Connective and Soft Tissue Neoplasms - Ontology Report - Rat Genome Database

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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.

Term:	Connective and Soft Tissue Neoplasms	go back to main search page
Accession:	DOID:9008612	browse the term
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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Rat (2081) Mouse (2261) Human (32734) Chinchilla (1749) Bonobo (1914) Dog (2095) Squirrel (1777) Pig (1875) Green Monkey (1864) Naked Mole-rat (1729) All
Genes (1864)

Abdominal Fibromatosis

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Object Name

Qualifiers

Evidence

Notes

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PubMed Reference(s)

RGD Reference(s)

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G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

adenomatoid tumor

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RGD Reference(s)

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G

TNF receptor associated factor 7

DNA:missense mutations:multiple

NCBI chr 5:2,051,247...2,072,763
Ensembl chr 5:2,059,349...2,071,297

Adult Cerebral Astrocytoma

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RGD Reference(s)

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matrix metallopeptidase 1

susceptibility

DNA:insertion:promoter:g.-1607insG (human)

NCBI chr 1:94,167,507...94,177,357
Ensembl chr 1:94,167,219...94,176,767

adult spinal cord ependymoma

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RGD Reference(s)

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chromodomain helicase DNA binding protein 6

ClinVar Annotator: match by term: Adult spinal cord ependymoma

NCBI chr 2:22,163,836...22,373,098
Ensembl chr 2:22,223,919...22,373,275

Aggressive Fibromatosis

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PubMed Reference(s)

RGD Reference(s)

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G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

G

cellular communication network factor 2

mRNA:increased expression:tumor (human)

NCBI chr13:41,613,838...41,617,010
Ensembl chr13:41,613,798...41,617,651

G

catenin beta 1

ClinVar Annotator: match by term: Aggressive fibromatosis

PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More...

NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949

G

serpin family E member 1

susceptibility

associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human)

NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202

G

tumor necrosis factor

CTD Direct Evidence: therapeutic

AIDS-Related Kaposi Sarcoma

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BCL2 apoptosis regulator

CTD Direct Evidence: marker/mechanism

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

alveolar rhabdomyosarcoma

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forkhead box O1

NCBI chr 3:18,916,849...19,027,776
Ensembl chr 3:18,920,651...19,027,707

G

paired box 3

ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma

PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 More...

NCBI chr10:108,125,198...108,225,217
Ensembl chr10:108,125,747...108,224,478

G

paired box 7

ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2

PMID:25741868 PMID:31092906 PMID:32214227

NCBI chr20:113,810,646...113,929,136
Ensembl chr20:113,823,392...113,928,548

G

tumor protein p73

CTD Direct Evidence: marker/mechanism

NCBI chr20:127,958,002...128,035,792
Ensembl chr20:127,958,809...128,013,691

G

WW domain containing transcription regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr15:41,051,827...41,193,266
Ensembl chr15:41,052,614...41,193,268

alveolar soft part sarcoma

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ASPSCR1 tether for SLC2A4, UBX domain containing

NCBI chr16:73,841,760...73,904,356
Ensembl chr16:73,862,789...73,904,074

ameloblastoma

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B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr21:109,495,525...109,690,261

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709

anaplastic astrocytoma

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ATRX chromatin remodeler

ClinVar Annotator: match by term: Astrocytoma, anaplastic

PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More...

NCBI chr X:66,449,830...66,737,220
Ensembl chr X:66,448,449...66,737,164

G

KRAS proto-oncogene, GTPase

mRNA:decreased expression:brain

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

tumor protein p53

ClinVar Annotator: match by term: Astrocytoma, anaplastic

PMID:1349175 PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 More...

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

anaplastic ependymoma

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partner and localizer of BRCA2

ClinVar Annotator: match by term: Anaplastic ependymoma

PMID:21285249 PMID:25085752 PMID:25741868 PMID:26315354 PMID:26467025 More...

NCBI chr 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198

G

ring finger protein 213

ClinVar Annotator: match by term: Anaplastic ependymoma

NCBI chr16:72,241,519...72,370,710
Ensembl chr16:72,244,245...72,369,859

anaplastic oligodendroglioma

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capicua transcriptional repressor

ClinVar Annotator: match by term: Anaplastic oligodendroglioma

NCBI chr 6:36,472,991...36,500,479

Angiomatoid Fibrous Histiocytoma

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cAMP responsive element binding protein 1

NCBI chr10:93,316,774...93,395,187
Ensembl chr10:93,316,840...93,388,832

angiomyolipoma

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8-oxoguanine DNA glycosylase

no_association

associated with Tuberous Sclerosis;DNA:missense mutations: :p.R45Q, p.A85S, p.R229Q (human)
associated with Tuberous Sclerosis;DNA:SNP: :p.S326C (rs1052133)(human)
associated with Tuberous Sclerosis;mRNA, protein:decreased expression:kidney

PMID:17932460 PMID:19265534

RGD:8657154 RGD:8657155

NCBI chr22:45,757,414...45,763,690

G

phosphatase and tensin homolog

protein:increased expression:kidney (human)

NCBI chr 9:81,308,058...81,412,386
Ensembl chr 9:81,309,099...81,409,146

G

signal transducer and activator of transcription 1

protein:increased serine phosphorylation:kidney

NCBI chr10:76,492,859...76,537,689
Ensembl chr10:76,492,533...76,533,393

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signal transducer and activator of transcription 3

protein:increased tyrosine phosphorylation:kidney

NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984

G

TSC complex subunit 2

associated with Tuberous Sclerosis;protein:decreased expression, increased threonine phosphorylation:kidney

NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682

angiosarcoma

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angiopoietin 2

CTD Direct Evidence: marker/mechanism

NCBI chr 8:6,283,619...6,345,320
Ensembl chr 8:6,280,584...6,344,729

G

cyclin D1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:4,909,616...4,922,272
Ensembl chr 1:4,907,353...4,922,357

G

collagen type XVIII alpha 1 chain

CTD Direct Evidence: marker/mechanism

NCBI chr 2:89,129,674...89,186,490

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr16:66,162,814...66,166,192
Ensembl chr16:66,163,681...66,165,172

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949

G

fms related receptor tyrosine kinase 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:7,412,506...7,608,122
Ensembl chr 3:7,412,172...7,607,967

G

gap junction protein alpha 4

CTD Direct Evidence: marker/mechanism

NCBI chr20:98,092,282...98,095,036
Ensembl chr20:98,092,785...98,093,786

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:343,613...345,782
Ensembl chr 1:343,506...346,637

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Jun proto-oncogene, AP-1 transcription factor subunit

CTD Direct Evidence: marker/mechanism

NCBI chr20:74,204,481...74,207,835
Ensembl chr20:74,205,542...74,206,546

G

potassium calcium-activated channel subfamily N member 4

ameliorates

human cells in mouse model
protein:increased expression:vasculature (human)

NCBI chr 6:37,289,088...37,316,850

G

kinase insert domain receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Angiosarcoma

PMID:8456858 PMID:20147967 PMID:21371307 PMID:24740626 PMID:25157968 More...

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

mediator complex subunit 12

ClinVar Annotator: match by term: Angiosarcoma

NCBI chr X:60,915,796...60,939,220
Ensembl chr X:60,915,703...60,937,677

G

MYC proto-oncogene, bHLH transcription factor

CTD Direct Evidence: marker/mechanism
associated with neoplasms, radiation-induced; DNA:amplification: (human)

PMID:17569031 PMID:26440310

NCBI chr 8:122,282,989...122,288,392
Ensembl chr 8:122,282,630...122,288,384

G

phospholipase C gamma 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:22,599,547...22,638,394

G

protein tyrosine phosphatase receptor type B

CTD Direct Evidence: marker/mechanism
DNA:mutation:multiple (human)
DNA:mutations:multiple (human)

PMID:24633157 PMID:26440310

RGD:151361292 RGD:151665099

NCBI chr11:66,095,445...66,222,402
Ensembl chr11:66,101,038...66,221,982

G

signal transducer and activator of transcription 3

protein:increased phosphorylation:blood vessel

NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984

G

tumor protein p53

CTD Direct Evidence: marker/mechanism
DNA:mutation:multiple (human)

PMID:10626228 PMID:10930038 PMID:13678655 PMID:20737008 PMID:26440310

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr17:28,377,959...28,394,508

G

vascular endothelial growth factor C

CTD Direct Evidence: marker/mechanism

NCBI chr 7:122,772,539...122,893,486
Ensembl chr 7:122,772,182...122,893,512

astroblastoma

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phosphoinositide-3-kinase regulatory subunit 1

severity

PMID:26286747 PMID:26956052

RGD:11343921 RGD:13782052

NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Neuroepithelial neoplasm

PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29987844

NCBI chr11:127,966,879...128,030,442
Ensembl chr11:127,965,896...128,030,292

astroblastoma, MN1-altered

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ATM serine/threonine kinase

ClinVar Annotator: match by term: Astroblastoma, MN1-altered

PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More...

NCBI chr 1:99,653,208...99,786,889
Ensembl chr 1:99,653,139...99,791,520

G

chromosome unknown C11orf65 homolog

ClinVar Annotator: match by term: Astroblastoma, MN1-altered

PMID:17344846 PMID:20305132 PMID:25741868 PMID:25980754 PMID:26206375 More...

NCBI chr 1:99,804,191...99,879,834
Ensembl chr 1:99,804,218...99,827,182

G

TSC complex subunit 2

ClinVar Annotator: match by term: Astroblastoma, MN1-altered

PMID:25741868 PMID:28492532

NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682

atypical teratoid rhabdoid tumor

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ATRX chromatin remodeler

ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor

PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More...

NCBI chr X:66,449,830...66,737,220
Ensembl chr X:66,448,449...66,737,164

G

glypican 3

protein:increased expression:brain (human)

NCBI chr X:108,688,706...109,143,653

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

ClinVar Annotator: match by term: Teratoid tumor, atypical

NCBI chr19:6,902,985...6,945,111
Ensembl chr19:6,902,951...6,944,784

G

tumor protein p53

ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor

PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 More...

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

Avian Sarcoma

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ras homolog family member B

NCBI chr14:87,247,615...87,249,984
Ensembl chr14:87,249,005...87,249,592

bone giant cell tumor

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histone H3.3A

CTD Direct Evidence: marker/mechanism

NCBI chr25:3,696,153...3,704,886

bone osteosarcoma

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AKT serine/threonine kinase 1

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:17611497 PMID:18256540 PMID:18392055 PMID:18504432 PMID:18611285 More...

NCBI chr24:82,704,087...82,730,711
Ensembl chr24:82,704,068...82,727,698

G

ATRX chromatin remodeler

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:7697714 PMID:24690944 PMID:25741868 PMID:28371217 PMID:28492532

NCBI chr X:66,449,830...66,737,220
Ensembl chr X:66,448,449...66,737,164

G

checkpoint kinase 2

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:3313277 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 More...

NCBI chr19:11,567,529...11,621,180
Ensembl chr19:11,567,528...11,604,792

G

EGF containing fibulin extracellular matrix protein 2

exacerbates
disease_progression

mRNA, protein:increased expression:bone tissue (human )
protein:increased expression:bone tissue (human)

PMID:27157136 PMID:28339091

RGD:42722011 RGD:42722013

NCBI chr 1:8,384,212...8,391,501
Ensembl chr 1:8,385,020...8,390,889

G

ERCC excision repair 2, TFIIH core complex helicase subunit

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:19434073 PMID:19470925 PMID:24033266 PMID:24728327 PMID:25741868 More...

NCBI chr 6:38,804,296...38,823,229
Ensembl chr 6:38,801,423...38,823,073

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:1352883 PMID:2594029 PMID:2601691 PMID:7881418 PMID:9311732 More...

NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546

G

tumor protein p53

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 More...

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

TSC complex subunit 2

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:25741868 PMID:26822237

NCBI chr 5:1,946,534...1,985,168
Ensembl chr 5:1,946,927...1,987,682

Bone Tissue Neoplasms

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glutamate metabotropic receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:25,380,855...25,816,945

brain glioblastoma multiforme

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G

eukaryotic translation elongation factor 2

protein:increased expression:brain (human)

NCBI chr 6:3,733,056...3,742,526
Ensembl chr 6:3,732,425...3,742,826

G

neural cell adhesion molecule 1

disease_progression

NCBI chr 1:104,332,622...104,647,258

G

SUFU negative regulator of hedgehog signaling

human, rat, and/or mouse glioma cells in a mouse model

NCBI chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290

brain glioma

term browser

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G

BCL2 associated X, apoptosis regulator

treatment

PMID:27255231 PMID:29324390

RGD:13792502 RGD:13792598

NCBI chr 6:42,186,028...42,193,105

G

BCL2 apoptosis regulator

treatment

PMID:27255231 PMID:29324390

RGD:13792502 RGD:13792598

NCBI chr18:16,440,560...16,643,187
Ensembl chr18:16,441,733...16,637,895

G

baculoviral IAP repeat containing 3

exacerbates

mRNA:increased expression:brain (human)

NCBI chr 1:93,692,239...93,711,905

G

baculoviral IAP repeat containing 5

exacerbates

mRNA:increased expression:brain (human)

NCBI chr16:70,226,824...70,237,000

G

bone marrow stromal cell antigen 2

mRNA,protein:increased expression:brain:

NCBI chr 6:15,900,396...15,903,072
Ensembl chr 6:15,900,011...15,903,060

G

caspase 3

treatment

NCBI chr 7:130,589,592...130,610,845
Ensembl chr 7:130,591,166...130,610,899

G

Fas associated via death domain

treatment

NCBI chr 1:4,358,314...4,361,863

G

Fas ligand

treatment

NCBI chr25:56,488,572...56,496,469
Ensembl chr25:56,489,417...56,496,251

G

forkhead box A1

disease_progression

NCBI chr24:14,397,759...14,403,078
Ensembl chr24:14,396,702...14,403,094

G

glyceraldehyde-3-phosphate dehydrogenase

NCBI chr11:6,569,029...6,572,877

G

kinase insert domain receptor

protein:increased expression:brain (human)

NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771

G

NLR family apoptosis inhibitory protein

exacerbates

mRNA:increased expression:brain (human)

NCBI chr 4:65,693,044...65,742,527

G

protein tyrosine phosphatase receptor type B

protein:increased expression:brain (human)
human cell in mouse model

PMID:16923162 PMID:33900414

RGD:151660356 RGD:151660368

NCBI chr11:66,095,445...66,222,402
Ensembl chr11:66,101,038...66,221,982

G

vascular endothelial growth factor A

protein:increased expression:brain (human)

NCBI chr17:28,377,959...28,394,508

G

X-ray repair cross complementing 1

susceptibility

DNA:SNP:exon 10: p.R399Q (human)

NCBI chr 6:37,062,149...37,095,138
Ensembl chr 6:37,060,439...37,095,094

G

X-ray repair cross complementing 3

susceptibility

DNA:SNP:exon 8: p.T241M (rs861539) (Human)

NCBI chr24:81,627,911...81,641,598
Ensembl chr24:81,630,099...81,641,218

brain stem glioma

term browser

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RGD Reference(s)

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paired box 3

mRNA,protein:increased expression:brain stem:

NCBI chr10:108,125,198...108,225,217
Ensembl chr10:108,125,747...108,224,478

G

platelet derived growth factor receptor alpha

severity

NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422

breast angiosarcoma

term browser

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RGD Reference(s)

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kinase insert domain receptor

DNA:mutation:multiple (human)

NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

DNA:mutation:multiple (human)

NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316

G

protein tyrosine phosphatase receptor type B

DNA:mutation:multiple (human)

NCBI chr11:66,095,445...66,222,402
Ensembl chr11:66,101,038...66,221,982

breast fibroadenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Wnt family member 7B

mRNA:increased expression:tumor:increased in 10% of malignant neoplasms vs normal tissue and fibroadenomas

NCBI chr19:28,387,324...28,444,019
Ensembl chr19:28,385,422...28,441,350

capillary hemangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 3

ClinVar Annotator: match by term: Capillary hemangioma

PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 More...

NCBI chr25:80,509,701...80,878,792
Ensembl chr25:80,515,168...80,816,018

G

cellular communication network factor 1

disease_progression

mRNA:increased expression:skin (human)

NCBI chr20:47,783,270...47,786,216
Ensembl chr20:47,783,935...47,785,997

G

NPC intracellular cholesterol transporter 1

ClinVar Annotator: match by term: Capillary hemangioma

NCBI chr18:56,956,557...57,007,951
Ensembl chr18:56,956,174...57,007,474

carcinosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transforming growth factor beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365

G

vimentin

CTD Direct Evidence: marker/mechanism

NCBI chr 9:17,183,466...17,191,771
Ensembl chr 9:17,183,388...17,191,829

Carney complex

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FAM20A golgi associated secretory pathway pseudokinase

ClinVar Annotator: match by term: Carney complex | ClinVar Annotator: match by term: Carney complex, type 1

PMID:11115848 PMID:19293268 PMID:24170103 PMID:25741868 PMID:28492532

NCBI chr16:52,955,411...53,017,263
Ensembl chr16:52,955,714...53,016,909

G

protein kinase cAMP-dependent type I regulatory subunit alpha

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

PMID:9536098 PMID:10973256 PMID:10974026 PMID:11115848 PMID:12213893 More...

NCBI chr16:53,021,666...53,042,594
Ensembl chr16:53,023,963...53,042,493

Carney Complex Variant

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin-8

ClinVar Annotator: match by term: Carney complex variant

PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More...

NCBI chr16:9,733,585...9,765,740
Ensembl chr16:9,733,717...9,763,255

Carney Triad

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA

PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 More...

NCBI chr 4:163,726...190,145

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA

PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 More...

NCBI chr20:115,537,880...115,571,150
Ensembl chr20:115,538,026...115,571,142

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA

PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 More...

NCBI chr20:2,613,618...2,658,374

Carney-Stratakis syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG9 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:103,126,430...103,222,890
Ensembl chr 1:103,126,436...103,209,042

G

BTG anti-proliferation factor 4

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:102,841,089...102,846,723
Ensembl chr 1:102,828,923...102,832,544
Ensembl chr 1:102,828,923...102,832,544

G

cilia and flagella associated protein 68

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:103,229,236...103,234,073
Ensembl chr 1:103,231,439...103,234,056

G

crystallin alpha B

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:103,258,715...103,263,274
Ensembl chr 1:103,257,347...103,261,990

G

chromosome unknown C11orf52 homolog

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:103,268,896...103,276,550
Ensembl chr 1:103,268,992...103,276,695

G

DIX domain containing 1

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:103,276,780...103,377,110
Ensembl chr 1:103,286,346...103,378,387

G

dihydrolipoamide S-acetyltransferase

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:103,379,165...103,419,585
Ensembl chr 1:103,380,426...103,420,386

G

ferredoxin-fold anticodon binding domain containing 1

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:103,224,186...103,229,456
Ensembl chr 1:103,225,050...103,229,138

G

HOATZ cilia and flagella associated protein

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:102,848,372...102,874,876
Ensembl chr 1:102,848,429...102,875,013

G

heat shock protein family B (small) member 2

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:103,262,807...103,264,150
Ensembl chr 1:103,262,897...103,263,952

G

layilin

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:102,878,396...102,900,814
Ensembl chr 1:102,879,428...102,899,743

G

myelin protein zero

ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor

PMID:12807974 PMID:17468193 PMID:23342407 PMID:25741868 PMID:28492532

NCBI chr20:2,662,163...2,668,393
Ensembl chr20:2,665,737...2,668,393

G

NKAP domain containing 1

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:103,430,898...103,441,717
Ensembl chr 1:103,430,941...103,439,817

G

PIH1 domain containing 2

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:103,423,113...103,430,815
Ensembl chr 1:103,421,117...103,430,727

G

POU class 2 homeobox associating factor 1

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:102,692,305...102,719,066

G

POU class 2 homeobox associating factor 3

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:102,636,070...102,646,059

G

protein phosphatase 2 scaffold subunit Abeta

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:103,058,283...103,110,839
Ensembl chr 1:103,057,915...103,110,102

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor

PMID:9509062 PMID:11404820 PMID:11897817 PMID:12362046 PMID:12364472 More...

NCBI chr20:115,537,880...115,571,150
Ensembl chr20:115,538,026...115,571,142

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor

PMID:9536098 PMID:12658451 PMID:12807974 PMID:17468193 PMID:17576681 More...

NCBI chr20:2,613,618...2,658,374

G

succinate dehydrogenase complex subunit D

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

PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More...

NCBI chr 1:103,443,666...103,452,681

G

salt inducible kinase 2

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:102,944,171...103,070,973
Ensembl chr 1:102,944,281...103,068,823

G

translocase of inner mitochondrial membrane 8 homolog B

ClinVar Annotator: match by term: Carney-Stratakis syndrome

PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 More...

NCBI chr 1:103,441,661...103,443,636
Ensembl chr 1:103,442,144...103,443,611

cavernous sinus meningioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dihydrofolate reductase

ClinVar Annotator: match by term: Cavernous sinus meningioma

PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758

NCBI chr 4:74,787,292...74,811,196
Ensembl chr 4:74,787,629...74,810,960

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Cavernous sinus meningioma

PMID:21671394 PMID:22126750 PMID:28492532

NCBI chr11:45,260,873...45,303,898
Ensembl chr11:45,263,408...45,302,423

G

mutS homolog 3

ClinVar Annotator: match by term: Cavernous sinus meningioma

PMID:25741868 PMID:26467025 PMID:28492532 PMID:31371350 PMID:31627758

NCBI chr 4:74,811,181...75,032,067
Ensembl chr 4:74,811,198...75,032,005

cerebellar angioblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Cerebellar hemangioblastoma

PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 More...

NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428

cerebellar medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mutS homolog 6

ClinVar Annotator: match by term: Cerebellar medulloblastoma

NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174

childhood astrocytic tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

regulator of telomere elongation helicase 1

ameliorates
susceptibility

DNA:SNP:cds:rs6089953|rs6010620|rs2297440 (human)
DNA:SNP:cds:rs4809324 (human)

NCBI chr 2:531,905...567,430
Ensembl chr 2:531,085...566,840

childhood pilocytic astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitogen-activated protein kinase 1

protein:increased expression:brain:

NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325

chondroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

histone H3.3A

CTD Direct Evidence: marker/mechanism

NCBI chr16:45,903,252...45,905,605
Ensembl chr16:45,902,980...45,904,929

chondrodysplasia Blomstrand type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin light chain 3

ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type

NCBI chr22:8,263,536...8,272,229
Ensembl chr22:8,261,206...8,269,185

G

parathyroid hormone 1 receptor

ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type

PMID:3975110 PMID:9268097 PMID:9536098 PMID:9649554 PMID:9745456 More...

NCBI chr22:8,287,877...8,309,736
Ensembl chr22:8,289,398...8,311,256

chondroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

isocitrate dehydrogenase (NADP(+)) 1

CTD Direct Evidence: marker/mechanism

PMID:22057234 PMID:25895133

NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975

G

Indian hedgehog signaling molecule

NCBI chr10:104,960,296...104,966,596
Ensembl chr10:104,960,120...104,966,585

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

PMID:22057234 PMID:25895133

NCBI chr29:8,633,429...8,650,744
Ensembl chr29:8,633,715...8,650,657

G

protein tyrosine phosphatase non-receptor type 11

DNA:deletion, nonsense mutation:exon:c.514_524del11, p.R138X (human)

NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

G

smoothened, frizzled class receptor

treatment

NCBI chr21:97,788,955...97,814,549
Ensembl chr21:97,788,624...97,814,709

chondrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chitinase 3 like 1

mRNA:increased expression:tumor (human)

NCBI chr25:26,160,993...26,169,005
Ensembl chr25:26,160,961...26,169,566

G

collagen type II alpha 1 chain

DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism

NCBI chr11:44,196,213...44,227,718
Ensembl chr11:44,196,094...44,227,468

G

exostosin glycosyltransferase 1

ClinVar Annotator: match by term: Chondrosarcoma | ClinVar Annotator: match by term: Chondrosarcoma, somatic

PMID:7550340 PMID:8981950 PMID:9521425 PMID:10679937 PMID:11170095 More...

NCBI chr 8:112,435,733...112,751,301

G

fibroblast growth factor receptor 3

protein:increased expression:growth plate

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

mechanistic target of rapamycin kinase

disease_progression

NCBI chr20:120,522,667...120,678,988
Ensembl chr20:120,525,737...120,679,020

G

TATA-box binding protein associated factor 15

extraskeletal myxoid chondrosarcomas (EMC)

NCBI chr16:29,284,769...29,322,601
Ensembl chr16:29,284,770...29,322,703

chordoid glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase C alpha

DNA:mutation:cds:c.1387G>C,p.D463H(human)

NCBI chr16:54,638,548...55,144,372
Ensembl chr16:54,642,729...54,948,256

chordoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Chordoma

PMID:186727 PMID:10923033 PMID:11304778 PMID:11873550 PMID:11920621 More...

NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213

G

MN1 proto-oncogene, transcriptional regulator

ClinVar Annotator: match by term: Chordoma

NCBI chr19:10,652,940...10,706,989
Ensembl chr19:10,652,939...10,706,762

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Chordoma

PMID:25085752 PMID:25741868 PMID:26283626 PMID:26315354 PMID:27106063 More...

NCBI chr 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198

G

T-box transcription factor T

CTD Direct Evidence: marker/mechanism

PMID:19801981 PMID:23064415

NCBI chr13:93,854,086...93,864,910
Ensembl chr13:93,855,534...93,864,507

choriocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 8

protein:increased expression:testicular germ cell neoplasms

NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629

G

insulin like growth factor 2

disease_progression

protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR

NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388

G

insulin receptor

disease_progression

protein:increased activity:tumor:IGF-II increased choriocarcinoma cell invasion via activation of INSR

NCBI chr 6:6,625,951...6,803,610
Ensembl chr 6:6,630,777...6,803,592

G

platelet derived growth factor subunit B

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395

G

platelet derived growth factor receptor beta

mRNA:increased expression:mononuclear cytotrophoblast cell

NCBI chr23:52,724,061...52,766,264
Ensembl chr23:52,724,005...52,766,234

G

TIMP metallopeptidase inhibitor 3

DNA, protein:hypermethylation, decreased expression:promoter, placenta

NCBI chr19:15,621,609...15,684,118
Ensembl chr19:15,622,431...15,680,449

chromosome 13q14 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aconitate decarboxylase 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:56,037,628...56,048,509
Ensembl chr 3:56,042,149...56,047,680

G

ALG11 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:29,899,345...29,920,805
Ensembl chr 3:29,899,441...29,915,860

G

ARF like GTPase 11

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:27,544,990...27,550,306
Ensembl chr 3:27,547,359...27,547,949

G

ATPase copper transporting beta

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:29,817,712...29,899,302
Ensembl chr 3:29,816,860...29,899,077

G

BORA aurora kinase A activator

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:51,860,304...51,888,410
Ensembl chr 3:51,860,405...51,887,416

G

calcium binding protein 39 like

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:27,226,012...27,314,413
Ensembl chr 3:27,225,946...27,314,318

G

coiled-coil domain containing 70

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:29,745,345...29,749,711
Ensembl chr 3:29,748,861...29,749,559

G

cytidine and dCMP deaminase domain containing 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:27,165,870...27,212,179
Ensembl chr 3:27,177,026...27,212,171

G

cytoskeleton associated protein 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:30,086,068...30,107,491
Ensembl chr 3:30,086,073...30,107,463

G

CLN5 intracellular trafficking protein

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:56,074,701...56,086,433
Ensembl chr 3:56,076,226...56,086,963

G

chondromodulin

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:30,465,771...30,502,358
Ensembl chr 3:30,466,087...30,501,550

G

COMM domain containing 6

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:54,625,390...54,636,201
Ensembl chr 3:54,623,834...54,636,262

G

chromosome unknown C13orf42 homolog

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:28,960,806...28,991,668

G

cysteinyl leukotriene receptor 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:26,578,248...26,624,364

G

dachshund family transcription factor 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:50,591,136...51,020,042

G

dehydrogenase/reductase 12

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:29,648,522...29,683,177

G

diaphanous related formin 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:37,455,326...37,951,237

G

DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:51,890,033...51,916,628
Ensembl chr 3:51,888,707...51,916,643

G

deleted in lymphocytic leukemia 7

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:28,606,670...28,731,551
Ensembl chr 3:28,710,019...28,731,258

G

EBP like

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:27,576,087...27,606,770
Ensembl chr 3:27,576,329...27,606,684

G

endothelin receptor type B

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:56,969,493...56,993,719
Ensembl chr 3:56,969,101...56,992,731

G

family with sequence similarity 124 member A

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:29,107,009...29,168,154

G

F-box and leucine rich repeat protein 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:56,089,147...56,111,472
Ensembl chr 3:56,088,938...56,105,977

G

fibronectin type III domain containing 3A

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:26,902,353...27,121,248
Ensembl chr 3:26,902,353...27,121,008

G

heterogeneous nuclear ribonucleoprotein A1 like 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:29,547,847...29,549,047
Ensembl chr 3:29,548,013...29,548,972

G

integrator complex subunit 6

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:29,250,059...29,341,933
Ensembl chr 3:29,253,152...29,341,933

G

integral membrane protein 2B

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:26,149,429...26,178,172
Ensembl chr 3:26,149,379...26,177,622

G

potassium channel regulator

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:27,926,469...27,932,895

G

potassium channel tetramerization domain containing 12

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:55,970,438...55,973,640
Ensembl chr 3:55,972,438...55,973,415

G

KLF transcription factor 12

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:52,817,588...53,153,414

G

KLF transcription factor 5

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:52,188,139...52,210,882

G

kelch like family member 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:48,812,816...49,237,894
Ensembl chr 3:48,812,845...49,086,381

G

karyopherin subunit alpha 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:27,615,040...27,711,287
Ensembl chr 3:27,614,983...27,711,358

G

LIM domain 7

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:54,647,783...54,954,970
Ensembl chr 3:54,736,294...54,957,721

G

lysophosphatidic acid receptor 6

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:26,332,770...26,335,289
Ensembl chr 3:26,333,023...26,334,054

G

mediator complex subunit 4

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:25,990,203...26,009,472
Ensembl chr 3:25,990,159...26,009,438

G

motilin receptor

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:27,133,375...27,136,583
Ensembl chr 3:27,134,113...27,136,141

G

MYC binding protein 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:56,128,691...56,412,854
Ensembl chr 3:56,128,428...56,412,923

G

mitotic spindle organizing protein 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:51,840,354...51,860,248
Ensembl chr 3:51,842,167...51,860,164

G

Nedd4 family interacting protein 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:58,534,898...58,606,555
Ensembl chr 3:58,534,973...58,601,812

G

NIMA related kinase 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:30,018,641...30,048,787
Ensembl chr 3:30,018,635...30,045,216

G

NIMA related kinase 5

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:29,950,605...30,015,114
Ensembl chr 3:29,951,153...30,013,658

G

nudix hydrolase 15

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:25,966,148...25,974,143
Ensembl chr 3:25,966,876...25,973,647

G

ORC ubiquitin ligase 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:57,683,989...57,726,851
Ensembl chr 3:57,683,746...57,726,750

G

olfactomedin 4

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:30,753,677...30,810,980
Ensembl chr 3:30,787,999...30,810,980

G

protocadherin 17

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:35,423,998...35,518,776
Ensembl chr 3:35,426,230...35,519,023

G

protocadherin 20

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:39,182,981...39,190,128
Ensembl chr 3:39,185,301...39,189,206

G

protocadherin 8

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:30,602,449...30,610,656
Ensembl chr 3:30,602,321...30,606,926

G

protocadherin 9

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:45,256,171...46,194,724

G

PHD finger protein 11

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:27,414,664...27,448,814
Ensembl chr 3:27,414,361...27,451,009

G

progesterone immunomodulatory binding factor 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:51,916,787...52,153,018

G

POU class 4 homeobox 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:57,667,248...57,673,071

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546

G

RNA binding motif protein 26

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:58,366,214...58,457,989
Ensembl chr 3:58,371,352...58,457,535

G

RCC1 and BTB domain containing protein 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:27,451,687...27,505,866
Ensembl chr 3:27,451,182...27,506,013

G

RCC1 and BTB domain containing protein 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:26,401,787...26,447,315
Ensembl chr 3:26,401,786...26,437,619

G

ribonuclease H2 subunit B

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:28,791,490...28,856,542
Ensembl chr 3:28,791,748...28,841,733

G

sciellin

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:56,473,748...56,733,336
Ensembl chr 3:56,621,817...56,730,830

G

serpin family E member 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:29,227,812...29,251,219
Ensembl chr 3:29,228,049...29,249,397

G

SET domain bifurcated histone lysine methyltransferase 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:27,359,571...27,410,910
Ensembl chr 3:27,360,150...27,411,466

G

SLAIN motif family member 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:56,774,381...56,840,862
Ensembl chr 3:56,774,157...56,839,851

G

SLIT and NTRK like family member 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:62,912,035...62,917,774
Ensembl chr 3:62,914,244...62,916,331

G

SLIT and NTRK like family member 6

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:64,808,716...64,822,519
Ensembl chr 3:64,809,920...64,812,442

G

sprouty RTK signaling antagonist 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:59,357,611...59,362,705
Ensembl chr 3:59,358,394...59,359,341

G

SPRY domain containing 7

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:27,832,306...27,890,996

G

succinate-CoA ligase ADP-forming subunit beta

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:25,889,687...25,951,641

G

SGT1 homolog, MIS12 kinetochore complex assembly cochaperone

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:30,415,371...30,451,337
Ensembl chr 3:30,415,591...30,450,879

G

TBC1 domain family member 4

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:54,384,597...54,588,842
Ensembl chr 3:54,386,342...54,464,531

G

tudor domain containing 3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:38,174,141...38,361,626
Ensembl chr 3:38,174,990...38,361,622

G

thrombospondin type 1 domain containing 1

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:30,152,706...30,180,223
Ensembl chr 3:30,153,364...30,183,302

G

transmembrane protein 272

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

G

tripartite motif containing 13

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:27,851,552...27,925,379
Ensembl chr 3:27,924,150...27,925,373

G

ubiquitin C-terminal hydrolase L3

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

Ensembl chr 3:54,647,590...54,706,497

G

UTP14C small subunit processome component

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:29,912,001...29,920,880
Ensembl chr 3:29,916,080...29,918,395

G

vacuolar protein sorting 36 homolog

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:30,112,245...30,147,976
Ensembl chr 3:30,112,322...30,145,275

G

WD repeat and FYVE domain containing 2

ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome

NCBI chr 3:29,462,390...29,644,021
Ensembl chr 3:29,462,836...29,640,806

CIC-rearranged sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glycoprotein Ib platelet subunit alpha

ClinVar Annotator: match by term: CIC-DUX Sarcoma

PMID:25741868 PMID:28492532

NCBI chr16:4,412,693...4,415,841

G

upstream transcription factor family member 3

ClinVar Annotator: match by term: CIC-rearranged sarcoma

NCBI chr22:67,159,467...67,208,368
Ensembl chr22:67,159,657...67,206,661

clear cell sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL6 corepressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:37,191,242...37,319,966
Ensembl chr X:37,192,874...37,319,782

CLOVES syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein subunit alpha 11

ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi

PMID:25741868 PMID:27476652

NCBI chr 6:2,858,880...2,887,694
Ensembl chr 6:2,858,937...2,887,704

G

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

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

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 More...

NCBI chr15:10,218,034...10,304,874
Ensembl chr15:10,218,805...10,294,316

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: CLOVES syndrome

PMID:25741868 PMID:34040190

NCBI chr 4:64,321,296...64,406,188
Ensembl chr 4:64,321,078...64,406,519

congenital fibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Congenital fibrosarcoma

NCBI chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290

G

tumor protein p53

ClinVar Annotator: match by term: Infantile fibrosarcoma

PMID:1631137 PMID:1978757 PMID:8062826 PMID:8099841 PMID:8425176 More...

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

corpus callosum lipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proprotein convertase subtilisin/kexin type 7

ClinVar Annotator: match by term: Corpus callosum lipoma

NCBI chr 1:108,576,065...108,603,180
Ensembl chr 1:108,576,998...108,601,130

cutaneous mastocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Cutaneous mastocytosis

PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 More...

NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976

G

KIT ligand

CTD Direct Evidence: marker/mechanism

NCBI chr11:83,856,149...83,943,095
Ensembl chr11:83,856,157...83,943,083

dermatofibrosarcoma protuberans

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type I alpha 1 chain

DNA:gene fusion:exon
associated with Severe combined immunodeficiency due to adenosine deaminase deficiency;DNA:gene fusion

PMID:12641779 PMID:22153773

RGD:2292195 RGD:5688300

NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930

G

platelet derived growth factor subunit B

ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans

PMID:25741868 PMID:28492532

NCBI chr19:21,865,792...21,888,068
Ensembl chr19:21,863,768...21,886,395

dermoid cyst of ovary

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box O3

OMIM:166950

NCBI chr13:65,175,764...65,303,107
Ensembl chr13:65,195,376...65,301,725

desmoid tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Desmoid tumor

PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 More...

NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

G

catenin beta 1

ClinVar Annotator: match by term: Desmoid tumor

PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More...

NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949

desmoplastic small round cell tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TNF receptor superfamily member 17

ClinVar Annotator: match by term: Desmoplastic small round cell tumor

NCBI chr 5:11,435,306...11,438,573
Ensembl chr 5:11,435,842...11,438,351

desmoplastic/nodular medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

actin related protein 1A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:95,507,685...95,531,015
Ensembl chr 9:95,506,675...95,530,984

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr11:41,933,650...42,117,495
Ensembl chr11:42,028,083...42,118,892

G

ARF like GTPase 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:95,703,648...95,737,785

G

arsenite methyltransferase

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:95,911,465...95,939,554
Ensembl chr 9:95,912,086...95,939,375

G

ATP synthase membrane subunit k

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:96,432,664...96,442,110
Ensembl chr 9:96,432,668...96,442,067

G

BLOC-1 related complex subunit 7

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:95,895,775...95,906,861
Ensembl chr 9:95,895,551...95,905,320

G

calcium homeostasis modulator 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:96,500,716...96,507,439
Ensembl chr 9:96,502,577...96,506,072

G

calcium homeostasis modulator family member 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:96,493,807...96,499,892
Ensembl chr 9:96,493,488...96,499,358

G

calcium homeostasis modulator 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:96,520,508...96,543,924
Ensembl chr 9:96,520,912...96,527,841

G

cilia and flagella associated protein 43

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:97,179,767...97,283,267
Ensembl chr 9:97,179,647...97,283,225

G

cilia and flagella associated protein 58

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:97,400,284...97,510,489
Ensembl chr 9:97,409,380...97,510,661

G

cyclin and CBS domain divalent metal cation transport mediator 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:95,956,224...96,130,714
Ensembl chr 9:95,955,654...96,122,976

G

collagen type XVII alpha 1 chain

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:97,079,444...97,136,878
Ensembl chr 9:97,080,191...97,135,545

G

CCCTC-binding factor

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 5:59,806,753...59,889,534
Ensembl chr 5:59,806,551...59,880,049

G

chromosome unknown C10orf95 homolog

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:95,479,426...95,481,662

G

cytochrome P450 family 17 subfamily A member 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:95,870,098...95,877,345
Ensembl chr 9:95,866,908...95,877,180

G

glutathione S-transferase omega 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:97,305,094...97,317,892

G

glutathione S-transferase omega 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:97,319,695...97,348,406
Ensembl chr 9:97,325,215...97,349,422

G

internexin neuronal intermediate filament protein alpha

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:96,325,122...96,338,057
Ensembl chr 9:96,325,180...96,336,358

G

inositol 1,4,5-trisphosphate receptor interacting protein

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:97,362,766...97,384,115

G

major facilitator superfamily domain containing 13A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:95,490,196...95,504,569
Ensembl chr 9:95,497,252...95,504,434

G

neuralized E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:96,542,046...96,641,912
Ensembl chr 9:96,542,473...96,639,761

G

5'-nucleotidase, cytosolic II

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:96,133,873...96,325,122
Ensembl chr 9:96,135,400...96,219,956

G

polycomb group ring finger 6

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:96,349,418...96,396,083
Ensembl chr 9:96,349,423...96,395,650

G

programmed cell death 11

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:96,442,214...96,493,320
Ensembl chr 9:96,442,237...96,493,318

G

SWI5 dependent homologous recombination repair protein 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:97,171,948...97,176,232
Ensembl chr 9:97,172,037...97,176,369

G

sideroflexin 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:95,752,621...95,775,639
Ensembl chr 9:95,762,074...95,776,073

G

SH3 and PX domains 2A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:96,645,955...96,898,749

G

STE20 like kinase

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:97,016,085...97,077,133
Ensembl chr 9:97,016,184...97,077,138

G

sortilin related VPS10 domain containing receptor 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:97,688,826...98,299,715
Ensembl chr 9:97,883,836...98,299,712

G

STN1 subunit of CST complex

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:96,919,584...96,967,941
Ensembl chr 9:96,915,951...96,967,394

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:95,532,228...95,660,594
Ensembl chr 9:95,532,242...95,657,290

G

TATA-box binding protein associated factor 5

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:96,411,690...96,432,668

G

tripartite motif containing 8

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:95,671,622...95,686,701
Ensembl chr 9:95,672,648...95,689,247

G

WW domain binding protein 1 like

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 9:95,780,039...95,855,013
Ensembl chr 9:95,811,108...95,855,426

diaphyseal medullary stenosis with malignant fibrous histiocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

methylthioadenosine phosphorylase

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

PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 More...

NCBI chr15:84,196,548...84,198,357
Ensembl chr12:57,997,427...58,050,241

diffuse cutaneous mastocytosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: MASTOCYTOSIS, DIFFUSE CUTANEOUS

PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More...

NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976

diffuse intrinsic pontine glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 interacting DNA helicase 1

ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma

PMID:16116424 PMID:16116426 PMID:16973432 PMID:18510924 PMID:19099189 More...

NCBI chr16:32,909,226...33,085,551
Ensembl chr16:32,910,693...33,082,587

G

neurofibromin 1

ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma

PMID:25741868 PMID:28492532

NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307

diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALK receptor tyrosine kinase

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:25741868 PMID:28492532

NCBI chr14:77,632,809...78,408,307

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 3:11,070,086...11,155,257
Ensembl chr 3:11,071,682...11,155,213

G

cyclin dependent kinase 4

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:25741868 PMID:28492532

NCBI chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861

G

FA complementation group A

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

NCBI chr 5:75,073,161...75,149,110
Ensembl chr 5:75,073,358...75,148,591

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:25741868 PMID:28492532

NCBI chr27:46,958,444...46,974,032
Ensembl chr27:46,957,254...46,973,392

G

isocitrate dehydrogenase (NADP(+)) 1

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

NCBI chr10:94,021,002...94,039,997
Ensembl chr10:94,020,818...94,039,975

G

lysine demethylase 5B

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

NCBI chr25:26,599,740...26,685,256
Ensembl chr25:26,600,736...26,683,632

G

mismatch repair endonuclease PMS2

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:23435383 PMID:25741868 PMID:28492532 PMID:35451539

NCBI chr28:15,174,359...15,209,962
Ensembl chr28:15,172,100...15,209,852

G

neurofibromin 1

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:25741868 PMID:26740943 PMID:28492532 PMID:31882575

NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

NCBI chr 5:21,322,952...21,358,363
Ensembl chr 5:21,322,975...21,358,198

G

ret proto-oncogene

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:22648184 PMID:25741868 PMID:28492532 PMID:28946813 PMID:31159747 More...

NCBI chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:25741868 PMID:28492532

NCBI chr 4:163,726...190,145

G

tumor protein p53

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 More...

NCBI chr16:7,047,686...7,065,567
Ensembl chr16:7,045,146...7,066,223

G

tetraspanin 31

ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

PMID:25741868 PMID:28492532

NCBI chr11:53,658,532...53,661,159
Ensembl chr11:53,658,802...53,660,951

dysembryoplastic neuroepithelial tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

DNA:mutation:cds:p.V600E(human)

NCBI chr21:109,495,525...109,690,261

embryonal rhabdomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr20:105,981,549...106,066,093
Ensembl chr20:105,981,290...106,065,672

G

BCL6 corepressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:37,191,242...37,319,966
Ensembl chr X:37,192,874...37,319,782

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr26:42,769,955...42,855,353
Ensembl chr26:42,792,830...42,855,306

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:29,543,003...32,218,011

G

myoblast determination protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:47,250,927...47,254,572
Ensembl chr 1:47,251,551...47,253,284

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

PMID:26619011 PMID:26822237

NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr22:8,421,178...8,567,221
Ensembl chr22:8,420,960...8,567,201

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

PMID:25741868 PMID:28492532 PMID:33528079 PMID:35430768

NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:93,479,478...93,605,340
Ensembl chr 1:93,479,135...93,606,808

Embryonal Rhabdomyosarcoma 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 22 member 18

NCBI chr 1:2,712,792...2,737,874
Ensembl chr 1:2,715,027...2,737,872

Embryonal Rhabdomyosarcoma 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2

PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:23728841 More...

NCBI chr24:72,915,550...72,986,658
Ensembl chr24:72,915,499...72,963,006

endodermal sinus tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alpha fetoprotein

protein:increased expression:serum

NCBI chr 7:21,904,225...21,924,105
Ensembl chr 7:21,905,154...21,924,092

G

catenin beta 1

mRNA, protein:increased expression, increased activity:tumor:high expression in 100%, increased nuclear accumulation in 50-70% of tumors

NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949

G

fibroblast growth factor 8

protein:increased expression:testicular germ cell neoplasms

NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629

G

spalt like transcription factor 4

protein:increased expression:testis, nucleus (human)

NCBI chr 2:12,179,721...12,199,629
Ensembl chr 2:12,182,357...12,199,321

G

TNF superfamily member 8

CTD Direct Evidence: marker/mechanism

NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466

G

Wnt family member 2B

mRNA:increased expression:tumor

NCBI chr20:21,116,310...21,129,461
Ensembl chr20:21,117,415...21,123,516

endometrial stromal sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

protein:increased expression:tumor:increased in 6/8 (75%) of tumors

NCBI chr 7:13,808,104...13,891,003
Ensembl chr 7:13,808,037...13,890,976

Ependymomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BAF chromatin remodeling complex subunit BCL7C

CTD Direct Evidence: marker/mechanism

NCBI chr 5:27,518,716...27,577,695
Ensembl chr 5:27,570,726...27,577,538

G

EPH receptor B2

CTD Direct Evidence: marker/mechanism

NCBI chr20:109,747,883...109,954,936
Ensembl chr20:109,746,925...109,890,777

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 4:36,662,033...36,691,761
Ensembl chr 4:36,665,009...36,684,257

G

insulin like growth factor 2

mRNA:increased expression:cerebellum

NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388

G

RAB3A, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr 6:16,671,388...16,678,780
Ensembl chr 6:16,670,431...16,678,644

G

retbindin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:11,508,417...11,524,011

G

SHC adaptor protein 3

DNA:amplification:brain:

NCBI chr12:99,503,936...99,672,438
Ensembl chr12:99,506,647...99,669,792

G

zinc finger protein 668

CTD Direct Evidence: marker/mechanism

NCBI chr 5:27,749,292...27,761,905
Ensembl chr 5:27,749,164...27,752,954

Epithelioid Leiomyoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type IV alpha 5 chain

CTD Direct Evidence: marker/mechanism

NCBI chr X:96,307,927...96,570,592

G

collagen type IV alpha 6 chain

CTD Direct Evidence: marker/mechanism

NCBI chr X:96,012,442...96,307,911

epithelioid sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

SWI/SNF related BAF chromatin remodeling complex subunit B1

protein:decreased expression:epithelial cell:

NCBI chr19:6,902,985...6,945,111
Ensembl chr19:6,902,951...6,944,784

Ewing sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated deubiquitinase 1

ClinVar Annotator: match by term: Ewing sarcoma

PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532

NCBI chr22:13,765,510...13,774,866
Ensembl chr22:13,764,686...13,774,740

G

cyclin dependent kinase 4

ClinVar Annotator: match by term: Ewing sarcoma

PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 More...

NCBI chr11:53,661,877...53,665,688
Ensembl chr11:53,659,336...53,664,861

G

CDKN1A interacting zinc finger protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr12:9,939,984...9,961,913
Ensembl chr12:9,940,696...9,962,235

G

early growth response 2

CTD Direct Evidence: marker/mechanism

NCBI chr 9:68,472,640...68,479,612
Ensembl chr 9:68,475,102...68,479,595

G

EWS RNA binding protein 1

ClinVar Annotator: match by term: Ewing sarcoma

PMID:25741868 PMID:28492532

NCBI chr19:12,138,279...12,169,771

G

Fli-1 proto-oncogene, ETS transcription factor

CTD Direct Evidence: marker/mechanism

PMID:11772151 PMID:16646077 PMID:26214589

NCBI chr 1:119,817,987...119,945,378
Ensembl chr 1:119,827,222...119,946,662

G

lysine demethylase 3A

mRNA:increased expression:bone marrow (human)

NCBI chr14:20,668,215...20,721,854
Ensembl chr14:20,668,821...20,720,759

G

neurofibromin 1

ClinVar Annotator: match by term: Ewing sarcoma | ClinVar Annotator: match by term: Ewing tumor

PMID:7607663 PMID:9385374 PMID:9463322 PMID:10494088 PMID:10607834 More...

NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307

G

tetraspanin 31

ClinVar Annotator: match by term: Ewing sarcoma

PMID:24755471 PMID:25318351 PMID:25741868 PMID:26252490 PMID:26467025 More...

NCBI chr11:53,658,532...53,661,159
Ensembl chr11:53,658,802...53,660,951

Experimental Sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

alkylglycerone phosphate synthase

NCBI chr10:62,943,914...63,101,644
Ensembl chr10:62,946,695...63,096,044

G

albumin

mRNA,protein:decreased expression:liver,serum:

NCBI chr 7:21,872,036...21,890,095
Ensembl chr 7:21,876,132...21,891,407

G

erythropoietin

CTD Direct Evidence: therapeutic

NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908

G

interferon gamma

treatment

NCBI chr11:63,785,493...63,791,071
Ensembl chr11:63,786,041...63,790,473

G

KRAS proto-oncogene, GTPase

A to T transversion; Gln to His substitution

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

G

NRAS proto-oncogene, GTPase

DNA:transversion:exon p.Q61L (human)

NCBI chr20:18,953,273...18,966,002
Ensembl chr20:18,953,883...18,961,931

G

solute carrier family 6 member 14

mRNA, protein:increased expression:brush border epithelial cell

extraosseous Ewing sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ret proto-oncogene

ClinVar Annotator: match by term: Ewing sarcoma of soft tissue

PMID:24336963 PMID:24429398 PMID:24755471 PMID:25256751 PMID:25741868 More...

NCBI chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712

extraskeletal myxoid chondrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

nuclear receptor subfamily 4 group A member 3

NCBI chr12:39,568,085...39,611,704
Ensembl chr12:39,567,852...39,606,837

G

TATA-box binding protein associated factor 15

ClinVar Annotator: match by term: TAF15-related condition

PMID:25741868 PMID:28492532

NCBI chr16:29,284,769...29,322,601
Ensembl chr16:29,284,770...29,322,703

Familial Atrial Myxoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase cAMP-dependent type I regulatory subunit alpha

ClinVar Annotator: match by term: Familial atrial myxoma

PMID:1263542 PMID:10973256 PMID:25741868 PMID:28492532

NCBI chr16:53,021,666...53,042,594
Ensembl chr16:53,023,963...53,042,493

Familial Cystic Parathyroid Adenomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 73

ClinVar Annotator: match by term: Cystic parathyroid adenoma

NCBI chr25:36,167,482...36,302,918
Ensembl chr25:36,170,134...36,302,812

familial glomangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

glomulin, FKBP associated protein

ClinVar Annotator: match by term: Familial glomangioma

PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More...

NCBI chr20:40,950,948...41,007,120
Ensembl chr20:40,951,342...41,008,791

familial retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Hereditary retinoblastoma

PMID:7881418 PMID:8346255 PMID:8605116 PMID:8651278 PMID:9536098 More...

NCBI chr 3:26,220,783...26,393,671
Ensembl chr 3:26,220,803...26,394,546

fibrillary astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

mRNA:decreased expression:brain

NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191

Fibroadenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

FOS like 1, AP-1 transcription factor subunit

mRNA, protein:increased expression:breast

NCBI chr 1:8,356,263...8,365,606
Ensembl chr 1:8,356,836...8,364,918

G

mediator complex subunit 12

CTD Direct Evidence: marker/mechanism

PMID:25038752 PMID:26437033

NCBI chr X:60,915,796...60,939,220
Ensembl chr X:60,915,703...60,937,677

G

retinoic acid receptor alpha

CTD Direct Evidence: marker/mechanism

NCBI chr16:65,817,849...65,866,862
Ensembl chr16:65,817,757...65,866,878

G

Wnt family member 2

mRNA:increased expression:breast

NCBI chr21:85,955,517...86,005,664
Ensembl chr21:85,955,145...86,001,730

G

Wnt family member 4

breast fibroadenoma; mRNA:increased expression:tumor:increased vs normal and malignant breast tissue (p=0.001)

NCBI chr20:110,517,391...110,543,802
Ensembl chr20:110,517,564...110,541,203

fibroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANTXR cell adhesion molecule 2

susceptibility

CTD Direct Evidence: marker/mechanism

PMID:12973667 PMID:14508707

NCBI chr 7:28,345,849...28,499,818
Ensembl chr 7:28,375,899...28,499,522

G

BRF1 general transcription factor IIIB subunit

NCBI chr24:83,117,823...83,192,435
Ensembl chr24:83,117,685...83,192,431

G

glutamate metabotropic receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr13:25,380,855...25,816,945

fibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 42

NCBI chr20:110,568,004...110,608,318
Ensembl chr20:110,569,352...110,582,562

G

discoidin domain receptor tyrosine kinase 2

ameliorates

DNA:deletion:exons:

NCBI chr20:1,298,636...1,451,872
Ensembl chr20:1,299,574...1,359,674

G

early growth response 1

human tumor line expressing mouse gene in mouse model

NCBI chr23:41,139,636...41,143,598
Ensembl chr23:41,140,065...41,142,374

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307

G

serpin family E member 1

severity

NCBI chr28:12,047,520...12,060,662
Ensembl chr28:12,047,529...12,060,202

G

telomerase reverse transcriptase

treatment

NCBI chr 4:1,082,894...1,119,373
Ensembl chr 4:1,083,384...1,117,468

G

TNF receptor superfamily member 1A

human gene in mouse model

NCBI chr11:6,364,544...6,378,880
Ensembl chr11:6,364,330...6,378,902

fibrous histiocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

multifunctional ROCO family signaling regulator 1

NCBI chr 8:10,158,951...10,268,286
Ensembl chr 8:10,159,421...10,268,323

G

matrix metallopeptidase 21

CTD Direct Evidence: marker/mechanism

NCBI chr 9:118,387,926...118,400,048
Ensembl chr 9:118,389,666...118,398,807

follicular dendritic cell sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

signal transducer and activator of transcription 3

ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma

PMID:24797340 PMID:25586472 PMID:25741868 PMID:28356514 PMID:28492532 More...

NCBI chr16:63,877,884...63,957,894
Ensembl chr16:63,922,862...63,957,984

gastrointestinal stromal tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminoadipate-semialdehyde dehydrogenase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

PMID:1279971 PMID:1720553 PMID:7529964 PMID:15194144 PMID:28492532

NCBI chr 7:12,248,193...12,292,027
Ensembl chr 7:12,249,208...12,296,516

G

ATP binding cassette subfamily B member 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:66,786,618...66,829,118
Ensembl chr25:66,786,484...66,828,916

G

ABL proto-oncogene 2, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:50,106,621...50,244,002
Ensembl chr25:50,216,483...50,241,621

G

acyl-CoA binding domain containing 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:3,585,619...3,630,711
Ensembl chr25:3,585,625...3,628,789

G

acyl-CoA binding domain containing 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:48,884,818...49,089,557
Ensembl chr25:48,885,434...49,090,615

G

atypical chemokine receptor 1 (Duffy blood group)

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:4,742,326...4,746,615

G

acid phosphatase 6, lysophosphatidic

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

actin alpha 1, skeletal muscle

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:66,700,448...66,703,325
Ensembl chr25:66,700,369...66,714,891

G

actinin alpha 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:73,827,900...73,904,516
Ensembl chr25:73,827,874...73,905,146

G

ADAM metallopeptidase domain 15

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:8,767,836...8,779,399
Ensembl chr20:8,768,112...8,779,311

G

ADAM metallopeptidase with thrombospondin type 1 motif 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:2,781,184...2,791,464
Ensembl chr20:2,783,855...2,792,170

G

ADAMTS like 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

adenosine deaminase RNA specific

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:9,194,611...9,241,102
Ensembl chr20:9,219,937...9,241,329

G

adenylate cyclase 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:61,129,837...61,228,180
Ensembl chr25:61,140,293...61,230,117

G

adiponectin receptor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:26,445,993...26,462,346
Ensembl chr25:26,453,242...26,462,549

G

adenosine A1 receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:26,180,898...26,221,424
Ensembl chr25:26,182,446...26,220,776

G

adenylosuccinate synthase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:81,441,792...81,485,344
Ensembl chr25:81,442,787...81,485,292

G

angiotensinogen

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324

G

AT-hook containing transcription factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:83,889,934...83,978,965
Ensembl chr25:83,892,508...83,978,935

G

axin interactor, dorsalization associated

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:6,858,138...6,900,064
Ensembl chr25:6,858,152...6,898,175

G

absent in melanoma 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:4,759,746...4,884,460
Ensembl chr20:4,873,008...4,884,764

G

AKT serine/threonine kinase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:80,509,701...80,878,792
Ensembl chr25:80,515,168...80,816,018

G

aldehyde dehydrogenase 9 family member A1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:63,184,220...63,223,865

G

angel homolog 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:16,539,560...16,565,986
Ensembl chr25:16,539,770...16,560,574

G

angiopoietin like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:50,468,283...50,489,283
Ensembl chr25:50,468,826...50,490,343

G

ankyrin repeat domain 34A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:12,786,058...12,789,260
Ensembl chr20:12,786,933...12,788,423

G

ankyrin repeat domain 35

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:12,858,983...12,877,983
Ensembl chr20:12,859,767...12,877,977

G

ankyrin repeat domain 45

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:55,525,068...55,584,488
Ensembl chr25:55,535,206...55,588,422

G

acidic nuclear phosphoprotein 32 family member E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

annexin A9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine

PMID:25741868 PMID:26530882 PMID:28492532

NCBI chr23:15,992,437...16,135,117
Ensembl chr23:16,042,287...16,137,067

G

amyloid P component, serum

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:4,360,955...4,363,810
Ensembl chr20:4,358,654...4,362,095

G

aph-1 homolog A, gamma-secretase subunit

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

apolipoprotein A2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:2,757,939...2,760,356
Ensembl chr20:2,759,237...2,760,686

G

apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:45,711,492...45,721,195
Ensembl chr25:45,718,701...45,719,792

G

aquaporin 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:9,489,562...9,506,229
Ensembl chr20:9,492,846...9,496,367

G

ARF GTPase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:1,628,836...1,644,502
Ensembl chr25:1,628,751...1,644,499

G

Rho GTPase activating protein 30

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:2,922,593...2,942,563
Ensembl chr20:2,922,935...2,941,817

G

Rho guanine nucleotide exchange factor 11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:6,825,331...6,935,110
Ensembl chr20:6,883,815...6,933,961

G

Rho/Rac guanine nucleotide exchange factor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:7,884,220...7,927,738
Ensembl chr20:7,905,662...7,930,657

G

AT-rich interaction domain 4B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:72,338,190...72,501,999
Ensembl chr25:72,337,590...72,501,988

G

ARF like GTPase 8A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:27,261,506...27,272,477
Ensembl chr25:27,261,562...27,271,416

G

ARF like GTPase 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

PMID:1279971 PMID:1720553 PMID:7529964 PMID:15194144 PMID:28492532

NCBI chr 7:12,105,750...12,124,457

G

aryl hydrocarbon receptor nuclear translocator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

actin related protein 2/3 complex subunit 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:45,731,049...45,740,533
Ensembl chr25:45,731,326...45,739,508

G

ARV1 homolog, fatty acid homeostasis modulator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:68,251,110...68,271,530
Ensembl chr25:68,251,130...68,271,607

G

achaete-scute family bHLH transcription factor 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:28,274,562...28,287,783
Ensembl chr25:28,286,370...28,286,987

G

ASH1 like histone lysine methyltransferase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:8,290,606...8,499,991
Ensembl chr20:8,322,504...8,500,129

G

assembly factor for spindle microtubules

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:32,269,518...32,334,617
Ensembl chr25:32,281,424...32,334,977

G

astrotactin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:52,110,983...52,416,743
Ensembl chr25:52,110,880...52,413,554

G

activating transcription factor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:16,910,312...16,922,598

G

activating transcription factor 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:2,112,819...2,304,063
Ensembl chr20:2,117,982...2,304,027

G

ATPase Na+/K+ transporting subunit alpha 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:3,801,044...3,828,680
Ensembl chr20:3,802,887...3,828,692

G

ATPase Na+/K+ transporting subunit alpha 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:3,759,509...3,794,106
Ensembl chr20:3,759,597...3,793,980

G

ATPase Na+/K+ transporting subunit beta 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:59,898,745...59,925,166
Ensembl chr25:59,895,341...59,925,522

G

ATPase plasma membrane Ca2+ transporting 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:25,602,857...25,716,385
Ensembl chr25:25,602,715...25,661,553

G

ATPase H+ transporting V1 subunit G3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:30,867,341...30,886,380
Ensembl chr25:30,868,161...30,886,540

G

ATPase phospholipid transporting 8B2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:9,466,397...9,491,705
Ensembl chr20:9,465,851...9,489,564

G

arginine vasopressin receptor 1B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:23,234,651...23,244,403
Ensembl chr25:23,234,823...23,241,159

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:49,807,102...49,988,152

G

beta-1,3-N-acetylgalactosaminyltransferase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:72,614,998...72,677,383
Ensembl chr25:72,611,475...72,677,356

G

beta-1,3-galactosyltransferase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:36,234,882...36,246,827
Ensembl chr25:36,241,631...36,242,899

G

beta-1,4-galactosyltransferase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:2,807,510...2,814,480
Ensembl chr20:2,807,895...2,814,476

G

B9 domain containing 1

CTD Direct Evidence: marker/mechanism

NCBI chr16:17,925,741...17,945,879
Ensembl chr16:17,925,134...17,945,878

G

BAG cochaperone 6

disease_progression

G

basic leucine zipper ATF-like transcription factor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:16,832,733...16,848,835
Ensembl chr25:16,834,957...16,848,510

G

brevican

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:7,203,546...7,221,108
Ensembl chr20:7,203,378...7,220,973

G

BCL9 transcription coactivator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

bone gamma-carboxyglutamate protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:7,623,716...7,626,353
Ensembl chr20:7,623,883...7,624,812

G

basic leucine zipper nuclear factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:59,665,035...59,685,304
Ensembl chr25:59,664,280...59,685,376

G

BCL2 interacting protein like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

BOC cell adhesion associated, oncogene regulated

CTD Direct Evidence: marker/mechanism

NCBI chr22:67,552,105...67,635,557
Ensembl chr22:67,559,150...67,635,175

G

bolA family member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

3'(2'), 5'-bisphosphate nucleotidase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:9,489,479...9,518,936
Ensembl chr25:9,490,763...9,519,721

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma
ClinVar Annotator: match by term: Gastrointestinal stromal tumor

PMID:12068308 PMID:12198537 PMID:12447372 PMID:12460918 PMID:12460919 More...

NCBI chr21:109,495,525...109,690,261

G

BMP/retinoic acid inducible neural specific 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:51,993,095...52,114,569
Ensembl chr25:51,993,135...52,105,212

G

BMP/retinoic acid inducible neural specific 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:38,950,219...39,340,920
Ensembl chr25:39,147,423...39,340,564

G

BRO1 domain and CAAX motif containing

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:6,835,448...6,858,097
Ensembl chr25:6,834,584...6,858,052

G

BTG anti-proliferation factor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:26,032,404...26,036,500
Ensembl chr25:26,034,632...26,036,538

G

Butyrophilin-like protein 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:1,185,693...1,189,294

G

C2 domain containing 3 centriole elongation regulator

CTD Direct Evidence: marker/mechanism

NCBI chr 1:65,282,311...65,436,007
Ensembl chr 1:65,282,318...65,435,834

G

C2 calcium dependent domain containing 4D

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:11,846,708...11,847,963
Ensembl chr20:11,846,792...11,847,853

G

complement component 4 binding protein alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:22,169,355...22,254,331

G

complement component 4 binding protein beta

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:22,258,540...22,270,316
Ensembl chr25:22,258,559...22,269,110

G

carbonic anhydrase 14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

calcium voltage-gated channel subunit alpha1 E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:47,589,859...47,924,081
Ensembl chr25:47,597,808...47,922,969

G

calcium voltage-gated channel subunit alpha1 S

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:28,288,483...28,363,231
Ensembl chr25:28,289,342...28,363,327

G

calcyclin binding protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:54,246,331...54,258,273
Ensembl chr25:54,247,057...54,257,660

G

cell adhesion molecule 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:4,746,751...4,777,321
Ensembl chr20:4,747,800...4,777,298

G

calcium/calmodulin dependent protein kinase IG

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:19,847,618...19,879,376
Ensembl chr25:19,848,690...19,877,875

G

calmodulin regulated spectrin associated protein family member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:28,542,480...28,659,197
Ensembl chr25:28,542,143...28,659,060

G

calpain 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:5,845,873...5,905,464
Ensembl chr25:5,846,298...5,905,402

G

calpain 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:5,936,582...6,030,929

G

calpain 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:68,018,785...68,072,299
Ensembl chr25:68,019,375...68,072,123

G

calsequestrin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:3,744,921...3,759,220
Ensembl chr20:3,744,780...3,756,435

G

catsper channel auxiliary subunit epsilon

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:81,495,617...81,656,357
Ensembl chr25:81,495,613...81,655,934

G

coiled-coil and C2 domain containing 2A

CTD Direct Evidence: marker/mechanism

NCBI chr27:34,625,701...34,761,873
Ensembl chr27:34,625,105...34,761,745

G

coiled-coil domain containing 181

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:59,624,426...59,658,597
Ensembl chr25:59,626,896...59,658,421

G

coiled-coil domain containing 185

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:6,159,806...6,162,687
Ensembl chr25:6,159,933...6,161,804

G

coiled-coil domain containing 190

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

G

centriole, cilia and spindle associated protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:66,593,506...66,611,462
Ensembl chr25:66,589,906...66,610,999

G

chaperonin containing TCP1 subunit 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:7,518,729...7,545,296
Ensembl chr20:7,518,846...7,545,677

G

CD160 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:13,009,168...13,029,766
Ensembl chr20:13,012,460...13,020,466

G

CD1b molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:5,588,575...5,593,617
Ensembl chr20:5,590,274...5,593,364

G

CD1c molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:5,633,807...5,638,528
Ensembl chr20:5,634,457...5,637,860

G

CD1d molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:5,726,307...5,733,355
Ensembl chr20:5,727,049...5,730,061

G

CD244 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:3,103,226...3,138,322

G

CD247 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:61,508,256...61,596,464
Ensembl chr25:61,508,283...61,595,414

G

CD34 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:21,534,969...21,559,951
Ensembl chr25:21,534,983...21,561,215

G

CD3e molecule

CTD Direct Evidence: marker/mechanism

NCBI chr 1:109,681,142...109,692,835
Ensembl chr 1:109,681,065...109,692,839

G

CD46 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:21,650,825...21,693,898
Ensembl chr25:21,655,969...21,693,878

G

CD48 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:3,235,817...3,253,107
Ensembl chr20:3,235,988...3,251,655

G

CD55 molecule (Cromer blood group)

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:22,055,138...22,092,472
Ensembl chr25:22,073,629...22,092,173

G

CD5 molecule like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:6,059,103...6,074,657
Ensembl chr20:6,065,620...6,070,904

G

CD84 molecule

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:3,358,751...3,397,075
Ensembl chr20:3,358,827...3,389,895

G

CDC42 binding protein kinase alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:2,463,764...2,777,699
Ensembl chr25:2,464,952...2,773,353

G

CDC42 small effector 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr20:12,633,187...12,636,838
Ensembl chr16:41,319,304...41,319,540
Ensembl chr16:41,319,304...41,319,540

G

cell division cycle 73

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:36,167,482...36,302,918
Ensembl chr25:36,170,134...36,302,812

G

cyclin dependent kinase 18

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr25:23,809,633...23,838,350
Ensembl chr25:23,809,352...23,838,345

G