RGD DISEASE ONTOLOGY - ANNOTATIONS |
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RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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Term: | Connective and Soft Tissue Neoplasms |
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Accession: | DOID:9008612
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browse the term
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Definition: | Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue. |
Synonyms: | primary_id: | MESH:D018204 |
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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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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Traf7 |
TNF receptor associated factor 7 |
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ISO |
DNA:missense mutations:multiple |
RGD |
PMID:29148537 |
RGD:151356962 |
NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203
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Mmp1 |
matrix metallopeptidase 1 |
susceptibility |
ISO |
DNA:insertion:promoter:g.-1607insG (human) |
RGD |
PMID:17502998 |
RGD:7207034 |
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Chd6 |
chromodomain helicase DNA binding protein 6 |
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ISO |
ClinVar Annotator: match by term: Adult spinal cord ependymoma |
ClinVar |
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NCBI chr 3:149,596,509...149,757,765
Ensembl chr 3:149,596,509...149,757,755
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Apc |
APC regulator of WNT signaling pathway |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:11816139 |
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NCBI chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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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 chr 1:20,802,199...20,805,315
Ensembl chr 1:20,802,199...20,805,734
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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 chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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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 chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Tnf |
tumor necrosis factor |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:19944662 |
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NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Bcl2 |
BCL2, apoptosis regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10861090 |
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NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Foxo1 |
forkhead box O1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr 2:136,312,168...136,390,603
Ensembl chr 2:136,312,168...136,387,790
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Pax3 |
paired box 3 |
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ISO |
DNA:translocations: (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma |
CTD ClinVar OMIM RGD |
PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32747562 PMID:15313887 More...
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RGD:1580944 |
NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
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Pax7 |
paired box 7 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2 |
OMIM CTD ClinVar |
PMID:25741868 PMID:31092906 PMID:32214227 |
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NCBI chr 5:151,996,368...152,098,023
Ensembl chr 5:151,999,092...152,097,979
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Tp73 |
tumor protein p73 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:21245298 |
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NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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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 chr 2:141,651,159...141,766,919
Ensembl chr 2:141,648,108...141,766,968
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Aspscr1 |
ASPSCR1 tether for SLC2A4, UBX domain containing |
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ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr10:105,952,215...105,990,059
Ensembl chr10:105,952,227...105,989,904
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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 chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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Smo |
smoothened, frizzled class receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24859340 |
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NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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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 chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
mRNA:decreased expression:brain |
RGD |
PMID:19179066 |
RGD:13702872 |
NCBI chr 4:178,185,418...178,218,484
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Tp53 |
tumor protein p53 |
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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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Palb2 |
partner and localizer of BRCA2 |
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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 chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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Rnf213 |
ring finger protein 213 |
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ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:26822237 |
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NCBI chr10:104,656,329...104,755,669
Ensembl chr10:104,656,883...104,757,918
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Runx1 |
RUNX family transcription factor 1 |
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ISO |
ClinVar Annotator: match by term: Anaplastic ependymoma |
ClinVar |
PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 PMID:29365323 More...
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NCBI chr11:31,839,880...32,074,427
Ensembl chr11:31,843,764...32,074,542
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Cic |
capicua transcriptional repressor |
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ISO |
ClinVar Annotator: match by term: Anaplastic oligodendroglioma |
ClinVar |
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NCBI chr 1:80,853,920...80,880,537
Ensembl chr 1:80,853,920...80,880,532
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Creb1 |
cAMP responsive element binding protein 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
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Ogg1 |
8-oxoguanine DNA glycosylase |
no_association |
ISO |
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human) associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human) |
RGD |
PMID:19265534 PMID:17932460 PMID:17932460 |
RGD:8657154, RGD:8657155, RGD:8657155 |
NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
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Pten |
phosphatase and tensin homolog |
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ISO |
protein:increased expression:kidney (human) |
RGD |
PMID:22737271 |
RGD:12802360 |
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Stat1 |
signal transducer and activator of transcription 1 |
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ISO |
protein:increased serine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540
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Stat3 |
signal transducer and activator of transcription 3 |
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ISO |
protein:increased tyrosine phosphorylation:kidney |
RGD |
PMID:15994429 |
RGD:2298537 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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Tsc2 |
TSC complex subunit 2 |
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ISO |
associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney |
RGD |
PMID:19265534 |
RGD:8657154 |
NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Angpt2 |
angiopoietin 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804
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Ccnd1 |
cyclin D1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chr 1:200,089,002...200,098,524
Ensembl chr 1:200,089,002...200,098,602
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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 chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
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Csf3 |
colony stimulating factor 3 |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9774950 |
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NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
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Ctnnb1 |
catenin beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:13678655 |
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NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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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 chr12:7,296,899...7,468,626
Ensembl chr12:7,297,292...7,468,626
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Gja4 |
gap junction protein, alpha 4 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chr 5:139,633,324...139,635,857
Ensembl chr 5:139,633,287...139,635,925
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Hras |
HRas proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:10930038 |
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NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Jun |
Jun proto-oncogene, AP-1 transcription factor subunit |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chr 5:109,894,175...109,897,268
Ensembl chr 5:109,893,145...109,897,656
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Kcnn4 |
potassium calcium-activated channel subfamily N member 4 |
ameliorates |
ISO |
human cells in mouse model protein:increased expression:vasculature (human) |
RGD |
PMID:27531900 PMID:27531900 |
RGD:329955561, RGD:329955561 |
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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Kdr |
kinase insert domain receptor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Angiosarcoma |
CTD ClinVar |
PMID:8456858 PMID:10930038 PMID:12211074 PMID:13678655 PMID:20147967 PMID:20737008 PMID:21371307 PMID:24740626 PMID:25157968 PMID:25808193 PMID:28492532 PMID:34117033 More...
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NCBI chr 4:178,185,418...178,218,484
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Med12 |
mediator complex subunit 12 |
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ISO |
ClinVar Annotator: match by term: Angiosarcoma |
ClinVar |
PMID:26822237 |
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NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Myc |
MYC proto-oncogene, bHLH transcription factor |
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ISO |
CTD Direct Evidence: marker/mechanism associated with neoplasms, radiation-induced; DNA:amplification: (human) |
CTD RGD |
PMID:17569031 PMID:26440310 |
RGD:151665099 |
NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630
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Plcg1 |
phospholipase C, gamma 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24633157 |
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NCBI chr 3:149,385,587...149,416,330
Ensembl chr 3:149,385,587...149,416,330
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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 PMID:24633157 |
RGD:151665099, RGD:151361292 |
NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748
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Stat3 |
signal transducer and activator of transcription 3 |
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ISO |
protein:increased phosphorylation:blood vessel |
RGD |
PMID:18700251 |
RGD:8694308 |
NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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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 chr 5:109,607,077...109,733,805
Ensembl chr 5:109,607,077...109,733,804
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Tp53 |
tumor protein p53 |
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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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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Vegfa |
vascular endothelial growth factor A |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Vegfc |
vascular endothelial growth factor C |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17569031 |
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NCBI chr16:37,712,251...37,827,845
Ensembl chr16:37,712,262...37,827,848
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Mir542 |
microRNA 542 |
disease_progression |
ISO |
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RGD |
PMID:26286747 |
RGD:13782052 |
NCBI chr X:132,802,623...132,802,701
Ensembl chr X:132,802,623...132,802,701
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Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
severity |
ISO |
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RGD |
PMID:26956052 PMID:26286747 |
RGD:11343921, RGD:13782052 |
NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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Atm |
ATM serine/threonine kinase |
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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 chr 8:53,828,741...53,932,773
Ensembl chr 8:53,831,093...53,932,437
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C8h11orf65 |
similar to human chromosome 11 open reading frame 65 |
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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 chr 8:53,796,033...53,825,277
Ensembl chr 8:53,796,366...53,824,748
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Tsc2 |
TSC complex subunit 2 |
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ISO |
ClinVar Annotator: match by term: Astroblastoma, MN1-altered |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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Atrx |
ATRX, chromatin remodeler |
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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 chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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Derl3 |
derlin 3 |
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ISO |
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 |
ClinVar |
PMID:28492532 |
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NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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Gpc3 |
glypican 3 |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:23530909 |
RGD:243065128 |
NCBI chr X:131,868,986...132,236,824
Ensembl chr X:131,868,990...132,236,798
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G |
Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
susceptibility |
ISO ISS |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Familial Posterior Fossa Brain Tumor of Infancy | ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical OMIM:609322 |
CTD OMIM ClinVar MouseDO |
PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 PMID:12226744 PMID:17576681 PMID:18414213 PMID:19124645 PMID:21108436 PMID:21208904 PMID:24123847 PMID:24728327 PMID:25741868 PMID:27380723 PMID:28492532 PMID:28873162 PMID:29617669 PMID:34308366 More...
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NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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G |
Smarce1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 |
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ISO |
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
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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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Rhob |
ras homolog family member B |
|
IDA |
|
RGD |
PMID:1710770 |
RGD:704375 |
NCBI chr 6:31,363,752...31,365,926
Ensembl chr 6:31,363,548...31,366,108
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G |
H3f3a |
H3.3 histone A |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24162739 |
|
NCBI chr13:92,533,289...92,544,902
Ensembl chr13:92,533,298...92,544,908
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G |
Akt1 |
AKT serine/threonine kinase 1 |
|
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 chr 6:131,713,716...131,735,319
Ensembl chr 6:131,713,720...131,733,921
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G |
Atrx |
ATRX, chromatin remodeler |
|
ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532 |
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NCBI chr X:70,850,981...70,997,330
Ensembl chr X:70,850,981...70,997,330
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G |
Chek2 |
checkpoint kinase 2 |
|
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: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: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:36136322 PMID:36222830 PMID:36315097 PMID:36360192 PMID:36468172 PMID:36653541 PMID:36845387 PMID:36988593 PMID:37055167 PMID:37149759 PMID:37262986 PMID:37449874 PMID:37490054 More...
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NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
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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:28339091 PMID:27157136 |
RGD:42722011, RGD:42722013 |
NCBI chr 1:202,781,692...202,789,784
Ensembl chr 1:202,781,665...202,789,414
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G |
Ercc2 |
ERCC excision repair 2, TFIIH core complex helicase subunit |
|
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 chr 1:79,033,342...79,047,102
Ensembl chr 1:79,033,326...79,047,102
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G |
Rb1 |
RB transcriptional corepressor 1 |
|
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 chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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G |
Tp53 |
tumor protein p53 |
|
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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
Tsc2 |
TSC complex subunit 2 |
|
ISO |
ClinVar Annotator: match by term: Bone osteosarcoma |
ClinVar |
PMID:25741868 PMID:26822237 |
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NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951
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G |
Grm1 |
glutamate metabotropic receptor 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24658000 |
|
NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
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G |
Eef2 |
eukaryotic translation elongation factor 2 |
|
ISO |
protein:increased expression:brain (human) |
RGD |
PMID:24589652 |
RGD:153297816 |
NCBI chr 7:8,533,248...8,538,518
Ensembl chr 7:8,533,116...8,559,183
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G |
Mir139 |
microRNA 139 |
|
ISO |
RNA:decreased expression:brain: |
RGD |
PMID:26449464 |
RGD:13838722 |
NCBI chr 1:155,878,828...155,878,895
Ensembl chr 1:155,878,825...155,878,902
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G |
Ncam1 |
neural cell adhesion molecule 1 |
disease_progression |
ISO |
|
RGD |
PMID:20219118 |
RGD:40924672 |
NCBI chr 8:49,865,629...50,165,687
Ensembl chr 8:49,865,633...50,166,014
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
|
IEP |
human, rat, and/or mouse glioma cells in a mouse model |
RGD |
PMID:30790292 |
RGD:150573813 |
NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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G |
Adam3a |
ADAM metallopeptidase domain 3A |
|
ISO |
DNA:deletion |
RGD |
PMID:21138945 |
RGD:13831351 |
NCBI chr16:67,299,949...67,349,970
Ensembl chr16:67,299,949...67,349,968
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G |
Bax |
BCL2 associated X, apoptosis regulator |
treatment |
IEP IDA |
|
RGD |
PMID:27255231 PMID:29324390 |
RGD:13792502, RGD:13792598 |
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
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G |
Bcl2 |
BCL2, apoptosis regulator |
treatment |
IEP IDA |
|
RGD |
PMID:27255231 PMID:29324390 |
RGD:13792502, RGD:13792598 |
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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G |
Birc3 |
baculoviral IAP repeat-containing 3 |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 8:5,000,844...5,028,470
Ensembl chr 8:5,000,845...5,015,802
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G |
Birc5 |
baculoviral IAP repeat-containing 5 |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr10:103,072,530...103,081,382
Ensembl chr10:103,073,408...103,081,380
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G |
Bst2 |
bone marrow stromal cell antigen 2 |
|
ISO |
mRNA,protein:increased expression:brain: |
RGD |
PMID:21565182 |
RGD:14398497 |
NCBI chr16:18,216,605...18,220,979
Ensembl chr16:18,217,407...18,220,979
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G |
Casp3 |
caspase 3 |
treatment |
IDA |
|
RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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G |
Fadd |
Fas associated via death domain |
treatment |
IEP |
|
RGD |
PMID:27255231 |
RGD:13792502 |
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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G |
Fas |
Fas cell surface death receptor |
treatment |
IDA |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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G |
Faslg |
Fas ligand |
treatment |
IDA |
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RGD |
PMID:29324390 |
RGD:13792598 |
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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G |
Foxa1 |
forkhead box A1 |
disease_progression |
ISO |
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RGD |
PMID:23510544 |
RGD:151665742 |
NCBI chr 6:75,099,907...75,136,534
Ensembl chr 6:75,103,503...75,136,188
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G |
Gapdh |
glyceraldehyde-3-phosphate dehydrogenase |
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IEP |
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RGD |
PMID:26032618 |
RGD:13792685 |
NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
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G |
Kdr |
kinase insert domain receptor |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:33900414 |
RGD:151660356 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
Mir21 |
microRNA 21 |
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ISO |
human cells in mouse model; RNA:increased expression:brain (human) |
RGD |
PMID:25059666 |
RGD:152998875 |
NCBI chr10:71,405,257...71,405,348
Ensembl chr10:71,405,257...71,405,348
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G |
Naip6 |
NLR family, apoptosis inhibitory protein 6 |
exacerbates |
ISO |
mRNA:increased expression:brain (human) |
RGD |
PMID:31964418 |
RGD:153344516 |
NCBI chr 2:31,507,423...31,559,098
Ensembl chr 2:31,507,424...31,570,542
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G |
Ptprb |
protein tyrosine phosphatase, receptor type, B |
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ISO |
protein:increased expression:brain (human) human cell in mouse model |
RGD |
PMID:33900414 PMID:16923162 |
RGD:151660356, RGD:151660368 |
NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748
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G |
Vegfa |
vascular endothelial growth factor A |
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ISO |
protein:increased expression:brain (human) |
RGD |
PMID:33900414 |
RGD:151660356 |
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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G |
Xrcc1 |
X-ray repair cross complementing 1 |
susceptibility |
ISO |
DNA:SNP:exon 10: p.R399Q (human) |
RGD |
PMID:18330515 |
RGD:401827274 |
NCBI chr 1:80,140,495...80,168,705
Ensembl chr 1:80,141,207...80,168,701
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G |
Xrcc3 |
X-ray repair cross complementing 3 |
susceptibility |
ISO |
DNA:SNP:exon 8: p.T241M (rs861539) (Human) |
RGD |
PMID:18330515 |
RGD:401827274 |
NCBI chr 6:130,863,405...130,873,765
Ensembl chr 6:130,863,959...130,872,444
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G |
Pax3 |
paired box 3 |
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ISO |
mRNA,protein:increased expression:brain stem: |
RGD |
PMID:25330836 |
RGD:13702891 |
NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042
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G |
Pdgfra |
platelet derived growth factor receptor alpha |
severity |
ISO |
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RGD |
PMID:20197468 |
RGD:13702892 |
NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335
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G |
Kdr |
kinase insert domain receptor |
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ISO |
DNA:mutation:multiple (human) |
RGD |
PMID:32123305 |
RGD:151665102 |
NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018
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G |
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 chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Ptprb |
protein tyrosine phosphatase, receptor type, B |
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ISO |
DNA:mutation:multiple (human) |
RGD |
PMID:32123305 |
RGD:151665102 |
NCBI chr 7:51,953,375...52,034,751
Ensembl chr 7:51,930,015...52,034,748
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G |
Wnt7b |
Wnt family member 7B |
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ISO |
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RGD |
PMID:8168088 |
RGD:2291878 |
NCBI chr 7:116,634,817...116,679,459
Ensembl chr 7:116,634,814...116,679,581
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G |
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 chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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G |
Ccn1 |
cellular communication network factor 1 |
disease_progression |
ISO |
mRNA:increased expression:skin (human) |
RGD |
PMID:33587560 |
RGD:329845523 |
NCBI chr 2:234,562,410...234,565,370
Ensembl chr 2:234,562,408...234,565,484
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G |
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 chr18:3,379,482...3,425,100
Ensembl chr18:3,379,482...3,425,049
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G |
Tgfb1 |
transforming growth factor, beta 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15132766 |
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NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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G |
Vim |
vimentin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:15132766 |
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NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187
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G |
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 chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672
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G |
Prkar1a |
protein kinase cAMP-dependent type I regulatory subunit alpha |
|
ISO ISS |
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:160980 | OMIM:605244 | OMIM:608837 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar MouseDO CTD |
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 chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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G |
Myh8 |
myosin heavy chain 8 |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Carney complex variant |
OMIM CTD ClinVar |
PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 PMID:15590965 PMID:17041932 PMID:18049072 PMID:20949528 PMID:25741868 PMID:28492532 More...
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NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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G |
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 chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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G |
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 chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
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G |
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:25787132 PMID:26173966 PMID:28492532 More...
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NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
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G |
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 chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
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G |
Btg4 |
BTG anti-proliferation factor 4 |
|
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 chr 8:51,410,774...51,425,802
Ensembl chr 8:51,422,061...51,425,796
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G |
C8h11orf52 |
similar to human chromosome 11 open reading frame 52 |
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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 chr 8:51,081,342...51,088,333
Ensembl chr 8:51,081,342...51,094,533
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G |
Cfap68 |
cilia and flagella associated protein 68 |
|
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 chr 8:51,107,663...51,113,192
Ensembl chr 8:51,107,721...51,113,420
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G |
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 chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157
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G |
Dixdc1 |
DIX domain containing 1 |
|
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 chr 8:51,007,835...51,081,191
Ensembl chr 8:51,007,838...51,081,090
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G |
Dlat |
dihydrolipoamide S-acetyltransferase |
|
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 chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
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G |
Fdxacb1 |
ferredoxin-fold anticodon binding domain containing 1 |
|
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 chr 8:51,111,831...51,118,253
Ensembl chr 8:51,113,397...51,118,308
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G |
Hoatz |
HOATZ cilia and flagella associated protein |
|
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 chr 8:51,385,931...51,409,796
Ensembl chr 8:51,388,382...51,412,514
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G |
Hspb2 |
heat shock protein family B (small) member 2 |
|
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 chr 8:51,093,267...51,094,528
Ensembl chr 8:51,081,342...51,094,533
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G |
Layn |
layilin |
|
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 chr 8:51,363,928...51,384,748
Ensembl chr 8:51,367,091...51,384,330
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G |
Mir34b |
microRNA 34b |
|
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 chr 8:51,410,244...51,410,327
Ensembl chr 8:51,410,244...51,410,327
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G |
Mir34c |
microRNA 34c |
|
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 chr 8:51,409,726...51,409,802
Ensembl chr 8:51,409,726...51,409,802
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G |
Mpz |
myelin protein zero |
|
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 chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679
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G |
Nkapd1 |
NKAP domain containing 1 |
|
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 chr 8:50,955,650...50,966,915
Ensembl chr 8:50,955,654...50,966,830
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G |
Pih1d2 |
PIH1 domain containing 2 |
|
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 chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
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G |
Pou2af1 |
POU class 2 homeobox associating factor 1 |
|
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 chr 8:51,521,813...51,548,819
Ensembl chr 8:51,474,015...51,548,819
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G |
Pou2af3 |
POU class 2 homeobox associating factor 3 |
|
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 chr 8:51,588,237...51,597,114
Ensembl chr 8:51,588,237...51,603,855
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G |
Ppp2r1b |
protein phosphatase 2 scaffold subunit A beta |
|
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 chr 8:51,195,860...51,228,442
Ensembl chr 8:51,186,717...51,228,485
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G |
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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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 chr 5:153,264,906...153,285,570
Ensembl chr 5:153,264,899...153,314,293
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G |
Sdhc |
succinate dehydrogenase complex subunit C |
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ISO |
ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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:25787132 PMID:26173966 PMID:26273102 PMID:26467025 PMID:27700540 PMID:28492532 PMID:28819017 PMID:30548481 PMID:34750850 More...
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NCBI chr13:83,544,652...83,565,560
Ensembl chr13:83,544,652...83,566,253
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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
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 chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238
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G |
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 chr 8:51,225,543...51,325,343
Ensembl chr 8:51,225,543...51,325,415
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G |
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 chr 8:50,954,350...50,955,730
Ensembl chr 8:50,954,342...50,955,729
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G |
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 chr 2:23,585,876...23,611,199
Ensembl chr 2:23,586,031...23,613,713
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G |
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 chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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G |
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 chr 2:23,444,326...23,585,777
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G |
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 chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
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G |
Msh6 |
mutS homolog 6 |
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ISO |
ClinVar Annotator: match by term: Cerebellar medulloblastoma |
ClinVar |
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NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956
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G |
Rtel1 |
regulator of telomere elongation helicase 1 |
ameliorates susceptibility |
ISO |
DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human) DNA:SNP:cds:rs4809324 (human) |
RGD |
PMID:26014354 PMID:26014354 |
RGD:152985535, RGD:152985535 |
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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G |
Mapk1 |
mitogen activated protein kinase 1 |
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ISO |
protein:increased expression:brain: |
RGD |
PMID:21466243 |
RGD:13702864 |
NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
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G |
H3f3b |
H3.3 histone B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24162739 |
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NCBI chr10:101,256,484...101,258,716
Ensembl chr10:101,256,480...101,258,709
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G |
Myl3 |
myosin light chain 3 |
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ISO |
ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
ClinVar |
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NCBI chr 8:110,738,669...110,744,814
Ensembl chr 8:110,738,661...110,744,816
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G |
Pth1r |
parathyroid hormone 1 receptor |
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ISO |
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type |
OMIM CTD 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 chr 8:110,693,910...110,725,458
Ensembl chr 8:110,697,485...110,719,729
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G |
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 chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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G |
Idh2 |
isocitrate dehydrogenase (NADP(+)) 2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:22057234 PMID:25895133 |
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NCBI chr 1:134,038,644...134,057,969
Ensembl chr 1:134,029,772...134,058,025
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G |
Ihh |
Indian hedgehog signaling molecule |
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ISO |
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RGD |
PMID:26091072 |
RGD:12910968 |
NCBI chr 9:76,504,315...76,510,532
Ensembl chr 9:76,504,315...76,510,532
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G |
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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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G |
Smo |
smoothened, frizzled class receptor |
treatment |
ISO |
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RGD |
PMID:26091072 |
RGD:12910968 |
NCBI chr 4:58,343,626...58,373,823
Ensembl chr 4:58,343,529...58,373,829
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G |
Chi3l1 |
chitinase 3 like 1 |
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ISO |
mRNA:increased expression:tumor (human) |
RGD |
PMID:12598313 |
RGD:4892624 |
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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G |
Col2a1 |
collagen type II alpha 1 chain |
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ISO |
DNA:mutations:multiple (human) CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:23770606 PMID:23770606 |
RGD:8657387 |
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
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G |
Ext1 |
exostosin glycosyltransferase 1 |
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ISO |
ClinVar Annotator: match by term: Chondrosarcoma | ClinVar Annotator: match by term: Chondrosarcoma, somatic CTD Direct Evidence: marker/mechanism mRNA:decreased expression:epiphyseal plate (human) |
OMIM ClinVar CTD RGD |
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 PMID:17226760 More...
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RGD:13208235 |
NCBI chr 7:84,375,769...84,654,625
Ensembl chr 7:84,375,784...84,655,357
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
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IEP |
protein:increased expression:growth plate |
RGD |
PMID:17907424 |
RGD:11568634 |
NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
Mtor |
mechanistic target of rapamycin kinase |
disease_progression |
IMP |
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RGD |
PMID:22761648 |
RGD:10040952 |
NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
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G |
Taf15 |
TATA-box binding protein associated factor 15 |
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ISO |
extraskeletal myxoid chondrosarcomas (EMC) |
RGD |
PMID:10602519 |
RGD:1599281 |
NCBI chr10:68,272,921...68,304,951
Ensembl chr10:68,272,969...68,304,949
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G |
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 chr10:92,889,390...93,288,013
Ensembl chr10:92,894,012...93,288,012
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G |
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 chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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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 chr12:45,181,794...45,220,959
Ensembl chr12:45,183,085...45,221,651
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G |
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 chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
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G |
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 chr 1:52,298,104...52,309,813
Ensembl chr 1:52,298,099...52,305,864
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G |
Fgf8 |
fibroblast growth factor 8 |
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ISO |
testicular germ cell neoplasms |
RGD |
PMID:11764380 |
RGD:2289339 |
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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G |
Igf2 |
insulin-like growth factor 2 |
disease_progression |
ISO |
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RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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G |
Insr |
insulin receptor |
disease_progression |
ISO |
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RGD |
PMID:17556377 |
RGD:2290454 |
NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Pdgfrb |
platelet derived growth factor receptor beta |
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ISO |
mRNA:increased expression:mononuclear cytotrophoblast cell |
RGD |
PMID:8504434 |
RGD:2292200 |
NCBI chr18:54,499,962...54,538,840
Ensembl chr18:54,499,964...54,538,843
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G |
Timp3 |
TIMP metallopeptidase inhibitor 3 |
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ISO |
DNA, protein:hypermethylation, decreased expression:promoter, placenta |
RGD |
PMID:15507671 |
RGD:2290418 |
NCBI chr 7:17,520,827...17,571,850
Ensembl chr 7:17,521,919...17,571,839
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G |
Acod1 |
aconitate decarboxylase 1 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,871,819...79,881,101
Ensembl chr15:79,871,827...79,880,529
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G |
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 chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
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G |
Arl11 |
ADP-ribosylation factor like GTPase 11 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,483,330...35,485,579
Ensembl chr15:35,480,018...35,496,596
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G |
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 chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
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G |
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 chr15:75,797,624...75,835,599
Ensembl chr15:75,797,891...75,821,322
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G |
C15h13orf42 |
similar to human chromosome 13 open reading frame 42 |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,674,840...36,701,304
Ensembl chr15:36,677,527...36,701,211
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G |
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 chr15:33,606,588...33,710,518
Ensembl chr15:33,606,694...33,743,545
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G |
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 chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
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G |
Cdadc1 |
cytidine and dCMP deaminase domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,726,590...33,755,611
Ensembl chr15:33,723,435...33,755,576
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G |
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 chr16:69,839,668...69,864,852
Ensembl chr16:69,839,630...69,864,913
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G |
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 chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
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G |
Cnmd |
chondromodulin |
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ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,041,548...55,066,297
Ensembl chr15:55,041,561...55,066,297
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G |
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 chr15:78,467,333...78,474,382
Ensembl chr15:78,467,804...78,474,382
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G |
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 chr15:48,189,476...48,228,750
Ensembl chr15:48,189,073...48,304,136
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G |
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 chr15:74,528,122...74,909,811
Ensembl chr15:74,529,208...74,909,922
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G |
Diaph3 |
diaphanous-related formin 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
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G |
Dis3 |
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
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G |
Dleu7 |
deleted in lymphocytic leukemia, 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,479,533...36,495,730
Ensembl chr15:36,479,534...36,495,697
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G |
Ebpl |
EBP like |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,508,074...35,531,472
Ensembl chr15:35,508,074...35,531,472
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G |
Ednrb |
endothelin receptor type B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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G |
Fam124a |
family with sequence similarity 124 member A |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
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G |
Fbxl3 |
F-box and leucine-rich repeat protein 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,906,795...79,926,678
Ensembl chr15:79,906,795...79,927,867
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G |
Fndc3a |
fibronectin type III domain containing 3a |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:47,689,909...47,867,354
Ensembl chr15:47,689,919...47,866,784
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G |
Ints6 |
integrator complex subunit 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
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G |
Itm2b |
integral membrane protein 2B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917
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G |
Kcnrg |
potassium channel regulator |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,774,456...35,779,409
Ensembl chr15:35,774,326...35,779,415
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G |
Kctd12 |
potassium channel tetramerization domain containing 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,800,078...79,806,017
Ensembl chr15:79,801,191...79,806,282
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G |
Klf12 |
KLF transcription factor 12 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:76,628,778...77,062,000
Ensembl chr15:76,637,654...77,062,056
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G |
Klf5 |
KLF transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:76,060,320...76,079,445
Ensembl chr15:76,064,258...76,079,445
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G |
Klhl1 |
kelch-like family member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:72,698,191...73,142,726
Ensembl chr15:72,699,094...73,142,594
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G |
Kpna3 |
karyopherin subunit alpha 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,536,310...35,610,066
Ensembl chr15:35,536,316...35,610,419
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G |
Lmo7 |
LIM domain 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,566,999...78,769,833
Ensembl chr15:78,567,023...78,769,783
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G |
Lpar6 |
lysophosphatidic acid receptor 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,416,548...48,418,357
Ensembl chr15:48,416,544...48,422,331
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G |
Med4 |
mediator complex subunit 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,696,542...48,706,818
Ensembl chr15:48,696,511...48,706,820
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G |
Mycbp2 |
MYC binding protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:79,937,354...80,175,432
Ensembl chr15:79,937,354...80,175,498
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G |
Mzt1 |
mitotic spindle organizing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,787,281...75,797,589
Ensembl chr15:75,786,994...75,797,589
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G |
Ndfip2 |
Nedd4 family interacting protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:82,032,366...82,087,043
Ensembl chr15:82,032,366...82,086,317
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G |
Nek3 |
NIMA-related kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,867,020...69,892,477
Ensembl chr16:69,867,047...69,892,508
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G |
Nek5 |
NIMA-related kinase 5 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,895,414...69,938,668
Ensembl chr16:69,895,422...69,939,429
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G |
Nudt15 |
nudix hydrolase 15 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,707,776...48,713,847
Ensembl chr15:48,709,700...48,747,363
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G |
Obi1 |
ORC ubiquitin ligase 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,269,413...81,308,734
Ensembl chr15:81,269,416...81,308,734
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G |
Olfm4 |
olfactomedin 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,385,100...55,429,687
Ensembl chr15:55,407,148...55,429,681
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G |
Pcdh17 |
protocadherin 17 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:60,222,088...60,316,172
Ensembl chr15:60,222,004...60,313,999
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G |
Pcdh20 |
protocadherin 20 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:64,425,534...64,431,790
Ensembl chr15:64,425,534...64,431,790
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G |
Pcdh8 |
protocadherin 8 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:55,198,470...55,203,039
Ensembl chr15:55,198,459...55,205,872
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G |
Pcdh9 |
protocadherin 9 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:69,340,108...70,237,531
Ensembl chr15:69,340,645...70,237,538
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G |
Phf11 |
PHD finger protein 11 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,390,290...33,414,647
Ensembl chr15:33,390,292...33,413,009
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G |
Pibf1 |
progesterone immunomodulatory binding factor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:75,850,389...76,019,711
Ensembl chr15:75,850,624...76,019,712
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G |
Pou4f1 |
POU class 4 homeobox 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728
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G |
Prr20e |
proline rich 20E |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr 4:121,566,632...121,574,734
Ensembl chr 4:121,571,797...121,573,140
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G |
Rb1 |
RB transcriptional corepressor 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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G |
Rbm26 |
RNA binding motif protein 26 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:81,884,783...81,964,245
Ensembl chr15:81,887,219...81,964,118
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G |
Rcbtb1 |
RCC1 and BTB domain containing protein 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302
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G |
Rcbtb2 |
RCC1 and BTB domain containing protein 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,319,809...48,364,441
Ensembl chr15:48,323,866...48,383,750
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G |
Rnaseh2b |
ribonuclease H2, subunit B |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
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G |
Scel |
sciellin |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,339,661...80,456,546
Ensembl chr15:80,339,951...80,456,372
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G |
Serpine3 |
serpin family E member 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
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G |
Setdb2 |
SET domain bifurcated histone lysine methyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:33,553,657...33,606,586
Ensembl chr15:33,453,952...33,606,470
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G |
Slain1 |
SLAIN motif family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:80,482,818...80,542,461
Ensembl chr15:80,482,367...80,542,350
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G |
Slitrk1 |
SLIT and NTRK-like family, member 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
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G |
Slitrk6 |
SLIT and NTRK-like family, member 6 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
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G |
Spry2 |
sprouty RTK signaling antagonist 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009
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G |
Spryd7 |
SPRY domain containing 7 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,707,185...35,727,704
Ensembl chr15:35,707,060...35,727,509
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G |
Sucla2 |
succinate-CoA ligase ADP-forming subunit beta |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:48,752,356...48,805,495
Ensembl chr15:48,752,312...48,805,138
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G |
Sugt1 |
SGT1 homolog, MIS12 kinetochore complex assembly cochaperone |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:54,991,419...55,032,244
Ensembl chr15:54,990,672...55,069,150
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G |
Tbc1d4 |
TBC1 domain family, member 4 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,256,030...78,434,168
Ensembl chr15:78,257,121...78,434,265
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G |
Tdrd3 |
tudor domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:63,340,531...63,497,208
Ensembl chr15:63,341,235...63,476,110
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G |
Thsd1 |
thrombospondin type 1 domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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G |
Trim13 |
tripartite motif-containing 13 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:35,733,548...35,772,676
Ensembl chr15:35,734,107...35,772,677
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G |
Uchl3 |
ubiquitin C-terminal hydrolase L3 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:78,485,304...78,527,355
Ensembl chr15:78,485,315...78,527,355 Ensembl chr 3:78,485,315...78,527,355
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G |
Vps36 |
vacuolar protein sorting 36 homolog |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr16:69,810,404...69,834,789
Ensembl chr16:69,808,193...69,834,810
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G |
Wdfy2 |
WD repeat and FYVE domain containing 2 |
|
ISO |
ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome |
ClinVar |
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NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
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G |
Akr1c2 |
aldo-keto reductase family 1, member C2 |
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ISO |
ClinVar Annotator: match by term: CIC-rearranged sarcoma |
ClinVar |
PMID:21802064 PMID:25741868 |
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NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764
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G |
Gp1ba |
glycoprotein Ib platelet subunit alpha |
|
ISO |
ClinVar Annotator: match by term: CIC-DUX Sarcoma |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr10:55,352,938...55,355,804
Ensembl chr10:55,352,899...55,356,774
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G |
Usf3 |
upstream transcription factor family member 3 |
|
ISO |
ClinVar Annotator: match by term: CIC-rearranged sarcoma |
ClinVar |
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NCBI chr11:56,470,738...56,529,736
Ensembl chr11:56,476,122...56,529,884
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G |
Bcor |
BCL6 co-repressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26098867 |
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NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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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 chr 7:8,163,520...8,177,863
Ensembl chr 7:8,162,750...8,179,812
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G |
Pik3ca |
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha |
|
ISO ISS |
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:612918 CTD Direct Evidence: marker/mechanism DNA: missense mutations: exon :p.H1047R, p.H1047L |
OMIM ClinVar MouseDO CTD RGD |
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:29446767 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:36474027 PMID:37667289 PMID:37712948 PMID:22729222 More...
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RGD:13207409 |
NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032
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G |
Pik3r1 |
phosphoinositide-3-kinase regulatory subunit 1 |
|
ISO |
ClinVar Annotator: match by term: CLOVES syndrome |
ClinVar |
PMID:25741868 PMID:34040190 |
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NCBI chr 2:32,878,942...32,963,668
Ensembl chr 2:32,882,032...32,963,631
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G |
Sufu |
SUFU negative regulator of hedgehog signaling |
|
ISO |
ClinVar Annotator: match by term: Congenital fibrosarcoma |
ClinVar |
|
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NCBI chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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G |
Tp53 |
tumor protein p53 |
|
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 chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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G |
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 chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705
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G |
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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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G |
Kitlg |
KIT ligand |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20559008 |
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NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214
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G |
Col1a1 |
collagen type I alpha 1 chain |
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ISO |
DNA:gene fusion:exon associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion |
RGD |
PMID:12641779 PMID:22153773 |
RGD:2292195, RGD:5688300 |
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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G |
Pdgfb |
platelet derived growth factor subunit B |
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ISO |
DNA:gene fusion:exon ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:25741868 PMID:28492532 PMID:12641779 |
RGD:2292195 |
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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G |
Foxo3 |
forkhead box O3 |
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ISS |
OMIM:166950 |
MouseDO |
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NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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G |
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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
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 chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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G |
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 chr10:4,301,023...4,306,889
Ensembl chr10:4,301,038...4,306,788
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G |
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 chr 1:245,237,821...245,256,618
Ensembl chr 1:245,237,826...245,256,495
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G |
Arid2 |
AT-rich interaction domain 2 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:26580448 |
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NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
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G |
Arl3 |
ADP ribosylation factor like GTPase 3 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820
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G |
As3mt |
arsenite methyltransferase |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,595,939...245,628,921
Ensembl chr 1:245,596,108...245,627,872
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G |
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 chr 1:245,973,910...245,980,702
Ensembl chr 1:245,973,914...245,980,761 Ensembl chr10:245,973,914...245,980,761
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G |
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 chr 1:245,564,347...245,578,182
Ensembl chr 1:245,564,369...245,579,343
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G |
C1h10orf95 |
similar to human chromosome 10 open reading frame 95 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,210,228...245,212,080
Ensembl chr 1:245,210,973...245,211,602
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G |
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 chr 1:246,030,269...246,032,988
Ensembl chr 1:246,030,269...246,032,988
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G |
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 chr 1:246,022,324...246,028,050
Ensembl chr 1:246,022,324...246,028,218
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G |
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 chr 1:246,043,258...246,048,259
Ensembl chr 1:246,043,258...246,048,259
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G |
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 chr 1:246,625,259...246,712,438
Ensembl chr 1:246,625,262...246,712,443
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G |
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 chr 1:246,802,691...246,911,363
Ensembl chr 1:246,802,665...246,911,374
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G |
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 chr 1:245,643,682...245,769,542
Ensembl chr 1:245,643,768...245,763,286
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G |
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 chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632
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G |
Ctcf |
CCCTC-binding factor |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
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NCBI chr19:33,521,726...33,571,124
Ensembl chr19:33,529,319...33,571,123
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G |
Cyp17a1 |
cytochrome P450, family 17, subfamily a, polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573
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G |
Gsto1 |
glutathione S-transferase omega 1 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,721,089...246,731,228
Ensembl chr 1:246,721,221...246,731,468
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G |
Gsto2 |
glutathione S-transferase omega 2 |
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ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,731,314...246,757,592
Ensembl chr 1:246,732,089...246,753,866
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G |
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 chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330
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G |
Itprip |
inositol 1,4,5-trisphosphate receptor interacting protein |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,762,804...246,786,379
Ensembl chr 1:246,762,472...246,786,408
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G |
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 chr 1:245,216,610...245,236,314
Ensembl chr 1:245,217,067...245,236,767
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G |
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 chr 1:246,066,830...246,152,890
Ensembl chr 1:246,067,100...246,152,903
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G |
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 chr 1:245,770,993...245,896,925
Ensembl chr 1:245,772,277...245,897,913
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G |
Pcgf6 |
polycomb group ring finger 6 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,925,354...245,944,964
Ensembl chr 1:245,925,360...245,944,914
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G |
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 chr 1:245,980,840...246,021,999
Ensembl chr 1:245,980,880...246,021,999
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G |
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 chr 1:246,619,235...246,623,250
Ensembl chr 1:246,597,044...246,623,250
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G |
Sfxn2 |
sideroflexin 2 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:245,447,014...245,459,312
Ensembl chr 1:245,447,015...245,468,411 Ensembl chr 1:245,447,015...245,468,411
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G |
Sh3pxd2a |
SH3 and PX domains 2A |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,153,660...246,359,806
Ensembl chr 1:246,160,502...246,360,166
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G |
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 chr 1:246,473,712...246,529,643
Ensembl chr 1:246,473,712...246,526,530
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G |
Sorcs3 |
sortilin-related VPS10 domain containing receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:247,099,178...247,734,027
Ensembl chr 1:247,099,408...247,734,027
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G |
Stn1 |
STN1 subunit of CST complex |
|
ISO |
ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma |
ClinVar |
PMID:12068298 |
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NCBI chr 1:246,391,311...246,429,844
Ensembl chr 1:246,395,613...246,429,531
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G |
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 chr 1:245,257,725...245,355,576
Ensembl chr 1:245,257,768...245,355,577
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G |
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 chr 1:245,958,428...245,973,914
Ensembl chr 1:245,958,428...245,973,914
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G |
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 chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513
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G |
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 chr 1:245,472,292...245,528,627
Ensembl chr 1:245,472,296...245,528,627
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G |
Mtap |
methylthioadenosine phosphorylase |
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ISO |
CTD Direct Evidence: marker/mechanism 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 CTD 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 chr 5:103,874,460...103,920,684
Ensembl chr 5:103,873,020...103,939,406
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G |
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 chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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G |
Brip1 |
BRCA1 interacting 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 chr10:70,907,266...71,031,502
Ensembl chr10:70,907,371...71,030,324
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G |
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 chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
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 chr 6:22,879,653...23,599,636
Ensembl chr 6:22,880,625...23,598,034
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G |
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 chr12:59,492...103,789
Ensembl chr12:59,819...100,567
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G |
Cdk4 |
cyclin-dependent kinase 4 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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G |
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 chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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G |
Fgfr3 |
fibroblast growth factor receptor 3 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341
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G |
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 chr 9:66,534,146...66,563,703
Ensembl chr 9:66,534,146...66,563,708
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G |
Kdm5b |
lysine demethylase 5B |
|
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 chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872
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G |
Nf1 |
neurofibromin 1 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:26740943 PMID:28492532 PMID:31882575 |
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NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Pms2 |
PMS1 homolog 2, mismatch repair system component |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:23435383 PMID:25741868 PMID:28492532 PMID:35451539 |
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NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
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G |
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 chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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G |
Sdha |
succinate dehydrogenase complex flavoprotein subunit A |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535
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G |
Tp53 |
tumor protein p53 |
|
ISO |
ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
ClinVar |
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8718514 PMID:8829627 PMID:11370630 PMID:11782540 PMID:12826609 PMID:15958617 PMID:16206219 PMID:16818505 PMID:17015838 PMID:17606709 PMID:19012332 PMID:19468865 PMID:20407015 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:24573247 PMID:24857548 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26585234 PMID:26619011 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32475984 PMID:33407742 More...
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NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
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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 chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388
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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 chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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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 chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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Bcor |
BCL6 co-repressor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:29376028 |
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NCBI chr X:10,609,756...10,729,613
Ensembl chr X:10,687,732...10,729,613
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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 chr 3:105,563,089...105,615,547
Ensembl chr 3:105,563,138...105,615,547
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Dmd |
dystrophin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24793134 |
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NCBI chr X:47,272,324...49,504,219
Ensembl chr X:47,272,331...49,504,207
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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 chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
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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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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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 chr 8:110,511,808...110,597,475
Ensembl chr 8:110,511,772...110,597,489
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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 chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
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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 chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010
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Slc22a18 |
solute carrier family 22, member 18 |
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ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr 1:198,670,626...198,694,977
Ensembl chr 1:198,671,731...198,694,975
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Dicer1 |
dicer 1 ribonuclease III |
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ISO |
ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:24728327 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:30097050 PMID:30446821 PMID:32714280 PMID:34291157 PMID:34313605 More...
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NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965
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Afp |
alpha-fetoprotein |
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ISO |
protein:increased expression:serum |
RGD |
PMID:17525908 |
RGD:2292040 |
NCBI chr14:17,573,412...17,591,476
Ensembl chr14:17,573,412...17,591,480
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Ctnnb1 |
catenin beta 1 |
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ISO |
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RGD |
PMID:16822086 |
RGD:2298800 |
NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
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Fgf8 |
fibroblast growth factor 8 |
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ISO |
testicular germ cell neoplasms |
RGD |
PMID:11764380 |
RGD:2289339 |
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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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 chr 3:157,474,067...157,491,055
Ensembl chr 3:157,474,642...157,490,822
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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 chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421
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Wnt2b |
Wnt family member 2B |
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ISO |
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RGD |
PMID:16822086 |
RGD:2298800 |
NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308
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Kit |
KIT proto-oncogene receptor tyrosine kinase |
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ISO |
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RGD |
PMID:17367465 |
RGD:2292170 |
NCBI chr14:32,547,459...32,624,694
Ensembl chr14:32,548,877...32,624,652
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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 chr 1:182,277,163...182,324,274
Ensembl chr 1:182,260,164...182,324,163
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Ephb2 |
Eph receptor B2 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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Gdnf |
glial cell derived neurotrophic factor |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138852 |
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NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Igf2 |
insulin-like growth factor 2 |
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ISO |
mRNA:increased expression:cerebellum |
RGD |
PMID:18478565 |
RGD:5509961 |
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Rab3a |
RAB3A, member RAS oncogene family |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr16:18,684,185...18,688,297
Ensembl chr16:18,684,188...18,688,336
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Rtbdn |
retbindin |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
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Shc3 |
SHC adaptor protein 3 |
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ISO |
DNA:amplification:brain: |
RGD |
PMID:19748727 |
RGD:13782069 |
NCBI chr17:13,652,247...13,772,710
Ensembl chr17:13,651,202...13,772,710
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Zfp668 |
zinc finger protein 668 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26075792 |
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NCBI chr 1:182,474,633...182,484,957
Ensembl chr 1:182,474,633...182,492,878
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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 chr X:105,118,762...105,322,699
Ensembl chr X:105,118,820...105,322,692
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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 chr X:104,766,463...105,117,499
Ensembl chr X:104,766,957...105,117,500
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Smarcb1 |
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 |
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ISO |
protein:decreased expression:epithelial cell: |
RGD |
PMID:19033866 |
RGD:155804293 |
NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
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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 chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
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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 chr20:54,418,239...54,422,882
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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 chr 7:62,886,124...62,889,562
Ensembl chr 7:62,883,105...62,942,403
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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 chr 3:15,658,479...15,673,762
Ensembl chr 3:15,658,539...15,673,762
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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 chr20:21,051,270...21,056,322
Ensembl chr20:21,051,277...21,055,562
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Ewsr1 |
EWS RNA-binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Ewing sarcoma CTD Direct Evidence: marker/mechanism |
ClinVar CTD OMIM RGD |
PMID:16646077 PMID:25741868 PMID:26214589 PMID:27006472 PMID:28492532 PMID:1522903 More...
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RGD:1598915 |
NCBI chr14:79,965,365...79,994,108
Ensembl chr14:79,965,368...79,994,544
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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 chr 8:30,831,422...30,950,468
Ensembl chr 8:30,832,753...30,950,433
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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 chr 4:103,630,907...103,675,073
Ensembl chr 4:103,630,908...103,675,073
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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 chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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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 chr 7:62,889,552...62,892,428
Ensembl chr 7:62,889,552...62,898,388
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Agps |
alkylglycerone phosphate synthase |
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IDA |
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RGD |
PMID:7407223 |
RGD:1598794 |
NCBI chr 3:60,747,323...60,845,831
Ensembl chr 3:60,747,323...60,845,830
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Alb |
albumin |
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ISO |
mRNA,protein:decreased expression:liver,serum: |
RGD |
PMID:1900492 |
RGD:11035284 |
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Epo |
erythropoietin |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:9743294 |
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NCBI chr12:19,204,258...19,207,948
Ensembl chr12:19,204,508...19,207,946
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Ifng |
interferon gamma |
treatment |
ISO |
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RGD |
PMID:2119881 |
RGD:10755752 |
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Kras |
KRAS proto-oncogene, GTPase |
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IAGP |
A to T transversion; Gln to His substitution |
RGD |
PMID:11295286 |
RGD:1598680 |
NCBI chr 4:178,185,418...178,218,484
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Nras |
NRAS proto-oncogene, GTPase |
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IAGP |
DNA:transversion:exon p.Q61L (human) |
RGD |
PMID:11295286 |
RGD:1598680 |
NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626
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Slc6a14 |
solute carrier family 6 member 14 |
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IEP |
mRNA, protein:increased expression:brush border epithelial cell |
RGD |
PMID:17006743 |
RGD:1625275 |
NCBI chr X:112,314,643...112,375,412
Ensembl chr X:112,314,691...112,375,096
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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 chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Nr4a3 |
nuclear receptor subfamily 4, group A, member 3 |
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ISO |
CTD Direct Evidence: marker/mechanism |
OMIM CTD |
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NCBI chr 5:62,361,588...62,401,489
Ensembl chr 5:62,361,822...62,402,733
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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:25741868 PMID:28492532 |
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NCBI chr10:68,272,921...68,304,951
Ensembl chr10:68,272,969...68,304,949
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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 CTD Direct Evidence: marker/mechanism |
OMIM ClinVar CTD |
PMID:1263542 PMID:10973256 PMID:25741868 PMID:28492532 |
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NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041
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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 chr13:55,357,226...55,449,690
Ensembl chr13:55,357,226...55,449,656
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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 chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420
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Rb1 |
RB transcriptional corepressor 1 |
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ISO |
DNA:mutations:promoter, intron, exon:multiple ClinVar Annotator: match by term: Hereditary retinoblastoma |
ClinVar RGD |
PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 PMID:9671401 PMID:10486322 PMID:10617920 PMID:10671068 PMID:11668642 PMID:12541220 PMID:15884040 PMID:16269091 PMID:17096365 PMID:17576681 PMID:18449911 PMID:18677112 PMID:22084214 PMID:25741868 PMID:25754945 PMID:28492532 PMID:17096365 More...
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RGD:8547984 |
NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
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Kras |
KRAS proto-oncogene, GTPase |
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ISO |
mRNA:decreased expression:brain |
RGD |
PMID:19179066 |
RGD:13702872 |
NCBI chr 4:178,185,418...178,218,484
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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 chr 1:202,754,549...202,763,057
Ensembl chr 1:202,754,529...202,764,930
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Med12 |
mediator complex subunit 12 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:25038752 PMID:26437033 |
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NCBI chr X:66,404,807...66,427,775
Ensembl chr X:66,404,760...66,428,387
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Rara |
retinoic acid receptor, alpha |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:26437033 |
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NCBI chr10:83,883,490...83,928,932
Ensembl chr10:83,893,384...83,928,142
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Wnt2 |
Wnt family member 2 |
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ISO |
mRNA:increased expression:breast |
RGD |
PMID:8168088 |
RGD:2291878 |
NCBI chr 4:46,328,408...46,374,673
Ensembl chr 4:46,333,998...46,374,402
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Wnt4 |
Wnt family member 4 |
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ISO |
breast fibroadenoma |
RGD |
PMID:8168088 |
RGD:2291878 |
NCBI chr 5:149,513,573...149,535,415
Ensembl chr 5:149,514,018...149,532,859
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Antxr2 |
ANTXR cell adhesion molecule 2 |
susceptibility |
ISO |
CTD Direct Evidence: marker/mechanism |
CTD RGD |
PMID:12973667 PMID:14508707 PMID:14508707 |
RGD:1599125 |
NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094
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Brf1 |
BRF1, RNA polymerase III transcription initiation factor subunit |
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IMP |
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RGD |
PMID:18456653 |
RGD:9586716 |
NCBI chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278
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Grm1 |
glutamate metabotropic receptor 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:24658000 |
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NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170
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Cdc42 |
cell division cycle 42 |
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ISO |
|
RGD |
PMID:17971488 |
RGD:5688275 |
NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111
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G |
Ddr2 |
discoidin domain receptor tyrosine kinase 2 |
ameliorates |
ISO |
DNA:deletion:exons: |
RGD |
PMID:24293323 |
RGD:150429711 |
NCBI chr13:82,193,623...82,318,229
Ensembl chr13:82,195,463...82,317,363
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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 chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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G |
Ercc6 |
ERCC excision repair 6, chromatin remodeling factor |
susceptibility |
ISO |
|
RGD |
PMID:11238917 |
RGD:11567233 |
NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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G |
Nf1 |
neurofibromin 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:20601955 |
|
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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G |
Serpine1 |
serpin family E member 1 |
severity |
ISO |
|
RGD |
PMID:11059781 |
RGD:8547752 |
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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G |
Tert |
telomerase reverse transcriptase |
treatment |
ISO |
|
RGD |
PMID:19903903 |
RGD:11038656 |
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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G |
Tnfrsf1a |
TNF receptor superfamily member 1A |
|
ISO |
human gene in mouse model |
RGD |
PMID:10753499 |
RGD:5131435 |
NCBI chr 4:158,150,815...158,163,592
Ensembl chr 4:158,150,820...158,163,591
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G |
Mfhas1 |
multifunctional ROCO family signaling regulator 1 |
|
ISO |
|
RGD |
PMID:9973190 |
RGD:1599928 |
NCBI chr16:56,545,462...56,633,649
Ensembl chr16:56,546,207...56,633,743
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G |
Mmp21 |
matrix metallopeptidase 21 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:16984259 |
|
NCBI chr 1:188,480,186...188,485,855
Ensembl chr 1:188,480,186...188,485,855
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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 chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
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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 chr14:31,255,019...31,281,802
Ensembl chr14:31,255,310...31,281,796
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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 chr19:51,952,655...51,982,910
Ensembl chr19:51,952,681...51,982,753
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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 chr13:68,673,702...68,770,846
Ensembl chr13:68,673,722...68,839,742
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G |
Acbd3 |
acyl-CoA binding domain containing 3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic |
ClinVar |
PMID:28492532 |
|
NCBI chr13:92,455,813...92,484,556
Ensembl chr13:92,455,655...92,483,380
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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 chr13:67,726,786...67,863,392
Ensembl chr13:67,726,786...67,862,311
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G |
Ackr1 |
atypical chemokine receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,782,396...85,784,015
Ensembl chr13:85,782,398...85,783,983
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G |
Acp6 |
acid phosphatase 6, lysophosphatidic |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:184,711,975...184,733,067
Ensembl chr 2:184,711,619...184,733,017
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G |
Acta1 |
actin, alpha 1, skeletal muscle |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
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G |
Actn2 |
actinin alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr17:58,143,334...58,210,622
Ensembl chr17:58,142,625...58,210,622
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G |
Adam15 |
ADAM metallopeptidase domain 15 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:174,754,629...174,765,136
Ensembl chr 2:174,754,633...174,765,113
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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 chr13:83,670,556...83,680,045
Ensembl chr13:83,670,183...83,680,065
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G |
Adamtsl4 |
ADAMTS-like 4 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:183,235,634...183,247,091
Ensembl chr 2:183,235,646...183,246,848
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G |
Adar |
adenosine deaminase, RNA-specific |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
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G |
Adcy10 |
adenylate cyclase 10 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:77,747,752...77,833,952
Ensembl chr13:77,768,468...77,833,951
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G |
Adipor1 |
adiponectin receptor 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241
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G |
Adora1 |
adenosine A1 receptor |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
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G |
Adss2 |
adenylosuccinate synthase 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
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G |
Agt |
angiotensinogen |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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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 chr13:91,481,936...91,536,391
Ensembl chr13:91,481,936...91,536,391
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G |
Aida |
axin interactor, dorsalization associated |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:94,940,311...94,967,920
Ensembl chr13:94,939,741...94,967,920
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G |
Aim2 |
absent in melanoma 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,865,206...85,906,996
Ensembl chr13:85,866,284...85,906,975
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G |
Akt3 |
AKT serine/threonine kinase 3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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G |
Aldh9a1 |
aldehyde dehydrogenase 9 family, member A1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:79,505,738...79,522,539
Ensembl chr13:79,505,695...79,540,568
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|
G |
Angel2 |
angel homolog 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:102,509,111...102,529,501
Ensembl chr13:102,510,589...102,529,493
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G |
Angptl1 |
angiopoietin-like 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:68,963,186...68,981,649
Ensembl chr13:68,962,991...68,992,570
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|
G |
Ankrd34a |
ankyrin repeat domain 34A |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:184,129,830...184,135,075
Ensembl chr 2:184,129,238...184,135,116
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|
G |
Ankrd35 |
ankyrin repeat domain 35 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:184,207,076...184,227,063
Ensembl chr 2:184,207,071...184,227,063
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|
G |
Ankrd45 |
ankyrin repeat domain 45 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:73,424,766...73,450,466
Ensembl chr13:73,424,480...73,450,466
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|
G |
Anp32e |
acidic nuclear phosphoprotein 32 family member E |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:183,472,600...183,489,057
Ensembl chr 2:183,472,609...183,489,054
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|
G |
Anxa9 |
annexin A9 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:182,873,185...182,884,501
Ensembl chr 2:182,872,929...182,883,374
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|
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 chr18:25,828,558...25,925,511
Ensembl chr18:25,864,222...25,922,696
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G |
Apcs |
amyloid P component, serum |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:85,373,219...85,374,195
Ensembl chr13:85,373,220...85,374,298
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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 chr 2:183,437,676...183,443,113
Ensembl chr 2:183,438,434...183,441,955
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|
G |
Apoa2 |
apolipoprotein A2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,644,460...83,646,358
Ensembl chr13:83,644,470...83,646,355
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|
G |
Apobec4 |
apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:64,887,019...64,895,053
Ensembl chr13:64,887,012...64,895,053
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|
G |
Aqp10 |
aquaporin 10 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:175,402,609...175,407,677
Ensembl chr 2:175,403,263...175,406,815
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|
G |
Arf1 |
ADP-ribosylation factor 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr10:43,997,983...44,014,461
Ensembl chr10:43,997,986...44,014,434
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|
G |
Arhgap30 |
Rho GTPase activating protein 30 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,822,290...83,843,634
Ensembl chr13:83,822,283...83,854,885
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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 chr 2:173,074,383...173,195,962
Ensembl chr 2:173,074,368...173,196,010
|
|
G |
Arhgef2 |
Rho/Rac guanine nucleotide exchange factor 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355
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G |
Arid4b |
AT-rich interaction domain 4B |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr17:51,138,419...51,262,894
Ensembl chr17:51,138,535...51,262,906
|
|
G |
Arl8a |
ADP-ribosylation factor like GTPase 8A |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:46,585,845...46,594,851
Ensembl chr13:46,585,845...46,594,851
|
|
G |
Arl9 |
ADP-ribosylation factor like GTPase 9 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:1279971 PMID:1720553 PMID:7529964 PMID:15194144 PMID:28492532 |
|
NCBI chr14:31,157,573...31,166,803
Ensembl chr14:31,157,586...31,166,699
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G |
Arnt |
aryl hydrocarbon receptor nuclear translocator |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:182,997,731...183,056,584
Ensembl chr 2:182,997,736...183,056,580
|
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G |
Arpc5 |
actin related protein 2/3 complex, subunit 5 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:64,904,504...64,913,413
Ensembl chr13:64,887,136...64,913,410
|
|
G |
Arv1 |
ARV1 homolog, fatty acid homeostasis modulator |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr19:52,692,337...52,704,156
Ensembl chr19:52,692,337...52,704,156
|
|
G |
Ascl5 |
achaete-scute family bHLH transcription factor 5 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:47,491,799...47,493,269
Ensembl chr13:47,492,026...47,492,592
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G |
Ash1l |
ASH1 like histone lysine methyltransferase |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:174,346,267...174,483,057
Ensembl chr 2:174,346,150...174,483,055
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G |
Aspm |
assembly factor for spindle microtubules |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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|
G |
Astn1 |
astrotactin 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:70,537,423...70,855,440
Ensembl chr13:70,537,703...70,855,440
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G |
Atf3 |
activating transcription factor 3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:102,751,278...102,800,520
Ensembl chr13:102,751,321...102,764,631
|
|
G |
Atf6 |
activating transcription factor 6 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177
|
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G |
Atp1a2 |
ATPase Na+/K+ transporting subunit alpha 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544
|
|
G |
Atp1a4 |
ATPase Na+/K+ transporting subunit alpha 4 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:84,683,766...84,719,790
Ensembl chr13:84,683,768...84,719,687
|
|
G |
Atp1b1 |
ATPase Na+/K+ transporting subunit beta 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459
|
|
G |
Atp2b4 |
ATPase plasma membrane Ca2+ transporting 4 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:45,156,137...45,255,292
Ensembl chr13:45,156,146...45,255,246
|
|
G |
Atp6v1g3 |
ATPase H+ transporting V1 subunit G3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:49,800,256...49,825,247
Ensembl chr13:49,794,222...49,825,247
|
|
G |
Atp8b2 |
ATPase phospholipid transporting 8B2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr 2:175,378,514...175,402,265
Ensembl chr 2:175,378,517...175,401,883
|
|
G |
Avpr1b |
arginine vasopressin receptor 1B |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:43,046,531...43,059,046
Ensembl chr13:43,046,267...43,057,792
|
|
G |
Axdnd1 |
axonemal dynein light chain domain containing 1 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:68,471,957...68,544,788
Ensembl chr13:68,458,411...68,544,172
|
|
G |
B3galnt2 |
beta-1,3-N-acetylgalactosaminyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
|
|
G |
B3galt2 |
Beta-1,3-galactosyltransferase 2 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:55,389,406...55,398,419
Ensembl chr13:55,389,406...55,398,419
|
|
G |
B4galt3 |
beta-1,4-galactosyltransferase 3 |
|
ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
|
NCBI chr13:83,691,378...83,697,448
Ensembl chr13:83,691,446...83,697,448
|
|
G |
B9d1 |
B9 domain containing 1 |
|
ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793025 |
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NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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Bag6 |
BAG cochaperone 6 |
disease_progression |
ISO |
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RGD |
PMID:28197361 |
RGD:14390153 |
NCBI chr20:3,675,938...3,690,414
Ensembl chr20:3,675,938...3,688,657
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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 chr13:102,689,657...102,701,241
Ensembl chr13:102,689,657...102,701,139
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Bcan |
brevican |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460
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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 chr 2:184,760,616...184,846,261
Ensembl chr 2:184,760,618...184,786,435
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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 chr 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495
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G |
Blzf1 |
basic leucine zipper nuclear factor 1 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:76,641,757...76,656,977
Ensembl chr13:76,641,515...76,656,999
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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 chr 2:182,818,593...182,830,421
Ensembl chr 2:182,818,595...182,828,588
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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 chr11:56,122,697...56,198,060
Ensembl chr11:56,122,750...56,198,059
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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 chr 2:183,758,515...183,771,445
Ensembl chr 2:183,758,441...183,781,576
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Bpnt1 |
3'(2'), 5'-bisphosphate nucleotidase 1 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:96,865,634...96,893,506
Ensembl chr13:96,868,580...96,893,503
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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 chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
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G |
Brinp2 |
BMP/retinoic acid inducible neural specific 2 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:70,431,006...70,532,766
Ensembl chr13:70,431,010...70,531,810
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G |
Brinp3 |
BMP/retinoic acid inducible neural specific 3 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770
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G |
Brox |
BRO1 domain and CAAX motif containing |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:94,920,107...94,940,189
Ensembl chr13:94,920,112...94,940,227
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G |
Btg2 |
BTG anti-proliferation factor 2 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:45,531,881...45,535,642
Ensembl chr13:45,531,925...45,535,628
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G |
Btnl10 |
butyrophilin like 10 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr10:43,694,083...43,701,800
Ensembl chr10:43,694,073...43,700,926
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G |
C10h1orf35 |
similar to human chromosome 1 open reading frame 35 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr10:43,993,809...43,997,287
Ensembl chr10:43,993,668...43,997,289
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G |
C13h1orf105 |
similar to human chromosome 1 open reading frame 105 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
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G |
C13h1orf115 |
similar to human chromosome 1 open reading frame 115 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:96,422,308...96,432,044
Ensembl chr13:96,422,302...96,432,068
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G |
C13h1orf116 |
similar to human chromosome 1 open reading frame 116 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,187,442...42,201,432
Ensembl chr13:42,188,609...42,201,426
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G |
C13h1orf21 |
similar to human chromosome 1 open reading frame 21 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:63,982,587...64,199,676
Ensembl chr13:63,990,592...64,199,596
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G |
C13h1orf226 |
similar to human chromosome 1 open reading frame 226 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:82,530,589...82,538,676
Ensembl chr13:82,530,577...82,820,949
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G |
C13h1orf53 |
similar to human chromosome 1 open reading frame 53 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:50,413,785...50,418,974
Ensembl chr13:50,413,785...50,419,120
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G |
C13h1orf74 |
similar to human chromosome 1 open reading frame 74 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:104,692,769...104,695,368
Ensembl chr13:104,692,824...104,695,470
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G |
C19h1orf198 |
similar to human chromosome 1 open reading frame 198 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr19:52,604,060...52,629,436
Ensembl chr19:52,604,060...52,629,436
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G |
C2cd3 |
C2 domain containing 3 centriole elongation regulator |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:27793025 |
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NCBI chr 1:154,715,151...154,812,955
Ensembl chr 1:154,715,310...154,812,520
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G |
C2cd4d |
C2 calcium-dependent domain containing 4D |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr 2:181,999,778...182,001,941
Ensembl chr 2:181,997,078...182,002,087
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G |
C2h1orf54 |
similar to human chromosome 1 open reading frame 54 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr 2:183,424,989...183,434,713
Ensembl chr 2:183,424,984...183,435,089
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G |
C2h1orf56 |
similar to human chromosome 1 open reading frame 56 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr 2:182,814,794...182,818,387
Ensembl chr 2:182,814,793...182,818,512
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G |
C4bpa |
complement component 4 binding protein, alpha |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,075,715...42,111,205
Ensembl chr13:42,075,717...42,111,205
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G |
C4bpb |
complement component 4 binding protein, beta |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:42,120,798...42,131,515
Ensembl chr13:42,120,798...42,131,817
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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 chr13:66,574,659...67,063,443
Ensembl chr13:66,581,920...66,894,450
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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 chr13:47,493,949...47,564,194
Ensembl chr13:47,493,949...47,564,318
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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 chr13:72,437,485...72,447,810
Ensembl chr13:72,437,490...72,450,177
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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 chr13:85,784,785...85,817,412
Ensembl chr13:85,786,483...85,817,749
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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 chr13:104,877,909...104,901,658
Ensembl chr13:104,877,910...104,901,556
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G |
Camsap2 |
calmodulin regulated spectrin-associated protein family, member 2 |
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ISO |
ClinVar Annotator: match by term: Gastrointestinal stromal tumor |
ClinVar |
PMID:28492532 |
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NCBI chr13:47,723,251...47,802,606
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