organ system benign neoplasm - Ontology Report - Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

RGD DISEASE ONTOLOGY - ANNOTATIONS

{{ watchLinkText }}

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:	organ system benign neoplasm	go back to main search page
Accession:	DOID:0060085	browse the term
Definition:	A benign neoplasm that is classified by the organ system from which it is arising from. (DO)
Synonyms:	alt_id:	DOID:1789

show annotations for term's descendants Sort by:
Rat (1482) Mouse (1332) Human (13586) Chinchilla (1174) Bonobo (1254) Dog (1259) Squirrel (1189) Pig (1240) Green Monkey (1226) Naked Mole-rat (1171) All
Genes (1254)

Abdominal Fibromatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

acoustic neuroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

artemin

mRNA:increased expression:peripheral nerve:

NCBI chr 1:43,233,097...43,239,044

G

brain derived neurotrophic factor

mRNA:increased expression:peripheral nerve:

NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239

G

caveolin 1

NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655

G

cyclin dependent kinase inhibitor 1A

mRNA,protein:decreased expression:myelinated nerve:

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

cytochrome P450 family 2 subfamily E member 1

DNA:snp:promoter:c.-1053C>T (human)

Ensembl chr10:134,839,025...134,852,719

G

ERCC excision repair 2, TFIIH core complex helicase subunit

susceptibility

DNA:missense mutation:cds:p.D312N (rs1799793) (human)

NCBI chr19:42,298,927...42,319,816
Ensembl chr19:50,897,004...50,915,819

G

fibroblast growth factor receptor 1

disease_progression

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

G

glial cell derived neurotrophic factor

mRNA:increased expression:peripheral nerve:

NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362

G

insulin like growth factor 1

susceptibility

protein:increased expression:serum:

NCBI chr12:99,986,887...100,066,773
Ensembl chr12:103,385,911...103,462,177

G

insulin like growth factor binding protein 3

susceptibility

protein:increased expression:serum:

NCBI chr 7:46,564,234...46,573,145

G

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

protein:decreased expression:myelinated nerve:

NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013

G

vascular endothelial growth factor A

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

ACTH-secreting pituitary adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl hydrocarbon receptor interacting protein

ClinVar Annotator: match by term: Pituitary adenoma, acth-secreting, somatic

PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 More...

NCBI chr11:62,841,377...62,849,664
Ensembl chr11:66,152,670...66,160,898

G

arginine vasopressin receptor 1B

NCBI chr 1:181,713,548...181,723,645
Ensembl chr 1:185,999,627...186,007,043

G

bone morphogenetic protein 4

CTD Direct Evidence: marker/mechanism

NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752

G

ubiquitin specific peptidase 8

NCBI chr15:29,374,945...29,451,235
Ensembl chr15:47,713,997...47,790,624

adrenal cortical adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase Na+/K+ transporting subunit alpha 1

ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma

NCBI chr 1:86,162,401...86,193,883
Ensembl chr 1:121,212,488...121,243,099

G

ATPase plasma membrane Ca2+ transporting 3

ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma

NCBI chr X:143,068,171...143,133,479
Ensembl chr X:152,955,109...153,019,445

G

cytochrome P450 family 11 subfamily B member 1

mRNA:decreased expression:adrenal gland (human)

NCBI chr 8:139,584,976...139,592,466
Ensembl chr 8:142,629,127...142,634,654

G

cytochrome P450 family 11 subfamily B member 2

mRNA:increased expression:adrenal gland (human)

NCBI chr 8:139,622,632...139,630,014
Ensembl chr 8:142,666,534...142,672,575

G

menin 1

ClinVar Annotator: match by term: Adrenocortical adenoma

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

protein kinase cAMP-activated catalytic subunit alpha

associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human)

NCBI chr19:13,657,344...13,683,864
Ensembl chr19:14,385,191...14,406,205

G

protein kinase cAMP-activated catalytic subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 1:116,625,640...116,786,396
Ensembl chr 1:85,487,681...85,644,253

adrenal gland pheochromocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

kinesin family member 1B

ClinVar Annotator: match by term: Adrenal gland pheochromocytoma

NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577
Ensembl chr 1:10,198,997...10,364,577

adult pineal parenchymal tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

marker of proliferation Ki-67

severity

NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555

Aggressive Fibromatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

cellular communication network factor 2

mRNA:increased expression:tumor (human)

NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077

G

catenin beta 1

ClinVar Annotator: match by term: Aggressive fibromatosis

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

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

serpin family E member 1

susceptibility

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

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

tumor necrosis factor

CTD Direct Evidence: therapeutic

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

alveolar rhabdomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box O1

NCBI chr13:21,763,729...21,874,279

G

paired box 3

ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma

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

NCBI chr2B:109,441,938...109,541,449
Ensembl chr2B:228,022,453...228,121,874

G

paired box 7

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

PMID:25741868 PMID:31092906 PMID:32214227

NCBI chr 1:17,589,513...17,707,442
Ensembl chr 1:18,639,641...18,756,952

G

tumor protein p73

CTD Direct Evidence: marker/mechanism

NCBI chr 1:2,323,399...2,405,295
Ensembl chr 1:3,476,064...3,529,206

G

WW domain containing transcription regulator 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:146,536,564...146,678,847
Ensembl chr 3:154,114,034...154,254,490

alveolar soft part sarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ASPSCR1 tether for SLC2A4, UBX domain containing

NCBI chr17:76,381,000...76,422,189
Ensembl chr17:82,084,873...82,127,492

ameloblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

smoothened, frizzled class receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048

angiokeratoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

galactosidase alpha

CTD Direct Evidence: therapeutic

NCBI chr X:90,600,412...90,610,594
Ensembl chr X:100,732,311...100,742,280

G

alpha-N-acetylgalactosaminidase

Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W

NCBI chr22:22,951,723...22,964,278
Ensembl chr22:41,035,622...41,046,431

Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ankyrin repeat and IBR domain containing 1

ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas

NCBI chr 7:84,243,929...84,399,358
Ensembl chr 7:97,841,233...97,995,816

G

KRIT1 ankyrin repeat containing

ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas

PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895

Angiomatoid Fibrous Histiocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cAMP responsive element binding protein 1

NCBI chr2B:94,762,796...94,836,304
Ensembl chr2B:212,891,261...212,958,130

anogenital venereal wart

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 20

protein:decreased expression:skin

NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225

G

CD8 subunit alpha

mRNA:decreased expression:zone of skin (human)

NCBI chr2A:86,832,559...86,855,772
Ensembl chr2A:88,377,722...88,382,635

G

cytotoxic T-lymphocyte associated protein 4

mRNA,protein:increased expression:multiple (human)

NCBI chr2B:91,054,917...91,106,234
Ensembl chr2B:209,239,417...209,244,498

G

forkhead box P3

mRNA,protein:increased expression:multiple (human)

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

G

interferon alpha 6

treatment

NCBI chr 9:21,211,046...21,211,734
Ensembl chr 9:21,828,719...21,829,288

G

interleukin 10

mRNA,protein:increased expression:multiple (human)

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 12B

treatment

protein:decreased expression:peripheral blood mononuclear cells (human)

PMID:16114559 PMID:23754510

RGD:40400714 RGD:7829774

NCBI chr 5:154,706,467...154,722,231
Ensembl chr 5:161,325,303...161,335,381

G

interleukin 2

protein:decreased expression:peripheral blood mononuclear cells (human)

NCBI chr 4:114,637,328...114,642,586
Ensembl chr 4:125,782,563...125,787,984

G

interleukin 21

protein:decreased expression:blood serum (human)

NCBI chr 4:114,795,979...114,806,936
Ensembl chr 4:125,943,495...125,951,915

G

interleukin 4

treatment

protein:increased expression:peripheral blood mononuclear cells (human)

PMID:16114559 PMID:23754510

RGD:40400714 RGD:7829774

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

interleukin 6

protein:decreased expression:peripheral blood mononuclear cells (human)

NCBI chr 7:23,415,922...23,420,767

G

killer cell lectin like receptor K1

mRNA,protein:decreased expression:multiple (human)

NCBI chr12:10,411,932...10,429,256
Ensembl chr12:10,662,424...10,699,078

G

mitogen-activated protein kinase 8

treatment

mRNA:increased expression:zone of skin (human)

NCBI chr10:45,806,748...45,936,362

G

MYD88 innate immune signal transduction adaptor

mRNA,protein:increased expression:multiple (human)

NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572

G

natural cytotoxicity triggering receptor 1

mRNA,protein:decreased expression:multiple (human)

NCBI chr19:51,951,496...51,957,433
Ensembl chr19:60,645,677...60,652,274

G

programmed cell death 1

mRNA,protein:increased expression:multiple (human)

NCBI chr12:130,849,353...130,858,776

G

protein tyrosine phosphatase non-receptor type 11

protein:increased expression:foreskin

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

protein tyrosine phosphatase non-receptor type 6

protein:increased expression:foreskin

NCBI chr12:7,075,879...7,093,041
Ensembl chr12:6,991,099...7,008,830

G

serpin family F member 1

disease_progression

mRNA, protein:decreased expression:skin of body (human)

NCBI chr17:1,745,597...1,761,399
Ensembl chr17:1,638,556...1,653,568

G

transforming growth factor beta 1

mRNA,protein:increased expression:multiple (human)

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

toll like receptor 2

mRNA,protein:increased expression:multiple (human)

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

G

toll like receptor 3

mRNA,protein:increased expression:multiple (human)

NCBI chr 4:178,238,352...178,256,264
Ensembl chr 4:190,446,487...190,462,728

G

toll like receptor 4

mRNA,protein:increased expression:multiple (human)

NCBI chr 9:88,827,495...88,840,458
Ensembl chr 9:117,180,550...117,190,711

G

toll like receptor 7

mRNA,protein:increased expression:multiple (human)

NCBI chr X:5,479,247...5,504,810
Ensembl chr X:12,767,981...12,790,517

G

toll like receptor 8

mRNA,protein:increased expression:multiple (human)

NCBI chr X:5,518,742...5,535,304

G

tumor necrosis factor

protein:increased expression:peripheral blood mononuclear cells (human)

NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381

G

TNF receptor superfamily member 18

mRNA,protein:increased expression:multiple (human)

anus benign neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon beta 1

CTD Direct Evidence: therapeutic

PMID:12170190 PMID:12397731

NCBI chr 9:20,884,742...20,886,317

appendiceal neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

death domain associated protein

DNA:CNV: (human)

NCBI chr 6:32,890,846...32,895,307
Ensembl chr 6:34,004,543...34,008,717

G

nucleosome assembly protein 1 like 1

severity

mRNA:increased expression:appendix, mucosa (human)

NCBI chr12:73,549,887...73,589,621
Ensembl chr12:76,402,906...76,441,815

Arteriovenous Fistula

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

treatment

protein:increased activity:heart left ventricle (rat)

PMID:8386093 PMID:22768235

RGD:12859285 RGD:12880017

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

atypical chemokine receptor 1 (Duffy blood group)

NCBI chr 1:134,554,406...134,557,386
Ensembl chr 1:138,352,086...138,354,733

G

angiopoietin 2

mRNA:increased expression:lung (rat)

NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915

G

arrestin beta 1

mRNA, protein:altered expression:left ventricle (rat)

NCBI chr11:70,319,935...70,411,276
Ensembl chr11:73,630,276...73,654,155

G

arrestin beta 2

mRNA, protein:altered expression:left ventricle (rat)

NCBI chr17:4,766,616...4,777,253
Ensembl chr17:4,757,048...4,767,517

G

collagen type I alpha 1 chain

in Long Evans rats;mRNA:increased expression:aorta

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

desmin

NCBI chr2B:106,675,761...106,684,129
Ensembl chr2B:225,266,261...225,273,604

G

fibroblast growth factor 2

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

G

matrix metallopeptidase 2

treatment

protein:increased expression:ileal vein

PMID:17398390 PMID:23924957

RGD:13204800 RGD:1642040

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 9

treatment

PMID:17398390 PMID:23924957

RGD:13204800 RGD:1642040

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

nitric oxide synthase 3

protein:increased expression:vena cava

NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233

G

retinol binding protein 4

exacerbates

protein:increased expression:blood serum (human)

NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887

G

TIMP metallopeptidase inhibitor 4

protein:decreased expression:ileal vein

NCBI chr 3:12,079,195...12,087,485
Ensembl chr 3:12,425,429...12,433,192

G

vascular endothelial growth factor A

protein:increased expression:brain cortex, brain dura mater:

PMID:10541235 PMID:24626343

RGD:8551823 RGD:8655590

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

arteriovenous malformation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor like type 1

NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691

G

endoglin

susceptibility

associated with Telangiectasia, Hereditary Hemorrhagic;

PMID:8728706 PMID:24520391

RGD:11041184 RGD:11041564

NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641

G

EPH receptor B4

ClinVar Annotator: match by term: Arteriovenous malformation

PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892

NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022

G

glomulin, FKBP associated protein

glomuvenous malformations

NCBI chr 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430

G

microtubule associated protein 2

protein:decreased expression:hippocampus

NCBI chr2B:96,681,268...96,991,650
Ensembl chr2B:215,314,857...215,391,728

G

matrix metallopeptidase 9

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

RAS p21 protein activator 1

CTD Direct Evidence: marker/mechanism

PMID:14639529 PMID:15917201

NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321

G

TEK receptor tyrosine kinase

susceptibility

DNA:missense mutation: :p.R849W

NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572

arteriovenous malformations of the brain

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

activin A receptor like type 1

OMIM:108010

NCBI chr12:36,839,869...36,856,351
Ensembl chr12:37,615,888...37,631,691

G

adhesion G protein-coupled receptor V1

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation

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

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

calcium voltage-gated channel subunit alpha1 H

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

PMID:25741868 PMID:28492532

Ensembl chr16:1,195,364...1,222,917

G

cadherin 2

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr18:21,210,001...21,435,919
Ensembl chr18:24,812,019...25,008,325

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

endoglin

disease_progression

DNA:polymorphism: : 207G>A(human)
ClinVar Annotator: match by term: Cerebral arteriovenous malformation

PMID:15879500 PMID:24876084 PMID:25741868 PMID:28492532 PMID:30120215

NCBI chr 9:98,934,080...98,973,862
Ensembl chr 9:127,605,608...127,644,641

G

fms related receptor tyrosine kinase 1

protein:increased expression:endothelial cell:

NCBI chr13:9,584,850...9,779,542

G

GLI family zinc finger 2

ClinVar Annotator: match by term: Arteriovenous malformations of the brain

NCBI chr2B:7,665,403...7,922,840
Ensembl chr2B:121,303,831...121,497,442

G

interleukin 17 receptor D

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901

NCBI chr 3:57,023,622...57,098,869
Ensembl chr 3:58,240,835...58,309,409

G

interleukin 6

NCBI chr 7:23,415,922...23,420,767

G

kinase insert domain receptor

protein:increased expression:endothelial cell:

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation

PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 More...

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

LEM domain containing 3

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr12:23,668,368...23,747,369
Ensembl chr12:24,172,749...24,252,314

G

mitogen-activated protein kinase kinase kinase kinase 4

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

Ensembl chr2A:102,750,221...102,945,263

G

NLR family pyrin domain containing 3

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 1:223,052,307...223,084,736
Ensembl chr 1:228,505,147...228,537,216

G

notch receptor 4

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

PMID:25741868 PMID:27231971

NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978

G

programmed cell death 10

ClinVar Annotator: match by term: Arteriovenous malformations of the brain

PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 More...

NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430

G

PITPNM family member 3

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr17:6,492,567...6,595,645
Ensembl chr17:6,481,590...6,584,379

G

phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138

G

seryl-tRNA synthetase 1

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 1:111,590,850...111,615,068
Ensembl chr 1:110,755,054...110,779,704

G

signal peptide, CUB domain and EGF like domain containing 2

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr11:9,146,533...9,219,816
Ensembl chr11:8,888,668...8,959,677

G

synapsin III

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr22:13,517,932...14,069,661
Ensembl chr22:31,373,604...31,866,798

G

TIMP metallopeptidase inhibitor 3

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr22:13,811,297...13,872,799
Ensembl chr22:31,662,562...31,723,964

G

vascular endothelial growth factor A

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

zinc finger FYVE-type containing 16

ClinVar Annotator: match by term: Cerebral arteriovenous malformation

NCBI chr 5:34,837,410...34,910,416
Ensembl chr 5:35,111,723...35,183,028

Bannayan-Riley-Ruvalcaba syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Cowden syndrome 1

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

killin, p53 regulated DNA replication inhibitor

ClinVar Annotator: match by term: Cowden syndrome 1

PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 More...

NCBI chr10:84,581,971...84,587,420

G

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

ClinVar Annotator: match by term: Cowden syndrome 1

PMID:15016963 PMID:15254419 PMID:15520168 PMID:15647370 PMID:15805248 More...

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1

PMID:1097835 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 More...

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Cowden syndrome 1

PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 More...

NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

bile duct adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 7 member 5

disease_progression

NCBI chr16:68,512,407...68,552,763

bile duct adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

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

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

bile duct cancer

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein B

susceptibility

DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human)

NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129

G

apolipoprotein E

susceptibility

DNA:SNP:intron:rs440446 (human)

NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490

G

ATM serine/threonine kinase

ClinVar Annotator: match by term: Bile duct cancer

PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 More...

NCBI chr11:103,109,979...103,256,405
Ensembl chr11:106,584,228...106,727,041

G

mutL homolog 1

ClinVar Annotator: match by term: Bile duct cancer

PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 More...

NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801

G

mutS homolog 2

ClinVar Annotator: match by term: Bile duct cancer

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823

NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

G

polycystin 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Bile duct cancer

PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 More...

NCBI chr16:604,366...605,560

G

DNA polymerase delta 1, catalytic subunit

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Bile duct cancer

PMID:25741868 PMID:28492532

Ensembl chr19:1,188,537...1,210,677

G

tight junction protein 1

protein:decreased expression:bile duct

NCBI chr15:981,198...1,249,292
Ensembl chr15:26,344,878...26,598,878

bile duct carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mesothelin

protein:increased expression:bile duct

Ensembl chr16:777,146...783,449

G

solute carrier family 7 member 5

disease_progression

NCBI chr16:68,512,407...68,552,763

Bile Duct Neoplasms

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aspartate beta-hydroxylase

mRNA:increased expression:bile duct

NCBI chr 8:57,921,580...58,134,778
Ensembl chr 8:59,629,707...59,843,658

G

epidermal growth factor receptor

CTD Direct Evidence: therapeutic

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

fascin actin-bundling protein 1

disease_progression

protein:increased expression:bile duct

NCBI chr 7:5,848,902...5,862,756

G

interleukin 6

disease_progression

protein:increased expression:serum

NCBI chr 7:23,415,922...23,420,767

G

MET proto-oncogene, receptor tyrosine kinase

protein:increased expression:intrahepatic bile duct (human)

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

O-6-methylguanine-DNA methyltransferase

severity

protein:decreased expression:carcinoma of extrahepatic bile duct (human)

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

G

marker of proliferation Ki-67

disease_progression

NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555

G

mucin 16, cell surface associated

protein:increased expression:serum,bile

NCBI chr19:8,416,393...8,568,418

G

mucin 4, cell surface associated

disease_progression

protein:increased expression:bile duct

NCBI chr 3:193,050,895...193,114,931

G

neural cell adhesion molecule 1

disease_progression

PMID:8501910 PMID:9851639

RGD:2326076 RGD:2326077

NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401

G

RUNX family transcription factor 3

DNA:hypermethylation:promoter

NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335

biliary tract benign neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

albumin

disease_progression

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

CTP synthase 1

mRNA:increased expression:biliary tract neoplasm (human)

NCBI chr 1:40,275,581...40,308,421
Ensembl chr 1:41,592,509...41,624,455

G

E74 like ETS transcription factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:177,607,265...177,613,234
Ensembl chr 1:181,908,747...181,915,354

G

Fas ligand

associated with Biliary Tract Disease;protein:decreased expression:serum

PMID:15138553 PMID:15287856

RGD:2317742 RGD:2317743

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

hepatocyte growth factor

mRNA:increased expression: :

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

interleukin 4

NCBI chr 5:128,091,342...128,099,886
Ensembl chr 5:134,253,039...134,261,581

G

interleukin 6

NCBI chr 7:23,415,922...23,420,767

G

MDM2 proto-oncogene

protein:increased expression:biliary epithelium (human)

NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278

G

methylthioadenosine phosphorylase

NCBI chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218

G

mucin 1, cell surface associated

NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850

G

mucin 4, cell surface associated

protein:increased expression:bile,biliary tract

NCBI chr 3:193,050,895...193,114,931

G

mucin 5AC, oligomeric mucus/gel-forming

disease_progression

protein:increased expression:serum

NCBI chr11:1,191,223...1,234,373

G

protein kinase cAMP-activated catalytic subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 1:116,625,640...116,786,396
Ensembl chr 1:85,487,681...85,644,253

bone giant cell tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

histone H3.3A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:201,523,670...201,533,005
Ensembl chr 1:206,520,109...206,529,447

bowenoid papulosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat containing 2

mRNA:increased expression:perianal skin (human)

NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421

G

baculoviral IAP repeat containing 3

mRNA:increased expression:perianal skin (human)

NCBI chr11:97,269,778...97,290,112
Ensembl chr11:100,763,274...100,785,194

breast fibroadenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Wnt family member 7B

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

Ensembl chr22:44,988,647...45,044,841

capillary hemangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AKT serine/threonine kinase 3

ClinVar Annotator: match by term: Capillary hemangioma

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

NCBI chr 1:219,107,482...219,463,140
Ensembl chr 1:224,480,784...224,824,838

G

cellular communication network factor 1

disease_progression

mRNA:increased expression:skin (human)

NCBI chr 1:118,138,739...118,141,681
Ensembl chr 1:86,994,296...86,997,147

G

NPC intracellular cholesterol transporter 1

ClinVar Annotator: match by term: Capillary hemangioma

NCBI chr18:16,783,096...16,838,301
Ensembl chr18:20,409,040...20,463,623

Capillary Malformation-Arteriovenous Malformation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin H

ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome

PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18363760 More...

NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149

G

EPH receptor B4

ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome

NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022

G

RAS p21 protein activator 1

susceptibility

DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome

PMID:9536098 PMID:14639529 PMID:16199547 PMID:17576681 PMID:18363760 More...

NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321

G

STAM binding protein

CTD Direct Evidence: marker/mechanism

NCBI chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086

Capillary Malformation-Arteriovenous Malformation 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin H

ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1

PMID:14639529 PMID:16199547 PMID:18363760 PMID:18446851 PMID:23164092 More...

NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1

PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More...

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

RAS p21 protein activator 1

ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1

PMID:14639529 PMID:16199547 PMID:18363760 PMID:18446851 PMID:22200646 More...

NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321

Capillary Malformation-Arteriovenous Malformation 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

EPH receptor B4

ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2 | ClinVar Annotator: match by term: EPHB4-related condition | ClinVar Annotator: match by term: EPHB4-related disorders

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21348050 PMID:25741868 More...

NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022

G

solute carrier family 12 member 9

ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2

PMID:25741868 PMID:28492532 PMID:28687708

NCBI chr 7:92,877,655...92,891,957
Ensembl chr 7:106,288,530...106,294,968
Ensembl chr 7:106,288,530...106,294,968

Carney Triad

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

succinate dehydrogenase complex flavoprotein subunit A

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

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

G

succinate dehydrogenase complex iron sulfur subunit B

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

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

NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

G

succinate dehydrogenase complex subunit C

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

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

NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736

Carney-Stratakis syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALG9 alpha-1,2-mannosyltransferase

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,659,847...106,757,451
Ensembl chr11:110,511,860...110,601,179

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 chr11:106,374,407...106,394,341
Ensembl chr11:110,219,490...110,236,589

G

chromosome 9 C11orf52 homolog

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,805,449...106,813,628
Ensembl chr11:110,649,474...110,657,531

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 chr11:106,764,776...106,772,501
Ensembl chr11:110,608,823...110,614,652

G

crystallin alpha B

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,795,406...106,800,019
Ensembl chr11:110,639,442...110,644,272

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 chr11:106,813,905...106,908,898
Ensembl chr11:110,657,803...110,753,114

G

dihydrolipoamide S-acetyltransferase

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,910,857...106,950,851
Ensembl chr11:110,756,001...110,792,795

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 chr11:106,759,471...106,764,721
Ensembl chr11:110,603,654...110,609,074

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 chr11:106,394,354...106,419,546
Ensembl chr11:110,238,843...110,263,946

G

heat shock protein family B (small) member 2

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,798,674...106,800,861
Ensembl chr11:110,642,933...110,644,893

G

layilin

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,423,134...106,443,237
Ensembl chr11:110,267,762...110,287,935

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 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273

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 chr11:106,960,669...106,971,584
Ensembl chr11:110,804,481...110,815,338

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 chr11:106,938,450...106,960,535
Ensembl chr11:110,798,074...110,804,506

G

POU class 2 homeobox associating factor 1

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,231,870...106,258,822
Ensembl chr11:110,078,850...110,103,996

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 chr11:106,178,653...106,188,354
Ensembl chr11:110,023,207...110,033,060

G

protein phosphatase 2 scaffold subunit Abeta

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,609,754...106,651,811
Ensembl chr11:110,465,475...110,495,908

G

succinate dehydrogenase complex iron sulfur subunit B

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

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

NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

G

succinate dehydrogenase complex subunit C

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

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

NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736

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 chr11:106,484,913...106,613,711
Ensembl chr11:110,329,237...110,453,543

G

translocase of inner mitochondrial membrane 8 homolog B

ClinVar Annotator: match by term: Carney-Stratakis syndrome

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

NCBI chr11:106,971,579...106,973,226
Ensembl chr11:110,815,333...110,816,980

Carotid Body Tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Carotid body tumor

PMID:18728283 PMID:19576851 PMID:22835832 PMID:24055113 PMID:24092654 More...

NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

cavernous hemangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCM2 scaffold protein

ClinVar Annotator: match by term: Cavernous hemangioma

NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828

G

KRIT1 ankyrin repeat containing

ClinVar Annotator: match by term: Cavernous hemangioma

PMID:10508515 PMID:10545614 PMID:11222804 PMID:12404106 PMID:23595507 More...

NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895

G

programmed cell death 10

ClinVar Annotator: match by term: Cavernous hemangioma

PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 More...

NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430

Central Nervous System Venous Angioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin H

ClinVar Annotator: match by term: Cerebral venous angioma

PMID:23650393 PMID:25741868 PMID:31680349

NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149

G

RAS p21 protein activator 1

ClinVar Annotator: match by term: Cerebral venous angioma

PMID:23650393 PMID:25741868 PMID:31680349

NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321

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 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

cerebral cavernous malformation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

A-kinase anchoring protein 9

ClinVar Annotator: match by term: Cerebral cavernous malformation

NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608

G

ankyrin repeat and IBR domain containing 1

ClinVar Annotator: match by term: Cerebral cavernous malformation

NCBI chr 7:84,243,929...84,399,358
Ensembl chr 7:97,841,233...97,995,816

G

CCM2 scaffold protein

ClinVar Annotator: match by term: Cerebral cavernous malformation

PMID:25525273 PMID:25741868 PMID:28492532

NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828

G

cytochrome P450 family 51 subfamily A member 1

ClinVar Annotator: match by term: Cerebral cavernous malformation

NCBI chr 7:84,110,130...84,132,870
Ensembl chr 7:97,708,806...97,729,824

G

fms related receptor tyrosine kinase 1

protein:increased expression:endothelial cell:

NCBI chr13:9,584,850...9,779,542

G

kinase insert domain receptor

protein:increased expression:endothelial cell:

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

KRIT1 ankyrin repeat containing

susceptibility

ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation | ClinVar Annotator: match by term: Cerebral cavernous malformations

PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 More...

NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895

G

leucine rich repeats and death domain containing 1

ClinVar Annotator: match by term: Cerebral cavernous malformation

NCBI chr 7:84,142,698...84,176,943
Ensembl chr 7:97,738,096...97,774,111

G

notch receptor 3

ClinVar Annotator: match by term: Cerebral cavernous malformation

PMID:25741868 PMID:28492532

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

G

programmed cell death 10

ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation

PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 More...

NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430

G

paraoxonase 1

susceptibility

DNA:missense mutations:cds:p.L55M, p.Q192R (human)

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

G

phosphatase and tensin homolog

protein:decreased expression:brain (human)

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

serpin family I member 1

ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation

NCBI chr 3:164,755,803...164,845,572
Ensembl chr 3:172,865,891...172,902,372

cerebral cavernous malformation 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRIT1 ankyrin repeat containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: Cerebral cavernous malformations 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders

PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 More...

NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895

G

programmed cell death 10

ClinVar Annotator: match by term: Cerebral cavernous malformation 1

NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430

G

prostaglandin I2 synthase

exacerbates

DNA:silent mutation:CDS:p.L256L (rs5628) (human)

NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612

cerebral cavernous malformation 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CCM2 scaffold protein

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More...

NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828

G

NAC alpha domain containing

ClinVar Annotator: match by term: Cerebral cavernous malformation 2

PMID:17160895 PMID:28492532

NCBI chr 7:45,794,340...45,802,532

cerebral cavernous malformation 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

programmed cell death 10

onset
exacerbates

ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
DNA:mutations:multiple (human)

OMIM
ClinVar
RGD

PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More...

RGD:401827114 RGD:401827115

NCBI chr 3:164,703,909...164,755,085
Ensembl chr 3:172,760,923...172,811,430

G

serpin family I member 1

ClinVar Annotator: match by term: Cerebral cavernous malformation 3

NCBI chr 3:164,755,803...164,845,572
Ensembl chr 3:172,865,891...172,902,372

Cerebral Cavernous Malformation 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

ClinVar Annotator: match by term: Cerebral cavernous malformation 4

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein subunit alpha 14

ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome

NCBI chr 9:47,196,338...47,423,388

childhood pilocytic astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitogen-activated protein kinase 1

protein:increased expression:brain:

NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335

cholangiocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily C member 2

susceptibility

DNA:polymorphism:exon:c.3972C>T (human)

NCBI chr10:96,385,534...96,458,571
Ensembl chr10:99,889,160...99,947,270

G

adrenoceptor beta 2

protein:decreased expression:liver

NCBI chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892

G

albumin

disease_progression

PMID:10776430 PMID:17545000 PMID:20431764

RGD:2325679 RGD:2325680 RGD:2325682

NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418

G

arachidonate 5-lipoxygenase

protein:increased expression:bile duct

NCBI chr10:42,461,398...42,531,576
Ensembl chr10:45,639,946...45,710,016

G

annexin A2

disease_progression

NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250

G

APC regulator of WNT signaling pathway

DNA:hypermethylation:promoter
DNA:loss of heterozygosity

PMID:10212000 PMID:15467712

RGD:2317198 RGD:2317205

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

apolipoprotein A1

protein:decreased expression:serum

NCBI chr11:111,673,539...111,675,428
Ensembl chr11:115,606,136...115,608,122

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

G

aspartate beta-hydroxylase

NCBI chr 8:57,921,580...58,134,778
Ensembl chr 8:59,629,707...59,843,658

G

autophagy related 101

disease_progression

NCBI chr12:36,685,897...36,693,613
Ensembl chr12:37,462,533...37,470,062

G

BRCA1 associated protein 1

CTD Direct Evidence: marker/mechanism

PMID:24185509 PMID:25231345

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

baculoviral IAP repeat containing 6

ameliorates

mRNA:increased expression:bile duct (human)

NCBI chr2A:32,373,479...32,633,088
Ensembl chr2A:33,084,929...33,343,245

G

B-Raf proto-oncogene, serine/threonine kinase

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

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

cyclin dependent kinase inhibitor 2A

onset

protein:decreased expression:liver

NCBI chr 9:21,803,862...21,831,322

G

C-X-C motif chemokine ligand 8

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 4:50,452,857...50,456,015
Ensembl chr 4:56,286,708...56,288,083

G

C-X-C motif chemokine receptor 1

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:18550579 PMID:25741868

NCBI chr2B:105,429,576...105,433,243
Ensembl chr2B:224,028,838...224,029,890

G

cytochrome P450 family 24 subfamily A member 1

protein:increased expression:intrahepatic bile, extrahepatic bile duct (human)

NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716

G

epidermal growth factor

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:18550579 PMID:28492532

NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

erythropoietin

mRNA, protein:increased expression:liver

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

erythropoietin receptor

mRNA, protein:increased expression:liver

NCBI chr19:10,925,148...10,931,955
Ensembl chr19:11,635,248...11,642,383

G

erb-b2 receptor tyrosine kinase 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:17,560,337...17,600,808
Ensembl chr17:17,777,434...17,805,862

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

no_association
disease_progression

DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human)
DNA:SNP: :g.148505302C>T (rs887569) (human)

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

Fas ligand

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

fibroblast growth factor 2

protein:increased expression:bile

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

G

fibroblast growth factor receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815

G

fascin actin-bundling protein 1

disease_progression

protein:increased expression:bile ducts

NCBI chr 7:5,848,902...5,862,756

G

GNAS complex locus

disease_progression

CTD Direct Evidence: marker/mechanism
DNA:polymorphism:393T>C (human)

PMID:17356712 PMID:22561520

NCBI chr20:55,190,607...55,262,245

G

glutathione S-transferase mu 1

Ensembl chr 1:127,979,238...128,010,411

G

glutathione S-transferase pi 1

treatment

human cell line in a mouse model
DNA:hypermethylation:promoter

PMID:12805482 PMID:15467712

RGD:14401711 RGD:2317198

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

histone deacetylase 6

protein:increased expression:liver:

NCBI chr X:41,099,539...41,122,650
Ensembl chr X:48,960,430...48,982,642

G

hepatocyte growth factor

mRNA, protein:increased expression: :
protein:increased expression:serum

PMID:10827151 PMID:16974053

RGD:2317909 RGD:2317925

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

hypoxia inducible factor 1 subunit alpha

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868

NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

G

isocitrate dehydrogenase (NADP(+)) 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

interleukin 10

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:28492532

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

interleukin 19

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:28492532

NCBI chr 1:182,372,339...182,446,147
Ensembl chr 1:186,651,640...186,724,748

G

interleukin 1 beta

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:18550579 PMID:25741868

NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424

G

interleukin 1 receptor type 2

disease_progression

mRNA:altered expression:liver (human)

Ensembl chr2A:103,042,328...103,078,190

G

interleukin 4 receptor

mRNA:increased expression:bile duct

Ensembl chr16:27,642,702...27,737,445

G

interleukin 6

ClinVar Annotator: match by term: Cholangiocarcinoma

PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 More...

NCBI chr 7:23,415,922...23,420,767

G

insulin

disease_progression

mRNA:altered expression:liver (human)

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

G

potassium voltage-gated channel subfamily D member 2

CTD Direct Evidence: marker/mechanism

NCBI chr 7:112,277,018...112,751,896
Ensembl chr 7:124,966,816...125,437,430

G

KIT proto-oncogene, receptor tyrosine kinase

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

lysine methyltransferase 2C

CTD Direct Evidence: marker/mechanism

NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043

G

KRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

PMID:8968066 PMID:22561520

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

keratin 7

NCBI chr12:36,514,021...36,529,721
Ensembl chr12:37,291,244...37,307,341

G

cytochrome c

NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549

G

paternally-expressed gene 3 protein

CTD Direct Evidence: marker/mechanism

NCBI chr19:53,830,193...53,860,760
Ensembl chr19:62,588,511...62,654,661

G

serine protease 2

protein:increased expression:serum

NCBI chr 7:134,761,471...134,765,816
Ensembl chr 7:147,223,606...147,257,587

G

MDM2 proto-oncogene

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr12:66,322,340...66,357,010
Ensembl chr12:69,102,084...69,133,278

G

MET proto-oncogene, receptor tyrosine kinase

disease_progression

protein:increased expression:liver, biliary epithelium (rat)
protein:increased phosphorylation:liver, carcinoma (human)

PMID:14656942 PMID:16818635

RGD:2317578 RGD:2317601

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

major facilitator superfamily domain containing 4A

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 1:181,177,517...181,211,432
Ensembl chr 1:185,474,032...185,497,408

G

O-6-methylguanine-DNA methyltransferase

DNA:hypermethylation:promoter (human)

NCBI chr10:126,059,701...126,365,850
Ensembl chr10:130,305,485...130,609,422

G

marker of proliferation Ki-67

disease_progression

NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555

G

matrix metallopeptidase 2

disease_progression

protein:increased expression:bile duct

PMID:15213623 PMID:19629755

RGD:2324667 RGD:2325769

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 9

protein:increased expression:bile duct
mRNA:increased expression:bile duct

PMID:15213623 PMID:16463672

RGD:2324667 RGD:2325856

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

mesothelin

CTD Direct Evidence: marker/mechanism

Ensembl chr16:777,146...783,449

G

methylenetetrahydrofolate reductase

susceptibility

DNA:polymorphism (human)

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

mucin 1, cell surface associated

disease_progression

mRNA:increased expression:bile duct
protein:increased secretion:bile
protein:increased expression:serum
protein:increased expression:bile duct:

PMID:15213623 PMID:18081149 PMID:19055478 PMID:19260467 PMID:19639217

RGD:2317986 RGD:2324622 RGD:2324638 RGD:2324664 RGD:2324667

NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850

G

mucin 16, cell surface associated

associated with Opisthorchiasis;protein:increased expression:serum

NCBI chr19:8,416,393...8,568,418

G

mucin 2, oligomeric mucus/gel-forming

mRNA:decreased expression:bile duct

NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741

G

mucin 3A, cell surface associated

mRNA:decreased expression:bile duct

NCBI chr 7:92,974,006...92,993,990

G

mucin 4, cell surface associated

disease_progression

protein:increased expression:bile duct

PMID:14752841 PMID:19082442

RGD:2303602 RGD:2324944

NCBI chr 3:193,050,895...193,114,931

G

mucin 5AC, oligomeric mucus/gel-forming

disease_progression

mRNA:increased expression:bile duct
protein:increased expression:serum

PMID:11680592 PMID:14508831

RGD:2324948 RGD:2324990

NCBI chr11:1,191,223...1,234,373

G

mucin 5B, oligomeric mucus/gel-forming

mRNA:decreased expression:bile duct

G

mucin 6, oligomeric mucus/gel-forming

protein:increased expression: :

NCBI chr11:1,035,447...1,071,791
Ensembl chr11:1,077,867...1,106,927

G

N-acetyltransferase 2

DNA:polymorphisms (human)

NCBI chr 8:17,606,445...17,623,397
Ensembl chr 8:14,575,455...14,576,327

G

neural cell adhesion molecule 1

associated with hepatitis

NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401

G

nitric oxide synthase 2

protein:increased expression:bile duct
CTD Direct Evidence: marker/mechanism

PMID:16094703 PMID:16818635

NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093

G

notch receptor 1

protein:increased expression:cholangiocyte

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

nuclear receptor subfamily 1 group H member 4

disease_progression

mRNA:decreased expression:liver (rat)

NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058

G

8-oxoguanine DNA glycosylase

disease_progression

DNA:loss of heterozygosity (human)

PMID:11260864 PMID:11866974

RGD:2317134 RGD:2317136

NCBI chr 3:9,702,311...9,742,283
Ensembl chr 3:9,940,955...9,947,335

G

oxysterol binding protein 2

mRNA:increased expression:blood

NCBI chr22:11,719,017...11,933,841
Ensembl chr22:29,520,479...29,733,061

G

oxysterol binding protein like 7

mRNA:increased expression:blood

NCBI chr17:9,715,464...9,729,950
Ensembl chr17:9,897,768...9,912,065

G

pannexin 2

disease_progression

mRNA:altered expression:liver (human)

NCBI chr22:30,398,717...30,408,358
Ensembl chr22:49,404,624...49,408,045

G

pro-apoptotic WT1 regulator

mRNA,protein:decreased expression:cholangiocyte:

NCBI chr12:77,114,282...77,224,116
Ensembl chr12:79,969,517...80,070,796

G

polybromo 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146

G

pescadillo ribosomal biogenesis factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr22:11,604,897...11,620,187
Ensembl chr22:29,406,095...29,420,868

G

pirin

disease_progression

mRNA:altered expression:liver (human)

NCBI chr X:8,011,382...8,121,994
Ensembl chr X:15,294,099...15,404,004

G

RNA polymerase I and III subunit C

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 6:43,101,771...43,121,460
Ensembl chr 6:44,395,787...44,412,257

G

peptidylprolyl isomerase A

ameliorates

human cell line and construct in a mouse model

NCBI chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545

G

protein phosphatase 3 catalytic subunit alpha

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394

G

phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2

sexual_dimorphism

DNA:substitutions, insertion/deletions: (human)

NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138

G

protein kinase cAMP-activated catalytic subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr19:13,657,344...13,683,864
Ensembl chr19:14,385,191...14,406,205

G

protein kinase cAMP-activated catalytic subunit beta

CTD Direct Evidence: marker/mechanism

NCBI chr 1:116,625,640...116,786,396
Ensembl chr 1:85,487,681...85,644,253

G

proline rich and Gla domain 4

disease_progression

mRNA:altered expression:liver (human)

NCBI chr11:32,790,274...32,816,067
Ensembl chr11:32,678,175...32,702,862

G

serine protease 56

disease_progression

mRNA:altered expression:liver (human)

NCBI chr2B:119,751,950...119,757,308
Ensembl chr2B:238,670,931...238,675,839

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

PMID:23376645 PMID:27022031

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

prostaglandin-endoperoxide synthase 2

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

Ras association domain family member 8

disease_progression

mRNA:altered expression:liver (human)

NCBI chr12:60,246,885...60,361,888
Ensembl chr12:62,867,015...62,880,512

G

ring finger protein 39

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 6:29,848,055...29,853,659

G

ring finger protein 43

exacerbates

CTD Direct Evidence: marker/mechanism
associated with opisthorchiasis;DNA:SNPs:multiple: (human)

NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748

G

roundabout guidance receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:76,013,780...77,764,156
Ensembl chr 3:79,030,223...79,632,309

G

RUNX family transcription factor 3

protein:decreased expression:bile duct

NCBI chr 1:24,097,321...24,164,065
Ensembl chr 1:25,073,134...25,137,335

G

solute carrier family 4 member 4

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 4:52,659,221...52,994,053
Ensembl chr 4:59,002,200...59,385,608

G

solute carrier family 5 member 5

CTD Direct Evidence: marker/mechanism

NCBI chr19:17,352,635...17,377,130
Ensembl chr19:18,327,410...18,344,480

G

solute carrier family 7 member 5

disease_progression
treatment

PMID:24131658 PMID:25475870 PMID:28347255

RGD:151361214 RGD:151361287 RGD:151361294

NCBI chr16:68,512,407...68,552,763

G

SMAD family member 4

CTD Direct Evidence: marker/mechanism

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

suppressor of cytokine signaling 3

severity

protein:decreased expression:bile duct (human)

NCBI chr17:72,433,206...72,436,500
Ensembl chr17:77,983,389...77,984,066

G

SRY-box transcription factor 17

severity

NCBI chr 8:50,883,088...50,885,542
Ensembl chr 8:48,257,287...48,259,808

G

SRY-box transcription factor 2

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 3:178,744,881...178,747,392
Ensembl chr 3:186,922,705...186,923,662

G

transforming growth factor beta 1

disease_progression

protein:increased expression:pancreas

PMID:12632524 PMID:16083599

RGD:1299231 RGD:2325020

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

G

transforming growth factor beta receptor 2

mRNA:increased expression:bile duct

NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856

G

thrombospondin 1

disease_progression

DNA:hypermethylation (human)

PMID:11927969 PMID:12213730 PMID:16465407

RGD:2325024 RGD:2325026 RGD:2325027

NCBI chr15:18,521,802...18,538,172
Ensembl chr15:36,776,756...36,793,170

G

tenascin C

severity

NCBI chr 9:86,125,672...86,222,804
Ensembl chr 9:114,486,778...114,584,299

G

TNF alpha induced protein 3

severity

protein:increased expression:bile duct (human)

NCBI chr 6:135,617,465...135,634,085
Ensembl chr 6:139,705,255...139,720,819

G

tumor protein p53

CTD Direct Evidence: marker/mechanism

PMID:16818635 PMID:22561520

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

transthyretin

protein:decreased expression:blood serum (human)

NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960

G

vascular endothelial growth factor A

ClinVar Annotator: match by term: Cholangiocarcinoma

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

WD repeat and HMG-box DNA binding protein 1

ameliorates

NCBI chr14:35,528,981...35,614,145
Ensembl chr14:53,807,684...53,889,703

G

Wnt family member 9A

disease_progression

mRNA:altered expression:liver (human)

NCBI chr 1:203,320,990...203,350,599
Ensembl chr 1:208,300,609...208,327,191

chondroblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

histone H3.3A

CTD Direct Evidence: marker/mechanism

NCBI chr17:69,728,165...69,730,519
Ensembl chr17:75,277,614...75,281,106

choroid plexus papilloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p53

ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: Papilloma of choroid plexus

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

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

CLAPO Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

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

ClinVar Annotator: match by term: CLAPO syndrome | ClinVar Annotator: match by term: Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth

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

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

colon adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

axin 2

protein:increased expression::

NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086

G

calcium voltage-gated channel subunit alpha1 D

protein:increased expression:colon (human)

NCBI chr 3:53,432,189...53,751,347
Ensembl chr 3:54,495,952...54,970,444

G

cyclin D1

severity

NCBI chr11:64,737,006...64,750,353

G

cyclin D2

severity

NCBI chr12:4,385,957...4,417,602
Ensembl chr12:4,309,272...4,335,551

G

choline kinase alpha

protein:increased expression:colonic mucosa (human)

NCBI chr11:63,134,776...63,202,516
Ensembl chr11:66,444,406...66,510,221

G

insulin like growth factor 2 mRNA binding protein 1

NCBI chr17:8,479,806...8,538,336
Ensembl chr17:8,468,240...8,519,552

G

Rac family small GTPase 1

NCBI chr 7:7,039,379...7,068,866

G

retinol binding protein 4

protein:increased expression:blood serum (human)

NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887

G

tet methylcytosine dioxygenase 2

mRNA:decreased expression:colon (human)

NCBI chr 4:97,612,439...97,745,544
Ensembl chr 4:108,269,082...108,358,400

colorectal adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Colorectal adenoma

PMID:2472832 PMID:10811618 PMID:11257105 PMID:11823972 PMID:11904335 More...

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

baculoviral IAP repeat containing 7

NCBI chr20:59,618,530...59,623,612
Ensembl chr20:61,157,302...61,161,932

G

cytochrome P450 family 24 subfamily A member 1

severity
treatment

DNA:SNPs:intron, CDS: (rs927650), (rs35051736) (human)
DNA:SNP:CDS: (rs2296241) (human)

PMID:26241700 PMID:27978548

RGD:11521055 RGD:152025254

NCBI chr20:50,500,103...50,520,487
Ensembl chr20:51,721,685...51,742,716

G

enhancer of zeste 2 polycomb repressive complex 2 subunit

disease_progression

protein:increased expression:large intestine

NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726

G

coagulation factor V

protein:increased expression:serum

NCBI chr 1:144,996,757...145,070,046
Ensembl chr 1:148,718,897...148,790,915

G

Fos proto-oncogene, AP-1 transcription factor subunit

NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766

G

glutathione peroxidase 2

mRNA:increased expression:colorectum (human)

NCBI chr14:45,522,558...45,526,678

G

glutathione peroxidase 3

mRNA:decreased expression:colorectum (human)

NCBI chr 5:146,447,939...146,456,476

G

glutathione S-transferase mu 1

susceptibility

DNA:deletion:cds (human)

Ensembl chr 1:127,979,238...128,010,411

G

glutathione S-transferase pi 1

DNA:SNP: :p.A114V (human)

NCBI chr11:62,942,756...62,945,701
Ensembl chr11:66,253,421...66,256,472

G

Jun proto-oncogene, AP-1 transcription factor subunit

NCBI chr 1:58,042,794...58,045,536

G

mitogen-activated protein kinase kinase 4

protein:decreased expression:colorectum (human)

NCBI chr17:39,497,105...39,622,331
Ensembl chr17:44,248,857...44,359,909

G

mitogen-activated protein kinase 8

PMID:21122381 PMID:23082052

RGD:13217408 RGD:13217413

NCBI chr10:45,806,748...45,936,362

G

MYD88 innate immune signal transduction adaptor

ameliorates

NCBI chr 3:38,036,565...38,041,014
Ensembl chr 3:38,319,024...38,323,572

G

patched 1

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

prostaglandin I2 synthase

susceptibility

DNA:repeats:promoter:

NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612

G

Raf-1 proto-oncogene, serine/threonine kinase

NCBI chr 3:12,510,084...12,590,598
Ensembl chr 3:12,853,415...12,932,871

G

selenoprotein H

mRNA:increased expression:colorectum (human)

NCBI chr11:52,980,128...52,981,759
Ensembl chr11:56,450,023...56,450,642

G

selenoprotein P

mRNA:decreased expression:colorectum (human)

NCBI chr 5:67,570,087...67,582,192
Ensembl chr 5:72,619,607...72,627,213

G

selenoprotein S

mRNA:decreased expression:colorectum (human)

NCBI chr15:79,995,678...80,002,159
Ensembl chr15:99,279,203...99,285,682

G

selenophosphate synthetase 2

mRNA:decreased expression:colorectum (human)

NCBI chr16:24,523,111...24,525,390

G

SMAD family member 4

mRNA:increased expression:mucosa

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1

ameliorates

protein:increased expression:colorectal mucosa (human)

NCBI chr 3:47,487,948...47,683,623
Ensembl chr 3:48,590,221...48,781,248

G

TNF receptor superfamily member 1A

protein:increased expression:serum, colorectal mucosa, epithelial cell

NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613

G

transthyretin

protein:decreased expression:blood serum (human)
protein:decreased expression:colorectum (human)

PMID:21136704 PMID:33739034

RGD:151660505 RGD:151664608

NCBI chr18:24,809,707...24,816,713
Ensembl chr18:28,407,893...28,414,960

G

thioredoxin reductase 3

mRNA:increased expression:colorectum (human)

NCBI chr 3:123,644,679...123,697,563
Ensembl chr 3:130,967,026...131,013,667

common bile duct neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

apolipoprotein B

protein:increased expression:serum

NCBI chr2A:20,986,464...21,029,004
Ensembl chr2A:21,100,356...21,145,129

G

fascin actin-bundling protein 1

mRNA, protein:increased expression: :

NCBI chr 7:5,848,902...5,862,756

G

mesothelin

protein:increased expression:common bile duct, ampulla of vater

Ensembl chr16:777,146...783,449

G

methylthioadenosine phosphorylase

DNA, protein:deletion, decreased expression:common bile duct:

NCBI chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218

G

mucin 1, cell surface associated

disease_progression

protein:increased expression:bile duct

NCBI chr 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850

G

mucin 4, cell surface associated

protein:increased expression:pancreas

NCBI chr 3:193,050,895...193,114,931

G

mucin 5AC, oligomeric mucus/gel-forming

protein:altered expression:pancreas

NCBI chr11:1,191,223...1,234,373

G

thymidine phosphorylase

disease_progression

NCBI chr22:30,772,088...30,776,618

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 chr11:112,035,502...112,066,170
Ensembl chr11:115,972,414...115,999,748

craniopharyngioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Craniopharyngioma

PMID:1316610 PMID:8162022 PMID:8381579 PMID:8381581 PMID:8395941 More...

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

B-Raf proto-oncogene, serine/threonine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

catenin beta 1

ClinVar Annotator: match by term: Craniopharyngioma

PMID:9927029 PMID:10192393 PMID:23265383 PMID:25157968 PMID:26619011 More...

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

neurofibromin 1

ClinVar Annotator: match by term: Craniopharyngioma

PMID:25741868 PMID:28492532

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

platelet derived growth factor receptor alpha

disease_progression

NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097

G

patched 1

ClinVar Annotator: match by term: Craniopharyngioma

PMID:25741868 PMID:26467025 PMID:28492532 PMID:29230040

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

SUFU negative regulator of hedgehog signaling

ClinVar Annotator: match by term: Rathke's pouch tumor

PMID:25741868 PMID:28492532 PMID:29641532

NCBI chr10:99,107,516...99,231,761
Ensembl chr10:102,571,886...102,696,472

G

TSC complex subunit 1

ClinVar Annotator: match by term: Craniopharyngioma

PMID:22161988 PMID:25741868 PMID:28492532 PMID:29684080

NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759

cystic lymphangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

collagen type XI alpha 2 chain

ClinVar Annotator: match by term: Cystic hygroma

PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 More...

NCBI chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635

dermoid cyst of ovary

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box O3

OMIM:166950

NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272

desmoid tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Desmoid tumor

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

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

catenin beta 1

ClinVar Annotator: match by term: Desmoid tumor

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

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

diaphyseal medullary stenosis with malignant fibrous histiocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

methylthioadenosine phosphorylase

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

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

NCBI chr 9:21,637,543...21,769,698
Ensembl chr 9:22,266,376...22,382,218

duodenal gastrinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

menin 1

associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: :

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

dysembryoplastic neuroepithelial tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

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

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

eccrine porocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Eccrine porocarcinoma

NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661

G

MRE11 homolog, double strand break repair nuclease

ClinVar Annotator: match by term: Eccrine porocarcinoma

NCBI chr11:89,418,537...89,500,705
Ensembl chr11:92,918,549...92,985,966

G

T-box transcription factor 3

ClinVar Annotator: match by term: Eccrine porocarcinoma

NCBI chr12:112,240,050...112,254,299
Ensembl chr12:115,620,002...115,631,316

embryonal rhabdomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

AT-rich interaction domain 1A

CTD Direct Evidence: marker/mechanism

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

G

BCL6 corepressor

CTD Direct Evidence: marker/mechanism

NCBI chr X:32,497,931...32,624,307
Ensembl chr X:40,202,235...40,249,986

G

BUB1 mitotic checkpoint serine/threonine kinase B

CTD Direct Evidence: marker/mechanism

NCBI chr15:19,095,383...19,155,557
Ensembl chr15:37,350,826...37,410,648

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733

G

myogenic differentiation 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:17,772,317...17,774,884
Ensembl chr11:17,456,124...17,458,690

G

protein tyrosine phosphatase non-receptor type 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

PMID:26619011 PMID:26822237

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

SET domain containing 2, histone lysine methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr 3:46,916,615...47,064,046
Ensembl chr 3:48,018,517...48,163,999

G

serine/threonine kinase 11

ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma

PMID:25741868 PMID:28492532

Ensembl chr19:1,188,537...1,210,677

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301

Embryonal Rhabdomyosarcoma 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 22 member 18

NCBI chr11:2,927,586...2,950,801
Ensembl chr11:2,956,086...2,978,958

Embryonal Rhabdomyosarcoma 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dicer 1, ribonuclease III

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

PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:24728327 More...

NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940

endometrial hyperplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

baculoviral IAP repeat containing 5

protein:increased expression:endometrium

NCBI chr17:72,292,332...72,303,493
Ensembl chr17:77,842,724...77,854,159

G

carbonic anhydrase 9

protein:altered localization:membrane, endometrium

NCBI chr 9:35,525,877...35,533,159
Ensembl chr 9:36,328,303...36,335,340

G

cell division cycle 25B

protein:increased expression:endometrium

NCBI chr20:3,877,255...3,883,458
Ensembl chr20:3,626,107...3,645,179

G

cell division cycle 25C

NCBI chr 5:133,663,210...133,717,974
Ensembl chr 5:139,795,565...139,842,698

G

cyclin dependent kinase inhibitor 1C

CTD Direct Evidence: marker/mechanism

NCBI chr11:2,908,537...2,911,134

G

cadherin EGF LAG seven-pass G-type receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:111,627,551...111,653,775
Ensembl chr 1:110,791,682...110,815,421

G

cysteine and glycine rich protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 1:177,081,772...177,105,448
Ensembl chr 1:181,382,994...181,406,863

G

DEAD-box helicase 1

CTD Direct Evidence: marker/mechanism

NCBI chr2A:15,582,499...15,619,751
Ensembl chr2A:15,716,044...15,753,623

G

junction plakoglobin

protein:decreased expression:endometrium

NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479

G

KRAS proto-oncogene, GTPase

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

matrix metallopeptidase 7

protein:increased expression:endometrium

NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

protein tyrosine kinase 2

protein:increased expression:endometrium

NCBI chr 8:137,330,777...137,677,306
Ensembl chr 8:140,412,773...140,684,898

G

S-phase kinase associated protein 2

associated with Endometrial Neoplasms;protein:increased expression:endometrium

NCBI chr 5:74,179,608...74,211,563
Ensembl chr 5:79,461,018...79,492,311

G

trefoil factor 1

protein:increased expression:endometrium

NCBI chr21:28,669,323...28,673,556
Ensembl chr21:41,988,039...41,992,270

Endometrial Hyperplasia without Atypia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Endometrial hyperplasia without atypia

PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More...

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

Endometrial Intraepithelial Neoplasia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

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

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

cyclin dependent kinase inhibitor 2A

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

PMID:9425228 PMID:12700603 PMID:15146471 PMID:19799798 PMID:21893440 More...

NCBI chr 9:21,803,862...21,831,322

G

catenin beta 1

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

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

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12460918 More...

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

tumor protein p53

ClinVar Annotator: match by term: Atypical endometrial hyperplasia

PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

epidermodysplasia verruciformis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane channel like 6

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More...

NCBI chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482

G

transmembrane channel like 8

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 More...

NCBI chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013

G

trinucleotide repeat containing adaptor 6C

ClinVar Annotator: match by term: Epidermodysplasia verruciformis

NCBI chr17:72,035,737...72,185,489
Ensembl chr17:77,633,564...77,738,511

Epidermodysplasia Verruciformis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane channel like 6

susceptibility

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition

PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 More...

NCBI chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482

G

transmembrane channel like 8

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1

PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 More...

NCBI chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013

Epidermodysplasia Verruciformis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane channel like 6

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2

PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr17:72,183,937...72,205,550
Ensembl chr17:77,742,467...77,757,482

G

transmembrane channel like 8

susceptibility

ClinVar Annotator: match by term: Epidermodysplasia verruciformis 2 | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2

PMID:9536098 PMID:10084299 PMID:12426567 PMID:17576681 PMID:22158547 More...

NCBI chr17:72,204,802...72,218,105
Ensembl chr17:77,759,805...77,771,013

Epidermodysplasia Verruciformis 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium and integrin binding 1

susceptibility

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3

PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:28492532 More...

NCBI chr15:68,919,377...68,923,213

Epidermodysplasia Verruciformis 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ras homolog family member H

susceptibility

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4

PMID:22850876 PMID:25741868 PMID:28492532

NCBI chr 4:34,517,487...34,569,934
Ensembl chr 4:40,419,549...40,420,124

Epidermodysplasia Verruciformis 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interleukin 7

susceptibility

ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5

NCBI chr 8:75,254,166...75,337,373
Ensembl chr 8:76,895,095...76,966,918

Epithelioid Hemangioendothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

interferon alpha-2

CTD Direct Evidence: therapeutic

NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736

extrahepatic bile duct adenocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated protein 1

disease_progression

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

polybromo 1

disease_progression

NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146

G

Rac family small GTPase 1

protein:increased expression:mucosa (human)

NCBI chr 7:7,039,379...7,068,866

G

solute carrier family 7 member 5

disease_progression

NCBI chr16:68,512,407...68,552,763

extrahepatic bile duct carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DNA polymerase delta 1, catalytic subunit

ClinVar Annotator: match by term: Extrahepatic bile duct cancer

PMID:25741868 PMID:26467025 PMID:28492532

NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611

G

exportin 1

disease_progression

protein:increased expression:extrahepatic bile duct (human)

NCBI chr2A:61,562,372...61,622,841
Ensembl chr2A:62,698,935...62,757,793

Familial Cerebral Cavernous Malformation

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

angiotensin I converting enzyme

DNA:deletion:intron:IVS16+1464-1751del (human)

NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853

G

cullin associated and neddylation dissociated 2 (putative)

NCBI chr 3:12,722,259...12,757,983
Ensembl chr 3:13,066,135...13,102,246

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 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430

familial hepatic adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HNF1 homeobox A

ClinVar Annotator: match by term: Hepatic adenomas, familial | ClinVar Annotator: match by term: LIVER CELL ADENOMAS, FAMILIAL

PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 More...

NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911

Familial Isolated Pituitary Adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl hydrocarbon receptor interacting protein

ClinVar Annotator: match by term: Familial isolated pituitary adenoma

PMID:16728643 PMID:17242703 PMID:17244780 PMID:17609395 PMID:18484068 More...

NCBI chr11:62,841,377...62,849,664
Ensembl chr11:66,152,670...66,160,898

G

ALK receptor tyrosine kinase

ClinVar Annotator: match by term: Familial isolated pituitary adenoma

PMID:9536098 PMID:17576681 PMID:21838707 PMID:22072639 PMID:23104988 More...

NCBI chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735

G

G protein subunit alpha i2

ClinVar Annotator: match by term: Familial isolated pituitary adenoma

NCBI chr 3:50,154,731...50,187,948
Ensembl chr 3:51,398,981...51,421,988

fibroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANTXR cell adhesion molecule 2

susceptibility

CTD Direct Evidence: marker/mechanism

PMID:12973667 PMID:14508707

NCBI chr 4:44,124,282...44,284,949
Ensembl chr 4:49,972,472...50,132,738

G

BRF1 RNA polymerase III transcription initiation factor subunit

NCBI chr14:85,851,908...85,950,489
Ensembl chr14:105,635,757...105,714,465

G

glutamate metabotropic receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:143,819,364...144,231,304
Ensembl chr 6:148,537,036...148,947,047

fibrous histiocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

multifunctional ROCO family signaling regulator 1

NCBI chr 8:10,318,455...10,428,469

G

matrix metallopeptidase 21

CTD Direct Evidence: marker/mechanism

NCBI chr10:122,325,909...122,338,047
Ensembl chr10:126,591,824...126,601,001

ganglioglioma

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: Ganglioglioma

PMID:25741868 PMID:28492532

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Childhood ganglioglioma

PMID:19363522 PMID:19794125 PMID:21190184 PMID:21343559 PMID:21716161 More...

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

neurofibromin 1

ClinVar Annotator: match by term: Ganglioglioma

PMID:7607663 PMID:10712197 PMID:15523642 PMID:16835897 PMID:16944272 More...

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

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: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations

PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 More...

NCBI chr 1:94,907,342...94,963,052
Ensembl chr 1:93,646,499...93,701,430

Glomus Tympanicum Tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

vascular endothelial growth factor A

mRNA:increased expression: :

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

growth hormone secreting pituitary adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl hydrocarbon receptor interacting protein

ClinVar Annotator: match by term: Somatotroph adenoma

PMID:2200621 PMID:5320367 PMID:9482716 PMID:9536098 PMID:12213383 More...

NCBI chr11:62,841,377...62,849,664
Ensembl chr11:66,152,670...66,160,898

G

cyclin dependent kinase inhibitor 1A

protein:increased expression:pituitary gland:

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

GNAS complex locus

CTD Direct Evidence: marker/mechanism

NCBI chr20:55,190,607...55,262,245

G

G protein-coupled receptor 101

CTD Direct Evidence: marker/mechanism

NCBI chr X:126,149,803...126,159,844
Ensembl chr X:136,418,522...136,420,048

G

15-hydroxyprostaglandin dehydrogenase

mRNA:decreased expression:pituitary gland

NCBI chr 4:166,716,386...166,749,225
Ensembl chr 4:178,949,137...178,982,910

G

somatotropin

CTD Direct Evidence: marker/mechanism

PMID:1611713 PMID:2042694

NCBI chr17:58,010,848...58,013,421
Ensembl chr17:63,103,332...63,105,067

G

menin 1

ClinVar Annotator: match by term: Somatotroph adenoma

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

prolactin

CTD Direct Evidence: marker/mechanism

NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829

G

prostaglandin-endoperoxide synthase 2

mRNA:increased expression:pituitary gland

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

growth hormone secreting pituitary adenoma 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein-coupled receptor 101

ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2

PMID:25470569 PMID:25741868 PMID:25806919 PMID:25806920 PMID:25806921 More...

NCBI chr X:126,149,803...126,159,844
Ensembl chr X:136,418,522...136,420,048

hemangioblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine receptor 4

mRNA,protein:increased expression:temporal lobe :

NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647

G

delta like canonical Notch ligand 4

mRNA,protein:increased expression:temporal lobe :

NCBI chr15:19,871,584...19,881,817
Ensembl chr15:38,121,574...38,129,471

G

hes related family bHLH transcription factor with YRPW motif 1

mRNA,protein:increased expression:temporal lobe :

NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201

G

hypoxia inducible factor 1 subunit alpha

CTD Direct Evidence: marker/mechanism

NCBI chr14:42,295,691...42,348,478
Ensembl chr14:60,552,374...60,604,885

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514

G

notch receptor 4

mRNA,protein:increased expression:temporal lobe :

NCBI chr 6:31,842,233...31,871,412
Ensembl chr 6:32,722,112...32,750,978

hemangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box O1

NCBI chr13:21,763,729...21,874,279

G

forkhead box O3

NCBI chr 6:106,360,519...106,485,676
Ensembl chr 6:110,406,266...110,516,272

G

forkhead box O4

NCBI chr X:60,364,466...60,372,147
Ensembl chr X:70,422,504...70,429,971

G

forkhead box P1

ClinVar Annotator: match by term: Glabellar hemangioma

NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173

G

isocitrate dehydrogenase (NADP(+)) 1

CTD Direct Evidence: marker/mechanism

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

isocitrate dehydrogenase (NADP(+)) 2

CTD Direct Evidence: marker/mechanism

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

matrix metallopeptidase 2

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

notch receptor 1

ClinVar Annotator: match by term: Hemangioma

NCBI chr 9:107,568,670...107,621,032
Ensembl chr 9:136,544,639...136,598,740

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Hemangioma

PMID:9467011 PMID:21194675 PMID:28492532

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

solute carrier family 2 member 1

NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143

G

steroid 5 alpha-reductase 3

ClinVar Annotator: match by term: Hemangioma

PMID:25741868 PMID:28492532

NCBI chr 4:68,565,400...68,591,400
Ensembl chr 4:75,131,196...75,155,347

G

TSC complex subunit 2

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

G

Yes1 associated transcriptional regulator

CTD Direct Evidence: marker/mechanism

NCBI chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301

hemangioma of liver

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein alpha 4

ClinVar Annotator: match by term: Hepatic hemangioma

NCBI chr 1:34,059,901...34,063,181

hepatic angiomyolipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

TSC complex subunit 2

DNA:mutations:multiple
associated with tuberous sclerosis;DNA:mutations:multiple

PMID:22251200 PMID:29512829

RGD:21079730 RGD:21079732

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

hepatocellular adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coactivator associated arginine methyltransferase 1

mRNA,protein:increased expression:liver:

NCBI chr19:10,424,993...10,476,702
Ensembl chr19:11,144,733...11,195,948

G

cyclin dependent kinase inhibitor 1B

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541

G

catenin beta 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

cytochrome P450 family 2 subfamily E member 1

treatment

Ensembl chr10:134,839,025...134,852,719

G

HNF1 homeobox A

susceptibility
exacerbates

DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human)
DNA:mutation: (human)
DNA:loss of heterozygosity, mutations:multiple

PMID:12355088 PMID:14598263 PMID:17663417

RGD:14700683 RGD:14700774 RGD:150530291

NCBI chr12:118,562,308...118,584,596
Ensembl chr12:121,932,671...121,955,911

G

HRas proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

KRAS proto-oncogene, GTPase

induced

aflatoxin B1 induced:DNA:transversion,transition mutations:cds:

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

alpha-2-macroglobulin

CTD Direct Evidence: marker/mechanism
mRNA,protein:increased expression:liver:

NCBI chr12:9,154,457...9,202,833
Ensembl chr12:9,385,359...9,433,979

G

mitogen-activated protein kinase kinase kinase 8

ameliorates

NCBI chr10:30,579,220...30,607,249
Ensembl chr10:30,933,483...30,960,824

G

marker of proliferation Ki-67

CTD Direct Evidence: marker/mechanism

NCBI chr10:124,684,336...124,714,143
Ensembl chr10:128,936,037...128,962,555

G

nuclear receptor subfamily 1 group H member 4

NCBI chr12:98,052,778...98,144,085
Ensembl chr12:101,457,885...101,548,058

G

nuclear receptor subfamily 1 group I member 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:136,642,126...136,651,074
Ensembl chr 1:140,553,951...140,562,799

G

phosphatase and tensin homolog

CTD Direct Evidence: marker/mechanism

PMID:15199412 PMID:27022031

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

protein tyrosine phosphatase non-receptor type 11

NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762

G

transmembrane protein 70

CTD Direct Evidence: marker/mechanism

NCBI chr 8:70,509,897...70,515,605
Ensembl chr 8:72,154,872...72,163,239

G

ubiquitin conjugating enzyme E2 E2

CTD Direct Evidence: marker/mechanism

NCBI chr 3:23,121,699...23,502,329
Ensembl chr 3:23,446,158...23,825,277

hereditary desmoid disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation

PMID:1316610 PMID:1324223 PMID:1338764 PMID:1944466 PMID:2068566 More...

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

catenin beta 1

ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation

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

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

Hereditary Paraganglioma-Pheochromocytoma Syndromes

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

diacylglycerol lipase alpha

ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes

PMID:22241717 PMID:26096992 PMID:28492532

NCBI chr11:56,979,558...57,046,589
Ensembl chr11:60,378,493...60,407,095

G

leucine rich repeat containing 10B

ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes

PMID:22241717 PMID:26096992 PMID:28492532

NCBI chr11:56,808,113...56,810,381
Ensembl chr11:60,169,003...60,171,543

G

MYC associated factor X

ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes

PMID:1459463 PMID:1730412 PMID:7630640 PMID:9115440 PMID:9536098 More...

NCBI chr14:45,588,366...45,683,828
Ensembl chr14:64,535,120...64,562,671

G

myelin protein zero

ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273

G

myelin regulatory factor

ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes

PMID:22241717 PMID:26096992 PMID:28492532

NCBI chr11:57,052,219...57,088,105
Ensembl chr11:60,412,780...60,448,579

G

stabilizer of axonemal microtubules 4

ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes

PMID:22241717 PMID:26096992 PMID:28492532

NCBI chr11:56,729,345...56,790,255
Ensembl chr11:60,114,172...60,152,494

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes

PMID:11423010 PMID:17298551 PMID:17376234 PMID:20484225 PMID:21858060 More...

G

succinate dehydrogenase complex assembly factor 2

ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes

PMID:6264239 PMID:6286462 PMID:9536098 PMID:16199547 PMID:17576681 More...

NCBI chr11:56,729,314...56,746,075
Ensembl chr11:60,093,656...60,110,288

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes

PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More...

NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes

PMID:9536098 PMID:12658451 PMID:12807974 PMID:15989954 PMID:16199547 More...

NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736

G

synaptotagmin 7

ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes

PMID:22241717 PMID:26096992 PMID:28492532

NCBI chr11:56,814,694...56,880,439
Ensembl chr11:60,175,403...60,242,375

G

transmembrane protein 127

ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes

PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 More...

NCBI chr2A:103,049,655...103,065,116
Ensembl chr2A:97,174,322...97,189,171

Hyperparathyroidism 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

beta-1,3-galactosyltransferase 2

ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors

NCBI chr 1:168,638,291...168,645,893
Ensembl chr 1:172,928,889...172,934,683

G

cell division cycle 73

ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors

PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More...

NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934

Infantile Capillary Hemangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ANTXR cell adhesion molecule 1

susceptibility

ClinVar Annotator: match by term: Capillary infantile hemangioma

PMID:18931684 PMID:25741868 PMID:28492532

NCBI chr2A:69,054,253...69,290,554
Ensembl chr2A:70,175,982...70,412,454

G

cyclin H

ClinVar Annotator: match by term: Capillary infantile hemangioma

NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149

G

FAT atypical cadherin 4

ClinVar Annotator: match by term: Capillary infantile hemangioma

PMID:25741868 PMID:28492532

NCBI chr 4:117,494,842...117,674,382
Ensembl chr 4:128,637,516...128,814,407

G

fms related receptor tyrosine kinase 4

ClinVar Annotator: match by term: Capillary infantile hemangioma

PMID:11807987 PMID:25741868 PMID:28492532

NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006

G

kinase insert domain receptor

susceptibility

ClinVar Annotator: match by term: Capillary infantile hemangioma

PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

myosin heavy chain 9

ClinVar Annotator: match by term: Capillary infantile hemangioma

NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618

G

RAS p21 protein activator 1

ClinVar Annotator: match by term: Capillary infantile hemangioma

NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321

G

solute carrier family 2 member 1

NCBI chr 1:42,224,273...42,257,184
Ensembl chr 1:43,600,733...43,634,143

G

vascular endothelial growth factor A

disease_progression

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

infantile myofibromatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 3

CTD Direct Evidence: marker/mechanism

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

G

platelet derived growth factor receptor beta

ClinVar Annotator: match by term: Congenital generalized fibromatosis | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile

PMID:9536098 PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 More...

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

Infantile Myofibromatosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 3

ClinVar Annotator: match by term: Myofibromatosis, infantile, 1

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

G

platelet derived growth factor receptor beta

ClinVar Annotator: match by term: Myofibromatosis, infantile, 1

PMID:12181311 PMID:15054839 PMID:23731537 PMID:23731542 PMID:25292412 More...

NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530

Infantile Myofibromatosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

notch receptor 3

ClinVar Annotator: match by term: Myofibromatosis, infantile, 2

PMID:3484396 PMID:8878478 PMID:9388399 PMID:11102981 PMID:11755616 More...

NCBI chr19:14,692,571...14,733,758
Ensembl chr19:15,678,674...15,715,080

insulinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenomedullin

protein:increased expression:pancreas, plasma

NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842

G

betacellulin

protein:increased expression:pancreas

NCBI chr 4:49,329,413...49,462,891
Ensembl chr 4:55,242,899...55,298,773

G

CD40 molecule

NCBI chr20:42,455,711...42,467,139
Ensembl chr20:43,541,619...43,552,994

G

cut like homeobox 1

disease_progression
exacerbates

mRNA:increased expression:pancreas (mouse)
protein:increased expression:pancreas (human)

NCBI chr 7:93,954,599...94,432,697
Ensembl chr 7:107,191,124...107,609,940

G

C-X-C motif chemokine ligand 12

protein:increased expression:pancreas

NCBI chr10:41,296,975...41,384,864
Ensembl chr10:44,552,480...44,564,231

G

insulin

protein:altered expression:blood
protein:altered localization:pancreas

PMID:2565624 PMID:8175958

RGD:2317266 RGD:2317268

NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666

G

small ribosomal subunit protein uS19

G

menin 1

disease_progression

DNA:deletion:exon
CTD Direct Evidence: marker/mechanism
DNA:deletions:exons

PMID:12941803 PMID:17961653 PMID:19208834 PMID:20138042

RGD:2317288 RGD:2317292 RGD:2317310

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

neural cell adhesion molecule 1

protein:increased expression:pancreas

NCBI chr11:107,845,507...108,160,441
Ensembl chr11:111,925,677...112,000,401

G

solute carrier family 2 member 2

mRNA:decreased expression:pancreatic islet
protein:increased expression:pancreatic B cell

PMID:8421107 PMID:12114701

RGD:2324976 RGD:2324977

NCBI chr 3:168,002,609...168,033,237
Ensembl chr 3:176,188,184...176,218,722

G

transforming growth factor alpha

protein:increased expression:pancreas

NCBI chr2A:70,510,727...70,617,628
Ensembl chr2A:71,625,196...71,731,461

G

transforming growth factor beta 1

mRNA, protein:decreased expression:pancreatic islet

NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973

intrahepatic cholangiocarcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma

PMID:24728327 PMID:25479140 PMID:25741868 PMID:26467025 PMID:26530882 More...

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

AT-rich interaction domain 1A

disease_progression
exacerbates

mRNA,protein:decreased expression:intrahepatic bile duct (human)

PMID:27433094 PMID:30849962 PMID:31665232

RGD:126775257 RGD:126781775 RGD:14974231

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

G

BRCA1 associated protein 1

disease_progression

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

beclin 1

disease_progression

NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286

G

B-Raf proto-oncogene, serine/threonine kinase

severity

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

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

Fas cell surface death receptor

disease_progression

NCBI chr10:85,707,457...85,741,539
Ensembl chr10:89,217,949...89,243,612

G

Fas ligand

severity

NCBI chr 1:148,159,826...148,167,785
Ensembl chr 1:151,868,430...151,876,281

G

forkhead box P3

DNA:hypomethylation:liver

NCBI chr X:41,550,462...41,567,492
Ensembl chr X:49,402,652...49,417,029

G

heat shock protein 90 alpha family class A member 1

disease_progression

protein:increased expression:liver (human)

NCBI chr14:82,700,881...82,707,020
Ensembl chr14:102,519,699...102,576,723

G

heat shock protein 90 alpha family class B member 1

disease_progression

protein:increased expression:liver (human)

NCBI chr 6:43,842,796...43,849,637
Ensembl chr 6:45,125,773...45,133,872

G

isocitrate dehydrogenase (NADP(+)) 1

no_association

DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human)

NCBI chr2B:95,475,320...95,494,286
Ensembl chr2B:213,599,036...213,617,175

G

isocitrate dehydrogenase (NADP(+)) 2

disease_progression

DNA:mutations: :
mRNA:decreased expression:liver (mouse)

PMID:22824796 PMID:32463951

RGD:149735894 RGD:14985256

NCBI chr15:68,771,050...68,790,523
Ensembl chr15:87,972,889...87,991,276

G

lysine demethylase 5C

exacerbates

protein:decreased expression:bile duct (human)

NCBI chr X:45,377,609...45,440,025
Ensembl chr X:53,515,886...53,548,785

G

KRAS proto-oncogene, GTPase

disease_progression

DNA:mutations::

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

lipocalin 2

treatment

Protein:increased expression:bile duct

NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798

G

LDL receptor related protein 1B

exacerbates

DNA:mutations:multiple: (human)

NCBI chr2B:17,702,178...19,611,567
Ensembl chr2B:144,382,759...146,221,243

G

membrane associated guanylate kinase, WW and PDZ domain containing 1

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr 3:65,257,763...65,932,527
Ensembl chr 3:66,635,580...66,757,358

G

polybromo 1

disease_progression

protein:increased expression:intrahepatic bile duct (human)

PMID:27864835 PMID:30377796

RGD:150340628 RGD:152998946

NCBI chr 3:52,487,083...52,626,418
Ensembl chr 3:53,718,051...53,850,146

G

phosphatase and tensin homolog

disease_progression

protein:decreased expression:liver (human)

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

ring finger protein 43

exacerbates

mRNA, protein:decreased expression:liver, bile duct epithelium (human)

NCBI chr17:52,420,516...52,492,813
Ensembl chr17:57,276,761...57,347,748

G

S100 calcium binding protein B

disease_progression

protein:increased expression:intrahepatic bile duct (human)

NCBI chr21:33,063,845...33,070,073
Ensembl chr21:46,197,750...46,203,953

G

SMAD family member 4

disease_progression

mRNA,protein:decreased expression:intrahepatic bile duct

PMID:16917866 PMID:23981608

RGD:18936999 RGD:21066336

NCBI chr18:44,402,112...44,456,779
Ensembl chr18:47,764,568...47,797,359

G

telomerase associated protein 1

mRNA:increased expression:hepatocyte,biliary epithelium.

NCBI chr14:1,240,370...1,285,787
Ensembl chr14:19,293,452...19,332,960

Kaposiform Hemangioendothelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor 2

NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942

G

G protein subunit alpha 14

ClinVar Annotator: match by term: Kaposiform hemangioendothelioma

PMID:25741868 PMID:27476652

NCBI chr 9:47,196,338...47,423,388

kidney angiomyolipoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mechanistic target of rapamycin kinase

treatment

associated with Tuberous Sclerosis

NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841

Klatskin's tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Klatskin tumor

PMID:25741868 PMID:28492532

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

AT-rich interaction domain 1A

disease_progression

DNA:deletions

NCBI chr 1:25,960,868...26,047,057
Ensembl chr 1:27,018,616...27,103,239

G

GATA binding protein 6

sexual_dimorphism

DNA:mutations

NCBI chr18:15,411,764...15,444,402

G

lysine methyltransferase 2C

onset

DNA:mutations

NCBI chr 7:143,714,716...144,016,188
Ensembl chr 7:155,862,610...156,081,043

G

KRAS proto-oncogene, GTPase

disease_progression

DNA:mutations

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2

sexual_dimorphism

DNA:substitutions, insertion/deletions: (human)

NCBI chr 8:64,489,817...64,769,602
Ensembl chr 8:66,215,974...66,430,138

leiomyoma cutis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fumarate hydratase

ClinVar Annotator: match by term: Multiple cutaneous leiomyomas

PMID:11865300 PMID:12761039 PMID:12772087 PMID:16237213 PMID:16575891 More...

NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212

leiomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anti-Mullerian hormone receptor type 2

protein:increased expression:myometrium

NCBI chr12:35,323,133...35,331,092
Ensembl chr12:36,107,501...36,115,175

G

cyclin dependent kinase inhibitor 2A

associated with Myometrial Neoplasms;protein:increased expression:myometrium

NCBI chr 9:21,803,862...21,831,322

G

checkpoint kinase 2

ClinVar Annotator: match by term: Leiomyosarcoma

PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 More...

NCBI chr22:9,757,038...9,811,171

G

colony stimulating factor 3

CTD Direct Evidence: therapeutic

NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729

G

dystrophin

CTD Direct Evidence: marker/mechanism

NCBI chr X:23,728,650...26,338,849
Ensembl chr X:31,282,415...33,492,733

G

fms related receptor tyrosine kinase 1

severity

Uterine; protein:increased expression:tumor:increased phospho-FLT1 level significantly associated with decreased survival rate (p=0.008)

NCBI chr13:9,584,850...9,779,542

G

high mobility group AT-hook 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:33,807,171...33,816,603

G

KIT proto-oncogene, receptor tyrosine kinase

Uterine; protein:increased expression:tumor:10/14 tumors (71%)

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

mediator complex subunit 12

DNA:missense mutations:cds:

NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942

G

prostaglandin-endoperoxide synthase 2

CTD Direct Evidence: marker/mechanism

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

G

telomerase reverse transcriptase

mRNA:increased expression:myometrium

Ensembl chr 5:1,300,960...1,338,872

G

ubiquitin specific peptidase 18

CTD Direct Evidence: marker/mechanism

G

5'-3' exoribonuclease 2

mRNA:increased expression:uterus (human)

NCBI chr20:21,260,871...21,347,430
Ensembl chr20:21,222,138...21,308,561

liver benign neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldolase, fructose-bisphosphate B

protein:increased activity:liver (rat)

NCBI chr 9:72,630,064...72,650,918
Ensembl chr 9:100,624,151...100,638,597

G

apolipoprotein B mRNA editing enzyme catalytic subunit 1

NCBI chr12:7,777,734...7,793,960
Ensembl chr12:7,939,262...7,944,203

G

chromobox 7

NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084

G

cyclin dependent kinase inhibitor 1A

protein:increased expression:liver

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

collagen type I alpha 1 chain

onset

mRNA:increased expression:liver (rat)

NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677

G

eukaryotic translation initiation factor 4 gamma 2

NCBI chr11:10,961,216...10,973,210
Ensembl chr11:10,656,795...10,668,956

G

heat shock protein family A (Hsp70) member 4

protein:increased expression:liver (rat)

NCBI chr 5:128,463,186...128,517,563
Ensembl chr 5:134,619,076...134,673,658

G

interleukin 10

treatment

NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371

G

lysine methyltransferase 5C

disease_progression

protein:decreased expression:liver

NCBI chr19:52,381,963...52,390,507
Ensembl chr19:61,073,396...61,078,717

G

histone H2AX

treatment

NCBI chr11:113,932,078...113,933,679

G

MET proto-oncogene, receptor tyrosine kinase

onset

mRNA, protein:increased expression:neoplastic liver (rat)

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

methylenetetrahydrofolate reductase

onset

mRNA:decreased expression:liver (rat)

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

NAD(P)H quinone dehydrogenase 1

NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731

G

alpha tocopherol transfer protein

mRNA:decreased expression:liver

NCBI chr 8:59,591,592...59,619,658
Ensembl chr 8:61,266,954...61,293,699

G

terminal uridylyl transferase 4

human cells in a mouse model

NCBI chr 1:51,684,408...51,815,059
Ensembl chr 1:53,292,477...53,422,893

lung adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anaphase promoting complex subunit 2

mRNA:decreased expression:lung (human)

NCBI chr 9:108,234,949...108,248,227
Ensembl chr 9:137,204,356...137,217,652

lymphangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Lymphangioma

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

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

fms related receptor tyrosine kinase 4

protein:increased expression:;lymphatic endothelial cell:

NCBI chr 5:175,804,728...175,852,703
Ensembl chr 5:183,115,856...183,149,006

G

kinase insert domain receptor

protein:increased expression:;lymphatic endothelial cell:

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

malignant fibrous histiocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PPARG coactivator 1 alpha

treatment

human cell line in mouse model

NCBI chr 4:18,196,431...18,876,889
Ensembl chr 4:23,483,377...23,581,212

G

RecQ like helicase 4

ClinVar Annotator: match by term: Malignant fibrous histiocytoma

PMID:12734318 PMID:12952869 PMID:25741868 PMID:28492532 PMID:31604778

Ensembl chr 8:144,267,101...144,276,985

Malignant Granular Cell Tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bromodomain containing 7

ClinVar Annotator: match by term: malignant granular cell tumor

NCBI chr16:30,576,449...30,630,409
Ensembl chr16:49,463,048...49,514,386

malignant peripheral nerve sheath tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

lysine demethylase 4B

DNA:amplification:cds (human)

NCBI chr19:3,986,296...4,172,359
Ensembl chr19:4,977,413...5,116,113

Microcephaly-Capillary Malformation Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

STAM binding protein

ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition

PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 More...

NCBI chr2A:73,900,128...73,936,571
Ensembl chr2A:75,410,434...75,451,086

Muir-Torre syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fragile histidine triad diadenosine triphosphatase

OMIM:158320

NCBI chr 3:59,670,777...61,177,974

G

mutL homolog 1

ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome

PMID:2414824 PMID:4063166 PMID:7705822 PMID:8198129 PMID:8571956 More...

NCBI chr 3:36,899,828...36,957,076
Ensembl chr 3:37,189,439...37,245,801

G

mutS homolog 2

ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome

PMID:6096739 PMID:7585065 PMID:7713503 PMID:8566964 PMID:8592341 More...

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

multiple cutaneous and mucosal venous malformations

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein alpha 4

ClinVar Annotator: match by term: Cutaneous venous malformation

NCBI chr 1:34,059,901...34,063,181

G

TEK receptor tyrosine kinase

ClinVar Annotator: match by term: Multiple cutaneous and mucosal venous malformations | ClinVar Annotator: match by term: Segmental undergrowth associated with venous malformation without capillary component

PMID:7783168 PMID:7833915 PMID:8415706 PMID:8980225 PMID:9926914 More...

NCBI chr 9:26,955,339...27,077,809
Ensembl chr 9:27,561,421...27,683,572

Multiple Fibroadenomas of the Breast

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

prolactin receptor

ClinVar Annotator: match by term: Multiple fibroadenomas of the breast

PMID:18779591 PMID:25741868

NCBI chr 5:75,139,852...75,321,695
Ensembl chr 5:80,532,058...80,600,403

Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

platelet derived growth factor receptor alpha

ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal

PMID:3152525 PMID:3152526 PMID:12522257 PMID:14645423 PMID:14699510 More...

NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097

myoepithelioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine monophosphate deaminase 3

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr11:10,581,730...10,638,777
Ensembl chr11:10,309,436...10,365,369

G

Rho/Rac guanine nucleotide exchange factor 2

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 1:131,282,514...131,326,535
Ensembl chr 1:135,112,040...135,159,299

G

Rho guanine nucleotide exchange factor 40

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr14:1,884,772...1,904,120
Ensembl chr14:19,969,664...19,985,466

G

ariadne RBR E3 ubiquitin protein ligase 2

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 3:48,844,161...48,910,183
Ensembl chr 3:49,926,453...49,991,924

G

acetylserotonin O-methyltransferase like

ClinVar Annotator: match by term: Myoepithelial tumor

Ensembl chr X:1,534,754...1,588,735

G

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Myoepithelial tumor

PMID:15016963 PMID:15753399 PMID:19404918 PMID:21750866 PMID:24033266 More...

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

coiled-coil domain containing 28A

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 6:136,533,841...136,553,303
Ensembl chr 6:140,619,716...140,638,830

G

cell division cycle associated 2

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 8:24,739,705...24,788,898
Ensembl chr 8:21,650,086...21,697,584

G

CUB domain containing protein 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 3:44,982,974...45,048,814
Ensembl chr 3:46,097,391...46,130,929

G

CUGBP Elav-like family member 4

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr18:30,495,149...30,818,358
Ensembl chr18:34,068,123...34,374,372

G

chloride intracellular channel 6

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr21:21,041,763...21,089,958

G

claspin

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 1:34,991,082...35,040,515
Ensembl chr 1:36,182,726...36,218,544

G

collagen type IV alpha 2 chain

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530

G

coronin 2A

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 9:69,210,625...69,282,434
Ensembl chr 9:97,335,026...97,368,204

G

death associated protein kinase 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958

G

dachsous cadherin-related 1

ClinVar Annotator: match by term: Myoepithelial tumor

PMID:28492532 PMID:32381727

NCBI chr11:6,753,383...6,787,896
Ensembl chr11:6,436,536...6,456,352

G

dual specificity tyrosine phosphorylation regulated kinase 1B

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr19:36,857,223...36,866,099
Ensembl chr19:45,405,431...45,411,387

G

EH domain binding protein 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr2A:62,784,756...63,122,396
Ensembl chr2A:63,882,029...64,250,914

G

ELOVL fatty acid elongase 5

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 6:52,822,038...52,902,122
Ensembl chr 6:54,451,887...54,485,878

G

EPH receptor B6

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 7:134,845,936...134,862,114
Ensembl chr 7:147,337,558...147,353,575

G

epiplakin 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 8:140,611,627...140,640,303

G

ETS variant transcription factor 5

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 3:183,076,677...183,139,886
Ensembl chr 3:191,545,915...191,606,550

G

EYA transcriptional coactivator and phosphatase 4

ClinVar Annotator: match by term: Myoepithelial tumor

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 6:131,016,143...131,306,251
Ensembl chr 6:135,116,978...135,404,403

G

family with sequence similarity 168 member B

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr2B:29,717,246...29,762,842
Ensembl chr2B:131,801,321...131,835,725

G

Fraser extracellular matrix complex subunit 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 4:45,650,346...46,138,222
Ensembl chr 4:51,500,396...51,981,476

G

formimidoyltransferase cyclodeaminase

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr21:32,481,042...32,501,932
Ensembl chr21:45,734,825...45,753,400

G

gamma-aminobutyric acid type A receptor subunit beta3

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr15:3,129,481...3,357,495
Ensembl chr15:23,981,359...24,058,357

G

glutamate ionotropic receptor NMDA type subunit 3A

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 9:72,773,866...72,943,790
Ensembl chr 9:100,767,715...100,941,323

G

glycosyltransferase like domain containing 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr2B:15,512,420...15,899,477
Ensembl chr2B:148,026,117...148,312,426

G

hyaluronan synthase 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr19:48,657,165...48,668,130
Ensembl chr19:57,537,049...57,547,804

G

HIVEP zinc finger 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 6:11,847,552...12,003,710
Ensembl chr 6:12,286,017...12,363,803

G

histamine receptor H2

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 5:171,004,893...171,057,539
Ensembl chr 5:177,928,039...177,931,566

G

intraflagellar transport 140

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr16:130,150...232,369
Ensembl chr16:1,566,824...1,658,884

G

insulin like growth factor 2 receptor

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 6:157,852,565...157,990,049
Ensembl chr 6:162,878,661...162,997,762

G

immunoglobulin superfamily member 3

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 1:85,852,214...85,989,556

G

integrator complex subunit 3

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 1:129,084,681...129,130,669
Ensembl chr 1:132,714,200...132,759,842

G

integrin subunit alpha L

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr16:24,445,966...24,496,037
Ensembl chr16:30,843,747...30,892,597

G

integrin subunit beta 4

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr17:69,671,252...69,708,520
Ensembl chr17:75,222,376...75,259,401

G

potassium inwardly rectifying channel subfamily J member 10

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 1:135,391,321...135,424,100

G

La ribonucleoprotein 4B

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr10:842,621...966,106
Ensembl chr10:894,957...971,154

G

leukocyte receptor cluster member 9

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr19:51,408,645...51,411,271

G

leucine rich repeat and Ig domain containing 3

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr19:1,299,345...1,317,706

G

keratin-associated protein 10-11

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr21:30,940,722...30,942,340
Ensembl chr21:44,235,427...44,236,323

G

LDL receptor related protein 10

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr14:3,688,934...3,698,778
Ensembl chr14:21,788,345...21,795,936

G

LRR binding FLII interacting protein 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr2B:124,856,660...125,013,602
Ensembl chr2B:243,775,371...243,863,116

G

mannosidase alpha class 2B member 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr19:12,208,319...12,228,934
Ensembl chr19:12,954,103...12,974,056

G

multifunctional ROCO family signaling regulator 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 8:10,318,455...10,428,469

G

MLX interacting protein like

ClinVar Annotator: match by term: Myoepithelial tumor

Ensembl chr 7:80,745,765...80,776,153

G

matrix metallopeptidase 26

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr11:5,154,066...5,158,891
Ensembl chr11:4,823,666...4,828,035

G

mitochondrial ribosome recycling factor

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 9:93,389,726...93,448,596
Ensembl chr 9:121,730,783...121,790,157

G

napsin A aspartic peptidase

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr19:47,321,581...47,333,307
Ensembl chr19:56,225,421...56,232,822

G

nuclear receptor subfamily 3 group C member 2

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 4:140,418,624...140,785,180
Ensembl chr 4:152,108,508...152,430,298

G

nuclear mitotic apparatus protein 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr11:67,083,378...67,160,747
Ensembl chr11:70,307,847...70,384,425

G

OXA1L mitochondrial inner membrane protein

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr14:3,584,220...3,589,360
Ensembl chr14:21,683,983...21,689,101

G

protein kinase C and casein kinase substrate in neurons 2

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr22:23,757,565...23,900,837
Ensembl chr22:41,908,922...41,999,692

G

prolyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 1:54,032,594...54,040,274
Ensembl chr 1:55,622,726...55,624,750

G

PLAG1 like zinc finger 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 6:141,715,599...141,841,862
Ensembl chr 6:146,435,622...146,480,224

G

DNA polymerase epsilon, catalytic subunit

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr12:129,975,750...130,038,402
Ensembl chr12:134,695,976...134,758,650

G

prostaglandin F receptor

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 1:77,714,164...77,762,171
Ensembl chr 1:79,794,831...79,841,467

G

protein tyrosine phosphatase non-receptor type 21

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr14:69,085,843...69,174,659
Ensembl chr14:88,444,261...88,528,951

G

rabaptin, RAB GTPase binding effector protein 2

ClinVar Annotator: match by term: Myoepithelial tumor

Ensembl chr16:29,289,949...29,314,177

G

RAD50 double strand break repair protein

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 5:127,972,630...128,059,911
Ensembl chr 5:134,134,495...134,222,261

G

RNA binding motif protein 12B

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 8:90,355,185...90,364,933

G

RNA binding motif protein 4

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr11:61,996,221...62,026,007
Ensembl chr11:65,298,404...65,349,183

G

RecQ like helicase 5

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr17:69,577,778...69,618,068
Ensembl chr17:75,128,325...75,168,254

G

ribosomal protein L36

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr19:4,707,396...4,708,897
Ensembl chr19:5,643,030...5,644,360

G

sacsin molecular chaperone

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr13:4,642,078...4,745,453
Ensembl chr13:22,937,320...22,982,553

G

sodium channel epithelial 1 subunit gamma

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr16:14,893,631...14,928,402
Ensembl chr16:23,435,793...23,469,969

G

SUMO specific peptidase 3

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr17:7,593,904...7,603,538
Ensembl chr17:7,580,106...7,589,838

G

solute carrier family 27 member 5

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr19:55,507,455...55,520,448
Ensembl chr19:64,329,567...64,342,630

G

solute carrier family 7 member 2

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 8:16,723,227...16,788,745
Ensembl chr 8:13,671,571...13,735,645

G

structural maintenance of chromosomes 1B

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr22:26,229,904...26,299,559
Ensembl chr22:44,410,118...44,479,513

G

sperm antigen with calponin homology and coiled-coil domains 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr17:30,800,973...31,114,322
Ensembl chr17:35,951,060...36,253,178

G

spen family transcriptional repressor

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 1:14,987,415...15,079,477
Ensembl chr 1:16,004,473...16,072,585

G

STIL centriolar assembly protein

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 1:46,551,592...46,639,668
Ensembl chr 1:48,072,728...48,137,071

G

stonin 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr2A:48,656,425...48,722,288
Ensembl chr2A:49,577,562...49,721,845

G

synaptotagmin 7

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr11:56,814,694...56,880,439
Ensembl chr11:60,175,403...60,242,375

G

transport and golgi organization 6 homolog

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr16:49,214,359...49,456,454
Ensembl chr16:68,605,597...68,844,467

G

tyrosyl-DNA phosphodiesterase 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr14:70,574,066...70,662,562
Ensembl chr14:89,926,462...90,014,802

G

teneurin transmembrane protein 3

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 4:173,644,674...174,993,218
Ensembl chr 4:186,738,624...187,214,394

G

testis expressed 15, meiosis and synapsis associated

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 8:30,145,628...30,232,903
Ensembl chr 8:27,334,129...27,420,049

G

transforming growth factor beta receptor 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr 9:70,195,007...70,243,514
Ensembl chr 9:98,332,739...98,362,748

G

talin 2

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr15:41,337,084...41,790,949
Ensembl chr15:59,892,920...60,088,414

G

transmembrane and coiled-coil domain family 3

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr12:92,150,075...92,233,394
Ensembl chr12:95,508,740...95,556,182

G

transmembrane protein 121

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr14:86,181,558...86,185,176

G

tankyrase 1 binding protein 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr11:52,541,056...52,566,544
Ensembl chr 3:160,029,550...160,054,494

G

transient receptor potential cation channel subfamily M member 4

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr19:46,168,301...46,224,726
Ensembl chr19:55,095,029...55,150,464

G

transient receptor potential cation channel subfamily V member 4

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr12:107,359,005...107,409,359
Ensembl chr12:110,754,238...110,786,182

G

testis specific serine kinase substrate

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr19:46,753,614...46,776,505
Ensembl chr19:55,672,894...55,694,031

G

thrombospondin type laminin G domain and EAR repeats

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr21:30,791,051...31,005,330
Ensembl chr21:44,087,591...44,299,041

G

VAC14 component of PIKFYVE complex

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr16:54,216,303...54,330,073
Ensembl chr16:70,520,440...70,634,143

G

vasoactive intestinal peptide receptor 2

ClinVar Annotator: match by term: Myoepithelial tumor

Ensembl chr 7:162,306,477...162,422,788

G

YLP motif containing 1

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr14:55,315,429...55,388,330
Ensembl chr14:74,160,867...74,232,769

G

zinc finger protein 668

ClinVar Annotator: match by term: Myoepithelial tumor

NCBI chr16:23,893,617...23,906,552
Ensembl chr16:31,425,412...31,442,494

Nasopalpebral Lipoma Coloboma Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger DBF-type containing 2

ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome

PMID:23636874 PMID:27139419

NCBI chr2B:93,516,875...93,556,652
Ensembl chr2B:211,645,765...211,685,047

nephroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dicer 1, ribonuclease III

DNA:mutations: :

NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940

neurilemmoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase family AAA domain containing 5

mRNA:increased expression:neural tissue (human)

NCBI chr17:25,944,259...26,009,317
Ensembl chr17:25,436,195...25,496,242

G

AXL receptor tyrosine kinase

CTD Direct Evidence: marker/mechanism

NCBI chr19:38,211,555...38,254,464
Ensembl chr19:46,719,615...46,761,747

G

cyclin dependent kinase inhibitor 2A

DNA,protein:deletion,decreased expression: :

NCBI chr 9:21,803,862...21,831,322

G

embryonic ectoderm development

CTD Direct Evidence: marker/mechanism

NCBI chr11:81,295,068...81,330,321
Ensembl chr11:84,902,330...84,937,906

G

kinase insert domain receptor

mRNA:decreased expression:brain:

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

G

polycomb protein SUZ12

CTD Direct Evidence: marker/mechanism

NCBI chr17:24,790,921...24,853,790

G

leucine zipper like post translational regulator 1

DNA:missense mutation:cds,multiple (human)

NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007

G

neurofibromin 1

CTD Direct Evidence: marker/mechanism

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

DNA:loss of heterozygosity

NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013

G

platelet and endothelial cell adhesion molecule 1

severity

protein:increased expression:tumor (human)

NCBI chr17:58,417,134...58,526,409
Ensembl chr17:63,511,784...63,579,067

G

serpin family E member 1

mRNA,protein:increased expression:schwann cell

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

SIX homeobox 1

mRNA:increased expression:Schwann cell (human)

NCBI chr14:41,250,512...41,256,567
Ensembl chr14:59,515,324...59,527,494

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

ClinVar Annotator: match by term: Schwannoma

PMID:18647326 PMID:22434358 PMID:22949514 PMID:24933152 PMID:25631985 More...

NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921

G

synuclein alpha

protein:increased expression:cytoplasm

NCBI chr 4:82,018,585...82,132,938
Ensembl chr 4:92,737,608...92,850,600

G

WT1 transcription factor

CTD Direct Evidence: therapeutic

NCBI chr11:32,349,807...32,398,494
Ensembl chr11:32,238,720...32,287,249

Nuchal Bleb, Familial

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

CF transmembrane conductance regulator

ClinVar Annotator: match by term: Fetal cystic hygroma

PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 More...

NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Fetal cystic hygroma

PMID:25741868 PMID:25741905 PMID:25795793 PMID:28492532 PMID:30368668 More...

NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007

G

SOS Ras/Rac guanine nucleotide exchange factor 1

ClinVar Annotator: match by term: Nuchal bleb, familial

PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 More...

NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961

ossifying fibroma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle 73

ClinVar Annotator: match by term: Ossifying fibroma of the jaw

NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934

oxyphilic adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KIT proto-oncogene, receptor tyrosine kinase

mRNA:increased expression:tumor:positive in 7/8 renal oncocytomas

NCBI chr 4:69,199,543...69,282,323
Ensembl chr 4:75,761,946...75,844,473

G

keratin 7

CTD Direct Evidence: marker/mechanism

NCBI chr12:36,514,021...36,529,721
Ensembl chr12:37,291,244...37,307,341

G

parvalbumin

CTD Direct Evidence: marker/mechanism

NCBI chr22:17,715,109...17,731,587
Ensembl chr22:35,551,448...35,568,316

pancreatic mucinous cystadenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

KRAS proto-oncogene, GTPase

severity

DNA:mutations:cds:

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

papillary tumor of the pineal region

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Papillary tumor of the pineal region

PMID:10866302 PMID:11051241 PMID:12614768 PMID:17942903 PMID:21194675 More...

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

paraganglioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRCA1 associated protein 1

CTD Direct Evidence: marker/mechanism

NCBI chr 3:52,344,067...52,352,187
Ensembl chr 3:53,573,785...53,581,943

G

baculoviral IAP repeat containing 2

exacerbates

mRNA:increased expression:adrenal gland, chromaffin cell (human)

NCBI chr11:97,298,736...97,324,966
Ensembl chr11:100,793,036...100,822,421

G

cyclin dependent kinase inhibitor 1B

NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541

G

diacylglycerol lipase alpha

ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas

PMID:22241717 PMID:26096992 PMID:28492532

NCBI chr11:56,979,558...57,046,589
Ensembl chr11:60,378,493...60,407,095

G

leucine rich repeat containing 10B

ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas

PMID:22241717 PMID:26096992 PMID:28492532

NCBI chr11:56,808,113...56,810,381
Ensembl chr11:60,169,003...60,171,543

G

MYC associated factor X

ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant

PMID:1459463 PMID:1730412 PMID:7630640 PMID:9115440 PMID:9536098 More...

NCBI chr14:45,588,366...45,683,828
Ensembl chr14:64,535,120...64,562,671

G

myelin protein zero

ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas

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

NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273

G

myelin regulatory factor

ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas

PMID:22241717 PMID:26096992 PMID:28492532

NCBI chr11:57,052,219...57,088,105
Ensembl chr11:60,412,780...60,448,579

G

NLR family apoptosis inhibitory protein

exacerbates

mRNA:increased expression:adrenal gland, chromaffin cell (human)

NCBI chr 5:44,345,623...44,401,358
Ensembl chr 5:45,920,125...45,973,937

G

stabilizer of axonemal microtubules 4

ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas

PMID:22241717 PMID:26096992 PMID:28492532

NCBI chr11:56,729,345...56,790,255
Ensembl chr11:60,114,172...60,152,494

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas

PMID:11423010 PMID:17298551 PMID:17376234 PMID:20484225 PMID:21858060 More...

G

succinate dehydrogenase complex assembly factor 2

ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant

PMID:6264239 PMID:6286462 PMID:9536098 PMID:16199547 PMID:17576681 More...

NCBI chr11:56,729,314...56,746,075
Ensembl chr11:60,093,656...60,110,288

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata

PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More...

NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas

PMID:9536098 PMID:12658451 PMID:12807974 PMID:15989954 PMID:16199547 More...

NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736

G

somatostatin receptor 2

CTD Direct Evidence: marker/mechanism

NCBI chr17:67,093,013...67,099,086
Ensembl chr17:72,553,506...72,554,615

G

synaptotagmin 7

ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas

PMID:22241717 PMID:26096992 PMID:28492532

NCBI chr11:56,814,694...56,880,439
Ensembl chr11:60,175,403...60,242,375

G

transmembrane protein 127

ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata

PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 More...

NCBI chr2A:103,049,655...103,065,116
Ensembl chr2A:97,174,322...97,189,171

Paragangliomas 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

succinate dehydrogenase complex assembly factor 2

ClinVar Annotator: match by term: Glomus tumors, familial, 2 | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 2 | ClinVar Annotator: match by term: Paragangliomas 2

PMID:6264239 PMID:6286462 PMID:9536098 PMID:17576681 PMID:19628817 More...

NCBI chr11:56,729,314...56,746,075
Ensembl chr11:60,093,656...60,110,288

Paragangliomas 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

myelin protein zero

ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3

PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More...

NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal
ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal
ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal

PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More...

NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3 | ClinVar Annotator: match by term: Paragangliomas 3
ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal
ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3
ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal

PMID:9536098 PMID:11062460 PMID:12658451 PMID:12807974 PMID:15342702 More...

NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736

Paragangliomas 4

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

peptidyl arginine deiminase 2

ClinVar Annotator: match by term: Paragangliomas 4

NCBI chr 1:16,011,708...16,064,344
Ensembl chr 1:17,067,729...17,120,513

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 | ClinVar Annotator: match by term: Paragangliomas 4 | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal

PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More...

NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

Paragangliomas 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5 | ClinVar Annotator: match by term: Paragangliomas 5

PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 More...

G

zinc finger MYND-type containing 11

ClinVar Annotator: match by term: Paragangliomas 5

NCBI chr10:139,879...264,711
Ensembl chr10:226,880...346,369

Paragangliomas 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

solute carrier family 25 member 11

ClinVar Annotator: match by term: Paragangliomas 6

NCBI chr17:4,985,477...4,988,348
Ensembl chr17:4,973,000...4,975,878

Paragangliomas 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dihydrolipoamide S-succinyltransferase

ClinVar Annotator: match by term: Paragangliomas 7

PMID:25741868 PMID:30929736

NCBI chr14:55,433,358...55,455,876
Ensembl chr14:74,278,128...74,300,133

paranasal sinus benign neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A1

NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779

G

annexin A2

disease_progression

NCBI chr15:39,322,303...39,371,565
Ensembl chr15:57,625,425...57,674,250

G

tumor protein p53

treatment

DNA:mutations:cds:

PMID:22575263 PMID:23369851

RGD:8547763 RGD:8547764

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

parathyroid adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium sensing receptor

ClinVar Annotator: match by term: Parathyroid adenoma

PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 More...

NCBI chr 3:119,278,071...119,383,901
Ensembl chr 3:126,252,765...126,285,268

G

cell division cycle 73

ClinVar Annotator: match by term: Parathyroid adenoma, somatic

PMID:12434154 PMID:15531515 PMID:16061557 PMID:16199547 PMID:25741868 More...

NCBI chr 1:168,581,730...168,710,915
Ensembl chr 1:172,875,365...173,004,934

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Parathyroid adenoma

PMID:25741868 PMID:35738466

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Parathyroid adenoma

PMID:25741868 PMID:35738466

NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

menin 1

ClinVar Annotator: match by term: Parathyroid adenoma, somatic

PMID:9241276 PMID:9820618 PMID:12016472 PMID:20231234 PMID:28492532

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

penile benign neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin D1

protein:increased expression:nucleus

NCBI chr11:64,737,006...64,750,353

G

prostaglandin E synthase

protein:increased expression:penis, skin

NCBI chr 9:100,865,702...100,880,408
Ensembl chr 9:129,522,547...129,537,020

G

DNA topoisomerase II alpha

severity

NCBI chr17:16,872,169...16,901,605
Ensembl chr17:17,097,778...17,126,207

pheochromocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adrenoceptor alpha 2B

ClinVar Annotator: match by term: Pheochromocytoma

NCBI chr2A:103,198,432...103,202,506
Ensembl chr2A:97,040,126...97,041,472

G

astacin like metalloendopeptidase

ClinVar Annotator: match by term: Pheochromocytoma

NCBI chr2A:103,176,662...103,192,542
Ensembl chr2A:97,049,184...97,063,747

G

cyclin dependent kinase inhibitor 1B

NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541

G

cilia and flagella associated protein 126

ClinVar Annotator: match by term: Pheochromocytoma

NCBI chr 1:136,774,574...136,777,713
Ensembl chr 1:140,685,157...140,688,063

G

chromogranin A

disease_progression

CTD Direct Evidence: marker/mechanism

PMID:2189303 PMID:11116123

NCBI chr14:73,555,834...73,568,547
Ensembl chr14:92,895,450...92,908,159

G

catechol-O-methyltransferase

CTD Direct Evidence: marker/mechanism

NCBI chr22:2,704,015...2,731,326
Ensembl chr22:18,375,434...18,402,387

G

dopamine beta-hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 9:104,761,504...104,784,445
Ensembl chr 9:133,371,821...133,393,697

G

dopa decarboxylase

CTD Direct Evidence: marker/mechanism

NCBI chr 7:51,101,169...51,206,031
Ensembl chr 7:51,345,228...51,449,710

G

deleted in malignant brain tumors 1

mRNA:decreased expression

NCBI chr10:119,129,440...119,200,232
Ensembl chr10:122,540,855...123,474,497

G

dual specificity phosphatase 2

ClinVar Annotator: match by term: Pheochromocytoma

NCBI chr2A:103,169,874...103,172,158

G

farnesyltransferase, CAAX box, subunit beta

ClinVar Annotator: match by term: Pheochromocytoma

NCBI chr14:45,568,511...45,643,952
Ensembl chr14:64,448,170...64,522,632

G

glial cell derived neurotrophic factor

CTD Direct Evidence: marker/mechanism

NCBI chr 5:72,539,374...72,566,918
Ensembl chr 5:77,577,313...77,601,362

G

glycerol-3-phosphate acyltransferase 2, mitochondrial

ClinVar Annotator: match by term: Pheochromocytoma

NCBI chr2A:103,278,885...103,293,021

G

hydroxysteroid 17-beta dehydrogenase 10

NCBI chr X:45,645,849...45,649,039
Ensembl chr X:53,754,164...53,757,643

G

kinesin family member 1B

ClinVar Annotator: match by term: Pheochromocytoma

PMID:24033266 PMID:25741868 PMID:26392352 PMID:28492532 PMID:32376792 More...

NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577
Ensembl chr 1:10,198,997...10,364,577

G

L1 cell adhesion molecule

mRNA,protein:increased expression:adrenal medulla:

NCBI chr X:143,412,303...143,437,090
Ensembl chr X:153,298,690...153,324,228

G

monoamine oxidase A

CTD Direct Evidence: marker/mechanism

NCBI chr X:36,106,680...36,197,907
Ensembl chr X:43,931,044...44,022,199

G

monoamine oxidase B

CTD Direct Evidence: marker/mechanism

NCBI chr X:36,217,710...36,333,516
Ensembl chr X:44,042,000...44,157,941

G

MYC associated factor X

ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to

PMID:1459463 PMID:1730412 PMID:7630640 PMID:9536098 PMID:17576681 More...

NCBI chr14:45,588,366...45,683,828
Ensembl chr14:64,535,120...64,562,671

G

myelin protein zero

ClinVar Annotator: match by term: Pheochromocytoma

PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More...

NCBI chr 1:136,691,245...136,720,958
Ensembl chr 1:140,626,039...140,631,273

G

neurofibromin 1

ClinVar Annotator: match by term: Pheochromocytoma

PMID:1568247 PMID:8264648 PMID:8499944 PMID:8499945 PMID:8669813 More...

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

ret proto-oncogene

ClinVar Annotator: match by term: Pheochromocytoma
ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to

PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 More...

NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Pheochromocytoma

PMID:16199547 PMID:22974104 PMID:24781757 PMID:25741868 PMID:26556299 More...

G

succinate dehydrogenase complex assembly factor 2

ClinVar Annotator: match by term: Pheochromocytoma

NCBI chr11:56,729,314...56,746,075
Ensembl chr11:60,093,656...60,110,288

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to

PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More...

NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Pheochromocytoma

PMID:12807974 PMID:17468193 PMID:19454582 PMID:22517554 PMID:22703879 More...

NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736

G

StAR related lipid transfer domain containing 7

ClinVar Annotator: match by term: Pheochromocytoma

NCBI chr2A:103,106,863...103,130,490
Ensembl chr2A:97,111,420...97,132,081

G

tyrosine hydroxylase

CTD Direct Evidence: marker/mechanism

NCBI chr11:2,204,820...2,212,750
Ensembl chr11:2,231,248...2,242,433

G

transmembrane protein 127

susceptibility

ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to

PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 More...

NCBI chr2A:103,049,655...103,065,116
Ensembl chr2A:97,174,322...97,189,171

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: Pheochromocytoma

PMID:7563486 PMID:7660122 PMID:7728151 PMID:7759077 PMID:7784063 More...

NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

pilocytic astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

folliculin

ClinVar Annotator: match by term: Pilocytic astrocytoma

PMID:15852235 PMID:16199547 PMID:25741868 PMID:28492532

NCBI chr17:34,057,127...34,081,637
Ensembl chr17:38,988,518...39,013,160

G

KRAS proto-oncogene, GTPase

ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic

PMID:12460918 PMID:15696205 PMID:16247081 PMID:16361624 PMID:16618717 More...

NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335

G

neurofibromin 1

ClinVar Annotator: match by term: Pilocytic astrocytoma

PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

partner and localizer of BRCA2

ClinVar Annotator: match by term: Pilocytic astrocytoma

PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506 PMID:32546565

NCBI chr16:14,470,367...14,507,841
Ensembl chr16:23,855,535...23,892,117

G

ret proto-oncogene

ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic

PMID:25741868 PMID:28492532

NCBI chr10:40,050,396...40,103,629
Ensembl chr10:43,249,468...43,284,331

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic

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

pilomatrixoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

catenin beta 1

ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma

PMID:9065402 PMID:9065403 PMID:9294210 PMID:9927029 PMID:10027390 More...

NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030

G

mutY DNA glycosylase

ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma

PMID:186631 PMID:11801590 PMID:11818965 PMID:12606733 PMID:12917422 More...

NCBI chr 1:44,632,102...44,643,292
Ensembl chr 1:45,990,588...46,002,645

G

ovo like transcriptional repressor 1

CTD Direct Evidence: marker/mechanism

NCBI chr11:61,144,969...61,156,706
Ensembl chr11:64,478,549...64,488,647

G

ovo like zinc finger 2

CTD Direct Evidence: marker/mechanism

NCBI chr20:17,983,277...18,019,441
Ensembl chr20:17,962,123...17,994,486

pilomyxoid astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Pilomyxoid astrocytoma

PMID:25705862 PMID:25741868 PMID:26619011 PMID:26942290 PMID:28492532 More...

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

pineoblastoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Pineoblastoma

PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:24909177 More...

NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940

pituitary adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

arginine vasopressin receptor 1B

NCBI chr 1:181,713,548...181,723,645
Ensembl chr 1:185,999,627...186,007,043

G

cyclin dependent kinase inhibitor 1B

NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541

G

G protein-coupled receptor kinase 2

mRNA:altered expression:pituitary gland (human)

NCBI chr11:62,624,647...62,644,846
Ensembl chr11:65,939,164...65,959,066

pituitary adenoma 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl hydrocarbon receptor interacting protein

ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma predisposition

PMID:2200621 PMID:16728643 PMID:17242703 PMID:17244780 PMID:17341560 More...

NCBI chr11:62,841,377...62,849,664
Ensembl chr11:66,152,670...66,160,898

pituitary adenoma 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

GNAS complex locus

ClinVar Annotator: match by term: Pituitary adenoma 3, multiple types

PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 More...

NCBI chr20:55,190,607...55,262,245

pituitary adenoma 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aryl hydrocarbon receptor interacting protein

ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types

PMID:25741868 PMID:28492532

NCBI chr11:62,841,377...62,849,664
Ensembl chr11:66,152,670...66,160,898

G

chromosome 8 C10orf105 homolog

ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types

PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:16199547 More...

NCBI chr10:68,182,453...68,190,718

G

cadherin-23

ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types

PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 More...

NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240

G

menin 1

ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types

PMID:25741868 PMID:28492532

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

V-set immunoregulatory receptor

ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types

NCBI chr10:68,218,230...68,243,687
Ensembl chr10:70,742,062...70,767,613

pleomorphic adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

PLAG1 zinc finger

NCBI chr 8:52,607,398...52,657,808
Ensembl chr 8:49,983,627...50,028,591

pleomorphic xanthoastrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aminoadipate-semialdehyde synthase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:114,084,792...114,155,558
Ensembl chr 7:126,769,655...126,840,346

G

ATP binding cassette subfamily A member 13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:48,812,624...49,288,605
Ensembl chr 7:48,920,381...49,393,235

G

ATP binding cassette subfamily B member 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:79,497,536...79,706,277
Ensembl chr 7:93,147,950...93,243,238

G

ATP binding cassette subfamily B member 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:79,395,924...79,469,755
Ensembl chr 7:93,046,085...93,119,439

G

ATP binding cassette subfamily B member 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:21,302,954...21,432,569
Ensembl chr 7:20,620,875...20,746,634

G

abhydrolase domain containing 11

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:80,889,063...80,891,826

G

acetylcholinesterase (Yt blood group)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,915,065...92,922,079
Ensembl chr 7:106,311,944...106,318,184

G

actin like 6B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,670,166...92,683,571
Ensembl chr 7:106,070,839...106,083,646

G

ADAM metallopeptidase domain 22

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:79,930,613...80,197,498
Ensembl chr 7:93,579,306...93,840,484

G

aarF domain containing kinase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:132,605,620...132,627,786
Ensembl chr 7:145,078,335...145,100,739

G

adenylate cyclase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:46,289,042...46,436,839
Ensembl chr 7:46,354,640...46,492,549

G

ADCYAP receptor type I

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:31,597,251...31,724,299
Ensembl chr 7:31,784,622...31,843,381

G

AE binding protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:44,818,620...44,828,914
Ensembl chr 7:44,886,238...44,896,194

G

AGBL carboxypeptidase 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:126,951,316...127,100,608

G

ArfGAP with FG repeats 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,566,281...92,595,374
Ensembl chr 7:105,967,731...105,997,467

G

alkylglycerol monooxygenase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:15,863,957...16,219,070
Ensembl chr 7:15,180,426...15,549,016

G

anterior gradient 2, protein disulphide isomerase family member

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:17,446,275...17,489,802
Ensembl chr 7:16,773,281...16,785,879

G

anterior gradient 3, protein disulphide isomerase family member

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:17,515,172...17,542,041
Ensembl chr 7:16,839,790...16,864,274

G

adenosylhomocysteinase like 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:121,180,259...121,387,972
Ensembl chr 7:133,704,551...133,909,907

G

aryl hydrocarbon receptor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:17,949,254...17,998,737
Ensembl chr 7:17,278,637...17,326,171

G

A-kinase anchoring protein 9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:83,942,590...84,108,648
Ensembl chr 7:97,540,356...97,705,608

G

aldo-keto reductase family 1 member B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:126,400,861...126,417,756
Ensembl chr 7:138,912,953...138,924,095

G

aldo-keto reductase family 1 member B10

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:126,486,012...126,499,852
Ensembl chr 7:138,992,835...139,006,003

G

aldo-keto reductase family 1 member D1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:130,023,017...130,076,397
Ensembl chr 7:142,525,467...142,571,331

G

alkB homolog 4, lysine demethylase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:94,596,641...94,605,369

G

ankyrin repeat and IBR domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:84,243,929...84,399,358
Ensembl chr 7:97,841,233...97,995,816

G

ankyrin repeat and MYND domain containing 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:17,255,793...17,301,997
Ensembl chr 7:16,581,308...16,628,359

G

ankyrin repeat domain 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:110,189,898...110,209,035
Ensembl chr 7:122,885,689...122,903,383

G

anillin, actin binding protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:37,011,518...37,075,349
Ensembl chr 7:37,243,917...37,304,137

G

acyloxyacyl hydrolase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:37,138,486...37,362,655
Ensembl chr 7:37,363,741...37,589,358

G

adaptor related protein complex 1 subunit sigma 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,294,826...93,301,202
Ensembl chr 7:106,536,452...106,543,316

G

adaptor related protein complex 4 subunit mu 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,137,085...92,142,756
Ensembl chr 7:105,570,205...105,575,971

G

aquaporin 1 (Colton blood group)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:31,524,933...31,538,602
Ensembl chr 7:31,644,331...31,658,141

G

ADP ribosylation factor 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:119,583,955...119,587,272
Ensembl chr 7:132,239,114...132,242,323

G

ADP ribosylation factor like GTPase 4A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

G

armadillo repeat containing 10

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:95,049,105...95,073,466
Ensembl chr 7:107,899,776...107,922,685

G

actin related protein 2/3 complex subunit 1A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,299,559...91,339,729
Ensembl chr 7:104,801,399...104,841,590

G

actin related protein 2/3 complex subunit 1B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,348,120...91,368,299
Ensembl chr 7:104,861,582...104,870,369

G

ankyrin repeat and SOCS box containing 15

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:115,595,751...115,631,803
Ensembl chr 7:128,285,366...128,314,610

G

ankyrin repeat and SOCS box containing 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:87,443,445...87,497,640
Ensembl chr 7:101,030,584...101,085,009

G

argininosuccinate lyase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:59,908,648...59,948,822
Ensembl chr 7:73,142,842...73,157,472
Ensembl chr 7:73,142,842...73,157,472
Ensembl chr 7:73,142,842...73,157,472

G

asparagine synthetase (glutamine-hydrolyzing)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:89,811,363...89,831,733
Ensembl chr 7:103,392,540...103,413,046

G

ankyrin repeat, SAM and basic leucine zipper domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:109,330,983...109,397,864
Ensembl chr 7:122,025,611...122,091,923

G

ATP synthase membrane subunit f

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,431,277...91,439,423
Ensembl chr 7:104,933,594...104,941,921

G

ATPase H+ transporting V0 subunit a4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:130,665,997...130,758,537
Ensembl chr 7:143,154,712...143,218,802

G

ATPase H+ transporting V1 subunit F

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,814,560...120,817,612
Ensembl chr 7:133,339,284...133,342,423

G

ataxin 7 like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:97,594,803...97,861,463
Ensembl chr 7:110,327,942...110,590,021

G

activator of transcription and developmental regulator AUTS2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:64,822,964...66,015,831
Ensembl chr 7:77,495,909...78,686,763

G

AVL9 cell migration associated

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:33,104,760...33,194,941

G

BAR/IMD domain containing adaptor protein 2 like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:6,158,306...6,230,903
Ensembl chr 7:103,758,479...103,828,874

G

bromodomain adjacent to zinc finger domain 1B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:80,594,626...80,675,709

G

Bardet-Biedl syndrome 9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:33,723,923...34,210,408
Ensembl chr 7:34,141,841...34,603,231

G

B cell receptor associated protein 29

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:99,559,131...99,602,058
Ensembl chr 7:112,283,078...112,322,422

G

BAF chromatin remodeling complex subunit BCL7B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

G

Bet1 golgi vesicular membrane trafficking protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:85,947,997...85,959,151
Ensembl chr 7:99,539,001...99,550,125

G

basic helix-loop-helix family member a15

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:6,306,929...6,311,026
Ensembl chr 7:103,677,022...103,677,593

G

biliverdin reductase A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:40,444,095...40,492,972
Ensembl chr 7:40,489,360...40,526,132

G

BMP binding endothelial regulator

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:34,508,583...34,759,860
Ensembl chr 7:34,903,178...35,152,110

G

base methyltransferase of 25S rRNA 2 homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:104,786,390...104,905,357
Ensembl chr 7:117,488,026...117,607,033

G

bisphosphoglycerate mutase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:126,605,151...126,637,934
Ensembl chr 7:139,123,318...139,144,487

G

B-Raf proto-oncogene, serine/threonine kinase

onset

DNA:mutation:cds:p.V600E(human)
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

PMID:25346165 PMID:28299358

NCBI chr 7:132,651,908...132,855,422
Ensembl chr 7:145,138,510...145,327,115

G

brain protein I3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:6,231,026...6,240,581

G

BUD23 rRNA methyltransferase and ribosome maturation factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:80,836,518...80,851,497

G

BUD31 homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,382,353...91,393,112
Ensembl chr 7:104,884,088...104,894,865

G

basic leucine zipper and W2 domains 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:17,302,322...17,362,737
Ensembl chr 7:16,628,679...16,688,982

G

chromosome 6 C7orf25 homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:41,324,323...41,328,636
Ensembl chr 7:41,368,665...41,371,626

G

chromosome 6 C7orf57 homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:48,677,343...48,702,592
Ensembl chr 7:48,791,961...48,810,744

G

calcium voltage-gated channel auxiliary subunit alpha2delta 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:73,917,439...74,410,627
Ensembl chr 7:87,579,004...88,068,482

G

calcium dependent secretion activator 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:114,328,933...114,896,388
Ensembl chr 7:127,014,772...127,579,249

G

calcitonin receptor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:85,382,167...85,532,562
Ensembl chr 7:98,975,906...99,047,162

G

caldesmon 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:126,743,466...126,935,412
Ensembl chr 7:139,337,692...139,440,643

G

calneuron 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:79,667,347...80,280,077

G

calumenin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,691,092...120,723,303
Ensembl chr 7:133,223,269...133,247,167

G

calcium/calmodulin dependent protein kinase II beta

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:44,930,859...45,040,078
Ensembl chr 7:45,001,267...45,110,342

G

capping actin protein of muscle Z-line subunit alpha 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:108,835,083...108,889,112
Ensembl chr 7:121,551,401...121,584,566

G

CAS1 domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:86,459,449...86,520,559
Ensembl chr 7:100,053,248...100,096,887

G

cytosolic arginine sensor for mTORC1 subunit 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:82,068,521...82,075,387

G

caveolin 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655

G

caveolin 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:108,254,074...108,480,716
Ensembl chr 7:121,168,579...121,177,415

G

Cbl proto-oncogene like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:99,725,818...99,743,915
Ensembl chr 7:112,448,102...112,467,062

G

chromobox 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:26,847,247...26,859,339
Ensembl chr 7:26,450,411...26,462,350

G

coiled-coil domain containing 126

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:24,278,808...24,323,605
Ensembl chr 7:23,884,546...23,927,778

G

coiled-coil domain containing 136

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,743,177...120,774,401
Ensembl chr 7:133,267,217...133,298,936

G

coiled-coil domain containing 146

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:68,965,404...69,215,833
Ensembl chr 7:82,900,402...83,027,578

G

coiled-coil domain containing 71 like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:98,630,275...98,634,657

G

C-C motif chemokine ligand 24

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:68,206,688...68,210,343
Ensembl chr 7:82,263,310...82,265,480

G

C-C motif chemokine ligand 26

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:68,230,804...68,251,369
Ensembl chr 7:82,221,846...82,242,874

G

CCM2 scaffold protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:45,714,413...45,791,016
Ensembl chr 7:45,808,145...45,858,828

G

chaperonin containing TCP1 subunit 6A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:56,664,757...56,677,000
Ensembl chr 7:57,087,072...57,098,613

G

CD36 molecule (CD36 blood group)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:72,566,478...72,643,517
Ensembl chr 7:86,265,114...86,305,865

G

cell division cycle associated 7 like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:22,501,225...22,632,357
Ensembl chr 7:21,897,798...21,944,329

G

cadherin related family member 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:97,939,965...98,021,172
Ensembl chr 7:110,687,853...110,745,227

G

cyclin dependent kinase 13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:44,138,345...44,285,606
Ensembl chr 7:44,177,204...44,324,683

G

cyclin dependent kinase 14

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:82,609,791...83,216,851
Ensembl chr 7:96,211,305...96,731,767

G

cyclin dependent kinase 6

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:84,603,419...84,835,082

G

centrosomal protein 41

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:122,360,248...122,406,260
Ensembl chr 7:134,880,086...134,924,657

G

cilia and flagella associated protein 69

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:82,254,266...82,353,873
Ensembl chr 7:95,856,393...95,922,012

G

CF transmembrane conductance regulator

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:109,449,847...109,633,023
Ensembl chr 7:122,129,798...122,327,864

G

coiled-coil-helix-coiled-coil-helix domain containing 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:56,714,583...56,719,640
Ensembl chr 7:57,134,303...57,141,765

G

coiled-coil-helix-coiled-coil-helix domain containing 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:124,758,547...125,056,898

G

cholinergic receptor muscarinic 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:128,827,089...128,978,496
Ensembl chr 7:141,466,396...141,467,796

G

claudin 12

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:82,417,687...82,430,167

G

claudin 15

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,373,450...93,380,912
Ensembl chr 7:106,613,604...106,620,479

G

claudin 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:80,924,731...80,925,393

G

claudin 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:80,983,832...80,984,461

G

C-type lectin domain family 2 member L

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:131,468,864...131,490,171
Ensembl chr 7:143,953,455...143,973,570

G

CAP-Gly domain containing linker protein 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:81,465,901...81,550,422

G

CCR4-NOT transcription complex subunit 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:127,327,092...127,475,213
Ensembl chr 7:139,828,828...139,905,285

G

canopy FGF signaling regulator 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,154,844...92,162,151
Ensembl chr 7:105,588,007...105,593,864

G

cordon-bleu WH2 repeat protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:51,652,318...51,952,256
Ensembl chr 7:51,895,807...52,097,841

G

component of oligomeric golgi complex 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:99,180,197...99,543,437
Ensembl chr 7:111,934,557...112,266,513

G

collagen type I alpha 2 chain

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803

G

collagen type XXVI alpha 1 chain

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,500,218...93,696,147
Ensembl chr 7:106,793,555...106,931,470

G

COPI coat complex subunit gamma 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:122,470,494...122,633,223
Ensembl chr 7:134,988,505...135,149,512

G

COP9 signalosome subunit 6

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,124,166...92,127,165
Ensembl chr 7:105,557,778...105,560,998

G

carboxypeptidase A1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:122,335,250...122,353,369
Ensembl chr 7:134,861,920...134,871,834

G

carboxypeptidase A2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:122,203,510...122,256,180
Ensembl chr 7:134,750,878...134,773,437

G

carboxypeptidase A4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:122,266,946...122,289,742
Ensembl chr 7:134,776,768...134,807,678

G

carboxypeptidase A5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:122,310,070...122,333,946
Ensembl chr 7:134,828,605...134,852,487

G

cadherin like and PC-esterase domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:112,997,867...113,240,213
Ensembl chr 7:125,685,423...125,996,060

G

cleavage and polyadenylation specific factor 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,412,008...91,430,452
Ensembl chr 7:104,914,077...104,932,769

G

carboxypeptidase vitellogenic like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:29,637,320...29,824,278
Ensembl chr 7:29,228,331...29,385,882

G

CGRP receptor component

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

G

cAMP responsive element binding protein 3 like 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:129,833,446...129,960,145
Ensembl chr 7:142,331,759...142,452,438

G

cAMP responsive element binding protein 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:29,054,505...29,470,528
Ensembl chr 7:28,727,385...29,057,973

G

corticotropin releasing hormone receptor 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:31,265,619...31,313,902
Ensembl chr 7:31,386,026...31,434,220

G

carnitine O-octanoyltransferase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:79,339,498...79,393,676
Ensembl chr 7:92,989,868...93,043,832

G

CDP-L-ribitol pyrophosphorylase A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220

G

cortactin binding protein 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:109,675,275...109,837,178
Ensembl chr 7:122,370,616...122,520,397

G

cut like homeobox 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,954,599...94,432,697
Ensembl chr 7:107,191,124...107,609,940

G

cytochrome P450 family 3 subfamily A member 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,797,037...91,824,696
Ensembl chr 7:105,230,666...105,258,401

G

cytochrome P450 family 3 subfamily A member 43

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,862,437...91,903,033
Ensembl chr 7:105,296,111...105,335,958

G

cytochrome P450 family 3 subfamily A member 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,621,561...91,654,164
Ensembl chr 7:105,123,437...105,155,322

G

cytochrome P450 family 51 subfamily A member 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:84,110,130...84,132,870
Ensembl chr 7:97,708,806...97,729,824

G

cell cycle regulator of NHEJ

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:127,130,587...127,148,824

G

DBF4-CDC7 kinase regulatory subunit

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:79,872,955...79,904,778
Ensembl chr 7:93,521,856...93,552,920

G

drebrin like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:44,753,062...44,775,717
Ensembl chr 7:44,824,608...44,845,891

G

dopa decarboxylase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:51,101,169...51,206,031
Ensembl chr 7:51,345,228...51,449,710

G

DEAD-box helicase 56

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:45,280,188...45,289,476
Ensembl chr 7:45,349,800...45,357,694

G

DENN domain containing 2A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:132,452,770...132,573,674
Ensembl chr 7:144,926,749...145,012,748

G

diacylglycerol kinase beta

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:14,803,023...15,638,280
Ensembl chr 7:14,165,933...14,969,825

G

diacylglycerol kinase iota

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:129,339,330...129,812,443
Ensembl chr 7:141,841,852...142,142,310

G

dihydrolipoamide dehydrogenase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:99,872,020...99,901,884
Ensembl chr 7:112,593,934...112,623,629

G

distal-less homeobox 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:88,972,066...88,977,588
Ensembl chr 7:102,555,267...102,561,186

G

distal-less homeobox 6

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:88,957,570...88,962,703

G

cyclin D binding myb like transcription factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:79,135,090...79,178,980
Ensembl chr 7:92,792,934...92,836,607

G

dynein axonemal heavy chain 11

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:22,228,345...22,585,681
Ensembl chr 7:21,540,932...21,897,485

G

DnaJ heat shock protein family (Hsp40) member B9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:100,555,527...100,560,052
Ensembl chr 7:113,274,015...113,279,105

G

DnaJ heat shock protein family (Hsp40) member C2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:95,303,823...95,336,085
Ensembl chr 7:108,048,307...108,080,127

G

DnaJ heat shock protein family (Hsp40) member C30

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:80,835,722...80,836,402

G

dedicator of cytokinesis 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:103,697,418...104,169,469
Ensembl chr 7:116,400,535...116,871,755

G

dpy-19 like C-mannosyltransferase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:35,544,932...35,653,628
Ensembl chr 7:35,937,045...36,024,129

G

deltex E3 ubiquitin ligase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:67,509,102...67,537,030

G

dihydrouridine synthase 4 like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:99,542,894...99,557,478
Ensembl chr 7:112,266,481...112,280,968

G

dynein cytoplasmic 1 intermediate chain 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:87,724,604...88,050,624
Ensembl chr 7:101,344,053...101,648,607

G

endonuclease/exonuclease/phosphatase family domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:36,780,705...36,923,248
Ensembl chr 7:37,012,129...37,153,307

G

epidermal growth factor receptor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

eukaryotic translation initiation factor 4H

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:81,336,947...81,348,585

G

endosome-lysosome associated apoptosis and autophagy regulator family member 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:78,805,691...79,037,315
Ensembl chr 7:92,516,062...92,602,812

G

engulfment and cell motility 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:37,493,854...38,085,555

G

elastin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

G

ependymin related 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:38,556,734...38,588,059

G

EPH receptor B4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022

G

erythropoietin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,747,671...92,750,886
Ensembl chr 7:106,148,062...106,150,974

G

endogenous retrovirus group 3 member 1, envelope

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

G

endogenous retrovirus group W member 1, envelope

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:84,466,326...84,475,866

G

ETS variant transcription factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:14,569,239...14,665,713
Ensembl chr 7:13,909,487...14,004,808

G

even-skipped homeobox 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:27,887,145...27,892,267
Ensembl chr 7:27,486,329...27,491,245

G

exocyst complex component 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:125,226,107...126,030,486
Ensembl chr 7:137,734,400...138,536,214

G

family with sequence similarity 133 member B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:84,559,264...84,589,085
Ensembl chr 7:98,156,201...98,184,114

G

family with sequence similarity 180 member A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:127,701,469...127,721,048
Ensembl chr 7:140,202,736...140,217,950

G

family with sequence similarity 185 member A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:94,718,345...94,779,044

G

family with sequence similarity 200 member A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,514,018...91,532,868
Ensembl chr 7:105,021,687...105,023,408

G

family with sequence similarity 221 member A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:24,358,166...24,380,674
Ensembl chr 7:23,962,255...23,984,593

G

FAM3 metabolism regulating signaling molecule C

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:113,361,718...113,409,292
Ensembl chr 7:126,048,752...126,096,440

G

F-box and leucine rich repeat protein 13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:94,783,166...95,049,017
Ensembl chr 7:107,635,624...107,898,958

G

F-box protein 24

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,613,416...92,628,289
Ensembl chr 7:106,015,253...106,029,599

G

Fer3 like bHLH transcription factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:19,792,423...19,794,919
Ensembl chr 7:19,116,192...19,116,689

G

FEZ family zinc finger 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:114,311,563...114,322,490
Ensembl chr 7:126,995,708...127,005,732

G

fibrinogen like 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:69,114,082...69,120,575
Ensembl chr 7:82,926,266...82,932,550

G

fidgetin like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:51,080,052...51,093,694

G

fission, mitochondrial 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,381,058...93,386,483
Ensembl chr 7:106,621,211...106,626,683

G

FKBP prolyl isomerase 14

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:30,641,413...30,656,507
Ensembl chr 7:30,758,165...30,772,640

G

FKBP prolyl isomerase family member 6 (inactive)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:80,481,443...80,511,813

G

FKBP prolyl isomerase 9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:33,553,683...33,601,535
Ensembl chr 7:33,955,369...34,002,615

G

filamin C

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,782,584...120,811,504
Ensembl chr 7:133,307,041...133,335,896

G

formation of mitochondrial complex V assembly factor 1 homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:131,289,119...131,295,330

G

forkhead box P2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:106,040,118...106,648,741
Ensembl chr 7:119,077,332...119,343,893

G

fascin actin-bundling protein 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:119,589,219...119,597,360
Ensembl chr 7:132,244,268...132,250,913

G

frizzled class receptor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:83,269,906...83,277,608

G

frizzled class receptor 9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:80,588,167...80,590,337

G

galactose-3-O-sulfotransferase 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,194,003...92,203,853
Ensembl chr 7:105,626,713...105,636,202

G

polypeptide N-acetylgalactosaminyltransferase 17

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:66,355,754...66,937,769
Ensembl chr 7:79,027,531...79,587,744

G

golgi associated RAB2 interactor 1A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,623,601...120,640,187
Ensembl chr 7:133,148,605...133,159,626

G

golgi associated RAB2 interactor 1B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,649,308...120,684,035

G

glycyl-tRNA synthetase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:31,208,351...31,247,841
Ensembl chr 7:31,329,456...31,368,582

G

GATA zinc finger domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:84,445,039...84,456,781

G

GRIP and coiled-coil domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:119,575,802...119,581,401
Ensembl chr 7:132,231,077...132,236,053

G

glucokinase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:44,857,604...44,903,683
Ensembl chr 7:44,926,848...44,937,751

G

gamma-glutamylcyclotransferase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:31,125,964...31,134,330
Ensembl chr 7:31,247,760...31,255,903

G

growth hormone releasing hormone receptor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:31,582,134...31,592,914
Ensembl chr 7:31,696,914...31,712,200

G

GRB10 interacting GYF protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,706,546...92,721,574
Ensembl chr 7:106,105,660...106,117,844

G

gap junction protein gamma 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,956,757...91,963,417
Ensembl chr 7:105,390,567...105,396,643

G

GLI family zinc finger 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865

G

G protein subunit alpha i1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:72,102,937...72,188,124
Ensembl chr 7:85,812,249...85,851,283

G

G protein subunit alpha transducin 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:72,422,660...72,476,887
Ensembl chr 7:86,085,465...86,139,227

G

G protein subunit beta 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,700,807...92,706,211
Ensembl chr 7:106,104,339...106,107,270

G

G protein subunit gamma 11

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:85,870,321...85,875,309
Ensembl chr 7:99,461,797...99,466,632

G

G protein subunit gamma transducin 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:85,839,639...85,859,844
Ensembl chr 7:99,446,623...99,451,185

G

glypican 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,204,355...92,213,750
Ensembl chr 7:105,637,682...105,644,888

G

glycoprotein nmb

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:23,931,220...23,959,687
Ensembl chr 7:23,539,928...23,568,624

G

G protein-coupled receptor 22

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:99,448,716...99,457,221
Ensembl chr 7:112,176,800...112,178,101

G

G protein-coupled receptor 37

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:116,727,912...116,751,647
Ensembl chr 7:129,410,458...129,430,292

G

G protein-coupled receptor 85

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:105,044,520...105,053,488

G

growth factor receptor bound protein 10

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:51,230,945...51,434,560
Ensembl chr 7:51,474,166...51,666,638

G

glutamate metabotropic receptor 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:78,621,634...78,842,532
Ensembl chr 7:92,400,728...92,500,553

G

glutamate metabotropic receptor 8

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:118,430,086...119,249,147

G

gamma-secretase activating protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:69,231,374...69,340,215
Ensembl chr 7:83,043,730...83,146,026

G

gasdermin E

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:25,373,485...25,433,001
Ensembl chr 7:24,977,838...25,039,525

G

general transcription factor IIi

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:81,831,442...81,901,926

G

GTF2I repeat domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:81,653,515...81,748,951

G

GTF2I repeat domain containing 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

G

glucuronidase beta

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:60,087,130...60,109,289
Ensembl chr 7:64,724,841...64,744,909

G

HMG-box transcription factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:99,147,813...99,181,335
Ensembl chr 7:111,873,874...111,906,437

G

histone deacetylase 9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:18,740,580...19,653,615
Ensembl chr 7:18,138,761...18,970,717

G

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:40,678,651...41,124,073
Ensembl chr 7:40,726,603...41,038,005

G

HEPACAM family member 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:85,145,026...85,183,278

G

HERPUD family member 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:36,259,315...36,321,705
Ensembl chr 7:36,494,153...36,556,481

G

hepatocyte growth factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811

G

3-hydroxyisobutyrate dehydrogenase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:28,166,127...28,299,845
Ensembl chr 7:27,763,021...27,896,598

G

hypoxia inducible lipid droplet associated

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,446,572...120,449,174
Ensembl chr 7:133,100,523...133,100,714

G

huntingtin interacting protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:68,281,899...68,464,233

G

heterogeneous nuclear ribonucleoprotein A2/B1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:26,835,881...26,846,578
Ensembl chr 7:26,439,443...26,449,985

G

homeobox A1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:27,737,432...27,740,442
Ensembl chr 7:27,335,710...27,339,747

G

homeobox A10

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:27,815,112...27,818,829
Ensembl chr 7:27,415,833...27,423,580

G

homeobox A11

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:27,826,003...27,829,757
Ensembl chr 7:27,424,759...27,429,103

G

homeobox A13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:27,838,656...27,844,562

G

homeobox A2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:27,745,138...27,747,129
Ensembl chr 7:27,344,469...27,346,789

G

homeobox A3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:27,750,642...27,767,125
Ensembl chr 7:27,350,491...27,371,169

G

homeobox A4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:27,773,001...27,775,284

G

homeobox A5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:27,786,040...27,789,339
Ensembl chr 7:27,385,175...27,388,990

G

homeobox A6

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:27,790,031...27,792,348
Ensembl chr 7:27,389,679...27,391,997

G

homeobox A7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:27,799,317...27,802,492
Ensembl chr 7:27,396,898...27,402,142

G

homeobox A9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:27,806,942...27,810,304
Ensembl chr 7:27,405,931...27,409,984

G

heat shock protein family B (small) member 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:67,716,021...67,717,762
Ensembl chr 7:82,751,523...82,752,984

G

HUS1 checkpoint clamp component

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:48,606,848...48,622,194
Ensembl chr 7:48,714,668...48,731,005

G

hyccin PI4KA lipid kinase complex subunit 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:23,639,552...23,710,910
Ensembl chr 7:23,251,468...23,298,201

G

interferon related developmental regulator 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:104,412,763...104,438,490
Ensembl chr 7:117,115,187...117,141,887

G

intraflagellar transport 22

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,452,017...93,462,508
Ensembl chr 7:106,693,729...106,701,668

G

intraflagellar transport 56

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:131,092,241...131,150,109
Ensembl chr 7:143,579,500...143,636,362

G

insulin like growth factor 2 mRNA binding protein 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:23,994,839...24,148,709
Ensembl chr 7:23,602,905...23,755,473

G

insulin like growth factor binding protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:46,538,566...46,545,536
Ensembl chr 7:46,658,097...46,662,584

G

insulin like growth factor binding protein 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:46,564,234...46,573,145

G

IKAROS family zinc finger 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:50,946,817...51,047,168
Ensembl chr 7:51,191,685...51,291,245

G

interleukin 6

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:23,415,922...23,420,767

G

inner mitochondrial membrane peptidase subunit 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:102,647,212...103,536,293

G

inosine monophosphate dehydrogenase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,382,719...120,400,417
Ensembl chr 7:133,036,328...133,053,580

G

inhibitor of growth family member 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:112,955,848...112,984,473
Ensembl chr 7:125,643,332...125,671,566

G

inhibin subunit beta A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:42,538,591...42,556,578
Ensembl chr 7:42,580,730...42,595,097

G

indolethylamine N-methyltransferase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:31,359,126...31,369,757
Ensembl chr 7:31,485,671...31,489,661

G

IQ motif and ubiquitin domain containing

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:115,458,031...115,541,711
Ensembl chr 7:128,142,106...128,223,780

G

interferon regulatory factor 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,889,752...120,902,096
Ensembl chr 7:133,415,170...133,426,356

G

integrin subunit beta 8

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:21,019,917...21,105,143
Ensembl chr 7:20,336,031...20,415,666

G

ITPR interacting domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:32,138,256...32,265,204
Ensembl chr 7:32,256,671...32,383,052

G

JAZF zinc finger 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:28,477,005...28,826,561
Ensembl chr 7:28,072,363...28,233,192

G

kelch repeat and BTB domain containing 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:33,463,369...33,490,367
Ensembl chr 7:33,863,972...33,892,200

G

potassium voltage-gated channel subfamily D member 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:112,277,018...112,751,896
Ensembl chr 7:124,966,816...125,437,430

G

kielin cysteine rich BMP regulator

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,822,442...120,861,638
Ensembl chr 7:133,353,558...133,387,170

G

potassium channel tetramerization domain containing 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:59,392,366...59,435,993
Ensembl chr 7:73,687,952...73,697,728

G

lysine demethylase 7A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:132,022,983...132,118,881
Ensembl chr 7:144,510,213...144,561,230

G

KIAA1549 ortholog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:130,790,115...130,940,250
Ensembl chr 7:143,283,947...143,427,404

G

KLF transcription factor 14

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:122,695,015...122,696,635

G

kelch domain containing 10

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:122,036,564...122,101,840
Ensembl chr 7:134,555,062...134,620,225

G

kelch like family member 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:23,788,760...23,858,965
Ensembl chr 7:23,399,135...23,467,919

G

killer cell lectin like receptor G2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:131,399,485...131,431,598
Ensembl chr 7:143,884,701...143,915,138

G

lysine methyltransferase 2E (inactive)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:97,001,250...97,099,956
Ensembl chr 7:109,734,808...109,832,851

G

karyopherin subunit alpha 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,141,586...91,177,628
Ensembl chr 7:104,645,887...104,680,568

G

KRIT1 ankyrin repeat containing

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:84,197,200...84,244,050
Ensembl chr 7:97,794,531...97,840,895

G

laminin subunit beta 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:99,905,761...99,985,233
Ensembl chr 7:112,627,488...112,706,554

G

laminin subunit beta 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:100,005,662...100,112,128
Ensembl chr 7:112,727,343...112,825,707

G

late endosomal/lysosomal adaptor, MAPK and MTOR activator 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,183,617...92,188,967
Ensembl chr 7:105,616,074...105,621,685

G

LanC like glutathione S-transferase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:55,958,850...56,025,166
Ensembl chr 7:56,268,426...56,335,549

G

linker for activation of T cells family member 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:81,350,666...81,377,115

G

leptin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519

G

LHFPL tetraspan subfamily member 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:96,316,385...96,896,361

G

LIM domain kinase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:81,231,876...81,271,282

G

long intergenic non-protein coding RNA 2902

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:48,263,668...48,304,319

G

leiomodin 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:115,649,102...115,657,174
Ensembl chr 7:128,331,803...128,340,263

G

lemur tyrosine kinase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:6,312,634...6,415,332
Ensembl chr 7:103,572,011...103,672,453

G

aldo-keto reductase family 1 member B15

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:126,505,251...126,538,195
Ensembl chr 7:139,029,410...139,044,354

G

zinc finger protein 92

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:60,994,255...61,021,774
Ensembl chr 7:65,065,628...65,091,104

G

probable G-protein coupled receptor 141

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:38,166,383...38,383,346
Ensembl chr 7:38,601,459...38,602,376

G

T-cell receptor gamma alternate reading frame protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:38,869,933...38,892,677

G

mucin-17

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,178,939...93,198,279

G

ras GTPase-activating protein 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:94,623,292...94,671,082

G

zinc finger protein 107

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:61,487,006...61,530,864

G

histone H2A.V

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:45,543,839...45,561,970
Ensembl chr 7:45,612,565...45,630,680

G

cytochrome c oxidase assembly factor 1 homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:40,521,542...40,642,646
Ensembl chr 7:40,645,777...40,657,169

G

zinc-alpha-2-glycoprotein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,999,717...92,009,066
Ensembl chr 7:105,432,782...105,442,219

G

nuclear envelope pore membrane protein POM 121C

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:80,428,068...80,455,352

G

cytochrome c

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:25,784,900...25,791,598
Ensembl chr 7:25,396,013...25,398,549

G

NADPH--cytochrome P450 reductase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:68,035,021...68,105,934
Ensembl chr 7:82,364,418...82,437,530

G

SBDS ribosome maturation factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:59,090,343...59,098,332

G

putative phosphoserine phosphatase-like protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:56,351,434...56,376,714

G

rab5 GDP/GTP exchange factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:59,268,053...59,344,555
Ensembl chr 7:73,775,002...73,850,446

G

amphiphysin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:39,015,699...39,262,120
Ensembl chr 7:39,250,081...39,495,844

G

paired immunoglobulin-like type 2 receptor beta

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,364,862...92,429,017
Ensembl chr 7:105,805,106...105,831,142
Ensembl chr 7:105,805,106...105,831,142

G

tripartite motif-containing protein 73

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

G

zinc finger protein 479

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:57,796,037...57,809,610

G

speedy protein E12

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,342,287...92,348,832

G

uroplakin-3b-like protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:94,674,526...94,699,000

G

olfactory receptor 2AE1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:105,344,839...105,345,810

G

leucine rich repeats and calponin homology domain containing 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,601,158...92,613,274
Ensembl chr 7:106,004,101...106,015,061

G

leucine rich repeats and guanylate kinase domain containing

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:126,087,557...126,225,253
Ensembl chr 7:138,595,150...138,731,507

G

leucine rich repeat containing 17

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:94,884,624...94,917,576
Ensembl chr 7:107,756,505...107,767,445

G

leucine rich repeat containing 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,018,613...120,022,973
Ensembl chr 7:132,671,114...132,676,378

G

leucine rich repeat containing 72

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:17,180,011...17,238,810
Ensembl chr 7:16,507,468...16,564,320

G

leucine rich repeats and death domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:84,142,698...84,176,943
Ensembl chr 7:97,738,096...97,774,111

G

leucine rich repeat neuronal 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:103,072,402...103,106,880
Ensembl chr 7:115,819,307...115,821,433

G

leucine rich repeats and WD repeat domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:94,605,364...94,613,348

G

LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:33,094,545...33,104,489

G

LSM8 homolog, U6 small nuclear RNA associated

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:110,150,584...110,160,864

G

leucine rich single-pass membrane protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:104,441,634...104,459,220
Ensembl chr 7:117,144,969...117,161,709

G

LUC7 like 2, pre-mRNA splicing factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:131,307,590...131,371,599
Ensembl chr 7:143,774,046...143,855,477

G

MET transcriptional regulator MACC1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:20,826,105...20,904,602
Ensembl chr 7:20,144,960...20,170,423

G

membrane associated guanylate kinase, WW and PDZ domain containing 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:69,943,704...71,395,176
Ensembl chr 7:83,758,512...84,760,872

G

mitochondrial assembly of ribosomal large subunit 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:23,983,904...23,994,196
Ensembl chr 7:23,591,478...23,602,262

G

microtubule associated tyrosine carboxypeptidase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:36,945,774...37,011,771
Ensembl chr 7:37,176,246...37,241,779

G

metallo-beta-lactamase domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,162,025...92,163,678
Ensembl chr 7:105,595,781...105,596,582

G

minichromosome maintenance complex component 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,128,037...92,136,976
Ensembl chr 7:105,561,591...105,570,720

G

MyoD family inhibitor domain containing

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:106,886,481...106,983,546
Ensembl chr 7:119,584,817...119,678,614

G

malate dehydrogenase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:67,953,759...67,973,270
Ensembl chr 7:82,497,800...82,516,526

G

mesenchyme homeobox 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:16,268,225...16,343,914
Ensembl chr 7:15,598,466...15,673,935

G

methylphosphate capping enzyme

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,457,967...92,463,102
Ensembl chr 7:105,861,205...105,864,739

G

mesoderm specific transcript

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:122,450,524...122,470,855
Ensembl chr 7:134,968,638...134,988,564

G

MET proto-oncogene, receptor tyrosine kinase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:108,646,278...108,772,238
Ensembl chr 7:121,365,438...121,468,159

G

methyltransferase like 27

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:80,987,370...80,992,344

G

methyltransferase 2B, tRNA N3-cytidine

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,467,773...120,493,024

G

MINDY lysine 48 deubiquitinase 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:31,384,527...31,505,551
Ensembl chr 7:31,504,351...31,625,097

G

muskelin 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:123,075,319...123,463,509
Ensembl chr 7:135,806,585...135,968,032

G

makorin ring finger protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:132,391,357...132,417,395
Ensembl chr 7:144,867,541...144,893,658

G

MLX interacting protein like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:80,745,765...80,776,153

G

monoacylglycerol O-acyltransferase 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,337,040...93,342,822
Ensembl chr 7:106,577,727...106,582,799

G

motile sperm domain containing 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,639,151...92,642,464
Ensembl chr 7:106,040,375...106,047,767

G

M-phase specific PLK1 interacting protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:44,100,768...44,102,786
Ensembl chr 7:44,139,855...44,141,991

G

mitochondrial ribosomal protein L32

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:41,299,092...41,304,647
Ensembl chr 7:41,342,706...41,348,266

G

mitochondrial ribosomal protein S17

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:56,564,787...56,569,715
Ensembl chr 7:56,988,778...56,993,467

G

mitochondrial ribosomal protein S24

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:40,381,723...40,384,745
Ensembl chr 7:40,427,349...40,430,335

G

mitochondrial transcription termination factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:83,873,039...83,882,815
Ensembl chr 7:97,473,701...97,478,476

G

myotrophin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:127,896,148...127,947,122
Ensembl chr 7:140,392,620...140,443,591

G

maturin, neural progenitor differentiation regulator homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:30,766,592...30,794,436

G

mucin 12, cell surface associated

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,105,024...93,139,407

G

mucin 3A, cell surface associated

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,974,006...92,993,990

G

myosin light chain 10

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,751,255...93,767,214
Ensembl chr 7:106,986,697...107,002,148

G

myosin light chain 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:44,853,215...44,855,728
Ensembl chr 7:44,920,572...44,923,070

G

myosin IG

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:45,676,225...45,693,013
Ensembl chr 7:45,740,036...45,759,819

G

NAC alpha domain containing

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:45,794,340...45,802,532

G

nicotinamide phosphoribosyltransferase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:98,227,071...98,262,254
Ensembl chr 7:110,952,876...110,981,967

G

N-acyl phosphatidylethanolamine phospholipase D

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:95,074,084...95,123,936
Ensembl chr 7:107,923,960...107,973,269

G

N-acetyltransferase 16 (putative)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,310,922...93,320,565
Ensembl chr 7:106,554,021...106,556,842

G

neutrophil cytosolic factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:81,917,167...81,932,589

G

NADH:ubiquinone oxidoreductase subunit A5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:115,547,062...115,563,948
Ensembl chr 7:128,230,035...128,246,800

G

NADH:ubiquinone oxidoreductase subunit B2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:132,629,353...132,654,824
Ensembl chr 7:145,101,602...145,128,866

G

neuronal differentiation 6

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:31,949,900...31,953,353

G

NFE2 like bZIP transcription factor 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:26,798,049...26,833,069
Ensembl chr 7:26,402,451...26,435,056

G

nipsnap homolog 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:56,577,763...56,613,417
Ensembl chr 7:57,002,001...57,036,333

G

NME/NM23 family member 8

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:38,128,610...38,536,611
Ensembl chr 7:38,708,937...38,757,795

G

nucleotide binding oligomerization domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:31,060,245...31,109,012
Ensembl chr 7:31,182,275...31,208,742

G

NPC1 like intracellular cholesterol transporter 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:45,227,289...45,256,094
Ensembl chr 7:45,297,271...45,324,692

G

neuropeptide S receptor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:35,274,102...35,494,389
Ensembl chr 7:35,663,335...35,883,988

G

neuronal pentraxin 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:90,581,250...90,593,880

G

neuropeptide VF precursor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:25,883,679...25,887,596
Ensembl chr 7:25,489,577...25,493,126

G

neuropeptide Y

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:24,963,056...24,970,803
Ensembl chr 7:24,568,041...24,574,657

G

neuronal cell adhesion molecule

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:100,129,389...100,442,910
Ensembl chr 7:112,849,811...112,942,413

G

nuclear respiratory factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:121,574,061...121,719,604
Ensembl chr 7:134,113,482...134,240,158

G

NOP2/Sun RNA methyltransferase 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:80,455,353...80,461,316

G

5'-nucleotidase, cytosolic IIIA

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:33,608,746...33,657,380
Ensembl chr 7:34,009,467...34,057,740

G

NudC domain containing 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:45,094,217...45,205,327
Ensembl chr 7:45,166,752...45,274,475

G

nucleoporin 205

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:127,525,777...127,620,680
Ensembl chr 7:140,037,092...140,118,983

G

nucleoporin 42

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:23,864,937...23,884,596
Ensembl chr 7:23,473,868...23,493,316

G

nuclear protein 2, transcriptional regulator

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:56,727,702...56,729,433

G

neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,512,796...92,523,743
Ensembl chr 7:105,914,389...105,925,434

G

oncomodulin 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:6,534,896...6,540,900

G

oxoglutarate dehydrogenase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:45,321,559...45,422,515
Ensembl chr 7:45,409,148...45,491,636

G

opsin 1, short wave sensitive

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,724,363...120,727,649
Ensembl chr 7:133,246,131...133,251,464

G

ORAI calcium release-activated calcium modulator 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:94,573,923...94,592,028

G

origin recognition complex subunit 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:96,118,272...96,197,216
Ensembl chr 7:108,861,281...108,939,389

G

oxysterol binding protein like 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:25,471,477...25,654,883
Ensembl chr 7:25,077,818...25,173,534

G

protein associated with LIN7 2, MAGUK p55 family member

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:25,248,710...25,368,829
Ensembl chr 7:24,899,798...24,967,402

G

poly(ADP-ribose) polymerase family member 12

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:131,962,104...132,001,945
Ensembl chr 7:144,442,973...144,480,006

G

paired box 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:119,605,924...119,613,579
Ensembl chr 7:132,260,859...132,268,516

G

piccolo presynaptic cytomatrix protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:74,714,364...75,126,518

G

procollagen C-endopeptidase enhancer

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,629,148...92,635,357
Ensembl chr 7:106,030,934...106,036,582

G

PDGFA associated protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,369,488...91,382,161
Ensembl chr 7:104,871,576...104,884,276

G

phosphodiesterase 1C

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:32,225,293...33,037,627
Ensembl chr 7:32,343,701...33,029,405

G

pyruvate dehydrogenase kinase 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:87,540,600...87,553,673
Ensembl chr 7:101,128,060...101,141,157

G

paternally expressed 10

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:86,606,249...86,619,580

G

peroxisomal biogenesis factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:84,484,965...84,526,309
Ensembl chr 7:98,081,021...98,122,335

G

phosphoglycerate mutase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:44,776,722...44,780,248
Ensembl chr 7:44,843,067...44,845,984

G

phosphorylase kinase catalytic subunit gamma 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:56,693,252...56,706,474
Ensembl chr 7:57,115,921...57,139,516

G

putative homeodomain transcription factor 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:69,724,248...69,885,162
Ensembl chr 7:83,579,418...83,695,756

G

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

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:98,841,974...98,885,446
Ensembl chr 7:111,570,148...111,611,614

G

polycystin 1 like 1, transient receptor potential channel interacting

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:48,451,329...48,596,991
Ensembl chr 7:48,545,432...48,701,736

G

pleckstrin homology domain containing A8

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:30,657,504...30,762,105
Ensembl chr 7:30,774,203...30,877,631

G

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,347,335...93,358,921
Ensembl chr 7:106,587,858...106,599,605

G

plexin A4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:124,097,028...124,621,504
Ensembl chr 7:136,643,657...136,992,405

G

peptidase, mitochondrial processing subunit beta

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:95,288,747...95,320,294
Ensembl chr 7:108,033,235...108,050,302

G

patatin like phospholipase domain containing 8

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:100,456,096...100,511,836
Ensembl chr 7:113,177,202...113,230,799

G

podocalyxin like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:123,467,140...123,523,503
Ensembl chr 7:135,984,592...135,992,815

G

DNA polymerase delta 2, accessory subunit

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:44,829,040...44,837,928
Ensembl chr 7:44,896,320...44,905,393

G

DNA polymerase mu

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:44,785,797...44,796,624
Ensembl chr 7:44,852,594...44,862,816

G

RNA polymerase I subunit F

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:20,369,819...20,383,414
Ensembl chr 7:19,692,639...19,703,338

G

POM121 transmembrane nucleoporin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

G

POM121 transmembrane nucleoporin like 12

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:53,672,854...53,674,134
Ensembl chr 7:53,985,049...53,985,939

G

POM121 and ZP3 fusion

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:67,404,702...67,422,739

G

paraoxonase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:87,253,476...87,279,650
Ensembl chr 7:100,841,286...100,867,493

G

paraoxonase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:87,362,447...87,392,795
Ensembl chr 7:100,950,074...100,980,433

G

paraoxonase 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:87,314,788...87,354,020
Ensembl chr 7:100,902,432...100,941,611

G

POP7 homolog, ribonuclease P/MRP subunit

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,722,839...92,734,708
Ensembl chr 7:106,134,766...106,135,188

G

protection of telomeres 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:116,807,913...116,926,998
Ensembl chr 7:129,487,571...129,605,558

G

POU class 6 homeobox 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:39,613,073...40,104,152
Ensembl chr 7:39,875,708...40,330,667

G

peptidylprolyl isomerase A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:45,510,450...45,515,448
Ensembl chr 7:45,578,765...45,605,545

G

protein phosphatase 1 regulatory subunit 17

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:32,296,330...32,317,606
Ensembl chr 7:32,413,485...32,434,886

G

protein phosphatase 1 regulatory subunit 35

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,464,264...92,465,513
Ensembl chr 7:105,866,547...105,867,830

G

protein phosphatase 1 regulatory subunit 3A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:105,831,567...105,873,793
Ensembl chr 7:118,529,362...118,571,770

G

protein phosphatase 1 regulatory subunit 9A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:86,863,919...87,251,634
Ensembl chr 7:100,455,357...100,833,220

G

protein kinase cAMP-dependent type II regulatory subunit beta

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:99,021,209...99,140,652
Ensembl chr 7:111,748,463...111,866,044

G

PRKR interacting protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:94,515,712...94,567,066
Ensembl chr13:24,723,062...24,734,122

G

phosphoribosyl pyrophosphate synthetase 1 like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:18,680,579...18,681,655

G

proline rich 15

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:30,206,558...30,210,422
Ensembl chr 7:29,802,905...29,803,294

G

proline rich transmembrane protein 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,341,463...120,353,705

G

proteasome 20S subunit alpha 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:41,304,746...41,319,844
Ensembl chr 7:41,348,364...41,363,986

G

proteasome 26S subunit, ATPase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:95,338,743...95,359,353
Ensembl chr 7:108,083,203...108,103,494

G

pentatricopeptide repeat domain 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,392,616...91,411,904
Ensembl chr 7:104,894,369...104,913,860

G

pleiotrophin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:129,184,786...129,300,815
Ensembl chr 7:141,701,430...141,705,623

G

protein tyrosine phosphatase non-receptor type 12

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:69,457,158...69,560,111
Ensembl chr 7:83,268,834...83,371,120

G

protein tyrosine phosphatase receptor type Z1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:113,882,557...114,073,283
Ensembl chr 7:126,569,630...126,758,155

G

purine rich element binding protein B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:45,590,183...45,600,089
Ensembl chr 7:45,667,233...45,668,159

G

pseudouridine synthase 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:97,447,332...97,512,812
Ensembl chr 7:110,177,284...110,243,923

G

PVR related immunoglobulin domain containing

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,254,639...92,256,592
Ensembl chr 7:105,687,005...105,689,674

G

RAB19, member RAS oncogene family

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:132,345,288...132,367,298
Ensembl chr 7:144,824,042...144,844,761

G

RAS like proto-oncogene A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:44,528,146...44,611,431
Ensembl chr 7:44,559,380...44,580,495

G

receptor activity modifying protein 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:45,871,687...45,898,159
Ensembl chr 7:45,937,607...45,966,041

G

Rap guanine nucleotide exchange factor 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:22,806,855...23,047,663
Ensembl chr 7:22,122,434...22,317,650

G

RNA binding motif protein 28

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,211,198...120,335,079
Ensembl chr 7:132,955,078...132,988,576

G

RNA binding motif protein 48

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:84,526,533...84,535,772
Ensembl chr 7:98,122,495...98,130,886

G

RCC1 like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:82,016,477...82,065,189

G

reelin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037

G

replication factor C subunit 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:81,378,937...81,401,937

G

rhomboid domain containing 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:68,132,256...68,142,198
Ensembl chr 7:82,328,777...82,338,401

G

RAD50 interactor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:97,522,208...97,567,897
Ensembl chr 7:110,252,776...110,287,702

G

ring finger protein 133

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:114,707,995...114,709,482

G

ring finger protein 148

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:114,711,928...114,713,223

G

round spermatid basic protein 1 like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:69,611,208...69,708,170
Ensembl chr 7:83,426,713...83,519,420

G

RUN domain containing 3B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:79,621,222...79,829,021
Ensembl chr 7:93,270,747...93,477,463

G

sterile alpha motif domain containing 9 like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:85,086,661...85,104,983

G

Sin3A associated protein 25

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,599,340...92,601,029
Ensembl chr 7:106,001,455...106,002,918

G

scinderin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:13,269,361...13,351,854
Ensembl chr 7:12,613,996...12,696,244

G

secernin 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:30,550,199...30,619,197
Ensembl chr 7:30,667,229...30,736,129

G

succinate dehydrogenase complex assembly factor 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:89,069,374...89,133,394
Ensembl chr 7:102,653,723...102,717,045

G

SEC61 translocon subunit gamma

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:55,346,034...55,353,779
Ensembl chr 7:55,657,507...55,664,567

G

SEM1, 26S proteasome complex subunit

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:88,647,366...88,668,476

G

semaphorin 3A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:75,929,699...76,484,246
Ensembl chr 7:89,590,359...90,004,122

G

semaphorin 3C

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:72,706,615...72,884,163
Ensembl chr 7:86,368,753...86,545,580

G

semaphorin 3D

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:76,964,151...77,155,472
Ensembl chr 7:90,624,398...90,750,389

G

semaphorin 3E

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:75,329,049...75,612,946
Ensembl chr 7:88,995,049...89,274,241

G

septin 14

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:56,395,962...56,467,826
Ensembl chr 7:56,830,212...56,890,798

G

septin-7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:36,427,252...36,531,668
Ensembl chr 7:36,662,430...36,766,632

G

serpin family E member 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450

G

secreted frizzled related protein 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:38,542,105...38,553,008
Ensembl chr 7:38,764,146...38,774,264

G

sarcoglycan epsilon

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:86,535,215...86,606,114

G

SH2B adaptor protein 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:94,425,297...94,447,644

G

src kinase associated phosphoprotein 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:27,309,599...27,505,842
Ensembl chr 7:26,911,734...27,106,285

G

solute carrier family 12 member 9

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,877,655...92,891,957
Ensembl chr 7:106,288,530...106,294,968
Ensembl chr 7:106,288,530...106,294,968

G

solute carrier family 13 member 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:115,123,178...115,208,215
Ensembl chr 7:127,808,034...127,893,070

G

solute carrier family 13 member 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:127,653,170...127,700,080
Ensembl chr 7:140,150,963...140,197,418

G

solute carrier family 25 member 13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:88,072,139...88,273,470
Ensembl chr 7:101,658,507...101,859,587

G

solute carrier family 25 member 40

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:79,830,280...79,873,088
Ensembl chr 7:93,478,733...93,521,459

G

solute carrier family 26 member 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:99,747,405...99,776,763
Ensembl chr 7:112,470,041...112,507,671

G

solute carrier family 26 member 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:99,640,703...99,698,109
Ensembl chr 7:112,364,126...112,415,637

G

solute carrier family 26 member 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:95,363,028...95,437,527
Ensembl chr 7:108,088,197...108,178,578

G

solute carrier family 35 member B4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:126,249,622...126,277,395
Ensembl chr 7:138,761,768...138,783,720

G

solute carrier family 37 member 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:132,236,350...132,338,150
Ensembl chr 7:144,755,561...144,815,491

G

small lysine rich protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:121,464,310...121,474,543

G

smoothened, frizzled class receptor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:121,143,968...121,168,873
Ensembl chr 7:133,668,304...133,693,048

G

SMAD specific E3 ubiquitin protein ligase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:90,995,923...91,112,240
Ensembl chr 7:104,500,965...104,568,046

G

staphylococcal nuclease and tudor domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:119,647,536...120,084,110
Ensembl chr 7:132,302,235...132,738,223

G

sorting nexin 10

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:26,935,357...27,017,461
Ensembl chr 7:26,537,189...26,620,720

G

sorting nexin 13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:18,444,092...18,593,950
Ensembl chr 7:17,749,772...17,920,085

G

sclerostin domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:17,193,531...17,229,769
Ensembl chr 7:16,443,703...16,448,076
Ensembl chr 7:16,443,703...16,448,076

G

Sp4 transcription factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:22,113,013...22,200,012
Ensembl chr 7:21,421,259...21,512,238

G

Sp8 transcription factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:21,456,649...21,463,844

G

sperm acrosome developmental regulator

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,485,588...92,493,539
Ensembl chr 7:105,887,295...105,894,117

G

sperm adhesion molecule 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:115,916,304...115,951,103
Ensembl chr 7:128,623,193...128,643,550

G

sperm microtubule inner protein 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:25,807,277...25,853,071
Ensembl chr 7:25,413,691...25,458,682

G

sperm microtubule inner protein 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:50,738,047...50,802,041
Ensembl chr 7:50,984,231...51,047,029

G

sorcin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:80,199,719...80,214,733
Ensembl chr 7:93,850,496...93,864,029

G

SRSF protein kinase 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:97,102,226...97,378,773
Ensembl chr 7:109,834,478...109,989,050

G

serine/arginine repetitive matrix 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:67,732,909...67,818,031

G

serrate, RNA effector molecule

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,900,023...92,913,690
Ensembl chr 7:106,296,488...106,310,257

G

scavenger receptor cysteine rich family member with 4 domains

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:67,610,728...67,631,061

G

serine rich single-pass membrane protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:122,174,764...122,183,708
Ensembl chr 7:134,692,392...134,700,857

G

suppression of tumorigenicity 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:108,922,652...109,197,805
Ensembl chr 7:121,680,200...121,896,175

G

STAG3 cohesin complex component

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,215,064...92,249,202
Ensembl chr 7:105,648,425...105,681,850

G

STARD3 N-terminal like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:38,811,588...38,864,042
Ensembl chr 7:39,032,337...39,084,789

G

STEAP family member 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:82,163,172...82,173,587
Ensembl chr 7:95,770,938...95,775,877

G

STEAP family member 1B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:23,109,784...23,190,599

G

STEAP2 metalloreductase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:82,220,814...82,246,718
Ensembl chr 7:95,823,012...95,849,354

G

STEAP4 metalloreductase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:80,263,528...80,299,470
Ensembl chr 7:93,918,327...93,948,754

G

serine/threonine kinase 17a

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:40,625,069...40,668,016

G

serine/threonine kinase 31

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:24,388,237...24,516,712
Ensembl chr 7:23,992,232...24,120,105

G

short transmembrane mitochondrial protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

G

stimulated by retinoic acid 8

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:127,205,332...127,223,825
Ensembl chr 7:139,700,812...139,726,154

G

striatin interacting protein 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:121,391,919...121,450,204
Ensembl chr 7:133,917,544...133,971,515

G

syntaxin 1A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:80,852,495...80,862,255

G

serine/threonine/tyrosine interacting like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:67,973,316...68,024,986
Ensembl chr 7:82,446,562...82,497,769

G

succinyl-CoA:glutarate-CoA transferase

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:43,381,156...44,100,614
Ensembl chr 7:43,421,615...44,139,738

G

sulfatase modifying factor 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:56,677,230...56,693,639

G

Sad1 and UNC84 domain containing 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:48,629,697...48,728,738
Ensembl chr 7:48,738,493...48,779,798

G

SVOP like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:130,555,572...130,661,267
Ensembl chr 7:143,045,251...143,127,415

G

synaptophysin like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:98,074,940...98,097,052
Ensembl chr 7:110,802,978...110,824,735

G

tachykinin precursor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:89,675,834...89,684,391
Ensembl chr 7:103,257,501...103,266,389

G

TATA-box binding protein associated factor 6

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,142,646...92,154,951
Ensembl chr 7:105,575,861...105,588,142

G

taste 2 receptor member 16

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:115,003,966...115,004,950
Ensembl chr 7:127,687,899...127,688,774

G

Tax1 binding protein 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:28,379,135...28,476,179
Ensembl chr 7:27,975,026...28,074,513

G

transducin beta like 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:80,721,616...80,730,685

G

transforming growth factor beta regulator 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:45,813,586...45,825,311
Ensembl chr 7:45,879,666...45,891,351

G

T-box transcription factor 20

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:35,855,969...35,878,533

G

thromboxane A synthase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:131,772,947...131,958,647
Ensembl chr 7:144,255,211...144,439,523

G

tectonin beta-propeller repeat containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:6,269,935...6,306,941
Ensembl chr 7:103,680,156...103,716,572

G

testin LIM domain protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:108,176,519...108,224,816
Ensembl chr 7:120,873,762...120,922,333

G

testis expressed 47

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:80,786,625...80,788,997
Ensembl chr 7:94,435,850...94,436,611

G

transcription factor EC

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:107,900,876...107,996,752

G

tissue factor pathway inhibitor 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:85,835,141...85,839,515
Ensembl chr 7:99,426,006...99,431,099

G

transferrin receptor 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,647,431...92,669,889
Ensembl chr 7:106,048,935...106,069,238

G

THAP domain containing 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:100,547,874...100,555,416
Ensembl chr 7:113,266,499...113,274,033

G

transmembrane p24 trafficking protein 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:45,289,666...45,297,030
Ensembl chr 7:45,361,693...45,366,395

G

transmembrane protein 106B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:12,905,192...12,931,170
Ensembl chr 7:12,250,010...12,270,693

G

transmembrane protein 120A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:68,026,666...68,034,896
Ensembl chr 7:82,437,650...82,444,882

G

transmembrane protein 130

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:90,813,524...90,837,227
Ensembl chr 7:104,319,203...104,343,087

G

transmembrane protein 140

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:127,112,867...127,130,717
Ensembl chr 7:139,633,174...139,633,731

G

transmembrane protein 168

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:104,729,362...104,756,299
Ensembl chr 7:117,433,384...117,458,000

G

transmembrane protein 196

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:20,393,673...20,447,857
Ensembl chr 7:19,712,988...19,767,598

G

transmembrane protein 209

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:122,131,462...122,172,325
Ensembl chr 7:134,648,846...134,689,897

G

transmembrane protein 213

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:130,758,215...130,765,607
Ensembl chr 7:143,245,974...143,284,073

G

transmembrane protein 229A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:116,021,378...116,023,524
Ensembl chr 7:128,704,539...128,705,678

G

transmembrane protein 243

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:79,178,806...79,210,021
Ensembl chr 7:92,836,440...92,860,583

G

transmembrane protein 248

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:59,127,475...59,165,406
Ensembl chr 7:73,963,370...73,990,770

G

transmembrane protein 270

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:81,011,217...81,016,100

G

transmembrane protein 60

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:69,719,209...69,723,899
Ensembl chr 7:83,533,732...83,534,133

G

transportin 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:120,906,238...121,008,216
Ensembl chr 7:133,430,490...133,531,774

G

tensin 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:47,915,668...48,223,267
Ensembl chr 7:48,025,720...48,221,437

G

translocase of outer mitochondrial membrane 7

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:23,501,438...23,511,321
Ensembl chr 7:23,112,630...23,122,195

G

tumor protein p53

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

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

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

tyrosylprotein sulfotransferase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:59,707,582...59,856,809
Ensembl chr 7:73,271,704...73,419,642

G

transformer 2 alpha homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:24,184,844...24,213,889
Ensembl chr 7:23,791,479...23,820,124

G

trafficking protein particle complex subunit 14

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,189,179...92,193,483
Ensembl chr 7:105,622,497...105,625,978

G

TLR4 interactor with leucine rich repeats

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:29,596,977...29,600,989
Ensembl chr 7:29,192,063...29,194,498

G

tripartite motif containing 24

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:130,420,334...130,547,489
Ensembl chr 7:142,909,009...143,036,526

G

tripartite motif containing 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,923,877...91,953,038
Ensembl chr 7:105,357,234...105,386,405

G

tripartite motif containing 50

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

G

tripartite motif containing 56

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,225,830...93,231,127
Ensembl chr 7:106,469,474...106,471,741

G

transformation/transcription domain associated protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:90,845,518...90,981,700
Ensembl chr 7:104,351,320...104,486,722

G

TSC complex subunit 1

mRNA:decreased expression:brain

NCBI chr 9:104,007,708...104,060,938
Ensembl chr 9:132,638,003...132,675,759

G

TSC22 domain family member 4

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,495,407...92,508,204
Ensembl chr 7:105,896,307...105,909,967

G

testis specific 13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:122,633,095...122,651,841
Ensembl chr 7:135,150,077...135,168,413

G

tetraspanin 12

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:112,790,606...112,861,730
Ensembl chr 7:125,478,472...125,549,091

G

tetraspanin 13

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:17,410,398...17,441,224
Ensembl chr 7:16,736,690...16,767,282

G

tetraspanin 33

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:121,097,244...121,125,582
Ensembl chr 7:133,620,452...133,648,787

G

twist family bHLH transcription factor 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:19,761,041...19,765,665

G

tRNA-yW synthesizing protein 1 homolog B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

G

ubiquitin conjugating enzyme E2 D4 (putative)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:40,295,047...40,324,705

G

ubiquitin conjugating enzyme E2 H

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:121,796,629...121,917,981
Ensembl chr 7:134,318,166...134,437,295

G

ubinuclein 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:131,179,164...131,256,244
Ensembl chr 7:143,664,596...143,730,647

G

UFM1 specific peptidase 1 (inactive)

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,913,749...92,914,766
Ensembl chr 7:106,310,436...106,310,864

G

uridine phosphorylase 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:48,729,975...48,749,598
Ensembl chr 7:48,838,893...48,858,185

G

upregulator of cell proliferation

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:40,324,724...40,375,428
Ensembl chr 7:40,405,063...40,421,002

G

VGF nerve growth factor inducible

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,302,956...93,307,892

G

vitamin K epoxide reductase complex subunit 1 like 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:60,111,428...60,196,412

G

VOPP1 WW domain binding protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:56,061,704...56,163,517
Ensembl chr 7:56,372,027...56,463,310

G

VPS37D subunit of ESCRT-I

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

Ensembl chr 7:80,798,226...80,824,883

G

VPS41 subunit of HOPS complex

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:39,355,578...39,543,281
Ensembl chr 7:39,590,587...39,776,937

G

VPS50 subunit of EARP/GARPII complex

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:85,188,960...85,315,452
Ensembl chr 7:98,786,809...98,908,113

G

V-set and transmembrane domain containing 2A

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:55,136,669...55,168,379
Ensembl chr 7:55,447,878...55,477,148

G

von Willebrand factor C domain containing 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:50,412,363...50,562,837
Ensembl chr 7:50,661,384...50,800,814

G

von Willebrand factor D and EGF domains

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:13,028,161...13,106,766

G

WASP like actin nucleation promoting factor

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:115,675,170...115,741,498
Ensembl chr 7:128,360,495...128,385,393

G

WD repeat domain 91

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:127,150,041...127,176,376
Ensembl chr 7:139,653,864...139,680,199

G

WAS/WASL interacting protein family member 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:30,436,514...30,547,147
Ensembl chr 7:30,582,399...30,661,986

G

Wnt family member 16

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:113,338,322...113,354,002
Ensembl chr 7:126,025,337...126,041,057

G

Wnt family member 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:109,244,772...109,291,472
Ensembl chr 7:121,936,031...121,985,862

G

YAE1 maturation factor of ABCE1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:44,623,036...44,668,803

G

YKT6 v-SNARE homolog

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:44,915,181...44,928,001
Ensembl chr 7:44,982,748...44,994,183

G

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:67,661,589...67,693,814

G

zonadhesin

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,763,696...92,819,419

G

zinc finger CCCH-type containing, antiviral 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:131,002,580...131,068,513
Ensembl chr 7:143,489,750...143,555,438

G

zinc finger CCCH-type containing, antiviral 1 like

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:130,985,125...130,995,225
Ensembl chr 7:143,472,771...143,482,267

G

zinc finger C3HC-type containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:121,983,549...122,018,106
Ensembl chr 7:134,502,334...134,536,401

G

zinc finger CW-type and PWWP domain containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,429,776...92,457,943
Ensembl chr 7:105,832,031...105,859,995

G

zinc finger with KRAB and SCAN domains 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,050,741...92,080,554
Ensembl chr 7:105,484,185...105,502,895

G

zinc finger with KRAB and SCAN domains 5

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,476,962...91,507,469
Ensembl chr 7:104,979,816...105,009,236

G

zinc finger MIZ-type containing 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:45,462,031...45,482,209
Ensembl chr 7:45,532,224...45,552,081

G

zinc finger protein 273

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:61,327,900...61,361,686

G

zinc finger protein 277

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:104,169,603...104,307,262
Ensembl chr 7:116,872,205...117,008,463

G

zinc finger protein 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,099,029...92,117,656
Ensembl chr 7:105,533,692...105,551,026

G

zinc finger protein 394

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,459,355...91,473,164
Ensembl chr 7:104,967,815...104,975,632

G

zinc finger protein 655

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,531,547...91,549,581
Ensembl chr 7:105,033,721...105,051,724

G

zinc finger protein 679

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:61,917,537...61,949,935
Ensembl chr 7:63,922,391...63,942,472

G

zinc finger protein 680

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:61,630,914...61,693,217

G

zinc finger protein 713

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:56,491,854...56,553,692
Ensembl chr 7:56,936,463...56,977,206

G

zinc finger protein 716

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

G

zinc finger protein 727

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:62,099,720...62,133,264

G

zinc finger protein 735

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:61,958,133...61,971,175
Ensembl chr 7:63,882,348...63,896,811

G

zinc finger protein 736

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:61,829,884...61,877,407
Ensembl chr 7:63,981,439...64,020,438

G

zinc finger protein 789

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,445,941...91,460,617
Ensembl chr 7:104,947,827...104,978,649

G

zinc finger protein 800

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:119,337,671...119,584,646
Ensembl chr 7:132,023,845...132,042,024

G

zinc finger protein 804B

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:80,752,010...81,333,608
Ensembl chr 7:94,860,215...94,981,135

G

zinc finger HIT-type containing 1

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:93,359,038...93,365,521
Ensembl chr 7:106,599,579...106,606,157

G

zinc and ring finger 2

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:30,922,235...31,006,950

G

zona pellucida glycoprotein 3

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:67,574,932...67,592,757
Ensembl chr 7:82,844,162...82,891,655

G

zona pellucida binding protein

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:50,576,485...50,735,411
Ensembl chr 7:50,826,058...50,981,644

G

zinc finger and SCAN domain containing 21

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:92,084,976...92,100,291
Ensembl chr 7:105,518,803...105,533,944

G

zinc finger and SCAN domain containing 25

ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma

NCBI chr 7:91,589,706...91,776,856
Ensembl chr 7:105,094,741...105,107,657

prolactinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein 4

protein:increased expression:pituitary gland
CTD Direct Evidence: marker/mechanism
mRNA, protein:increased expression:pituitary gland

PMID:12552124 PMID:16809920

NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752

G

CCAAT enhancer binding protein delta

CTD Direct Evidence: marker/mechanism

NCBI chr 8:44,167,256...44,168,545

G

15-hydroxyprostaglandin dehydrogenase

mRNA:decreased expression:pituitary gland

NCBI chr 4:166,716,386...166,749,225
Ensembl chr 4:178,949,137...178,982,910

G

LDL receptor related protein 2

ClinVar Annotator: match by term: Prolactinoma, familial

PMID:17632512 PMID:25682901 PMID:25741868 PMID:28492532

NCBI chr2B:56,407,871...56,640,471
Ensembl chr2B:173,873,767...174,103,697

G

menin 1

OMIM:600634

NCBI chr11:60,159,009...60,166,222
Ensembl chr11:63,499,962...63,507,164

G

MYC proto-oncogene, bHLH transcription factor

mRNA:increased expression:pituitary gland (rat)

NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863

G

noggin

mRNA, protein:decreased expression:pituitary

NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092

G

neuropeptide Y receptor Y5

protein:increased expression:pars anterior

NCBI chr 4:155,603,739...155,612,302

G

prolactin

sexual_dimorphism

CTD Direct Evidence: marker/mechanism
protein:increased expression:blood serum (human)
DNA:mutation

PMID:718334 PMID:1407345 PMID:3776530 PMID:9617019 PMID:12124824 More...

RGD:1642576 RGD:401960111 RGD:401976454

NCBI chr 6:22,109,974...22,125,433
Ensembl chr 6:22,450,132...22,459,829

G

prostaglandin-endoperoxide synthase 2

mRNA:increased expression:pituitary gland

NCBI chr 1:162,205,534...162,214,130
Ensembl chr 1:166,355,845...166,364,519

pulmonary venoocclusive disease 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bone morphogenetic protein receptor type 2

ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis

PMID:18626305 PMID:24292273

NCBI chr2B:89,631,622...89,823,438
Ensembl chr2B:207,780,741...207,961,072

G

eukaryotic translation initiation factor 2 alpha kinase 4

ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis

PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 More...

NCBI chr15:18,871,867...18,973,380
Ensembl chr15:37,120,044...37,229,211

rectal benign neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

PMID:8071957 PMID:11766074

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

cyclin dependent kinase inhibitor 1B

CTD Direct Evidence: marker/mechanism

NCBI chr12:12,742,258...12,747,404
Ensembl chr12:13,120,306...13,125,541

G

epidermal growth factor receptor

CTD Direct Evidence: marker/mechanism

NCBI chr 7:55,614,042...55,807,285
Ensembl chr 7:56,046,296...56,111,615

G

Fos proto-oncogene, AP-1 transcription factor subunit

NCBI chr14:55,832,570...55,835,984
Ensembl chr14:74,676,316...74,679,766

G

mitogen-activated protein kinase 8

DNA:SNP: :rs10508901 (human)
DNA:SNP: :rs10857561 (human)

PMID:22199996 PMID:23027623

RGD:13217410 RGD:13217411

NCBI chr10:45,806,748...45,936,362

G

MCC regulator of WNT signaling pathway

CTD Direct Evidence: marker/mechanism

NCBI chr 5:108,382,066...108,845,503
Ensembl chr 5:114,184,907...114,647,847

G

methylenetetrahydrofolate reductase

severity

DNA:transition:cds:g.677C>T (human)

NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419

G

mucin 2, oligomeric mucus/gel-forming

CTD Direct Evidence: marker/mechanism

NCBI chr11:1,106,716...1,144,489
Ensembl chr11:1,143,625...1,169,741

G

NRAS proto-oncogene, GTPase

CTD Direct Evidence: marker/mechanism

NCBI chr 1:87,837,146...87,850,013
Ensembl chr 1:122,890,505...122,903,585

G

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

susceptibility

DNA:SNP:intron: (rs7651265) (human)

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

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

disease_progression

NCBI chr 3:135,685,120...135,867,096
Ensembl chr 3:143,288,563...143,431,314

G

prostate transmembrane protein, androgen induced 1

mRNA:increased expression:rectum

NCBI chr20:53,989,384...54,052,151
Ensembl chr20:55,267,089...55,329,347

G

thymidylate synthetase

CTD Direct Evidence: marker/mechanism

NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320

G

WD repeat containing antisense to TP53

treatment

NCBI chr17:7,715,897...7,735,873
Ensembl chr17:7,707,221...7,723,394

renal adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATPase copper transporting beta

NCBI chr13:33,063,698...33,144,528
Ensembl chr13:51,810,555...51,851,839

renal oncocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

folliculin

CTD Direct Evidence: marker/mechanism

NCBI chr17:34,057,127...34,081,637
Ensembl chr17:38,988,518...39,013,160

Rhabdomyoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

proopiomelanocortin

CTD Direct Evidence: marker/mechanism

NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706

G

TSC complex subunit 2

ClinVar Annotator: match by term: Rhabdomyoma

PMID:10205261 PMID:17304050 PMID:25741868 PMID:28492532 PMID:32211034 More...

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

rhabdomyosarcoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ALK receptor tyrosine kinase

ClinVar Annotator: match by term: Rhabdomyosarcoma

NCBI chr2A:29,196,195...29,930,062
Ensembl chr2A:29,276,041...30,006,735

G

angiopoietin 2

protein:increased expression:blood vessel (rat)

NCBI chr 8:718,367...782,534
Ensembl chr 8:6,506,014...6,566,915

G

BRCA1 DNA repair associated

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:12920083 PMID:16287141 PMID:20104584 PMID:21232165 PMID:22923021 More...

NCBI chr17:14,197,946...14,279,064
Ensembl chr17:14,428,526...14,506,815

G

BRCA2 DNA repair associated

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:8589730 PMID:10188893 PMID:10790213 PMID:11802209 PMID:11920621 More...

NCBI chr13:13,574,422...13,658,967
Ensembl chr13:32,010,066...32,091,332

G

carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

NCBI chr2A:27,218,699...27,245,156
Ensembl chr2A:27,306,527...27,332,804

G

Cbl proto-oncogene

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 More...

NCBI chr11:114,044,996...114,149,204
Ensembl chr11:117,973,187...118,074,671

G

cyclin dependent kinase inhibitor 2A

DNA, mRNA:hypermethylation, decreased expression:promoter, skeletal muscle

NCBI chr 9:21,803,862...21,831,322

G

cannabinoid receptor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 6:86,017,141...86,044,889

G

dicer 1, ribonuclease III

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 More...

NCBI chr14:75,709,029...75,780,779
Ensembl chr14:95,036,385...95,107,940

G

fibroblast growth factor receptor 4

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:19809159 PMID:24124571

NCBI chr 5:172,386,443...172,400,271
Ensembl chr 5:179,454,995...179,467,605

G

HRas proto-oncogene, GTPase

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

G

insulin like growth factor 2

CTD Direct Evidence: marker/mechanism

NCBI chr11:2,170,190...2,199,442
Ensembl chr11:2,202,743...2,228,890

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More...

NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750

G

mutS homolog 2

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:8592341 PMID:10080150 PMID:10323887 PMID:10375096 PMID:11151427 More...

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

G

mutS homolog 6

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:21520333 PMID:25741868 PMID:26467025 PMID:28153049 PMID:28492532 More...

NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779

G

neurofibromin 1

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:1511985 PMID:7655472 PMID:8069310 PMID:8099055 PMID:9536098 More...

NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295

G

PMS1 homolog 2, mismatch repair system component

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:2440087 PMID:7629132 PMID:10037723 PMID:15077197 PMID:16507833 More...

NCBI chr 7:7,433,031...7,459,560
Ensembl chr 7:6,167,403...6,202,984

G

patched 1

ClinVar Annotator: match by term: Rhabdomyosarcoma

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

phosphatase and tensin homolog

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:9259288 PMID:9467011 PMID:9856571 PMID:10848731 PMID:10923032 More...

NCBI chr10:84,587,841...84,689,043
Ensembl chr10:88,093,539...88,194,605

G

prothymosin alpha

CTD Direct Evidence: marker/mechanism

NCBI chr2B:118,959,382...118,964,364

G

succinate dehydrogenase complex flavoprotein subunit A

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:10746566 PMID:15989954 PMID:20484225 PMID:21505157 PMID:21752896 More...

G

succinate dehydrogenase complex subunit C

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:23083876 PMID:24423348 PMID:24758179 PMID:25741868 PMID:27700540 More...

NCBI chr 1:136,724,663...136,773,038
Ensembl chr 1:140,635,685...140,682,736

G

solute carrier family 22 member 18

ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic

PMID:9520460 PMID:25741868

NCBI chr11:2,927,586...2,950,801
Ensembl chr11:2,956,086...2,978,958

G

translocase of inner mitochondrial membrane 10

CTD Direct Evidence: marker/mechanism

NCBI chr11:52,769,429...52,771,763
Ensembl chr11:56,241,078...56,243,351

G

tumor protein p53

ClinVar Annotator: match by term: Rhabdomyosarcoma

PMID:1467311 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1673792 More...

NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120

G

vascular endothelial growth factor A

CTD Direct Evidence: marker/mechanism

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

rosette-forming glioneuronal tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

fibroblast growth factor receptor 1

ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor

PMID:10766980 PMID:23819449 PMID:25741868 PMID:26619011 PMID:26822237 More...

NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904

G

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

ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor

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

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

G

ring finger protein 216

ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor

PMID:26822237 PMID:27626068

NCBI chr 7:5,872,118...6,037,073
Ensembl chr 7:5,891,909...6,051,979

Schopf-Schulz-Passarge syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Wnt family member 10A

ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome

PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More...

NCBI chr2B:106,140,859...106,154,301
Ensembl chr2B:224,736,598...224,747,912

schwannomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Schwannomatosis

PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 More...

NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis

PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:25741868 More...

NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921

schwannomatosis 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

ClinVar Annotator: match by term: Schwannomatosis 1

PMID:7798645 PMID:9399891 PMID:25741868

NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

ClinVar Annotator: match by term: Schwannomatosis 1 | ClinVar Annotator: match by term: Schwannomatosis 1, somatic

PMID:10521299 PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 More...

NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921

schwannomatosis 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine zipper like post translational regulator 1

ClinVar Annotator: match by term: Schwannomatosis 2

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23917401 PMID:23999291 More...

NCBI chr22:3,206,019...3,223,050
Ensembl chr22:19,695,228...19,713,007

sebaceous gland neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin dependent kinase inhibitor 1A

NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599

G

lymphoid enhancer binding factor 1

CTD Direct Evidence: marker/mechanism

NCBI chr 4:100,552,959...100,674,156
Ensembl chr 4:111,125,312...111,245,980

seborrheic keratosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

annexin A1

NCBI chr 9:51,647,404...51,665,990
Ensembl chr 9:71,929,728...71,948,779

G

fibroblast growth factor receptor 3

ClinVar Annotator: match by term: Keratosis Seborrheica

PMID:1908846 PMID:7773297 PMID:8589699 PMID:8640234 PMID:8858131 More...

NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692

G

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

ClinVar Annotator: match by term: Keratosis Seborrheica | ClinVar Annotator: match by term: Seborrheic keratosis

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

NCBI chr 3:176,182,765...176,272,024
Ensembl chr 3:184,355,785...184,441,977

sigmoid neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

APC regulator of WNT signaling pathway

ClinVar Annotator: match by term: Sigmoid colon cancer

PMID:25741868 PMID:28492532

NCBI chr 5:108,070,697...108,208,273
Ensembl chr 5:113,904,352...114,009,709

G

mutS homolog 2

ClinVar Annotator: match by term: Sigmoid colon cancer

PMID:10495924 PMID:12658575 PMID:15849733 PMID:17312306 PMID:18566915 More...

NCBI chr2A:47,524,468...47,602,376
Ensembl chr2A:48,447,207...48,554,461

G

mutS homolog 6

ClinVar Annotator: match by term: Sigmoid colon cancer

PMID:9354786 PMID:12376507 PMID:18809606 PMID:19924528 PMID:20176959 More...

NCBI chr2A:47,901,591...47,926,662
Ensembl chr2A:48,824,350...48,849,779

skin benign neoplasm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HRas proto-oncogene, GTPase

associated with Nevus, Sebaceous of Jadassohn;DNA:mutation:cds:c.37G>C(p.G13R)(human)

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

skin hemangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

gap junction protein alpha 4

ClinVar Annotator: match by term: Skin hemangioma

NCBI chr 1:34,059,901...34,063,181

skin papilloma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-C motif chemokine ligand 20

protein:decreased expression:skin

NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225

G

clusterin

NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523

G

fibroblast growth factor 10

protein:increased expression:skin (mouse)

NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706

G

neuregulin 1

DNA:hypermethylation:

NCBI chr 8:30,954,852...32,084,411
Ensembl chr 8:29,050,222...29,263,977

G

toll like receptor 2

protein:increased expression,altered expression:cytoplasm,membrane, nucleus:

NCBI chr 4:146,024,653...146,091,388
Ensembl chr 4:157,866,977...157,869,331

smooth muscle tumor

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

N-myc downstream regulated 1

CTD Direct Evidence: marker/mechanism

NCBI chr 8:129,891,918...129,952,489
Ensembl chr 8:132,866,245...132,926,514

Solitary Fibrous Tumors

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NGFI-A binding protein 2

CTD Direct Evidence: marker/mechanism

PMID:23313952 PMID:23313954

Ensembl chr12:32,085,031...32,091,498

G

signal transducer and activator of transcription 6

CTD Direct Evidence: marker/mechanism

PMID:23313952 PMID:23313954

Ensembl chr12:32,068,679...32,085,099

Sturge-Weber syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin H

ClinVar Annotator: match by term: Parkes Weber syndrome

PMID:24038909 PMID:25741868 PMID:27081547 PMID:28492532 PMID:28655553 More...

NCBI chr 5:27,958,859...27,995,815
Ensembl chr 5:28,094,064...28,116,149

G

fibronectin 1

mRNA, protein:increased expression:cerebral cortex

NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003

G

guanine nucleotide-binding protein G(q) subunit alpha

ClinVar Annotator: match by term: Sturge-Weber syndrome

PMID:1328859 PMID:2549426 PMID:18719078 PMID:19078957 PMID:21083380 More...

NCBI chr 9:46,816,409...47,129,116
Ensembl chr 9:76,575,815...76,773,849

G

mitogen-activated protein kinase kinase 1

ClinVar Annotator: match by term: Parkes Weber syndrome

NCBI chr15:45,337,117...45,438,826
Ensembl chr15:63,613,961...63,714,161

G

matrix metallopeptidase 2

severity

protein:increased expression:urine

NCBI chr16:35,711,866...35,738,881
Ensembl chr16:54,812,694...54,844,279

G

matrix metallopeptidase 9

severity

protein:increased expression:urine

NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129

G

RAS p21 protein activator 1

ClinVar Annotator: match by term: Parkes Weber syndrome

PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:27081547 More...

NCBI chr 5:27,980,907...28,104,368
Ensembl chr 5:28,115,159...28,240,321

subependymal giant cell astrocytoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calcium voltage-gated channel subunit alpha1 A

ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma

PMID:25741868 PMID:28492532

NCBI chr19:12,769,586...13,189,022
Ensembl chr19:13,507,102...13,804,729

subserous uterine fibroid

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

trinucleotide repeat containing adaptor 6B

severity

DNA:SNP: :rs12484776(human)

NCBI chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914

Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

microtubule actin crosslinking factor 1

ClinVar Annotator: match by term: Facial hemangioma

NCBI chr 1:38,369,021...38,771,911
Ensembl chr 1:39,820,394...40,096,558

thyroid adenoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

multiple inositol-polyphosphate phosphatase 1

ClinVar Annotator: match by term: Thyroid adenoma

NCBI chr10:84,230,676...84,280,042
Ensembl chr10:87,737,649...87,787,130

thyroid gland Hurthle cell carcinoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

chromobox 7

protein:decreased expression:thyroid Human)

NCBI chr22:20,037,529...20,059,459
Ensembl chr22:37,854,056...37,876,084

G

proteasome 20S subunit beta 9

NCBI chr 6:32,423,614...32,429,062
Ensembl chr 6:33,539,060...33,564,402

Trichilemmoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

HRas proto-oncogene, GTPase

associated with Nevus sebaceous; DNA:mutation:exon:c.37G>C (p.G13R)(human)

NCBI chr11:537,488...540,810
Ensembl chr11:568,305...571,078

Tufted Angioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

G protein subunit alpha 14

ClinVar Annotator: match by term: Tufted angioma

NCBI chr 9:47,196,338...47,423,388

G

kinase insert domain receptor

ClinVar Annotator: match by term: Tufted angioma

PMID:25741868 PMID:26422291 PMID:28492532

NCBI chr 4:68,813,894...68,861,018
Ensembl chr 4:75,377,375...75,427,109

uterine fibroid

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adenosine deaminase

susceptibility

DNA:polymorphisms: :

NCBI chr20:40,950,238...40,982,481
Ensembl chr20:42,044,613...42,076,868

G

Bet1 golgi vesicular membrane trafficking protein like

DNA:SNP:rs2280543(human)

NCBI chr11:197,901...203,307
Ensembl chr11:242,985...248,762

G

collagen type IV alpha 1 chain

DNA:hypomethylation:uterus (human)

NCBI chr13:91,282,617...91,440,187
Ensembl chr13:110,407,009...110,562,529

G

collagen type IV alpha 2 chain

mRNA:increased expression:uterus (human)

NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530

G

collagen type VI alpha 3 chain

DNA:hypomethylation:uterus (human)

NCBI chr2B:124,554,478...124,644,482

G

death associated protein kinase 1

DNA:hypermethylation:uterus (human)

NCBI chr 9:58,628,872...58,836,205
Ensembl chr 9:86,681,953...86,887,958

G

distal-less homeobox 3

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr17:44,076,437...44,081,690
Ensembl chr17:48,950,474...48,955,848

G

fumarate hydratase

ClinVar Annotator: match by term: Uterine leiomyoma

PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532

NCBI chr 1:217,059,847...217,081,795
Ensembl chr 1:222,041,142...222,064,212

G

glutathione S-transferase mu 5

DNA:hypermethylation:uterus (human)

NCBI chr 1:112,356,184...112,361,731
Ensembl chr 1:127,979,238...128,010,411

G

high mobility group AT-hook 2

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr12:22,954,946...23,096,623

G

insulin receptor substrate 1

mRNA:increased expression:uterus (human)

NCBI chr2B:113,973,191...114,041,127
Ensembl chr2B:232,849,239...232,852,967

G

mediator complex subunit 12

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr X:60,386,820...60,410,730
Ensembl chr X:70,443,667...70,466,942

G

NUAK family kinase 1

mRNA:decreased expression:uterus (human)

NCBI chr12:103,642,744...103,720,352
Ensembl chr12:107,037,627...107,113,163

G

patched 1

ClinVar Annotator: match by term: Uterine leiomyoma

NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453

G

trinucleotide repeat containing adaptor 6B

severity

DNA:SNP: :rs12484776(human)

NCBI chr22:21,149,646...21,240,006
Ensembl chr22:38,850,107...39,045,914

G

TSC complex subunit 2

OMIM:150699

NCBI chr16:615,776...655,411
Ensembl chr16:2,135,696...2,175,569

uterus interstitial leiomyoma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BCL2 like 1

associated with Carcinoma, Renal Cell;protein:increased expression:uterus

NCBI chr20:27,955,688...28,015,950
Ensembl chr20:29,088,055...29,146,585

Vein of Galen Aneurysm

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

claudin 14

ClinVar Annotator: match by term: Galen vein aneurysm

PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106

NCBI chr21:22,830,770...22,946,594
Ensembl chr21:36,187,306...36,188,025

G

EPH receptor B4

ClinVar Annotator: match by term: Galen vein aneurysm

NCBI chr 7:92,827,550...92,852,462
Ensembl chr 7:106,223,427...106,248,022

G

lysine acetyltransferase 6A

ClinVar Annotator: match by term: Galen vein aneurysm

NCBI chr 8:41,173,833...41,296,547
Ensembl chr 8:38,625,156...38,741,538

G

lysine methyltransferase 2D

ClinVar Annotator: match by term: Galen vein aneurysm

PMID:28492532 PMID:30578106

NCBI chr12:39,689,463...39,731,904
Ensembl chr12:40,575,083...40,608,661

G

Kell metallo-endopeptidase (Kell blood group)

ClinVar Annotator: match by term: Galen vein aneurysm

NCBI chr 7:134,897,567...135,237,214
Ensembl chr 7:147,423,103...147,443,895
Ensembl chr 7:147,423,103...147,443,895

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

ClinVar Annotator: match by term: Galen vein aneurysm

NCBI chr 9:1,818,004...1,997,652
Ensembl chr 9:2,013,237...2,189,409

verrucous keratotic hemangioma

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

mitogen-activated protein kinase kinase kinase 3

ClinVar Annotator: match by term: Verrucous venous malformation

NCBI chr17:57,702,242...57,776,601
Ensembl chr17:62,858,635...62,922,874

vestibular schwannomatosis

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 1 subunit beta 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,383,036...10,443,655
Ensembl chr22:28,189,831...28,285,007

G

activating signal cointegrator 1 complex subunit 2

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,832,102...10,881,987
Ensembl chr22:28,637,041...28,686,003

G

chromosome 23 C22orf31 homolog

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,114,034...10,129,561
Ensembl chr22:27,813,912...27,817,168

G

calcium binding protein 7

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,763,495...10,775,460

G

coiled-coil domain containing 117

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:9,841,876...9,891,088
Ensembl chr22:27,544,719...27,561,144

G

checkpoint kinase 2

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:9,757,038...9,811,171

G

EMI domain containing 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,261,598...10,315,182
Ensembl chr22:28,070,033...28,122,186

G

EWS RNA binding protein 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,323,622...10,356,039
Ensembl chr22:28,131,109...28,163,134

G

growth arrest specific 2 like 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,362,391...10,368,173
Ensembl chr22:28,169,387...28,175,278

G

HscB mitochondrial iron-sulfur cluster cochaperone

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:9,811,294...9,826,245
Ensembl chr22:27,512,564...27,527,914

G

kringle containing transmembrane protein 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,128,326...10,202,548
Ensembl chr22:27,828,011...28,031,917

G

cytochrome b-c1 complex subunit 9

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,810,858...10,813,466
Ensembl chr22:28,615,583...28,618,426

G

myotubularin related protein 3

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,925,275...11,072,554
Ensembl chr22:28,818,273...28,872,982

G

neurofilament heavy chain

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,525,738...10,536,788

G

NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:1479598 PMID:2543905 PMID:4000972 PMID:7535084 PMID:7666400 More...

NCBI chr22:10,648,022...10,738,167
Ensembl chr22:28,454,119...28,544,013

G

nipsnap homolog 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,600,285...10,626,474
Ensembl chr22:28,406,638...28,432,897

G

RAS like family 10 member A

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,368,321...10,371,137

G

ret finger protein like 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

G

rhomboid domain containing 3

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,315,438...10,323,803
Ensembl chr22:28,123,115...28,131,090

G

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)

NCBI chr22:4,542,764...4,589,461
Ensembl chr22:22,627,982...22,673,921

G

THO complex subunit 5

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,553,665...10,599,948
Ensembl chr22:28,357,644...28,404,346

G

vascular endothelial growth factor A

PMID:19587327 PMID:20406973

RGD:8547955 RGD:8547957

NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353

G

X-box binding protein 1

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:9,863,479...9,869,491
Ensembl chr22:27,567,041...27,571,943

G

zinc finger matrin-type 5

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:10,774,446...10,810,609
Ensembl chr22:28,580,010...28,615,498

G

zinc and ring finger 3

ClinVar Annotator: match by term: Neurofibromatosis, type 2

PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 More...

NCBI chr22:9,891,021...10,109,147
Ensembl chr22:27,742,301...27,810,427

von Hippel-Lindau disease

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BRICK1 subunit of SCAR/WAVE actin nucleating complex

ClinVar Annotator: match by term: Von Hippel-Lindau syndrome

NCBI chr 3:10,051,054...10,062,364
Ensembl chr 3:10,403,896...10,415,545

G

cyclin D1

susceptibility

ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF

PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 More...

NCBI chr11:64,737,006...64,750,353

G

endothelial PAS domain protein 1

protein:increased expression:kidney:

NCBI chr2A:46,403,411...46,492,734
Ensembl chr2A:47,332,308...47,421,560

G

interleukin 1 receptor associated kinase 2

ClinVar Annotator: match by term: Von Hippel-Lindau syndrome

NCBI chr 3:10,100,279...10,179,487
Ensembl chr 3:10,453,329...10,532,629

G

matrix metallopeptidase 3

onset

NCBI chr11:97,776,729...97,784,549
Ensembl chr11:101,267,566...101,275,354

G

succinate dehydrogenase complex iron sulfur subunit B

ClinVar Annotator: match by term: Von Hippel-Lindau syndrome

PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 More...

NCBI chr 1:15,962,383...15,998,056
Ensembl chr 1:17,018,542...17,054,509

G

solute carrier family 18 member A1

mRNA:increased expression:tumor (human)

NCBI chr 8:19,369,843...19,408,412
Ensembl chr 8:16,318,744...16,353,708

G

von Hippel-Lindau tumor suppressor

ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome

PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:7553625 More...

NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234

WHIM syndrome 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

C-X-C motif chemokine receptor 4

ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 | ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 More...

NCBI chr2B:23,744,271...23,748,106
Ensembl chr2B:140,181,829...140,189,647

G

aspartyl-tRNA synthetase 1

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr2B:23,876,931...23,956,032
Ensembl chr2B:139,977,483...140,056,836

G

lactase

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr2B:24,025,383...24,079,779
Ensembl chr2B:139,855,605...139,908,764

G

minichromosome maintenance complex component 6

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr2B:23,986,278...24,023,045
Ensembl chr2B:139,911,909...139,947,687

G

R3H domain containing 1

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr2B:24,141,258...24,331,499
Ensembl chr2B:139,654,036...139,793,678

G

RAB3 GTPase activating protein catalytic subunit 1

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr2B:24,692,363...24,810,685
Ensembl chr2B:139,125,375...139,242,721

G

UBX domain protein 4

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr2B:24,081,450...24,124,876
Ensembl chr2B:139,810,274...139,850,671

G

zinc finger RANBP2-type containing 3

ClinVar Annotator: match by term: Warts, hypogammaglobulinemia, infections, and myelokathexis

NCBI chr2B:24,331,731...24,665,652
Ensembl chr2B:139,234,909...139,577,193

Worster-Drought Syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

transmembrane O-mannosyltransferase targeting cadherins 4

ClinVar Annotator: match by term: Worster-Drought syndrome

NCBI chr13:81,771,668...81,841,926
Ensembl chr13:100,910,277...100,976,164

Term paths to the root

Path 1
Term	Annotations
disease	17996
disease of cellular proliferation	7240
Neoplasms by Site	6708
organ system benign neoplasm	1254
cardiovascular organ benign neoplasm +	126
endocrine organ benign neoplasm +	144
gastrointestinal system benign neoplasm +	215
immune system organ benign neoplasm +	0
integumentary system benign neoplasm +	191
intracranial cavernous angioma	0
musculoskeletal system benign neoplasm +	120
nervous system benign neoplasm +	720
reproductive organ benign neoplasm +	41
respiratory system benign neoplasm +	4
thoracic benign neoplasm +	2
urinary system benign neoplasm +	4

paths to the root