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G |
Apc |
APC regulator of WNT signaling pathway |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10686957 |
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NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
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Traf7 |
TNF receptor associated factor 7 |
|
ISO |
DNA:missense mutations:multiple |
RGD |
PMID:29148537 |
RGD:151356962 |
NCBI chrNW_004955442:15,092,955...15,112,842
Ensembl chrNW_004955442:15,092,955...15,112,840
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Chd6 |
chromodomain helicase DNA binding protein 6 |
|
ISO |
ClinVar Annotator: match by term: Adult spinal cord ependymoma |
ClinVar |
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NCBI chrNW_004955445:15,360,074...15,576,410
Ensembl chrNW_004955445:15,360,025...15,560,988
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G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11816139 |
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NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
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Ccn2 |
cellular communication network factor 2 |
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ISO |
mRNA:increased expression:tumor (human) |
RGD |
PMID:19366727 |
RGD:2314525 |
NCBI chrNW_004955436:12,523,602...12,526,986
Ensembl chrNW_004955436:12,522,944...12,526,480
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G |
Ctnnb1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Aggressive fibromatosis |
ClinVar |
PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26619011 PMID:26822237 More...
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NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
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Serpine1 |
serpin family E member 1 |
susceptibility |
ISO |
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human) |
RGD |
PMID:17160433 |
RGD:13208596 |
NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
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G |
Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19944662 |
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NCBI chrNW_004955437:117,267...119,899
Ensembl chrNW_004955437:117,206...120,700
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G |
Bcl2 |
BCL2 apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10861090 |
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NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
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G |
Foxo1 |
forkhead box O1 |
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ISO |
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OMIM |
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NCBI chrNW_004955431:5,797,359...5,890,758
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G |
Pax3 |
paired box 3 |
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ISO |
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma |
OMIM ClinVar |
PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32747562 More...
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NCBI chrNW_004955453:11,463,407...11,558,001
Ensembl chrNW_004955453:11,463,379...11,558,006
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G |
Pax7 |
paired box 7 |
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ISO |
ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 |
OMIM ClinVar |
PMID:25741868 PMID:31092906 PMID:32214227 |
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NCBI chrNW_004955527:474,450...573,869
Ensembl chrNW_004955527:474,403...574,689
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G |
Tp73 |
tumor protein p73 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21245298 |
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NCBI chrNW_004955486:7,914,608...7,961,992
Ensembl chrNW_004955486:7,914,440...7,952,982
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G |
Wwtr1 |
WW domain containing transcription regulator 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31494105 |
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NCBI chrNW_004955448:745,419...868,313
Ensembl chrNW_004955448:745,419...868,602
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G |
Aspscr1 |
ASPSCR1 tether for SLC2A4, UBX domain containing |
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ISO |
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OMIM |
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NCBI chrNW_004955506:1,152,790...1,193,826
Ensembl chrNW_004955506:1,152,790...1,193,826
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859340 |
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NCBI chrNW_004955494:2,567,238...2,712,708
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G |
Smo |
smoothened, frizzled class receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859340 |
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NCBI chrNW_004955479:9,963,377...9,991,670
Ensembl chrNW_004955479:9,964,170...9,993,165
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G |
Atrx |
ATRX chromatin remodeler |
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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...
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NCBI chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724
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G |
Kras |
KRAS proto-oncogene, GTPase |
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ISO |
mRNA:decreased expression:brain |
RGD |
PMID:19179066 |
RGD:13702872 |
NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
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Tp53 |
tumor protein p53 |
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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...
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NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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Palb2 |
partner and localizer of BRCA2 |
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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...
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NCBI chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781
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G |
Rnf213 |
ring finger protein 213 |
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ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:26822237 |
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NCBI chrNW_004955506:2,498,339...2,598,363
Ensembl chrNW_004955506:2,499,770...2,596,989
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G |
Cic |
capicua transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Anaplastic oligodendroglioma |
ClinVar |
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NCBI chrNW_004955555:613,549...641,587
Ensembl chrNW_004955555:613,665...638,369
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G |
Creb1 |
cAMP responsive element binding protein 1 |
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ISO |
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OMIM |
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NCBI chrNW_004955457:7,424,403...7,490,630
Ensembl chrNW_004955457:7,431,736...7,491,149
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G |
Ogg1 |
8-oxoguanine DNA glycosylase |
no_association |
ISO |
associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human) associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human) associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney |
RGD |
PMID:17932460 PMID:19265534 |
RGD:8657154 RGD:8657155 |
NCBI chrNW_004955561:1,277,362...1,282,949
Ensembl chrNW_004955561:1,277,365...1,282,793
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G |
Pten |
phosphatase and tensin homolog |
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ISO |
protein:increased expression:kidney (human) |
RGD |
PMID:22737271 |
RGD:12802360 |
NCBI chrNW_004955425:5,007,811...5,091,829
Ensembl chrNW_004955425:5,014,147...5,091,829
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G |
Stat1 |
signal transducer and activator of transcription 1 |
|
ISO |
protein:increased serine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chrNW_004955403:8,156,660...8,192,018
Ensembl chrNW_004955403:8,156,660...8,194,762
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G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
protein:increased tyrosine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
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G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney |
RGD |
PMID:19265534 |
RGD:8657154 |
NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
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G |
Angpt2 |
angiopoietin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004955403:54,139,823...54,193,740
Ensembl chrNW_004955403:54,139,823...54,195,032
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G |
Ccnd1 |
cyclin D1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004955422:16,449,921...16,462,676
Ensembl chrNW_004955422:16,448,770...16,463,300
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G |
Col18a1 |
collagen type XVIII alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004955407:42,091,211...42,131,343
Ensembl chrNW_004955407:42,091,211...42,131,343
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G |
Csf3 |
colony stimulating factor 3 |
|
ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9774950 |
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NCBI chrNW_004955451:14,688,181...14,690,126
Ensembl chrNW_004955451:14,688,181...14,690,126
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G |
Ctnnb1 |
catenin beta 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:13678655 |
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NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
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G |
Flt1 |
fms related receptor tyrosine kinase 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004955497:7,653,309...7,831,737
Ensembl chrNW_004955497:7,653,248...7,831,472
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G |
Gja4 |
gap junction protein alpha 4 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004955452:12,902,764...12,905,337
Ensembl chrNW_004955452:12,902,773...12,905,337
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G |
Hras |
HRas proto-oncogene, GTPase |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10930038 |
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NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333
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G |
Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004955464:1,107,598...1,110,326
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G |
Kcnn4 |
potassium calcium-activated channel subfamily N member 4 |
ameliorates |
ISO |
protein:increased expression:vasculature (human) human cells in mouse model |
RGD |
PMID:27531900 |
RGD:329955561 |
NCBI chrNW_004955555:1,493,600...1,509,113
Ensembl chrNW_004955555:1,490,052...1,509,113
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G |
Kdr |
kinase insert domain receptor |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
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G |
Kras |
KRAS proto-oncogene, GTPase |
|
ISO |
ClinVar Annotator: match by term: Angiosarcoma |
ClinVar |
PMID:8456858 PMID:20147967 PMID:21371307 PMID:24740626 PMID:25157968 PMID:25808193 PMID:28492532 PMID:34117033 More...
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NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
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G |
Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Angiosarcoma |
ClinVar |
PMID:26822237 |
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NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
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G |
Myc |
MYC proto-oncogene, bHLH transcription factor |
|
ISO |
CTD Direct Evidence: marker/mechanism associated with neoplasms, radiation-induced; DNA:amplification: (human) |
CTD RGD |
PMID:17569031 PMID:26440310 |
RGD:151665099 |
NCBI chrNW_004955461:2,714,022...2,718,872
Ensembl chrNW_004955461:2,714,022...2,718,982
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G |
Plcg1 |
phospholipase C gamma 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24633157 |
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NCBI chrNW_004955445:15,787,496...15,823,859
Ensembl chrNW_004955445:15,787,496...15,823,859
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G |
Ptprb |
protein tyrosine phosphatase receptor type B |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:mutation:multiple (human) DNA:mutations:multiple (human) |
CTD RGD |
PMID:24633157 PMID:26440310 |
RGD:151361292 RGD:151665099 |
NCBI chrNW_004955405:10,647,777...10,766,909
Ensembl chrNW_004955405:10,648,818...10,766,993
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Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
protein:increased phosphorylation:blood vessel |
RGD |
PMID:18700251 |
RGD:8694308 |
NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
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Tek |
TEK receptor tyrosine kinase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004955472:7,633,790...7,748,130
Ensembl chrNW_004955472:7,633,721...7,748,386
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G |
Tp53 |
tumor protein p53 |
|
ISO |
CTD Direct Evidence: marker/mechanism DNA:mutation:multiple (human) |
CTD RGD |
PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 PMID:26440310 |
RGD:151665099 |
NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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Vegfa |
vascular endothelial growth factor A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004955437:9,527,445...9,541,908
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G |
Vegfc |
vascular endothelial growth factor C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chrNW_004955403:31,016,423...31,130,892
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
severity |
ISO |
|
RGD |
PMID:26286747 PMID:26956052 |
RGD:11343921 RGD:13782052 |
NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820
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Pole |
DNA polymerase epsilon, catalytic subunit |
|
ISO |
ClinVar Annotator: match by term: Neuroepithelial neoplasm |
ClinVar |
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29987844 |
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NCBI chrNW_004955482:373,467...418,000
Ensembl chrNW_004955482:373,555...417,266
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G |
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...
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NCBI chrNW_004955412:10,422,753...10,531,406
Ensembl chrNW_004955412:10,426,135...10,530,545
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G |
CUNH11orf65 |
chromosome unknown C11orf65 homolog |
|
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...
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NCBI chrNW_004955412:10,533,174...10,567,364
Ensembl chrNW_004955412:10,533,441...10,567,612
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G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Astroblastoma, MN1-altered |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
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G |
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...
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NCBI chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724
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G |
Gpc3 |
glypican 3 |
|
ISO |
protein:increased expression:brain (human) |
RGD |
PMID:23530909 |
RGD:243065128 |
NCBI chrNW_004955473:969,627...1,431,706
Ensembl chrNW_004955473:969,800...1,431,483
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G |
Smarcb1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
|
ISO |
ClinVar Annotator: match by term: Teratoid tumor, atypical |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955455:8,420,263...8,457,105
Ensembl chrNW_004955455:8,415,839...8,457,097
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G |
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...
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NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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G |
Rhob |
ras homolog family member B |
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ISO |
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RGD |
PMID:1710770 |
RGD:704375 |
NCBI chrNW_004955469:2,964,968...2,966,998
Ensembl chrNW_004955469:2,965,041...2,965,631
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G |
H3f3a |
H3 histone, family 3A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24162739 |
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NCBI chrNW_004955489:269,900...278,398
Ensembl chrNW_004955489:269,900...278,398
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G |
Akt1 |
AKT serine/threonine kinase 1 |
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ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
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...
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NCBI chrNW_004955538:3,208,711...3,224,386
Ensembl chrNW_004955538:3,208,710...3,229,904
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G |
Atrx |
ATRX chromatin remodeler |
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ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532 |
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NCBI chrNW_004955557:947,368...1,252,701
Ensembl chrNW_004955557:947,167...1,252,724
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G |
Chek2 |
checkpoint kinase 2 |
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ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:3313277 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11461078 PMID:11479205 PMID:11571648 PMID:11719428 PMID:11746983 PMID:11901158 PMID:11967536 PMID:12049740 PMID:12094328 PMID:12454775 PMID:12533788 PMID:12610780 PMID:12690581 PMID:12805407 PMID:14612911 PMID:14618615 PMID:14648717 PMID:14648718 PMID:14648719 PMID:14687034 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15239132 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:15649950 PMID:15810020 PMID:15818573 PMID:16199547 PMID:16257342 PMID:16492927 PMID:16551709 PMID:16574953 PMID:16816021 PMID:16835864 PMID:16880452 PMID:16883537 PMID:16914568 PMID:16941491 PMID:16982735 PMID:17085682 PMID:17517688 PMID:17698850 PMID:17721994 PMID:18058223 PMID:18085035 PMID:18172190 PMID:18281249 PMID:18381420 PMID:18484200 PMID:18571837 PMID:18706089 PMID:18725878 PMID:18725978 PMID:18759107 PMID:18930998 PMID:18996005 PMID:19030985 PMID:19338683 PMID:19768534 PMID:19782031 PMID:19805189 PMID:19876921 PMID:20417869 PMID:20713355 PMID:21059199 PMID:21244692 PMID:21356067 PMID:21514219 PMID:21562711 PMID:21618645 PMID:21744992 PMID:21778326 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058216 PMID:22058428 PMID:22114986 PMID:22419737 PMID:22799331 PMID:22811390 PMID:22901170 PMID:22994785 PMID:23109706 PMID:23296741 PMID:23318652 PMID:23334666 PMID:23469205 PMID:23555315 PMID:23652375 PMID:23713947 PMID:23806170 PMID:23946381 PMID:23960188 PMID:24033266 PMID:24113346 PMID:24390236 PMID:24506336 PMID:24556621 PMID:24599715 PMID:24628946 PMID:24713400 PMID:24728327 PMID:24763289 PMID:24880342 PMID:24884479 PMID:25085752 PMID:25117502 PMID:25186627 PMID:25231023 PMID:25318351 PMID:25431674 PMID:25452441 PMID:25503501 PMID:25525159 PMID:25583358 PMID:25629968 PMID:25741868 PMID:25798211 PMID:25884806 PMID:25980754 PMID:26083025 PMID:26084796 PMID:26094658 PMID:26270727 PMID:26446916 PMID:26467025 PMID:26506619 PMID:26534844 PMID:26580448 PMID:26644315 PMID:26681312 PMID:26687385 PMID:26689913 PMID:26787654 PMID:26822949 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27023146 PMID:27028851 PMID:27153395 PMID:27223485 PMID:27269948 PMID:27273131 PMID:27296296 PMID:27318168 PMID:27433846 PMID:27442652 PMID:27443514 PMID:27488870 PMID:27498913 PMID:27534895 PMID:27553368 PMID:27595995 PMID:27616075 PMID:27621404 PMID:27632928 PMID:27696107 PMID:27708748 PMID:27711073 PMID:27716369 PMID:27751358 PMID:27779110 PMID:27782108 PMID:27783279 PMID:27798748 PMID:27806230 PMID:27878467 PMID:27978560 PMID:28008555 PMID:28051113 PMID:28082821 PMID:28125075 PMID:28135139 PMID:28135145 PMID:28195393 PMID:28211887 PMID:28492532 PMID:28495237 PMID:28503720 PMID:28514723 PMID:28580595 PMID:28709830 PMID:28724667 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28828701 PMID:28873162 PMID:28874143 PMID:28944238 PMID:28961279 PMID:28981386 PMID:29020732 PMID:29095881 PMID:29212164 PMID:29335925 PMID:29338689 PMID:29351919 PMID:29356917 PMID:29368341 PMID:29439820 PMID:29470806 PMID:29484706 PMID:29489754 PMID:29506128 PMID:29520813 PMID:29522266 PMID:29596542 PMID:29659569 PMID:29667044 PMID:29752822 PMID:29758562 PMID:29785007 PMID:29785153 PMID:29875428 PMID:29902706 PMID:29909568 PMID:29915322 PMID:29922827 PMID:29945567 PMID:29958926 PMID:29961768 PMID:29978187 PMID:29987844 PMID:30067863 PMID:30128536 PMID:30152102 PMID:30256826 PMID:30264118 PMID:30287823 PMID:30303537 PMID:30322717 PMID:30322893 PMID:30344923 PMID:30374176 PMID:30426508 PMID:30441849 PMID:30580288 PMID:30613976 PMID:30666157 PMID:30672594 PMID:30676620 PMID:30826992 PMID:30851065 PMID:30927251 PMID:31050813 PMID:31090900 PMID:31159747 PMID:31206626 PMID:31214250 PMID:31214711 PMID:31220302 PMID:31263054 PMID:31263571 PMID:31300551 PMID:31360903 PMID:31398194 PMID:31409080 PMID:31415627 PMID:31422574 PMID:31447099 PMID:31472684 PMID:31512090 PMID:31614935 PMID:31742824 PMID:31780696 PMID:31811167 PMID:31843900 PMID:31844177 PMID:31871297 PMID:31948886 PMID:31980526 PMID:31993860 PMID:32029870 PMID:32091409 PMID:32119081 PMID:32243226 PMID:32255556 PMID:32283892 PMID:32285038 PMID:32295079 PMID:32310333 PMID:32338768 PMID:32383162 PMID:32521533 PMID:32531112 PMID:32546565 PMID:32566746 PMID:32658311 PMID:32659967 PMID:32830346 PMID:32832836 PMID:32875559 PMID:32885271 PMID:32906215 PMID:32957588 PMID:32959997 PMID:33030641 PMID:33077847 PMID:33128190 PMID:33134171 PMID:33158149 PMID:33179747 PMID:33309985 PMID:33326660 PMID:33471974 PMID:33471991 PMID:33558524 PMID:33606978 PMID:33670479 PMID:33692755 PMID:33726816 PMID:33803639 PMID:33804961 PMID:33986034 PMID:34008015 PMID:34130653 PMID:34282249 PMID:34299313 PMID:34308366 PMID:34326862 PMID:34570182 PMID:34622392 PMID:34630562 PMID:34903604 PMID:34933735 PMID:34992046 PMID:35264596 PMID:35402282 PMID:35441217 PMID:35495172 PMID:35534704 PMID:35643632 PMID:35886069 PMID:36035419 PMID:36136322 PMID:36222830 PMID:36315097 PMID:36360192 PMID:36468172 PMID:36653541 PMID:36717774 PMID:36845387 PMID:36988593 PMID:37055167 PMID:37149759 PMID:37262986 PMID:37449874 PMID:37490054 More...
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NCBI chrNW_004955455:2,969,113...3,008,004
Ensembl chrNW_004955455:2,969,270...3,003,173
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G |
Efemp2 |
EGF containing fibulin extracellular matrix protein 2 |
exacerbates disease_progression |
ISO |
mRNA, protein:increased expression:bone tissue (human ) protein:increased expression:bone tissue (human) |
RGD |
PMID:27157136 PMID:28339091 |
RGD:42722011 RGD:42722013 |
NCBI chrNW_004955422:19,463,090...19,470,605
Ensembl chrNW_004955422:19,463,987...19,470,605
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
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ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:19434073 PMID:19470925 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004955555:2,355,005...2,369,599
Ensembl chrNW_004955555:2,355,005...2,369,599
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G |
Rb1 |
RB transcriptional corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:1352883 PMID:2594029 PMID:2601691 PMID:7881418 PMID:9311732 PMID:9632788 PMID:9671401 PMID:9973307 PMID:10486322 PMID:10966849 PMID:12541220 PMID:12955724 PMID:14722923 PMID:15605413 PMID:15643604 PMID:15776430 PMID:15884040 PMID:16269091 PMID:16449662 PMID:16463005 PMID:17096365 PMID:17960112 PMID:18677112 PMID:18682685 PMID:20041224 PMID:20447117 PMID:22205104 PMID:22328814 PMID:22963398 PMID:23532519 PMID:24225018 PMID:24688104 PMID:24791139 PMID:25741868 PMID:25754945 PMID:25758528 PMID:26396485 PMID:26580448 PMID:26787237 PMID:26925970 PMID:27582626 PMID:27983729 PMID:28492532 PMID:28575107 PMID:28724667 PMID:28873162 PMID:29261756 PMID:30031154 PMID:32218800 PMID:33493472 PMID:34294096 More...
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NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
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G |
Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
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:8308926 PMID:8401536 PMID:8423216 PMID:8550239 PMID:8633021 PMID:8649776 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:17015838 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:18307025 PMID:18391940 PMID:18511570 PMID:19101993 PMID:19127115 PMID:19367569 PMID:19454241 PMID:19468865 PMID:19521721 PMID:19556618 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20128691 PMID:20407015 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20586629 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21113594 PMID:21118481 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21445056 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21672450 PMID:21761402 PMID:22006311 PMID:22110706 PMID:22186996 PMID:22233476 PMID:22672556 PMID:22698404 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22887876 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: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:25584008 PMID:25612911 PMID:25741868 PMID:25765855 PMID:25787918 PMID:25896519 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26467025 PMID:26580448 PMID:26585234 PMID:26619011 PMID:26681312 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27146902 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:28472496 PMID:28492532 PMID:28664506 PMID:28861920 PMID:28873162 PMID:28975465 PMID:29070607 PMID:29300620 PMID:29478780 PMID:29489754 PMID:29979965 PMID:30076369 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30816478 PMID:31105275 PMID:31321604 PMID:31775759 PMID:31882575 PMID:31983162 PMID:32000721 PMID:32156018 PMID:32475984 PMID:32817165 PMID:32888145 PMID:32906206 PMID:33087929 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33372952 PMID:33471991 PMID:33840814 PMID:34088725 PMID:34503094 PMID:34529667 PMID:34709361 PMID:35043155 PMID:35802772 PMID:35974385 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 More...
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NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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G |
Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:25741868 PMID:26822237 |
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NCBI chrNW_004955442:15,178,356...15,216,978
Ensembl chrNW_004955442:15,178,487...15,216,362
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G |
Grm1 |
glutamate metabotropic receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24658000 |
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NCBI chrNW_004955436:14,264,470...14,377,581
Ensembl chrNW_004955436:14,264,387...14,644,622
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G |
Eef2 |
eukaryotic translation elongation factor 2 |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:24589652 |
RGD:153297816 |
NCBI chrNW_004955495:4,800,103...4,807,714
Ensembl chrNW_004955495:4,799,922...4,807,252
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G |
Ncam1 |
neural cell adhesion molecule 1 |
disease_progression |
ISO |
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RGD |
PMID:20219118 |
RGD:40924672 |
NCBI chrNW_004955412:14,630,109...14,923,847
Ensembl chrNW_004955412:14,630,443...14,923,926
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
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ISO |
human, rat, and/or mouse glioma cells in a mouse model |
RGD |
PMID:30790292 |
RGD:150573813 |
NCBI chrNW_004955485:7,805,244...7,925,414
Ensembl chrNW_004955485:7,808,131...7,925,677
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
ISO |
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RGD |
PMID:27255231 PMID:29324390 |
RGD:13792502 RGD:13792598 |
NCBI chrNW_004955559:1,695,960...1,700,246
Ensembl chrNW_004955559:1,695,960...1,700,244
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G |
Bcl2 |
BCL2 apoptosis regulator |
treatment |
ISO |
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RGD |
PMID:27255231 PMID:29324390 |
RGD:13792502 RGD:13792598 |
NCBI chrNW_004955402:46,911,125...47,084,214
Ensembl chrNW_004955402:46,916,266...47,084,485
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G |
Birc3 |
baculoviral IAP repeat containing 3 |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chrNW_004955412:5,624,865...5,643,520
Ensembl chrNW_004955412:5,628,973...5,643,410
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G |
Casp3 |
caspase 3 |
treatment |
ISO |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chrNW_004955403:24,315,712...24,326,271
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G |
Fadd |
Fas associated via death domain |
treatment |
ISO |
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RGD |
PMID:27255231 |
RGD:13792502 |
NCBI chrNW_004955422:16,026,323...16,035,808
Ensembl chrNW_004955422:16,031,280...16,036,281
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G |
Fas |
Fas cell surface death receptor |
treatment |
ISO |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chrNW_004955425:3,961,671...3,987,513
Ensembl chrNW_004955425:3,961,013...3,987,455
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G |
Faslg |
Fas ligand |
treatment |
ISO |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chrNW_004955406:13,098,479...13,107,045
Ensembl chrNW_004955406:13,098,662...13,107,389
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G |
Foxa1 |
forkhead box A1 |
disease_progression |
ISO |
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RGD |
PMID:23510544 |
RGD:151665742 |
NCBI chrNW_004955409:23,598,127...23,599,827
Ensembl chrNW_004955409:23,598,127...23,599,461
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G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
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ISO |
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RGD |
PMID:26032618 |
RGD:13792685 |
NCBI chrNW_004955413:4,162,467...4,166,783
Ensembl chrNW_004955413:4,162,467...4,166,783
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G |
Kdr |
kinase insert domain receptor |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:33900414 |
RGD:151660356 |
NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
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G |
Naip |
NLR family apoptosis inhibitory protein |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chrNW_004955575:249,659...283,378
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G |
Ptprb |
protein tyrosine phosphatase receptor type B |
|
ISO |
protein:increased expression:brain (human) human cell in mouse model |
RGD |
PMID:16923162 PMID:33900414 |
RGD:151660356 RGD:151660368 |
NCBI chrNW_004955405:10,647,777...10,766,909
Ensembl chrNW_004955405:10,648,818...10,766,993
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:33900414 |
RGD:151660356 |
NCBI chrNW_004955437:9,527,445...9,541,908
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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 chrNW_004955555:1,293,416...1,315,839
Ensembl chrNW_004955555:1,293,416...1,315,839
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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 chrNW_004955538:2,499,297...2,511,898
Ensembl chrNW_004955538:2,501,607...2,509,778
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Pax3 |
paired box 3 |
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ISO |
mRNA,protein:increased expression:brain stem: |
RGD |
PMID:25330836 |
RGD:13702891 |
NCBI chrNW_004955453:11,463,407...11,558,001
Ensembl chrNW_004955453:11,463,379...11,558,006
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Pdgfra |
platelet derived growth factor receptor alpha |
severity |
ISO |
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RGD |
PMID:20197468 |
RGD:13702892 |
NCBI chrNW_004955447:16,570,652...16,613,410
Ensembl chrNW_004955447:16,569,909...16,612,373
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Kdr |
kinase insert domain receptor |
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ISO |
DNA:mutation:multiple (human) |
RGD |
PMID:32123305 |
RGD:151665102 |
NCBI chrNW_004955447:15,810,816...15,851,702
Ensembl chrNW_004955447:15,810,815...15,853,583
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Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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ISO |
DNA:mutation:multiple (human) |
RGD |
PMID:32123305 |
RGD:151665102 |
NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
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Ptprb |
protein tyrosine phosphatase receptor type B |
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ISO |
DNA:mutation:multiple (human) |
RGD |
PMID:32123305 |
RGD:151665102 |
NCBI chrNW_004955405:10,647,777...10,766,909
Ensembl chrNW_004955405:10,648,818...10,766,993
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Wnt7b |
Wnt family member 7B |
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ISO |
mRNA:increased expression:tumor:increased in 10% of malignant neoplasms vs normal tissue and fibroadenomas |
RGD |
PMID:8168088 |
RGD:2291878 |
NCBI chrNW_004955413:30,146,185...30,185,693
Ensembl chrNW_004955413:30,144,869...30,181,791
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Akt3 |
AKT serine/threonine kinase 3 |
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ISO |
ClinVar Annotator: match by term: Capillary hemangioma |
ClinVar |
PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 PMID:28969385 PMID:29286531 PMID:29758562 PMID:33176815 More...
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NCBI chrNW_004955406:6,907,876...7,163,672
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Ccn1 |
cellular communication network factor 1 |
disease_progression |
ISO |
mRNA:increased expression:skin (human) |
RGD |
PMID:33587560 |
RGD:329845523 |
NCBI chrNW_004955423:8,416,498...8,419,029
Ensembl chrNW_004955423:8,413,725...8,419,166
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Npc1 |
NPC intracellular cholesterol transporter 1 |
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ISO |
ClinVar Annotator: match by term: Capillary hemangioma |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955402:11,699,434...11,742,899
Ensembl chrNW_004955402:11,699,434...11,742,899
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Tgfb1 |
transforming growth factor beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15132766 |
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NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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Vim |
vimentin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15132766 |
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NCBI chrNW_004955429:10,708,852...10,716,743
Ensembl chrNW_004955429:10,707,719...10,717,554
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Fam20a |
FAM20A golgi associated secretory pathway pseudokinase |
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ISO |
ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 |
ClinVar |
PMID:11115848 PMID:19293268 PMID:24170103 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955478:4,182,568...4,236,819
Ensembl chrNW_004955478:4,182,568...4,236,819
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Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: CARNEY MYXOMA-ENDOCRINE COMPLEX | ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1 | ClinVar Annotator: match by term: Carney myxoma-endocrine complex | ClinVar Annotator: match by term: Myxoma, spotty pigmentation, and endocrine overactivity |
OMIM ClinVar |
PMID:9536098 PMID:10973256 PMID:10974026 PMID:11115848 PMID:12213893 PMID:12424709 PMID:12950501 PMID:15371594 PMID:15992699 PMID:16199547 PMID:16569736 PMID:17396442 PMID:17576681 PMID:18056771 PMID:18223213 PMID:18241045 PMID:18445140 PMID:19265501 PMID:19293268 PMID:19539840 PMID:20358582 PMID:20924687 PMID:21047926 PMID:21651393 PMID:21850686 PMID:21900385 PMID:22112814 PMID:22259056 PMID:22341669 PMID:22464250 PMID:22464252 PMID:22723333 PMID:22785148 PMID:23043190 PMID:23425300 PMID:23942052 PMID:24033266 PMID:24144965 PMID:24170103 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26354069 PMID:26405036 PMID:26822237 PMID:27589370 PMID:27825928 PMID:27930734 PMID:28051113 PMID:28255981 PMID:28492532 PMID:28518168 PMID:28640241 PMID:28804209 PMID:29264456 PMID:30426508 PMID:32191290 PMID:32287321 PMID:32461654 PMID:34313605 PMID:35586626 More...
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NCBI chrNW_004955478:4,241,283...4,262,119
Ensembl chrNW_004955478:4,241,283...4,263,087
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Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
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...
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NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494
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Sdhb |
succinate dehydrogenase complex iron sulfur subunit B |
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ISO |
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:24623741 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:28873162 PMID:29386252 PMID:30050099 PMID:30201732 PMID:31308404 More...
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NCBI chrNW_004955527:1,769,280...1,792,496
Ensembl chrNW_004955527:1,768,940...1,792,361
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Sdhc |
succinate dehydrogenase complex subunit C |
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ISO |
ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA |
ClinVar |
PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532 More...
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NCBI chrNW_004955468:13,050,359...13,083,932
Ensembl chrNW_004955468:13,049,848...13,083,156
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Alg9 |
ALG9 alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,510,714...13,599,216
Ensembl chrNW_004955412:13,514,342...13,598,909
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Btg4 |
BTG anti-proliferation factor 4 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,137,273...13,250,261
Ensembl chrNW_004955412:13,183,524...13,247,882
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Cfap68 |
cilia and flagella associated protein 68 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,605,526...13,609,865
Ensembl chrNW_004955412:13,605,819...13,612,070
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Cryab |
crystallin alpha B |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,626,018...13,629,495
Ensembl chrNW_004955412:13,625,363...13,640,426
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G |
CUNH11orf52 |
chromosome unknown C11orf52 homolog |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,635,088...13,640,604
Ensembl chrNW_004955412:13,634,794...13,640,962
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G |
Dixdc1 |
DIX domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,640,693...13,713,926
Ensembl chrNW_004955412:13,642,078...13,711,850
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Dlat |
dihydrolipoamide S-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,718,091...13,746,220
Ensembl chrNW_004955412:13,718,067...13,744,239
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Fdxacb1 |
ferredoxin-fold anticodon binding domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,601,032...13,605,418
Ensembl chrNW_004955412:13,598,231...13,605,395
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Hoatz |
HOATZ cilia and flagella associated protein |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,254,671...13,275,832
Ensembl chrNW_004955412:13,258,703...13,275,876
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Hspb2 |
heat shock protein family B (small) member 2 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,628,098...13,631,575
Ensembl chrNW_004955412:13,628,098...13,631,727
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Layn |
layilin |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,282,871...13,298,214
Ensembl chrNW_004955412:13,280,327...13,297,833
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Mpz |
myelin protein zero |
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ISO |
ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor |
ClinVar |
PMID:12807974 PMID:17468193 PMID:23342407 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955468:13,041,911...13,047,026
Ensembl chrNW_004955468:13,041,011...13,047,284
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Nkapd1 |
NKAP domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,755,704...13,765,047
Ensembl chrNW_004955412:13,755,817...13,765,047
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Pih1d2 |
PIH1 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,748,120...13,755,498
Ensembl chrNW_004955412:13,748,325...13,754,130
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Pou2af1 |
POU class 2 homeobox associating factor 1 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,131,229...13,167,150
Ensembl chrNW_004955412:13,131,168...13,156,128
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Pou2af3 |
POU class 2 homeobox associating factor 3 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,090,206...13,098,642
Ensembl chrNW_004955412:13,090,206...13,098,826
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Ppp2r1b |
protein phosphatase 2 scaffold subunit Abeta |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,458,078...13,494,583
Ensembl chrNW_004955412:13,458,136...13,494,585
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Sdhb |
succinate dehydrogenase complex iron sulfur subunit B |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor |
OMIM ClinVar |
PMID:9509062 PMID:11404820 PMID:11897817 PMID:12362046 PMID:12364472 PMID:12618761 PMID:14500403 PMID:14715873 PMID:14985401 PMID:15328326 PMID:15383933 PMID:16199547 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16472267 PMID:16912137 PMID:17102082 PMID:17102083 PMID:17200167 PMID:17298551 PMID:17376234 PMID:17487275 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17943698 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18551016 PMID:18678321 PMID:18728283 PMID:18840642 PMID:19215943 PMID:19258401 PMID:19351833 PMID:19368708 PMID:19399650 PMID:19411806 PMID:19454582 PMID:19576851 PMID:19694205 PMID:19802898 PMID:19825962 PMID:20208144 PMID:20418362 PMID:20459544 PMID:20540712 PMID:20592014 PMID:20614293 PMID:20923864 PMID:21348866 PMID:21565294 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22270996 PMID:22517554 PMID:22677546 PMID:22703879 PMID:22835832 PMID:22904323 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23512077 PMID:23660872 PMID:23666964 PMID:24033266 PMID:24055113 PMID:24092654 PMID:24102379 PMID:24466223 PMID:24509376 PMID:24606901 PMID:24659481 PMID:24728327 PMID:24939699 PMID:25047027 PMID:25326637 PMID:25333069 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25741868 PMID:25972245 PMID:26092435 PMID:26259135 PMID:26269449 PMID:26283294 PMID:26332594 PMID:26467025 PMID:26556299 PMID:26719882 PMID:27011036 PMID:27171833 PMID:27539324 PMID:27573198 PMID:27604842 PMID:28070496 PMID:28324028 PMID:28374168 PMID:28492532 PMID:28503760 PMID:28738844 PMID:28819017 PMID:28873162 PMID:29386252 PMID:29909963 PMID:29951630 PMID:30050099 PMID:30087776 PMID:30152102 PMID:30201732 PMID:30877234 PMID:31365623 PMID:31492822 PMID:31666924 PMID:32460727 PMID:32741965 PMID:32963463 PMID:33300499 PMID:33362715 PMID:34118692 PMID:34439168 PMID:34439371 PMID:34466344 PMID:34654328 PMID:34906457 PMID:35441217 More...
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NCBI chrNW_004955527:1,769,280...1,792,496
Ensembl chrNW_004955527:1,768,940...1,792,361
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Sdhc |
succinate dehydrogenase complex subunit C |
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ISO |
ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor |
OMIM ClinVar |
PMID:9536098 PMID:12658451 PMID:12807974 PMID:17468193 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17898811 PMID:19454582 PMID:21173220 PMID:23083876 PMID:23282968 PMID:23342407 PMID:24033266 PMID:24402737 PMID:24423348 PMID:24523625 PMID:24758179 PMID:25024072 PMID:25741868 PMID:26173966 PMID:26273102 PMID:26467025 PMID:27700540 PMID:28492532 PMID:28819017 PMID:30548481 PMID:34750850 More...
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NCBI chrNW_004955468:13,050,359...13,083,932
Ensembl chrNW_004955468:13,049,848...13,083,156
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G |
Sdhd |
succinate dehydrogenase complex subunit D |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor |
OMIM ClinVar |
PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11605159 PMID:11897812 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12114404 PMID:12218630 PMID:12386824 PMID:12509798 PMID:12696072 PMID:12782822 PMID:12807974 PMID:12811540 PMID:14557476 PMID:14974914 PMID:14985401 PMID:15032977 PMID:15066320 PMID:15235042 PMID:15328326 PMID:15331017 PMID:15479192 PMID:15531530 PMID:15623805 PMID:15905695 PMID:15989954 PMID:16061558 PMID:16080474 PMID:16199547 PMID:16314641 PMID:16317055 PMID:17041923 PMID:17102082 PMID:17102085 PMID:17208193 PMID:17308434 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17973943 PMID:18211978 PMID:18213727 PMID:18414213 PMID:18551016 PMID:18561749 PMID:18678321 PMID:18692411 PMID:18826997 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19393419 PMID:19454582 PMID:19550080 PMID:19584903 PMID:19802898 PMID:19825962 PMID:19936639 PMID:20098451 PMID:20111059 PMID:20208144 PMID:20301715 PMID:20418362 PMID:20842377 PMID:21318381 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22025150 PMID:22041456 PMID:22138625 PMID:22170724 PMID:22241717 PMID:22290790 PMID:22382802 PMID:22456618 PMID:22517554 PMID:22517557 PMID:22566194 PMID:22575350 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23433498 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24134185 PMID:24367056 PMID:24436918 PMID:24728327 PMID:24735130 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25328978 PMID:25376524 PMID:25494863 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25741136 PMID:25741868 PMID:25758995 PMID:25791839 PMID:25819804 PMID:25985138 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26273102 PMID:26467025 PMID:27153395 PMID:27279923 PMID:27539324 PMID:27634942 PMID:27785149 PMID:27986441 PMID:28128698 PMID:28164237 PMID:28179334 PMID:28492532 PMID:28748451 PMID:28873162 PMID:28975465 PMID:28977582 PMID:29386252 PMID:29510530 PMID:29545045 PMID:29625052 PMID:29681642 PMID:29777207 PMID:29792313 PMID:29875428 PMID:29925701 PMID:30050099 PMID:30093976 PMID:30172768 PMID:30273935 PMID:30375904 PMID:30484866 PMID:30548481 PMID:30877234 PMID:30951038 PMID:31104306 PMID:31194233 PMID:31212687 PMID:31492822 PMID:31508186 PMID:31666924 PMID:32035780 PMID:32098148 PMID:32472550 PMID:32659967 PMID:32741965 PMID:32948182 PMID:32948195 PMID:33219105 PMID:33362715 PMID:33397040 PMID:33745191 PMID:33748650 PMID:34012134 PMID:34439168 PMID:34877445 PMID:34906457 PMID:35060925 PMID:35460558 PMID:35626065 PMID:35938916 PMID:36614070 More...
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NCBI chrNW_004955412:13,768,501...13,778,944
Ensembl chrNW_004955412:13,768,501...13,778,932
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Sik2 |
salt inducible kinase 2 |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,342,032...13,458,076
Ensembl chrNW_004955412:13,342,032...13,457,563
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Timm8b |
translocase of inner mitochondrial membrane 8 homolog B |
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ISO |
ClinVar Annotator: match by term: Carney-Stratakis syndrome |
ClinVar |
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
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NCBI chrNW_004955412:13,766,532...13,768,453
Ensembl chrNW_004955412:13,766,532...13,768,453
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Dhfr |
dihydrofolate reductase |
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ISO |
ClinVar Annotator: match by term: Cavernous sinus meningioma |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 |
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NCBI chrNW_004955418:29,274,170...29,283,028
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Kmt2d |
lysine methyltransferase 2D |
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ISO |
ClinVar Annotator: match by term: Cavernous sinus meningioma |
ClinVar |
PMID:21671394 PMID:22126750 PMID:28492532 |
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NCBI chrNW_004955500:7,850,782...7,891,703
Ensembl chrNW_004955500:7,853,292...7,886,067
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Msh3 |
mutS homolog 3 |
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ISO |
ClinVar Annotator: match by term: Cavernous sinus meningioma |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758 |
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NCBI chrNW_004955418:29,149,595...29,274,067
Ensembl chrNW_004955418:29,150,085...29,274,437
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Vhl |
von Hippel-Lindau tumor suppressor |
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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...
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NCBI chrNW_004955561:1,573,525...1,578,295
Ensembl chrNW_004955561:1,573,525...1,580,511
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Msh6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Cerebellar medulloblastoma |
ClinVar |
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NCBI chrNW_004955441:14,451,207...14,471,316
Ensembl chrNW_004955441:14,451,307...14,471,227
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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 |
RGD:152985535 |
NCBI chrNW_004955528:531,680...578,003
Ensembl chrNW_004955528:532,385...572,398
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Mapk1 |
mitogen-activated protein kinase 1 |
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ISO |
protein:increased expression:brain: |
RGD |
PMID:21466243 |
RGD:13702864 |
NCBI chrNW_004955442:17,284,232...17,380,026
Ensembl chrNW_004955442:17,284,232...17,380,020
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H3f3b |
H3 histone, family 3B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24162739 |
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NCBI chrNW_004955506:6,475,336...6,478,781
Ensembl chrNW_004955506:6,474,727...6,482,244
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Myl3 |
myosin light chain 3 |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
ClinVar |
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NCBI chrNW_004955420:25,308,513...25,311,959
Ensembl chrNW_004955420:25,305,759...25,312,271
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Pth1r |
parathyroid hormone 1 receptor |
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ISO |
ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
OMIM ClinVar |
PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 PMID:10523019 PMID:17164305 PMID:17576681 PMID:18559376 PMID:21404329 PMID:23771181 PMID:25741868 PMID:28492532 PMID:31986066 More...
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NCBI chrNW_004955420:25,274,269...25,291,984
Ensembl chrNW_004955420:25,273,431...25,296,471
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Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22057234 PMID:25895133 |
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NCBI chrNW_004955457:6,851,542...6,869,452
Ensembl chrNW_004955457:6,851,517...6,872,367
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Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22057234 PMID:25895133 |
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NCBI chrNW_004955416:15,197,611...15,212,919
Ensembl chrNW_004955416:15,197,366...15,223,363
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Ihh |
Indian hedgehog signaling molecule |
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ISO |
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RGD |
PMID:26091072 |
RGD:12910968 |
NCBI chrNW_004955453:14,376,665...14,382,536
Ensembl chrNW_004955453:14,376,718...14,381,747
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Ptpn11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human) |
RGD |
PMID:20577567 |
RGD:11069623 |
NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
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Smo |
smoothened, frizzled class receptor |
treatment |
ISO |
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RGD |
PMID:26091072 |
RGD:12910968 |
NCBI chrNW_004955479:9,963,377...9,991,670
Ensembl chrNW_004955479:9,964,170...9,993,165
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Chi3l1 |
chitinase 3 like 1 |
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ISO |
mRNA:increased expression:tumor (human) |
RGD |
PMID:12598313 |
RGD:4892624 |
NCBI chrNW_004955406:39,195,101...39,201,808
Ensembl chrNW_004955406:39,191,073...39,202,020
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Col2a1 |
collagen type II alpha 1 chain |
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ISO |
CTD Direct Evidence: marker/mechanism DNA:mutations:multiple (human) |
CTD RGD |
PMID:23770606 |
RGD:8657387 |
NCBI chrNW_004955500:6,860,771...6,885,466
Ensembl chrNW_004955500:6,860,771...6,885,473
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Ext1 |
exostosin glycosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Chondrosarcoma | ClinVar Annotator: match by term: Chondrosarcoma, somatic |
OMIM ClinVar |
PMID:7550340 PMID:8981950 PMID:9521425 PMID:10679937 PMID:11170095 PMID:11391482 PMID:15586175 PMID:16088908 PMID:17301954 PMID:18165274 PMID:19810120 PMID:23439489 PMID:24728327 PMID:25468659 PMID:25541963 PMID:25727835 PMID:25741868 PMID:28492532 PMID:29126381 More...
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NCBI chrNW_004955417:23,798,044...24,067,759
Ensembl chrNW_004955417:23,798,393...24,067,100
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
protein:increased expression:growth plate |
RGD |
PMID:17907424 |
RGD:11568634 |
NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
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Mtor |
mechanistic target of rapamycin kinase |
disease_progression |
ISO |
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RGD |
PMID:22761648 |
RGD:10040952 |
NCBI chrNW_004955486:2,487,642...2,599,694
Ensembl chrNW_004955486:2,487,642...2,599,694
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Taf15 |
TATA-box binding protein associated factor 15 |
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ISO |
extraskeletal myxoid chondrosarcomas (EMC) |
RGD |
PMID:10602519 |
RGD:1599281 |
NCBI chrNW_004955481:10,242,839...10,274,961
Ensembl chrNW_004955481:10,252,393...10,274,860
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Prkca |
protein kinase C alpha |
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ISO |
DNA:mutation:cds:c.1387G>C,p.D463H(human) |
RGD |
PMID:29476136 |
RGD:13782058 |
NCBI chrNW_004955478:5,686,639...6,090,356
Ensembl chrNW_004955478:5,686,640...6,083,967
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Brca2 |
BRCA2 DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Chordoma |
ClinVar |
PMID:186727 PMID:10923033 PMID:11304778 PMID:11873550 PMID:11920621 PMID:12100744 PMID:12161607 PMID:12228710 PMID:12442265 PMID:12442273 PMID:12774040 PMID:15172753 PMID:15645491 PMID:15800311 PMID:15944772 PMID:16205630 PMID:16683254 PMID:17018160 PMID:17924331 PMID:17997147 PMID:18256760 PMID:18451181 PMID:19043619 PMID:19200354 PMID:19563646 PMID:19656415 PMID:20104584 PMID:21120943 PMID:21520333 PMID:21638052 PMID:21702907 PMID:21719596 PMID:21952622 PMID:21990134 PMID:22194698 PMID:22366370 PMID:22476429 PMID:22703879 PMID:22798144 PMID:22811390 PMID:23108138 PMID:24212087 PMID:24249303 PMID:24259538 PMID:24323938 PMID:24448499 PMID:24489791 PMID:24504028 PMID:24556621 PMID:24728189 PMID:24728327 PMID:25447315 PMID:25682074 PMID:25741868 PMID:25782689 PMID:25863477 PMID:25948282 PMID:26109977 PMID:26145171 PMID:26287763 PMID:26467025 PMID:26681312 PMID:27062684 PMID:27153395 PMID:27376475 PMID:27616075 PMID:28492532 PMID:29348823 PMID:29394989 PMID:29446198 PMID:29785135 PMID:29884841 PMID:29988080 PMID:30032850 PMID:30287823 PMID:30309222 PMID:30447919 PMID:30702160 PMID:31060523 PMID:31131967 PMID:31214711 PMID:31409081 PMID:31742824 PMID:31843900 PMID:31911673 PMID:32885271 PMID:33293522 PMID:33372952 PMID:33471991 PMID:33609447 PMID:34178674 PMID:34350294 PMID:34970085 PMID:35736817 PMID:35762214 PMID:36721989 PMID:36988593 PMID:37922907 More...
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NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
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Mn1 |
MN1 proto-oncogene, transcriptional regulator |
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ISO |
ClinVar Annotator: match by term: Chordoma |
ClinVar |
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NCBI chrNW_004955455:2,130,104...2,171,868
Ensembl chrNW_004955455:2,127,377...2,171,850
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Palb2 |
partner and localizer of BRCA2 |
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ISO |
ClinVar Annotator: match by term: Chordoma |
ClinVar |
PMID:25085752 PMID:25741868 PMID:26283626 PMID:26315354 PMID:27106063 PMID:27443514 PMID:28492532 PMID:28779002 PMID:29522266 PMID:30303537 PMID:30680046 PMID:31636395 PMID:32546565 PMID:33471991 PMID:34284872 PMID:35762214 More...
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NCBI chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781
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Tbxt |
T-box transcription factor T |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19801981 PMID:23064415 |
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NCBI chrNW_004955439:15,675,680...15,683,542
Ensembl chrNW_004955439:15,676,095...15,683,554
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Fgf8 |
fibroblast growth factor 8 |
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ISO |
protein:increased expression:testicular germ cell neoplasms |
RGD |
PMID:11764380 |
RGD:2289339 |
NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770
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Igf2 |
insulin like growth factor 2 |
disease_progression |
ISO |
protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR |
RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
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Insr |
insulin receptor |
disease_progression |
ISO |
protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR |
RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chrNW_004955563:1,867,400...2,011,845
Ensembl chrNW_004955563:1,867,400...2,009,149
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
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Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chrNW_004955415:4,365,848...4,403,317
Ensembl chrNW_004955415:4,365,743...4,403,587
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Timp3 |
TIMP metallopeptidase inhibitor 3 |
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ISO |
DNA, protein:hypermethylation, decreased expression:promoter, placenta |
RGD |
PMID:15507671 |
RGD:2290418 |
NCBI chrNW_004955405:41,613,976...41,655,813
Ensembl chrNW_004955405:41,613,966...41,655,813
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Acod1 |
aconitate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:30,254,934...30,266,898
Ensembl chrNW_004955404:30,254,841...30,270,921
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Alg11 |
ALG11 alpha-1,2-mannosyltransferase |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:5,297,477...5,320,653
Ensembl chrNW_004955431:5,297,715...5,306,590
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Arl11 |
ARF like GTPase 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:3,086,983...3,090,423
Ensembl chrNW_004955431:3,086,983...3,090,423
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Atp7b |
ATPase copper transporting beta |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:5,228,395...5,297,120
Ensembl chrNW_004955431:5,229,126...5,269,616
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Bora |
BORA aurora kinase A activator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:33,923,496...33,946,113
Ensembl chrNW_004955404:33,924,533...33,946,346
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Cab39l |
calcium binding protein 39 like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:2,781,714...2,899,857
Ensembl chrNW_004955431:2,780,839...2,889,769
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Ccdc70 |
coiled-coil domain containing 70 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:5,166,451...5,170,263
Ensembl chrNW_004955431:5,166,451...5,170,263
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Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:2,724,988...2,767,539
Ensembl chrNW_004955431:2,725,742...2,767,664
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Ckap2 |
cytoskeleton associated protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:5,416,596...5,429,465
Ensembl chrNW_004955431:5,418,103...5,427,463
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Cln5 |
CLN5 intracellular trafficking protein |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:30,229,632...30,235,677
Ensembl chrNW_004955404:30,229,632...30,235,679
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Cnmd |
chondromodulin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:50,864,017...50,889,249
Ensembl chrNW_004955404:50,863,651...50,889,249
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Commd6 |
COMM domain containing 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:31,473,054...31,487,169
Ensembl chrNW_004955404:31,473,114...31,477,936
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Cysltr2 |
cysteinyl leukotriene receptor 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:2,203,342...2,282,635
Ensembl chrNW_004955431:2,263,698...2,282,635
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Dach1 |
dachshund family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:34,739,780...35,118,037
Ensembl chrNW_004955404:34,740,026...35,137,490
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Diaph3 |
diaphanous related formin 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:44,653,308...45,106,943
Ensembl chrNW_004955404:44,653,501...45,105,966
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Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:33,897,681...33,924,069
Ensembl chrNW_004955404:33,897,237...33,924,069
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Dleu7 |
deleted in lymphocytic leukemia 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:4,205,391...4,220,305
Ensembl chrNW_004955431:4,204,901...4,220,311
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Ebpl |
EBP like |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:3,114,160...3,122,448
Ensembl chrNW_004955431:3,112,134...3,121,780
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Ednrb |
endothelin receptor type B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:29,394,253...29,425,358
Ensembl chrNW_004955404:29,394,164...29,425,358
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Fam124a |
family with sequence similarity 124 member A |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:4,585,518...4,633,567
Ensembl chrNW_004955431:4,585,466...4,636,017
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Fbxl3 |
F-box and leucine rich repeat protein 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:30,215,140...30,229,798
Ensembl chrNW_004955404:30,215,108...30,229,798
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Fndc3a |
fibronectin type III domain containing 3A |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:2,553,311...2,696,596
Ensembl chrNW_004955431:2,553,892...2,696,744
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Ints6 |
integrator complex subunit 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:4,728,011...4,810,236
Ensembl chrNW_004955431:4,728,533...4,809,494
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Itm2b |
integral membrane protein 2B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:1,928,706...1,935,010
Ensembl chrNW_004955431:1,928,706...1,937,238
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Kcnrg |
potassium channel regulator |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:3,395,920...3,402,494
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Kctd12 |
potassium channel tetramerization domain containing 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:30,325,019...30,330,953
Ensembl chrNW_004955404:30,325,144...30,326,121
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Klf12 |
KLF transcription factor 12 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:32,715,636...33,127,525
Ensembl chrNW_004955404:32,854,754...33,118,361
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Klf5 |
KLF transcription factor 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:33,642,604...33,665,445
Ensembl chrNW_004955404:33,644,077...33,658,094
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Klhl1 |
kelch like family member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:36,304,862...36,696,901
Ensembl chrNW_004955404:36,304,326...36,697,236
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Kpna3 |
karyopherin subunit alpha 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:3,147,679...3,176,577
Ensembl chrNW_004955431:3,147,679...3,212,306
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Lmo7 |
LIM domain 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:31,197,156...31,388,571
Ensembl chrNW_004955404:31,196,312...31,388,258
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Lpar6 |
lysophosphatidic acid receptor 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:2,077,093...2,079,000
Ensembl chrNW_004955431:2,077,269...2,078,300
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Med4 |
mediator complex subunit 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:1,794,863...1,812,641
Ensembl chrNW_004955431:1,794,115...1,812,889
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Mlnr |
motilin receptor |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:2,711,418...2,719,062
Ensembl chrNW_004955431:2,710,962...2,713,603
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Mycbp2 |
MYC binding protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:29,932,125...30,186,236
Ensembl chrNW_004955404:29,932,125...30,186,236
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Mzt1 |
mitotic spindle organizing protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:33,945,576...33,961,922
Ensembl chrNW_004955404:33,944,833...33,962,729
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G |
Ndfip2 |
Nedd4 family interacting protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:27,981,215...28,051,238
Ensembl chrNW_004955404:27,979,187...28,051,561
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Nek3 |
NIMA related kinase 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:5,382,992...5,412,206
Ensembl chrNW_004955431:5,378,896...5,412,221
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Nek5 |
NIMA related kinase 5 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:5,312,243...5,378,998
Ensembl chrNW_004955431:5,318,987...5,377,398
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Nudt15 |
nudix hydrolase 15 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:1,767,971...1,775,555
Ensembl chrNW_004955431:1,767,525...1,775,555
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Obi1 |
ORC ubiquitin ligase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:28,759,640...28,803,257
Ensembl chrNW_004955404:28,758,918...28,804,972
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Olfm4 |
olfactomedin 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:50,549,218...50,570,302
Ensembl chrNW_004955404:50,549,151...50,570,305
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G |
Pcdh17 |
protocadherin 17 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:46,795,303...46,886,918
Ensembl chrNW_004955404:46,791,148...46,886,918
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Pcdh20 |
protocadherin 20 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:43,615,300...43,623,119
Ensembl chrNW_004955404:43,611,537...43,623,286
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G |
Pcdh8 |
protocadherin 8 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:50,403,752...50,413,264
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G |
Pcdh9 |
protocadherin 9 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:38,666,480...39,534,211
Ensembl chrNW_004955404:38,667,015...39,532,423
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G |
Phf11 |
PHD finger protein 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:2,945,119...2,974,767
Ensembl chrNW_004955431:2,951,722...2,974,131
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G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:33,713,903...33,897,622
Ensembl chrNW_004955404:33,714,193...33,897,622
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Pou4f1 |
POU class 4 homeobox 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:28,812,762...28,818,024
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G |
Rb1 |
RB transcriptional corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
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Rbm26 |
RNA binding motif protein 26 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:28,116,009...28,198,878
Ensembl chrNW_004955404:28,114,576...28,198,856
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Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:2,976,283...3,080,665
Ensembl chrNW_004955431:2,976,283...3,080,405
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G |
Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:2,122,640...2,170,222
Ensembl chrNW_004955431:2,129,006...2,162,854
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G |
Rnaseh2b |
ribonuclease H2 subunit B |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:4,291,687...4,368,169
Ensembl chrNW_004955431:4,291,688...4,351,178
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G |
Scel |
sciellin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:29,619,710...29,727,873
Ensembl chrNW_004955404:29,620,693...29,728,006
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Serpine3 |
serpin family E member 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:4,694,654...4,727,080
Ensembl chrNW_004955431:4,694,654...4,727,080
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G |
Setdb2 |
SET domain bifurcated histone lysine methyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:2,899,849...2,943,091
Ensembl chrNW_004955431:2,813,602...2,945,323
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G |
Slain1 |
SLAIN motif family member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:29,537,497...29,594,617
Ensembl chrNW_004955404:29,535,923...29,595,141
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G |
Slitrk1 |
SLIT and NTRK like family member 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:24,436,394...24,439,749
Ensembl chrNW_004955404:24,437,299...24,439,389
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Slitrk6 |
SLIT and NTRK like family member 6 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:22,738,080...22,744,601
Ensembl chrNW_004955404:22,737,974...22,745,046
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G |
Spry2 |
sprouty RTK signaling antagonist 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:27,349,286...27,353,706
Ensembl chrNW_004955404:27,349,519...27,353,706
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Spryd7 |
SPRY domain containing 7 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:3,303,091...3,330,360
Ensembl chrNW_004955431:3,303,091...3,324,994
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Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:1,678,720...1,737,234
Ensembl chrNW_004955431:1,676,362...1,737,489
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Sugt1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:50,916,715...50,947,619
Ensembl chrNW_004955404:50,917,177...50,947,522
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G |
Tbc1d4 |
TBC1 domain family member 4 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:31,516,727...31,691,414
Ensembl chrNW_004955404:31,622,102...31,691,517
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Tdrd3 |
tudor domain containing 3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:44,329,159...44,457,958
Ensembl chrNW_004955404:44,328,795...44,457,784
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Thsd1 |
thrombospondin type 1 domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:5,472,209...5,495,937
Ensembl chrNW_004955431:5,472,287...5,495,995
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Trim13 |
tripartite motif containing 13 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:3,324,331...3,395,724
Ensembl chrNW_004955431:3,324,331...3,395,724
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G |
Uchl3 |
ubiquitin C-terminal hydrolase L3 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955404:31,414,076...31,465,205
Ensembl chrNW_004955404:31,414,208...31,464,968
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G |
Vps36 |
vacuolar protein sorting 36 homolog |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:5,443,050...5,466,577
Ensembl chrNW_004955431:5,443,050...5,463,366
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G |
Wdfy2 |
WD repeat and FYVE domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chrNW_004955431:4,809,405...5,086,647
Ensembl chrNW_004955431:4,912,954...5,060,304
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
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ISO |
ClinVar Annotator: match by term: CIC-DUX Sarcoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955467:10,333,537...10,347,488
Ensembl chrNW_004955467:10,333,575...10,346,989
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G |
Usf3 |
upstream transcription factor family member 3 |
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ISO |
ClinVar Annotator: match by term: CIC-rearranged sarcoma |
ClinVar |
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NCBI chrNW_004955427:13,766,188...13,811,253
Ensembl chrNW_004955427:13,768,047...13,811,391
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G |
Bcor |
BCL6 corepressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26098867 |
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NCBI chrNW_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329
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G |
Gna11 |
G protein subunit alpha 11 |
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ISO |
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi |
ClinVar |
PMID:25741868 PMID:27476652 |
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NCBI chrNW_004955495:5,286,891...5,302,631
Ensembl chrNW_004955495:5,285,380...5,302,631
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
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ISO |
ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi |
OMIM ClinVar |
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 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:22120714 PMID:22162582 PMID:22162589 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28941273 PMID:29296277 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:34568242 PMID:34606700 PMID:36474027 PMID:37667289 PMID:37712948 More...
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NCBI chrNW_004955420:8,355,415...8,427,024
Ensembl chrNW_004955420:8,356,353...8,427,024
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
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ISO |
ClinVar Annotator: match by term: CLOVES syndrome |
ClinVar |
PMID:25741868 PMID:34040190 |
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NCBI chrNW_004955446:1,020,707...1,098,327
Ensembl chrNW_004955446:1,020,043...1,098,820
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
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ISO |
ClinVar Annotator: match by term: Congenital fibrosarcoma |
ClinVar |
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NCBI chrNW_004955485:7,805,244...7,925,414
Ensembl chrNW_004955485:7,808,131...7,925,677
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G |
Tp53 |
tumor protein p53 |
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ISO |
ClinVar Annotator: match by term: Infantile fibrosarcoma |
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:19378321 PMID:20013323 PMID:20128691 PMID:20182602 PMID:20407015 PMID:20522432 PMID:21059199 PMID:21343334 PMID:21519010 PMID:21601526 PMID:22186996 PMID:22265402 PMID:22713868 PMID:22915647 PMID:22955915 PMID:23172776 PMID:23246812 PMID:23667202 PMID:23950206 PMID:24033266 PMID:24038938 PMID:24573247 PMID:24603336 PMID:24651015 PMID:25157968 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:28369373 PMID:28472496 PMID:28492532 PMID:28724667 PMID:29025599 PMID:29979965 PMID:30224644 PMID:30327374 PMID:31127191 PMID:31775759 PMID:32187361 PMID:36988593 More...
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NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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Pcsk7 |
proprotein convertase subtilisin/kexin type 7 |
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ISO |
ClinVar Annotator: match by term: Corpus callosum lipoma |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955412:18,530,378...18,553,725
Ensembl chrNW_004955412:18,530,504...18,554,220
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Kit |
KIT proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Cutaneous mastocytosis |
ClinVar |
PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 PMID:9827716 PMID:9990072 PMID:11276010 PMID:11380399 PMID:11493470 PMID:11505412 PMID:12960119 PMID:15173254 PMID:15790786 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16908931 PMID:16912224 PMID:17259998 PMID:17372901 PMID:18024392 PMID:18980976 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19812602 PMID:19865100 PMID:20736294 PMID:21159146 PMID:21689725 PMID:22357254 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:24755198 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 More...
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NCBI chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734
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Kitlg |
KIT ligand |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20559008 |
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NCBI chrNW_004955405:25,816,137...25,969,006
Ensembl chrNW_004955405:25,886,447...25,969,395
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Col1a1 |
collagen type I alpha 1 chain |
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ISO |
associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion DNA:gene fusion:exon |
RGD |
PMID:12641779 PMID:22153773 |
RGD:2292195 RGD:5688300 |
NCBI chrNW_004955451:11,468,156...11,484,410
Ensembl chrNW_004955451:11,468,290...11,483,073
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Pdgfb |
platelet derived growth factor subunit B |
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ISO |
ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955413:25,150,702...25,166,987
Ensembl chrNW_004955413:25,148,062...25,166,987
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Foxo3 |
forkhead box O3 |
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ISO |
OMIM:166950 |
MouseDO |
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NCBI chrNW_004955411:33,655,958...33,770,829
Ensembl chrNW_004955411:33,655,958...33,770,829
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Apc |
APC regulator of WNT signaling pathway |
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ISO |
ClinVar Annotator: match by term: Desmoid tumor |
ClinVar |
PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 PMID:22135120 PMID:23757202 PMID:25741868 PMID:27081525 PMID:28492532 More...
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NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
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Ctnnb1 |
catenin beta 1 |
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ISO |
ClinVar Annotator: match by term: Desmoid tumor |
ClinVar |
PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26619011 PMID:26822237 More...
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NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
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Tnfrsf17 |
TNF receptor superfamily member 17 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic small round cell tumor |
ClinVar |
PMID:26822237 |
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NCBI chrNW_004955442:6,626,434...6,651,193
Ensembl chrNW_004955442:6,626,399...6,629,931
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Actr1a |
actin related protein 1A |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,926,744...7,944,648
Ensembl chrNW_004955485:7,926,744...7,944,648
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Arid2 |
AT-rich interaction domain 2 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:26580448 |
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NCBI chrNW_004955500:4,998,555...5,177,180
Ensembl chrNW_004955500:4,998,555...5,175,776
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Arl3 |
ARF like GTPase 3 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,739,556...7,772,582
Ensembl chrNW_004955485:7,733,211...7,775,687
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As3mt |
arsenite methyltransferase |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,576,627...7,599,005
Ensembl chrNW_004955485:7,575,580...7,599,559
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Atp5mk |
ATP synthase membrane subunit k |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,152,421...7,159,211
Ensembl chrNW_004955485:7,152,426...7,159,211
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Borcs7 |
BLOC-1 related complex subunit 7 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,605,277...7,615,924
Ensembl chrNW_004955485:7,605,277...7,615,924
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Calhm1 |
calcium homeostasis modulator 1 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,102,059...7,105,396
Ensembl chrNW_004955485:7,102,059...7,105,396
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Calhm2 |
calcium homeostasis modulator family member 2 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,106,926...7,111,745
Ensembl chrNW_004955485:7,106,926...7,113,249
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Calhm3 |
calcium homeostasis modulator 3 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,089,268...7,092,968
Ensembl chrNW_004955485:7,089,498...7,092,767
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Cfap43 |
cilia and flagella associated protein 43 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:6,418,063...6,515,730
Ensembl chrNW_004955485:6,451,004...6,515,532
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Cfap58 |
cilia and flagella associated protein 58 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:6,208,412...6,319,367
Ensembl chrNW_004955485:6,213,542...6,319,376
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Cnnm2 |
cyclin and CBS domain divalent metal cation transport mediator 2 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,399,085...7,546,176
Ensembl chrNW_004955485:7,403,549...7,545,987
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Col17a1 |
collagen type XVII alpha 1 chain |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:6,568,178...6,616,972
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Ctcf |
CCCTC-binding factor |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
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NCBI chrNW_004955484:9,041,226...9,092,924
Ensembl chrNW_004955484:9,042,524...9,064,927
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Ina |
internexin neuronal intermediate filament protein alpha |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,238,723...7,266,995
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Itprip |
inositol 1,4,5-trisphosphate receptor interacting protein |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:6,335,670...6,360,757
Ensembl chrNW_004955485:6,336,790...6,359,049
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LOC102011010 |
steroid 17-alpha-hydroxylase/17,20 lyase |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,615,132...7,652,899
Ensembl chrNW_004955485:7,645,363...7,650,658
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Mfsd13a |
major facilitator superfamily domain containing 13A |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,945,547...7,957,522
Ensembl chrNW_004955485:7,945,430...7,957,522
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Neurl1 |
neuralized E3 ubiquitin protein ligase 1 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,015,969...7,046,089
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Nt5c2 |
5'-nucleotidase, cytosolic II |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,318,006...7,394,448
Ensembl chrNW_004955485:7,317,588...7,394,448
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Pcgf6 |
polycomb group ring finger 6 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,196,626...7,228,918
Ensembl chrNW_004955485:7,196,626...7,227,536
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Pdcd11 |
programmed cell death 11 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,110,704...7,152,301
Ensembl chrNW_004955485:7,112,457...7,150,731
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Sfr1 |
SWI5 dependent homologous recombination repair protein 1 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:6,520,747...6,525,359
Ensembl chrNW_004955485:6,521,292...6,524,524
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Sfxn2 |
sideroflexin 2 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,716,916...7,732,122
Ensembl chrNW_004955485:7,718,039...7,732,121
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Sh3pxd2a |
SH3 and PX domains 2A |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:6,811,857...7,008,011
Ensembl chrNW_004955485:6,811,844...7,009,432
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Slk |
STE20 like kinase |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:6,617,698...6,685,220
Ensembl chrNW_004955485:6,617,698...6,685,220
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Sorcs3 |
sortilin related VPS10 domain containing receptor 3 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:5,474,081...6,048,912
Ensembl chrNW_004955485:5,475,942...5,884,106
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Stn1 |
STN1 subunit of CST complex |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:6,748,682...6,784,119
Ensembl chrNW_004955485:6,748,234...6,784,762
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Sufu |
SUFU negative regulator of hedgehog signaling |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,805,244...7,925,414
Ensembl chrNW_004955485:7,808,131...7,925,677
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Taf5 |
TATA-box binding protein associated factor 5 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,159,199...7,176,269
Ensembl chrNW_004955485:7,160,022...7,175,608
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Trim8 |
tripartite motif containing 8 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,784,625...7,798,131
Ensembl chrNW_004955485:7,782,794...7,797,022
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Wbp1l |
WW domain binding protein 1 like |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chrNW_004955485:7,655,921...7,710,387
Ensembl chrNW_004955485:7,655,221...7,710,402
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Mtap |
methylthioadenosine phosphorylase |
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ISO |
ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY |
OMIM ClinVar |
PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 PMID:16419137 PMID:22464254 PMID:25741868 PMID:28492532 More...
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NCBI chrNW_004955472:12,391,399...12,439,221
Ensembl chrNW_004955472:12,390,032...12,439,206
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Kit |
KIT proto-oncogene, receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: MASTOCYTOSIS, DIFFUSE CUTANEOUS |
ClinVar |
PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 PMID:11380399 PMID:11493470 PMID:15972446 PMID:16352739 PMID:16384925 PMID:16731599 PMID:16912224 PMID:17259998 PMID:18024392 PMID:18986703 PMID:19164557 PMID:19262599 PMID:19865100 PMID:21689725 PMID:22504184 PMID:23582185 PMID:23714533 PMID:24045550 PMID:25157968 PMID:25741868 PMID:26158763 PMID:26822237 PMID:27777718 PMID:28492532 More...
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NCBI chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734
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Brip1 |
BRCA1 interacting DNA helicase 1 |
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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...
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NCBI chrNW_004955451:2,705,834...2,820,610
Ensembl chrNW_004955451:2,707,793...2,818,592
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Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
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Alk |
ALK receptor tyrosine kinase |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955469:11,049,373...11,751,235
Ensembl chrNW_004955469:11,047,048...11,548,233
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Brca2 |
BRCA2 DNA repair associated |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:26467025 PMID:28492532 |
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NCBI chrNW_004955431:13,449,287...13,526,878
Ensembl chrNW_004955431:13,449,543...13,527,432
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Cdk4 |
cyclin dependent kinase 4 |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955458:5,457,927...5,460,718
Ensembl chrNW_004955458:5,453,732...5,460,718
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Fanca |
FA complementation group A |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955541:3,272,936...3,320,229
Ensembl chrNW_004955541:3,273,022...3,320,052
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Fgfr3 |
fibroblast growth factor receptor 3 |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
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Idh1 |
isocitrate dehydrogenase (NADP(+)) 1 |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955457:6,851,542...6,869,452
Ensembl chrNW_004955457:6,851,517...6,872,367
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Kdm5b |
lysine demethylase 5B |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955406:38,755,220...38,823,094
Ensembl chrNW_004955406:38,755,220...38,823,088
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Nf1 |
neurofibromin 1 |
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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:31882575 |
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NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
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Palb2 |
partner and localizer of BRCA2 |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955493:2,149,053...2,175,482
Ensembl chrNW_004955493:2,147,862...2,175,781
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Pms2 |
PMS1 homolog 2, mismatch repair system component |
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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 |
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NCBI chrNW_004955460:13,762,854...13,791,462
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Ret |
ret proto-oncogene |
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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...
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NCBI chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946
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Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955504:36,939...66,507
Ensembl chrNW_004955504:36,911...70,494
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Tp53 |
tumor protein p53 |
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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...
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NCBI chrNW_004955467:9,241,391...9,256,716
Ensembl chrNW_004955467:9,252,130...9,255,928
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Tspan31 |
tetraspanin 31 |
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ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955458:5,455,012...5,457,912
Ensembl chrNW_004955458:5,455,012...5,457,904
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Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
DNA:mutation:cds:p.V600E(human) |
RGD |
PMID:25346165 |
RGD:11567238 |
NCBI chrNW_004955494:2,567,238...2,712,708
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Arid1a |
AT-rich interaction domain 1A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29376028 |
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NCBI chrNW_004955452:6,068,631...6,120,759
Ensembl chrNW_004955452:6,068,631...6,120,759
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Bcor |
BCL6 corepressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29376028 |
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NCBI chrNW_004955566:1,412,540...1,510,339
Ensembl chrNW_004955566:1,412,540...1,457,329
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Bub1b |
BUB1 mitotic checkpoint serine/threonine kinase B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15475955 |
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NCBI chrNW_004955416:7,105,302...7,159,121
Ensembl chrNW_004955416:7,105,261...7,160,012
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Dmd |
dystrophin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24793134 |
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NCBI chrNW_004955535:1,283,084...3,297,015
Ensembl chrNW_004955535:1,283,523...3,299,542
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Myod1 |
myogenic differentiation 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24793135 |
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NCBI chrNW_004955414:32,523,959...32,526,575
Ensembl chrNW_004955414:32,523,924...32,526,674
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Ptpn11 |
protein tyrosine phosphatase non-receptor type 11 |
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ISO |
ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma |
ClinVar |
PMID:26619011 PMID:26822237 |
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NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203
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Setd2 |
SET domain containing 2, histone lysine methyltransferase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29376028 |
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NCBI chrNW_004955420:25,070,626...25,178,410
Ensembl chrNW_004955420:25,090,798...25,177,760
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Stk11 |
serine/threonine kinase 11 |
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ISO |
ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma |
ClinVar |
PMID:25741868 PMID:28492532 PMID:33528079 PMID:35430768 |
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NCBI chrNW_004955495:6,678,195...6,699,408
Ensembl chrNW_004955495:6,678,195...6,699,058
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Yap1 |
Yes1 associated transcriptional regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:31494105 |
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NCBI chrNW_004955412:5,423,866...5,533,728
Ensembl chrNW_004955412:5,423,855...5,534,408
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Slc22a18 |
solute carrier family 22 member 18 |
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ISO |
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OMIM |
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NCBI chrNW_004955422:14,590,588...14,615,898
Ensembl chrNW_004955422:14,592,250...14,616,890
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Dicer1 |
dicer 1, ribonuclease III |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2 |
OMIM ClinVar |
PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:23728841 PMID:24728327 PMID:24839956 PMID:24909177 PMID:25022261 PMID:25118636 PMID:25741868 PMID:26467025 PMID:26475046 PMID:26545620 PMID:26555935 PMID:26577641 PMID:26925222 PMID:27459524 PMID:28492532 PMID:28524158 PMID:28873162 PMID:29399970 PMID:29883781 PMID:30097050 PMID:30178239 PMID:30446821 PMID:31838154 PMID:32714280 PMID:34291157 PMID:34313605 More...
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NCBI chrNW_004955438:17,374,899...17,431,599
Ensembl chrNW_004955438:17,382,493...17,431,797
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Ctnnb1 |
catenin beta 1 |
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ISO |
mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors |
RGD |
PMID:16822086 |
RGD:2298800 |
NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449
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Fgf8 |
fibroblast growth factor 8 |
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ISO |
protein:increased expression:testicular germ cell neoplasms |
RGD |
PMID:11764380 |
RGD:2289339 |
NCBI chrNW_004955485:8,517,412...8,521,732
Ensembl chrNW_004955485:8,517,412...8,521,770
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Sall4 |
spalt like transcription factor 4 |
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ISO |
protein:increased expression:testis, nucleus (human) |
RGD |
PMID:23347651 |
RGD:11557983 |
NCBI chrNW_004955445:6,824,797...6,841,141
Ensembl chrNW_004955445:6,824,770...6,842,187
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Tnfsf8 |
TNF superfamily member 8 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:9111512 |
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NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
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Wnt2b |
Wnt family member 2B |
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ISO |
mRNA:increased expression:tumor |
RGD |
PMID:16822086 |
RGD:2298800 |
NCBI chrNW_004955435:15,948,262...15,962,958
Ensembl chrNW_004955435:15,948,262...15,962,958
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Kit |
KIT proto-oncogene, receptor tyrosine kinase |
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ISO |
protein:increased expression:tumor:increased in 6/8 (75%) of tumors |
RGD |
PMID:17367465 |
RGD:2292170 |
NCBI chrNW_004955447:16,149,014...16,226,151
Ensembl chrNW_004955447:16,148,605...16,226,734
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Bcl7c |
BAF chromatin remodeling complex subunit BCL7C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chrNW_004955493:7,728,229...7,733,086
Ensembl chrNW_004955493:7,693,084...7,733,086
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Ephb2 |
EPH receptor B2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chrNW_004955452:2,844,713...2,986,790
Ensembl chrNW_004955452:2,844,713...2,980,445
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Gdnf |
glial cell derived neurotrophic factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138852 |
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NCBI chrNW_004955426:22,386,613...22,412,324
Ensembl chrNW_004955426:22,386,450...22,412,324
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Igf2 |
insulin like growth factor 2 |
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ISO |
mRNA:increased expression:cerebellum |
RGD |
PMID:18478565 |
RGD:5509961 |
NCBI chrNW_004955422:13,880,525...13,907,963
Ensembl chrNW_004955422:13,880,471...13,888,566
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Rab3a |
RAB3A, member RAS oncogene family |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chrNW_004955524:3,220,108...3,224,376
Ensembl chrNW_004955524:3,221,366...3,224,376
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Rtbdn |
retbindin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chrNW_004955415:31,895,446...31,899,927
Ensembl chrNW_004955415:31,895,507...31,899,303
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Shc3 |
SHC adaptor protein 3 |
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ISO |
DNA:amplification:brain: |
RGD |
PMID:19748727 |
RGD:13782069 |
NCBI chrNW_004955515:2,858,971...3,016,467
Ensembl chrNW_004955515:2,860,230...3,016,467
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Znf668 |
zinc finger protein 668 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chrNW_004955493:7,902,527...7,911,616
Ensembl chrNW_004955493:7,902,527...7,905,135
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Col4a5 |
collagen type IV alpha 5 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17069596 |
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NCBI chrNW_004955490:7,168,725...7,409,655
Ensembl chrNW_004955490:7,168,676...7,409,887
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Col4a6 |
collagen type IV alpha 6 chain |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17069596 |
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NCBI chrNW_004955490:7,409,687...7,764,300
Ensembl chrNW_004955490:7,409,160...7,762,929
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Smarcb1 |
SWI/SNF related BAF chromatin remodeling complex subunit B1 |
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ISO |
protein:decreased expression:epithelial cell: |
RGD |
PMID:19033866 |
RGD:155804293 |
NCBI chrNW_004955455:8,420,263...8,457,105
Ensembl chrNW_004955455:8,415,839...8,457,097
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Bap1 |
BRCA1 associated deubiquitinase 1 |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma |
ClinVar |
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955430:2,391,970...2,400,645
Ensembl chrNW_004955430:2,390,524...2,400,645
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Cd99 |
CD99 molecule (Xg blood group) |
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ISO |
ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present |
ClinVar |
PMID:25741868 |
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NCBI chrNW_004955499:1,607,382...1,646,172
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Cdk4 |
cyclin dependent kinase 4 |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma |
ClinVar |
PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:26580448 PMID:28166811 PMID:28492532 PMID:30093976 PMID:30851086 More...
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NCBI chrNW_004955458:5,457,927...5,460,718
Ensembl chrNW_004955458:5,453,732...5,460,718
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Ciz1 |
CDKN1A interacting zinc finger protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17508423 |
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NCBI chrNW_004955570:716,124...732,551
Ensembl chrNW_004955570:707,637...732,980
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Egr2 |
early growth response 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26214589 |
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NCBI chrNW_004955425:16,055,748...16,068,429
Ensembl chrNW_004955425:16,055,748...16,060,048
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Ewsr1 |
EWS RNA binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955455:3,571,025...3,599,975
Ensembl chrNW_004955455:3,571,025...3,601,975
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Fli1 |
Fli-1 proto-oncogene, ETS transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11772151 PMID:16646077 PMID:26214589 |
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NCBI chrNW_004955412:29,653,621...29,773,412
Ensembl chrNW_004955412:29,654,459...29,775,903
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Kdm3a |
lysine demethylase 3A |
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ISO |
mRNA:increased expression:bone marrow (human) |
RGD |
PMID:24362521 |
RGD:9590218 |
NCBI chrNW_004955424:1,164,384...1,218,607
Ensembl chrNW_004955424:1,171,827...1,218,607
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Nf1 |
neurofibromin 1 |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma | ClinVar Annotator: match by term: Ewing tumor |
ClinVar |
PMID:7607663 PMID:9385374 PMID:9463322 PMID:10494088 PMID:10607834 PMID:10712197 PMID:11137998 PMID:12112660 PMID:12807981 PMID:15060124 PMID:16479075 PMID:16870183 PMID:17311297 PMID:20301288 PMID:22925204 PMID:23668869 PMID:23913538 PMID:25741868 PMID:25810463 PMID:26467025 PMID:26962827 PMID:27322474 PMID:27838393 PMID:28492532 PMID:30290804 PMID:30530636 PMID:31347283 PMID:31730495 PMID:36988593 More...
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NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
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Tspan31 |
tetraspanin 31 |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma |
ClinVar |
PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 PMID:26580448 PMID:28166811 PMID:28492532 PMID:30093976 PMID:30851086 More...
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NCBI chrNW_004955458:5,455,012...5,457,912
Ensembl chrNW_004955458:5,455,012...5,457,904
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Agps |
alkylglycerone phosphate synthase |
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ISO |
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RGD |
PMID:7407223 |
RGD:1598794 |
NCBI chrNW_004955403:19,253,784...19,381,883
Ensembl chrNW_004955403:19,257,501...19,381,901
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Alb |
albumin |
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ISO |
mRNA,protein:decreased expression:liver,serum: |
RGD |
PMID:1900492 |
RGD:11035284 |
NCBI chrNW_004955447:9,327...21,212
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Epo |
erythropoietin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9743294 |
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NCBI chrNW_004955573:203,875...206,078
Ensembl chrNW_004955573:203,441...206,355
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Ifng |
interferon gamma |
treatment |
ISO |
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RGD |
PMID:2119881 |
RGD:10755752 |
NCBI chrNW_004955458:14,643,333...14,648,020
Ensembl chrNW_004955458:14,643,313...14,648,045
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
A to T transversion; Gln to His substitution |
RGD |
PMID:11295286 |
RGD:1598680 |
NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
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Nras |
NRAS proto-oncogene, GTPase |
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ISO |
DNA:transversion:exon p.Q61L (human) |
RGD |
PMID:11295286 |
RGD:1598680 |
NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103
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Slc6a14 |
solute carrier family 6 member 14 |
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ISO |
mRNA, protein:increased expression:brush border epithelial cell |
RGD |
PMID:17006743 |
RGD:1625275 |
NCBI chrNW_004955534:3,463,057...3,488,577
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Ret |
ret proto-oncogene |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma of soft tissue |
ClinVar |
PMID:24336963 PMID:24429398 PMID:24755471 PMID:25256751 PMID:25741868 PMID:26467025 PMID:26580448 PMID:28492532 PMID:29263839 PMID:29642553 PMID:30583724 PMID:30680046 PMID:31428572 PMID:31658439 PMID:32099073 PMID:32179705 More...
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NCBI chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946
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Nr4a3 |
nuclear receptor subfamily 4 group A member 3 |
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ISO |
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OMIM |
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NCBI chrNW_004955419:25,779,368...25,817,445
Ensembl chrNW_004955419:25,779,178...25,818,706
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Taf15 |
TATA-box binding protein associated factor 15 |
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ISO |
ClinVar Annotator: match by term: TAF15-related condition |
OMIM ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955481:10,242,839...10,274,961
Ensembl chrNW_004955481:10,252,393...10,274,860
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Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
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ISO |
ClinVar Annotator: match by term: Familial atrial myxoma |
OMIM ClinVar |
PMID:1263542 PMID:10973256 PMID:25741868 PMID:28492532 |
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NCBI chrNW_004955478:4,241,283...4,262,119
Ensembl chrNW_004955478:4,241,283...4,263,087
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Cdc73 |
cell division cycle 73 |
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ISO |
ClinVar Annotator: match by term: Cystic parathyroid adenoma |
ClinVar |
PMID:12434154 |
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NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
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Glmn |
glomulin, FKBP associated protein |
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ISO |
ClinVar Annotator: match by term: Familial glomangioma |
ClinVar |
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30460983 More...
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NCBI chrNW_004955423:2,195,428...2,233,389
Ensembl chrNW_004955423:2,195,423...2,232,706
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Rb1 |
RB transcriptional corepressor 1 |
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ISO |
ClinVar Annotator: match by term: Hereditary retinoblastoma |
ClinVar |
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:17096365 PMID:17576681 PMID:18449911 PMID:18677112 PMID:22084214 PMID:25741868 PMID:25754945 PMID:28492532 More...
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NCBI chrNW_004955431:1,960,765...2,124,576
Ensembl chrNW_004955431:1,960,661...2,124,576
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
mRNA:decreased expression:brain |
RGD |
PMID:19179066 |
RGD:13702872 |
NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758
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Fosl1 |
FOS like 1, AP-1 transcription factor subunit |
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ISO |
mRNA, protein:increased expression:breast |
RGD |
PMID:17254320 |
RGD:2293756 |
NCBI chrNW_004955422:19,425,741...19,431,801
Ensembl chrNW_004955422:19,423,591...19,433,885
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G |
Med12 |
mediator complex subunit 12 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25038752 PMID:26437033 |
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NCBI chrNW_004955475:10,687,168...10,710,286
Ensembl chrNW_004955475:10,687,367...10,710,053
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G |
Rara |
retinoic acid receptor alpha |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437033 |
|
NCBI chrNW_004955451:14,876,663...14,917,134
Ensembl chrNW_004955451:14,897,726...14,917,134
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G |
Wnt2 |
Wnt family member 2 |
|
ISO |
mRNA:increased expression:breast |
RGD |
PMID:8168088 |
RGD:2291878 |
NCBI chrNW_004955432:22,988,208...23,024,530
Ensembl chrNW_004955432:22,984,170...23,027,705
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G |
Wnt4 |
Wnt family member 4 |
|
ISO |
breast fibroadenoma; mRNA:increased expression:tumor:increased vs normal and malignant breast tissue (p=0.001) |
RGD |
PMID:8168088 |
RGD:2291878 |
NCBI chrNW_004955452:2,319,446...2,344,740
Ensembl chrNW_004955452:2,319,446...2,344,989
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G |
Antxr2 |
ANTXR cell adhesion molecule 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12973667 PMID:14508707 |
RGD:1599125 |
NCBI chrNW_004955433:4,212,729...4,345,611
Ensembl chrNW_004955433:4,212,729...4,345,066
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G |
Brf1 |
BRF1 general transcription factor IIIB subunit |
|
ISO |
|
RGD |
PMID:18456653 |
RGD:9586716 |
NCBI chrNW_004955538:3,469,322...3,544,704
Ensembl chrNW_004955538:3,470,249...3,544,704
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G |
Grm1 |
glutamate metabotropic receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24658000 |
|
NCBI chrNW_004955436:14,264,470...14,377,581
Ensembl chrNW_004955436:14,264,387...14,644,622
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G |
Cdc42 |
cell division cycle 42 |
|
ISO |
|
RGD |
PMID:17971488 |
RGD:5688275 |
NCBI chrNW_004955452:2,255,940...2,299,042
Ensembl chrNW_004955452:2,255,117...2,299,042
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G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
ameliorates |
ISO |
DNA:deletion:exons: |
RGD |
PMID:24293323 |
RGD:150429711 |
NCBI chrNW_004955462:13,578,638...13,644,834
Ensembl chrNW_004955462:13,584,724...13,642,968
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G |
Egr1 |
early growth response 1 |
|
ISO |
human tumor line expressing mouse gene in mouse model |
RGD |
PMID:7585551 |
RGD:5131944 |
NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
susceptibility |
ISO |
|
RGD |
PMID:11238917 |
RGD:11567233 |
NCBI chrNW_004955556:745,175...812,215
Ensembl chrNW_004955556:748,231...813,133
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G |
Nf1 |
neurofibromin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20601955 |
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NCBI chrNW_004955481:6,145,855...6,404,179
Ensembl chrNW_004955481:6,145,855...6,404,179
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G |
Serpine1 |
serpin family E member 1 |
severity |
ISO |
|
RGD |
PMID:11059781 |
RGD:8547752 |
NCBI chrNW_004955456:16,147,523...16,157,040
Ensembl chrNW_004955456:16,145,944...16,157,142
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G |
Tert |
telomerase reverse transcriptase |
treatment |
ISO |
|
RGD |
PMID:19903903 |
RGD:11038656 |
NCBI chrNW_004955504:649,248...669,796
Ensembl chrNW_004955504:651,779...670,589
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
human gene in mouse model |
RGD |
PMID:10753499 |
RGD:5131435 |
NCBI chrNW_004955413:3,982,670...3,996,320
Ensembl chrNW_004955413:3,981,400...3,996,021
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G |
Mfhas1 |
multifunctional ROCO family signaling regulator 1 |
|
ISO |
|
RGD |
PMID:9973190 |
RGD:1599928 |
NCBI chrNW_004955463:4,900,115...4,993,793
Ensembl chrNW_004955463:4,900,060...4,993,793
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G |
Mmp21 |
matrix metallopeptidase 21 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16984259 |
|
NCBI chrNW_004955477:3,650,874...3,658,059
Ensembl chrNW_004955477:3,650,874...3,658,059
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G |
Stat3 |
signal transducer and activator of transcription 3 |
|
ISO |
ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma |
ClinVar |
PMID:24797340 PMID:25586472 PMID:25741868 PMID:28356514 PMID:28492532 PMID:33060403 PMID:34075200 More...
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NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
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G |
Aasdh |
aminoadipate-semialdehyde dehydrogenase |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:1279971 PMID:1720553 PMID:7529964 PMID:15194144 PMID:28492532 |
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NCBI chrNW_004955447:14,623,532...14,648,121
Ensembl chrNW_004955447:14,622,728...14,648,005
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G |
Abcb10 |
ATP binding cassette subfamily B member 10 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955492:8,532,240...8,573,211
Ensembl chrNW_004955492:8,532,240...8,577,041
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G |
Abl2 |
ABL proto-oncogene 2, non-receptor tyrosine kinase |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:18,435,984...18,527,967
Ensembl chrNW_004955406:18,437,672...18,527,698
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G |
Acbd3 |
acyl-CoA binding domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955489:337,578...381,557
Ensembl chrNW_004955489:339,561...381,496
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G |
Acbd6 |
acyl-CoA binding domain containing 6 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:19,481,640...19,658,807
Ensembl chrNW_004955406:19,481,640...19,658,806
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G |
Ackr1 |
atypical chemokine receptor 1 (Duffy blood group) |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955468:10,994,372...10,997,434
Ensembl chrNW_004955468:10,995,941...11,001,094
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G |
Acp6 |
acid phosphatase 6, lysophosphatidic |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955568:744,453...764,402
Ensembl chrNW_004955568:744,836...764,331
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G |
Acta1 |
actin alpha 1, skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955492:8,644,696...8,647,412
Ensembl chrNW_004955492:8,644,146...8,647,523
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G |
Actn2 |
actinin alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955492:3,483,704...3,554,831
Ensembl chrNW_004955492:3,483,511...3,555,190
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G |
Adam15 |
ADAM metallopeptidase domain 15 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955545:1,545,532...1,555,826
Ensembl chrNW_004955545:1,545,635...1,555,614
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G |
Adamts4 |
ADAM metallopeptidase with thrombospondin type 1 motif 4 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955468:12,950,333...12,958,599
Ensembl chrNW_004955468:12,951,155...12,958,212
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G |
Adamtsl4 |
ADAMTS like 4 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:258,078...269,324
Ensembl chrNW_004955413:257,915...269,325
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G |
Adar |
adenosine deaminase RNA specific |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955545:1,078,319...1,106,938
Ensembl chrNW_004955545:1,078,319...1,106,938
|
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G |
Adcy10 |
adenylate cyclase 10 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955462:9,196,984...9,278,850
Ensembl chrNW_004955462:9,207,314...9,278,621
|
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G |
Adipor1 |
adiponectin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:38,939,167...38,955,647
Ensembl chrNW_004955406:38,936,588...38,955,352
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G |
Adora1 |
adenosine A1 receptor |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:39,148,811...39,183,577
Ensembl chrNW_004955406:39,149,689...39,187,688
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G |
Adss2 |
adenylosuccinate synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:7,684,979...7,715,179
Ensembl chrNW_004955406:7,683,596...7,715,616
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G |
Agt |
angiotensinogen |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
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G |
Ahctf1 |
AT-hook containing transcription factor 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:9,687,237...9,754,426
Ensembl chrNW_004955406:9,688,749...9,744,998
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G |
Aida |
axin interactor, dorsalization associated |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955520:1,819,617...1,851,273
Ensembl chrNW_004955520:1,819,706...1,851,273
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G |
Akt3 |
AKT serine/threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:6,907,876...7,163,672
|
|
G |
Aldh9a1 |
aldehyde dehydrogenase 9 family member A1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955462:10,998,147...11,017,360
|
|
G |
Angel2 |
angel homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:4,589,849...4,606,380
Ensembl chrNW_004955406:4,589,849...4,606,380
|
|
G |
Angptl1 |
angiopoietin like 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:18,160,164...18,224,822
Ensembl chrNW_004955406:18,203,310...18,224,789
|
|
G |
Ankrd34a |
ankyrin repeat domain 34A |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955568:130,062...134,841
Ensembl chrNW_004955568:131,259...134,841
|
|
G |
Ankrd35 |
ankyrin repeat domain 35 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955568:204,422...222,065
Ensembl chrNW_004955568:204,482...222,258
|
|
G |
Ankrd45 |
ankyrin repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:13,842,571...13,882,625
Ensembl chrNW_004955406:13,846,452...13,872,411
|
|
G |
Anp32e |
acidic nuclear phosphoprotein 32 family member E |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:531,716...550,480
Ensembl chrNW_004955413:531,970...548,294
|
|
G |
Anxa9 |
annexin A9 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955588:352,175...374,723
Ensembl chrNW_004955588:352,176...370,418
|
|
G |
Apc |
APC regulator of WNT signaling pathway |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine |
ClinVar |
PMID:25741868 PMID:26530882 PMID:28492532 |
|
NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832
|
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G |
Apcs |
amyloid P component, serum |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955468:11,388,154...11,389,259
Ensembl chrNW_004955468:11,388,192...11,390,314
|
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G |
Aph1a |
aph-1 homolog A, gamma-secretase subunit |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955413:506,297...509,787
Ensembl chrNW_004955413:506,297...509,787
|
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G |
Apoa2 |
apolipoprotein A2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955468:12,977,956...12,979,282
Ensembl chrNW_004955468:12,977,956...12,979,753
|
|
G |
Apobec4 |
apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:22,425,097...22,431,148
|
|
G |
Aqp10 |
aquaporin 10 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955545:845,749...848,738
Ensembl chrNW_004955545:845,749...848,738
|
|
G |
Arf1 |
ARF GTPase 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955581:319,942...335,112
Ensembl chrNW_004955581:319,942...335,112
|
|
G |
Arhgap30 |
Rho GTPase activating protein 30 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955468:12,822,489...12,840,705
Ensembl chrNW_004955468:12,823,254...12,840,405
|
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G |
Arhgef11 |
Rho guanine nucleotide exchange factor 11 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955545:2,988,676...3,099,159
Ensembl chrNW_004955545:2,989,774...3,097,003
|
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G |
Arhgef2 |
Rho/Rac guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955545:2,149,107...2,192,986
Ensembl chrNW_004955545:2,149,107...2,197,153
|
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G |
Arid4b |
AT-rich interaction domain 4B |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955492:4,593,335...4,730,073
Ensembl chrNW_004955492:4,593,335...4,730,073
|
|
G |
Arl8a |
ARF like GTPase 8A |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:38,223,115...38,226,563
Ensembl chrNW_004955406:38,224,124...38,226,542
|
|
G |
Arl9 |
ARF like GTPase 9 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:1279971 PMID:1720553 PMID:7529964 PMID:15194144 PMID:28492532 |
|
NCBI chrNW_004955447:14,500,696...14,515,286
|
|
G |
Arnt |
aryl hydrocarbon receptor nuclear translocator |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955588:159,462...233,047
Ensembl chrNW_004955588:159,462...233,047
|
|
G |
Arpc5 |
actin related protein 2/3 complex subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:22,409,239...22,418,950
Ensembl chrNW_004955406:22,409,239...22,418,945
|
|
G |
Arv1 |
ARV1 homolog, fatty acid homeostasis modulator |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955492:7,669,956...7,683,293
Ensembl chrNW_004955492:7,672,746...7,683,728
|
|
G |
Ascl5 |
achaete-scute family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:37,264,753...37,265,337
|
|
G |
Ash1l |
ASH1 like histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955545:1,778,905...1,950,656
Ensembl chrNW_004955545:1,778,905...1,923,104
|
|
G |
Aspm |
assembly factor for spindle microtubules |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:33,665,675...33,720,468
Ensembl chrNW_004955406:33,661,322...33,720,259
|
|
G |
Astn1 |
astrotactin 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:16,445,738...16,742,185
Ensembl chrNW_004955406:16,445,495...16,742,295
|
|
G |
Atf3 |
activating transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:4,875,672...4,889,173
Ensembl chrNW_004955406:4,875,613...4,889,242
|
|
G |
Atf6 |
activating transcription factor 6 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955462:14,352,956...14,553,299
Ensembl chrNW_004955462:14,357,945...14,548,543
|
|
G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955468:11,898,786...11,924,341
Ensembl chrNW_004955468:11,898,915...11,922,400
|
|
G |
Atp1b1 |
ATPase Na+/K+ transporting subunit beta 1 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955462:8,072,519...8,095,311
Ensembl chrNW_004955462:8,073,679...8,094,880
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Atp2b4 |
ATPase plasma membrane Ca2+ transporting 4 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,552,034...39,645,694
Ensembl chrNW_004955406:39,552,019...39,645,694
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G |
Atp6v1g3 |
ATPase H+ transporting V1 subunit G3 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:34,910,498...34,927,745
Ensembl chrNW_004955406:34,910,498...34,927,745
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G |
Atp8b2 |
ATPase phospholipid transporting 8B2 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955545:850,522...872,650
Ensembl chrNW_004955545:852,201...872,789
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G |
Avpr1b |
arginine vasopressin receptor 1B |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:41,706,088...41,716,173
Ensembl chrNW_004955406:41,705,305...41,716,173
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G |
Axdnd1 |
axonemal dynein light chain domain containing 1 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:18,717,383...18,859,263
Ensembl chrNW_004955406:18,717,820...18,858,905
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G |
B3galnt2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955492:4,472,585...4,502,704
Ensembl chrNW_004955492:4,472,587...4,501,531
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G |
B3galt2 |
beta-1,3-galactosyltransferase 2 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:30,603,238...30,610,822
Ensembl chrNW_004955406:30,603,238...30,610,822
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G |
B4galt3 |
beta-1,4-galactosyltransferase 3 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955468:12,934,521...12,945,435
Ensembl chrNW_004955468:12,932,059...12,940,723
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G |
B9d1 |
B9 domain containing 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793025 |
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NCBI chrNW_004955467:405,487...415,887
Ensembl chrNW_004955467:405,490...416,116
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G |
Bag6 |
BAG cochaperone 6 |
disease_progression |
ISO |
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RGD |
PMID:28197361 |
RGD:14390153 |
NCBI chrNW_004955437:176,848...188,243
Ensembl chrNW_004955437:176,797...188,003
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G |
Batf3 |
basic leucine zipper ATF-like transcription factor 3 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955815:2,852...11,035
Ensembl chrNW_004955815:2,846...11,035
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G |
Bcan |
brevican |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955545:2,723,780...2,739,334
Ensembl chrNW_004955545:2,723,780...2,739,450
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G |
Bcl9 |
BCL9 transcription coactivator |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955568:785,361...866,986
Ensembl chrNW_004955568:783,692...811,600
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G |
Bglap |
bone gamma-carboxyglutamate protein |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955545:2,381,091...2,382,114
Ensembl chrNW_004955545:2,381,156...2,381,978
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G |
Blzf1 |
basic leucine zipper nuclear factor 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955462:7,856,650...7,879,659
Ensembl chrNW_004955462:7,855,075...7,879,186
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G |
Bnipl |
BCL2 interacting protein like |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955588:409,509...417,825
Ensembl chrNW_004955588:409,511...417,825
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G |
Boc |
BOC cell adhesion associated, oncogene regulated |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793025 |
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NCBI chrNW_004955427:13,424,478...13,492,527
Ensembl chrNW_004955427:13,424,478...13,493,952
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G |
Bola1 |
bolA family member 1 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:850,781...851,887
Ensembl chrNW_004955413:850,781...851,887
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G |
Bpnt1 |
3'(2'), 5'-bisphosphate nucleotidase 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955520:3,521,096...3,543,255
Ensembl chrNW_004955520:3,524,684...3,544,666
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G |
Braf |
B-Raf proto-oncogene, serine/threonine kinase |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
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:31277584 PMID:31779674 PMID:31891627 PMID:34476331 More...
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NCBI chrNW_004955494:2,567,238...2,712,708
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G |
Brinp2 |
BMP/retinoic acid inducible neural specific 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:16,748,824...16,840,924
Ensembl chrNW_004955406:16,748,824...16,844,093
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G |
Brinp3 |
BMP/retinoic acid inducible neural specific 3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:27,870,115...28,240,328
Ensembl chrNW_004955406:27,869,456...28,238,978
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G |
Brox |
BRO1 domain and CAAX motif containing |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955520:1,797,657...1,819,359
Ensembl chrNW_004955520:1,797,657...1,818,708
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G |
Btg2 |
BTG anti-proliferation factor 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:39,303,221...39,307,308
Ensembl chrNW_004955406:39,303,175...39,308,778
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G |
Btnl10 |
Butyrophilin-like protein 10 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955581:62,183...69,040
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G |
C2cd3 |
C2 domain containing 3 centriole elongation regulator |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793025 |
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NCBI chrNW_004955414:17,444,299...17,557,912
Ensembl chrNW_004955414:17,444,515...17,558,245
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G |
C2cd4d |
C2 calcium dependent domain containing 4D |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955589:582,261...583,519
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G |
C4bpa |
complement component 4 binding protein alpha |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:42,613,659...42,641,918
Ensembl chrNW_004955406:42,613,607...42,641,670
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G |
C4bpb |
complement component 4 binding protein beta |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:42,601,164...42,608,912
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G |
Ca14 |
carbonic anhydrase 14 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955413:510,089...516,892
Ensembl chrNW_004955413:510,089...516,892
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G |
Cacna1e |
calcium voltage-gated channel subunit alpha1 E |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:20,356,564...20,824,679
Ensembl chrNW_004955406:20,510,954...20,816,678
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G |
Cacna1s |
calcium voltage-gated channel subunit alpha1 S |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:37,201,180...37,263,328
Ensembl chrNW_004955406:37,201,180...37,263,371
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G |
Cacybp |
calcyclin binding protein |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:14,823,509...14,840,127
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G |
Cadm3 |
cell adhesion molecule 3 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955468:10,963,773...10,994,266
Ensembl chrNW_004955468:10,963,724...10,994,266
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G |
Camk1g |
calcium/calmodulin dependent protein kinase IG |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955489:2,604,030...2,629,394
Ensembl chrNW_004955489:2,604,030...2,629,436
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G |
Camsap2 |
calmodulin regulated spectrin associated protein family member 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:36,958,337...37,055,748
Ensembl chrNW_004955406:36,957,523...37,055,748
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G |
Capn2 |
calpain 2 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955520:1,287,829...1,315,318
Ensembl chrNW_004955520:1,286,356...1,315,328
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G |
Capn8 |
calpain 8 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955520:1,340,038...1,379,765
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G |
Capn9 |
calpain 9 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955492:7,809,188...7,845,090
Ensembl chrNW_004955492:7,809,188...7,845,090
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G |
Casq1 |
calsequestrin 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955468:11,967,678...11,978,836
Ensembl chrNW_004955468:11,967,678...11,978,836
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G |
Catspere |
catsper channel auxiliary subunit epsilon |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:7,716,831...7,861,390
Ensembl chrNW_004955406:7,716,825...7,844,687
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G |
Cc2d2a |
coiled-coil and C2 domain containing 2A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793025 |
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NCBI chrNW_004955480:8,404,239...8,514,792
Ensembl chrNW_004955480:8,400,284...8,514,736
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G |
Ccdc181 |
coiled-coil domain containing 181 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955462:7,820,176...7,838,931
Ensembl chrNW_004955462:7,821,226...7,838,892
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G |
Ccdc190 |
coiled-coil domain containing 190 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955462:13,524,706...13,532,251
Ensembl chrNW_004955462:13,524,947...13,533,123
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G |
Ccsap |
centriole, cilia and spindle associated protein |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955492:8,685,667...8,700,306
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G |
Cct3 |
chaperonin containing TCP1 subunit 3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955545:2,444,988...2,460,976
Ensembl chrNW_004955545:2,444,988...2,461,113
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G |
Cd160 |
CD160 molecule |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955568:365,700...372,149
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G |
Cd244 |
CD244 molecule |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955468:12,532,937...12,559,859
Ensembl chrNW_004955468:12,534,064...12,559,434
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G |
Cd247 |
CD247 molecule |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955462:9,466,706...9,539,897
Ensembl chrNW_004955462:9,469,255...9,538,882
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G |
Cd34 |
CD34 molecule |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:43,116,688...43,130,405
Ensembl chrNW_004955406:43,117,816...43,130,463
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G |
Cd3e |
CD3e molecule |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793025 |
|
NCBI chrNW_004955412:19,464,666...19,476,425
Ensembl chrNW_004955412:19,464,613...19,478,990
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G |
Cd46 |
CD46 molecule |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:43,002,817...43,034,555
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G |
Cd48 |
CD48 molecule |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955468:12,398,671...12,411,241
Ensembl chrNW_004955468:12,396,032...12,410,086
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G |
Cd55 |
CD55 molecule (Cromer blood group) |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955406:42,773,368...42,796,205
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G |
Cd5l |
CD5 molecule like |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955468:9,670,958...9,690,331
Ensembl chrNW_004955468:9,667,514...9,689,150
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G |
Cd84 |
CD84 molecule |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955468:12,280,467...12,313,976
Ensembl chrNW_004955468:12,281,686...12,313,912
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G |
Cdc42bpa |
CDC42 binding protein kinase alpha |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:9,906,195...10,178,281
Ensembl chrNW_004955406:9,906,195...10,174,465
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G |
Cdc42se1 |
CDC42 small effector 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955588:423,091...440,248
Ensembl chrNW_004955588:423,091...429,917
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G |
Cdc73 |
cell division cycle 73 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:30,533,919...30,665,812
Ensembl chrNW_004955406:30,533,060...30,665,812
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G |
Cdk18 |
cyclin dependent kinase 18 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:41,228,802...41,256,413
Ensembl chrNW_004955406:41,228,678...41,252,543
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G |
Cdon |
cell adhesion associated, oncogene regulated |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793025 |
|
NCBI chrNW_004955412:27,004,391...27,093,968
Ensembl chrNW_004955412:27,003,919...27,065,989
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G |
Celf3 |
CUGBP Elav-like family member 3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chrNW_004955589:700,965...715,684
Ensembl chrNW_004955589:701,767...713,179
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G |
Cenpf |
centromere protein F |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:3,225,788...3,273,037
Ensembl chrNW_004955406:3,223,993...3,273,714
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G |
Cenpl |
centromere protein L |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chrNW_004955406:13,949,697...13,963,827
Ensembl chrNW_004955406:13,949,697...13,963,827
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G |
Cep135 |
centrosomal protein 135 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:1279971 PMID:1720553 PMID:7529964 PMID:15194144 PMID:28492532 |
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NCBI chrNW_004955447:14,934,334...15,004,077
Ensembl chrNW_004955447:14,934,269...15,004,302
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G |
Cep170 |
centrosomal protein 170 |
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