
G
Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: MMR DEFICIENCY
ClinVar
PMID:6096739 PMID:8566964 PMID:8592341 PMID:9288790 PMID:10080150 PMID:10323887 PMID:10375096 PMID:11151427 PMID:11291077 PMID:11601928 PMID:12132870 PMID:12362047 PMID:12522549 PMID:12624141 PMID:15235030 PMID:15254659 PMID:15655560 PMID:15849733 PMID:15855432 PMID:15872200 PMID:16216036 PMID:16395668 PMID:16451135 PMID:16636019 PMID:16736289 PMID:16830052 PMID:16996571 PMID:17192056 PMID:17312306 PMID:17473388 PMID:17569143 PMID:17720936 PMID:18270343 PMID:18289827 PMID:18325052 PMID:18383312 PMID:18772310 PMID:18951462 PMID:19389263 PMID:19419416 PMID:19731080 PMID:20007843 PMID:20176959 PMID:21120944 PMID:21387278 PMID:21598002 PMID:21642682 PMID:21788563 PMID:21868491 PMID:21926548 PMID:22034109 PMID:22290698 PMID:22581703 PMID:23047549 PMID:23990280 PMID:24033266 PMID:24040339 PMID:24326041 PMID:24344984 PMID:24362816 PMID:24415873 PMID:24474082 PMID:24506336 PMID:24549055 PMID:24763289 PMID:24851142 PMID:24933000 PMID:25085752 PMID:25093288 PMID:25110875 PMID:25117503 PMID:25133505 PMID:25194673 PMID:25430799 PMID:25525159 PMID:25637381 PMID:25741868 PMID:26094658 PMID:26096739 PMID:26250988 PMID:26332594 PMID:26333163 PMID:26437257 PMID:26467025 PMID:26552419 PMID:26580448 PMID:26878173 PMID:26951660 PMID:27328445 PMID:27601186 PMID:27606285 PMID:27629256 PMID:27863258 PMID:28195393 PMID:28202063 PMID:28449805 PMID:28492532 PMID:28640387 PMID:28767289 PMID:28828701 PMID:28874130 PMID:28944238 PMID:29025352 PMID:29458332 PMID:29489754 PMID:29575718 PMID:29887214 PMID:29889250 PMID:29967336 PMID:30093976 PMID:30131383 PMID:30238922 PMID:30267214 PMID:30274973 PMID:30306255 PMID:30521064 PMID:30998989 PMID:31054147 PMID:31159747 PMID:31162827 PMID:31297992 PMID:31391288 PMID:31491536 PMID:31569399 PMID:31615790 PMID:31660093 PMID:31742824 PMID:32075053 PMID:32338768 PMID:32522261 PMID:32658311 PMID:32659497 PMID:32719484 PMID:32832836 PMID:33357406 PMID:33422027 PMID:33471991 PMID:33484353 PMID:33606809 PMID:33630411 PMID:33848333 PMID:34347074 PMID:34371384 PMID:34426522 PMID:34761457 PMID:35245693 PMID:35264596 PMID:36672847 PMID:36845387 More...
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
G
Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: MMR DEFICIENCY
ClinVar
PMID:10508506 PMID:10537275 PMID:10612827 PMID:11470537 PMID:11807791 PMID:12019211 PMID:14520694 PMID:15483016 PMID:15782118 PMID:15872200 PMID:16000562 PMID:16199547 PMID:16408224 PMID:16636019 PMID:16813607 PMID:16885385 PMID:17531815 PMID:17594722 PMID:17909073 PMID:18269114 PMID:18301448 PMID:18566915 PMID:19389263 PMID:19924528 PMID:20028993 PMID:20301390 PMID:20379851 PMID:20487569 PMID:20531397 PMID:20937110 PMID:21120944 PMID:22006311 PMID:22081473 PMID:22102614 PMID:22290698 PMID:22495361 PMID:22703879 PMID:22851212 PMID:23047549 PMID:23359684 PMID:23621914 PMID:23652311 PMID:23733757 PMID:24033266 PMID:24040339 PMID:24100870 PMID:24323032 PMID:24362816 PMID:24440087 PMID:24448499 PMID:24728189 PMID:24728327 PMID:25085752 PMID:25186627 PMID:25231023 PMID:25318681 PMID:25430799 PMID:25479140 PMID:25525159 PMID:25637381 PMID:25642631 PMID:25741868 PMID:25892863 PMID:25980754 PMID:26206375 PMID:26333163 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26530882 PMID:26552419 PMID:26689913 PMID:26845104 PMID:26898890 PMID:27363726 PMID:27398995 PMID:27487738 PMID:28125075 PMID:28135145 PMID:28206961 PMID:28323777 PMID:28466842 PMID:28492532 PMID:28514183 PMID:28528517 PMID:28528518 PMID:28531214 PMID:28640387 PMID:28767289 PMID:28873162 PMID:28888541 PMID:28944238 PMID:29212164 PMID:29345684 PMID:29348823 PMID:29360161 PMID:29368341 PMID:29489754 PMID:29596542 PMID:29684080 PMID:29717530 PMID:29755653 PMID:29887214 PMID:29967336 PMID:30067863 PMID:30072391 PMID:30093976 PMID:30267214 PMID:30322717 PMID:30324682 PMID:30702970 PMID:30787465 PMID:30982232 PMID:31054147 PMID:31100584 PMID:31159747 PMID:31204389 PMID:31307542 PMID:31360874 PMID:31391288 PMID:31422818 PMID:31447099 PMID:31658756 PMID:31666926 PMID:31742824 PMID:31882575 PMID:31965077 PMID:32068069 PMID:32547938 PMID:32658311 PMID:32719484 PMID:32773772 PMID:32832836 PMID:32980694 PMID:33294277 PMID:33422027 PMID:33471991 PMID:33563768 PMID:34088725 PMID:34178123 PMID:34426522 PMID:34445333 PMID:35449176 PMID:35904628 PMID:36243179 PMID:36988593 More...
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
G
Pms2
PMS1 homolog 2, mismatch repair system component
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: MMR DEFICIENCY ClinVar Annotator: match by term: Constitutional mismatch repair deficiency syndrome | ClinVar Annotator: match by term: Turcot syndrome
CTD ClinVar
PMID:2440087 PMID:6144131 PMID:7628019 PMID:7629132 PMID:7632227 PMID:7661930 PMID:9488480 PMID:9536098 PMID:9683794 PMID:10037723 PMID:10763829 PMID:11574484 PMID:12714694 PMID:14756672 PMID:15077197 PMID:15256438 PMID:15845562 PMID:15872200 PMID:15887099 PMID:15955779 PMID:16144131 PMID:16283678 PMID:16338176 PMID:16426742 PMID:16472587 PMID:16507833 PMID:16609022 PMID:16619239 PMID:17016615 PMID:17557300 PMID:17576681 PMID:18007577 PMID:18273873 PMID:18602922 PMID:18824584 PMID:19092773 PMID:19132747 PMID:19156169 PMID:19283792 PMID:19495563 PMID:20186688 PMID:20186689 PMID:20205264 PMID:20487569 PMID:20531397 PMID:20533529 PMID:20581245 PMID:21204794 PMID:21239990 PMID:21261604 PMID:21356188 PMID:21376568 PMID:21618646 PMID:22081473 PMID:22120844 PMID:22290698 PMID:22577899 PMID:22658618 PMID:22703879 PMID:22848017 PMID:22918162 PMID:22949387 PMID:23012243 PMID:23435383 PMID:23629955 PMID:23652311 PMID:23709753 PMID:23837913 PMID:24027009 PMID:24033266 PMID:24055113 PMID:24072394 PMID:24326041 PMID:24362816 PMID:24434690 PMID:24556621 PMID:24689082 PMID:24710284 PMID:24728189 PMID:24728327 PMID:24897087 PMID:25117502 PMID:25186627 PMID:25194673 PMID:25345868 PMID:25430799 PMID:25477341 PMID:25512458 PMID:25525159 PMID:25559809 PMID:25567908 PMID:25637381 PMID:25741868 PMID:25850602 PMID:25856668 PMID:25871621 PMID:25980754 PMID:26110232 PMID:26116798 PMID:26232782 PMID:26247049 PMID:26270727 PMID:26272126 PMID:26318770 PMID:26333163 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26691941 PMID:26720728 PMID:26798439 PMID:26845104 PMID:26895986 PMID:26898890 PMID:26976419 PMID:27017610 PMID:27037742 PMID:27050224 PMID:27060149 PMID:27060170 PMID:27064304 PMID:27356891 PMID:27433846 PMID:27435373 PMID:27449771 PMID:27476653 PMID:27535533 PMID:27589204 PMID:27601186 PMID:27806231 PMID:27863258 PMID:27878467 PMID:27930734 PMID:27978560 PMID:27997549 PMID:28007021 PMID:28125078 PMID:28135145 PMID:28152038 PMID:28218421 PMID:28365877 PMID:28449805 PMID:28466842 PMID:28491141 PMID:28492532 PMID:28503720 PMID:28503822 PMID:28514183 PMID:28528518 PMID:28562508 PMID:28596308 PMID:28724667 PMID:28726808 PMID:28805995 PMID:28873162 PMID:28874130 PMID:29489754 PMID:29570743 PMID:29625052 PMID:29684080 PMID:29785153 PMID:29875428 PMID:29887214 PMID:29967336 PMID:30013564 PMID:30039884 PMID:30077346 PMID:30093976 PMID:30113427 PMID:30122538 PMID:30155321 PMID:30256826 PMID:30322717 PMID:30374176 PMID:30376427 PMID:30447919 PMID:30521064 PMID:30608896 PMID:30612635 PMID:30613976 PMID:30680046 PMID:30702970 PMID:30760869 PMID:30764633 PMID:30787465 PMID:31056861 PMID:31159747 PMID:31327751 PMID:31391288 PMID:31410062 PMID:31422574 PMID:31433215 PMID:31447099 PMID:31465090 PMID:31507588 PMID:31589614 PMID:31599855 PMID:31857677 PMID:31883735 PMID:31921681 PMID:31942411 PMID:31948886 PMID:31992580 PMID:32012241 PMID:32039725 PMID:32060697 PMID:32571878 PMID:32634176 PMID:32642664 PMID:32658311 PMID:32719484 PMID:32773772 PMID:32775946 PMID:32832836 PMID:32885271 PMID:33087929 PMID:33120919 PMID:33258288 PMID:33259954 PMID:33471991 PMID:33504652 PMID:33693762 PMID:34048176 PMID:34271781 PMID:34284872 PMID:34285288 PMID:34371384 PMID:35089076 PMID:35263119 PMID:35264596 PMID:35372080 PMID:35402282 PMID:35430768 PMID:35449176 PMID:35475445 PMID:35535697 PMID:35886069 PMID:36360190 PMID:36988593 More...
NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
G
Pole
DNA polymerase epsilon, catalytic subunit
ISO
DNA:SNP:CDS:rs4077170 (human)
RGD
PMID:28218421
RGD:153297765
NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
G
Rnaset2
ribonuclease T2
ISO
DNA:mutations:cds: (human)
RGD
PMID:28218421
RGD:153297765
NCBI chr 1:52,576,344...52,603,151
Ensembl chr 1:52,585,929...52,603,147
G
Slc22a25
solute carrier family 22, member 25
ISO
DNA:mutations:cds: (human)
RGD
PMID:28218421
RGD:153297765
NCBI chr 1:205,338,698...205,498,486
Ensembl chr 1:205,338,699...205,433,085
G
Taf1b
TATA-box binding protein associated factor, RNA polymerase I subunit B
ISO
DNA:mutations:cds: (human)
RGD
PMID:28218421
RGD:153297765
NCBI chr 6:41,116,980...41,194,593
Ensembl chr 6:41,117,420...41,194,593
G
Tfdp1
transcription factor Dp-1
ISO
DNA:mutations:cds: (human)
RGD
PMID:28218421
RGD:153297765
NCBI chr16:76,162,040...76,200,871
Ensembl chr16:76,162,043...76,200,817
G
Tgfbr2
transforming growth factor, beta receptor 2
ISO
DNA:mutations:cds: (human)
RGD
PMID:28218421
RGD:153297765
NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228
G
Tp53
tumor protein p53
ISO
DNA:mutations:cds: (human)
RGD
PMID:28218421
RGD:153297765
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Mlh1
mutL homolog 1
ISO
ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1
OMIM ClinVar
PMID:7757073 PMID:08808596 PMID:8809606 PMID:8872463 PMID:8880570 PMID:8993979 PMID:9032648 PMID:9234704 PMID:9377556 PMID:9536098 PMID:9697702 PMID:9718327 PMID:9927033 PMID:9927034 PMID:10037723 PMID:10348818 PMID:10422993 PMID:10480359 PMID:10573010 PMID:10713887 PMID:10861474 PMID:10874307 PMID:10923051 PMID:10995807 PMID:11112663 PMID:11139242 PMID:11151427 PMID:11208710 PMID:11343035 PMID:11369138 PMID:11389087 PMID:11427529 PMID:11524701 PMID:11585727 PMID:11601928 PMID:11726306 PMID:11748856 PMID:11781295 PMID:11839723 PMID:11879922 PMID:11920458 PMID:11920650 PMID:12067992 PMID:12095971 PMID:12112654 PMID:12115348 PMID:12362047 PMID:12377806 PMID:12519945 PMID:12624141 PMID:12658575 PMID:12799449 PMID:12810663 PMID:12919137 PMID:14514376 PMID:14526391 PMID:14635101 PMID:14762794 PMID:15133479 PMID:15139004 PMID:15173238 PMID:15178966 PMID:15184898 PMID:15222003 PMID:15254659 PMID:15340264 PMID:15345113 PMID:15475387 PMID:15520370 PMID:15655560 PMID:15713769 PMID:15845562 PMID:15849733 PMID:15864295 PMID:15870828 PMID:15926618 PMID:15991306 PMID:15996210 PMID:16083711 PMID:16142001 PMID:16181381 PMID:16199547 PMID:16203774 PMID:16206289 PMID:16216036 PMID:16288214 PMID:16338176 PMID:16341550 PMID:16341804 PMID:16395668 PMID:16451135 PMID:16528606 PMID:16724012 PMID:16769400 PMID:16807412 PMID:16929514 PMID:16995940 PMID:17011982 PMID:17054581 PMID:17117178 PMID:17192056 PMID:17210669 PMID:17250665 PMID:17301300 PMID:17312306 PMID:17370310 PMID:17453009 PMID:17510385 PMID:17576681 PMID:17594722 PMID:17889038 PMID:17895478 PMID:18033691 PMID:18094436 PMID:18307539 PMID:18383312 PMID:18389388 PMID:18547406 PMID:18561205 PMID:18566915 PMID:18709565 PMID:18726168 PMID:18809606 PMID:18931482 PMID:19015241 PMID:19116412 PMID:19224586 PMID:19250818 PMID:19267393 PMID:19389263 PMID:19419416 PMID:19669161 PMID:19690142 PMID:19697156 PMID:19731080 PMID:19863800 PMID:20020535 PMID:20045164 PMID:20052760 PMID:20223024 PMID:20233461 PMID:20373145 PMID:20533529 PMID:20858721 PMID:20924129 PMID:20978114 PMID:20978117 PMID:21056691 PMID:21120944 PMID:21247423 PMID:21255554 PMID:21387278 PMID:21404117 PMID:21598002 PMID:21615986 PMID:21636617 PMID:21642682 PMID:21681552 PMID:21868491 PMID:22086678 PMID:22086679 PMID:22120844 PMID:22136435 PMID:22252508 PMID:22290698 PMID:22585170 PMID:22692065 PMID:22703879 PMID:22736432 PMID:22753075 PMID:22776989 PMID:22875147 PMID:22878509 PMID:22908213 PMID:22949379 PMID:22949387 PMID:22995991 PMID:23047549 PMID:23354017 PMID:23403630 PMID:23431106 PMID:23435383 PMID:23523604 PMID:23729658 PMID:23741719 PMID:23760103 PMID:24032978 PMID:24033266 PMID:24055113 PMID:24090359 PMID:24096645 PMID:24278394 PMID:24344984 PMID:24362816 PMID:24440087 PMID:24456667 PMID:24549055 PMID:24710284 PMID:24728327 PMID:24743384 PMID:24918944 PMID:24933000 PMID:24953332 PMID:25085752 PMID:25110875 PMID:25111426 PMID:25115387 PMID:25133505 PMID:25142776 PMID:25157968 PMID:25186627 PMID:25430799 PMID:25477341 PMID:25479140 PMID:25503501 PMID:25525159 PMID:25559809 PMID:25579085 PMID:25637381 PMID:25741868 PMID:25762362 PMID:25823662 PMID:25871441 PMID:25871621 PMID:25877891 PMID:25980754 PMID:26010451 PMID:26053027 PMID:26078562 PMID:26096739 PMID:26249686 PMID:26300997 PMID:26318770 PMID:26332594 PMID:26333163 PMID:26437257 PMID:26467025 PMID:26485756 PMID:26580448 PMID:26637282 PMID:26681312 PMID:26811195 PMID:26817999 PMID:26845104 PMID:26888055 PMID:26898890 PMID:26900293 PMID:26976419 PMID:27064304 PMID:27121310 PMID:27152634 PMID:27153395 PMID:27300552 PMID:27363726 PMID:27498913 PMID:27600092 PMID:27601186 PMID:27606285 PMID:27629256 PMID:27732944 PMID:27831900 PMID:27978560 PMID:28125075 PMID:28135145 PMID:28445943 PMID:28449805 PMID:28466842 PMID:28492532 PMID:28494185 PMID:28503720 PMID:28514183 PMID:28591715 PMID:28724667 PMID:28765196 PMID:28767289 PMID:28822769 PMID:28874130 PMID:28944238 PMID:28961279 PMID:29050249 PMID:29212164 PMID:29238914 PMID:29288294 PMID:29345684 PMID:29360550 PMID:29419868 PMID:29472279 PMID:29506128 PMID:29520894 PMID:29596542 PMID:29625052 PMID:29684080 PMID:29887214 PMID:30077346 PMID:30093976 PMID:30238922 PMID:30262796 PMID:30309722 PMID:30322717 PMID:30362666 PMID:30504929 PMID:30521064 PMID:30720243 PMID:30723297 PMID:30883245 PMID:30982232 PMID:30998989 PMID:31054147 PMID:31118792 PMID:31127692 PMID:31159747 PMID:31207149 PMID:31248605 PMID:31273885 PMID:31332305 PMID:31360874 PMID:31386297 PMID:31391288 PMID:31491536 PMID:31660093 PMID:31697235 PMID:31784484 PMID:31822864 PMID:31867841 PMID:32040686 PMID:32061754 PMID:32068069 PMID:32076465 PMID:32566746 PMID:32587781 PMID:32635641 PMID:32658311 PMID:32659497 PMID:32710294 PMID:32832836 PMID:32849802 PMID:32885271 PMID:32914570 PMID:32959997 PMID:32980694 PMID:33191490 PMID:33281875 PMID:33471991 PMID:33821390 PMID:33980423 PMID:34172528 PMID:34250417 PMID:34284872 PMID:34347074 PMID:34408140 PMID:35223509 PMID:35263119 PMID:35449176 PMID:35467778 PMID:36054288 PMID:36243179 PMID:36627197 PMID:37270516 PMID:37433431 More...
NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
G
Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1
ClinVar
PMID:6096739 PMID:8261515 PMID:8566964 PMID:8592341 PMID:9288790 PMID:9748699 PMID:10080150 PMID:10196371 PMID:10323887 PMID:10375096 PMID:10970186 PMID:10978353 PMID:11151427 PMID:11291077 PMID:11601928 PMID:11920650 PMID:12132870 PMID:12362047 PMID:12522549 PMID:12624141 PMID:12658575 PMID:14580774 PMID:15235030 PMID:15254659 PMID:15365996 PMID:15655560 PMID:15713769 PMID:15849733 PMID:15855432 PMID:15872200 PMID:16216036 PMID:16395668 PMID:16451135 PMID:16614121 PMID:16636019 PMID:16639607 PMID:16736289 PMID:16830052 PMID:16929514 PMID:16996571 PMID:17011982 PMID:17192056 PMID:17312306 PMID:17374836 PMID:17473388 PMID:17569143 PMID:17720936 PMID:18270343 PMID:18289827 PMID:18325052 PMID:18383312 PMID:18561205 PMID:18772310 PMID:18951462 PMID:19389263 PMID:19419416 PMID:19459153 PMID:19669161 PMID:19698169 PMID:19731080 PMID:20007843 PMID:20176959 PMID:21056691 PMID:21120944 PMID:21387278 PMID:21598002 PMID:21642682 PMID:21788563 PMID:21868491 PMID:21926548 PMID:22034109 PMID:22290698 PMID:22581703 PMID:22883484 PMID:22977643 PMID:23047549 PMID:23990280 PMID:24033266 PMID:24040339 PMID:24326041 PMID:24344984 PMID:24362816 PMID:24415873 PMID:24474082 PMID:24506336 PMID:24549055 PMID:24763289 PMID:24851142 PMID:24933000 PMID:25085752 PMID:25093288 PMID:25110875 PMID:25117503 PMID:25133505 PMID:25186627 PMID:25194673 PMID:25430799 PMID:25525159 PMID:25569433 PMID:25637381 PMID:25648859 PMID:25741868 PMID:26094658 PMID:26096739 PMID:26250988 PMID:26332594 PMID:26333163 PMID:26437257 PMID:26467025 PMID:26552419 PMID:26580448 PMID:26681312 PMID:26845104 PMID:26878173 PMID:26951660 PMID:27328445 PMID:27601186 PMID:27606285 PMID:27629256 PMID:27863258 PMID:28135145 PMID:28195393 PMID:28202063 PMID:28449805 PMID:28492532 PMID:28640387 PMID:28767289 PMID:28828701 PMID:28874130 PMID:28929227 PMID:28944238 PMID:29025352 PMID:29302048 PMID:29458332 PMID:29489754 PMID:29575718 PMID:29731845 PMID:29887214 PMID:29889250 PMID:29967336 PMID:30093976 PMID:30131383 PMID:30238922 PMID:30262796 PMID:30267214 PMID:30274973 PMID:30306255 PMID:30521064 PMID:30740824 PMID:30998989 PMID:31054147 PMID:31159747 PMID:31162827 PMID:31237724 PMID:31297992 PMID:31391288 PMID:31491536 PMID:31569399 PMID:31615790 PMID:31660093 PMID:31742824 PMID:31857677 PMID:32075053 PMID:32338768 PMID:32522261 PMID:32658311 PMID:32659497 PMID:32719484 PMID:32832836 PMID:33357406 PMID:33422027 PMID:33471991 PMID:33484353 PMID:33606809 PMID:33630411 PMID:33848333 PMID:34326862 PMID:34347074 PMID:34371384 PMID:34426522 PMID:34761457 PMID:35245693 PMID:35264596 PMID:36073783 PMID:36672847 PMID:36845387 PMID:36988593 More...
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
G
Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1
ClinVar
PMID:10508506 PMID:10537275 PMID:10612827 PMID:11470537 PMID:11807791 PMID:12019211 PMID:14520694 PMID:15483016 PMID:15782118 PMID:15872200 PMID:16000562 PMID:16199547 PMID:16283678 PMID:16408224 PMID:16636019 PMID:16813607 PMID:16885385 PMID:17531815 PMID:17557300 PMID:17594722 PMID:17909073 PMID:18269114 PMID:18301448 PMID:18566915 PMID:19389263 PMID:19924528 PMID:20028993 PMID:20301390 PMID:20379851 PMID:20487569 PMID:20531397 PMID:20937110 PMID:21120944 PMID:22006311 PMID:22081473 PMID:22102614 PMID:22290698 PMID:22495361 PMID:22703879 PMID:22851212 PMID:23047549 PMID:23359684 PMID:23621914 PMID:23652311 PMID:23729658 PMID:23733757 PMID:24033266 PMID:24040339 PMID:24100870 PMID:24323032 PMID:24362816 PMID:24440087 PMID:24448499 PMID:24728189 PMID:24728327 PMID:25085752 PMID:25186627 PMID:25231023 PMID:25318681 PMID:25430799 PMID:25479140 PMID:25525159 PMID:25637381 PMID:25642631 PMID:25741868 PMID:25892863 PMID:25980754 PMID:26206375 PMID:26333163 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26530882 PMID:26552419 PMID:26689913 PMID:26845104 PMID:26898890 PMID:27363726 PMID:27398995 PMID:27487738 PMID:28125075 PMID:28135145 PMID:28206961 PMID:28323777 PMID:28466842 PMID:28492532 PMID:28514183 PMID:28528517 PMID:28528518 PMID:28531214 PMID:28640387 PMID:28767289 PMID:28873162 PMID:28888541 PMID:28944238 PMID:29212164 PMID:29345684 PMID:29348823 PMID:29360161 PMID:29368341 PMID:29489754 PMID:29596542 PMID:29684080 PMID:29717530 PMID:29755653 PMID:29887214 PMID:29967336 PMID:30067863 PMID:30072391 PMID:30093976 PMID:30267214 PMID:30322717 PMID:30324682 PMID:30702970 PMID:30787465 PMID:30982232 PMID:31054147 PMID:31100584 PMID:31159747 PMID:31204389 PMID:31307542 PMID:31360874 PMID:31391288 PMID:31422818 PMID:31447099 PMID:31658756 PMID:31666926 PMID:31742824 PMID:31882575 PMID:31965077 PMID:32068069 PMID:32547938 PMID:32658311 PMID:32719484 PMID:32773772 PMID:32832836 PMID:32980694 PMID:33294277 PMID:33422027 PMID:33471991 PMID:33563768 PMID:34088725 PMID:34178123 PMID:34426522 PMID:34445333 PMID:35449176 PMID:35904628 PMID:36243179 PMID:36988593 More...
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
G
Pms2
PMS1 homolog 2, mismatch repair system component
ISO
ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1
ClinVar
PMID:2440087 PMID:6144131 PMID:7628019 PMID:7629132 PMID:7632227 PMID:7661930 PMID:9488480 PMID:9536098 PMID:9683794 PMID:10037723 PMID:11574484 PMID:12714694 PMID:14756672 PMID:15077197 PMID:15256438 PMID:15845562 PMID:15872200 PMID:15887099 PMID:15955779 PMID:16144131 PMID:16283678 PMID:16338176 PMID:16426742 PMID:16472587 PMID:16507833 PMID:16609022 PMID:16619239 PMID:17016615 PMID:17557300 PMID:17576681 PMID:18007577 PMID:18273873 PMID:18602922 PMID:18824584 PMID:19092773 PMID:19132747 PMID:19156169 PMID:19283792 PMID:19495563 PMID:20186688 PMID:20186689 PMID:20205264 PMID:20487569 PMID:20531397 PMID:20533529 PMID:20581245 PMID:21204794 PMID:21239990 PMID:21261604 PMID:21356188 PMID:21376568 PMID:21618646 PMID:22081473 PMID:22120844 PMID:22290698 PMID:22577899 PMID:22658618 PMID:22703879 PMID:22848017 PMID:22918162 PMID:22949387 PMID:23012243 PMID:23435383 PMID:23629955 PMID:23652311 PMID:23709753 PMID:23837913 PMID:24027009 PMID:24033266 PMID:24055113 PMID:24072394 PMID:24326041 PMID:24362816 PMID:24434690 PMID:24556621 PMID:24689082 PMID:24710284 PMID:24728189 PMID:24728327 PMID:24897087 PMID:25117502 PMID:25186627 PMID:25194673 PMID:25326637 PMID:25345868 PMID:25430799 PMID:25477341 PMID:25512458 PMID:25525159 PMID:25559809 PMID:25567908 PMID:25637381 PMID:25741868 PMID:25850602 PMID:25856668 PMID:25871621 PMID:25980754 PMID:26110232 PMID:26116798 PMID:26232782 PMID:26247049 PMID:26270727 PMID:26272126 PMID:26318770 PMID:26333163 PMID:26467025 PMID:26483394 PMID:26517685 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26691941 PMID:26720728 PMID:26798439 PMID:26845104 PMID:26895986 PMID:26898890 PMID:26976419 PMID:27017610 PMID:27037742 PMID:27050224 PMID:27060149 PMID:27060170 PMID:27064304 PMID:27273229 PMID:27356891 PMID:27433846 PMID:27435373 PMID:27449771 PMID:27476653 PMID:27535533 PMID:27589204 PMID:27601186 PMID:27806231 PMID:27863258 PMID:27878467 PMID:27930734 PMID:27978560 PMID:27997549 PMID:28007021 PMID:28125078 PMID:28135145 PMID:28152038 PMID:28218421 PMID:28365877 PMID:28449805 PMID:28466842 PMID:28491141 PMID:28492532 PMID:28503720 PMID:28503822 PMID:28514183 PMID:28528518 PMID:28562508 PMID:28596308 PMID:28724667 PMID:28726808 PMID:28805995 PMID:28873162 PMID:28874130 PMID:29489754 PMID:29570743 PMID:29625052 PMID:29684080 PMID:29785153 PMID:29875428 PMID:29887214 PMID:29967336 PMID:30013564 PMID:30039884 PMID:30077346 PMID:30093976 PMID:30113427 PMID:30122538 PMID:30155321 PMID:30256826 PMID:30322717 PMID:30374176 PMID:30376427 PMID:30447919 PMID:30521064 PMID:30608896 PMID:30612635 PMID:30613976 PMID:30680046 PMID:30702970 PMID:30760869 PMID:30764633 PMID:30787465 PMID:31056861 PMID:31159747 PMID:31327751 PMID:31391288 PMID:31410062 PMID:31422574 PMID:31433215 PMID:31447099 PMID:31465090 PMID:31507588 PMID:31589614 PMID:31599855 PMID:31857677 PMID:31883735 PMID:31921681 PMID:31942411 PMID:31948886 PMID:31992580 PMID:32012241 PMID:32039725 PMID:32060697 PMID:32459922 PMID:32571878 PMID:32634176 PMID:32642664 PMID:32658311 PMID:32719484 PMID:32773772 PMID:32775946 PMID:32832836 PMID:32885271 PMID:32959997 PMID:33087929 PMID:33120919 PMID:33258288 PMID:33259954 PMID:33471991 PMID:33504652 PMID:33693762 PMID:33753322 PMID:34048176 PMID:34271781 PMID:34284872 PMID:34285288 PMID:34326862 PMID:34371384 PMID:34680242 PMID:35089076 PMID:35263119 PMID:35264596 PMID:35372080 PMID:35402282 PMID:35430768 PMID:35449176 PMID:35451539 PMID:35475445 PMID:35535697 PMID:35886069 PMID:36360190 PMID:36988593 PMID:37536918 More...
NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
G
Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Mismatch repair cancer syndrome 2
OMIM ClinVar
PMID:8521394 PMID:9718327 PMID:10190329 PMID:10196371 PMID:10874307 PMID:11809679 PMID:11920650 PMID:12549480 PMID:12624141 PMID:12658575 PMID:15235030 PMID:15713769 PMID:15849733 PMID:15855432 PMID:16372347 PMID:16639607 PMID:16807412 PMID:18033691 PMID:18781192 PMID:19459153 PMID:19698169 PMID:21642682 PMID:21837758 PMID:21868491 PMID:22883484 PMID:23047549 PMID:24033266 PMID:24090359 PMID:24362816 PMID:25117503 PMID:25370038 PMID:25430799 PMID:25479140 PMID:25559809 PMID:25569433 PMID:25637381 PMID:25639900 PMID:25648859 PMID:25673086 PMID:25741868 PMID:26270727 PMID:26467025 PMID:26681312 PMID:28492532 PMID:28767289 PMID:28874130 PMID:28944238 PMID:29706558 PMID:29887214 PMID:29967336 PMID:30267214 PMID:30322717 PMID:31054147 PMID:31857677 PMID:32338768 PMID:32659497 PMID:32809219 PMID:32832836 PMID:33357406 PMID:33471991 PMID:33848333 PMID:34250417 PMID:34326862 PMID:36073783 PMID:36451132 PMID:36988593 More...
NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
G
Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Mismatch repair cancer syndrome 3
OMIM ClinVar
PMID:2059188 PMID:5559809 PMID:9307272 PMID:9929971 PMID:10471527 PMID:10507723 PMID:10508506 PMID:10521294 PMID:10537275 PMID:10699937 PMID:11153917 PMID:11586295 PMID:11709755 PMID:12537658 PMID:12658575 PMID:12732731 PMID:14520694 PMID:14585961 PMID:14871975 PMID:14974087 PMID:15098177 PMID:15184898 PMID:15236168 PMID:15340263 PMID:15340264 PMID:15365995 PMID:15483016 PMID:15805151 PMID:15837969 PMID:16010685 PMID:16034045 PMID:16203774 PMID:16237223 PMID:16270383 PMID:16283678 PMID:16283884 PMID:16341805 PMID:16418736 PMID:16807412 PMID:16885385 PMID:16940983 PMID:17082796 PMID:17117178 PMID:17259933 PMID:17417778 PMID:17453009 PMID:17557300 PMID:17661183 PMID:17909073 PMID:18033691 PMID:18236172 PMID:18269114 PMID:18301448 PMID:18409202 PMID:18415027 PMID:18566915 PMID:18625694 PMID:18709565 PMID:18790734 PMID:18809606 PMID:19250818 PMID:19459153 PMID:19526325 PMID:19723918 PMID:19851887 PMID:19924528 PMID:20007843 PMID:20028993 PMID:20045164 PMID:20149637 PMID:20176959 PMID:20301390 PMID:20487569 PMID:20531397 PMID:20587412 PMID:20591884 PMID:20682701 PMID:21056691 PMID:21155762 PMID:21642682 PMID:21674763 PMID:22006311 PMID:22081473 PMID:22102614 PMID:22290698 PMID:22480969 PMID:22495361 PMID:22581703 PMID:22703879 PMID:22734033 PMID:22810696 PMID:22949387 PMID:23047549 PMID:23263490 PMID:23621914 PMID:23652311 PMID:23757202 PMID:24033266 PMID:24055113 PMID:24068316 PMID:24100870 PMID:24362816 PMID:24689082 PMID:24728189 PMID:24728327 PMID:24989436 PMID:25006859 PMID:25085752 PMID:25110875 PMID:25117503 PMID:25186627 PMID:25194673 PMID:25318681 PMID:25525159 PMID:25559809 PMID:25637381 PMID:25741868 PMID:25782445 PMID:25980754 PMID:25985138 PMID:26318770 PMID:26467025 PMID:26483394 PMID:26552419 PMID:26681312 PMID:26720728 PMID:26787237 PMID:26845104 PMID:27028851 PMID:27064304 PMID:27153395 PMID:27273229 PMID:27329137 PMID:27363726 PMID:27372833 PMID:27380347 PMID:27433846 PMID:27443514 PMID:27456091 PMID:27601186 PMID:27854360 PMID:27863258 PMID:28125075 PMID:28135145 PMID:28176205 PMID:28195393 PMID:28323777 PMID:28423363 PMID:28466842 PMID:28481244 PMID:28491141 PMID:28492532 PMID:28502729 PMID:28514183 PMID:28523262 PMID:28531214 PMID:28591191 PMID:28724667 PMID:28888541 PMID:28944238 PMID:29212164 PMID:29345684 PMID:29348823 PMID:29371908 PMID:29442399 PMID:29489754 PMID:29684080 PMID:29717530 PMID:29922827 PMID:29945567 PMID:29978187 PMID:30013564 PMID:30093976 PMID:30147880 PMID:30322717 PMID:30337059 PMID:30387329 PMID:30521064 PMID:30670635 PMID:30729418 PMID:30730459 PMID:30787465 PMID:31054147 PMID:31297992 PMID:31391288 PMID:31447099 PMID:31501241 PMID:31570381 PMID:31666926 PMID:31783044 PMID:31845022 PMID:31857677 PMID:31921681 PMID:31965077 PMID:31970404 PMID:31997046 PMID:32008151 PMID:32029870 PMID:32042422 PMID:32060697 PMID:32068069 PMID:32081490 PMID:32141610 PMID:32242007 PMID:32449172 PMID:32566746 PMID:32658311 PMID:32660107 PMID:32719484 PMID:32773772 PMID:32775946 PMID:32809219 PMID:32832836 PMID:32941469 PMID:32980694 PMID:33087929 PMID:33471991 PMID:34088725 PMID:34178123 PMID:34371384 PMID:34425783 PMID:34519692 PMID:36988593 More...
NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
G
Pms2
PMS1 homolog 2, mismatch repair system component
ISO
ClinVar Annotator: match by term: Mismatch repair cancer syndrome 4 | ClinVar Annotator: match by term: PMS2-related condition
OMIM ClinVar
PMID:2440087 PMID:7628019 PMID:7629132 PMID:7632227 PMID:7661930 PMID:8993976 PMID:9488480 PMID:10037723 PMID:10763829 PMID:12714694 PMID:12900794 PMID:14574005 PMID:14756672 PMID:15077197 PMID:15256438 PMID:15470502 PMID:15845562 PMID:16144131 PMID:16199547 PMID:16426742 PMID:16472587 PMID:16507833 PMID:16619239 PMID:17016615 PMID:17557300 PMID:18030674 PMID:18268114 PMID:18273873 PMID:18602922 PMID:18768816 PMID:18824584 PMID:19092773 PMID:19132747 PMID:19156169 PMID:19293170 PMID:19479271 PMID:19495563 PMID:19690142 PMID:20186688 PMID:20186689 PMID:20205264 PMID:20487569 PMID:20531397 PMID:20581245 PMID:21204794 PMID:21239990 PMID:21261604 PMID:21356188 PMID:21376568 PMID:21618646 PMID:22290698 PMID:22577899 PMID:22675565 PMID:22703879 PMID:22949379 PMID:22949387 PMID:23012243 PMID:23017166 PMID:23435383 PMID:23709753 PMID:24027009 PMID:24033266 PMID:24055113 PMID:24326041 PMID:24362816 PMID:24440087 PMID:24549055 PMID:24728327 PMID:24897087 PMID:25142776 PMID:25186627 PMID:25194673 PMID:25318351 PMID:25345868 PMID:25503501 PMID:25512458 PMID:25525159 PMID:25559809 PMID:25637381 PMID:25648859 PMID:25691505 PMID:25741868 PMID:25850602 PMID:25856668 PMID:25871621 PMID:25938944 PMID:25980754 PMID:26110232 PMID:26116798 PMID:26202870 PMID:26232782 PMID:26247049 PMID:26270727 PMID:26318770 PMID:26437257 PMID:26467025 PMID:26552419 PMID:26556299 PMID:26580448 PMID:26681312 PMID:26689913 PMID:26720728 PMID:26845104 PMID:26895986 PMID:26976419 PMID:27064304 PMID:27146957 PMID:27153395 PMID:27273229 PMID:27433846 PMID:27435373 PMID:27443514 PMID:27476653 PMID:27498913 PMID:27806231 PMID:27863258 PMID:27930734 PMID:27978560 PMID:28050010 PMID:28051113 PMID:28125078 PMID:28135145 PMID:28152038 PMID:28166811 PMID:28195393 PMID:28449805 PMID:28466842 PMID:28491141 PMID:28492532 PMID:28503720 PMID:28514183 PMID:28528518 PMID:28591191 PMID:28596308 PMID:28805995 PMID:28873162 PMID:28874130 PMID:28975465 PMID:29300386 PMID:29470806 PMID:29667044 PMID:29684080 PMID:29785153 PMID:29875428 PMID:29887214 PMID:29945567 PMID:30013564 PMID:30039884 PMID:30093976 PMID:30256826 PMID:30306255 PMID:30322717 PMID:30374176 PMID:30521064 PMID:30608896 PMID:30612635 PMID:30651582 PMID:30653781 PMID:30680046 PMID:30702970 PMID:30729418 PMID:30764633 PMID:30787465 PMID:31101557 PMID:31118792 PMID:31159747 PMID:31332305 PMID:31386297 PMID:31391288 PMID:31422574 PMID:31433215 PMID:31447099 PMID:31589614 PMID:31857677 PMID:31948886 PMID:31992580 PMID:32039725 PMID:32060697 PMID:32459922 PMID:32547938 PMID:32566746 PMID:32571878 PMID:32620519 PMID:32634176 PMID:32642664 PMID:32658311 PMID:32719484 PMID:32773772 PMID:32775946 PMID:32832836 PMID:32885271 PMID:32959997 PMID:32980694 PMID:33087929 PMID:33193653 PMID:33258288 PMID:33471991 PMID:33504652 PMID:33535600 PMID:33606809 PMID:33693762 PMID:33821390 PMID:33850299 PMID:34048176 PMID:34284872 PMID:34308366 PMID:34326862 PMID:34350294 PMID:34371384 PMID:34489406 PMID:35002543 PMID:35189042 PMID:35264596 PMID:35449176 PMID:35451539 PMID:35535697 PMID:36165864 PMID:36200007 PMID:36243179 PMID:36360190 PMID:36586540 PMID:36627197 PMID:36715493 PMID:36988593 More...
NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
G
Rtel1
regulator of telomere elongation helicase 1
susceptibility
ISO
DNA:SNPs:multiple:multiple (human)
RGD
PMID:30462709
RGD:152977767
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
G
Zdbf2
zinc finger, DBF-type containing 2
ISO
ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome
ClinVar
PMID:23636874 PMID:27139419
NCBI chr 9:64,672,974...64,748,446
Ensembl chr 9:64,709,880...64,744,265
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25240281
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
G
Eed
embryonic ectoderm development
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25240281
NCBI chr 1:143,867,875...143,895,008
Ensembl chr 1:143,867,875...143,894,974
G
Foxr2
forkhead box R2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23685747
NCBI chr X:18,242,420...18,276,095
Ensembl chr X:18,244,255...18,245,163
G
Hgf
hepatocyte growth factor
ISO
protein:increased expression: :
RGD
PMID:9308731
RGD:2317564
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Met
MET proto-oncogene, receptor tyrosine kinase
disease_progression
ISO
protein:increased expression:tumor (human)
RGD
PMID:9308731
RGD:2317564
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
G
Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20176786 PMID:25240281
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
G
Pten
phosphatase and tensin homolog
disease_progression
ISO
RGD
PMID:22700876
RGD:12859040
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25240281 PMID:25305755
NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
G
Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20176786
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
G
Atad5
ATPase family, AAA domain containing 5
ISO
mRNA:increased expression:neural tissue (human)
RGD
PMID:20844836
RGD:11552594
NCBI chr10:65,070,682...65,118,489
Ensembl chr10:65,070,689...65,117,845
G
Axl
Axl receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25551830
NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
G
Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
DNA,protein:deletion,decreased expression: :
RGD
PMID:10595918
RGD:1358481
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
G
Eed
embryonic ectoderm development
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr 1:143,867,875...143,895,008
Ensembl chr 1:143,867,875...143,894,974
G
Kdr
kinase insert domain receptor
ISO
mRNA:decreased expression:brain:
RGD
PMID:17570036
RGD:8552334
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Lztr1
leucine zipper like post translational regulator 1
ISO
DNA:missense mutation:cds,multiple (human)
RGD
PMID:24362817
RGD:151676717
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
G
Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
G
Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
DNA:loss of heterozygosity
RGD
PMID:7669741
RGD:150530508
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
G
Pecam1
platelet and endothelial cell adhesion molecule 1
severity
ISO
protein:increased expression:tumor (human)
RGD
PMID:22555941
RGD:6771228
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
G
Serpine1
serpin family E member 1
ISO
mRNA,protein:increased expression:schwann cell
RGD
PMID:14963743
RGD:13208544
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Six1
SIX homeobox 1
ISO
mRNA:increased expression:Schwann cell (human)
RGD
PMID:19901965
RGD:11561959
NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
G
Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
ClinVar Annotator: match by term: Schwannoma
ClinVar
PMID:18647326 PMID:22434358 PMID:22949514 PMID:24933152 PMID:25631985 PMID:25741868 PMID:28492532 PMID:29517885 PMID:34747535 More...
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
G
Snca
synuclein alpha
IEP
protein:increased expression:cytoplasm
RGD
PMID:11810180
RGD:6218996
NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262
G
Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
G
Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25474318
NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643
G
Abcb1a
ATP binding cassette subfamily B member 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8761367
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
G
Alk
ALK receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma Susceptibility
CTD ClinVar
PMID:2124297 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:18990089 PMID:20576349 PMID:21030459 PMID:21242967 PMID:21575866 PMID:21804922 PMID:21823617 PMID:21838707 PMID:21859094 PMID:21948233 PMID:21972109 PMID:22071890 PMID:22072639 PMID:22277784 PMID:22286764 PMID:22588779 PMID:22789543 PMID:22920921 PMID:22932897 PMID:22968692 PMID:23104988 PMID:23334666 PMID:24205241 PMID:24327273 PMID:24675991 PMID:25517749 PMID:25741868 PMID:26619011 PMID:26829053 PMID:27132509 PMID:28492532 PMID:28873162 PMID:29489754 PMID:30004444 PMID:30350464 PMID:30605844 More...
NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
G
Alox5ap
arachidonate 5-lipoxygenase activating protein
ISO
mRNA, protein:increased expression:neuroblastoma (human)
RGD
PMID:18591367
RGD:2313903
NCBI chr12:5,748,941...5,772,986
Ensembl chr12:5,748,944...5,772,986
G
Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism DNA:mutations,loss of heterozygosity: :
CTD RGD
PMID:23202128 PMID:23202128
RGD:13439724
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Arid1b
AT-rich interaction domain 1B
ISO
CTD Direct Evidence: marker/mechanism DNA:deletion,haploinsufficiency: :
CTD RGD
PMID:23202128 PMID:23202128
RGD:13439724
NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
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Atrx
ATRX, chromatin remodeler
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334666 PMID:26523776
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Aurka
aurora kinase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22588779
NCBI chr 3:161,128,309...161,144,524
Ensembl chr 3:161,128,313...161,144,390
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Bard1
BRCA1 associated RING domain 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19412175 PMID:23334666
NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2317787
NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
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Birc2
baculoviral IAP repeat-containing 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 8:4,968,856...4,989,325
Ensembl chr 8:4,968,842...4,988,732
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Birc3
baculoviral IAP repeat-containing 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:16284991 PMID:19043619 PMID:20127978 PMID:21702907 PMID:22034289 PMID:22711857 PMID:24163242 PMID:25741868 PMID:26467025 PMID:26822237 PMID:28492532 PMID:29884841 PMID:30287823 PMID:31112341 PMID:31131967 PMID:31294896 PMID:31911673 PMID:33428613 PMID:33471991 PMID:33609447 More...
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Cd44
CD44 molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 3:89,155,850...89,244,615
Ensembl chr 3:89,157,058...89,244,620
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Cd55
CD55 molecule (Cromer blood group)
IMP
RGD
PMID:10850450
RGD:2326181
NCBI chr13:41,857,242...41,885,966
Ensembl chr13:41,857,395...41,885,831
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
treatment
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15814359 PMID:24714808
RGD:10043806
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Chaf1a
chromatin assembly factor 1 subunit A
disease_progression
ISO
mRNA:increased expression: :
RGD
PMID:24335960 PMID:24335960
RGD:9587458 , RGD:9587458
NCBI chr 9:873,953...900,701
Ensembl chr 9:874,051...900,654
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Chd5
chromodomain helicase DNA binding protein 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 5:162,848,273...162,898,997
Ensembl chr 5:162,848,394...162,896,291
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Chd6
chromodomain helicase DNA binding protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18577749
NCBI chr 3:149,596,509...149,757,765
Ensembl chr 3:149,596,509...149,757,755
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Chek2
checkpoint kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23334666
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Dbh
dopamine beta-hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25174395
NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
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Dock8
dedicator of cytokinesis 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 1:222,649,309...222,842,474
Ensembl chr 1:222,649,309...222,842,474
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Esr1
estrogen receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27366082
NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002
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Fanca
FA complementation group A
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 PMID:27041517 PMID:28060124 PMID:28492532 PMID:29098742 More...
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 More...
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Gata3
GATA binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20862257
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Hace1
HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941191
NCBI chr20:49,035,312...49,151,103
Ensembl chr20:49,035,648...49,151,103
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Hand2
heart and neural crest derivatives expressed 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr16:32,917,448...32,920,791
Ensembl chr16:32,917,823...32,919,891
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Hgf
hepatocyte growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16051641
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15814359 PMID:26121086
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Ifnb1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16115947
NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523
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Igf1r
insulin-like growth factor 1 receptor
ISO
protein: decreased tyrosine phosphorylation: : Y1131
RGD
PMID:17121898
RGD:7242922
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Igf2bp1
insulin-like growth factor 2 mRNA binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:37246217
NCBI chr10:80,908,300...80,951,097
Ensembl chr10:80,908,076...80,951,129
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Il18
interleukin 18
susceptibility
ISO
RGD
PMID:16428511
RGD:8655920
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il1b
interleukin 1 beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
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Isl1
ISL LIM homeobox 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584
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Kif1b
kinesin family member 1B
ISO
ClinVar Annotator: match by term: Neuroblastoma | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 1 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:18334619 PMID:24033266 PMID:24469107 PMID:24694336 PMID:25741868 PMID:28492532 PMID:30126838 PMID:30487145 PMID:32376792 PMID:33362715 More...
NCBI chr 5:159,607,697...159,742,778
Ensembl chr 5:159,561,271...159,742,778
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Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 4:178,185,418...178,218,484
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Lin28b
lin-28 homolog B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22941191 PMID:23042116
NCBI chr20:48,865,329...48,964,769
Ensembl chr20:48,869,485...48,955,077
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Map2k4
mitogen activated protein kinase kinase 4
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr10:50,343,227...50,447,956
Ensembl chr10:50,344,915...50,447,993
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Map2k7
mitogen activated protein kinase kinase 7
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr12:2,591,312...2,600,534
Ensembl chr12:2,591,219...2,604,222
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Men1
menin 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:16051641 PMID:26822237
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
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Mmp9
matrix metallopeptidase 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Mt-co2
mitochondrially encoded cytochrome c oxidase II
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15492235
NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
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Mtfp1
mitochondrial fission process 1
severity
ISO
mRNA:increased expression:neural tissue (human)
RGD
PMID:27765905
RGD:12880392
NCBI chr14:78,968,434...78,972,274
Ensembl chr14:78,968,442...78,972,274
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Myb
MYB proto-oncogene, transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 1:15,939,771...15,973,367
Ensembl chr 1:15,939,761...15,973,057
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Neuroblastoma CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:8761367 PMID:25157968 PMID:26619011 PMID:34626302
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Mycn
MYCN proto-oncogene, bHLH transcription factor
ISO
ClinVar Annotator: match by term: Neuroblastoma CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:16051641 PMID:16989911 PMID:17283129 PMID:18353067 PMID:22286764 PMID:22789543 PMID:23042116 PMID:23334666 PMID:23500671 PMID:25174395 PMID:26523776 PMID:26619011 PMID:26733615 PMID:29379199 PMID:30127528 PMID:37246217 More...
NCBI chr 6:35,717,764...35,723,590
Ensembl chr 6:35,717,764...35,723,590
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Nme1
NME/NM23 nucleoside diphosphate kinase 1
ISO
RGD
PMID:8047138
RGD:1600229
NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408
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Nnat
neuronatin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17762496
NCBI chr 3:146,225,941...146,228,868
Ensembl chr 3:146,226,407...146,228,834
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Nodal
nodal growth differentiation factor
ISO
mRNA:increased expression:neural tissue (human)
RGD
PMID:30985990
RGD:155226876
NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837
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Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:2674680 PMID:8120410 PMID:10821536 PMID:12460918 PMID:15899789 PMID:16273091 PMID:16291983 PMID:17699718 PMID:18390968 PMID:18633438 PMID:18668139 PMID:18948947 PMID:19657110 PMID:19966803 PMID:20130576 PMID:20179705 PMID:20619739 PMID:20736745 PMID:21107323 PMID:21305640 PMID:21729679 PMID:21829508 PMID:22718121 PMID:22761467 PMID:23334666 PMID:23392294 PMID:23400451 PMID:23414587 PMID:23515407 PMID:23538902 PMID:23569304 PMID:23614898 PMID:24148783 PMID:24671188 PMID:25348872 PMID:25695684 PMID:25741868 PMID:26619011 PMID:26821351 PMID:27050078 PMID:28492532 PMID:28780248 More...
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Nsd1
nuclear receptor binding SET domain protein 1
severity
ISO
DNA:hypermethylation:promoter:CpG islands (human)
RGD
PMID:20018718
RGD:9590155
NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Nt5e
5' nucleotidase, ecto
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:34773529
NCBI chr 8:89,271,046...89,314,918
Ensembl chr 8:89,270,696...89,314,881
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Ntrk1
neurotrophic receptor tyrosine kinase 1
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16989911 PMID:8433391
RGD:5684545
NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:16051641 PMID:26822237
NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136
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Pak4
p21 (RAC1) activated kinase 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29048629
NCBI chr 1:83,849,904...83,889,188
Ensembl chr 1:83,849,904...83,859,413
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Pecam1
platelet and endothelial cell adhesion molecule 1
ISO
human tumor in mouse model
RGD
PMID:22174364
RGD:6767296
NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116
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Phf6
PHD finger protein 6
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr X:132,656,658...132,699,720
Ensembl chr X:132,656,672...132,699,127
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Phox2b
paired-like homeobox 2b
exacerbates
ISO
ClinVar Annotator: match by term: Neuroblastoma human cell line in a mouse model CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:25174395 PMID:30127528 PMID:26840262
RGD:151667442
NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:17376864 PMID:18074223 PMID:20581867 PMID:25741868 PMID:26619011 PMID:28492532 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Pink1
PTEN induced kinase 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:23334666 PMID:25741868
NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
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Pramex1
PRAME like, X-linked 1
severity
ISO
mRNA:increased expression:neural tissue (human)
RGD
PMID:15240516
RGD:11535044
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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Psmd14
proteasome 26S subunit, non-ATPase 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30871063
NCBI chr 3:46,254,338...46,347,076
Ensembl chr 3:46,254,330...46,347,076
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:11704759 PMID:12161469 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:18759865 PMID:19047918 PMID:19179468 PMID:19509418 PMID:19798502 PMID:21901340 PMID:21930766 PMID:22190897 PMID:23334666 PMID:23756559 PMID:23825065 PMID:23832011 PMID:24033266 PMID:25097206 PMID:25395418 PMID:25741868 PMID:26619011 PMID:26783207 PMID:26918529 PMID:27069254 PMID:27276561 PMID:27783593 PMID:28074573 PMID:28098151 PMID:28492532 PMID:30868567 PMID:30896080 PMID:32561839 PMID:36349709 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Ptpn14
protein tyrosine phosphatase, non-receptor type 14
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr13:101,268,258...101,420,508
Ensembl chr13:101,268,416...101,414,088
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Rassf1
Ras association domain family member 1
ISO
RGD
PMID:17325427 PMID:12222680
RGD:2291979 , RGD:2291977
NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
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Rassf5
Ras association domain family member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18452173
NCBI chr13:42,637,513...42,703,024
Ensembl chr13:42,637,549...42,703,024
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Rbm15
RNA binding motif protein 15
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr 2:194,945,974...194,954,498
Ensembl chr 2:194,945,974...194,954,703
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Rela
RELA proto-oncogene, NF-kB subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr 1:202,925,001...202,935,484
Ensembl chr 1:202,924,945...202,935,484
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Scnn1a
sodium channel epithelial 1 subunit alpha
disease_progression
ISO
Low levels of methylation correlate with improved survival
RGD
PMID:21314941
RGD:5509791
NCBI chr 4:158,122,962...158,146,184
Ensembl chr 4:158,122,962...158,146,181
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Sdhc
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:21979946 PMID:25741868 PMID:28492532
NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
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Sema3b
semaphorin 3B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17452250
NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919
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Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
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Snrpe
small nuclear ribonucleoprotein polypeptide E
severity
ISO
mRNA:decreased expression:neuroblastoma (human)
RGD
PMID:17075126
RGD:10755762
NCBI chr13:45,050,986...45,057,231
Ensembl chr13:45,050,986...45,057,310 Ensembl chr 8:45,050,986...45,057,310
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Tbx2
T-box transcription factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30127528
NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26523776
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Th
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25174395
NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34626302
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Tnfsf10
TNF superfamily member 10
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16820965
NCBI chr 2:110,199,835...110,227,239
Ensembl chr 2:110,207,916...110,225,135
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroblastoma
CTD ClinVar
PMID:7651740 PMID:9546439 PMID:10064694 PMID:10864200 PMID:11896595 PMID:12826609 PMID:15814359 PMID:15925506 PMID:17390010 PMID:17572079 PMID:19850740 PMID:20407015 PMID:21305319 PMID:21343334 PMID:23894400 PMID:25293557 PMID:25741868 PMID:26619011 PMID:27493922 PMID:28492532 PMID:29979965 PMID:30224644 PMID:34026625 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tp73
tumor protein p73
no_association
ISO
RGD
PMID:9288759
RGD:1599583
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:25741868
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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Tsc2
TSC complex subunit 2
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:26822237
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Yap1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26121086
NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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Zfp276
zinc finger protein (C2H2 type) 276
ISO
ClinVar Annotator: match by term: Neuroblastoma
ClinVar
PMID:9536098 PMID:15059067 PMID:17576681 PMID:24584348 PMID:25741868 PMID:27041517 PMID:28060124 PMID:28492532 PMID:29098742 More...
NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
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Phox2b
paired-like homeobox 2b
ISO
ClinVar Annotator: match by term: Neuroblastoma 2 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 2
ClinVar OMIM
PMID:12640453 PMID:15024693 PMID:15121777 PMID:15338462 PMID:15657873 PMID:15949893 PMID:16199547 PMID:16249188 PMID:16443855 PMID:16691592 PMID:16763219 PMID:16830328 PMID:17637745 PMID:17765533 PMID:18079495 PMID:19011468 PMID:19058226 PMID:20208042 PMID:23754957 PMID:23873030 PMID:24033266 PMID:24728327 PMID:25156769 PMID:25741868 PMID:27013732 PMID:27153395 PMID:28371199 PMID:28492532 PMID:28873162 PMID:29641532 PMID:33958749 More...
NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
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Alk
ALK receptor tyrosine kinase
susceptibility
ISO
ClinVar Annotator: match by term: ALK-related condition | ClinVar Annotator: match by term: Neuroblastoma 3 | ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
OMIM ClinVar
PMID:2124297 PMID:9536098 PMID:15517393 PMID:16199547 PMID:16880530 PMID:17576681 PMID:18724359 PMID:18923523 PMID:18923524 PMID:18923525 PMID:18990089 PMID:21030459 PMID:21242967 PMID:21575866 PMID:21637378 PMID:21804922 PMID:21838707 PMID:21948233 PMID:21972109 PMID:22071890 PMID:22072639 PMID:22086496 PMID:22277784 PMID:22932897 PMID:23104988 PMID:23334666 PMID:23555315 PMID:24033266 PMID:24129244 PMID:24205241 PMID:24326041 PMID:24327273 PMID:24675991 PMID:24728327 PMID:25054154 PMID:25517749 PMID:25589003 PMID:25640679 PMID:25714698 PMID:25741868 PMID:25801821 PMID:25874976 PMID:25979929 PMID:26002608 PMID:26554404 PMID:26580448 PMID:26619011 PMID:26689913 PMID:26696773 PMID:26829053 PMID:27132509 PMID:27153395 PMID:27179218 PMID:27285993 PMID:27930734 PMID:28185914 PMID:28202063 PMID:28492532 PMID:28873162 PMID:28975465 PMID:29489754 PMID:29625052 PMID:29684080 PMID:30004444 PMID:30350464 PMID:30605844 PMID:30716324 PMID:30982079 PMID:30989433 PMID:32984025 PMID:32989326 PMID:33372952 PMID:33486679 PMID:33898318 PMID:36451132 More...
NCBI chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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Clip4
CAP-GLY domain containing linker protein family, member 4
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:23,616,280...23,697,625
Ensembl chr 6:23,616,281...23,677,874
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Pcare
photoreceptor cilium actin regulator
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169
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Togaram2
TOG array regulator of axonemal microtubules 2
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:23,770,979...23,828,884
Ensembl chr 6:23,771,052...23,828,499
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Wdr43
WD repeat domain 43
ISO
ClinVar Annotator: match by term: Neuroblastoma, susceptibility to, 3
ClinVar
PMID:28492532
NCBI chr 6:23,845,499...23,884,846
Ensembl chr 6:23,845,499...23,884,846
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Myc
MYC proto-oncogene, bHLH transcription factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8761367
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Eno2
enolase 2
ISO
RGD
PMID:15010880
RGD:2293735
NCBI chr 4:157,572,085...157,580,971
Ensembl chr 4:157,572,088...157,580,980
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Atrx
ATRX, chromatin remodeler
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21252315
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Bap1
Brca1 associated protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17341847
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Calr
calreticulin
exacerbates
ISO
human cells and recombinant protein in a mouse model
RGD
PMID:16293970
RGD:150521697
NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neuroendocrine neoplasm
CTD ClinVar
PMID:24185511
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Daxx
death-domain associated protein
severity
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:21252315 PMID:23954140
RGD:9587816
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
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Men1
menin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21252315
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Pthlh
parathyroid hormone-like hormone
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17625444
NCBI chr 4:180,188,792...180,199,847
Ensembl chr 4:180,188,792...180,199,847
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Sstr1
somatostatin receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17625444
NCBI chr 6:75,832,292...75,836,806
Ensembl chr 6:75,832,530...75,836,802
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Sstr2
somatostatin receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17625444
NCBI chr10:98,664,204...98,671,370
Ensembl chr10:98,664,216...98,674,351
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Sstr3
somatostatin receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17625444
NCBI chr 7:110,092,563...110,109,043
Ensembl chr 7:110,092,575...110,099,769
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Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18281538
NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536
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Kdm6b
lysine demethylase 6B
ISO
mRNA, protein:increased expression:sciatic nerve (mouse)
RGD
PMID:23748155
RGD:9587842
NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
mRNA:increased expression:skin:
RGD
PMID:7692836
RGD:12910728
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neurofibroma
CTD ClinVar
PMID:9783703 PMID:10712197 PMID:12807981 PMID:16199547 PMID:16835897 PMID:16944272 PMID:17103458 PMID:17311297 PMID:18546366 PMID:19449407 PMID:21031597 PMID:23758643 PMID:23913538 PMID:25119042 PMID:25741868 PMID:25788518 PMID:26467025 PMID:26514327 PMID:27074763 PMID:28068329 PMID:28492532 PMID:28955729 PMID:29618358 PMID:30290804 PMID:31476437 PMID:31533651 PMID:31717729 PMID:31766501 PMID:31776437 PMID:32005694 PMID:32056211 PMID:32533764 PMID:32581362 PMID:34080803 PMID:34427956 PMID:34868260 More...
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Neurofibroma
ClinVar
PMID:17052965 PMID:21548061 PMID:24033266 PMID:24451042 PMID:24803665 PMID:25741868 PMID:26556299 PMID:28492532 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Spinal neurofibroma
ClinVar
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neurofibromatosis | ClinVar Annotator: match by term: Neurofibromatosis type 6
CTD ClinVar
PMID:9150739 PMID:9180088 PMID:10678181 PMID:10712197 PMID:14722917 PMID:16199547 PMID:16479075 PMID:16835897 PMID:16941471 PMID:17209131 PMID:17426081 PMID:17551851 PMID:17914445 PMID:18546366 PMID:21354044 PMID:21949590 PMID:23460398 PMID:23668869 PMID:23913538 PMID:25240281 PMID:25525159 PMID:25741868 PMID:26467025 PMID:26969325 PMID:27069254 PMID:27838393 PMID:28492532 PMID:29872168 PMID:30530636 PMID:31370276 PMID:31533651 PMID:31533797 PMID:31717729 PMID:36988593 More...
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Spred1
sprouty-related, EVH1 domain containing 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis
ClinVar
PMID:17704776 PMID:24469042 PMID:25741868 PMID:28492532
NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718
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Abhd15
abhydrolase domain containing 15
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:62,363,209...62,368,600
Ensembl chr10:62,363,209...62,368,600
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Adap2
ArfGAP with dual PH domains 2
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:65,138,006...65,166,147
Ensembl chr10:65,138,020...65,165,604
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Ankrd13b
ankyrin repeat domain 13B
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:62,319,660...62,338,342
Ensembl chr10:62,319,647...62,340,253
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Atad5
ATPase family, AAA domain containing 5
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:65,070,682...65,118,489
Ensembl chr10:65,070,689...65,117,845
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Bglap
bone gamma-carboxyglutamate protein
ISO
protein:decreased expression:blood
RGD
PMID:22120694
RGD:6483542
NCBI chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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Blmh
bleomycin hydrolase
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:61,772,112...61,815,212
Ensembl chr10:61,758,478...61,815,212
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Coro6
coronin 6
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:62,311,552...62,319,659
Ensembl chr10:62,311,660...62,319,659
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Cpd
carboxypeptidase D
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:61,623,528...61,687,491
Ensembl chr10:61,623,526...61,687,491
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Crlf3
cytokine receptor-like factor 3
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:65,024,228...65,060,746
Ensembl chr10:65,023,388...65,060,670
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Cryba1
crystallin, beta A1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726
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Efcab5
EF-hand calcium binding domain 5
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:61,926,419...62,042,745
Ensembl chr10:61,926,953...62,042,749
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Evi2a
ecotropic viral integration site 2A
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 PMID:10607834 PMID:10631140 PMID:10712197 PMID:10980545 PMID:11857752 PMID:12566521 PMID:12807981 PMID:14722914 PMID:15257518 PMID:16199547 PMID:16283621 PMID:16786508 PMID:18183042 PMID:18196300 PMID:19221814 PMID:20513137 PMID:22241097 PMID:22807134 PMID:22837079 PMID:23244495 PMID:23532973 PMID:23913538 PMID:24033266 PMID:24232412 PMID:24357598 PMID:24958239 PMID:25205021 PMID:25480383 PMID:25541118 PMID:25631097 PMID:25640679 PMID:26178382 PMID:26189818 PMID:26458495 PMID:26635368 PMID:26740943 PMID:27322474 PMID:27629806 PMID:28492532 PMID:30530636 PMID:33877690 More...
NCBI chr10:64,485,760...64,489,660
Ensembl chr10:64,485,200...64,489,843
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Evi2b
ecotropic viral integration site 2B
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 PMID:10607834 PMID:10631140 PMID:10712197 PMID:10980545 PMID:11857752 PMID:12566521 PMID:12807981 PMID:14722914 PMID:15257518 PMID:16199547 PMID:16283621 PMID:16786508 PMID:18183042 PMID:18196300 PMID:19221814 PMID:20513137 PMID:22241097 PMID:22807134 PMID:22837079 PMID:23244495 PMID:23532973 PMID:23913538 PMID:24033266 PMID:24232412 PMID:24357598 PMID:24958239 PMID:25205021 PMID:25480383 PMID:25541118 PMID:25631097 PMID:25640679 PMID:25741868 PMID:26178382 PMID:26189818 PMID:26458495 PMID:26635368 PMID:26740943 PMID:27322474 PMID:27629806 PMID:28492532 PMID:30530636 PMID:33877690 More...
NCBI chr10:64,472,693...64,474,311
Ensembl chr10:64,471,505...64,481,560
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Gabbr1
gamma-aminobutyric acid type B receptor subunit 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:25741868
NCBI chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994
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Git1
GIT ArfGAP 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:62,342,082...62,356,379
Ensembl chr10:62,342,299...62,356,373
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Gosr1
golgi SNAP receptor complex member 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:61,570,499...61,607,287
Ensembl chr10:61,450,494...61,607,177 Ensembl chr10:61,450,494...61,607,177
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Nf1
neurofibromin 1
ISO ISS
ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Peripheral type neurofibromatosis | ClinVar Annotator: match by term: Von Recklinghausen disease ClinVar Annotator: match by term: Neurofibromatosis, type 1 | ClinVar Annotator: match by term: Von Recklinghausen disease OMIM:162200 DNA:multiple:multiple (human) CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:190611 PMID:1071297 PMID:1302608 PMID:1370276 PMID:1483690 PMID:1506012 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1587809 PMID:1719426 PMID:1757093 PMID:1783401 PMID:1937470 PMID:2114220 PMID:2152033 PMID:2411134 PMID:2480366 PMID:2948975 PMID:4633999 PMID:7311297 PMID:7542886 PMID:7581973 PMID:7586657 PMID:7607663 PMID:7633431 PMID:7643367 PMID:7649559 PMID:7655472 PMID:7874161 PMID:7903661 PMID:7904209 PMID:7981679 PMID:7981692 PMID:8034304 PMID:8069310 PMID:8069315 PMID:8081387 PMID:8099055 PMID:8116612 PMID:8118468 PMID:8242079 PMID:8264648 PMID:8385067 PMID:8437860 PMID:8496156 PMID:8499944 PMID:8499945 PMID:8544190 PMID:8628317 PMID:8664912 PMID:8669813 PMID:8807336 PMID:8829638 PMID:8834249 PMID:8837715 PMID:8845843 PMID:8931693 PMID:8957181 PMID:9003501 PMID:9042399 PMID:9101300 PMID:9101303 PMID:9109662 PMID:9132486 PMID:9150739 PMID:9177273 PMID:9180088 PMID:9195229 PMID:9219684 PMID:9219873 PMID:9298829 PMID:9302992 PMID:9385374 PMID:9452037 PMID:9463322 PMID:9475595 PMID:9536098 PMID:9544853 PMID:9545275 PMID:9639526 PMID:9643287 PMID:9654211 PMID:9668168 PMID:9687500 PMID:9691142 PMID:9783703 PMID:10076878 PMID:10090487 PMID:10220149 PMID:10336779 PMID:10451518 PMID:10494088 PMID:10534774 PMID:10543400 PMID:10587576 PMID:10607834 PMID:10631140 PMID:10633134 PMID:10677298 PMID:10678181 PMID:10712197 PMID:10721668 PMID:10726756 PMID:10862084 PMID:10874316 PMID:10980545 PMID:11115850 PMID:11137998 PMID:11258625 PMID:11292340 PMID:11431704 PMID:11476066 PMID:11704931 PMID:11726231 PMID:11735023 PMID:11857752 PMID:11967553 PMID:12095621 PMID:12112660 PMID:12387455 PMID:12403553 PMID:12438263 PMID:12483293 PMID:12522551 PMID:12552569 PMID:12566521 PMID:12624144 PMID:12687660 PMID:12746402 PMID:12787671 PMID:12807981 PMID:12808981 PMID:12822827 PMID:12872266 PMID:14513407 PMID:14517963 PMID:14569132 PMID:14605872 PMID:14635100 PMID:14722914 PMID:14722917 PMID:15060124 PMID:15146469 PMID:15207265 PMID:15257518 PMID:15338462 PMID:15520408 PMID:15523626 PMID:15523642 PMID:15627836 PMID:15833774 PMID:15846561 PMID:15858190 PMID:15863657 PMID:15948193 PMID:16005615 PMID:16138229 PMID:16199547 PMID:16283621 PMID:16306205 PMID:16380919 PMID:16397625 PMID:16405917 PMID:16414076 PMID:16461335 PMID:16479075 PMID:16513807 PMID:16527612 PMID:16528606 PMID:16542390 PMID:16544997 PMID:16740526 PMID:16773574 PMID:16786508 PMID:16787982 PMID:16825284 PMID:16835897 PMID:16870183 PMID:16937374 PMID:16941471 PMID:16944272 PMID:16961930 PMID:17103458 PMID:17114577 PMID:17160901 PMID:17209131 PMID:17295913 PMID:17311297 PMID:17353900 PMID:17406642 PMID:17426081 PMID:17514731 PMID:17551851 PMID:17576681 PMID:17668375 PMID:17712740 PMID:17726231 PMID:17889038 PMID:17914445 PMID:17960768 PMID:18000842 PMID:18021924 PMID:18041031 PMID:18055911 PMID:18183042 PMID:18183640 PMID:18196300 PMID:18484666 PMID:18503770 PMID:18546366 PMID:18800150 PMID:19061981 PMID:19076627 PMID:19120036 PMID:19142971 PMID:19221814 PMID:19241459 PMID:19292874 PMID:19449407 PMID:19665063 PMID:19738042 PMID:19763152 PMID:19785027 PMID:19823873 PMID:19845691 PMID:19920235 PMID:19935827 PMID:20015894 PMID:20186797 PMID:20229272 PMID:20301288 PMID:20307669 PMID:20358387 PMID:20513137 PMID:20601955 PMID:20602485 PMID:20605257 PMID:20844836 PMID:20927530 PMID:21031597 PMID:21089070 PMID:21271658 PMID:21278392 PMID:21280148 PMID:21354044 PMID:21362601 PMID:21394830 PMID:21501659 PMID:21512413 PMID:21520333 PMID:21532985 PMID:21567923 PMID:21618341 PMID:21732117 PMID:21822264 PMID:21838856 PMID:22034633 PMID:22090377 PMID:22105171 PMID:22108604 PMID:22155606 PMID:22159552 PMID:22190595 PMID:22207399 PMID:22222937 PMID:22241097 PMID:22406018 PMID:22608206 PMID:22617876 PMID:22664660 PMID:22703879 PMID:22807134 PMID:22837079 PMID:22911296 PMID:22925204 PMID:22962301 PMID:22965773 PMID:23010473 PMID:23047742 PMID:23175693 PMID:23222849 PMID:23244495 PMID:23322702 PMID:23404336 PMID:23407919 PMID:23417386 PMID:23460398 PMID:23532973 PMID:23583981 PMID:23621909 PMID:23624750 PMID:23637863 PMID:23656349 PMID:23668869 PMID:23758643 PMID:23781326 PMID:23812910 PMID:23832011 PMID:23906300 PMID:23913538 PMID:23954459 PMID:23999528 PMID:24033266 PMID:24218100 PMID:24232412 PMID:24357598 PMID:24413922 PMID:24418705 PMID:24448499 PMID:24451118 PMID:24463508 PMID:24506781 PMID:24586880 PMID:24654934 PMID:24676424 PMID:24676943 PMID:24694336 PMID:24710307 PMID:24711935 PMID:24728327 PMID:24789688 PMID:24803665 PMID:24916674 PMID:24922668 PMID:24932921 PMID:24951259 PMID:24958239 PMID:25049390 PMID:25074460 PMID:25156439 PMID:25166435 PMID:25205021 PMID:25211147 PMID:25234363 PMID:25240281 PMID:25293717 PMID:25324867 PMID:25325900 PMID:25326635 PMID:25326637 PMID:25356970 PMID:25370043 PMID:25403449 PMID:25480383 PMID:25520849 PMID:25525159 PMID:25533962 PMID:25541118 PMID:25612910 PMID:25624686 PMID:25631097 PMID:25640679 PMID:25733387 PMID:25741868 PMID:25788518 PMID:25810463 PMID:25834617 PMID:25877891 PMID:25925892 PMID:25938944 PMID:25966637 PMID:26000329 PMID:26017449 PMID:26056819 PMID:26076063 PMID:26088551 PMID:26155992 PMID:26178382 PMID:26189818 PMID:26230854 PMID:26275891 PMID:26331193 PMID:26345759 PMID:26380986 PMID:26458495 PMID:26467025 PMID:26478990 PMID:26489445 PMID:26509978 PMID:26510091 PMID:26514327 PMID:26556299 PMID:26580448 PMID:26635368 PMID:26659639 PMID:26706011 PMID:26740943 PMID:26757882 PMID:26758488 PMID:26822949 PMID:26840085 PMID:26908603 PMID:26962827 PMID:26969325 PMID:26973730 PMID:27060315 PMID:27069254 PMID:27074763 PMID:27153395 PMID:27171602 PMID:27234610 PMID:27305697 PMID:27313208 PMID:27322474 PMID:27482814 PMID:27493482 PMID:27498913 PMID:27617404 PMID:27629806 PMID:27716896 PMID:27791021 PMID:27793025 PMID:27838393 PMID:27848944 PMID:27862945 PMID:27959697 PMID:27980226 PMID:27986441 PMID:27999334 PMID:28008555 PMID:28068329 PMID:28130400 PMID:28135719 PMID:28152038 PMID:28422438 PMID:28492532 PMID:28518168 PMID:28529006 PMID:28548933 PMID:28706617 PMID:28825729 PMID:28873162 PMID:28891274 PMID:28924536 PMID:28955729 PMID:28961165 PMID:28976792 PMID:29068549 PMID:29082380 PMID:29089047 PMID:29100083 PMID:29146900 PMID:29281626 PMID:29290338 PMID:29415745 PMID:29449315 PMID:29470806 PMID:29471550 PMID:29483232 PMID:29489754 PMID:29498099 PMID:29522274 PMID:29566708 PMID:29588991 PMID:29618358 PMID:29620724 PMID:29625052 PMID:29673180 PMID:29680440 PMID:29684080 PMID:29685074 PMID:29758562 PMID:29849115 PMID:29872168 PMID:29908077 PMID:29914388 PMID:29926981 PMID:29952103 PMID:29957862 PMID:30001348 PMID:30008175 PMID:30014477 PMID:30046999 PMID:30086788 PMID:30087692 PMID:30093976 PMID:30098238 PMID:30104198 PMID:30104415 PMID:30111351 PMID:30124220 PMID:30190611 PMID:30262796 PMID:30287823 PMID:30290804 PMID:30291346 PMID:30306255 PMID:30308447 PMID:30530636 PMID:30632835 PMID:30680046 PMID:30763456 PMID:30784236 PMID:30828344 PMID:30877234 PMID:30977107 PMID:31031587 PMID:31048186 PMID:31066482 PMID:31130284 PMID:31159747 PMID:31160754 PMID:31201679 PMID:31206626 PMID:31301733 PMID:31308404 PMID:31347283 PMID:31370276 PMID:31371350 PMID:31397088 PMID:31422574 PMID:31443423 PMID:31474762 PMID:31476437 PMID:31507634 PMID:31533651 PMID:31533797 PMID:31573083 PMID:31595648 PMID:31690835 PMID:31717729 PMID:31730495 PMID:31766501 PMID:31776437 PMID:31836666 PMID:31868168 PMID:31874108 PMID:31882575 PMID:31891871 PMID:32005694 PMID:32052251 PMID:32056211 PMID:32091409 PMID:32107864 PMID:32123317 PMID:32126153 PMID:32133419 PMID:32359129 PMID:32427313 PMID:32461654 PMID:32533764 PMID:32552793 PMID:32554297 PMID:32566746 PMID:32573669 PMID:32575496 PMID:32581362 PMID:32582540 PMID:32761593 PMID:32860008 PMID:32873259 PMID:32980694 PMID:33020650 PMID:33046013 PMID:33121128 PMID:33231931 PMID:33322618 PMID:33372952 PMID:33443663 PMID:33471991 PMID:33540839 PMID:33562071 PMID:33673681 PMID:33673806 PMID:33674644 PMID:33794220 PMID:33804961 PMID:33877690 PMID:33911094 PMID:33919865 PMID:33999308 PMID:34012022 PMID:34080803 PMID:34284872 PMID:34392670 PMID:34418705 PMID:34427956 PMID:34439939 PMID:34489640 PMID:34589056 PMID:34598035 PMID:34646065 PMID:34694046 PMID:34707296 PMID:34782607 PMID:34887559 PMID:34906502 PMID:34988040 PMID:34992632 PMID:35024939 PMID:35039564 PMID:35066574 PMID:35091509 PMID:35101336 PMID:35240321 PMID:35264596 PMID:35353986 PMID:35698239 PMID:35836575 PMID:35885913 PMID:36243179 PMID:36988593 PMID:37149759 PMID:125305868 PMID:10591653 PMID:32575496 PMID:2134734 More...
RGD:1302540 , RGD:151708706 , RGD:1580933
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
G
Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
G
Nsrp1
nuclear speckle splicing regulatory protein 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:61,880,807...61,914,471
Ensembl chr10:61,880,825...61,914,471
G
Nufip2
nuclear FMR1 interacting protein 2
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:62,574,922...62,607,729
Ensembl chr10:62,574,882...62,600,346
G
Omg
oligodendrocyte-myelin glycoprotein
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:1568247 PMID:8116612 PMID:8931693 PMID:9643287 PMID:10587576 PMID:10607834 PMID:10631140 PMID:10712197 PMID:10980545 PMID:11857752 PMID:12566521 PMID:12807981 PMID:14722914 PMID:15257518 PMID:16199547 PMID:16283621 PMID:16786508 PMID:18183042 PMID:18196300 PMID:19221814 PMID:20513137 PMID:22241097 PMID:22807134 PMID:22837079 PMID:23244495 PMID:23532973 PMID:23913538 PMID:24033266 PMID:24232412 PMID:24357598 PMID:24958239 PMID:25205021 PMID:25480383 PMID:25541118 PMID:25631097 PMID:25640679 PMID:26178382 PMID:26189818 PMID:26458495 PMID:26635368 PMID:26740943 PMID:27322474 PMID:27629806 PMID:28492532 PMID:30530636 PMID:33877690 More...
NCBI chr10:64,461,350...64,464,084
Ensembl chr10:64,461,350...64,464,084
G
Rnf135
ring finger protein 135
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
G
Slc6a4
solute carrier family 6 member 4
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
G
Spred1
sprouty-related, EVH1 domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17704776
NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718
G
Ssh2
slingshot protein phosphatase 2
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:62,057,400...62,309,328
Ensembl chr10:62,057,044...62,306,563
G
Taok1
TAO kinase 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:62,373,072...62,465,295
Ensembl chr10:62,381,404...62,465,766
G
Tefm
transcription elongation factor, mitochondrial
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:65,119,657...65,124,233
Ensembl chr10:65,119,659...65,124,486
G
Tmigd1
transmembrane and immunoglobulin domain containing 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:61,739,071...61,751,025
Ensembl chr10:61,736,462...61,751,025
G
Tp53i13
tumor protein p53 inducible protein 13
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 1
ClinVar
PMID:10712197 PMID:23913538 PMID:28492532
NCBI chr10:62,356,722...62,363,122
Ensembl chr10:62,356,722...62,361,343
G
Vegfa
vascular endothelial growth factor A
ISO
mRNA,protein:increased expression:dermis
RGD
PMID:12930297
RGD:8547970
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Map2k2
mitogen activated protein kinase kinase 2
ISO
ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
ClinVar
PMID:28492532
NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243
G
Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:190611 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 PMID:7586657 PMID:7607663 PMID:7649559 PMID:7655472 PMID:7874161 PMID:7903661 PMID:7904209 PMID:7981679 PMID:8069310 PMID:8385067 PMID:8544190 PMID:8664912 PMID:8834249 PMID:8845843 PMID:9042399 PMID:9109662 PMID:9219684 PMID:9302992 PMID:9385374 PMID:9463322 PMID:9545275 PMID:9654211 PMID:9668168 PMID:9687500 PMID:9691142 PMID:9783703 PMID:10076878 PMID:10090487 PMID:10336779 PMID:10451518 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:11431704 PMID:12095621 PMID:12112660 PMID:12522551 PMID:12552569 PMID:12566521 PMID:12707950 PMID:12807981 PMID:14569132 PMID:14722917 PMID:15060124 PMID:15146469 PMID:15207265 PMID:15523642 PMID:15863657 PMID:16138229 PMID:16199547 PMID:16479075 PMID:16513807 PMID:16528606 PMID:16542390 PMID:16544997 PMID:16773574 PMID:16786508 PMID:16835897 PMID:16870183 PMID:16944272 PMID:17160901 PMID:17295913 PMID:17311297 PMID:17426081 PMID:17668375 PMID:17726231 PMID:17914445 PMID:18041031 PMID:18183640 PMID:18484666 PMID:18546366 PMID:18800150 PMID:19061981 PMID:19076627 PMID:19120036 PMID:19221814 PMID:19738042 PMID:19845691 PMID:19935827 PMID:20301288 PMID:20601955 PMID:20602485 PMID:21271658 PMID:21354044 PMID:21520333 PMID:21532985 PMID:22034633 PMID:22108604 PMID:22155606 PMID:22190595 PMID:22703879 PMID:22807134 PMID:22925204 PMID:22962301 PMID:22965773 PMID:23010473 PMID:23047742 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:24463508 PMID:24654934 PMID:24711935 PMID:24728327 PMID:24789688 PMID:24803665 PMID:24922668 PMID:24951259 PMID:25074460 PMID:25324867 PMID:25325900 PMID:25326637 PMID:25370043 PMID:25525159 PMID:25533962 PMID:25541118 PMID:25741868 PMID:25788518 PMID:25810463 PMID:25877891 PMID:25925892 PMID:25966637 PMID:26000329 PMID:26056819 PMID:26088551 PMID:26155992 PMID:26178382 PMID:26467025 PMID:26489445 PMID:26509978 PMID:26510091 PMID:26580448 PMID:26635368 PMID:26706011 PMID:26740943 PMID:26758488 PMID:26908603 PMID:26962827 PMID:26969325 PMID:26973730 PMID:27060315 PMID:27069254 PMID:27074763 PMID:27171602 PMID:27322474 PMID:27482814 PMID:27498913 PMID:27793025 PMID:27838393 PMID:27980226 PMID:27999334 PMID:28135719 PMID:28422438 PMID:28492532 PMID:28518168 PMID:28706617 PMID:28825729 PMID:28873162 PMID:28976792 PMID:29082380 PMID:29089047 PMID:29290338 PMID:29415745 PMID:29483232 PMID:29522274 PMID:29758562 PMID:29872168 PMID:29908077 PMID:29914388 PMID:29926981 PMID:30014477 PMID:30111351 PMID:30190611 PMID:30287823 PMID:30290804 PMID:30291346 PMID:30308447 PMID:30530636 PMID:30632835 PMID:30877234 PMID:31159747 PMID:31160754 PMID:31308404 PMID:31347283 PMID:31370276 PMID:31371350 PMID:31422574 PMID:31533797 PMID:31595648 PMID:31717729 PMID:31730495 PMID:31766501 PMID:31776437 PMID:31868168 PMID:31891871 PMID:32461654 PMID:32566746 PMID:33046013 PMID:33322618 PMID:33372952 PMID:33471991 PMID:33540839 PMID:33562071 PMID:34080803 PMID:34418705 PMID:34427956 PMID:34988040 PMID:35039564 PMID:35836575 PMID:35885913 PMID:36988593 PMID:125305868 More...
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
ClinVar
PMID:22465605 PMID:28074573 PMID:28492532
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
G
Spred1
sprouty-related, EVH1 domain containing 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718
G
Kdr
kinase insert domain receptor
ISO
RGD
PMID:10554031
RGD:8552377
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
G
Mxi1
MAX interactor 1, dimerization protein
ISO
ClinVar Annotator: match by term: Neurofibrosarcoma
ClinVar RGD
PMID:10470286 PMID:10470286
RGD:1600205
NCBI chr 1:252,323,915...252,383,682
Ensembl chr 1:252,323,303...252,383,681
G
Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16239399
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
G
Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:peripheral nerve
RGD
PMID:10554031
RGD:8552377
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
G
Aqp4
aquaporin 4
disease_progression
ISO
CTD Direct Evidence: marker/mechanism associated withHiccup; DNA:polymorphism:promoter:-1003A>G(human)
CTD RGD
PMID:18509235 PMID:24070676 PMID:16087714 PMID:22271321 PMID:18420727 PMID:23116879 PMID:23890015 PMID:23995423 PMID:20047900 More...
RGD:5148024 , RGD:8696034 , RGD:8696033 , RGD:8696032 , RGD:8696026 , RGD:8695993 , RGD:5148032
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
G
Cd59em1Ask
CD59 molecule; CRISPR/Cas9 induced mutant1, Ask
severity
IMP
RGD
PMID:28212662
RGD:13792592
G
Cd59b
CD59b molecule
severity
IMP
RGD
PMID:28212662
RGD:13792592
NCBI chr 3:90,459,085...90,477,571
Ensembl chr 3:90,459,162...90,478,847
G
Gfap
glial fibrillary acidic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
G
Il21
interleukin 21
ISO
protein:increased expression:cerebrospinal fluid (human)
RGD
PMID:23041403
RGD:127285589
NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996
G
Il6
interleukin 6
severity
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Mbp
myelin basic protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18509235
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
G
Mmp9
matrix metallopeptidase 9
ISO
protein:increased expression:serum
RGD
PMID:21621856
RGD:8547883
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Nefh
neurofilament heavy chain
ISO
protein:increased expression:serum:
RGD
PMID:23316360
RGD:27226805
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
G
Nefl
neurofilament light chain
ISO
protein:increased expression:serum (human)
RGD
PMID:33317883
RGD:127285024
NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
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RT1-Bb
RT1 class II, locus Bb
susceptibility
ISO
DNA:polymorphism:cds:HLA-DQB1*0402 (human) DNA:polymorphism:: HLA-DQB1*02:02 (human)
RGD
PMID:21908482 PMID:27049564
RGD:7421588 , RGD:11530523
NCBI chr20:4,596,558...4,602,201
Ensembl chr20:4,596,559...4,607,597
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism (human) DNA:polymorphism:: HLA-DRB1*04:04, DRB1*07:01, DRB1*10:01(human)
RGD
PMID:21748712 PMID:27049564
RGD:5147590 , RGD:11530523
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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S100b
S100 calcium binding protein B
ISO
RGD
PMID:21371524
RGD:5508767
NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
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Arid1a
AT-rich interaction domain 1A
exacerbates
ISO
protein:decreased expression:endocrine pancreas (human)
RGD
PMID:32282764
RGD:126790640
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Cdk4
cyclin-dependent kinase 4
ISO
associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human)
RGD
PMID:29149451
RGD:13781946
NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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Cdk6
cyclin-dependent kinase 6
ISO
associated with multiple endocrine neoplasia type 1;mRNA:increased expression:islet of Langerhans (human)
RGD
PMID:29149451
RGD:13781946
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
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Bap1
Brca1 associated protein 1
ISO
ClinVar Annotator: match by term: Intraocular melanoma
ClinVar
PMID:25741868
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Tmem127
transmembrane protein 127
ISO
ClinVar Annotator: match by term: Intraocular melanoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519
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Hif1a
hypoxia inducible factor 1 subunit alpha
severity
ISO
protein:increased expression:neuroblastoma (human)
RGD
PMID:18431543
RGD:8694471
NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261
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Atrx
ATRX, chromatin remodeler
ISO
ClinVar Annotator: match by term: Oligodendroglioma
ClinVar
NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Camk2b
calcium/calmodulin-dependent protein kinase II beta
disease_progression
ISO
RGD
PMID:15750623
RGD:13702479
NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994
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Cic
capicua transcriptional repressor
ISO
ClinVar Annotator: match by term: Oligodendroglioma
ClinVar
NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
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Dtx1
deltex E3 ubiquitin ligase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr12:35,849,647...35,880,835
Ensembl chr12:35,849,617...35,880,838
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Egf
epidermal growth factor
susceptibility
ISO
DNA:polymorphism:promoter:GG genotypes were associated with increased risk.
RGD
PMID:17473192
RGD:13702474
NCBI chr 2:218,219,408...218,302,359
Ensembl chr 2:218,219,415...218,302,064
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Gdnf
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19138852
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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Hey1
hes-related family bHLH transcription factor with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Oligodendroglioma
CTD ClinVar
PMID:18772396 PMID:19657110 PMID:19798509 PMID:19818334 PMID:20160062 PMID:21446021 PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:23558169 PMID:24606448 PMID:25043048 PMID:25157968 PMID:25741868 PMID:26619011 PMID:36201590 More...
NCBI chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20160062
NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:15455350
RGD:2317688
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Ptges3
prostaglandin E synthase 3
ISO
protein:increased expression:brain cortex, white matter (human)
RGD
PMID:19347995
RGD:5688067
NCBI chr 7:490,698...507,759
Ensembl chr 7:490,656...508,084
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Rb1
RB transcriptional corepressor 1
disease_progression
ISO
RGD
PMID:15970925
RGD:13782064
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:1318289
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Scnn1b
sodium channel epithelial 1 subunit beta
ISO
ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome
ClinVar
NCBI chr 1:176,430,063...176,484,451
Ensembl chr 1:176,430,103...176,484,451
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Opsoclonus-myoclonus syndrome
ClinVar
PMID:22955521 PMID:22974104 PMID:24781757 PMID:25720320 PMID:25741868 PMID:28492532 PMID:29177515 PMID:29978154 PMID:30854332 PMID:30877234 PMID:31589614 PMID:31981491 PMID:32581362 PMID:33854214 More...
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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Alx4
ALX homeobox 4
ISO
ClinVar Annotator: match by term: Optic nerve glioma
ClinVar
PMID:25741868
NCBI chr 3:79,611,682...79,648,260
Ensembl chr 3:79,611,719...79,648,260
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Cx3cr1
C-X3-C motif chemokine receptor 1
onset
ISO
associated with Neurofibromatosis 1
RGD
PMID:23424002
RGD:9491391
NCBI chr 8:119,785,726...119,799,431
Ensembl chr 8:119,782,595...119,800,014
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Nf1
neurofibromin 1
susceptibility
ISO
associated with Neurofibromatosis 1; DNA:mutations:5'end: ClinVar Annotator: match by term: Optic nerve glioma
ClinVar RGD
PMID:10712197 PMID:16199547 PMID:23913538 PMID:25741868 PMID:28492532 PMID:29483232 PMID:21278392 More...
RGD:12789442
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Gli3
GLI family zinc finger 3
ISO ISS
DNA:frameshift deletions ClinVar Annotator: match by term: Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly | ClinVar Annotator: match by term: Pallister-Hall syndrome OMIM:146510 DNA:mutations:exon, intron:multiple DNA:deletions CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:6641002 PMID:9054938 PMID:9148633 PMID:10441570 PMID:10945658 PMID:12545275 PMID:15739154 PMID:15811011 PMID:18000979 PMID:18435847 PMID:21532573 PMID:24736735 PMID:25741868 PMID:28492532 PMID:34482537 PMID:34906502 PMID:9054938 PMID:15739154 PMID:24736735 PMID:11978771 More...
RGD:1599838 , RGD:12738222 , RGD:12738205 , RGD:12738143
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas
ClinVar
PMID:15145354 PMID:22762150 PMID:25741868 PMID:29446198
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Cux1
cut-like homeobox 1
exacerbates
ISO
protein:increased expression:pancreas (human)
RGD
PMID:32707646
RGD:153297777
NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866
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Daxx
death-domain associated protein
disease_progression
ISO
DNA:frameshift, frameshift mutations, nonsense mutation, missense mutations:CDS:multiple (human)
RGD
PMID:29212165
RGD:152025205
NCBI chr20:4,970,090...4,976,145
Ensembl chr20:4,970,092...4,975,843
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:14501508
RGD:2317661
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas
ClinVar
PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:25099575 PMID:25741868 PMID:28492532 PMID:28724667 More...
NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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Pgf
placental growth factor
disease_progression treatment
ISO
protein:increased expression:serum (human) human cells in a mouse model
RGD
PMID:23463017 PMID:26861455
RGD:14349029 , RGD:14349030
NCBI chr 6:104,816,102...104,826,685
Ensembl chr 6:104,816,104...104,826,685
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Pten
phosphatase and tensin homolog
ISO
associated with Neurofibromatosis 1;DNA:loss of heterozygosity:cds: (human)
RGD
PMID:19246520
RGD:12802354
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Fcgr1a
Fc gamma receptor 1A
ISO
ClinVar Annotator: match by term: Peritoneal Gliomatosis
ClinVar
NCBI chr 2:183,851,075...183,860,077
Ensembl chr 2:183,851,077...183,859,994
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H2bc18
H2B clustered histone 18
ISO
ClinVar Annotator: match by term: Peritoneal Gliomatosis
ClinVar
NCBI chr 2:183,838,331...183,842,769
Ensembl chr 2:183,838,334...183,841,529
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RT1-Db1
RT1 class II, locus Db1
ISO
ClinVar Annotator: match by term: Peritoneal Gliomatosis
ClinVar
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Flcn
folliculin
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:15852235 PMID:16199547 PMID:25741868 PMID:28492532
NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic
ClinVar
PMID:12460918 PMID:15696205 PMID:16247081 PMID:16361624 PMID:16618717 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:23406027 PMID:24033266 PMID:25157968 More...
NCBI chr 4:178,185,418...178,218,484
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506 PMID:32546565
NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic
ClinVar
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25525159 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26689913 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30068732 PMID:30877234 PMID:31368675 PMID:31589614 PMID:31827275 PMID:32581362 PMID:32782288 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 PMID:35441217 More...
NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Pilomyxoid astrocytoma
ClinVar
PMID:25705862 PMID:25741868 PMID:26619011 PMID:26942290 PMID:28492532 PMID:33448156 More...
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: Pineoblastoma
ClinVar
PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:24909177 PMID:25022261 PMID:25118636 PMID:25741868 PMID:26925222 PMID:27459524 PMID:28492532 PMID:28960912 PMID:30097050 More...
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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Avpr1b
arginine vasopressin receptor 1B
ISO
RGD
PMID:28692683
RGD:14700668
NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
IAGP
RGD
PMID:12036912
RGD:619590
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Cdkn1bwe
cyclin-dependent kinase inhibitor 1B; white eye mutation
IAGP
RGD
PMID:12036912
RGD:619590
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Grk2
G protein-coupled receptor kinase 2
ISO
mRNA:altered expression:pituitary gland (human)
RGD
PMID:24169548
RGD:13792706
NCBI chr 1:201,580,823...201,601,580
Ensembl chr 1:201,581,480...201,601,582
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16728643 PMID:17341560 PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 PMID:21454441 PMID:21753072 PMID:22319033 PMID:22720333 PMID:23300914 PMID:23321498 PMID:23633209 PMID:24033266 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29074612 PMID:30461320 PMID:32324286 PMID:34588620 More...
NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Pituitary adenoma 3, multiple types
OMIM ClinVar
PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7737262 PMID:7739708 PMID:8702665 PMID:8766942 PMID:9626141 PMID:9876352 PMID:11092390 PMID:11093740 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15711092 PMID:15952988 PMID:16507630 PMID:16543670 PMID:17493233 PMID:17873334 PMID:18553568 PMID:18796523 PMID:20197676 PMID:20427508 PMID:21525160 PMID:21835143 PMID:23281139 PMID:23403822 PMID:23533243 PMID:23536913 PMID:23796510 PMID:23843956 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:24855271 PMID:25044890 PMID:25157968 PMID:25219572 PMID:25719192 PMID:25741868 PMID:25802881 PMID:26619011 PMID:26633545 PMID:27398169 PMID:27506760 PMID:27703483 PMID:28492532 PMID:29059381 PMID:29072892 PMID:30349702 PMID:30674755 PMID:30702195 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:201,408,002...201,419,220
Ensembl chr 1:201,407,288...201,419,122
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C20h10orf105
similar to human chromosome 10 open reading frame 105
ISO
ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
ClinVar
PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:16199547 PMID:18273900 PMID:19683999 PMID:21228398 PMID:21940737 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:27957503 PMID:28413019 PMID:28492532 PMID:28944237 PMID:35020051 More...
NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487
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Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
OMIM ClinVar
PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 PMID:16199547 PMID:16281288 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18368581 PMID:18429043 PMID:18484607 PMID:19683999 PMID:20146813 PMID:20513143 PMID:20613545 PMID:21174530 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22899989 PMID:22995991 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23804846 PMID:23967202 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25211151 PMID:25231367 PMID:25279224 PMID:25333064 PMID:25356970 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:26226137 PMID:26264712 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27208204 PMID:27349180 PMID:27460420 PMID:27583405 PMID:27583663 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:27957503 PMID:28383030 PMID:28413019 PMID:28483220 PMID:28492532 PMID:28501645 PMID:28847902 PMID:28944237 PMID:29048421 PMID:29148562 PMID:29287849 PMID:29889784 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30123251 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30622556 PMID:30718709 PMID:31054281 PMID:31152317 PMID:31231422 PMID:31445392 PMID:31541171 PMID:31546658 PMID:31589614 PMID:31755791 PMID:31850270 PMID:32141364 PMID:32467589 PMID:32485727 PMID:32645618 PMID:32747562 PMID:32860223 PMID:32991204 PMID:33095980 PMID:33111992 PMID:33576794 PMID:34837038 PMID:35020051 PMID:35186827 PMID:35440622 PMID:35802133 PMID:36011334 PMID:36460718 PMID:36633841 PMID:36672845 More...
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Men1
menin 1
ISO
ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Vsir
V-set immunoregulatory receptor
ISO
ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
ClinVar
PMID:25741868
NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878
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Pms2
PMS1 homolog 2, mismatch repair system component
ISO
ClinVar Annotator: match by term: Pituitary carcinoma
ClinVar
PMID:7628019 PMID:15256438 PMID:16144131 PMID:16619239 PMID:17557300 PMID:18273873 PMID:18602922 PMID:19156169 PMID:20205264 PMID:20531397 PMID:21204794 PMID:21239990 PMID:21376568 PMID:22577899 PMID:22949387 PMID:23709753 PMID:24027009 PMID:24033266 PMID:24055113 PMID:24897087 PMID:25186627 PMID:25194673 PMID:25345868 PMID:25637381 PMID:25741868 PMID:25871621 PMID:26116798 PMID:26318770 PMID:26467025 PMID:26556299 PMID:26681312 PMID:26845104 PMID:27433846 PMID:27435373 PMID:27806231 PMID:27863258 PMID:28125078 PMID:28152038 PMID:28449805 PMID:28492532 PMID:28528518 PMID:28596308 PMID:29875428 PMID:30013564 PMID:30608896 PMID:30612635 PMID:30702970 PMID:31433215 PMID:31447099 PMID:31589614 PMID:31857677 PMID:31948886 PMID:31992580 PMID:32060697 PMID:32571878 PMID:32634176 PMID:32642664 PMID:32719484 PMID:33258288 PMID:33504652 PMID:35535697 PMID:36360190 More...
NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
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Agtr1a
angiotensin II receptor, type 1a
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16977796
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
RGD
PMID:18981426
RGD:8662821
NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16391232
NCBI chr 4:167,760,067...167,765,177
Ensembl chr 4:167,760,181...167,764,982
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Clu
clusterin
treatment
ISO
RGD
PMID:23051594
RGD:8699506
NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
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Drd2
dopamine receptor D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12727942
NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
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Esr2
estrogen receptor 2
ISO
mRNA:decreased expression:pituitary gland (human)
RGD
PMID:11081187
RGD:8694115
NCBI chr 6:94,858,438...94,909,630
Ensembl chr 6:94,809,547...94,908,919
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Gh1
growth hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19420816
NCBI chr10:91,228,102...91,230,079
Ensembl chr10:91,228,103...91,230,078
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Ghrh
growth hormone releasing hormone
ISO
Adenoma; human gene in mouse model
RGD
PMID:1425411
RGD:5687177
NCBI chr 3:145,992,762...146,012,528
Ensembl chr 3:145,992,763...146,011,889
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Gnas
GNAS complex locus
ISO
DNA:missense mutations: :p.201R>C, p.201R>H, p.227Q>R (human)
RGD
PMID:2549426
RGD:1601376
NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Hnrnpk
heterogeneous nuclear ribonucleoprotein K
IEP
mRNA:decreased expression:pituitary gland (rat)
RGD
PMID:12716410
RGD:10058970
NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
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Igf1
insulin-like growth factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1611713
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Il6st
interleukin 6 cytokine family signal transducer
IDA
RGD
PMID:15538938
RGD:1627046
NCBI chr 2:44,065,979...44,106,255
Ensembl chr 2:44,066,130...44,109,936
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Men1
menin 1
ISO
DNA, protein:mutations,polymorphisms, increased expression:Pituitary Gland
RGD
PMID:12030908
RGD:2317360
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Prkca
protein kinase C, alpha
ISO
DNA:point mutation:somatic:D294G
RGD
PMID:8077302
RGD:1601471
NCBI chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
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Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:2274009 PMID:3498743 PMID:6156259
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Pttg1
PTTG1 regulator of sister chromatid separation, securin
IMP
RGD
PMID:9092795
RGD:68295
NCBI chr10:27,893,466...27,904,965
Ensembl chr10:27,893,689...27,904,837
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Rb1
RB transcriptional corepressor 1
IEP
RGD
PMID:10022766
RGD:8547989
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Srsf1
serine and arginine rich splicing factor 1
ISO
mRNA:increased expression:pituitary gland (human)
RGD
PMID:23462647
RGD:11038736
NCBI chr10:72,838,926...72,859,066
Ensembl chr10:72,839,274...72,845,336
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Aass
aminoadipate-semialdehyde synthase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:51,606,461...51,663,136
Ensembl chr 4:51,606,462...51,663,136
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Abca13
ATP binding cassette subfamily A member 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:83,873,397...84,376,138
Ensembl chr14:83,873,940...84,375,075
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Abcb1a
ATP binding cassette subfamily B member 1A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
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Abcb4
ATP binding cassette subfamily B member 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
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Abcb5
ATP binding cassette subfamily B member 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:139,836,528...139,932,830
Ensembl chr 6:139,835,949...139,932,830
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Abhd11
abhydrolase domain containing 11
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,682,206...21,685,331
Ensembl chr12:21,682,202...21,685,398
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Abhd11-as1
ABHD11 antisense RNA 1 (tail to tail)
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,681,118...21,682,106
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Ache
acetylcholinesterase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651
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Actl6b
actin-like 6B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,124,887...19,141,419
Ensembl chr12:19,124,916...19,141,376
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Adam22
ADAM metallopeptidase domain 22
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:25,716,055...25,970,932
Ensembl chr 4:25,715,990...25,964,962
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Adck2
aarF domain containing kinase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:68,348,853...68,362,725
Ensembl chr 4:68,348,864...68,374,608
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Adcy1
adenylate cyclase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,911,240...82,020,594
Ensembl chr14:81,911,099...82,028,969
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Adcyap1r1
ADCYAP receptor type I
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:84,593,558...84,642,700
Ensembl chr 4:84,593,892...84,642,700
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Aebp1
AE binding protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,738,800...80,748,878
Ensembl chr14:80,738,892...80,748,877
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Agbl3
AGBL carboxypeptidase 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,448,789...63,535,538
Ensembl chr 4:63,453,940...63,531,188
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Agfg2
ArfGAP with FG repeats 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,012,228...19,048,433
Ensembl chr12:19,012,258...19,048,421
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Agmo
alkylglycerol monooxygenase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:53,986,236...54,317,838
Ensembl chr 6:53,986,292...54,317,623
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Agr2
anterior gradient 2, protein disulphide isomerase family member
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:52,708,602...52,729,378
Ensembl chr 6:52,708,602...52,729,371
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Agr3
anterior gradient 3, protein disulphide isomerase family member
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:52,643,391...52,666,638
Ensembl chr 6:52,643,391...52,666,638
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Ahcyl2
adenosylhomocysteinase-like 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,381,290...58,531,061
Ensembl chr 4:58,381,218...58,531,060
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Ahr
aryl hydrocarbon receptor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:52,234,089...52,271,568
Ensembl chr 6:52,234,089...52,271,568
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Akap9
A-kinase anchoring protein 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,056,738...30,192,716
Ensembl chr 4:30,056,738...30,192,606
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Akr1b1
aldo-keto reductase family 1 member B1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:62,932,033...62,946,126
Ensembl chr 4:62,932,031...62,946,157
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Akr1b10
aldo-keto reductase family 1 member B10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,038,459...63,060,336
Ensembl chr 4:63,040,169...63,053,852
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Akr1b8
aldo-keto reductase family 1, member B8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:62,997,241...63,009,815
Ensembl chr 4:62,997,161...63,010,097
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Akr1d1
aldo-keto reductase family 1, member D1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:66,154,246...66,187,505
Ensembl chr 4:66,154,248...66,186,372
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Alkbh4
alkB homolog 4, lysine demethylase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,524,030...20,529,947
Ensembl chr12:20,524,030...20,529,947
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Amph
amphiphysin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:45,739,385...45,982,905
Ensembl chr17:45,739,395...45,983,315
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Ankib1
ankyrin repeat and IBR domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
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Ankmy2
ankyrin repeat and MYND domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:52,888,959...52,930,343
Ensembl chr 6:52,888,963...52,930,394
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Ankrd7
ankyrin repeat domain 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:47,312,270...47,336,754
Ensembl chr 4:47,318,420...47,336,753
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Anln
anillin, actin binding protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
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Aoah
acyloxyacyl hydrolase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:43,808,110...44,049,458
Ensembl chr17:43,809,638...44,049,148
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Ap1s1
adaptor related protein complex 1 subunit sigma 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,625,267...19,635,792
Ensembl chr12:19,625,332...19,756,713
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Ap4m1
adaptor related protein complex 4 subunit mu 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,049,766...17,055,954
Ensembl chr12:17,049,777...17,058,026
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Aqp1
aquaporin 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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Arf5
ADP-ribosylation factor 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,038,521...57,041,447
Ensembl chr 4:57,038,521...57,041,441
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Arl4a
ADP-ribosylation factor like GTPase 4A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:57,079,496...57,084,156
Ensembl chr 6:57,078,812...57,085,066
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Armc10
armadillo repeat containing 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:13,399,004...13,414,594
Ensembl chr 4:13,395,207...13,414,548
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Arpc1a
actin related protein 2/3 complex, subunit 1A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,502,496...9,525,304
Ensembl chr12:9,502,501...9,525,330
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Arpc1b
actin related protein 2/3 complex, subunit 1B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,482,176...9,495,772
Ensembl chr12:9,480,831...9,495,747
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Asb15
ankyrin repeat and SOCS box containing 15
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:53,021,553...53,050,846
Ensembl chr 4:53,031,692...53,049,928
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Asb4
ankyrin repeat and SOCS box-containing 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:33,506,992...33,544,630
Ensembl chr 4:33,506,992...33,544,630
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Asl
argininosuccinate lyase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
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Asns
asparagine synthetase (glutamine-hydrolyzing)
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423
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Asz1
ankyrin repeat, SAM and basic leucine zipper domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:46,400,485...46,456,085
Ensembl chr 4:46,400,485...46,456,085
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Atp5mf
ATP synthase membrane subunit f
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,421,665...9,428,236
Ensembl chr12:9,421,579...9,428,236
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Atp6v0a4
ATPase H+ transporting V0 subunit a4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:66,760,163...66,842,126
Ensembl chr 4:66,760,159...66,842,110
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Atp6v1f
ATPase H+ transporting V1 subunit F
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,067,666...58,070,628
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Atxn7l1
ataxin 7-like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:49,759,876...49,982,323
Ensembl chr 6:49,759,883...49,982,320
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Auts2
activator of transcription and developmental regulator AUTS2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:24,104,187...25,194,123
Ensembl chr12:24,104,192...25,194,416
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Avl9
AVL9 cell migration associated
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,961,493...86,008,347
Ensembl chr 4:85,961,635...86,008,791
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Azgp1
alpha-2-glycoprotein 1, zinc-binding
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:16,930,990...16,939,333
Ensembl chr12:16,931,024...16,939,091
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Baiap2l1
BAR/IMD domain containing adaptor protein 2 like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:10,250,434...10,339,937
Ensembl chr12:10,250,473...10,339,928
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Baz1b
bromodomain adjacent to zinc finger domain, 1B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,431,985...21,489,956
Ensembl chr12:21,431,985...21,490,426
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Bbs9
Bardet-Biedl syndrome 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
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Bcap29
B-cell receptor-associated protein 29
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:48,182,702...48,222,698
Ensembl chr 6:48,182,706...48,222,720
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Bcl7b
BAF chromatin remodeling complex subunit BCL7B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,496,860...21,510,079
Ensembl chr12:21,496,856...21,510,202
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Bet1
Bet1 golgi vesicular membrane trafficking protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:32,116,232...32,126,592
Ensembl chr 4:32,116,235...32,126,617
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Bhlha15
basic helix-loop-helix family, member a15
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:10,420,465...10,424,641
Ensembl chr12:10,420,467...10,424,713
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Blvra
biliverdin reductase A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:114,340,778...114,366,048
Ensembl chr 3:114,340,838...114,366,033
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Bmper
BMP-binding endothelial regulator
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:21,732,225...21,977,261
Ensembl chr 8:21,732,225...21,977,256
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Bmt2
base methyltransferase of 25S rRNA 2 homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:41,881,630...41,945,472
Ensembl chr 4:41,879,993...41,945,539
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Bpgm
bisphosphoglycerate mutase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581
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Braf
B-Raf proto-oncogene, serine/threonine kinase
onset
ISO
DNA:mutation:cds:p.V600E(human) ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar RGD
PMID:28299358 PMID:25346165
RGD:11567238
NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
G
Bri3
brain protein I3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:10,341,007...10,364,655
Ensembl chr12:10,341,011...10,364,735
G
Bud23
BUD23, rRNA methyltransferase and ribosome maturation factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,629,551...21,640,758
Ensembl chr12:21,629,536...21,640,751
G
Bud31
BUD31 homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,462,838...9,470,387
Ensembl chr12:9,462,441...9,470,509
G
Bzw2
basic leucine zipper and W2 domains 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:52,828,069...52,888,599
Ensembl chr 6:52,827,661...52,888,628
G
C14h7orf57
similar to human chromosome 7 open reading frame 57
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:83,748,478...83,768,293
Ensembl chr14:83,748,478...83,767,435
G
C17h7orf25
similar to human chromosome 7 open reading frame 25
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:50,543,231...50,549,880
Ensembl chr17:50,542,858...50,549,976
G
Cacna2d1
calcium voltage-gated channel auxiliary subunit alpha2delta 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:18,950,611...19,374,969
Ensembl chr 4:18,951,002...19,374,969
G
Cadps2
calcium dependent secretion activator 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:51,780,415...52,309,641
Ensembl chr 4:51,781,053...52,309,829
G
Calcr
calcitonin receptor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,661,270...31,736,392
Ensembl chr 4:31,661,273...31,736,392
G
Cald1
caldesmon 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,265,781...63,446,938
Ensembl chr 4:63,265,942...63,446,932
G
Caln1
calneuron 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:25,811,743...26,303,670
Ensembl chr12:25,819,628...26,303,344
G
Calu
calumenin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,949,086...57,976,589
Ensembl chr 4:57,948,997...57,976,593
G
Camk2b
calcium/calmodulin-dependent protein kinase II beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994
G
Capza2
capping actin protein of muscle Z-line subunit alpha 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:45,978,142...46,014,032
Ensembl chr 4:45,977,807...46,013,864
G
Casd1
CAS1 domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:32,659,196...32,739,228
Ensembl chr 4:32,658,748...32,739,202
G
Castor2
cytosolic arginine sensor for mTORC1 subunit 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,577,504...22,620,182
Ensembl chr12:22,577,512...22,620,182
G
Cav1
caveolin 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
G
Cav2
caveolin 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:45,616,766...45,624,144
Ensembl chr 4:45,616,712...45,624,244
G
Cbll1
Cbl proto-oncogene like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:48,071,190...48,086,174
Ensembl chr 6:48,071,190...48,086,444
G
Cbx3
chromobox 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:80,545,450...80,559,284
Ensembl chr 4:80,546,010...80,559,283
G
Ccdc126
coiled-coil domain containing 126
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:78,297,625...78,318,655
Ensembl chr 4:78,297,551...78,318,655
G
Ccdc136
coiled-coil domain containing 136
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,997,825...58,027,598
Ensembl chr 4:57,997,853...58,027,646
G
Ccdc146
coiled-coil domain containing 146
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:13,662,766...13,811,619
Ensembl chr 4:13,662,766...13,811,608
G
Ccdc71l
coiled-coil domain containing 71-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:48,960,020...48,964,112
Ensembl chr 6:48,960,191...48,960,841 Ensembl chr 6:48,960,191...48,960,841
G
Ccl24
C-C motif chemokine ligand 24
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,100,835...21,104,832
Ensembl chr12:21,100,835...21,104,893
G
Ccl26
C-C motif chemokine ligand 26
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,109,384...21,114,336
Ensembl chr12:21,109,421...21,114,335
G
Ccm2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
G
Cct6a
chaperonin containing TCP1 subunit 6A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,872,736...26,883,125
Ensembl chr12:26,872,574...26,883,337
G
Cd36
CD36 molecule
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:17,317,343...17,410,084
Ensembl chr 4:17,354,466...17,513,903
G
Cdca7l
cell division cycle associated 7 like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:138,794,228...138,839,888
G
Cdhr3
cadherin-related family member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:49,641,833...49,702,016
Ensembl chr 6:49,641,813...49,702,017
G
Cdk13
cyclin-dependent kinase 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:47,251,145...47,344,675
Ensembl chr17:47,251,163...47,341,721
G
Cdk14
cyclin-dependent kinase 14
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:28,666,416...29,258,865
Ensembl chr 4:28,666,843...29,258,861
G
Cdk6
cyclin-dependent kinase 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,637,650...30,829,688
Ensembl chr 4:30,646,460...30,829,634
G
Cep41
centrosomal protein 41
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,271,218...59,312,343
Ensembl chr 4:59,271,218...59,310,668
G
Cfap69
cilia and flagella associated protein 69
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:28,379,604...28,452,562
Ensembl chr 4:28,375,996...28,450,698
G
Cftr
CF transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
Chchd2
coiled-coil-helix-coiled-coil-helix domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,828,738...26,834,762
Ensembl chr12:26,828,736...26,834,755
G
Chchd3
coiled-coil-helix-coiled-coil-helix domain containing 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:61,360,352...61,616,850
Ensembl chr 4:61,360,353...61,616,847
G
Chn2
chimerin 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:83,148,616...83,407,711
Ensembl chr 4:83,147,983...83,407,709
G
Chrm2
cholinergic receptor, muscarinic 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:65,015,408...65,149,104
Ensembl chr 4:65,014,144...65,149,103
G
Cldn12
claudin 12
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:28,522,659...28,533,647
Ensembl chr 4:28,522,678...28,533,801
G
Cldn15
claudin 15
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,698,167...19,708,419
Ensembl chr12:19,698,337...19,706,819
G
Cldn3
claudin 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,708,538...21,710,010
Ensembl chr12:21,708,398...21,711,001
G
Cldn4
claudin 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,751,638...21,753,436
Ensembl chr12:21,751,331...21,753,436
G
Clec2l
C-type lectin domain family 2, member L
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,392,118...67,414,539
Ensembl chr 4:67,397,873...67,414,537
G
Clip2
CAP-GLY domain containing linker protein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,163,044...22,227,023
Ensembl chr12:22,163,218...22,227,023
G
Cnot4
CCR4-NOT transcription complex, subunit 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,712,770...63,814,355
Ensembl chr 4:63,712,770...63,814,360
G
Cnpy4
canopy FGF signaling regulator 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,064,642...17,070,755
Ensembl chr12:17,064,642...17,070,043
G
Cobl
cordon-bleu WH2 repeat protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:86,828,137...87,060,682
Ensembl chr14:86,828,139...87,060,800
G
Cog5
component of oligomeric golgi complex 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:48,242,470...48,545,185
Ensembl chr 6:48,242,482...48,529,009
G
Col1a2
collagen type I alpha 2 chain
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
G
Col26a1
collagen type XXVI alpha 1 chain
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,792,693...19,938,556
Ensembl chr12:19,792,728...19,938,556
G
Copg2
COPI coat complex subunit gamma 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,366,086...59,501,591
Ensembl chr 4:59,366,086...59,501,618
G
Cops6
COP9 signalosome subunit 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,038,979...17,041,818
Ensembl chr12:17,038,979...17,046,371
G
Cpa1
carboxypeptidase A1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,257,417...59,263,544
Ensembl chr 4:59,257,417...59,263,544
G
Cpa2
carboxypeptidase A2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,160,357...59,183,677
Ensembl chr 4:59,160,357...59,183,674
G
Cpa4
carboxypeptidase A4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,188,284...59,212,255
Ensembl chr 4:59,188,284...59,212,255
G
Cpa5
carboxypeptidase A5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,229,754...59,249,503
Ensembl chr 4:59,230,964...59,249,490
G
Cped1
cadherin-like and PC-esterase domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:50,516,712...50,789,651
Ensembl chr 4:50,516,819...50,788,674
G
Cpsf4
cleavage and polyadenylation specific factor 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,429,765...9,445,586
Ensembl chr12:9,429,523...9,445,586
G
Cpvl
carboxypeptidase, vitellogenic-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,981,421...83,091,730
Ensembl chr 4:82,981,422...83,085,655
G
Crcp
CGRP receptor component
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,623,968...26,659,756
Ensembl chr12:26,623,976...26,768,225
G
Creb3l2
cAMP responsive element binding protein 3-like 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:65,907,570...66,112,078
Ensembl chr 4:65,907,655...66,023,763
G
Creb5
cAMP responsive element binding protein 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,393,091...82,794,320
Ensembl chr 4:82,393,730...82,790,325
G
Crhr2
corticotropin releasing hormone receptor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
G
Crot
carnitine O-octanoyltransferase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:25,068,270...25,133,111
Ensembl chr 4:25,080,587...25,133,109
G
Crppa
CDP-L-ribitol pyrophosphorylase A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:53,120,264...53,397,030
Ensembl chr 6:53,121,438...53,397,028
G
Cttnbp2
cortactin binding protein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:46,800,975...46,964,681
Ensembl chr 4:46,800,981...46,964,631
G
Cux1
cut-like homeobox 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,107,062...20,425,868
Ensembl chr12:20,107,311...20,425,866
G
Cycs
cytochrome c, somatic
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054 Ensembl chr18:79,651,378...79,654,054
G
Cyp3a18
cytochrome P450, family 3, subfamily a, polypeptide 18
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:8,880,509...8,930,382
Ensembl chr12:8,880,528...8,930,381
G
Cyp3a2
cytochrome P450, family 3, subfamily a, polypeptide 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,207,978...9,230,064
Ensembl chr12:9,015,383...9,285,008
G
Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:16,806,222...16,846,428
Ensembl chr12:16,806,207...16,846,422
G
Cyp51
cytochrome P450, family 51
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,036,956...30,055,410
Ensembl chr 4:30,036,865...30,055,410
G
Cyren
cell cycle regulator of NHEJ
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,547,311...63,553,394
Ensembl chr 4:63,547,335...63,551,602
G
Dbf4
DBF4-CDC7 kinase regulatory subunit
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:25,676,570...25,701,152
Ensembl chr 4:25,676,634...25,701,066
G
Dbnl
drebrin-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,666,115...80,681,155
Ensembl chr14:80,666,124...80,681,155
G
Ddc
dopa decarboxylase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:86,378,685...86,469,189
Ensembl chr14:86,378,685...86,469,208
G
Ddx56
DEAD-box helicase 56
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,112,008...81,122,331
Ensembl chr14:81,112,012...81,122,333
G
Dennd2a
DENN domain containing 2A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:68,233,016...68,332,235
Ensembl chr 4:68,233,958...68,332,105
G
Dgkb
diacylglycerol kinase, beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:54,640,948...55,397,210
Ensembl chr 6:54,641,614...55,397,043
G
Dgki
diacylglycerol kinase, iota
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:65,410,878...65,872,733
Ensembl chr 4:65,420,108...65,872,733
G
Dld
dihydrolipoamide dehydrogenase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
G
Dlx5
distal-less homeobox 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:34,999,139...35,003,504
Ensembl chr 4:34,999,139...35,003,407
G
Dlx6
distal-less homeobox 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:34,984,264...34,989,926
Ensembl chr 4:34,984,232...34,991,343
G
Dmtf1
cyclin D binding myb-like transcription factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:24,909,937...24,950,786
Ensembl chr 4:24,910,534...24,950,967
G
Dnah11
dynein, axonemal, heavy chain 11
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
G
Dnajb9
DnaJ heat shock protein family (Hsp40) member B9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:61,270,385...61,276,795
Ensembl chr 6:61,269,913...61,275,063
G
Dnajc2
DnaJ heat shock protein family (Hsp40) member C2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:13,270,239...13,297,438
Ensembl chr 4:13,270,191...13,297,431
G
Dnajc30
DnaJ heat shock protein family (Hsp40) member C30
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408
G
Dock4
dedicator of cytokinesis 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:57,512,929...57,902,597
Ensembl chr 6:57,512,908...57,901,855
G
Dpy19l1
dpy-19 like C-mannosyltransferase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:22,933,163...23,021,461
Ensembl chr 8:22,933,163...23,021,751
G
Dtx2
deltex E3 ubiquitin ligase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,643,289...20,682,908
Ensembl chr12:20,643,297...20,682,885
G
Dus4l
dihydrouridine synthase 4-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:48,228,111...48,242,553
Ensembl chr 6:48,228,111...48,242,449
G
Dync1i1
dynein cytoplasmic 1 intermediate chain 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:33,852,597...34,166,159
Ensembl chr 4:33,852,927...34,166,149
G
Eepd1
endonuclease/exonuclease/phosphatase family domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:23,957,258...24,064,343
Ensembl chr 8:23,957,255...24,064,340
G
Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:91,176,979...91,349,722
Ensembl chr14:91,177,067...91,344,382
G
Eif4h
eukaryotic translation initiation factor 4H
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,083,155...22,099,876
Ensembl chr12:22,082,835...22,099,876
G
Elapor2
endosome-lysosome associated apoptosis and autophagy regulator family member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:24,613,163...24,805,729
Ensembl chr 4:24,613,163...24,805,729
G
Elmo1
engulfment and cell motility 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:44,286,495...44,822,668
Ensembl chr17:44,286,485...44,822,788
G
Eln
elastin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
G
Epdr1
ependymin related 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:45,333,932...45,358,597
Ensembl chr17:45,333,956...45,358,594
G
Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
G
Epo
erythropoietin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
G
Etv1
ETS variant transcription factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:55,590,149...55,681,784
Ensembl chr 6:55,590,234...55,681,775
G
Evx1
even-skipped homeobox 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,416,590...81,420,967
Ensembl chr 4:81,416,590...81,420,967
G
Exoc4
exocyst complex component 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:61,807,706...62,584,316
Ensembl chr 4:61,807,761...62,585,723
G
Fam133b
family with sequence similarity 133, member B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,589,646...30,616,291
Ensembl chr 4:30,589,635...30,616,040
G
Fam180a
family with sequence similarity 180, member A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,992,867...64,008,047
Ensembl chr 4:63,992,867...64,008,047
G
Fam185a
family with sequence similarity 185, member A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:13,542,022...13,662,967
Ensembl chr 4:13,608,464...13,662,967
G
Fam221a
family with sequence similarity 221, member A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:78,337,296...78,358,918
Ensembl chr 4:78,337,296...78,358,909
G
Fam3c
FAM3 metabolism regulating signaling molecule C
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:50,839,929...50,887,276
Ensembl chr 4:50,838,818...50,888,078
G
Fbxl13
F-box and leucine-rich repeat protein 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:13,414,880...13,607,079
Ensembl chr 4:13,414,926...13,641,494
G
Fbxo24
F-box protein 24
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,072,668...19,083,067
Ensembl chr12:19,072,716...19,083,067
G
Ferd3l
Fer3-like bHLH transcription factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:50,645,379...50,646,268
Ensembl chr 6:50,645,379...50,646,268
G
Fezf1
Fez family zinc finger 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:51,762,751...51,766,078
Ensembl chr 4:51,762,751...51,766,078
G
Fgl2
fibrinogen-like 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:13,710,566...13,716,207
Ensembl chr 4:13,710,575...13,716,207
G
Fignl1
fidgetin-like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:86,368,670...86,381,728
Ensembl chr14:86,368,675...86,377,455
G
Fis1
fission, mitochondrial 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,708,560...19,723,392
Ensembl chr12:19,708,558...19,723,377
G
Fkbp14
FKBP prolyl isomerase 14
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:83,705,531...83,721,515
Ensembl chr 4:83,705,652...83,721,528
G
Fkbp6
FKBP prolyl isomerase family member 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,318,251...21,390,350
Ensembl chr12:21,319,568...21,390,350
G
Fkbp9
FKBP prolyl isomerase 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:86,106,256...86,156,723
Ensembl chr 4:86,106,282...86,156,721
G
Flnc
filamin C
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,034,088...58,061,882
Ensembl chr 4:58,034,189...58,061,844
G
Fmc1
formation of mitochondrial complex V assembly factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,274,104...67,282,140
Ensembl chr 4:67,274,104...67,282,140
G
Foxp2
forkhead box P2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:43,133,827...43,712,442
Ensembl chr 4:43,133,912...43,711,683
G
Fscn3
fascin actin-bundling protein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,042,797...57,052,224
Ensembl chr 4:57,042,797...57,052,404
G
Fzd1
frizzled class receptor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:29,310,303...29,314,701
Ensembl chr 4:29,310,091...29,312,643 Ensembl chr 4:29,310,091...29,312,643
G
Fzd9
frizzled class receptor 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,427,084...21,429,398
Ensembl chr12:21,427,084...21,429,398
G
Gal3st4
galactose-3-O-sulfotransferase 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,267,963...17,276,951
Ensembl chr12:17,267,963...17,276,833
G
Galnt17
polypeptide N-acetylgalactosaminyltransferase 17
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:25,323,230...25,781,897
Ensembl chr12:25,322,701...25,781,290
G
Garin1a
golgi associated RAB2 interactor 1A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,880,019...57,890,824
Ensembl chr 4:57,880,019...57,890,820
G
Garin1b
golgi associated RAB2 interactor 1B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,915,184...57,938,593
Ensembl chr 4:57,920,790...57,938,591
G
Gars1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:84,171,596...84,212,609
Ensembl chr 4:84,171,596...84,212,609
G
Gatad1
GATA zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107
G
Gcc1
GRIP and coiled-coil domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,030,817...57,042,682
Ensembl chr 4:57,032,314...57,042,663
G
Gck
glucokinase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,785,060...80,829,842
Ensembl chr14:80,785,060...80,826,995
G
Ggct
gamma-glutamyl cyclotransferase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:84,122,921...84,129,327
Ensembl chr 4:84,123,118...84,129,277
G
Ghrhr
growth hormone releasing hormone receptor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:84,498,159...84,532,851
Ensembl chr 4:84,500,212...84,532,776
G
Gigyf1
GRB10 interacting GYF protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,166,070...19,181,570
Ensembl chr12:19,166,088...19,175,023
G
Gjc3
gap junction protein, gamma 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:16,899,846...16,912,309
Ensembl chr12:16,896,813...16,964,246
G
Gli3
GLI family zinc finger 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712
G
Gnai1
G protein subunit alpha i1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:16,814,000...16,898,119
Ensembl chr 4:16,814,001...16,896,417
G
Gnat3
G protein subunit alpha transducin 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:17,162,500...17,212,283
Ensembl chr 4:17,162,490...17,212,283
G
Gnb2
G protein subunit beta 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,159,002...19,164,021
Ensembl chr12:19,158,973...19,164,019
G
Gng11
G protein subunit gamma 11
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:32,023,003...32,028,443
Ensembl chr 4:32,023,003...32,028,442
G
Gngt1
G protein subunit gamma transducin 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:32,006,267...32,009,252
Ensembl chr 4:32,006,267...32,009,252
G
Gpc2
glypican 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,277,875...17,284,297
Ensembl chr12:17,277,875...17,284,208
G
Gpnmb
glycoprotein nmb
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:78,010,247...78,031,491
Ensembl chr 4:78,010,197...78,049,367
G
Gpr141
G protein-coupled receptor 141
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:45,117,818...45,180,053
Ensembl chr17:45,117,812...45,180,027
G
Gpr22
G protein-coupled receptor 22
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:48,309,619...48,317,864
Ensembl chr 6:48,310,505...48,317,486
G
Gpr37
G protein-coupled receptor 37
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:54,138,860...54,160,927
Ensembl chr 4:54,138,870...54,161,001
G
Gpr85
G protein-coupled receptor 85
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:42,100,138...42,109,584
Ensembl chr 4:42,102,941...42,109,566
G
Grb10
growth factor receptor bound protein 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:86,495,051...86,602,800
Ensembl chr14:86,495,054...86,602,806
G
Grm3
glutamate metabotropic receptor 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:24,364,854...24,643,972
Ensembl chr 4:24,365,115...24,609,804
G
Grm8
glutamate metabotropic receptor 8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:55,805,762...56,731,690
Ensembl chr 4:55,805,955...56,730,831
G
Gsap
gamma-secretase activating protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:13,813,046...13,907,875
Ensembl chr 4:13,813,046...13,907,814
G
Gsdme
gasdermin E
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:79,258,799...79,321,129
Ensembl chr 4:79,257,804...79,320,806
G
Gtf2i
general transcription factor II I
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,400,933...22,476,243
Ensembl chr12:22,401,431...22,476,243
G
Gtf2ird1
GTF2I repeat domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,254,113...22,361,052
Ensembl chr12:22,254,221...22,361,040
G
Gtf2ird2
GTF2I repeat domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,497,767...22,536,455
Ensembl chr12:22,498,091...22,536,263
G
Gtpbp10
GTP binding protein 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:28,476,857...28,494,375
Ensembl chr 4:28,476,857...28,494,375
G
Gusb
glucuronidase, beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905
G
H2az2
H2A.Z variant histone 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,293,304...81,312,209
Ensembl chr14:81,293,299...81,312,144
G
Hbp1
HMG-box transcription factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:48,529,633...48,555,775
Ensembl chr 6:48,529,372...48,555,787
G
Hdac9
histone deacetylase 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:50,762,074...51,624,311
Ensembl chr 6:50,763,590...51,625,333
G
Hecw1
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:50,671,239...51,084,536
Ensembl chr17:50,670,954...51,080,720
G
Hepacam2
HEPACAM family member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,446,195...31,480,859
Ensembl chr 4:31,446,169...31,480,953
G
Herpud2
HERPUD family member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:23,573,374...23,618,380
Ensembl chr 8:23,573,379...23,617,874
G
Hgf
hepatocyte growth factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
G
Hibadh
3-hydroxyisobutyrate dehydrogenase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,649,180...81,747,244
Ensembl chr 4:81,649,175...81,780,617
G
Hilpda
hypoxia inducible lipid droplet-associated
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,871,088...57,874,048
Ensembl chr 4:57,871,110...57,874,557
G
Hip1
huntingtin interacting protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,133,364...21,267,796
Ensembl chr12:21,133,406...21,267,725
G
Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
G
Hotairm1
Hoxa transcript antisense RNA, myeloid-specific 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,258,793...81,262,291
G
Hoxa1
homeobox A1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,255,814...81,258,587
Ensembl chr 4:81,255,883...81,258,504
G
Hoxa10
homeobox A10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,331,591...81,340,878
Ensembl chr 4:81,331,591...81,340,919
G
Hoxa11
homeobox A11
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,342,527...81,346,189
Ensembl chr 4:81,342,528...81,346,232
G
Hoxa11-as
HOXA11 antisense RNA
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,346,416...81,350,190
Ensembl chr 4:81,346,416...81,350,179
G
Hoxa13
homeo box A13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,358,956...81,361,091
Ensembl chr 4:81,358,956...81,361,091
G
Hoxa2
homeobox A2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,262,668...81,266,970
Ensembl chr 4:81,262,768...81,265,044
G
Hoxa3
homeobox A3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,269,243...81,313,218
Ensembl chr 4:81,269,243...81,313,218
G
Hoxa4
homeo box A4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,289,677...81,291,685
Ensembl chr 4:81,289,682...81,291,685
G
Hoxa5
homeo box A5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,302,341...81,306,234
Ensembl chr 4:81,302,353...81,306,234
G
Hoxa6
homeobox A6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,304,918...81,313,184
Ensembl chr 4:81,306,407...81,308,850
G
Hoxa7
homeobox A7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,315,730...81,317,629
Ensembl chr 4:81,314,625...81,317,659
G
Hoxa9
homeobox A9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,323,235...81,329,344
Ensembl chr 4:81,323,382...81,326,358
G
Hspb1
heat shock protein family B (small) member 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743
G
Hus1
HUS1 checkpoint clamp component
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:83,688,702...83,703,466
Ensembl chr14:83,688,708...83,703,442
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Hyal4
hyaluronidase 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:53,256,179...53,274,819
Ensembl chr 4:53,256,179...53,274,819
G
Hycc1
hyccin PI4KA lipid kinase complex subunit 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:11,132,224...11,239,120
Ensembl chr 4:11,132,385...11,239,113
G
Ifrd1
interferon-related developmental regulator 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:57,269,395...57,317,833
Ensembl chr 6:57,269,384...57,288,990
G
Ift22
intraflagellar transport 22
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,759,072...19,768,859
Ensembl chr12:19,761,790...19,768,809
G
Ift56
intraflagellar transport 56
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:67,090,660...67,147,903
G
Igf2bp3
insulin-like growth factor 2 mRNA binding protein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:78,060,494...78,195,007
Ensembl chr 4:78,060,494...78,194,865
G
Igfbp1
insulin-like growth factor binding protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:82,047,415...82,052,482
Ensembl chr14:82,047,415...82,052,482
G
Igfbp3
insulin-like growth factor binding protein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
G
Ikzf1
IKAROS family zinc finger 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:86,255,065...86,340,839
Ensembl chr14:86,255,065...86,342,416
G
Il6
interleukin 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
G
Immp2l
inner mitochondrial membrane peptidase subunit 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:58,070,035...58,970,165
Ensembl chr 6:58,070,283...58,969,840
G
Impdh1
inosine monophosphate dehydrogenase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076
G
Ing3
inhibitor of growth family, member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:50,477,954...50,505,168
Ensembl chr 4:50,477,962...50,503,715
G
Inhba
inhibin subunit beta A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:49,091,635...49,111,573
Ensembl chr17:49,095,920...49,108,982
G
Inmt
indolethylamine N-methyltransferase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:84,318,197...84,322,493
Ensembl chr 4:84,318,197...84,322,493
G
Iqub
IQ motif and ubiquitin domain containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:52,931,768...52,993,795
Ensembl chr 4:52,931,767...52,993,834
G
Irf5
interferon regulatory factor 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,127,577...58,140,665
Ensembl chr 4:58,127,640...58,139,267
G
Itgb8
integrin subunit beta 8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:140,125,002...140,208,261
Ensembl chr 6:140,127,203...140,208,476
G
Itprid1
ITPR interacting domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,015,264...85,172,457
Ensembl chr 4:85,015,190...85,172,331
G
Jazf1
JAZF zinc finger 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,879,501...82,183,237
Ensembl chr 4:81,881,061...82,183,100
G
Kbtbd2
kelch repeat and BTB domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:86,027,947...86,050,266
Ensembl chr 4:86,027,947...86,050,211
G
Kcnd2
potassium voltage-gated channel subfamily D member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:49,775,812...50,277,746
Ensembl chr 4:49,776,246...50,277,728
G
Kcp
kielin cysteine rich BMP regulator
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,082,856...58,118,170
Ensembl chr 4:58,082,857...58,109,768
G
Kctd7
potassium channel tetramerization domain containing 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138
G
Kdm7a
lysine demethylase 7A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,899,407...67,974,264
Ensembl chr 4:67,904,307...67,966,998
G
Kiaa1549
KIAA1549 homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:66,840,674...66,968,407
Ensembl chr 4:66,760,162...66,968,436
G
Klf14
KLF transcription factor 14
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,554,011...59,556,933
Ensembl chr 4:59,554,011...59,556,933
G
Klhdc10
kelch domain containing 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,021,300...59,079,118
Ensembl chr 4:59,021,310...59,074,941
G
Klhl7
kelch-like family member 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
G
Klrg2
killer cell lectin like receptor G2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,360,216...67,374,867
Ensembl chr 4:67,363,919...67,374,147
G
Kmt2e
lysine methyltransferase 2E
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:11,658,218...11,727,373
Ensembl chr 4:11,658,979...11,727,373
G
Kpna7
karyopherin subunit alpha 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,576,378...9,635,247
Ensembl chr12:9,576,378...9,612,833
G
Krit1
KRIT1, ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,299,203...30,333,366
Ensembl chr 4:30,299,203...30,333,359
G
Lamb1
laminin subunit beta 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:47,835,492...47,902,585
Ensembl chr 6:47,835,525...47,902,585
G
Lamtor4
late endosomal/lysosomal adaptor, MAPK and MTOR activator 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,258,656...17,262,478
Ensembl chr12:17,258,623...17,262,480
G
Lancl2
LanC like glutathione S-transferase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:87,441,821...87,483,707
Ensembl chr 4:87,441,823...87,482,800
G
Lat2
linker for activation of T cells family, member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,104,173...22,118,294
Ensembl chr12:22,104,219...22,118,288
G
Lep
leptin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
G
Lhfpl3
LHFPL tetraspan subfamily member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
G
Limk1
LIM domain kinase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,026,697...22,060,605
Ensembl chr12:22,026,672...22,060,606
G
Lmod2
leiomodin 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:53,067,428...53,075,124
Ensembl chr 4:53,067,428...53,075,120
G
Lmtk2
lemur tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:10,426,772...10,508,750
Ensembl chr12:10,426,777...10,508,750
G
LOC120095955
mucin-12-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,486,041...19,493,995
G
Lrch4
leucine rich repeats and calponin homology domain containing 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,057,582...19,072,573
Ensembl chr12:19,057,587...19,068,577
G
Lrguk
leucine-rich repeats and guanylate kinase domain containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:62,647,222...62,770,268
Ensembl chr 4:62,647,264...62,770,319
G
Lrrc17
leucine rich repeat containing 17
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:13,501,428...13,531,845
Ensembl chr 4:13,501,436...13,531,845
G
Lrrc4
leucine rich repeat containing 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,433,518...57,437,114
Ensembl chr 4:57,433,428...57,437,911
G
Lrrc72
leucine rich repeat containing 72
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:52,935,387...52,995,552
Ensembl chr 6:52,935,387...52,995,540
G
Lrrd1
leucine-rich repeats and death domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,263,147...30,293,119
Ensembl chr 4:30,264,862...30,293,173
G
Lrrn3
leucine rich repeat neuronal 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:58,489,060...58,520,322
Ensembl chr 6:58,489,010...58,520,330
G
Lrwd1
leucine-rich repeats and WD repeat domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,530,035...20,543,078
Ensembl chr12:20,530,012...20,549,536
G
Lsm5
LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,951,073...85,954,289
Ensembl chr 6:104,652,477...104,654,165 Ensembl chr 4:104,652,477...104,654,165
G
Lsm8
LSM8 homolog, U6 small nuclear RNA associated
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:47,306,259...47,312,125
Ensembl chr 4:47,306,295...47,314,293
G
Lsmem1
leucine-rich single-pass membrane protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:57,251,720...57,261,590
Ensembl chr 6:57,252,056...57,261,653
G
Luc7l2
LUC7-like 2 pre-mRNA splicing factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,287,593...67,347,986
Ensembl chr 4:67,287,640...67,347,964
G
Macc1
MET transcriptional regulator MACC1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:140,352,690...140,430,255
Ensembl chr 6:140,352,755...140,430,255
G
Magi2
membrane associated guanylate kinase, WW and PDZ domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,386,389...15,870,036
Ensembl chr 4:14,386,399...15,870,240
G
Malsu1
mitochondrial assembly of ribosomal large subunit 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:78,051,090...78,059,913
Ensembl chr 4:78,051,059...78,059,905
G
Matcap2
microtubule associated tyrosine carboxypeptidase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:20,921,637...20,971,076
Ensembl chr 8:20,921,244...20,971,069
G
Mblac1
metallo-beta-lactamase domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,071,465...17,072,736
Ensembl chr12:17,071,465...17,072,735
G
Mcm7
minichromosome maintenance complex component 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,042,207...17,049,470
Ensembl chr12:17,042,212...17,050,063
G
Mdfic
MyoD family inhibitor domain containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161
G
Mdh2
malate dehydrogenase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,894,269...20,907,225
Ensembl chr12:20,894,262...20,907,271
G
Meox2
mesenchyme homeobox 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:53,856,760...53,917,467
Ensembl chr 6:53,856,758...53,917,467
G
Mepce
methylphosphate capping enzyme
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:18,911,796...18,916,515
Ensembl chr12:18,911,796...18,916,514
G
Mest
mesoderm specific transcript
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,354,445...59,364,919
Ensembl chr 4:59,354,447...59,366,145
G
Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
G
Mettl27
methyltransferase like 27
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,757,545...21,766,698
Ensembl chr12:21,757,329...21,766,685
G
Mindy4
MINDY lysine 48 deubiquitinase 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:84,358,660...84,469,189
Ensembl chr 4:84,358,902...84,463,395
G
Mir106b
microRNA 106b
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,043,344...17,043,425
Ensembl chr12:17,043,344...17,043,425
G
Mir148a
microRNA 148a
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:80,333,762...80,333,858
Ensembl chr 4:80,333,762...80,333,858
G
Mir183
microRNA 183
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,788,614...58,788,723
Ensembl chr 4:58,788,614...58,788,723
G
Mir196b
microRNA 196b
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,330,487...81,330,571
Ensembl chr 4:81,330,487...81,330,571
G
Mir25
microRNA 25
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,042,932...17,043,015
Ensembl chr12:17,042,932...17,043,015
G
Mir29a
microRNA 29a
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,650,608...59,650,695
G
Mir29b1
microRNA 29b-1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,650,987...59,651,067
Ensembl chr 4:59,650,986...59,651,067
G
Mir489
microRNA 489
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,693,355...31,693,460
Ensembl chr 4:31,693,355...31,693,460
G
Mir93
microRNA 93
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,043,135...17,043,221
Ensembl chr12:17,043,135...17,043,221
G
Mir96
microRNA 96
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,788,411...58,788,516
Ensembl chr 4:58,788,411...58,788,516
G
Mkln1
muskelin 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,815,912...60,124,047
Ensembl chr 4:60,002,464...60,123,993
G
Mkrn1
makorin ring finger protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:68,175,908...68,197,216
Ensembl chr 4:68,175,909...68,197,165
G
Mlxipl
MLX interacting protein-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,541,608...21,577,120
Ensembl chr12:21,543,576...21,577,112
G
Mogat3
monoacylglycerol O-acyltransferase 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,668,703...19,669,420
Ensembl chr12:19,668,788...19,670,754
G
Mospd3
motile sperm domain containing 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,095,203...19,100,303
Ensembl chr12:19,095,242...19,099,477
G
Mplkip
M-phase specific PLK1 interacting protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204
G
Mrpl32
mitochondrial ribosomal protein L32
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:50,565,133...50,568,000
Ensembl chr17:50,565,055...50,568,010
G
Mrps17
mitochondrial ribosomal protein S17
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,948,535...26,951,828
Ensembl chr12:26,948,730...26,951,737 Ensembl chr12:26,948,730...26,951,737
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Mrps24
mitochondrial ribosomal protein S24
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,584,671...80,588,801
Ensembl chr14:80,584,673...80,588,871
G
Mterf1
mitochondrial transcription termination factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,226,345...30,233,402
Ensembl chr 4:30,226,343...30,233,584
G
Mtpn
myotrophin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:64,159,273...64,186,686
Ensembl chr 4:64,157,641...64,186,724
G
Mturn
maturin, neural progenitor differentiation regulator homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:83,807,528...83,828,494
Ensembl chr 4:83,807,579...83,824,950
G
Muc3
mucin 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,527,251...19,536,924
Ensembl chr12:19,527,321...19,538,522
G
Muc3a
mucin 3A, cell surface associated
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,450,679...19,454,753
G
Myl10
myosin light chain 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,969,174...19,982,627
Ensembl chr12:19,970,055...19,978,614
G
Myl7
myosin light chain 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,780,684...80,783,259
Ensembl chr14:80,779,776...80,783,244
G
Myo1g
myosin IG
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,386,701...81,401,843
Ensembl chr14:81,386,701...81,401,843
G
Nacad
NAC alpha domain containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781
G
Nampt
nicotinamide phosphoribosyltransferase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100
G
Napepld
N-acyl phosphatidylethanolamine phospholipase D
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:13,360,532...13,398,815
Ensembl chr 4:13,361,006...13,398,748
G
Ncf1
neutrophil cytosolic factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,485,382...22,494,647
Ensembl chr12:22,485,451...22,494,646
G
Ndufa5
NADH:ubiquinone oxidoreductase subunit A5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:52,997,327...53,005,685
Ensembl chr 4:52,995,546...53,005,598
G
Ndufb2
NADH:ubiquinone oxidoreductase subunit B2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:68,367,526...68,374,609
Ensembl chr15:46,536,062...46,536,851 Ensembl chr 4:46,536,062...46,536,851
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Neurod6
neuronal differentiation 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:84,846,659...84,849,905
Ensembl chr 4:84,846,231...84,849,999
G
Nfe2l3
NFE2 like bZIP transcription factor 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:80,506,756...80,534,629
Ensembl chr 4:80,506,756...80,534,629
G
Nipsnap2
nipsnap homolog 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,906,068...26,944,201
Ensembl chr12:26,911,723...26,944,166
G
Nme8
NME/NM23 family member 8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:45,237,022...45,304,948
Ensembl chr17:45,238,120...45,304,948
G
Nod1
nucleotide-binding oligomerization domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:84,060,871...84,111,668
Ensembl chr 4:84,060,880...84,111,404
G
Npc1l1
NPC1 like intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,071,448...81,091,113
Ensembl chr14:81,071,451...81,091,113
G
Npsr1
neuropeptide S receptor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:22,606,946...22,831,558
Ensembl chr 8:22,606,946...22,831,558
G
Nptx2
neuronal pentraxin 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:10,037,435...10,048,345
Ensembl chr12:10,037,435...10,048,345
G
Npvf
neuropeptide VF precursor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:79,712,358...79,716,275
Ensembl chr 4:79,712,520...79,716,236
G
Npy
neuropeptide Y
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
G
Nrcam
neuronal cell adhesion molecule
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:61,402,813...61,698,536
Ensembl chr 6:61,329,863...61,702,992
G
Nrf1
nuclear respiratory factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328
G
Nsun5
NOP2/Sun RNA methyltransferase 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,293,637...21,299,319
Ensembl chr12:21,293,645...21,299,272
G
Nt5c3a
5'-nucleotidase, cytosolic IIIA
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:86,161,642...86,204,656
Ensembl chr 4:86,161,643...86,204,628
G
Nudcd3
NudC domain containing 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,976,330...81,059,183
Ensembl chr14:80,976,328...81,058,962
G
Nup205
nucleoporin 205
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,854,934...63,920,852
Ensembl chr 4:63,854,783...63,920,844
G
Nup42
nucleoporin 42
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:10,985,554...11,002,591
Ensembl chr 4:10,985,554...11,002,591
G
Nupr2
nuclear protein 2, transcriptional regulator
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,800,123...26,803,228
Ensembl chr12:26,799,800...26,803,304
G
Nyap1
neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:18,956,192...18,967,624
Ensembl chr12:18,956,268...18,967,543
G
Ogdh
oxoglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,150,021...81,217,479
Ensembl chr14:81,150,091...81,217,479
G
Opn1sw
opsin 1, short wave sensitive
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,977,317...57,980,457
Ensembl chr 4:57,977,313...57,980,457
G
Orai2
ORAI calcium release-activated calcium modulator 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,500,308...20,520,428
Ensembl chr12:20,497,317...20,520,428
G
Orc5
origin recognition complex, subunit 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:12,548,007...12,612,611
Ensembl chr 4:12,548,007...12,612,568
G
Osbpl3
oxysterol binding protein-like 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:79,346,583...79,523,523
Ensembl chr 4:79,350,349...79,523,393
G
Pals2
protein associated with LIN7 2, MAGUK p55 family member
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:79,173,488...79,257,542
Ensembl chr 4:79,124,806...79,254,140
G
Parp12
poly (ADP-ribose) polymerase family, member 12
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,826,548...67,885,356
Ensembl chr 4:67,839,237...67,883,685
G
Pax4
paired box 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
G
Pclo
piccolo (presynaptic cytomatrix protein)
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:19,691,439...20,050,015
Ensembl chr 4:19,695,315...20,049,885
G
Pcolce
procollagen C-endopeptidase enhancer
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,084,191...19,090,508
Ensembl chr12:19,084,210...19,090,508
G
Pdap1
PDGFA associated protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,470,652...9,480,880
Ensembl chr12:9,470,574...9,535,374
G
Pde1c
phosphodiesterase 1C
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,300,858...85,777,948
Ensembl chr 4:85,300,858...85,863,219
G
Pdk4
pyruvate dehydrogenase kinase 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:33,591,796...33,601,798
Ensembl chr 4:33,589,799...33,601,850
G
Peg10
paternally expressed 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:32,842,441...32,855,639
Ensembl chr 4:32,848,493...32,852,621
G
Pex1
peroxisomal biogenesis factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921
G
Pgam2
phosphoglycerate mutase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,681,796...80,683,907
Ensembl chr14:80,681,776...80,683,940
G
Phkg1
phosphorylase kinase catalytic subunit gamma 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,838,822...26,854,547
Ensembl chr12:26,838,968...26,852,850
G
Phtf2
putative homeodomain transcription factor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,215,190...14,330,549
Ensembl chr 4:14,215,263...14,330,513
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:48,766,778...48,802,098
Ensembl chr 6:48,766,864...48,802,043
G
Pilra
paired immunoglobin-like type 2 receptor alpha
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,787,169...17,798,149
Ensembl chr12:17,787,127...17,798,094
G
Pkd1l1
polycystin 1 like 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:83,552,964...83,670,062
Ensembl chr14:83,545,469...83,638,498
G
Plekha8
pleckstrin homology domain containing A8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:83,723,470...83,774,081
Ensembl chr 4:83,723,561...83,774,081
G
Plod3
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,676,384...19,686,945
Ensembl chr12:19,676,386...19,686,960
G
Plxna4
plexin A4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:60,720,246...61,162,206
Ensembl chr 4:60,720,255...61,162,206
G
Pmpcb
peptidase, mitochondrial processing subunit beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:13,297,583...13,310,363
Ensembl chr 4:13,297,559...13,310,367
G
Pnpla8
patatin-like phospholipase domain containing 8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:61,329,810...61,391,736
Ensembl chr 6:61,329,810...61,391,734
G
Podxl
podocalyxin-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:60,135,124...60,181,829
Ensembl chr 4:60,135,109...60,181,899
G
Pold2
DNA polymerase delta 2, accessory subunit
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,748,971...80,755,188
Ensembl chr14:80,748,974...80,755,160
G
Polm
DNA polymerase mu
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,707,075...80,716,677
Ensembl chr14:80,706,345...80,717,086
G
Polr1f
RNA polymerase I subunit F
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:50,053,289...50,070,514
Ensembl chr 6:50,053,289...50,070,514
G
Polr2j
RNA polymerase II subunit J
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,543,038...20,548,590
Ensembl chr12:20,543,038...20,548,594
G
Pom121
POM121 transmembrane nucleoporin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,273,713...21,294,299
Ensembl chr12:21,276,913...21,294,294
G
Pom121l12
POM121 transmembrane nucleoporin-like 12
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:89,108,535...89,109,604
Ensembl chr14:89,108,572...89,109,408
G
Pon1
paraoxonase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
G
Pon2
paraoxonase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248
G
Pon3
paraoxonase 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:33,356,983...33,383,681
Ensembl chr 4:33,349,168...33,383,855
G
Pop7
POP7 homolog, ribonuclease P/MRP subunit
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,189,384...19,190,425
Ensembl chr12:19,189,138...19,190,674
G
Por
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,951,058...20,999,198
Ensembl chr12:20,951,058...20,999,245
G
Pot1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
G
Pou6f2
POU class 6 homeobox 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:46,472,182...46,886,796
Ensembl chr17:46,472,181...46,921,039
G
Ppia
peptidylprolyl isomerase A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601
G
Ppp1r17
protein phosphatase 1, regulatory subunit 17
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,213,595...85,230,607
Ensembl chr 4:85,213,887...85,230,603
G
Ppp1r35
protein phosphatase 1, regulatory subunit 35
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:18,915,909...18,919,253
G
Ppp1r3a
protein phosphatase 1, regulatory subunit 3A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:42,937,353...42,980,195
Ensembl chr 4:42,939,599...42,980,638
G
Ppp1r9a
protein phosphatase 1, regulatory subunit 9A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:32,970,501...33,292,360
Ensembl chr 4:33,024,450...33,286,907
G
Prkar2b
protein kinase cAMP-dependent type II regulatory subunit beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:48,563,659...48,653,933
Ensembl chr 6:48,563,662...48,653,933
G
Prkrip1
PRKR interacting protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,470,802...20,491,789
Ensembl chr12:20,470,820...20,489,115
G
Prps1l1
phosphoribosyl pyrophosphate synthetase 1-like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:51,684,960...51,686,650
Ensembl chr 6:51,684,948...51,687,291
G
Prr15
proline rich 15
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:83,432,002...83,435,582
Ensembl chr 4:83,431,758...83,437,436
G
Prrt4
proline-rich transmembrane protein 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,766,054...57,777,087
Ensembl chr 4:57,766,263...57,777,020
G
Psma2
proteasome 20S subunit alpha 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:50,554,536...50,564,923
Ensembl chr17:50,551,924...50,564,938
G
Psmc2
proteasome 26S subunit, ATPase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:13,255,850...13,270,160
Ensembl chr 4:13,255,856...13,270,185
G
Psph
phosphoserine phosphatase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074
G
Ptcd1
pentatricopeptide repeat domain 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,445,656...9,463,434
Ensembl chr12:9,445,714...9,463,508
G
Ptn
pleiotrophin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:65,293,731...65,375,572
Ensembl chr 4:65,293,734...65,375,456
G
Ptpn12
protein tyrosine phosphatase, non-receptor type 12
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,020,997...14,092,931
Ensembl chr 4:14,021,052...14,092,927
G
Ptprz1
protein tyrosine phosphatase, receptor type Z1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218
G
Purb
purine rich element binding protein B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,342,374...81,344,857
Ensembl chr14:81,336,448...81,351,432
G
Pus7
pseudouridine synthase 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:11,360,169...11,401,139
Ensembl chr 4:11,360,188...11,401,172
G
Pvrig
PVR related immunoglobulin domain containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,363,721...17,365,577
Ensembl chr12:17,364,080...17,365,280
G
Rab19
RAB19, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:68,157,159...68,166,889
Ensembl chr 4:68,156,881...68,166,886
G
Rabgef1
RAB guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,459,190...26,503,790
Ensembl chr12:26,460,175...26,503,744
G
Rala
RAS like proto-oncogene A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:47,092,163...47,145,192
Ensembl chr17:47,092,207...47,144,063
G
Ramp3
receptor activity modifying protein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,527,404...81,544,905
Ensembl chr14:81,527,385...81,544,902
G
Rapgef5
Rap guanine nucleotide exchange factor 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:138,445,184...138,679,943
Ensembl chr 6:138,437,991...138,679,936
G
Rasa4
RAS p21 protein activator 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,552,805...20,580,177
Ensembl chr12:20,552,806...20,580,147
G
Rbm28
RNA binding motif protein 28
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,722,946...57,761,935
Ensembl chr 4:57,722,223...57,761,653
G
Rbm48
RNA binding motif protein 48
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,559,063...30,569,409
Ensembl chr 4:30,559,087...30,569,406
G
Rcc1l
RCC1 like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,543,125...22,574,042
Ensembl chr12:22,543,734...22,574,036
G
Reln
reelin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
G
Rfc2
replication factor C subunit 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,120,449...22,133,576
Ensembl chr12:22,120,010...22,133,557
G
Rhbdd2
rhomboid domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,043,605...21,054,305
Ensembl chr12:21,043,608...21,054,289
G
Rint1
RAD50 interactor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:11,319,416...11,355,740
Ensembl chr 4:11,320,955...11,355,736
G
Rnf133
ring finger protein 133
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:52,140,584...52,143,357
Ensembl chr 4:52,140,247...52,143,379
G
Rnf148
ring finger protein 148
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:52,145,798...52,152,508
G
Rp9
RP9, pre-mRNA splicing factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:20,955,447...21,005,225
Ensembl chr 8:20,941,362...21,005,175
G
Rsbn1l
round spermatid basic protein 1-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,138,076...14,203,972
Ensembl chr 4:14,139,031...14,201,147
G
Rundc3b
RUN domain containing 3B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:25,462,543...25,599,477
Ensembl chr 4:25,462,752...25,599,471
G
Samd9
sterile alpha motif domain containing 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322
G
Samd9l1
sterile alpha motif domain containing 9 like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,362,054...31,376,412
Ensembl chr 4:31,361,669...31,376,415
G
Sap25
Sin3A-associated protein 25
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,055,762...19,057,425
Ensembl chr12:19,055,763...19,076,089
G
Sbds
Sbds, ribosome maturation factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
G
Scin
scinderin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:57,109,500...57,188,123
Ensembl chr 6:57,109,403...57,188,242
G
Scrn1
secernin 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:83,632,125...83,694,225
Ensembl chr 4:83,632,131...83,693,852
G
Sdhaf3
succinate dehydrogenase complex assembly factor 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:35,100,533...35,160,740
Ensembl chr 4:35,100,506...35,160,749
G
Sec61g
Sec61 translocon subunit gamma
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:90,899,766...90,906,143
Ensembl chr14:90,899,768...90,906,162
G
Sem1
SEM1 26S proteasome subunit
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:34,671,848...34,692,005
Ensembl chr 4:34,671,848...34,692,005
G
Sema3a
semaphorin 3A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:21,282,398...21,754,834
Ensembl chr 4:21,287,982...21,494,432
G
Sema3c
semaphorin 3C
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:17,583,212...17,747,234
Ensembl chr 4:17,583,212...17,746,534
G
Sema3d
semaphorin 3D
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:22,316,769...22,505,930
Ensembl chr 4:22,316,779...22,505,930
G
Sema3e
semaphorin 3E
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:20,297,534...20,555,287
Ensembl chr 4:20,299,718...20,555,229
G
Septin14
septin 14
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,975,283...27,005,588
Ensembl chr12:26,975,344...26,998,299
G
Septin7
septin 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:23,719,448...23,783,247
Ensembl chr 8:23,716,030...23,783,243
G
Serpine1
serpin family E member 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
G
Sfrp4
secreted frizzled-related protein 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:45,278,867...45,330,806
Ensembl chr17:45,234,097...45,330,736
G
Sgce
sarcoglycan, epsilon
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:32,771,477...32,842,238
Ensembl chr 4:32,771,477...32,842,254
G
Sh2b2
SH2B adaptor protein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,427,057...20,456,845
Ensembl chr12:20,429,043...20,456,844
G
Skap2
src kinase associated phosphoprotein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:80,948,832...81,100,900
Ensembl chr 4:80,950,580...81,100,891
G
Slc12a9
solute carrier family 12, member 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
G
Slc13a1
solute carrier family 13 member 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:52,569,179...52,647,126
Ensembl chr 4:52,569,375...52,647,099
G
Slc13a4
solute carrier family 13 member 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,943,369...63,988,852
Ensembl chr 4:63,943,395...63,988,857
G
Slc25a13
solute carrier family 25 member 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:34,179,224...34,361,912
Ensembl chr 4:34,179,224...34,361,902
G
Slc25a40
solute carrier family 25, member 40
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:25,631,447...25,676,454
Ensembl chr 4:25,589,360...25,676,472
G
Slc26a3
solute carrier family 26 member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:48,023,892...48,064,829
Ensembl chr 6:48,023,892...48,064,772
G
Slc26a4
solute carrier family 26 member 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
G
Slc26a5
solute carrier family 26 member 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289
G
Slc35b4
solute carrier family 35 member B4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:62,776,993...62,799,013
Ensembl chr 4:62,776,993...62,799,003
G
Slc37a3
solute carrier family 37, member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:68,109,314...68,153,590
Ensembl chr 4:68,081,939...68,153,568
G
Smkr1
small lysine-rich protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,595,363...58,609,149
Ensembl chr 4:58,601,660...58,609,229
G
Smo
smoothened, frizzled class receptor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
G
Smurf1
SMAD specific E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,635,009...9,726,520
Ensembl chr12:9,635,025...9,726,519
G
Snd1
staphylococcal nuclease and tudor domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,095,205...57,494,501
Ensembl chr 4:57,095,208...57,530,843
G
Snora5c
small nucleolar RNA, H/ACA box 5C
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,487,218...81,487,354
Ensembl chr14:81,487,218...81,487,354
G
Snx10
sorting nexin 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:80,612,648...80,677,005
Ensembl chr 4:80,612,669...80,676,996
G
Snx13
sorting nexin 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:51,758,258...51,862,260
Ensembl chr 6:51,753,036...51,860,224
G
Sostdc1
sclerostin domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:53,051,336...53,055,510
Ensembl chr 6:53,051,354...53,055,579
G
Sp4
Sp4 transcription factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126
G
Sp8
Sp8 transcription factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:139,816,258...139,818,865
Ensembl chr 6:139,814,819...139,823,168 Ensembl chr 6:139,814,819...139,823,168
G
Spacdr
sperm acrosome developmental regulator
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:18,930,608...18,936,787
Ensembl chr12:18,914,398...18,952,008
G
Spam1
sperm adhesion molecule 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:53,302,745...53,312,913
Ensembl chr 4:53,302,745...53,312,908
G
Spmip4
sperm microtubule inner protein 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:79,663,375...79,688,291
Ensembl chr 4:79,663,376...79,689,072
G
Spmip7
sperm microtubule inner protein 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:86,030,427...86,085,644
Ensembl chr14:86,030,655...86,085,644
G
Sri
sorcin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:25,973,493...25,997,879
Ensembl chr 4:25,966,750...25,998,077
G
Srpk2
SRSF protein kinase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:11,464,684...11,655,993
Ensembl chr 4:11,464,674...11,655,990
G
Srrm3
serine/arginine repetitive matrix 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,808,878...20,878,557
Ensembl chr12:20,809,089...20,878,505
G
Srrt
serrate, RNA effector molecule
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,392,578...19,406,098
Ensembl chr12:19,392,625...19,406,095
G
Ssc4d
scavenger receptor cysteine rich family member with 4 domains
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,702,931...20,723,732
Ensembl chr12:20,702,950...20,718,706
G
Ssmem1
serine-rich single-pass membrane protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,128,730...59,139,029
Ensembl chr 4:59,128,730...59,145,007
G
ST7
suppression of tumorigenicity 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:46,041,655...46,289,745
Ensembl chr 4:46,042,236...46,289,740
G
Stag3
STAG3 cohesin complex component
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,284,677...17,314,936
Ensembl chr12:17,284,794...17,314,935
G
Stard3nl
STARD3 N-terminal like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:45,583,278...45,617,226
Ensembl chr17:45,583,266...45,617,226
G
Steap1
STEAP family member 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:28,276,972...28,287,484
Ensembl chr 4:28,276,909...28,287,479
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Steap2
STEAP2 metalloreductase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:28,347,769...28,368,177
Ensembl chr 4:28,348,362...28,375,791
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Steap4
STEAP4 metalloreductase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:26,077,182...26,099,859
Ensembl chr 4:26,054,671...26,099,859
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Stk31
serine threonine kinase 31
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:78,370,691...78,467,599
Ensembl chr 4:78,370,649...78,466,240
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Stmp1
short transmembrane mitochondrial protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,927,523...63,937,355
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Stra8
stimulated by retinoic acid 8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,601,443...63,624,777
Ensembl chr 4:63,601,604...63,624,771
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Strip2
striatin interacting protein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,536,034...58,578,279
Ensembl chr 4:58,536,055...58,578,291
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Stx1a
syntaxin 1A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,641,971...21,670,022
Ensembl chr12:21,641,969...21,669,930
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Styxl1
serine/threonine/tyrosine interacting-like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,907,410...20,940,232
Ensembl chr12:20,907,435...20,939,752
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Sugct
succinylCoA:glutarate-CoA transferase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:47,376,392...48,234,362
Ensembl chr17:47,376,521...48,234,376
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Sumf2
sulfatase modifying factor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,853,561...26,871,835
Ensembl chr12:26,853,200...26,871,816
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Sun3
Sad1 and UNC84 domain containing 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:83,710,136...83,748,982
Ensembl chr14:83,710,140...83,735,830
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Svopl
SVOP like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:66,697,550...66,751,699
Ensembl chr 4:66,698,177...66,758,978
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Sypl1
synaptophysin-like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:49,565,111...49,585,205
Ensembl chr 6:49,565,154...49,585,330
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Tac1
tachykinin, precursor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178
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Taf6
TATA-box binding protein associated factor 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,055,864...17,064,244
Ensembl chr12:17,055,873...17,064,247
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Tas2r118
taste receptor, type 2, member 118
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:52,449,208...52,450,107
Ensembl chr 4:52,449,208...52,450,107
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Tax1bp1
Tax1 binding protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,821,991...81,877,906
Ensembl chr 4:81,821,989...81,879,100
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Tbl2
transducin (beta)-like 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,517,600...21,531,896
Ensembl chr12:21,520,682...21,531,896
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Tbrg4
transforming growth factor beta regulator 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,481,977...81,490,781
Ensembl chr14:81,481,981...81,490,756
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Tbx20
T-box transcription factor 20
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:23,200,104...23,258,218
Ensembl chr 8:23,204,507...23,258,175
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Tbxas1
thromboxane A synthase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,664,963...67,837,096
Ensembl chr 4:67,665,007...67,837,096
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Tcrg
T cell receptor gamma chain
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:45,622,041...45,666,123
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Tecpr1
tectonin beta-propeller repeat containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:10,391,587...10,420,462
Ensembl chr12:10,391,696...10,419,611
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Tes
testin LIM domain protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:45,365,304...45,403,829
Ensembl chr 4:45,365,285...45,403,829
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Tex47
testis expressed 47
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:26,644,098...26,647,393
Ensembl chr 4:26,599,738...26,647,430
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Tfec
transcription factor EC
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:45,106,129...45,180,236
Ensembl chr 4:45,107,641...45,180,236
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Tfpi2
tissue factor pathway inhibitor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,981,786...31,986,707
Ensembl chr 4:31,982,178...31,986,600
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Tfr2
transferrin receptor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,107,673...19,124,622
Ensembl chr12:19,107,673...19,124,591
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Tmed4
transmembrane p24 trafficking protein 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,125,049...81,129,646
Ensembl chr14:81,125,053...81,129,631
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Tmem106b
transmembrane protein 106B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:41,328,125...41,347,315
Ensembl chr 4:41,327,994...41,345,619
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Tmem120a
transmembrane protein 120A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,942,243...20,950,908
Ensembl chr12:20,942,439...20,990,316
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Tmem130
transmembrane protein 130
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,837,055...9,862,843
Ensembl chr12:9,837,055...9,862,840
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Tmem140
transmembrane protein 140
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,536,477...63,547,478
Ensembl chr 4:63,536,168...63,548,455
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Tmem168
transmembrane protein 168
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:41,830,623...41,858,763
Ensembl chr 4:41,830,624...41,858,776
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Tmem196
transmembrane protein 196
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:140,895,556...140,959,501
Ensembl chr 6:140,896,576...140,957,435
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Tmem209
transmembrane protein 209
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,102,943...59,128,636
Ensembl chr 4:59,101,550...59,128,630
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Tmem213
transmembrane protein 213
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:66,825,040...66,831,070
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Tmem229a
transmembrane protein 229A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:53,440,287...53,445,286
Ensembl chr 4:53,443,831...53,444,940
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Tmem243
transmembrane protein 243
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:24,950,791...24,968,642
Ensembl chr 4:24,950,791...24,968,642
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Tmem248
transmembrane protein 248
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,430,775...26,457,105
Ensembl chr12:26,432,953...26,457,105
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Tmem270
transmembrane protein 270
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,793,631...21,798,723
Ensembl chr12:21,794,130...21,798,731
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Tmem60
transmembrane protein 60
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,210,029...14,214,884
Ensembl chr 4:14,210,029...14,215,063
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Tnpo3
transportin 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,142,954...58,220,365
Ensembl chr 4:58,143,001...58,220,433
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Tns3
tensin 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:83,173,649...83,405,671
Ensembl chr14:83,173,649...83,405,998
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Tomm7
translocase of outer mitochondrial membrane 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8718514 PMID:8829627 PMID:11370630 PMID:11782540 PMID:12826609 PMID:15958617 PMID:16206219 PMID:16818505 PMID:17015838 PMID:17606709 PMID:19012332 PMID:19468865 PMID:20407015 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:24573247 PMID:24857548 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32475984 PMID:33407742 More...
NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Tpst1
tyrosylprotein sulfotransferase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,544,536...26,605,706
Ensembl chr12:26,544,536...26,605,704
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Tra2a
transformer 2 alpha
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:78,220,838...78,239,737
Ensembl chr 4:78,220,883...78,239,712
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Trappc14
trafficking protein particle complex subunit 14
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,262,748...17,267,093
Ensembl chr12:17,262,750...17,267,084
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Tril
TLR4 interactor with leucine-rich repeats
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,922,327...82,927,172
Ensembl chr 4:82,922,328...82,927,172
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Trim24
tripartite motif-containing 24
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:66,567,342...66,692,029
Ensembl chr 4:66,566,686...66,717,241
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Trim50
tripartite motif-containing 50
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,300,784...21,317,668
Ensembl chr12:21,300,785...21,317,668
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Trim56
tripartite motif containing 56
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,544,913...19,567,324
Ensembl chr12:19,551,521...19,567,462
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Trip6
thyroid hormone receptor interactor 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,386,212...19,390,619
Ensembl chr12:19,386,014...19,390,618
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Trrap
transformation/transcription domain-associated protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,738,006...9,827,708
Ensembl chr12:9,738,006...9,827,674
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Tsc1
TSC complex subunit 1
ISO
mRNA:decreased expression:brain
RGD
PMID:16909113
RGD:11570509
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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Tsc22d4
TSC22 domain family, member 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:18,939,150...18,952,008
Ensembl chr12:18,914,398...18,952,008
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Tsga13
testis specific, 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,501,773...59,522,925
Ensembl chr 4:59,501,774...59,522,818
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Tspan12
tetraspanin 12
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246
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Tspan13
tetraspanin 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:52,738,748...52,765,503
Ensembl chr 6:52,738,758...52,765,547
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Tspan33
tetraspanin 33
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,305,378...58,330,013
Ensembl chr 4:58,305,437...58,328,940
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Twist1
twist family bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:50,674,910...50,676,904
Ensembl chr 6:50,674,678...50,677,653
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Tyw1
tRNA-yW synthesizing protein 1 homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,332,020...26,418,286
Ensembl chr12:26,330,351...26,418,208
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Ube2d2b
ubiquitin-conjugating enzyme E2D 2B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:1,915,999...1,917,473
Ensembl chr14:1,916,845...1,917,416
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Ube2h
ubiquitin-conjugating enzyme E2H
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,834,674...58,930,156
Ensembl chr 4:58,834,674...58,930,156
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Ubn2
ubinuclein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,165,278...67,251,562
Ensembl chr 4:67,166,346...67,230,491
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Ufsp1
UFM1-specific peptidase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,406,133...19,407,147
Ensembl chr12:19,406,142...19,407,195
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Upk3bl1
uroplakin 3B like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,610,353...20,616,366
Ensembl chr12:20,610,353...20,616,366
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Upp1
uridine phosphorylase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:83,809,495...83,829,299
Ensembl chr14:83,809,960...83,829,462
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Urgcp
upregulator of cell proliferation
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,594,637...80,638,972
Ensembl chr14:80,594,633...80,619,888
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Vgf
VGF nerve growth factor inducible
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,637,313...19,645,123
Ensembl chr12:19,637,320...19,640,341
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Vkorc1l1
vitamin K epoxide reductase complex, subunit 1-like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,717,959...26,768,193
Ensembl chr12:26,623,976...26,768,225
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Vopp1
VOPP1 WW domain binding protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:87,363,678...87,432,747
Ensembl chr 4:87,363,477...87,450,375
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Vps37d
VPS37D subunit of ESCRT-I
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,609,210...21,614,669
Ensembl chr12:21,609,182...21,614,659
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Vps41
VPS41 subunit of HOPS complex
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:46,063,132...46,227,533
Ensembl chr17:46,063,124...46,227,791
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Vps50
VPS50 subunit of EARP/GARPII complex
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,484,424...31,585,617
Ensembl chr 4:31,484,463...31,585,617
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Vstm2a
V-set and transmembrane domain containing 2A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:90,660,012...90,897,561
Ensembl chr14:90,660,004...90,685,656
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Vwc2
von Willebrand factor C domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:85,683,670...85,825,068
Ensembl chr14:85,684,414...85,818,524
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Vwde
von Willebrand factor D and EGF domains
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:41,453,573...41,525,421
Ensembl chr 4:41,455,281...41,533,374
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Wasl
WASP like actin nucleation promoting factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:53,083,536...53,132,061
Ensembl chr 4:53,083,536...53,132,022
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Wdr91
WD repeat domain 91
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,554,364...63,591,733
Ensembl chr 4:63,554,364...63,591,733
G
Wipf3
WAS/WASL interacting protein family, member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:83,550,075...83,629,929
Ensembl chr 4:83,550,468...83,629,386
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Wnt16
Wnt family member 16
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:50,820,968...50,831,380
Ensembl chr 4:50,820,968...50,831,380
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Wnt2
Wnt family member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:46,328,408...46,374,673
Ensembl chr 4:46,333,998...46,374,402
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Yae1
YAE1 maturation factor of ABCE1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:47,027,033...47,033,549
Ensembl chr17:47,027,019...47,033,546
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Ykt6
YKT6 v-SNARE homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,832,187...80,843,394
Ensembl chr14:80,832,187...80,843,385
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Ywhag
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,744,500...20,772,828
Ensembl chr12:20,744,535...20,772,827
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Zan
zonadhesin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,215,018...19,322,789
Ensembl chr12:19,215,102...19,271,240
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Zc3hav1
zinc finger CCCH-type containing, antiviral 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,012,129...67,062,428
Ensembl chr 4:67,012,185...67,062,428
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Zc3hav1l
zinc finger CCCH-type containing, antiviral 1 like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:66,994,192...67,003,207
Ensembl chr 4:66,994,199...67,001,620
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Zc3hc1
zinc finger, C3HC-type containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,989,989...59,011,925
Ensembl chr 4:58,989,987...59,011,933
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Zcwpw1
zinc finger CW-type and PWWP domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:18,880,625...18,910,713
Ensembl chr12:18,880,633...18,910,711
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Zfp113
zinc finger protein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,022,104...17,033,776
Ensembl chr12:17,022,279...17,033,709
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Zfp277
zinc finger protein 277
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:57,383,454...57,512,785
Ensembl chr 6:57,383,951...57,512,765
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Zfp394
zinc finger protein 394
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,409,047...9,417,228
Ensembl chr12:9,409,078...9,417,246
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Zfp655
zinc finger protein 655
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,349,985...9,375,449
Ensembl chr12:9,357,639...9,374,569
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Zfp800
zinc finger protein 800
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:56,798,326...56,849,766
Ensembl chr 4:56,826,997...56,849,791
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Zfp804b
zinc finger protein 804B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:26,608,510...27,144,717
Ensembl chr 4:26,609,744...27,141,673
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Zkscan1
zinc finger with KRAB and SCAN domains 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:16,966,287...16,987,680
Ensembl chr12:16,966,654...16,983,865
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Zkscan5
zinc finger with KRAB and SCAN domains 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,384,561...9,405,763
Ensembl chr12:9,384,571...9,405,881
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Zmiz2
zinc finger, MIZ-type containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,251,391...81,267,936
Ensembl chr14:81,251,417...81,267,936
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Znhit1
zinc finger, HIT-type containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,686,606...19,692,880
Ensembl chr12:19,686,148...19,692,880
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Znrf2
zinc and ring finger 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:83,950,406...84,032,676
Ensembl chr 4:83,949,309...84,027,818
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Zp3
zona pellucida glycoprotein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,690,547...20,697,513
Ensembl chr12:20,690,547...20,697,513
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Zpbp
zona pellucida binding protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:85,830,971...86,030,778
Ensembl chr14:85,833,548...86,033,095
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Zscan21
zinc finger and SCAN domain containing 21
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:16,998,496...17,024,167
Ensembl chr12:16,998,538...17,013,506
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Zscan25
zinc finger and SCAN domain containing 25
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,327,347...9,338,206
Ensembl chr12:9,326,404...9,338,221
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Axl
Axl receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25551830
NCBI chr 1:81,265,088...81,296,278
Ensembl chr 1:81,265,088...81,296,265
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Nf1
neurofibromin 1
ISO
associated with severe combined immunodeficiency, human cells in mouse model
RGD
PMID:17335073
RGD:126925763
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Ewsr1
EWS RNA-binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12162413
NCBI chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544
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Hes1
hes family bHLH transcription factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr11:70,705,763...70,708,176
Ensembl chr11:70,705,764...70,708,192
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Hey1
hes-related family bHLH transcription factor with YRPW motif 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:93,096,605...93,100,316
Ensembl chr 2:93,095,498...93,100,312
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Notch2
notch receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21127729
NCBI chr 2:185,610,594...185,744,088
Ensembl chr 2:185,610,589...185,744,088
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Pms2
PMS1 homolog 2, mismatch repair system component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15077197
NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16002382
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9581815
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Smo
smoothened, frizzled class receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9581815
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Primitive neuroectodermal tumor
ClinVar
PMID:16554133 PMID:21309039 PMID:22703879 PMID:23514105 PMID:25077650 PMID:25498131 PMID:25722345 PMID:25741868 PMID:26467025 PMID:27153395 PMID:28492532 PMID:30076350 PMID:31054281 More...
NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15618851
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Bmp4
bone morphogenetic protein 4
IEP ISO
protein:increased expression:pituitary gland CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16809920 PMID:12552124
RGD:629544
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Cebpd
CCAAT/enhancer binding protein delta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21980073
NCBI chr11:84,764,670...84,765,808
Ensembl chr11:84,764,565...84,765,829
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Hpgd
15-hydroxyprostaglandin dehydrogenase
ISO
mRNA:decreased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228
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Lrp2
LDL receptor related protein 2
ISO
ClinVar Annotator: match by term: Prolactinoma, familial
ClinVar
PMID:17632512 PMID:25682901 PMID:25741868 PMID:28492532
NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
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Men1
menin 1
ISS
OMIM:600634
MouseDO
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Myc
MYC proto-oncogene, bHLH transcription factor
IEP
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:22635680
RGD:7240531
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Nog
noggin
ISO
mRNA, protein:decreased expression:pituitary
RGD
PMID:12552124
RGD:629544
NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
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Npy5r
neuropeptide Y receptor Y5
IEP
protein:increased expression:pars anterior
RGD
PMID:11026575
RGD:1625506
NCBI chr16:23,055,427...23,063,384
Ensembl chr16:23,055,427...23,063,382
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Prl
prolactin
sexual_dimorphism
IEP ISO IAGP
mRNA:increased expression:pituitary gland protein:increased expression:blood serum (human) CTD Direct Evidence: marker/mechanism DNA:mutation
CTD RGD
PMID:718334 PMID:1407345 PMID:3776530 PMID:9617019 PMID:17260475 PMID:16029648 PMID:12124824 PMID:17260475 More...
RGD:1642576 , RGD:401976454 , RGD:401960111 , RGD:1642576
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
mRNA:increased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ephb2
Eph receptor B2
susceptibility
ISO
ClinVar Annotator: match by term: Prostate cancer/brain cancer susceptibility CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:15300251 PMID:16155194 PMID:25741868 PMID:28492532
NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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Cadm2
cell adhesion molecule 2
ISO
mRNA, protein:decreased expression:retina
RGD
PMID:30320366
RGD:15092072
NCBI chr11:4,548,367...5,525,420
Ensembl chr11:4,555,159...5,525,400
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Dicer1
dicer 1 ribonuclease III
exacerbates
ISO
DNA:deletion:haploinsufficiency
RGD
PMID:20019750
RGD:149735324
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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Fancm
FA complementation group M
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868
NCBI chr 6:83,126,903...83,180,455
Ensembl chr 6:83,127,093...83,180,028
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Fas
Fas cell surface death receptor
severity
ISO
protein:decreased expression:tumor (human)
RGD
PMID:14533029
RGD:8662811
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Ifnb1
interferon beta 1
ameliorates
ISO
RGD
PMID:19306089
RGD:401854248
NCBI chr 5:103,020,758...103,021,595
Ensembl chr 5:103,020,969...103,021,523
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Itm2b
integral membrane protein 2B
ISO
ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 PMID:17301081 PMID:22180099 PMID:25741868 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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Kdm1b
lysine demethylase 1B
ISO
mRNA:increased expression:retina (human)
RGD
PMID:16180235
RGD:9588276
NCBI chr17:17,602,961...17,643,865
Ensembl chr17:17,602,961...17,643,800
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Lpar6
lysophosphatidic acid receptor 6
ISO
ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:15877282 PMID:17096365 PMID:17301081 PMID:21505449 PMID:22909775 PMID:23301675 PMID:25640679 PMID:25741868 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
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Max
MYC associated factor X
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:95,636,859...95,662,204
Ensembl chr 6:95,636,858...95,662,137
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Med4
mediator complex subunit 4
ISO
ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:14722923 PMID:15877282 PMID:17096365 PMID:17301081 PMID:22180099 PMID:26475597 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
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Mgmt
O-6-methylguanine-DNA methyltransferase
disease_progression
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:15799820
RGD:2317684
NCBI chr 1:191,710,980...191,937,760
Ensembl chr 1:191,710,930...191,937,756
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Mir182
microRNA 182
treatment
IEP IMP
miRNA:increased expression:retina
RGD
PMID:30320366 PMID:30320366
RGD:15092072 , RGD:15092072
NCBI chr 4:58,784,818...58,784,879
Ensembl chr 4:58,784,818...58,784,879
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
susceptibility
ISO
DNA:SNP::2756A>G(human)
RGD
PMID:20310006
RGD:8694083
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Mutyh
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:26467025 PMID:26947005 PMID:28135145 PMID:28492532 PMID:30267214 PMID:33471991 PMID:34326862 More...
NCBI chr 5:130,274,034...130,286,149
Ensembl chr 5:130,274,122...130,286,146
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Nudt15
nudix hydrolase 15
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:8099255 PMID:12541220 PMID:14722923 PMID:17096365 PMID:22180099 PMID:28492532 PMID:28575107 PMID:29568217 More...
NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:23555315 PMID:25085752 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28873162 PMID:32832836 PMID:32868316 More...
NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Retinoblastoma
ClinVar
PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma CTD Direct Evidence: marker/mechanism DNA:mutations:exon, intron:multiple
OMIM ClinVar CTD RGD
PMID:1298292 PMID:1352398 PMID:1352883 PMID:1534305 PMID:1577465 PMID:1662795 PMID:1881452 PMID:2181449 PMID:2594029 PMID:2601691 PMID:2673542 PMID:2748600 PMID:7704558 PMID:7795591 PMID:7881418 PMID:7927327 PMID:7981694 PMID:8099255 PMID:8118465 PMID:8217609 PMID:8346255 PMID:8364580 PMID:8605116 PMID:8651278 PMID:8756645 PMID:8776589 PMID:9311732 PMID:9341870 PMID:9400934 PMID:9495340 PMID:9536098 PMID:9632788 PMID:9639842 PMID:9671401 PMID:9973307 PMID:10023315 PMID:10486322 PMID:10617920 PMID:10671068 PMID:10673998 PMID:10882758 PMID:10966849 PMID:10991691 PMID:11189328 PMID:11317357 PMID:11317369 PMID:11333669 PMID:11480772 PMID:11668642 PMID:12016586 PMID:12173465 PMID:12402348 PMID:12502741 PMID:12541220 PMID:12955724 PMID:14516425 PMID:14722923 PMID:14769601 PMID:15166261 PMID:15591264 PMID:15605413 PMID:15643604 PMID:15776430 PMID:15877282 PMID:15884040 PMID:16127685 PMID:16199547 PMID:16269091 PMID:16343894 PMID:16449662 PMID:16463005 PMID:16595082 PMID:16988938 PMID:17096365 PMID:17299438 PMID:17301081 PMID:17576681 PMID:17960112 PMID:17996702 PMID:18000883 PMID:18181215 PMID:18449911 PMID:18503160 PMID:18677112 PMID:18682685 PMID:19280657 PMID:19339519 PMID:19390654 PMID:19491728 PMID:19763152 PMID:20041224 PMID:20059380 PMID:20090211 PMID:20307669 PMID:20447117 PMID:20594292 PMID:20596833 PMID:20808897 PMID:21402997 PMID:21505449 PMID:21520333 PMID:21538077 PMID:21615945 PMID:21654082 PMID:21763628 PMID:22084214 PMID:22180099 PMID:22205104 PMID:22219649 PMID:22328814 PMID:22406018 PMID:22703879 PMID:22744425 PMID:22909775 PMID:22963398 PMID:23301675 PMID:23474753 PMID:23532519 PMID:23595191 PMID:23820649 PMID:23981928 PMID:24033266 PMID:24078560 PMID:24082139 PMID:24225018 PMID:24336570 PMID:24347427 PMID:24448499 PMID:24509483 PMID:24688104 PMID:24728327 PMID:24791139 PMID:24810223 PMID:24888624 PMID:25157968 PMID:25424699 PMID:25525159 PMID:25602518 PMID:25640679 PMID:25712084 PMID:25741868 PMID:25754945 PMID:25758528 PMID:25928201 PMID:25999316 PMID:26084579 PMID:26332594 PMID:26396485 PMID:26475597 PMID:26530098 PMID:26539030 PMID:26580448 PMID:26747767 PMID:26764160 PMID:26787237 PMID:26925970 PMID:26934580 PMID:27021801 PMID:27153395 PMID:27155049 PMID:27283993 PMID:27582626 PMID:27854218 PMID:27879208 PMID:27906792 PMID:27983729 PMID:28193182 PMID:28301456 PMID:28401291 PMID:28492532 PMID:28575107 PMID:28580595 PMID:28606269 PMID:28724667 PMID:28803391 PMID:28873162 PMID:28875981 PMID:29192238 PMID:29261756 PMID:29316426 PMID:29453956 PMID:29568217 PMID:29607586 PMID:29625052 PMID:29641532 PMID:29662154 PMID:29684080 PMID:30031154 PMID:30181556 PMID:30192042 PMID:30636860 PMID:30773851 PMID:30842500 PMID:31106028 PMID:31158355 PMID:31568710 PMID:31645765 PMID:31772335 PMID:32091409 PMID:32218800 PMID:32974172 PMID:33225895 PMID:33456302 PMID:33493472 PMID:33606809 PMID:34190019 PMID:34277001 PMID:34294096 PMID:34308366 PMID:34645364 PMID:34680218 PMID:35534704 PMID:12402348 More...
RGD:8547986
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Serpinf1
serpin family F member 1
treatment
ISO
human protein and tumor xenograft in a mouse model
RGD
PMID:19832843
RGD:8554870
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Sncg
synuclein, gamma
ISO
RGD
PMID:18728752
RGD:6218971
NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor
ClinVar
PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 PMID:26942290 PMID:27626068 More...
NCBI chr16:66,491,930...66,547,161
Ensembl chr16:66,494,042...66,547,350
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor
ClinVar
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:16906227 PMID:16930767 PMID:17673550 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21430269 PMID:21558396 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22370636 PMID:22658544 PMID:22729222 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24782230 PMID:25157968 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26822237 PMID:27126994 PMID:27626068 PMID:29988677 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 More...
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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Rnf216
ring finger protein 216
ISO
ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor
ClinVar
PMID:26822237 PMID:27626068
NCBI chr12:11,454,752...11,576,305
Ensembl chr12:11,454,797...11,576,304
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21143469 PMID:21279306 PMID:21484994 PMID:21834823 PMID:22581971 PMID:22670871 PMID:23167694 PMID:23401279 PMID:24033266 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24458874 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26087098 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29364747 PMID:30426266 PMID:30526585 PMID:30569517 PMID:30974434 PMID:31103801 PMID:33034246 PMID:35537890 PMID:36071541 More...
NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400
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Lztr1
leucine zipper like post translational regulator 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Schwannomatosis DNA, protein:multiple, multiple:multiple, blood (human) DNA:multiple:multiple (human)
CTD ClinVar RGD
PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 PMID:27921248 PMID:28492532 PMID:29384852 PMID:29409008 PMID:29469822 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 PMID:31130284 PMID:31182298 PMID:31219622 PMID:32371905 PMID:25480913 PMID:28365909 PMID:29409008 More...
RGD:151708709 , RGD:151708708 , RGD:151708704
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human) DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) DNA:multiple:multiple (human)
CTD ClinVar RGD
PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:24362817 PMID:25741868 PMID:28492532 PMID:22038540 PMID:28365909 PMID:29409008 More...
RGD:155804288 , RGD:151708708 , RGD:151708704
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
ClinVar Annotator: match by term: Schwannomatosis 1
ClinVar
PMID:7798645 PMID:9399891 PMID:25741868
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
susceptibility
ISO
ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic
ClinVar OMIM
PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 PMID:19124645 PMID:19582488 PMID:20930055 PMID:21255467 PMID:22038540 PMID:22434358 PMID:22949514 PMID:24362817 PMID:24728327 PMID:24740647 PMID:24933152 PMID:25631985 PMID:25741868 PMID:26073604 PMID:28492532 PMID:29409008 PMID:29517885 PMID:34747535 More...
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Schwannomatosis 2
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23917401 PMID:23999291 PMID:24033266 PMID:24362817 PMID:24448499 PMID:25008767 PMID:25303977 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 PMID:26260516 PMID:26803811 PMID:26901136 PMID:27921248 PMID:28017249 PMID:28121514 PMID:28135719 PMID:28191889 PMID:28295212 PMID:28492532 PMID:28749478 PMID:29346770 PMID:29384852 PMID:29409008 PMID:29469822 PMID:29489754 PMID:30006736 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30504930 PMID:30564305 PMID:30664951 PMID:30665374 PMID:30732632 PMID:30859559 PMID:31128261 PMID:31130284 PMID:31155615 PMID:31182298 PMID:31219622 PMID:31370276 PMID:31438995 PMID:31475041 PMID:31533111 PMID:31825158 PMID:31883238 PMID:31980526 PMID:32004086 PMID:32041611 PMID:32371905 PMID:32443592 PMID:32623905 PMID:32981126 PMID:33128510 PMID:33219631 PMID:33258288 PMID:33407364 PMID:33413596 PMID:33792302 PMID:33897756 PMID:34113392 PMID:34184824 PMID:34401172 PMID:34645488 PMID:35258168 PMID:35352813 PMID:35391499 PMID:35453828 PMID:35726512 PMID:35806449 PMID:35979676 PMID:36113475 More...
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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Ccnd2
cyclin D2
ISO
mRNA, protein:increased expression:testis
RGD
PMID:15747581
RGD:2289154
NCBI chr 4:159,966,883...159,989,261
Ensembl chr 4:159,962,363...159,989,495
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Chek2
checkpoint kinase 2
ISO
protein:decreased expression:testis
RGD
PMID:11593395
RGD:2298484
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Entpd6
ectonucleoside triphosphate diphosphohydrolase 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21519793
NCBI chr 3:139,575,659...139,598,163
Ensembl chr 3:139,575,686...139,598,154
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Fas
Fas cell surface death receptor
ISO
mRNA, protein:decreased expression:testis
RGD
PMID:17916181
RGD:2290049
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
ISO
mRNA, protein:increased expression:testis
RGD
PMID:17916181
RGD:2290049
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fgfr3
fibroblast growth factor receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19855393
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Fhit
fragile histidine triad diadenosine triphosphatase
ISO
RGD
PMID:12379753
RGD:2289879
NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
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Hmbs
hydroxymethylbilane synthase
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:15823405
RGD:2301683
NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957
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Hras
HRas proto-oncogene, GTPase
ISO
DNA:mutations: :multiple (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:19855393 PMID:19855393
RGD:2314832
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Inha
inhibin subunit alpha
ISO
RGD
PMID:11720904
RGD:2290380
NCBI chr 9:76,994,465...76,997,366
Ensembl chr 9:76,993,589...76,997,248
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Insr
insulin receptor
ISO
RGD
PMID:15967097
RGD:2290460
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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Jup
junction plakoglobin
ISO
RGD
PMID:11956097
RGD:2291872
NCBI chr10:85,300,438...85,327,378
Ensembl chr10:85,300,440...85,327,057
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Kcne1
potassium voltage-gated channel subfamily E regulatory subunit 1
ISO
RGD
PMID:15389592
RGD:1580497
NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901
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Kcnq1
potassium voltage-gated channel subfamily Q member 1
ISO
RGD
PMID:15389592
RGD:1580497
NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
RGD
PMID:10362788
RGD:2292181
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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Kras
KRAS proto-oncogene, GTPase
ISO
RGD
PMID:8816895
RGD:2314915
NCBI chr 4:178,185,418...178,218,484
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Pcna
proliferating cell nuclear antigen
disease_progression
ISO
RGD
PMID:7474604
RGD:2315012
NCBI chr 3:119,499,039...119,502,911
Ensembl chr 3:119,498,810...119,502,995
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Pdgfra
platelet derived growth factor receptor alpha
ISO
mRNA:splice variant:testis
RGD
PMID:8610136
RGD:2292154
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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Pdpn
podoplanin
ISO
RGD
PMID:17951198
RGD:2292234
NCBI chr 5:155,601,691...155,635,656
Ensembl chr 5:155,601,691...155,635,656
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Plaat3
phospholipase A and acyltransferase 3
ISO
RGD
PMID:11526504
RGD:2290002
NCBI chr 1:204,782,608...204,816,397
Ensembl chr 1:204,782,729...204,817,667
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Pou5f1
POU class 5 homeobox 1
ISO
protein:increased expression:chest DNA:hypomethylation:promoter mRNA, protein:increased expression:testis
RGD
PMID:18162782 PMID:17549357 PMID:17785371
RGD:2292429 , RGD:2292433 , RGD:2292432
NCBI chr20:3,223,128...3,227,891
Ensembl chr20:3,223,129...3,227,891
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Prmt5
protein arginine methyltransferase 5
ISO
protein:altered localization
RGD
PMID:17437848
RGD:2299953
NCBI chr15:27,968,893...27,978,291
Ensembl chr15:27,968,910...27,978,296
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Rb1
RB transcriptional corepressor 1
ISO
protein:decreased expression:testis
RGD
PMID:12754735
RGD:2299891
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Smad4
SMAD family member 4
ISO
DNA, protein:insertion, decreased expression:1521insT
RGD
PMID:10706106
RGD:2299975
NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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Tspy1
testis specific protein, Y-linked 1
ISO
protein:increased expression:testis
RGD
PMID:17521702
RGD:2315445
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Tymp
thymidine phosphorylase
ISO
protein:increased expression:testis
RGD
PMID:10886088
RGD:2293724
NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Vegfa
vascular endothelial growth factor A
disease_progression
ISO
protein:increased expression:testis
RGD
PMID:19288744
RGD:2315467
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xrcc1
X-ray repair cross complementing 1
susceptibility
ISO
DNA:polymorphism: :p.R399Q
RGD
PMID:16596238
RGD:2302576
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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Zfp354a
zinc finger protein 354A
ISO
mRNA:increased expression:testis
RGD
PMID:9788609
RGD:2291889
NCBI chr10:35,396,242...35,408,069
Ensembl chr10:35,396,231...35,408,068
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Spermatocytic seminoma
ClinVar
PMID:7773297 PMID:8599935 PMID:8754806 PMID:9207791 PMID:9677066 PMID:10053006 PMID:10471491 PMID:11055896 PMID:11241532 PMID:11429702 PMID:12624096 PMID:15843401 PMID:16752380 PMID:16912704 PMID:19088846 PMID:19855393 PMID:20301540 PMID:20453470 PMID:20704477 PMID:21273588 PMID:21510009 PMID:23972473 PMID:24075385 PMID:25614871 PMID:25741868 PMID:28492532 PMID:31994750 PMID:33942288 PMID:34930662 More...
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Spermatocytic seminoma
ClinVar
PMID:12727991 PMID:19855393 PMID:25157968 PMID:31775759
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Spermatocytic seminoma
ClinVar
PMID:12727991 PMID:19855393 PMID:25157968 PMID:31775759
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, familial spinal CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:190611 PMID:1511985 PMID:1568246 PMID:1568247 PMID:1745350 PMID:1757093 PMID:1783401 PMID:2114220 PMID:7607663 PMID:7649559 PMID:7655472 PMID:7874161 PMID:7903661 PMID:7904209 PMID:7981679 PMID:7981692 PMID:8069310 PMID:8099055 PMID:8264648 PMID:8385067 PMID:8499944 PMID:8499945 PMID:8544190 PMID:8669813 PMID:8829638 PMID:8845843 PMID:9003501 PMID:9042399 PMID:9109662 PMID:9132486 PMID:9150739 PMID:9219684 PMID:9219873 PMID:9302992 PMID:9385374 PMID:9463322 PMID:9475595 PMID:9529361 PMID:9536098 PMID:9545275 PMID:9654211 PMID:9668168 PMID:9687500 PMID:9691142 PMID:9783703 PMID:10076878 PMID:10090487 PMID:10336779 PMID:10494088 PMID:10543400 PMID:10607834 PMID:10677298 PMID:10678181 PMID:10712197 PMID:10721668 PMID:10726756 PMID:10862084 PMID:10874316 PMID:10980545 PMID:11115850 PMID:11137998 PMID:11258625 PMID:11431704 PMID:11704931 PMID:11735023 PMID:11857752 PMID:12095621 PMID:12112660 PMID:12522551 PMID:12552569 PMID:12566521 PMID:12807981 PMID:14517963 PMID:14569132 PMID:14722917 PMID:15060124 PMID:15146469 PMID:15207265 PMID:15858190 PMID:15863657 PMID:16138229 PMID:16199547 PMID:16380919 PMID:16479075 PMID:16513807 PMID:16528606 PMID:16542390 PMID:16544997 PMID:16773574 PMID:16786508 PMID:16835897 PMID:16870183 PMID:16937374 PMID:16944272 PMID:16961930 PMID:17160901 PMID:17295913 PMID:17311297 PMID:17426081 PMID:17576681 PMID:17712740 PMID:17726231 PMID:18041031 PMID:18183640 PMID:18484666 PMID:18546366 PMID:18800150 PMID:19076627 PMID:19120036 PMID:19142971 PMID:19221814 PMID:19241459 PMID:19292874 PMID:19935827 PMID:20301288 PMID:20601955 PMID:20602485 PMID:20605257 PMID:21271658 PMID:21354044 PMID:21512413 PMID:21520333 PMID:21532985 PMID:21732117 PMID:22034633 PMID:22108604 PMID:22155606 PMID:22190595 PMID:22207399 PMID:22703879 PMID:22807134 PMID:22925204 PMID:22962301 PMID:22965773 PMID:23047742 PMID:23244495 PMID:23407919 PMID:23460398 PMID:23637863 PMID:23656349 PMID:23668869 PMID:23758643 PMID:23781326 PMID:23812910 PMID:23913538 PMID:24033266 PMID:24218100 PMID:24232412 PMID:24357598 PMID:24413922 PMID:24463508 PMID:24654934 PMID:24676943 PMID:24694336 PMID:24711935 PMID:24728327 PMID:24789688 PMID:24803665 PMID:24922668 PMID:24932921 PMID:24951259 PMID:25074460 PMID:25211147 PMID:25324867 PMID:25325900 PMID:25326637 PMID:25370043 PMID:25403449 PMID:25525159 PMID:25533962 PMID:25541118 PMID:25741868 PMID:25810463 PMID:25877891 PMID:25925892 PMID:25966637 PMID:26000329 PMID:26056819 PMID:26088551 PMID:26155992 PMID:26178382 PMID:26467025 PMID:26478990 PMID:26489445 PMID:26509978 PMID:26510091 PMID:26580448 PMID:26635368 PMID:26706011 PMID:26740943 PMID:26758488 PMID:26840085 PMID:26962827 PMID:26969325 PMID:27069254 PMID:27074763 PMID:27322474 PMID:27498913 PMID:27716896 PMID:27793025 PMID:27838393 PMID:28130400 PMID:28135719 PMID:28422438 PMID:28492532 PMID:28518168 PMID:28706617 PMID:28825729 PMID:28873162 PMID:28891274 PMID:28955729 PMID:28976792 PMID:29082380 PMID:29089047 PMID:29290338 PMID:29415745 PMID:29483232 PMID:29522274 PMID:29625052 PMID:29673180 PMID:29684080 PMID:29685074 PMID:29758562 PMID:29872168 PMID:29908077 PMID:29914388 PMID:29926981 PMID:30014477 PMID:30086788 PMID:30111351 PMID:30190611 PMID:30287823 PMID:30290804 PMID:30308447 PMID:30530636 PMID:30632835 PMID:30877234 PMID:31159747 PMID:31160754 PMID:31308404 PMID:31347283 PMID:31370276 PMID:31422574 PMID:31533651 PMID:31533797 PMID:31595648 PMID:31717729 PMID:31730495 PMID:31766501 PMID:31776437 PMID:31882575 PMID:31891871 PMID:32107864 PMID:32126153 PMID:32461654 PMID:32566746 PMID:32980694 PMID:33046013 PMID:33322618 PMID:33471991 PMID:33540839 PMID:33562071 PMID:33674644 PMID:33840814 PMID:34080803 PMID:34418705 PMID:35024939 PMID:35091509 PMID:35264596 PMID:35885913 PMID:36988593 PMID:125305868 More...
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
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Pms2
PMS1 homolog 2, mismatch repair system component
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15077197
NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
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Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: Supratentorial primitive neuroectodermal tumor
ClinVar
PMID:21882293 PMID:24481001 PMID:24513630 PMID:24617712 PMID:24675358 PMID:24909177 PMID:25190313 PMID:25356068 PMID:25741868 PMID:25836323 PMID:26033159 PMID:26475046 PMID:26555935 PMID:26556299 PMID:26841698 PMID:26925222 PMID:26928971 PMID:27126690 PMID:27459524 PMID:28177962 PMID:28222777 PMID:28492532 PMID:28862265 PMID:29315962 PMID:29881993 PMID:30014022 PMID:30266945 PMID:30649606 More...
NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Medullary thyroid gland carcinoma
ClinVar
PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17062680 PMID:17384584 PMID:18316791 PMID:18794081 PMID:19114683 PMID:19255327 PMID:19679400 PMID:19773371 PMID:20921462 PMID:20921465 PMID:21228335 PMID:23406027 PMID:24033266 PMID:25157968 More...
NCBI chr 4:178,185,418...178,218,484
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Ret
ret proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Medullary thyroid carcinoma | ClinVar Annotator: match by term: Medullary thyroid gland carcinoma
CTD ClinVar
PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 PMID:7608256 PMID:7633441 PMID:7784092 PMID:7824936 PMID:7835899 PMID:7845675 PMID:7849700 PMID:7849720 PMID:7860065 PMID:7874109 PMID:7881414 PMID:7906417 PMID:7906866 PMID:7907913 PMID:7911697 PMID:7914213 PMID:7915165 PMID:7977365 PMID:8099202 PMID:8103403 PMID:8114940 PMID:8556059 PMID:8557249 PMID:8570194 PMID:8595427 PMID:8675603 PMID:8733882 PMID:8757765 PMID:8765374 PMID:8782503 PMID:8797874 PMID:8807338 PMID:8825918 PMID:8855832 PMID:8909322 PMID:8918855 PMID:9012462 PMID:9067749 PMID:9090527 PMID:9111992 PMID:9146685 PMID:9150704 PMID:9174404 PMID:9223675 PMID:9230192 PMID:9242375 PMID:9259198 PMID:9263528 PMID:9384613 PMID:9398735 PMID:9498388 PMID:9506724 PMID:9606292 PMID:9620546 PMID:9681850 PMID:9681851 PMID:9699127 PMID:9820617 PMID:9824583 PMID:9839497 PMID:9879991 PMID:9950371 PMID:10024437 PMID:10076558 PMID:10220148 PMID:10235148 PMID:10369718 PMID:10445857 PMID:10462620 PMID:10490816 PMID:10522989 PMID:10679286 PMID:10790203 PMID:11114642 PMID:11230481 PMID:11351254 PMID:11386462 PMID:11389085 PMID:11562352 PMID:11688458 PMID:11739416 PMID:11849247 PMID:11900218 PMID:11932300 PMID:11935126 PMID:11939755 PMID:11987030 PMID:12000816 PMID:12116277 PMID:12466368 PMID:12566528 PMID:12673960 PMID:12686527 PMID:12746565 PMID:12788868 PMID:12920219 PMID:14561794 PMID:14715928 PMID:14718397 PMID:15184865 PMID:15277225 PMID:15292360 PMID:15345114 PMID:15472167 PMID:15523405 PMID:15531714 PMID:15588376 PMID:15588381 PMID:15699703 PMID:15741265 PMID:15753368 PMID:15855933 PMID:15858153 PMID:15870131 PMID:15991157 PMID:16053382 PMID:16099853 PMID:16118333 PMID:16275981 PMID:16314641 PMID:16322339 PMID:16343097 PMID:16419493 PMID:16469774 PMID:16525712 PMID:16532227 PMID:16705552 PMID:16707008 PMID:16712668 PMID:16715139 PMID:16736292 PMID:16778204 PMID:16817830 PMID:16849421 PMID:16865647 PMID:16868135 PMID:16928683 PMID:17021738 PMID:17047083 PMID:17065770 PMID:17097365 PMID:17102080 PMID:17102083 PMID:17108110 PMID:17178962 PMID:17188172 PMID:17209045 PMID:17270543 PMID:17316110 PMID:17483988 PMID:17527003 PMID:17540634 PMID:17573899 PMID:17590169 PMID:17605401 PMID:17610518 PMID:17639058 PMID:17664273 PMID:17704047 PMID:17895320 PMID:17898100 PMID:17963006 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18073307 PMID:18096130 PMID:18206480 PMID:18209889 PMID:18248647 PMID:18252215 PMID:18541894 PMID:19015274 PMID:19041016 PMID:19062722 PMID:19169500 PMID:19255327 PMID:19336503 PMID:19469690 PMID:19472011 PMID:19825962 PMID:19826964 PMID:19906784 PMID:20041006 PMID:20065189 PMID:20080836 PMID:20103606 PMID:20368568 PMID:20497437 PMID:20516206 PMID:20554711 PMID:20672905 PMID:20801952 PMID:20847059 PMID:20943719 PMID:20979234 PMID:21054478 PMID:21253810 PMID:21254918 PMID:21311890 PMID:21422799 PMID:21422803 PMID:21455200 PMID:21470995 PMID:21479187 PMID:21551259 PMID:21655256 PMID:21690267 PMID:21765987 PMID:21810974 PMID:21834681 PMID:21986619 PMID:21995290 PMID:22025146 PMID:22068382 PMID:22199277 PMID:22233172 PMID:22270996 PMID:22359510 PMID:22584710 PMID:22676344 PMID:22703879 PMID:22900816 PMID:22992277 PMID:23056499 PMID:23210566 PMID:23295303 PMID:23330657 PMID:23416954 PMID:23617071 PMID:23660872 PMID:23723040 PMID:23861463 PMID:23868299 PMID:24033266 PMID:24055113 PMID:24152999 PMID:24331334 PMID:24336963 PMID:24375508 PMID:24449023 PMID:24561444 PMID:24617864 PMID:24716929 PMID:24784869 PMID:24805091 PMID:24845513 PMID:25027091 PMID:25157968 PMID:25374962 PMID:25425582 PMID:25440022 PMID:25515555 PMID:25628771 PMID:25637381 PMID:25694125 PMID:25741868 PMID:25810047 PMID:25887804 PMID:26046350 PMID:26084817 PMID:26269449 PMID:26332594 PMID:26356818 PMID:26467025 PMID:26556299 PMID:26678667 PMID:26732158 PMID:26876062 PMID:27014708 PMID:27153395 PMID:27539324 PMID:27673361 PMID:27698838 PMID:27807060 PMID:27994876 PMID:28099363 PMID:28152038 PMID:28186607 PMID:28323957 PMID:28469506 PMID:28492532 PMID:28569245 PMID:28647780 PMID:28873162 PMID:28946813 PMID:28951487 PMID:29097883 PMID:29133048 PMID:29197744 PMID:29378479 PMID:29396759 PMID:29397600 PMID:29656518 PMID:29684080 PMID:29790872 PMID:30172768 PMID:30446652 PMID:30624503 PMID:30660595 PMID:30763276 PMID:30884088 PMID:30927507 PMID:31263477 PMID:31300450 PMID:31447099 PMID:31510104 PMID:32179705 PMID:32293499 PMID:32408902 PMID:33167350 PMID:33219105 PMID:33340421 PMID:33397040 PMID:33450337 PMID:33532864 PMID:33827484 PMID:34092334 PMID:34439168 PMID:34629742 PMID:34777782 PMID:34881033 PMID:34905813 PMID:35627249 More...
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Aqp4
aquaporin 4
ISO
RGD
PMID:21771203 PMID:23999580
RGD:5148008 , RGD:8696028
NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856
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Il6
interleukin 6
ISO
protein:increased expression:serum, cerebral spinal fluid:
RGD
PMID:20128675
RGD:7829722
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Vps37a
VPS37A subunit of ESCRT-I
ISO
ClinVar Annotator: match by term: Idiopathic transverse myelitis
ClinVar
PMID:25741868 PMID:28492532 PMID:29473047
NCBI chr16:51,736,170...51,775,384
Ensembl chr16:51,737,481...51,775,390
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Rb1
RB transcriptional corepressor 1
ISO
ClinVar Annotator: match by term: Trilateral retinoblastoma
ClinVar
PMID:7704558 PMID:8346255 PMID:8605116 PMID:9400934 PMID:16463005 PMID:17096365 PMID:21763628 PMID:22963398 PMID:24688104 PMID:25157968 PMID:25602518 PMID:25741868 PMID:28492532 PMID:30031154 PMID:33456302 More...
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Bap1
Brca1 associated protein 1
disease_progression susceptibility
ISO
mRNA,protein:decreased expression: : ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 2 | ClinVar Annotator: match by term: Uveal melanoma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:16341802 PMID:19197335 PMID:21874000 PMID:23032617 PMID:23684012 PMID:24243779 PMID:24728327 PMID:25231345 PMID:25687217 PMID:25741868 PMID:25974357 PMID:26467025 PMID:26556299 PMID:26683624 PMID:26719535 PMID:28062663 PMID:28492532 PMID:28551647 PMID:28793149 PMID:30477459 PMID:30883995 PMID:31034483 PMID:31186267 PMID:32002398 PMID:25147369 More...
RGD:9586037
NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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Birc7
baculoviral IAP repeat-containing 7
exacerbates
ISO
mRNA:increased expression:uvea (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 3:168,047,824...168,052,606
Ensembl chr 3:168,047,824...168,052,606
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Brca2
BRCA2, DNA repair associated
susceptibility
ISO
DNA:mutations: :
RGD
PMID:22187320
RGD:9068467
NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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Crp
C-reactive protein
disease_progression
ISO
RGD
PMID:23057648
RGD:9491834
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Cysltr2
cysteinyl leukotriene receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27089179 PMID:33288675
NCBI chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
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Eif1ax
eukaryotic translation initiation factor 1A, X-linked
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23793026
NCBI chr X:35,498,698...35,513,402
Ensembl chr X:35,498,517...35,513,335
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Gna11
G protein subunit alpha 11
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Uveal melanoma
CTD ClinVar
PMID:1328859 PMID:2549426 PMID:21083380 PMID:21444680 PMID:22733540 PMID:22808163 PMID:24141786 PMID:25157968 PMID:25741868 PMID:26397223 PMID:26619011 PMID:27089179 More...
NCBI chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812
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Gnaq
G protein subunit alpha q
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Uveal melanoma
CTD ClinVar
PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 PMID:22253748 PMID:22653968 PMID:22733540 PMID:22808163 PMID:25157968 PMID:26397223 PMID:27089179 More...
NCBI chr 1:213,425,631...213,671,947
Ensembl chr 1:213,424,465...213,667,672
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Igf1
insulin-like growth factor 1
disease_progression
ISO
RGD
PMID:23197685
RGD:8548834
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Jmjd6
jumonji domain containing 6, arginine demethylase and lysine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30619488
NCBI chr10:102,041,131...102,047,182
Ensembl chr10:102,041,120...102,047,182
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Kdm5b
lysine demethylase 5B
severity
ISO
protein:increased expression:uvea (human)
RGD
PMID:22669717
RGD:9587775
NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
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Kdr
kinase insert domain receptor
disease_progression
ISO
RGD
PMID:21984395
RGD:8549718
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Mbd4
methyl-CpG binding domain 4 DNA glycosylase
susceptibility
ISO
ClinVar Annotator: match by term: Melanoma, uveal, susceptibility to, 1 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:28492532 PMID:29760383 PMID:30049810 PMID:30714079 PMID:32239153 PMID:35460607 More...
NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
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Mcam
melanoma cell adhesion molecule
disease_progression
ISO
RGD
PMID:19958117
RGD:7364775
NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571
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Plcb4
phospholipase C, beta 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Uveal melanoma
CTD ClinVar
PMID:27089179 PMID:31186267
NCBI chr 3:122,952,965...123,322,522
Ensembl chr 3:122,953,196...123,322,392
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Pramex1
PRAME like, X-linked 1
severity
ISO
mRNA:increased expression:uvea (human)
RGD
PMID:27486988
RGD:11535039
NCBI chr X:98,567,994...98,574,654
Ensembl chr X:98,569,415...98,572,096
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RT1-CE13
RT1 class I, locus CE13
severity
ISO
protein:increased expression:tumor of uvea (human)
RGD
PMID:9286277
RGD:7364941
NCBI chr20:3,314,830...3,318,106
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Serpine1
serpin family E member 1
treatment
ISO
human gene in mouse model
RGD
PMID:9326241
RGD:8547806
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Serpinf1
serpin family F member 1
severity
ISO
RGD
PMID:23793989
RGD:8554893
NCBI chr10:60,250,198...60,262,593
Ensembl chr10:60,249,708...60,262,646
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Sf3b1
splicing factor 3b, subunit 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Uveal melanoma
CTD ClinVar
PMID:23313955 PMID:23793026 PMID:25741868 PMID:26619011
NCBI chr 9:56,492,403...56,532,300
Ensembl chr 9:56,492,403...56,532,300
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Tmem127
transmembrane protein 127
ISO
ClinVar Annotator: match by term: Uveal melanoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 3:114,466,095...114,478,894
Ensembl chr 3:114,466,171...114,477,519
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Vegfa
vascular endothelial growth factor A
ISO
protein:increased expression:iris, ciliary body, vitreous body;
RGD
PMID:11914216
RGD:7483591
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Cldn14
claudin 14
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106
NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
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Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Kat6a
lysine acetyltransferase 6A
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606
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Kel
Kell metallo-endopeptidase (Kell blood group)
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr 4:70,568,241...70,585,666
Ensembl chr 4:70,568,243...70,585,631
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:28492532 PMID:30578106
NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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Smarca2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
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Ap1b1
adaptor related protein complex 1 subunit beta 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
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Ascc2
activating signal cointegrator 1 complex subunit 2
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,503,449...79,547,801
Ensembl chr14:79,503,517...79,545,494
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C14H22orf31
chromosome 14 C22orf31 homolog
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
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Cabp7
calcium binding protein 7
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,598,822...79,609,172
Ensembl chr14:79,598,827...79,609,240
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Ccdc117
coiled-coil domain containing 117
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:80,399,236...80,409,824
Ensembl chr14:80,400,294...80,409,659
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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Emid1
EMI domain containing 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:80,000,486...80,043,561
Ensembl chr14:80,000,486...80,043,620
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Ewsr1
EWS RNA-binding protein 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544
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Gas2l1
growth arrest-specific 2 like 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,955,350...79,961,830
Ensembl chr14:79,950,555...79,961,438
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Hscb
HscB mitochondrial iron-sulfur cluster co-chaperone
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr12:45,821,527...45,831,902
Ensembl chr12:45,821,555...45,831,909
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Kremen1
kringle containing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:80,081,870...80,147,489
Ensembl chr14:80,084,403...80,147,516
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Mtmr3
myotubularin related protein 3
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,340,523...79,460,947
Ensembl chr14:79,340,513...79,461,041
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Nefh
neurofilament heavy chain
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,830,362...79,840,347
Ensembl chr14:79,830,362...79,840,351
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO ISS
ClinVar Annotator: match by term: Neurofibromatosis, type 2 OMIM:101000 DNA:multiple:multiple (human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:1479598 PMID:2543905 PMID:4000972 PMID:7535084 PMID:7666400 PMID:7711726 PMID:7759081 PMID:7868131 PMID:7913580 PMID:7951231 PMID:8012353 PMID:8081368 PMID:8230593 PMID:8379998 PMID:8566958 PMID:8698340 PMID:8751853 PMID:8755919 PMID:8757035 PMID:8797533 PMID:8882871 PMID:8889506 PMID:9391890 PMID:9466988 PMID:9536098 PMID:9605590 PMID:9643284 PMID:9718334 PMID:9817921 PMID:9817927 PMID:9884492 PMID:9931334 PMID:10220142 PMID:10691417 PMID:10712203 PMID:10777666 PMID:10970839 PMID:11085592 PMID:11129337 PMID:11448944 PMID:11535133 PMID:11668501 PMID:11756419 PMID:11779178 PMID:11809806 PMID:12118253 PMID:12136076 PMID:12217955 PMID:12566519 PMID:12695331 PMID:12807969 PMID:15598747 PMID:15635074 PMID:15645494 PMID:15684865 PMID:15692946 PMID:16199547 PMID:16509493 PMID:16532029 PMID:16983642 PMID:17222329 PMID:17330926 PMID:17576681 PMID:17607601 PMID:18033041 PMID:18173316 PMID:18554169 PMID:18670066 PMID:18766994 PMID:19234911 PMID:19249154 PMID:19451225 PMID:19924781 PMID:19968670 PMID:20553997 PMID:20831745 PMID:21294614 PMID:21563229 PMID:21671232 PMID:21906157 PMID:22012890 PMID:22081132 PMID:22295085 PMID:22325036 PMID:22703879 PMID:22711605 PMID:23196945 PMID:23348505 PMID:24030433 PMID:24033266 PMID:24309211 PMID:24595234 PMID:24728327 PMID:24815379 PMID:25326635 PMID:25525159 PMID:25567352 PMID:25640679 PMID:25741868 PMID:25798586 PMID:25931164 PMID:26031996 PMID:26045165 PMID:26066488 PMID:26073919 PMID:26332594 PMID:26343386 PMID:26407091 PMID:26467025 PMID:27128293 PMID:27600092 PMID:27704245 PMID:27930734 PMID:28365909 PMID:28492532 PMID:28526081 PMID:28737257 PMID:28873162 PMID:29316957 PMID:29409008 PMID:29489754 PMID:29625052 PMID:29641532 PMID:29761250 PMID:29781505 PMID:30306255 PMID:30594554 PMID:30833958 PMID:31089872 PMID:31273341 PMID:31370276 PMID:32191290 PMID:32724039 PMID:33058421 PMID:33067351 PMID:33606809 PMID:35264596 PMID:28365909 PMID:29409008 More...
RGD:151708708 , RGD:151708704
NCBI chr14:79,627,399...79,710,709
Ensembl chr14:79,627,399...79,710,667
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Nipsnap1
nipsnap homolog 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,734,234...79,758,101
Ensembl chr14:79,734,209...79,758,098
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Rasl10a
RAS-like, family 10, member A
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,955,093...79,956,471
Ensembl chr14:79,954,398...79,956,468
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Rhbdd3
rhomboid domain containing 3
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,994,111...80,000,294
Ensembl chr14:79,994,158...80,000,175
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Smarcb1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
ISO
DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)
RGD
PMID:28365909
RGD:151708708
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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Thoc5
THO complex subunit 5
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,758,805...79,792,718
Ensembl chr14:79,758,917...79,792,718
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Uqcr10
ubiquinol-cytochrome c reductase, complex III subunit X
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,566,151...79,569,017
Ensembl chr14:79,566,157...79,569,003
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:20406973 PMID:19587327
RGD:8547955 , RGD:8547957
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Xbp1
X-box binding protein 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:80,390,629...80,395,713
Ensembl chr14:80,390,643...80,395,693
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Zmat5
zinc finger, matrin type 5
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:79,568,644...79,599,595
Ensembl chr14:79,568,758...79,599,594
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Znrf3
zinc and ring finger 3
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:80,157,854...80,313,456
Ensembl chr14:80,160,278...80,313,485
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Ifna1
interferon, alpha 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17961653
NCBI chr 5:103,097,356...103,097,925
Ensembl chr 5:103,097,356...103,097,925
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Men1
menin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17961653
NCBI chr 1:203,638,905...203,644,871
Ensembl chr 1:203,639,000...203,644,871
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Sst
somatostatin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:2868874
NCBI chr11:76,956,896...76,958,173
Ensembl chr11:76,956,896...76,958,173
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