Connective 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 Tissue Neoplasms	go back to main search page
Accession:	DOID:9003944	browse the term
Definition:	Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.
Synonyms:	exact_synonym:	connective tissue neoplasm; neoplasm of connective tissues; tumour of connective tissue
	xref:	MESH:D009372; MONDO:0021581

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Rat (1838) Mouse (1977) Human (30831) Chinchilla (1577) Bonobo (1733) Dog (1875) Squirrel (1603) Pig (1695) Green Monkey (1683) Naked Mole-rat (1561) All
Genes (1751) Cell Lines (226)

Abdominal Fibromatosis

term browser

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Object Name

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Evidence

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PubMed Reference(s)

RGD Reference(s)

Position

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APC, WNT signaling pathway regulator

CTD Direct Evidence: marker/mechanism

NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605

adenomatoid tumor

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PubMed Reference(s)

RGD Reference(s)

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G

TNF receptor-associated factor 7

DNA:missense mutations:multiple

RGD

NCBI chr17:24,727,824...24,746,912
Ensembl chr17:24,727,536...24,746,912

Adult Cerebral Astrocytoma

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PubMed Reference(s)

RGD Reference(s)

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G

matrix metallopeptidase 1a (interstitial collagenase)

susceptibility

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

RGD

NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857

G

matrix metallopeptidase 1b (interstitial collagenase)

susceptibility

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

NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047

Aggressive Fibromatosis

term browser

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Notes

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PubMed Reference(s)

RGD Reference(s)

Position

G

APC, WNT signaling pathway regulator

CTD Direct Evidence: marker/mechanism

NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605

G

cellular communication network factor 2

mRNA:increased expression:tumor (human)

RGD

NCBI chr10:24,471,340...24,474,581
Ensembl chr10:24,471,340...24,474,581

G

serine (or cysteine) peptidase inhibitor, clade E, member 1

susceptibility

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

RGD

NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122

G

tumor necrosis factor

CTD Direct Evidence: therapeutic

NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983

AIDS-Related Kaposi Sarcoma

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PubMed Reference(s)

RGD Reference(s)

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G

B cell leukemia/lymphoma 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004

anaplastic astrocytoma

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PubMed Reference(s)

RGD Reference(s)

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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:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009

G

Kirsten rat sarcoma viral oncogene homolog

mRNA:decreased expression:brain

RGD

NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965

G

transformation related protein 53

ClinVar Annotator: match by term: Astrocytoma, anaplastic

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

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

anaplastic ependymoma

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RGD Reference(s)

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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 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208

G

ring finger protein 213

ClinVar Annotator: match by term: Anaplastic ependymoma

NCBI chr11:119,280,778...119,378,245
Ensembl chr11:119,283,926...119,378,244

G

runt related transcription factor 1

ClinVar Annotator: match by term: Anaplastic ependymoma

PMID:23753029 PMID:25741868 PMID:26580448 PMID:28492532 PMID:28801348 More...

NCBI chr16:92,398,354...92,622,962
Ensembl chr16:92,398,354...92,623,037

Angiomatoid Fibrous Histiocytoma

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PubMed Reference(s)

RGD Reference(s)

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G

cAMP responsive element binding protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:64,571,963...64,643,707
Ensembl chr 1:64,571,804...64,643,707

angiomyolipoma

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RGD Reference(s)

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8-oxoguanine DNA-glycosylase 1

no_association

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

RGD

PMID:19265534 PMID:17932460 PMID:17932460

RGD:8657154, RGD:8657155, RGD:8657155

NCBI chr 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029

G

phosphatase and tensin homolog

protein:increased expression:kidney (human)

RGD

NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560

G

signal transducer and activator of transcription 1

protein:increased serine phosphorylation:kidney

RGD

NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024

G

signal transducer and activator of transcription 3

protein:increased tyrosine phosphorylation:kidney

RGD

NCBI chr11:100,777,632...100,830,447
Ensembl chr11:100,775,924...100,830,366

G

TSC complex subunit 2

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

RGD

NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604

astroblastoma

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microRNA 542

disease_progression

NCBI chr X:52,138,280...52,138,364
Ensembl chr X:52,138,280...52,138,364

G

phosphoinositide-3-kinase regulatory subunit 1

severity

RGD

PMID:26956052 PMID:26286747

RGD:11343921, RGD:13782052

NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725

G

polymerase (DNA directed), epsilon

ClinVar Annotator: match by term: Neuroepithelial neoplasm

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

NCBI chr 5:110,434,185...110,485,319
Ensembl chr 5:110,434,172...110,485,340

astroblastoma, MN1-altered

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RIKEN cDNA 4930550C14 gene

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

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

NCBI chr 9:53,313,814...53,345,726
Ensembl chr 9:53,313,625...53,345,702

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ataxia telangiectasia mutated

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

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

NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040

G

TSC complex subunit 2

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

PMID:25741868 PMID:28492532

NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604

bone giant cell tumor

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G

H3.3 histone A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:180,630,125...180,641,127
Ensembl chr 1:180,628,397...180,641,508

bone osteosarcoma

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ATRX, chromatin remodeler

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:7697714 PMID:23820649 PMID:24690944 PMID:24805811 PMID:25741868 More...

NCBI chr X:104,841,221...104,972,978
Ensembl chr X:104,841,221...104,973,009

G

checkpoint kinase 2

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:3313277 PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 More...

NCBI chr 5:110,987,668...111,022,006
Ensembl chr 5:110,987,845...111,022,011

G

epidermal growth factor-containing fibulin-like extracellular matrix protein 2

exacerbates
disease_progression

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

RGD

PMID:28339091 PMID:27157136

RGD:42722011, RGD:42722013

NCBI chr19:5,523,974...5,532,548
Ensembl chr19:5,523,982...5,532,545

G

RB transcriptional corepressor 1

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:1352883 PMID:2594029 PMID:2601691 PMID:7881418 PMID:8651278 More...

NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262

G

transformation related protein 53

ClinVar Annotator: match by term: Bone osteosarcoma

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

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

G

TSC complex subunit 2

ClinVar Annotator: match by term: Bone osteosarcoma

PMID:25741868 PMID:26822237

NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604

Bone Tissue Neoplasms

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PubMed Reference(s)

RGD Reference(s)

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G

glutamate receptor, metabotropic 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:10,561,803...10,958,126
Ensembl chr10:10,561,803...10,958,100

brain glioblastoma multiforme

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G

eukaryotic translation elongation factor 2

protein:increased expression:brain (human)

RGD

NCBI chr10:81,012,465...81,018,343
Ensembl chr10:81,012,465...81,018,332

G

microRNA 139

RNA:decreased expression:brain:

RGD

NCBI chr 7:101,124,583...101,124,650
Ensembl chr 7:101,124,583...101,124,650

G

neural cell adhesion molecule 1

disease_progression

RGD

NCBI chr 9:49,413,434...49,710,909
Ensembl chr 9:49,413,436...49,710,225

G

SUFU negative regulator of hedgehog signaling

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

RGD

NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243

brain glioma

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Source

PubMed Reference(s)

RGD Reference(s)

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G

ADAM metallopeptidase domain 3

DNA:deletion

RGD

NCBI chr 8:25,167,248...25,216,393
Ensembl chr 8:25,167,241...25,215,868

G

BCL2-associated X protein

treatment

RGD

PMID:27255231 PMID:29324390

RGD:13792502, RGD:13792598

NCBI chr 7:45,111,124...45,116,332
Ensembl chr 7:45,111,121...45,116,322

G

B cell leukemia/lymphoma 2

treatment

RGD

PMID:27255231 PMID:29324390

RGD:13792502, RGD:13792598

NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004

G

baculoviral IAP repeat-containing 3

exacerbates

mRNA:increased expression:brain (human)

NCBI chr 9:7,848,698...7,873,199
Ensembl chr 9:7,848,700...7,873,187

G

baculoviral IAP repeat-containing 5

exacerbates

mRNA:increased expression:brain (human)

NCBI chr11:117,740,063...117,746,569
Ensembl chr11:117,740,077...117,746,569

G

bone marrow stromal cell antigen 2

mRNA,protein:increased expression:brain:

RGD

NCBI chr 8:71,986,899...71,990,116
Ensembl chr 8:71,986,899...71,990,100

G

caspase 3

treatment

RGD

NCBI chr 8:47,070,326...47,092,733
Ensembl chr 8:47,070,326...47,092,724

G

Fas associated via death domain

treatment

RGD

NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200

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Fas cell surface death receptor

treatment

RGD

NCBI chr19:34,267,926...34,305,175
Ensembl chr19:34,268,066...34,305,172

G

Fas ligand

treatment

RGD

NCBI chr 1:161,608,260...161,616,064
Ensembl chr 1:161,608,258...161,616,064

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forkhead box A1

disease_progression

RGD

NCBI chr12:57,585,750...57,594,815
Ensembl chr12:57,587,414...57,593,702

G

glyceraldehyde-3-phosphate dehydrogenase

RGD

NCBI chr 6:125,138,812...125,143,450
Ensembl chr 6:125,138,678...125,143,430

G

kinase insert domain protein receptor

protein:increased expression:brain (human)

RGD

NCBI chr 5:76,093,487...76,139,880
Ensembl chr 5:76,093,487...76,139,118

G

microRNA 21a

human cells in mouse model; RNA:increased expression:brain (human)

RGD

NCBI chr11:86,474,893...86,474,984
Ensembl chr11:86,474,893...86,474,984

G

NLR family, apoptosis inhibitory protein 2

exacerbates

mRNA:increased expression:brain (human)

NCBI chr13:100,280,571...100,338,630
Ensembl chr13:100,280,571...100,338,600

G

protein tyrosine phosphatase receptor type B

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

RGD

PMID:33900414 PMID:16923162

RGD:151660356, RGD:151660368

NCBI chr10:116,111,407...116,225,443
Ensembl chr10:116,111,428...116,225,440

G

vascular endothelial growth factor A

protein:increased expression:brain (human)

RGD

NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295

G

X-ray repair complementing defective repair in Chinese hamster cells 1

susceptibility

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

RGD

NCBI chr 7:24,246,124...24,272,863
Ensembl chr 7:24,245,714...24,272,865

G

X-ray repair complementing defective repair in Chinese hamster cells 3

susceptibility

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

RGD

NCBI chr12:111,769,626...111,780,326
Ensembl chr12:111,769,626...111,780,307

brain stem glioma

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PubMed Reference(s)

RGD Reference(s)

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G

paired box 3

mRNA,protein:increased expression:brain stem:

RGD

NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771

G

platelet derived growth factor receptor, alpha polypeptide

severity

RGD

NCBI chr 5:75,311,988...75,358,867
Ensembl chr 5:75,312,953...75,358,876

breast fibroadenoma

term browser

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RGD Reference(s)

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wingless-type MMTV integration site family, member 7B

RGD

NCBI chr15:85,419,638...85,466,022
Ensembl chr15:85,419,638...85,466,674

capillary hemangioma

term browser

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PubMed Reference(s)

RGD Reference(s)

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G

thymoma viral proto-oncogene 3

ClinVar Annotator: match by term: Capillary hemangioma

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

NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769

G

cellular communication network factor 1

disease_progression

mRNA:increased expression:skin (human)

RGD

NCBI chr 3:145,352,726...145,355,740
Ensembl chr 3:145,352,731...145,355,736

G

NPC intracellular cholesterol transporter 1

ClinVar Annotator: match by term: Capillary hemangioma

NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457

Carney complex

term browser

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Evidence

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PubMed Reference(s)

RGD Reference(s)

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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 chr11:109,563,752...109,613,989
Ensembl chr11:109,560,575...109,613,105

G

protein kinase, cAMP dependent regulatory, type I, 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
OMIM:160980 | OMIM:605244 | OMIM:608837
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

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

NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482

Carney Complex Variant

term browser

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Source

PubMed Reference(s)

RGD Reference(s)

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G

myosin, heavy polypeptide 8, skeletal muscle, perinatal

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Carney complex variant

OMIM
CTD
ClinVar

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

NCBI chr11:67,167,950...67,199,460
Ensembl chr11:67,167,950...67,199,460

G

myosin heavy chain gene antisense RNA

ClinVar Annotator: match by term: Carney complex variant

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

NCBI chr11:67,115,022...67,128,107
Ensembl chr11:67,102,082...67,128,720

Carney Triad

term browser

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

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G

succinate dehydrogenase complex, subunit A, flavoprotein (Fp)

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 chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399

G

succinate dehydrogenase complex, subunit B, iron sulfur (Ip)

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

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

NCBI chr 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504

G

succinate dehydrogenase complex, subunit C, integral membrane protein

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 chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172

Carney-Stratakis syndrome

term browser

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Object Name

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Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIKEN cDNA 2310030G06 gene

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr 9:50,650,991...50,657,827
Ensembl chr 9:50,650,991...50,657,836

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 9:50,686,570...50,754,939
Ensembl chr 9:50,686,319...50,754,842

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 9:51,013,486...51,031,224
Ensembl chr 9:50,972,201...51,031,175

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 9:50,672,674...50,679,536
Ensembl chr 9:50,674,128...50,686,820

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 9:50,657,251...50,667,936
Ensembl chr 9:50,662,625...50,667,936

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 9:50,574,052...50,650,900
Ensembl chr 9:50,574,052...50,650,817

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 9:50,545,933...50,571,080
Ensembl chr 9:50,545,933...50,571,080

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 9:50,679,538...50,683,981
Ensembl chr 9:50,679,536...50,684,648

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 9:50,992,610...51,017,183
Ensembl chr 9:50,992,415...51,013,378

G

heat shock protein 2

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr 9:50,662,372...50,663,654
Ensembl chr 9:50,662,378...50,663,654

G

layilin

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr 9:50,966,323...50,988,501
Ensembl chr 9:50,965,940...50,988,394

G

microRNA 34b

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr 9:51,014,862...51,014,945
Ensembl chr 9:51,014,862...51,014,945

G

microRNA 34c

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr 9:51,014,334...51,014,410
Ensembl chr 9:51,014,334...51,014,410

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 chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699

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 9:50,516,542...50,528,567
Ensembl chr 9:50,516,540...50,528,764

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 9:50,528,621...50,536,300
Ensembl chr 9:50,528,621...50,536,300

G

POU domain, class 2, associating factor 1

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr 9:51,124,990...51,151,379
Ensembl chr 9:51,125,008...51,151,380

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 9:51,181,558...51,189,865
Ensembl chr 9:51,181,558...51,190,951

G

protein phosphatase 2, regulatory subunit A, beta

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr 9:50,767,946...50,810,625
Ensembl chr 9:50,756,601...50,805,529

G

succinate dehydrogenase complex, subunit B, iron sulfur (Ip)

ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 4:140,688,582...140,706,509
Ensembl chr 4:140,688,514...140,706,504

G

succinate dehydrogenase complex, subunit C, integral membrane protein

ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 1:170,956,726...170,978,209
Ensembl chr 1:170,954,734...170,978,172

G

succinate dehydrogenase complex, subunit D, integral membrane protein

ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr 9:50,507,640...50,515,149
Ensembl chr 9:50,507,657...50,515,112

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 9:50,800,944...50,920,432
Ensembl chr 9:50,804,101...50,920,373

G

translocase of inner mitochondrial membrane 8B

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr 9:50,515,227...50,516,620
Ensembl chr 9:50,515,210...50,516,620

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 chr 6:113,600,955...113,608,595
Ensembl chr 6:113,600,920...113,608,594

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 chr17:88,282,478...88,298,320
Ensembl chr17:88,282,490...88,298,320

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)

RGD

PMID:26014354 PMID:26014354

RGD:152985535, RGD:152985535

NCBI chr 2:180,961,504...180,998,409
Ensembl chr 2:180,961,532...180,998,409

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:

RGD

NCBI chr16:16,801,246...16,865,317
Ensembl chr16:16,801,246...16,865,317

chondroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

H3.3 histone B

CTD Direct Evidence: marker/mechanism

NCBI chr11:115,912,787...115,921,313
Ensembl chr11:115,912,738...115,918,788

chondrodysplasia Blomstrand type

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myosin, light polypeptide 3

ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type

NCBI chr 9:110,592,746...110,598,870
Ensembl chr 9:110,570,929...110,598,866

G

parathyroid hormone 1 receptor

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blomstrand lethal osteochondrodysplasia | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type

OMIM
CTD
ClinVar

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

NCBI chr 9:110,551,132...110,576,213
Ensembl chr 9:110,551,153...110,576,213

chondroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

isocitrate dehydrogenase 1 (NADP+), soluble

CTD Direct Evidence: marker/mechanism

PMID:22057234 PMID:25895133

NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659

G

isocitrate dehydrogenase 2 (NADP+), mitochondrial

CTD Direct Evidence: marker/mechanism

PMID:22057234 PMID:25895133

NCBI chr 7:79,744,594...79,768,356
Ensembl chr 7:79,744,594...79,765,140

G

Indian hedgehog

RGD

NCBI chr 1:74,984,474...74,990,831
Ensembl chr 1:74,984,474...74,990,831

G

protein tyrosine phosphatase, non-receptor type 11

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

RGD

NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460

G

smoothened, frizzled class receptor

treatment

RGD

NCBI chr 6:29,735,480...29,761,359
Ensembl chr 6:29,735,502...29,761,364

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)

RGD

NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919

G

collagen, type II, alpha 1

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

CTD
RGD

PMID:23770606 PMID:23770606

NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576

G

exostosin glycosyltransferase 1

ClinVar Annotator: match by term: Chondrosarcoma | ClinVar Annotator: match by term: Chondrosarcoma, somatic
CTD Direct Evidence: marker/mechanism
mRNA:decreased expression:epiphyseal plate (human)

OMIM
ClinVar
CTD
RGD

PMID:7550340 PMID:8981950 PMID:9521425 PMID:10679937 PMID:10713884 More...

NCBI chr15:52,931,657...53,209,579
Ensembl chr15:52,927,434...53,209,555

G

fibroblast growth factor receptor 3

protein:increased expression:growth plate

RGD

NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412

G

mechanistic target of rapamycin kinase

disease_progression

RGD

NCBI chr 4:148,533,039...148,642,142
Ensembl chr 4:148,533,068...148,642,140

G

TATA-box binding protein associated factor 15

extraskeletal myxoid chondrosarcomas (EMC)

RGD

NCBI chr11:83,363,897...83,397,569
Ensembl chr11:83,363,912...83,397,569

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)

RGD

NCBI chr11:107,824,213...108,237,360
Ensembl chr11:107,824,213...108,234,754

chordoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

breast cancer 2, early onset

ClinVar Annotator: match by term: Chordoma

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

NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794

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 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208

G

brachyury, T-box transcription factor T

CTD Direct Evidence: marker/mechanism

PMID:19801981 PMID:23064415

NCBI chr17:8,653,255...8,661,328
Ensembl chr17:8,653,255...8,661,328

chromosome 13q14 deletion syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIKEN cDNA 4933427D06 gene

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

NCBI chr 6:89,073,092...89,087,021
Ensembl chr 6:89,073,092...89,087,013

G

aconitate decarboxylase 1

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

NCBI chr14:103,284,448...103,294,009
Ensembl chr14:103,284,413...103,294,009

G

ALG11 alpha-1,2-mannosyltransferase

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

NCBI chr 8:22,550,731...22,561,643
Ensembl chr 8:22,550,737...22,561,643

G

ADP-ribosylation factor-like 11

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

NCBI chr14:61,543,740...61,549,386
Ensembl chr14:61,547,202...61,549,385

G

ATPase, copper transporting, beta polypeptide

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

NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321

G

bora, aurora kinase A activator

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

NCBI chr14:99,283,880...99,311,976
Ensembl chr14:99,283,658...99,311,976

G

calcium binding protein 39-like

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

NCBI chr14:59,678,400...59,786,353
Ensembl chr14:59,678,421...59,823,213

G

coiled-coil domain containing 70

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

NCBI chr 8:22,459,791...22,464,071
Ensembl chr 8:22,459,791...22,464,057

G

cytidine and dCMP deaminase domain containing 1

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

NCBI chr14:59,796,837...59,835,433
Ensembl chr14:59,796,837...59,835,408

G

cytoskeleton associated protein 2

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

NCBI chr 8:22,658,168...22,675,835
Ensembl chr 8:22,658,176...22,675,835

G

ceroid-lipofuscinosis, neuronal 5

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

NCBI chr14:103,307,679...103,315,064
Ensembl chr14:103,307,652...103,315,064

G

chondromodulin

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

NCBI chr14:79,875,126...79,899,596
Ensembl chr14:79,875,130...79,899,610

G

COMM domain containing 6

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

NCBI chr14:101,871,202...101,877,907
Ensembl chr14:101,870,417...101,878,122

G

cysteinyl leukotriene receptor 2

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

NCBI chr14:73,263,043...73,286,554
Ensembl chr14:73,263,043...73,286,554

G

dachshund family transcription factor 1

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

NCBI chr14:98,024,294...98,407,208
Ensembl chr14:98,024,289...98,407,201

G

diaphanous related formin 3

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

NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671

G

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

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

NCBI chr14:99,314,070...99,337,217
Ensembl chr14:99,312,642...99,337,206

G

deleted in lymphocytic leukemia, 7

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

NCBI chr14:62,513,678...62,530,428
Ensembl chr14:62,513,680...62,530,496

G

emopamil binding protein-like

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

NCBI chr14:61,577,212...61,597,894
Ensembl chr14:61,569,191...61,597,888

G

endothelin receptor type B

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

NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838

G

family with sequence similarity 124, member A

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

NCBI chr14:62,793,186...62,845,935
Ensembl chr14:62,793,186...62,845,935

G

F-box and leucine-rich repeat protein 3

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

NCBI chr14:103,318,470...103,337,016
Ensembl chr14:103,317,675...103,337,002

G

fibronectin type III domain containing 3A

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

NCBI chr14:72,775,388...72,948,141
Ensembl chr14:72,775,386...72,947,443

G

predicted gene 4131

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

NCBI chr14:62,699,937...62,718,604
Ensembl chr14:62,700,863...62,804,370

G

predicted gene, 45935

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

NCBI chr14:59,618,282...59,678,329

G

integrator complex subunit 6

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

NCBI chr14:62,913,774...62,998,617
Ensembl chr14:62,913,779...62,998,618

G

integral membrane protein 2B

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

NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729

G

potassium channel regulator

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

NCBI chr14:61,844,905...61,850,282
Ensembl chr14:61,844,906...61,850,275

G

potassium channel tetramerisation domain containing 12

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

NCBI chr14:103,214,017...103,220,073
Ensembl chr14:103,214,017...103,220,073

G

Kruppel-like transcription factor 12

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

NCBI chr14:100,103,617...100,719,681
Ensembl chr14:100,108,068...100,522,115

G

Kruppel-like transcription factor 5

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

NCBI chr14:99,536,127...99,550,848
Ensembl chr14:99,536,127...99,552,472

G

kelch-like 1

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

NCBI chr14:96,342,695...96,756,525
Ensembl chr14:96,340,172...96,756,538

G

karyopherin subunit alpha 3

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

NCBI chr14:61,602,635...61,677,396
Ensembl chr14:61,602,660...61,677,323

G

keratin associated protein 21-1

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

NCBI chr16:89,199,915...89,200,662
Ensembl chr16:89,200,106...89,200,756

G

LIM domain only 7

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

NCBI chr14:101,967,353...102,172,144
Ensembl chr14:101,967,386...102,172,146

G

lysophosphatidic acid receptor 6

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

NCBI chr14:73,475,331...73,477,798
Ensembl chr14:73,475,335...73,480,734

G

mediator complex subunit 4

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

NCBI chr14:73,747,489...73,755,985
Ensembl chr14:73,747,465...73,756,289

G

microRNA 15a

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

NCBI chr14:61,869,476...61,869,559
Ensembl chr14:61,869,476...61,869,559

G

microRNA 16-1

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

NCBI chr14:61,869,329...61,869,421
Ensembl chr14:61,869,329...61,869,421

G

microRNA 759

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

NCBI chr14:79,975,871...79,975,968
Ensembl chr14:79,975,871...79,975,968

G

MYC binding protein 2, E3 ubiquitin protein ligase

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

NCBI chr14:103,350,847...103,584,276
Ensembl chr14:103,350,847...103,584,250

G

mitotic spindle organizing protein 1

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

NCBI chr14:99,271,980...99,283,898
Ensembl chr14:99,271,980...99,283,570

G

Nedd4 family interacting protein 2

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

NCBI chr14:105,495,975...105,546,732
Ensembl chr14:105,496,008...105,546,732

G

NIMA (never in mitosis gene a)-related expressed kinase 3

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

NCBI chr 8:22,618,299...22,657,009
Ensembl chr 8:22,618,299...22,656,451

G

NIMA (never in mitosis gene a)-related expressed kinase 5

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

NCBI chr 8:22,563,631...22,615,443
Ensembl chr 8:22,563,632...22,615,069

G

nudix hydrolase 15

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

NCBI chr14:73,756,320...73,785,682
Ensembl chr14:73,756,317...73,785,682

G

ORC ubiquitin ligase 1

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

NCBI chr14:104,714,970...104,760,148
Ensembl chr14:104,714,972...104,760,081

G

olfactomedin 4

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

NCBI chr14:80,237,742...80,260,581
Ensembl chr14:80,221,521...80,260,579

G

protocadherin 17

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

NCBI chr14:84,680,626...84,775,005
Ensembl chr14:84,681,003...84,776,442

G

protocadherin 20

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

NCBI chr14:88,702,183...88,708,832
Ensembl chr14:88,702,179...88,708,832

G

protocadherin 8

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

NCBI chr14:80,004,224...80,008,752
Ensembl chr14:80,004,215...80,008,752

G

protocadherin 9

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

NCBI chr14:93,251,136...94,132,619
Ensembl chr14:93,250,846...94,128,115

G

PHD finger protein 11D

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

NCBI chr14:59,584,646...59,608,004
Ensembl chr14:59,584,856...59,602,919

G

progesterone immunomodulatory binding factor 1

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

NCBI chr14:99,336,892...99,492,335
Ensembl chr14:99,336,860...99,491,929

G

POU domain, class 4, transcription factor 1

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

NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435

G

RB transcriptional corepressor 1

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

NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262

G

RNA binding motif protein 26

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

NCBI chr14:105,344,187...105,418,475
Ensembl chr14:105,344,187...105,414,763

G

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1

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

NCBI chr14:59,438,471...59,474,716
Ensembl chr14:59,438,658...59,474,714

G

regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2

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

NCBI chr14:73,376,185...73,421,495
Ensembl chr14:73,360,477...73,445,283

G

ribonuclease H2, subunit B

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

NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441

G

sciellin

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

NCBI chr14:103,750,499...103,850,782
Ensembl chr14:103,750,778...103,850,233

G

serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3

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

NCBI chr14:62,900,743...62,929,692
Ensembl chr14:62,901,116...62,929,692

G

SET domain, bifurcated 2

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

NCBI chr14:59,639,458...59,678,329
Ensembl chr14:59,639,458...59,678,333

G

SLAIN motif family, member 1

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

NCBI chr14:103,887,664...103,942,343
Ensembl chr14:103,887,664...103,942,343

G

SLIT and NTRK-like family, member 1

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

NCBI chr14:109,147,420...109,151,671
Ensembl chr14:109,146,232...109,151,590

G

SLIT and NTRK-like family, member 6

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

NCBI chr14:110,984,770...110,992,640
Ensembl chr14:110,986,012...110,992,581

G

sprouty RTK signaling antagonist 2

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

NCBI chr14:106,129,381...106,134,559
Ensembl chr14:106,129,381...106,134,253

G

SPRY domain containing 7

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

NCBI chr14:61,769,300...61,794,335
Ensembl chr14:61,769,442...61,794,335

G

succinate-Coenzyme A ligase, ADP-forming, beta subunit

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

NCBI chr14:73,790,226...73,833,584
Ensembl chr14:73,762,759...73,833,582

G

SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)

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

NCBI chr14:79,825,100...79,868,237
Ensembl chr14:79,825,131...79,872,636

G

TBC1 domain family, member 4

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

NCBI chr14:101,679,800...101,846,717
Ensembl chr14:101,679,796...101,846,627

G

tudor domain containing 3

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

NCBI chr14:87,647,598...87,782,944
Ensembl chr14:87,654,075...87,782,940

G

thrombospondin, type I, domain 1

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

NCBI chr 8:22,711,623...22,752,973
Ensembl chr 8:22,717,329...22,751,350

G

tripartite motif-containing 13

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

NCBI chr14:61,835,675...61,847,736
Ensembl chr14:61,835,696...61,843,395

G

ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)

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

NCBI chr14:101,891,387...101,933,561
Ensembl chr14:101,891,403...101,933,561

G

vacuolar protein sorting 36

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

NCBI chr 8:22,682,849...22,710,969
Ensembl chr 8:22,682,825...22,710,859

G

WD repeat and FYVE domain containing 2

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

NCBI chr14:63,075,110...63,198,958
Ensembl chr14:63,075,127...63,198,958

clear cell sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL6 interacting corepressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:11,902,976...12,026,769
Ensembl chr X:11,902,979...12,026,594

CLOVES syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

guanine nucleotide binding protein, alpha 11

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

PMID:25741868 PMID:27476652

NCBI chr10:81,364,558...81,380,996
Ensembl chr10:81,364,558...81,381,024

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
OMIM:612918
CTD Direct Evidence: marker/mechanism
DNA: missense mutations: exon :p.H1047R, p.H1047L

OMIM
ClinVar
MouseDO
CTD
RGD

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

NCBI chr 3:32,451,203...32,520,256
Ensembl chr 3:32,451,820...32,522,635

G

phosphoinositide-3-kinase regulatory subunit 1

ClinVar Annotator: match by term: CLOVES syndrome

PMID:25741868 PMID:34040190

NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725

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 chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243

G

transformation related protein 53

ClinVar Annotator: match by term: Infantile fibrosarcoma

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

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

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 9:45,817,745...45,843,405
Ensembl chr 9:45,817,795...45,841,024

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

NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382

G

kit ligand

CTD Direct Evidence: marker/mechanism

NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278

dermatofibrosarcoma protuberans

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen, type I, alpha 1

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

RGD

PMID:12641779 PMID:22153773

RGD:2292195, RGD:5688300

NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868

G

platelet derived growth factor, B polypeptide

DNA:gene fusion:exon
ClinVar Annotator: match by term: Dermatofibrosarcoma protuberans
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
RGD

PMID:25741868 PMID:28492532 PMID:12641779

NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178

desmoid tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC, WNT signaling pathway regulator

ClinVar Annotator: match by term: Desmoid tumor

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

NCBI chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605

G

catenin beta 1

ClinVar Annotator: match by term: Desmoid tumor

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

NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573

desmoplastic/nodular medulloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIKEN cDNA 2310034G01 gene

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:46,336,640...46,337,427
Ensembl chr19:46,336,640...46,338,741

G

ARP1 actin-related protein 1A, centractin alpha

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:46,365,252...46,384,180
Ensembl chr19:46,365,250...46,384,187

G

AT-rich interaction domain 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr15:96,185,403...96,303,344
Ensembl chr15:96,185,399...96,302,873

G

ADP-ribosylation factor-like 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:46,519,548...46,561,621
Ensembl chr19:46,519,535...46,561,637

G

arsenite methyltransferase

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:46,695,124...46,729,538
Ensembl chr19:46,695,897...46,729,538

G

ATP synthase membrane subunit k

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,071,910...47,079,086
Ensembl chr19:47,071,903...47,079,086

G

BLOC-1 related complex subunit 7

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:46,678,345...46,691,821
Ensembl chr19:46,678,345...46,691,821

G

calcium homeostasis modulator 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,129,474...47,132,613
Ensembl chr19:47,129,348...47,132,693

G

calcium homeostasis modulator family member 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,120,671...47,126,733
Ensembl chr19:47,093,792...47,126,733

G

calcium homeostasis modulator 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,140,138...47,146,203
Ensembl chr19:47,140,048...47,146,203

G

cilia and flagella associated protein 43

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,723,706...47,825,893
Ensembl chr19:47,725,296...47,907,726

G

cilia and flagella associated protein 58

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,926,151...48,023,818
Ensembl chr19:47,926,114...48,023,826

G

cyclin M2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:46,745,273...46,867,019
Ensembl chr19:46,750,035...46,868,631

G

collagen, type XVII, alpha 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,634,783...47,680,460
Ensembl chr19:47,634,783...47,680,533

G

CCCTC-binding factor

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr 8:106,351,135...106,409,554
Ensembl chr 8:106,363,200...106,409,554

G

cytochrome P450, family 17, subfamily a, polypeptide 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:46,655,604...46,661,439
Ensembl chr19:46,655,604...46,661,611

G

glutathione S-transferase omega 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,843,412...47,853,229
Ensembl chr19:47,843,409...47,853,229

G

glutathione S-transferase omega 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,853,879...47,874,747
Ensembl chr19:47,853,973...47,874,763

G

internexin neuronal intermediate filament protein, alpha

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,003,120...47,013,766
Ensembl chr19:47,003,137...47,013,766

G

inositol 1,4,5-triphosphate receptor interacting protein

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,883,029...47,907,738
Ensembl chr19:47,883,041...47,907,738

G

Cyp17a1 promoter

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:46,661,307...46,662,356

G

major facilitator superfamily domain containing 13a

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:46,345,315...46,363,693
Ensembl chr19:46,329,560...46,363,691

G

neuralized E3 ubiquitin protein ligase 1A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,167,259...47,247,880
Ensembl chr19:47,167,259...47,247,880

G

5'-nucleotidase, cytosolic II

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:46,873,829...47,003,613
Ensembl chr19:46,871,756...47,003,592

G

polycomb group ring finger 6

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,022,056...47,039,379
Ensembl chr19:47,022,056...47,039,345

G

programmed cell death 11

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,079,183...47,119,585
Ensembl chr19:47,079,207...47,120,304

G

SWI5 dependent recombination repair 1

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,720,159...47,724,027
Ensembl chr19:47,720,121...47,724,027

G

sideroflexin 2

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:46,561,798...46,585,340
Ensembl chr19:46,561,804...46,586,505

G

SH3 and PX domains 2A

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,248,613...47,453,053
Ensembl chr19:47,248,613...47,452,840

G

STE20-like kinase

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,568,458...47,633,685
Ensembl chr19:47,568,117...47,633,685

G

sortilin-related VPS10 domain containing receptor 3

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:48,194,464...48,793,944
Ensembl chr19:48,194,464...48,793,944

G

STN1, CST complex subunit

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,489,470...47,534,284
Ensembl chr19:47,489,472...47,525,946

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:46,385,335...46,477,243
Ensembl chr19:46,385,335...46,477,243

G

TATA-box binding protein associated factor 5

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:47,056,187...47,071,918
Ensembl chr19:47,056,185...47,071,918

G

tripartite motif-containing 8

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:46,490,087...46,504,894
Ensembl chr19:46,490,141...46,505,287

G

WW domain binding protein 1 like

ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma

NCBI chr19:46,587,545...46,645,828
Ensembl chr19:46,587,523...46,645,828

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

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY

OMIM
CTD
ClinVar

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

NCBI chr 4:89,055,607...89,099,327
Ensembl chr 4:89,055,359...89,099,318

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 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382

diffuse intrinsic pontine glioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 interacting protein C-terminal helicase 1

ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma

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

NCBI chr11:85,948,957...86,092,041
Ensembl chr11:85,948,964...86,092,019

G

neurofibromin 1

ClinVar Annotator: match by term: Diffuse intrinsic pontine glioma

PMID:25741868 PMID:28492532

NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438

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

anaplastic lymphoma kinase

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

PMID:25741868 PMID:28492532

NCBI chr17:72,174,206...72,911,719
Ensembl chr17:72,175,967...72,911,622

G

breast cancer 2, early onset

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

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 5:150,445,759...150,493,612
Ensembl chr 5:150,446,095...150,493,794

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 chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789

G

Fanconi anemia, complementation group A

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

NCBI chr 8:123,993,033...124,045,390
Ensembl chr 8:123,995,039...124,045,315

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 chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412

G

isocitrate dehydrogenase 1 (NADP+), soluble

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

NCBI chr 1:65,197,775...65,225,638
Ensembl chr 1:65,197,775...65,225,659

G

lysine demethylase 5B

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

NCBI chr 1:134,487,916...134,560,621
Ensembl chr 1:134,487,909...134,563,023

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 chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438

G

partner and localizer of BRCA2

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

NCBI chr 7:121,706,485...121,732,203
Ensembl chr 7:121,706,485...121,732,208

G

PMS1 homolog2, mismatch repair system component

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 chr 5:143,846,379...143,922,538
Ensembl chr 5:143,846,782...143,870,786
Ensembl chr 5:143,846,782...143,870,786

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 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679

G

succinate dehydrogenase complex, subunit A, flavoprotein (Fp)

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

PMID:25741868 PMID:28492532

NCBI chr13:74,470,374...74,498,359
Ensembl chr13:74,470,373...74,498,399

G

transformation related protein 53

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 chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

G

tetraspanin 31

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

PMID:25741868 PMID:28492532

NCBI chr10:126,903,156...126,906,977
Ensembl chr10:126,903,149...126,906,133

dysembryoplastic neuroepithelial tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Braf transforming gene

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

RGD

NCBI chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397

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

RGD

NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382

Ependymomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B cell CLL/lymphoma 7C

CTD Direct Evidence: marker/mechanism

NCBI chr 7:127,260,626...127,307,938
Ensembl chr 7:127,260,628...127,308,105

G

Eph receptor B2

CTD Direct Evidence: marker/mechanism

NCBI chr 4:136,374,850...136,563,637
Ensembl chr 4:136,374,850...136,563,299

G

glial cell line derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr15:7,839,529...7,867,061
Ensembl chr15:7,840,327...7,867,056

G

insulin-like growth factor 2

mRNA:increased expression:cerebellum

RGD

NCBI chr 7:142,204,505...142,220,566
Ensembl chr 7:142,204,503...142,220,553

G

RAB3A, member RAS oncogene family

CTD Direct Evidence: marker/mechanism

NCBI chr 8:71,207,258...71,211,276
Ensembl chr 8:71,207,328...71,211,323

G

retbindin

CTD Direct Evidence: marker/mechanism

NCBI chr 8:85,672,880...85,683,235
Ensembl chr 8:85,673,620...85,683,232

G

src homology 2 domain-containing transforming protein C3

DNA:amplification:brain:

RGD

NCBI chr13:51,577,422...51,724,909
Ensembl chr13:51,585,077...51,723,523

G

zinc finger protein 668

CTD Direct Evidence: marker/mechanism

NCBI chr 7:127,460,197...127,476,008
Ensembl chr 7:127,462,219...127,476,000

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:

RGD

NCBI chr10:75,732,603...75,757,448
Ensembl chr10:75,732,603...75,757,451

Ewing sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Brca1 associated protein 1

ClinVar Annotator: match by term: Ewing sarcoma

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

NCBI chr14:30,973,358...30,981,887
Ensembl chr14:30,973,407...30,981,901

G

CD99 antigen

ClinVar Annotator: match by term: CD99 Positive Neoplastic Cells Present

G

cyclin dependent kinase 4

ClinVar Annotator: match by term: Ewing sarcoma

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

NCBI chr10:126,899,404...126,903,157
Ensembl chr10:126,899,403...126,903,789

G

CDKN1A interacting zinc finger protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 2:32,252,724...32,268,311
Ensembl chr 2:32,242,339...32,270,982

G

early growth response 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018

G

Ewing sarcoma breakpoint region 1

ClinVar Annotator: match by term: Ewing sarcoma
CTD Direct Evidence: marker/mechanism

ClinVar
CTD
OMIM
RGD

PMID:16646077 PMID:25741868 PMID:26214589 PMID:27006472 PMID:28492532 More...

NCBI chr11:5,019,687...5,049,314
Ensembl chr11:5,019,689...5,049,266

G

Friend leukemia integration 1

CTD Direct Evidence: marker/mechanism

PMID:11772151 PMID:16646077 PMID:26214589

NCBI chr 9:32,333,500...32,454,292
Ensembl chr 9:32,333,500...32,454,157

G

lysine (K)-specific demethylase 3A

mRNA:increased expression:bone marrow (human)

RGD

NCBI chr 6:71,565,954...71,609,963
Ensembl chr 6:71,565,956...71,609,974

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 chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438

G

tetraspanin 31

ClinVar Annotator: match by term: Ewing sarcoma

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

NCBI chr10:126,903,156...126,906,977
Ensembl chr10:126,903,149...126,906,133

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 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679

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

CTD Direct Evidence: marker/mechanism

NCBI chr 4:48,045,098...48,086,446
Ensembl chr 4:48,045,153...48,086,447

G

TATA-box binding protein associated factor 15

ClinVar Annotator: match by term: TAF15-related condition
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:25741868 PMID:28492532

NCBI chr11:83,363,897...83,397,569
Ensembl chr11:83,363,912...83,397,569

Familial Atrial Myxoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

protein kinase, cAMP dependent regulatory, type I, alpha

ClinVar Annotator: match by term: Familial atrial myxoma
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482

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, Paf1/RNA polymerase II complex component

ClinVar Annotator: match by term: Cystic parathyroid adenoma

NCBI chr 1:143,479,014...143,578,631
Ensembl chr 1:143,474,538...143,578,631

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 chr 5:107,696,828...107,745,754
Ensembl chr 5:107,696,833...107,745,754

familial retinoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RB transcriptional corepressor 1

DNA:mutations:promoter, intron, exon:multiple
ClinVar Annotator: match by term: Hereditary retinoblastoma

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

NCBI chr14:73,430,298...73,563,446
Ensembl chr14:73,421,113...73,563,262

fibrillary astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Kirsten rat sarcoma viral oncogene homolog

mRNA:decreased expression:brain

RGD

NCBI chr 6:145,162,425...145,197,631
Ensembl chr 6:145,162,425...145,195,965

Fibroadenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fos-like antigen 1

mRNA, protein:increased expression:breast

RGD

NCBI chr19:5,497,726...5,505,966
Ensembl chr19:5,497,575...5,505,974

G

mediator complex subunit 12

CTD Direct Evidence: marker/mechanism

PMID:25038752 PMID:26437033

NCBI chr X:100,317,697...100,342,540
Ensembl chr X:100,317,636...100,341,071

G

retinoic acid receptor, alpha

CTD Direct Evidence: marker/mechanism

NCBI chr11:98,818,626...98,865,768
Ensembl chr11:98,818,644...98,865,768

G

wingless-type MMTV integration site family, member 2

mRNA:increased expression:breast

RGD

NCBI chr 6:17,988,939...18,032,771
Ensembl chr 6:17,988,939...18,030,584

G

wingless-type MMTV integration site family, member 4

breast fibroadenoma

RGD

NCBI chr 4:137,004,946...137,026,812
Ensembl chr 4:137,004,800...137,027,037

fibroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anthrax toxin receptor 2

susceptibility

CTD Direct Evidence: marker/mechanism

PMID:12973667 PMID:14508707

NCBI chr 5:98,032,547...98,178,876
Ensembl chr 5:98,030,642...98,178,902

G

BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit

RGD

NCBI chr12:112,919,251...112,964,327
Ensembl chr12:112,923,705...112,964,324

G

glutamate receptor, metabotropic 1

CTD Direct Evidence: marker/mechanism

NCBI chr10:10,561,803...10,958,126
Ensembl chr10:10,561,803...10,958,100

fibrosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 42

RGD

NCBI chr 4:137,047,011...137,085,007
Ensembl chr 4:137,047,007...137,085,031

G

discoidin domain receptor family, member 2

ameliorates

DNA:deletion:exons:

RGD

NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331

G

early growth response 1

human tumor line expressing mouse gene in mouse model

RGD

NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037

G

excision repair cross-complementing rodent repair deficiency, complementation group 6

susceptibility

RGD

NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438

G

serine (or cysteine) peptidase inhibitor, clade E, member 1

severity

RGD

NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122

G

telomerase reverse transcriptase

treatment

RGD

NCBI chr13:73,775,030...73,797,962
Ensembl chr13:73,775,030...73,797,962

G

tumor necrosis factor receptor superfamily, member 1a

human gene in mouse model

RGD

NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447

fibrous histiocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

malignant fibrous histiocytoma amplified sequence 1

RGD

NCBI chr 8:36,054,922...36,146,603
Ensembl chr 8:36,054,952...36,146,603

G

matrix metallopeptidase 21

CTD Direct Evidence: marker/mechanism

NCBI chr 7:133,275,999...133,281,790
Ensembl chr 7:133,275,999...133,281,790

gastrointestinal stromal tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RIKEN cDNA 1700025G04 gene

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:151,760,275...151,967,941
Ensembl chr 1:151,728,154...151,965,876

G

RIKEN cDNA 2310009B15 gene

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:138,779,717...138,784,592
Ensembl chr 1:138,779,721...138,784,590

G

RIKEN cDNA 2310022B05 gene

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:125,362,495...125,390,108
Ensembl chr 8:125,362,495...125,390,108

G

RIKEN cDNA 2310033P09 gene

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr11:59,099,187...59,101,562
Ensembl chr11:59,099,147...59,101,564

G

RIKEN cDNA 4930523C07 gene

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:159,871,950...159,906,157
Ensembl chr 1:159,871,952...159,907,778

G

RIKEN cDNA 4930558K02 gene

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:161,769,658...161,809,940
Ensembl chr 1:161,769,655...161,807,205

G

RIKEN cDNA 4933434E20 gene

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:89,958,941...89,969,754
Ensembl chr 3:89,958,943...89,970,648
Ensembl chr 3:89,958,943...89,970,648

G

RIKEN cDNA A130010J15 gene

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:192,855,777...192,860,145
Ensembl chr 1:192,850,354...192,860,140

G

expressed sequence AA986860

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,659,707...130,672,359
Ensembl chr 1:130,659,713...130,672,359

G

aminoadipate-semialdehyde dehydrogenase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 5:77,021,506...77,053,376
Ensembl chr 5:77,021,506...77,053,361

G

ATP-binding cassette, sub-family B member 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:124,679,198...124,709,877
Ensembl chr 8:124,679,198...124,709,861

G

ABL proto-oncogene 2, non-receptor tyrosine kinase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:156,386,160...156,477,189
Ensembl chr 1:156,386,356...156,477,138

G

acyl-Coenzyme A binding domain containing 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:180,553,608...180,581,769
Ensembl chr 1:180,553,608...180,581,769

G

acyl-Coenzyme A binding domain containing 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:155,433,845...155,564,120
Ensembl chr 1:155,433,866...155,567,076

G

atypical chemokine receptor 1 (Duffy blood group)

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:173,159,457...173,161,079
Ensembl chr 1:173,159,453...173,161,317

G

acid phosphatase 6, lysophosphatidic

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:97,066,070...97,083,892
Ensembl chr 3:97,066,093...97,084,615

G

actin alpha 1, skeletal muscle

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:124,618,497...124,621,514
Ensembl chr 8:124,618,508...124,621,490

G

actinin alpha 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr13:12,284,312...12,355,613
Ensembl chr13:12,284,312...12,355,641

G

ADAM metallopeptidase domain 15

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:89,246,947...89,257,589
Ensembl chr 3:89,245,849...89,257,303

G

ADAM metallopeptidase with thrombospondin type 1 motif 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:171,077,698...171,089,836
Ensembl chr 1:171,077,990...171,088,206

G

ADAMTS-like 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:95,583,511...95,595,232
Ensembl chr 3:95,583,511...95,595,228

G

adenosine deaminase, RNA-specific

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753

G

adenylate cyclase 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:165,309,114...165,404,347
Ensembl chr 1:165,312,752...165,404,343

G

adiponectin receptor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,343,116...134,361,089
Ensembl chr 1:134,343,116...134,361,089

G

adenosine A1 receptor

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,126,953...134,163,195
Ensembl chr 1:134,126,963...134,163,169

G

adenylosuccinate synthase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,590,742...177,624,064
Ensembl chr 1:177,590,528...177,624,077

G

angiotensinogen

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445

G

AT hook containing transcription factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,572,469...179,631,580
Ensembl chr 1:179,572,459...179,631,245

G

axin interactor, dorsalization associated

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:183,078,604...183,105,356
Ensembl chr 1:183,078,134...183,106,331

G

absent in melanoma 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:173,177,105...173,293,606
Ensembl chr 1:173,178,445...173,293,606

G

thymoma viral proto-oncogene 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,847,642...177,091,688
Ensembl chr 1:176,847,639...177,085,769

G

aldehyde dehydrogenase 9, subfamily A1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:167,177,560...167,196,100
Ensembl chr 1:167,177,560...167,196,101

G

angel homolog 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:190,657,305...190,679,160
Ensembl chr 1:190,657,309...190,679,159

G

angiopoietin-like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:156,666,495...156,688,648
Ensembl chr 1:156,666,132...156,688,648

G

ankyrin repeat domain 34A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:96,503,599...96,507,442
Ensembl chr 3:96,503,952...96,507,091

G

ankyrin repeat domain 35

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:96,577,447...96,598,350
Ensembl chr 3:96,577,447...96,598,348

G

ankyrin repeat domain 45

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:160,970,017...160,998,077
Ensembl chr 1:160,970,261...160,998,068

G

acidic nuclear phosphoprotein 32 family member E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:95,836,557...95,854,699
Ensembl chr 3:95,836,558...95,854,702

G

annexin A9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:95,203,404...95,222,491
Ensembl chr 3:95,203,407...95,214,487

G

APC, WNT signaling pathway regulator

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 chr18:34,353,350...34,455,243
Ensembl chr18:34,353,977...34,455,605

G

amyloid P component, serum

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,721,528...172,722,516
Ensembl chr 1:172,721,528...172,722,608

G

aph1 homolog A, gamma secretase subunit

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:95,801,233...95,805,904
Ensembl chr 3:95,801,281...95,805,600

G

apolipoprotein A-II

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:171,049,133...171,053,948
Ensembl chr 1:171,052,623...171,053,948

G

apolipoprotein B mRNA editing enzyme catalytic polypeptide-like 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:152,626,302...152,633,295
Ensembl chr 1:152,626,302...152,633,295

G

aquaporin 10, pseudogene

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:89,870,751...89,877,041
Ensembl chr 3:89,872,016...89,875,998

G

ARF GTPase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr11:59,102,237...59,119,042
Ensembl chr11:59,102,238...59,119,096

G

Rho GTPase activating protein 30

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:171,216,528...171,237,808
Ensembl chr 1:171,216,522...171,237,866

G

Rho guanine nucleotide exchange factor 11

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:87,524,855...87,645,346
Ensembl chr 3:87,524,866...87,645,341

G

Rho/Rac guanine nucleotide exchange factor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:88,500,427...88,556,839
Ensembl chr 3:88,513,273...88,555,359

G

AT-rich interaction domain 4B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr13:14,238,334...14,374,188
Ensembl chr13:14,237,817...14,374,188

G

ADP-ribosylation factor-like 8A

ClinVar Annotator: match by term: Gastrointestinal stroma tumor

NCBI chr 1:135,074,572...135,084,007
Ensembl chr 1:135,074,562...135,084,007

G

ADP-ribosylation factor-like 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 5:77,146,054...77,158,806
Ensembl chr 5:77,151,902...77,158,453

G

aryl hydrocarbon receptor nuclear translocator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:95,341,674...95,404,551
Ensembl chr 3:95,341,699...95,404,551

G

actin related protein 2/3 complex, subunit 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:152,642,293...152,651,331
Ensembl chr 1:152,642,293...152,651,348

G

ARV1 homolog, fatty acid homeostasis modulator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:125,448,765...125,469,533
Ensembl chr 8:125,448,878...125,460,862

G

achaete-scute family bHLH transcription factor 5

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,978,321...135,979,810
Ensembl chr 1:135,978,542...135,979,108

G

ASH1 like histone lysine methyltransferase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:88,857,721...88,986,682
Ensembl chr 3:88,857,929...88,986,682

G

astrotactin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:158,189,647...158,519,351
Ensembl chr 1:158,189,843...158,519,351

G

activating transcription factor 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:190,902,493...190,915,530
Ensembl chr 1:190,902,493...190,950,236

G

activating transcription factor 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:170,532,026...170,696,414
Ensembl chr 1:170,532,243...170,695,340

G

ATPase, Na+/K+ transporting, alpha 2 polypeptide

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631

G

ATPase, Na+/K+ transporting, alpha 4 polypeptide

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,051,075...172,085,991
Ensembl chr 1:172,051,080...172,085,981

G

ATPase, Na+/K+ transporting, beta 1 polypeptide

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:164,264,668...164,285,924
Ensembl chr 1:164,264,678...164,285,924

G

ATPase, Ca++ transporting, plasma membrane 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:133,630,416...133,728,755
Ensembl chr 1:133,627,195...133,728,779

G

ATPase, H+ transporting, lysosomal V1 subunit G3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:138,201,476...138,217,200
Ensembl chr 1:138,201,476...138,217,200

G

ATPase, class I, type 8B, member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:89,846,795...89,870,645
Ensembl chr 3:89,846,788...89,870,815

G

arginine vasopressin receptor 1B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,526,908...131,539,740
Ensembl chr 1:131,526,977...131,539,738

G

axonemal dynein light chain domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:156,157,985...156,248,743
Ensembl chr 1:156,151,079...156,248,729

G

UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr13:14,129,059...14,173,688
Ensembl chr13:14,129,054...14,173,688

G

UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:143,516,435...143,525,675
Ensembl chr 1:143,516,402...143,530,352

G

UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:171,097,898...171,104,468
Ensembl chr 1:171,097,898...171,104,469

G

B9 protein domain 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:61,395,970...61,403,757
Ensembl chr11:61,395,970...61,403,757

G

BCL2-associated athanogene 6

disease_progression

RGD

NCBI chr17:35,354,132...35,366,297
Ensembl chr17:35,354,154...35,366,298

G

basic leucine zipper transcription factor, ATF-like 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:190,830,611...190,841,140
Ensembl chr 1:190,830,044...190,841,142

G

cDNA sequence BC028528

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:95,789,665...95,800,186
Ensembl chr 3:95,791,266...95,799,317

G

cDNA sequence BC034090

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:155,088,217...155,123,504
Ensembl chr 1:155,088,217...155,120,190

G

brevican

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:87,894,839...87,908,458
Ensembl chr 3:87,894,838...87,907,537

G

B cell CLL/lymphoma 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:97,110,974...97,205,718
Ensembl chr 3:97,110,978...97,205,233

G

bone gamma carboxyglutamate protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:88,290,802...88,291,773
Ensembl chr 3:88,290,808...88,291,771

G

basic leucine zipper nuclear factor 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:164,117,368...164,135,056
Ensembl chr 1:164,117,369...164,135,058

G

BCL2/adenovirus E1B 19kD interacting protein like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:95,148,587...95,158,504
Ensembl chr 3:95,148,582...95,158,504

G

BOC cell adhesion associated, oncogene regulated

CTD Direct Evidence: marker/mechanism

NCBI chr16:44,305,408...44,379,233
Ensembl chr16:44,305,412...44,379,260

G

bolA family member 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:96,103,899...96,107,724
Ensembl chr 3:96,103,904...96,127,025

G

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

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:185,061,619...185,089,974
Ensembl chr 1:185,064,346...185,089,974

G

Braf transforming gene

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 chr 6:39,580,171...39,702,592
Ensembl chr 6:39,580,171...39,702,397

G

bone morphogenic protein/retinoic acid inducible neural-specific 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:158,072,835...158,185,096
Ensembl chr 1:158,072,839...158,183,896

G

bone morphogenetic protein/retinoic acid inducible neural specific 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:146,371,367...146,778,210
Ensembl chr 1:146,370,498...146,778,210

G

BRO1 domain and CAAX motif containing

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:183,057,916...183,078,839
Ensembl chr 1:183,057,916...183,078,813

G

BTG anti-proliferation factor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,002,603...134,006,893
Ensembl chr 1:134,002,908...134,006,858

G

butyrophilin-like 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr11:58,808,703...58,817,791
Ensembl chr11:58,808,734...58,817,984

G

RIKEN cDNA C130074G19 gene

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:184,604,123...184,615,233
Ensembl chr 1:184,604,123...184,615,415

G

C2 calcium-dependent domain containing 3

CTD Direct Evidence: marker/mechanism

NCBI chr 7:100,021,440...100,119,366
Ensembl chr 7:100,021,440...100,119,359

G

C2 calcium-dependent domain containing 4D

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:94,269,720...94,271,874
Ensembl chr 3:94,269,745...94,271,873

G

calcium channel, voltage-dependent, R type, alpha 1E subunit

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:154,266,552...154,760,374
Ensembl chr 1:154,266,477...154,760,247

G

calcium channel, voltage-dependent, L type, alpha 1S subunit

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,980,549...136,047,268
Ensembl chr 1:135,980,488...136,047,560

G

calcyclin binding protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:160,029,171...160,040,391
Ensembl chr 1:160,029,937...160,040,445

G

cell adhesion molecule 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:173,161,825...173,195,214
Ensembl chr 1:173,160,825...173,195,261

G

calcium/calmodulin-dependent protein kinase I gamma

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:193,028,654...193,052,636
Ensembl chr 1:193,028,654...193,052,606

G

calmodulin regulated spectrin-associated protein family, member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,195,861...136,273,855
Ensembl chr 1:136,195,861...136,273,842

G

calpain 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,294,818...182,345,175
Ensembl chr 1:182,294,825...182,345,173

G

calpain 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,392,314...182,462,021
Ensembl chr 1:182,392,572...182,459,917

G

calpain 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:125,301,361...125,345,470
Ensembl chr 8:125,302,850...125,345,470

G

carbonic anhydrase 14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:95,805,080...95,812,443
Ensembl chr 3:95,805,080...95,812,003

G

calsequestrin 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,037,461...172,047,462
Ensembl chr 1:172,037,461...172,047,435

G

cation channel sperm associated auxiliary subunit epsilon 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:177,810,724...178,000,273
Ensembl chr 1:177,810,989...178,000,271

G

coiled-coil and C2 domain containing 2A

CTD Direct Evidence: marker/mechanism

NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314

G

coiled-coil domain containing 181

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:164,103,126...164,115,416
Ensembl chr 1:164,103,154...164,115,416

G

coiled-coil domain containing 185

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,574,691...182,576,745
Ensembl chr 1:182,574,691...182,576,745

G

coiled-coil domain containing 190

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:169,756,172...169,764,816
Ensembl chr 1:169,756,217...169,762,222

G

centriole, cilia and spindle associated protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:124,566,712...124,586,948
Ensembl chr 8:124,567,570...124,586,948

G

chaperonin containing TCP1 subunit 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:88,204,442...88,229,073
Ensembl chr 3:88,204,423...88,229,074

G

CD160 antigen

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:96,706,079...96,736,667
Ensembl chr 3:96,706,079...96,736,667

G

CD1d1 antigen

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:86,903,141...86,919,665
Ensembl chr 3:86,903,141...86,906,748

G

CD244 molecule A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:171,386,761...171,412,884
Ensembl chr 1:171,386,761...171,437,314

G

CD247 antigen

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:165,607,514...165,698,722
Ensembl chr 1:165,616,250...165,704,846

G

CD34 antigen

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:194,621,239...194,643,587
Ensembl chr 1:194,621,127...194,643,587

G

CD3 antigen, epsilon polypeptide

CTD Direct Evidence: marker/mechanism

NCBI chr 9:44,910,033...44,920,961
Ensembl chr 9:44,910,038...44,920,925

G

CD46 antigen, complement regulatory protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:194,721,279...194,781,149
Ensembl chr 1:194,719,134...194,774,557

G

CD48 antigen

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:171,508,989...171,532,825
Ensembl chr 1:171,509,577...171,532,826

G

CD55 molecule, decay accelerating factor for complement

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:130,357,526...130,390,513
Ensembl chr 1:130,366,764...130,390,481

G

CD5 antigen-like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:87,265,188...87,278,381
Ensembl chr 3:87,265,188...87,278,380

G

CD84 antigen

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:171,667,261...171,718,288
Ensembl chr 1:171,667,265...171,718,285

G

CDC42 binding protein kinase alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,787,058...179,993,171
Ensembl chr 1:179,788,037...179,993,168

G

CDC42 small effector 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:95,135,735...95,143,735
Ensembl chr 3:95,136,043...95,143,720

G

cell division cycle 73, Paf1/RNA polymerase II complex component

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:143,479,014...143,578,631
Ensembl chr 1:143,474,538...143,578,631

G

cyclin dependent kinase 18

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,041,285...132,067,433
Ensembl chr 1:132,039,975...132,067,422

G

cell adhesion molecule-related/down-regulated by oncogenes

CTD Direct Evidence: marker/mechanism

NCBI chr 9:35,332,836...35,418,948
Ensembl chr 9:35,332,424...35,418,948

G

CUGBP, Elav-like family member 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:94,385,581...94,405,822
Ensembl chr 3:94,385,602...94,399,505

G

centromere protein F

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:189,372,803...189,420,302
Ensembl chr 1:189,372,803...189,420,283

G

centromere protein L

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:160,898,337...160,914,294
Ensembl chr 1:160,898,283...160,914,294

G

centrosomal protein 135

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 5:76,736,495...76,794,313
Ensembl chr 5:76,736,545...76,794,313

G

centrosomal protein 170

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:176,556,638...176,641,545
Ensembl chr 1:176,561,219...176,641,633

G

centrosomal protein 350

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:155,720,710...155,848,976
Ensembl chr 1:155,720,710...155,849,001

G

ceramide synthase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:95,222,077...95,230,910
Ensembl chr 3:95,222,102...95,230,910

G

cilia and flagella associated protein 126

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:170,941,326...170,954,525
Ensembl chr 1:170,941,487...170,954,536

G

cilia and flagella associated protein 141

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:89,970,115...89,975,654
Ensembl chr 3:89,970,103...89,973,182

G

cilia and flagella associated protein 45

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,348,697...172,373,437
Ensembl chr 1:172,348,368...172,373,437

G

complement component factor h

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:140,013,593...140,111,149
Ensembl chr 1:140,012,446...140,111,502

G

complement factor H-related 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:139,474,802...139,487,960
Ensembl chr 1:139,474,791...139,488,010

G

complement factor H-related 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:139,738,030...139,786,437
Ensembl chr 1:139,731,905...139,786,456

G

complement factor H-related 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:139,625,657...139,708,977
Ensembl chr 1:139,625,361...139,708,981

G

cingulin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:94,667,376...94,695,036
Ensembl chr 3:94,667,376...94,693,826

G

chromodomain helicase DNA binding protein 1-like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:97,468,056...97,517,538
Ensembl chr 3:97,468,058...97,517,519

G

chitinase 3 like 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,109,894...134,117,769
Ensembl chr 1:134,109,914...134,117,919

G

chitinase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,038,980...134,079,279
Ensembl chr 1:134,038,980...134,079,278

G

choroideremia-like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:175,509,803...175,520,198
Ensembl chr 1:175,509,803...175,520,467

G

cholinergic receptor, muscarinic 3, cardiac

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr13:9,925,522...10,411,131
Ensembl chr13:9,925,522...10,410,883

G

cholinergic receptor nicotinic beta 2 subunit

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:89,660,755...89,671,939
Ensembl chr 3:89,653,502...89,671,939

G

chromatin target of PRMT1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:90,405,846...90,417,400
Ensembl chr 3:90,406,263...90,416,805

G

circadian associated repressor of transcription

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:95,785,812...95,790,012
Ensembl chr 3:95,785,815...95,789,563

G

CDC28 protein kinase 1b

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:89,322,779...89,325,598
Ensembl chr 3:89,322,779...89,325,690

G

CDC-like kinase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:89,072,102...89,084,394
Ensembl chr 3:89,072,102...89,084,228

G

clock circadian regulator

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 5:76,357,715...76,452,675
Ensembl chr 5:76,357,715...76,452,639

G

cornichon family AMPA receptor auxiliary protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,178,024...181,288,059
Ensembl chr 1:181,180,193...181,288,206

G

cornichon family AMPA receptor auxiliary protein 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:180,977,437...180,996,559
Ensembl chr 1:180,972,258...180,996,559

G

consortin, connexin sorting protein

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,374,009...179,455,043
Ensembl chr 1:179,373,935...179,455,043

G

contactin 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,437,163...132,470,989
Ensembl chr 1:132,437,165...132,470,994

G

cytochrome c oxidase assembly factor 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:127,149,267...127,152,174
Ensembl chr 8:127,149,254...127,152,172

G

component of oligomeric golgi complex 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:125,247,506...125,278,747
Ensembl chr 8:125,247,506...125,278,747

G

collagen beta(1-O)galactosyltransferase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:152,275,485...152,386,942
Ensembl chr 1:152,275,581...152,386,446

G

COP1, E3 ubiquitin ligase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:159,059,734...159,182,442
Ensembl chr 1:159,059,890...159,175,210

G

coatomer protein complex subunit alpha

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:171,909,885...171,949,899
Ensembl chr 1:171,910,096...171,949,897

G

coenzyme Q8A

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:179,992,803...180,023,585
Ensembl chr 1:179,992,803...180,027,167

G

cytochrome c oxidase assembly protein 20

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,146,379...178,150,258
Ensembl chr 1:178,146,695...178,150,258

G

complement C3b/C4b receptor 1 like

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:194,781,019...194,813,878
Ensembl chr 1:194,779,690...194,813,894

G

complement receptor 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:194,819,120...194,859,096
Ensembl chr 1:194,819,119...194,859,024

G

cellular retinoic acid binding protein II

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:87,856,000...87,860,679
Ensembl chr 3:87,855,973...87,860,683

G

capping protein inhibiting regulator of actin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

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

NCBI chr 5:76,803,225...77,021,393
Ensembl chr 5:76,804,359...77,021,392

G

crumbs family member 1, photoreceptor morphogenesis associated

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838

G

cysteine-rich C-terminal 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:92,921,512...92,922,993
Ensembl chr 3:92,921,512...92,922,994

G

cAMP responsive element binding protein 3-like 4

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:90,144,805...90,161,387
Ensembl chr 3:90,144,807...90,150,819

G

cellular repressor of E1A-stimulated genes 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:165,591,327...165,602,878
Ensembl chr 1:165,591,315...165,602,877

G

cornulin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:93,052,096...93,057,125
Ensembl chr 3:93,052,094...93,057,126

G

C-reactive protein, pentraxin-related

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,525,623...172,527,533
Ensembl chr 1:172,525,622...172,660,598

G

CREB regulated transcription coactivator 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:90,161,475...90,171,432
Ensembl chr 3:90,161,470...90,171,432

G

colony stimulating factor 1 receptor

DNA:mutation:exon 9: (human)

RGD

NCBI chr18:61,238,644...61,264,211
Ensembl chr18:61,233,670...61,265,221

G

cysteine and glycine-rich protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:135,614,650...135,679,970
Ensembl chr 1:135,647,799...135,679,970

G

catenin alpha 1

CTD Direct Evidence: marker/mechanism

NCBI chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832

G

cathepsin E

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,566,052...131,603,245
Ensembl chr 1:131,566,044...131,603,243

G

cathepsin K

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:95,406,521...95,416,698
Ensembl chr 3:95,406,567...95,416,673

G

cathepsin S

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:95,434,097...95,463,716
Ensembl chr 3:95,434,097...95,463,714

G

cytochrome b5 reductase 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:134,333,519...134,339,476
Ensembl chr 1:134,333,297...134,339,478

G

death associated protein 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:88,828,110...88,858,504
Ensembl chr 3:88,828,110...88,858,488

G

aspartyl-tRNA synthetase 2 (mitochondrial)

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:160,868,171...160,898,236
Ensembl chr 1:160,868,171...160,898,228

G

DDB1 and CUL4 associated factor 6

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:165,157,069...165,288,475
Ensembl chr 1:165,156,267...165,288,044

G

DDB1 and CUL4 associated factor 8

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:171,975,574...172,023,959
Ensembl chr 1:171,975,651...172,024,572

G

DC-STAMP domain containing 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:89,257,526...89,272,560
Ensembl chr 3:89,257,526...89,272,560

G

DC-STAMP domain containing 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:89,257,724...89,284,950
Ensembl chr 3:89,269,282...89,284,856

G

discoidin domain receptor family, member 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:169,799,874...169,938,525
Ensembl chr 1:169,799,876...169,938,331

G

DEAD box helicase 59

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:136,343,009...136,384,019
Ensembl chr 1:136,343,009...136,367,896

G

death effector domain-containing

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:171,152,229...171,170,843
Ensembl chr 1:171,156,713...171,169,899

G

delta 4-desaturase, sphingolipid 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:182,103,529...182,110,366
Ensembl chr 1:182,103,337...182,110,369

G

DENN domain containing 1B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:138,891,447...139,103,781
Ensembl chr 1:138,891,173...139,106,698

G

DENN domain containing 4B

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:90,172,281...90,187,972
Ensembl chr 3:90,172,492...90,187,976

G

desumoylating isopeptidase 2

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:178,014,983...178,080,164
Ensembl chr 1:178,014,983...178,084,867

G

dihydrofolate reductase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

PMID:25227144 PMID:28492532

NCBI chr13:92,491,291...92,525,561
Ensembl chr13:92,491,234...92,525,561

G

DExH-box helicase 9

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:153,331,506...153,363,464
Ensembl chr 1:153,331,504...153,363,406

G

disrupted in schizophrenia 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 8:125,773,928...125,991,882
Ensembl chr 8:125,780,934...125,988,597

G

dispatched RND transporter family member 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gastrointestinal stromal tumor

PMID:27793025 PMID:28492532

NCBI chr 1:182,867,828...183,010,257
Ensembl chr 1:182,867,830...183,003,086

G

dystrophin, muscular dystrophy

CTD Direct Evidence: marker/mechanism

NCBI chr X:81,858,244...84,248,656
Ensembl chr X:81,992,476...84,249,747

G

dynein, axonemal, heavy chain 14

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:181,404,158...181,642,306
Ensembl chr 1:181,404,124...181,643,339

G

dynamin 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:161,810,022...162,305,890
Ensembl chr 1:161,810,022...162,305,603

G

dynamin 3, opposite strand

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:162,045,192...162,053,119
Ensembl chr 1:162,045,192...162,053,119

G

dolichyl-phosphate mannosyltransferase polypeptide 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:89,166,567...89,174,386
Ensembl chr 3:89,166,665...89,174,386

G

dermatopontin

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:164,624,232...164,651,843
Ensembl chr 1:164,624,213...164,651,835

G

dual serine/threonine and tyrosine protein kinase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:132,345,127...132,394,697
Ensembl chr 1:132,345,293...132,394,696

G

denticleless E3 ubiquitin protein ligase

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:191,269,468...191,307,656
Ensembl chr 1:191,269,468...191,307,656

G

dual specificity phosphatase 10

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:183,766,575...183,807,833
Ensembl chr 1:183,745,499...183,807,833

G

dual specificity phosphatase 12

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:170,701,756...170,713,109
Ensembl chr 1:170,701,067...170,713,109

G

dual specificity phosphatase 23

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:172,458,336...172,460,504
Ensembl chr 1:172,458,331...172,460,529

G

dual-specificity tyrosine phosphorylation regulated kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:118,691,507...118,725,144
Ensembl chr10:118,691,508...118,706,114

G

dual-specificity tyrosine phosphorylation regulated kinase 3

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 1:131,056,178...131,065,991
Ensembl chr 1:131,055,192...131,066,077

G

extracellular matrix protein 1

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr 3:95,641,459...95,646,880
Ensembl chr 3:95,641,459...95,646,881

G

EDAR associated via death domain

ClinVar Annotator: match by term: Gastrointestinal stromal tumor

NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319