RGD DISEASE ONTOLOGY - ANNOTATIONS
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
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
xref: EFO:0002422
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Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10686957
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Artn
artemin
ISO
mRNA:increased expression:peripheral nerve:
RGD
PMID:19937367
RGD:8655552
NCBI chr 5:136,750,188...136,755,645
Ensembl chr 5:131,464,756...131,468,025
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Bdnf
brain-derived neurotrophic factor
ISO
mRNA:increased expression:peripheral nerve:
RGD
PMID:19937367
RGD:8655552
NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:96,165,042...96,215,615
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Cav1
caveolin 1
ISO
RGD
PMID:20881564
RGD:8661782
NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
mRNA,protein:decreased expression:myelinated nerve:
RGD
PMID:20600642
RGD:8661792
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
ISO
DNA:snp:promoter:c.-1053C>T (human)
RGD
PMID:12540498
RGD:1358568
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023
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Ercc2
ERCC excision repair 2, TFIIH core complex helicase subunit
susceptibility
ISO
DNA:missense mutation:cds:p.D312N (rs1799793) (human)
RGD
PMID:20150366
RGD:5688735
NCBI chr 1:88,161,342...88,175,102
Ensembl chr 1:79,033,326...79,047,102
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Fgfr1
Fibroblast growth factor receptor 1
disease_progression
ISO
RGD
PMID:15354013
RGD:11567268
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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Gdnf
glial cell derived neurotrophic factor
ISO
mRNA:increased expression:peripheral nerve:
RGD
PMID:19937367
RGD:8655552
NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209
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Igf1
insulin-like growth factor 1
susceptibility
ISO
protein:increased expression:serum:
RGD
PMID:21788435
RGD:8548833
NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:22,282,930...22,359,296
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Igfbp3
insulin-like growth factor binding protein 3
susceptibility
ISO
protein:increased expression:serum:
RGD
PMID:21788435
RGD:8548833
NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
protein:decreased expression:myelinated nerve: ClinVar Annotator: match by term: Acoustic neuroma
ClinVar RGD
PMID:8081368 PMID:8757035 PMID:12118253 PMID:25741868 PMID:28492532 PMID:20600642 More...
RGD:8661792
NCBI chr14:83,850,894...83,934,263
Ensembl chr14:79,627,399...79,710,667
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:14660915
RGD:8547959
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pituitary adenoma, acth-secreting, somatic
CTD ClinVar
PMID:17360484 PMID:18381572 PMID:19366855 PMID:20506337 PMID:20530095 PMID:21454441 PMID:21753072 PMID:22319033 PMID:22720333 PMID:23300914 PMID:23321498 PMID:23633209 PMID:24033266 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25741868 PMID:27153395 PMID:28492532 PMID:29074612 PMID:30461320 PMID:32324286 More...
NCBI chr 1:210,837,473...210,848,691
Ensembl chr 1:201,407,288...201,419,122
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Avpr1b
arginine vasopressin receptor 1B
ISO
RGD
PMID:23884782
RGD:14700670
NCBI chr13:45,598,116...45,611,680
Ensembl chr13:43,046,267...43,057,792
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Bmp4
bone morphogenetic protein 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16195406
NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306
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Usp8
ubiquitin specific peptidase 8
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: USP8-related condition
CTD ClinVar OMIM
PMID:25485838 PMID:25741868 PMID:28492532
NCBI chr 3:134,413,832...134,463,040
Ensembl chr 3:113,962,164...114,009,666
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Atp1a1
ATPase Na+/K+ transporting subunit alpha 1
ISO
ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma
ClinVar
PMID:23416519
NCBI chr 2:191,709,311...191,737,414
Ensembl chr 2:189,020,722...189,048,837
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma
ClinVar
PMID:23416519
NCBI chr X:156,367,582...156,464,085
Ensembl chr X:151,216,507...151,286,775
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Cyp11b1
cytochrome P450, family 11, subfamily b, polypeptide 1
ISO
mRNA:decreased expression:adrenal gland (human)
RGD
PMID:12457455
RGD:4891170
NCBI chr 7:108,653,385...108,660,062
Ensembl chr 7:106,718,274...106,779,278
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Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
ISO
mRNA:increased expression:adrenal gland (human)
RGD
PMID:12457455
RGD:4891170
NCBI chr 7:108,719,349...108,726,024
Ensembl chr 7:106,838,590...106,845,004
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Cyp11b3
cytochrome P450, family 11, subfamily b, polypeptide 3
ISO
mRNA:increased expression:adrenal gland (human)
RGD
PMID:12457455
RGD:4891170
NCBI chr 7:108,689,319...108,694,808
Ensembl chr 7:106,808,559...106,814,048
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Men1
menin 1
ISO
ClinVar Annotator: match by term: Adrenocortical adenoma
ClinVar
PMID:10647896
NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
ISO
associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human)
RGD
PMID:24855271
RGD:13515122
NCBI chr19:41,059,843...41,083,189
Ensembl chr19:24,155,090...24,178,430
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Prkacb
protein kinase cAMP-activated catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29669941
NCBI chr 2:238,297,140...238,389,317
Ensembl chr 2:235,636,885...235,726,198
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Kif1b
kinesin family member 1B
ISO
ClinVar Annotator: match by term: Adrenal gland pheochromocytoma
ClinVar
PMID:25741868
NCBI chr 5:164,890,778...165,025,848
Ensembl chr 5:159,561,271...159,742,778
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Mki67
marker of proliferation Ki-67
severity
ISO
RGD
PMID:21696422
RGD:6483520
NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762
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Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11816139
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Ccn2
cellular communication network factor 2
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:19366727
RGD:2314525
NCBI chr 1:22,621,498...22,624,614
Ensembl chr 1:20,802,199...20,805,734
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Serpine1
serpin family E member 1
susceptibility
ISO
associated with Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human)
RGD
PMID:17160433
RGD:13208596
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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Tnf
tumor necrosis factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19944662
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Foxo1
forkhead box O1
ISO
ClinVar Annotator: match by term: FOXO1-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868 PMID:28492532
NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:136,312,168...136,387,790
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Pax3
paired box 3
ISO
DNA:translocations: (human) ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:8589691 PMID:8799378 PMID:9654197 PMID:20199465 PMID:20478267 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:32747562 PMID:15313887 More...
RGD:1580944
NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:79,568,634...79,664,042
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Pax7
paired box 7
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma | ClinVar Annotator: match by term: RHABDOMYOSARCOMA 2
OMIM CTD ClinVar
PMID:25741868 PMID:31092906 PMID:32214227
NCBI chr 5:157,279,623...157,381,188
Ensembl chr 5:151,999,092...152,097,979
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Tp73
tumor protein p73
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21245298
NCBI chr 5:169,903,801...169,988,075
Ensembl chr 5:164,621,377...164,681,128
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Wwtr1
WW domain containing transcription regulator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31494105
NCBI chr 2:143,801,181...143,916,941
Ensembl chr 2:141,648,108...141,766,968
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Aspscr1
ASPSCR1 tether for SLC2A4, UBX domain containing
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr10:106,450,600...106,488,231
Ensembl chr10:105,952,227...105,989,904
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859340
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Smo
smoothened, frizzled class receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24859340
NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829
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Gla
galactosidase, alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19925601
NCBI chr X:102,062,497...102,073,915
Ensembl chr X:97,768,996...97,780,664
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Naga
alpha-N-acetylgalactosaminidase
ISO
Kanzaki Disease, OMIM:609242, DNA:point mutation:exon:R329W
RGD
PMID:8040340
RGD:1600558
NCBI chr 7:115,726,438...115,735,494
Ensembl chr 7:113,846,374...113,855,315
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Ankib1
ankyrin repeat and IBR domain containing 1
ISO
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas
ClinVar
PMID:25741868
NCBI chr 4:31,288,393...31,412,500
Ensembl chr 4:30,333,677...30,457,781
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Krit1
KRIT1, ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas
ClinVar
PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 4:31,253,918...31,288,066
Ensembl chr 4:30,299,203...30,333,359
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Creb1
cAMP responsive element binding protein 1
ISO
ClinVar Annotator: match by term: Angiomatoid fibrous histiocytoma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:25741868
NCBI chr 9:73,397,333...73,466,339
Ensembl chr 9:65,903,547...65,970,816
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Mettl21a
methyltransferase 21A, HSPA lysine
ISO
ClinVar Annotator: match by term: Angiomatoid fibrous histiocytoma
ClinVar
PMID:25741868
NCBI chr 9:73,400,223...73,484,677
Ensembl chr 9:65,978,051...65,987,550
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:17545018
RGD:7483603
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:84,388,904...84,391,629
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Cd8a
CD8 subunit alpha
ISO
mRNA:decreased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr 4:104,924,116...104,928,353
Ensembl chr 4:103,365,804...103,370,040
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Ctla4
cytotoxic T-lymphocyte-associated protein 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963
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Foxp3
forkhead box P3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:14,908,494...14,923,838
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Ifna1
interferon, alpha 1
treatment
ISO
RGD
PMID:25774455
RGD:36174028
NCBI chr 5:108,143,240...108,143,809
Ensembl chr 5:103,097,356...103,097,925
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Il10
interleukin 10
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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Il12b
interleukin 12B
treatment
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr10:29,390,300...29,405,194
Ensembl chr10:28,893,008...28,902,903
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Il2
interleukin 2
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:120,004,862...120,009,566
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Il21
interleukin 21
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:31414711
RGD:127285371
NCBI chr 2:122,045,240...122,055,142
Ensembl chr 2:120,119,444...120,126,996
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Il4
interleukin 4
treatment
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:16114559 PMID:23754510
RGD:7829774 , RGD:40400714
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
protein:decreased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Klrk1
killer cell lectin like receptor K1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:163,081,927...163,092,459
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Mapk8
mitogen-activated protein kinase 8
treatment
ISO
mRNA:increased expression:zone of skin (human)
RGD
PMID:25774455
RGD:36174028
NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,638,924...8,721,981
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Myd88
MYD88, innate immune signal transduction adaptor
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415
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Ncr1
natural cytotoxicity triggering receptor 1
ISO
mRNA,protein:decreased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:78,657,409...78,665,255
Ensembl chr 1:69,616,601...69,660,558
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Pdcd1
programmed cell death 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925
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Ptpn6
protein tyrosine phosphatase, non-receptor type 6
ISO
protein:increased expression:foreskin
RGD
PMID:18543080
RGD:39128248
NCBI chr 4:159,212,320...159,237,069
Ensembl chr 4:157,526,035...157,550,984
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Serpinf1
serpin family F member 1
disease_progression
ISO
mRNA, protein:decreased expression:skin of body (human)
RGD
PMID:23569025
RGD:27226706
NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646
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Tgfb1
transforming growth factor, beta 1
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Tlr2
toll-like receptor 2
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
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Tlr3
toll-like receptor 3
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr16:53,554,916...53,572,321
Ensembl chr16:46,822,039...46,836,545
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Tlr4
toll-like receptor 4
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:80,145,826...80,159,628
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Tlr7
toll-like receptor 7
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:30,644,324...30,670,796
Ensembl chr X:27,027,425...27,054,754
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Tlr8
toll-like receptor 8
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr X:30,708,714...30,733,104
Ensembl chr X:27,091,778...27,116,549
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Tlr9
toll-like receptor 9
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:106,864,680...106,868,796
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Tnf
tumor necrosis factor
ISO
protein:increased expression:peripheral blood mononuclear cells (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,622,011...3,624,629
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Tnfrsf18
TNF receptor superfamily member 18
ISO
mRNA,protein:increased expression:multiple (human)
RGD
PMID:23754510
RGD:40400714
NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:166,618,969...166,622,353
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Ifnb1
interferon beta 1
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12170190 PMID:12397731
NCBI chr 5:108,066,650...108,067,487
Ensembl chr 5:103,020,969...103,021,523
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Daxx
death-domain associated protein
ISO
DNA:CNV: (human)
RGD
PMID:30962504
RGD:152025217
NCBI chr20:4,971,973...4,978,062
Ensembl chr20:4,970,092...4,975,843
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Nap1l1
nucleosome assembly protein 1-like 1
severity
ISO
mRNA:increased expression:appendix, mucosa (human)
RGD
PMID:16794389
RGD:9590083
NCBI chr 7:48,819,464...48,844,108
Ensembl chr 7:46,933,356...46,956,593
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Ace
angiotensin I converting enzyme
treatment
IEP IMP
protein:increased activity:heart left ventricle (rat)
RGD
PMID:22768235 PMID:8386093
RGD:12859285 , RGD:12880017
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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Ackr1
atypical chemokine receptor 1
IEP
RGD
PMID:24429330
RGD:9681736
NCBI chr13:85,782,396...85,784,015
Ensembl chr13:85,782,398...85,783,983
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Angpt2
angiopoietin 2
IEP
mRNA:increased expression:lung (rat)
RGD
PMID:18692629
RGD:2314184
NCBI chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804
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Arrb1
arrestin, beta 1
IEP
mRNA, protein:altered expression:left ventricle (rat)
RGD
PMID:22015551
RGD:5509867
NCBI chr 1:163,249,654...163,321,711
Ensembl chr 1:153,838,078...153,904,061
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Arrb2
arrestin, beta 2
IEP
mRNA, protein:altered expression:left ventricle (rat)
RGD
PMID:22015551
RGD:5509867
NCBI chr10:55,645,539...55,653,485
Ensembl chr10:55,146,818...55,154,850
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Col1a1
collagen type I alpha 1 chain
IEP
in Long Evans rats;mRNA:increased expression:aorta
RGD
PMID:16428894
RGD:8552771
NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624
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Des
desmin
IEP
RGD
PMID:10591032
RGD:13525010
NCBI chr 9:84,299,626...84,307,344
Ensembl chr 9:76,850,982...76,858,699
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:10541235
RGD:8655590
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
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Mmp2
matrix metallopeptidase 2
treatment
IEP ISO
protein:increased expression:ileal vein
RGD
PMID:17398390 PMID:23924957
RGD:1642040 , RGD:13204800
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
treatment
IEP ISO
RGD
PMID:17398390 PMID:23924957
RGD:1642040 , RGD:13204800
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Nos3
nitric oxide synthase 3
IEP
protein:increased expression:vena cava
RGD
PMID:17344190
RGD:2292146
NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:10,793,834...10,814,166
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Rbp4
retinol binding protein 4
exacerbates
ISO
protein:increased expression:blood serum (human)
RGD
PMID:33556944
RGD:329845868
NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
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Timp4
TIMP metallopeptidase inhibitor 4
IEP
protein:decreased expression:ileal vein
RGD
PMID:17398390
RGD:1642040
NCBI chr 4:149,978,667...149,985,350
Ensembl chr 4:148,304,490...148,312,558
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Vegfa
vascular endothelial growth factor A
IEP ISO
protein:increased expression:brain cortex, brain dura mater:
RGD
PMID:24626343 PMID:10541235
RGD:8551823 , RGD:8655590
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Acvrl1
activin A receptor like type 1
ISO
RGD
PMID:11062473
RGD:1300250
NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:132,239,729...132,256,591
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Eng
endoglin
susceptibility
ISO
associated with Telangiectasia, Hereditary Hemorrhagic;
RGD
PMID:8728706 PMID:24520391
RGD:11041184 , RGD:11041564
NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230
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Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Arteriovenous malformation
ClinVar
PMID:25741868 PMID:28687708 PMID:30578106 PMID:30760892
NCBI chr12:24,963,174...24,988,473
Ensembl chr12:19,326,427...19,351,314
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Glmn
glomulin, FKBP associated protein
ISO
glomuvenous malformations
RGD
PMID:11845407
RGD:1598992
NCBI chr14:2,332,052...2,375,366
Ensembl chr14:2,187,642...2,230,420
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Map2
microtubule-associated protein 2
IEP
protein:decreased expression:hippocampus
RGD
PMID:20873448
RGD:6483324
NCBI chr 9:75,173,038...75,431,606
Ensembl chr 9:67,723,371...67,979,809
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Mir10a
microRNA 10a
ISO
miRNA:decreased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr10:81,779,709...81,779,818
Ensembl chr10:81,283,171...81,283,280
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Mir193a
microRNA 193a
ISO
miRNA:decreased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr10:65,170,306...65,170,417
Ensembl chr10:64,672,343...64,672,454
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Mir210
microRNA 210
ISO
associated with hereditary hemorrhagic telangiectasia; miRNA:increased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr 1:205,755,923...205,756,032
Ensembl chr 1:196,326,337...196,326,454
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Mir214
microRNA 214
ISO
miRNA:increased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr13:77,121,645...77,121,752
Ensembl chr13:74,588,372...74,588,481
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Mir34a
microRNA 34a
ISO
miRNA:increased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
NCBI chr 5:165,815,952...165,816,053
Ensembl chr 5:160,533,002...160,533,103
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Mir486
microRNA 486
ISO
miRNA:increased expression:blood plasma (human)
RGD
PMID:23051042
RGD:155582214
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Mmp9
matrix metallopeptidase 9
ISO
RGD
PMID:16720380
RGD:1582655
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Arteriovenous malformation
ClinVar
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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Rasa1
RAS p21 protein activator 1
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14639529 PMID:15917201
RGD:1581296
NCBI chr 2:17,593,136...17,676,707
Ensembl chr 2:15,857,980...15,940,854
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Tek
TEK receptor tyrosine kinase
susceptibility
ISO
DNA:missense mutation: :p.R849W
RGD
PMID:8980225
RGD:1578533
NCBI chr 5:114,722,815...114,849,535
Ensembl chr 5:109,607,077...109,733,804
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Acvrl1
activin A receptor like type 1
ISS
OMIM:108010
MouseDO
NCBI chr 7:134,117,917...134,135,306
Ensembl chr 7:132,239,729...132,256,591
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Adgrv1
adhesion G protein-coupled receptor V1
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:11,331,442...11,911,688
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:15001635 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19571295 PMID:20818844 PMID:20823850 PMID:21107320 PMID:21107323 PMID:22039425 PMID:22113612 PMID:22281684 PMID:23302800 PMID:23685455 PMID:24512911 PMID:24670642 PMID:24717435 PMID:25079330 PMID:25741868 PMID:25950823 PMID:28492532 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Cacna1h
calcium voltage-gated channel subunit alpha1 H
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:14,894,630...14,952,317
Ensembl chr10:14,390,113...14,448,376
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Cdh2
cadherin 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr18:8,051,097...8,265,288
Ensembl chr18:7,776,704...7,990,167
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Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Eng
endoglin
disease_progression
ISO ISS
DNA:polymorphism: : 207G>A(human) ClinVar Annotator: match by term: Cerebral arteriovenous malformation OMIM:108010
ClinVar MouseDO RGD
PMID:15879500 PMID:25741868 PMID:28492532 PMID:30120215 PMID:24876084 PMID:24520391 More...
RGD:11041171 , RGD:11041564
NCBI chr 3:36,332,190...36,370,324
Ensembl chr 3:15,934,518...15,973,230
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Flt1
Fms related receptor tyrosine kinase 1
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
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Gli2
GLI family zinc finger 2
ISO
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar
PMID:25741868
NCBI chr13:32,499,678...32,716,418
Ensembl chr13:29,946,809...30,163,574
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Il17rd
interleukin 17 receptor D
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25636053 PMID:25741868 PMID:28492532 PMID:32389901
NCBI chr16:2,235,172...2,489,827
Ensembl chr16:2,228,287...2,292,556
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Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Kras
KRAS proto-oncogene, GTPase
ISO ISS
ClinVar Annotator: match by term: Arteriovenous malformations of the brain | ClinVar Annotator: match by term: Cerebral arteriovenous malformation OMIM:108010 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:1875403 PMID:2278970 PMID:3122217 PMID:7773929 PMID:8439212 PMID:12110640 PMID:12460918 PMID:12720172 PMID:14982869 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16361624 PMID:16434492 PMID:16474404 PMID:16474405 PMID:16618717 PMID:16773572 PMID:17056636 PMID:17324647 PMID:17332249 PMID:17384584 PMID:17409930 PMID:17551339 PMID:17704260 PMID:17875937 PMID:17910045 PMID:18316791 PMID:18456719 PMID:18628094 PMID:18794081 PMID:19018267 PMID:19029981 PMID:19047918 PMID:19075190 PMID:19114683 PMID:19255327 PMID:19349489 PMID:19358724 PMID:19679400 PMID:19773371 PMID:19881948 PMID:20609353 PMID:20652921 PMID:20805368 PMID:20921462 PMID:20921465 PMID:20949522 PMID:20949621 PMID:21044336 PMID:21062266 PMID:21079152 PMID:21169357 PMID:21228335 PMID:21398618 PMID:21871821 PMID:21975775 PMID:22025163 PMID:22235099 PMID:22407852 PMID:22499344 PMID:22683711 PMID:22722830 PMID:22897852 PMID:23014527 PMID:23096712 PMID:23174937 PMID:23255105 PMID:23325582 PMID:23406027 PMID:24033266 PMID:24138715 PMID:24629489 PMID:24703799 PMID:24803665 PMID:25044103 PMID:25157968 PMID:25326637 PMID:25623042 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26372703 PMID:26521233 PMID:26619011 PMID:26861459 PMID:28492532 PMID:29298116 PMID:29948256 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31891627 PMID:34114335 PMID:35794233 More...
NCBI chr 4:179,916,255...179,949,613
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Lemd3
LEM domain containing 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:58,300,556...58,389,485
Ensembl chr 7:56,305,448...56,502,474
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Map4k4
mitogen-activated protein kinase kinase kinase kinase 4
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 9:49,696,573...49,822,353
Ensembl chr 9:42,200,278...42,326,698
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Nlrp3
NLR family, pyrin domain containing 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,328,566...44,352,811
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Notch4
notch receptor 4
ISO ISS
OMIM:108010 ClinVar Annotator: match by term: Cerebral arteriovenous malformation
MouseDO ClinVar RGD
PMID:25741868 PMID:27231971 PMID:19546852
RGD:6480671
NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465
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Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Arteriovenous malformations of the brain
ClinVar
PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 PMID:25741868 PMID:28492532 More...
NCBI chr 2:162,602,516...162,644,690
Ensembl chr 2:160,303,449...160,346,018
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Pitpnm3
PITPNM family member 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr10:57,173,230...57,265,186
Ensembl chr10:56,676,261...56,766,584
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Prex2
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 5:12,720,683...13,036,077
Ensembl chr 5:7,942,573...8,253,068
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Sars1
seryl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:198,753,673...198,769,411
Ensembl chr 2:196,065,430...196,081,277
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Scube2
signal peptide, CUB domain and EGF like domain containing 2
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 1:173,264,862...173,341,323
Ensembl chr 1:163,832,015...163,899,393
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Syn3
synapsin III
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:19,244,032...19,701,571
Ensembl chr 7:17,376,372...17,808,790
G
Timp3
TIMP metallopeptidase inhibitor 3
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:16388189
RGD:1580567
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Zfyve16
zinc finger FYVE-type containing 16
ISO
ClinVar Annotator: match by term: Cerebral arteriovenous malformation
ClinVar
PMID:25741868
NCBI chr 2:23,713,018...23,757,576
Ensembl chr 2:23,713,766...23,756,990
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Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Klln
killin, p53-regulated DNA replication inhibitor
ISO
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar
PMID:2338203 PMID:12844284 PMID:16773562 PMID:17427195 PMID:21194675 PMID:21417916 PMID:21532617 PMID:24033266 PMID:25669429 PMID:25741868 PMID:26467025 PMID:27535533 PMID:27878467 PMID:27884173 PMID:28492532 More...
G
Ldlr
low density lipoprotein receptor
ISO
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar
PMID:20538126 PMID:21376320 PMID:25487149 PMID:25647241 PMID:25741868 PMID:27050191 PMID:28492532 PMID:28502495 PMID:31980526 PMID:33994402 More...
NCBI chr 8:28,546,191...28,569,075
Ensembl chr 8:20,270,041...20,294,580
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar
PMID:15520168 PMID:22658544 PMID:22729222 PMID:23100325 PMID:23946963 PMID:25599672 PMID:25681199 PMID:25741868 PMID:26627007 PMID:27631024 PMID:28492532 PMID:29446767 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 More...
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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Pten
phosphatase and tensin homolog
susceptibility
ISS ISO
OMIM:158350 ClinVar Annotator: match by term: Bannayan-Riley-Ruvalcaba syndrome | ClinVar Annotator: match by term: Cowden syndrome 1 | ClinVar Annotator: match by term: Macrocephaly pseudopapilledema and multiple hemangiomas
MouseDO OMIM ClinVar
PMID:1097835 PMID:1147684 PMID:1336932 PMID:1945792 PMID:2333580 PMID:2338203 PMID:7728760 PMID:8071972 PMID:8673088 PMID:8980400 PMID:9140396 PMID:9241266 PMID:9256433 PMID:9259288 PMID:9265751 PMID:9288766 PMID:9326929 PMID:9356475 PMID:9399897 PMID:9425889 PMID:9467011 PMID:9536098 PMID:9600246 PMID:9619835 PMID:9685848 PMID:9735393 PMID:9740666 PMID:9788441 PMID:9794233 PMID:9811831 PMID:9832031 PMID:9832032 PMID:9856571 PMID:9915974 PMID:10051603 PMID:10076877 PMID:10232405 PMID:10234502 PMID:10353779 PMID:10400993 PMID:10468583 PMID:10554022 PMID:10555148 PMID:10606430 PMID:10698513 PMID:10698713 PMID:10749983 PMID:10772390 PMID:10772829 PMID:10777358 PMID:10848731 PMID:10866302 PMID:10866658 PMID:10920277 PMID:10923032 PMID:10978354 PMID:11035045 PMID:11051241 PMID:11052475 PMID:11071384 PMID:11156408 PMID:11234884 PMID:11238682 PMID:11332402 PMID:11448956 PMID:11476841 PMID:11668501 PMID:11685670 PMID:11748304 PMID:11875759 PMID:11886535 PMID:11918710 PMID:11948419 PMID:12075083 PMID:12085208 PMID:12208743 PMID:12297295 PMID:12372056 PMID:12414663 PMID:12471211 PMID:12614768 PMID:12808147 PMID:12833416 PMID:12844284 PMID:12938083 PMID:14518070 PMID:14566704 PMID:14623110 PMID:14675182 PMID:15120218 PMID:15211648 PMID:15355975 PMID:15372512 PMID:15492994 PMID:15531530 PMID:15659546 PMID:15805158 PMID:16007494 PMID:16014636 PMID:16021145 PMID:16199547 PMID:16506206 PMID:16619501 PMID:16704655 PMID:16752378 PMID:16773562 PMID:16894538 PMID:16952599 PMID:17043057 PMID:17167516 PMID:17213812 PMID:17286265 PMID:17324556 PMID:17392703 PMID:17427195 PMID:17526800 PMID:17526801 PMID:17576681 PMID:17847000 PMID:17873119 PMID:17873882 PMID:17898811 PMID:17928923 PMID:17941496 PMID:17942903 PMID:17954274 PMID:18025323 PMID:18080326 PMID:18558293 PMID:18594467 PMID:18626099 PMID:18757403 PMID:18781614 PMID:18986487 PMID:19190598 PMID:19265751 PMID:19340001 PMID:19457929 PMID:19458356 PMID:19622968 PMID:19829307 PMID:19968660 PMID:20194734 PMID:20223021 PMID:20300775 PMID:20301661 PMID:20533527 PMID:20600018 PMID:20685300 PMID:20712882 PMID:20718038 PMID:20785012 PMID:20926450 PMID:20962022 PMID:21103832 PMID:21190448 PMID:21194675 PMID:21291452 PMID:21333374 PMID:21343951 PMID:21417916 PMID:21475810 PMID:21532617 PMID:21659347 PMID:21822720 PMID:21828076 PMID:21869887 PMID:21956414 PMID:22005521 PMID:22076652 PMID:22261759 PMID:22266152 PMID:22281088 PMID:22320991 PMID:22327138 PMID:22371648 PMID:22381246 PMID:22413754 PMID:22469695 PMID:22491738 PMID:22503188 PMID:22505997 PMID:22520842 PMID:22536362 PMID:22558107 PMID:22595938 PMID:22628360 PMID:22703879 PMID:22911484 PMID:22962422 PMID:22970944 PMID:23066114 PMID:23117110 PMID:23160955 PMID:23161105 PMID:23315997 PMID:23335809 PMID:23349303 PMID:23361946 PMID:23382303 PMID:23399955 PMID:23423780 PMID:23442912 PMID:23470840 PMID:23475934 PMID:23555315 PMID:23613428 PMID:23633456 PMID:23695273 PMID:23744781 PMID:23757202 PMID:23764071 PMID:23825907 PMID:23886400 PMID:23930209 PMID:23934111 PMID:23934601 PMID:24022303 PMID:24033266 PMID:24052722 PMID:24055113 PMID:24099866 PMID:24123798 PMID:24136893 PMID:24292679 PMID:24345843 PMID:24375884 PMID:24379037 PMID:24404930 PMID:24468202 PMID:24498881 PMID:24721394 PMID:24728327 PMID:24763289 PMID:24766807 PMID:24768297 PMID:24778394 PMID:24901346 PMID:24905788 PMID:25132236 PMID:25148578 PMID:25157968 PMID:25186627 PMID:25288137 PMID:25326635 PMID:25336918 PMID:25418537 PMID:25437057 PMID:25448482 PMID:25525159 PMID:25527629 PMID:25549896 PMID:25647146 PMID:25669429 PMID:25722288 PMID:25741868 PMID:25756585 PMID:25875300 PMID:25910213 PMID:25944380 PMID:25980754 PMID:26076150 PMID:26082588 PMID:26099045 PMID:26124082 PMID:26157835 PMID:26229595 PMID:26246517 PMID:26302789 PMID:26376867 PMID:26418532 PMID:26467025 PMID:26468640 PMID:26492180 PMID:26504226 PMID:26517354 PMID:26534844 PMID:26572169 PMID:26579216 PMID:26580448 PMID:26612463 PMID:26633542 PMID:26637798 PMID:26681312 PMID:26773036 PMID:26787237 PMID:26795104 PMID:26798346 PMID:26800850 PMID:26845104 PMID:26898890 PMID:26919320 PMID:27157322 PMID:27324988 PMID:27405757 PMID:27426521 PMID:27428751 PMID:27477328 PMID:27481051 PMID:27489861 PMID:27514801 PMID:27531073 PMID:27535533 PMID:27829222 PMID:27878467 PMID:27884173 PMID:27978560 PMID:28008555 PMID:28013114 PMID:28086757 PMID:28135145 PMID:28235761 PMID:28251007 PMID:28263967 PMID:28286253 PMID:28418444 PMID:28454995 PMID:28475857 PMID:28492532 PMID:28497778 PMID:28523199 PMID:28526761 PMID:28600779 PMID:28655553 PMID:28677221 PMID:28724667 PMID:28741261 PMID:28774669 PMID:28873162 PMID:29043291 PMID:29152901 PMID:29273943 PMID:29282348 PMID:29296277 PMID:29359449 PMID:29371908 PMID:29373119 PMID:29444762 PMID:29496690 PMID:29510612 PMID:29594054 PMID:29608813 PMID:29663862 PMID:29706350 PMID:29706633 PMID:29706646 PMID:29720545 PMID:29752200 PMID:29758562 PMID:29785012 PMID:29806868 PMID:29874181 PMID:29927861 PMID:29931205 PMID:29970488 PMID:30181857 PMID:30287823 PMID:30311369 PMID:30311380 PMID:30327747 PMID:30443844 PMID:30482242 PMID:30528446 PMID:30544257 PMID:30614812 PMID:30659124 PMID:30680046 PMID:30763456 PMID:30809968 PMID:30978501 PMID:31006514 PMID:31079897 PMID:31144778 PMID:31149344 PMID:31159747 PMID:31199785 PMID:31209962 PMID:31220904 PMID:31336731 PMID:31567591 PMID:31594918 PMID:31636093 PMID:31664961 PMID:31970404 PMID:32003824 PMID:32037394 PMID:32123317 PMID:32150788 PMID:32162695 PMID:32185379 PMID:32190315 PMID:32196895 PMID:32238909 PMID:32295079 PMID:32350270 PMID:32366478 PMID:32378608 PMID:32442409 PMID:32461083 PMID:32461654 PMID:32664367 PMID:32670512 PMID:32885271 PMID:32959437 PMID:33077954 PMID:33083010 PMID:33088792 PMID:33372952 PMID:33471991 PMID:33482532 PMID:33600059 PMID:33723755 PMID:33876391 PMID:33887726 PMID:34184188 PMID:34268892 PMID:34308366 PMID:34326862 PMID:34386506 PMID:34518631 PMID:34625746 PMID:34793697 PMID:34906515 PMID:35102303 PMID:35227301 PMID:35241692 PMID:35264596 PMID:35278038 PMID:35534676 PMID:35888045 PMID:35931053 PMID:35971940 PMID:35982159 PMID:36270489 PMID:36453251 PMID:36833222 PMID:36974006 PMID:36988593 PMID:37035742 PMID:37090027 PMID:37307869 PMID:37673932 PMID:37819013 PMID:38311546 PMID:38335860 PMID:38546160 PMID:38645101 More...
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
G
Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
ClinVar Annotator: match by term: Cowden syndrome 1
ClinVar
PMID:19802898 PMID:20923864 PMID:21979946 PMID:23072324 PMID:23512077 PMID:25694510 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30152102 More...
NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24131658
RGD:151361287
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823
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Braf
B-Raf proto-oncogene, serine/threonine kinase
IAGP
DNA:missense mutation:cds:p.V600E (human)
RGD
PMID:25704541
RGD:11521169
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Apob
apolipoprotein B
susceptibility
ISO
DNA:polymorphisms:intron, exon:IVS6+360C>T, 56C>T (human)
RGD
PMID:18296645
RGD:2317550
NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:30,844,368...30,892,497
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Apoe
apolipoprotein E
susceptibility
ISO
DNA:SNP:intron:rs440446 (human)
RGD
PMID:18296645
RGD:2317550
NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:79,353,916...79,357,932
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Atm
ATM serine/threonine kinase
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:9887333 PMID:17124347 PMID:20077034 PMID:25741868 PMID:26635394 PMID:28492532 More...
NCBI chr 8:62,724,939...62,829,040
Ensembl chr 8:53,831,093...53,932,437
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Mir31
microRNA 31
exacerbates
ISO
RNA:increased expression:bile duct (human)
RGD
PMID:29860474
RGD:152998990
NCBI chr 5:108,714,849...108,714,954
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Mlh1
mutL homolog 1
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:15340264 PMID:17510385 PMID:18307539 PMID:19419416 PMID:22136435 PMID:22703879 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 More...
NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617
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Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:25741868 PMID:33357406
NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938
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Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:30287823
NCBI chr 1:186,096,312...186,120,284
Ensembl chr 1:176,665,076...176,688,990
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Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:12007219 PMID:16430766 PMID:17574468 PMID:25741868 PMID:26467025 PMID:27782177 More...
NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128
G
Pold1
DNA polymerase delta 1, catalytic subunit
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:104,161,984...104,178,074
Ensembl chr 1:95,025,499...95,036,465
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Bile duct cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
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Tjp1
tight junction protein 1
ISO
protein:decreased expression:bile duct
RGD
PMID:19184677
RGD:2325030
NCBI chr 1:128,260,330...128,505,018
Ensembl chr 1:118,849,838...119,094,432
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Msln
mesothelin
ISO
protein:increased expression:bile duct
RGD
PMID:17276942
RGD:2326059
NCBI chr10:15,276,489...15,285,921
Ensembl chr10:14,771,961...14,777,643
G
Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24890221
RGD:151361210
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823
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Asph
aspartate-beta-hydroxylase
ISO
mRNA:increased expression:bile duct
RGD
PMID:16673309
RGD:2325824
NCBI chr 5:27,398,933...27,611,519
Ensembl chr 5:22,603,486...22,813,876
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:17341899
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Fscn1
fascin actin-bundling protein 1
disease_progression
ISO
protein:increased expression:bile duct
RGD
PMID:17419223
RGD:2317786
NCBI chr12:16,710,601...16,723,734
Ensembl chr12:11,597,048...11,610,211
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Il6
interleukin 6
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:17617204
RGD:2317166
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Met
MET proto-oncogene, receptor tyrosine kinase
ISO
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:15892172
RGD:2317585
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
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Mgmt
O-6-methylguanine-DNA methyltransferase
severity
ISO
protein:decreased expression:carcinoma of extrahepatic bile duct (human)
RGD
PMID:11986189
RGD:2317662
NCBI chr 1:201,140,832...201,367,481
Ensembl chr 1:191,710,930...191,937,756
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Mki67
marker of proliferation Ki-67
disease_progression
ISO
RGD
PMID:9869516
RGD:2317706
NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762
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Muc16
mucin 16, cell surface associated
ISO
protein:increased expression:serum,bile
RGD
PMID:1657243
RGD:2325134
NCBI chr 8:24,440,840...24,644,494
G
Muc4
mucin 4, cell surface associated
disease_progression
ISO
protein:increased expression:bile duct
RGD
PMID:16857800
RGD:2324929
NCBI chr11:81,513,321...81,575,200
G
Ncam1
neural cell adhesion molecule 1
disease_progression
ISO
RGD
PMID:8501910 PMID:9851639
RGD:2326077 , RGD:2326076
NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:49,865,633...50,166,014
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Runx3
RUNX family transcription factor 3
ISO
DNA:hypermethylation:promoter
RGD
PMID:15471559
RGD:2324957
NCBI chr 5:152,644,270...152,702,835
Ensembl chr 5:147,360,994...147,419,156
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Alb
albumin
disease_progression
ISO
RGD
PMID:20358256
RGD:2325676
NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836
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Ctps1
CTP synthase 1
ISO
mRNA:increased expression:biliary tract neoplasm (human)
RGD
PMID:12819026
RGD:2317903
NCBI chr 5:139,372,349...139,440,441
Ensembl chr 5:134,125,025...134,154,180
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Elf3
E74 like ETS transcription factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr13:49,242,265...49,247,102
Ensembl chr13:46,690,466...46,695,481
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Faslg
Fas ligand
ISO
protein:decreased expression:serum associated with Biliary Tract Disease;protein:decreased expression:serum
RGD
PMID:15138553 PMID:15287856
RGD:2317743 , RGD:2317742
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
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Hgf
hepatocyte growth factor
ISO
mRNA:increased expression: :
RGD
PMID:12819026
RGD:2317903
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
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Il4
interleukin 4
ISO
RGD
PMID:18798553
RGD:2317263
NCBI chr10:38,272,003...38,277,549
Ensembl chr10:37,771,203...37,776,750
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Il6
interleukin 6
ISO
RGD
PMID:18159174
RGD:2317165
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Mdm2
MDM2 proto-oncogene
ISO
protein:increased expression:biliary epithelium (human)
RGD
PMID:16505435
RGD:2317415
NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915
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Mtap
methylthioadenosine phosphorylase
ISO
RGD
PMID:16373701
RGD:2317953
NCBI chr 5:108,990,270...109,036,494
Ensembl chr 5:103,873,020...103,939,406
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Muc1
mucin 1, cell surface associated
ISO
RGD
PMID:19129927
RGD:2317987
NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:174,635,995...174,640,733
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Muc4
mucin 4, cell surface associated
ISO
protein:increased expression:bile,biliary tract
RGD
PMID:18475301
RGD:2324916
NCBI chr11:81,513,321...81,575,200
G
Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
disease_progression
ISO
protein:increased expression:serum
RGD
PMID:18475301
RGD:2324916
NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:196,864,336...196,896,475
G
Prkacb
protein kinase cAMP-activated catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr 2:238,297,140...238,389,317
Ensembl chr 2:235,636,885...235,726,198
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H3f3a
H3.3 histone A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24162739
NCBI chr13:95,065,085...95,076,695
Ensembl chr13:92,533,298...92,544,908
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Birc2
baculoviral IAP repeat-containing 2
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:4,968,842...4,988,732
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Birc3
baculoviral IAP repeat-containing 3
ISO
mRNA:increased expression:perianal skin (human)
RGD
PMID:20346172
RGD:152998971
NCBI chr 8:13,285,702...13,313,329
Ensembl chr 8:5,000,845...5,015,802
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Wnt7b
Wnt family member 7B
ISO
RGD
PMID:8168088
RGD:2291878
NCBI chr 7:118,514,684...118,559,316
Ensembl chr 7:116,634,814...116,679,581
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Akt3
AKT serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Capillary hemangioma
ClinVar
PMID:22729224 PMID:23745724 PMID:24705253 PMID:25741868 PMID:28492532 PMID:28969385 PMID:29286531 PMID:29758562 PMID:33176815 More...
NCBI chr13:91,475,839...91,758,060
Ensembl chr13:88,946,091...89,225,708
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Ccn1
cellular communication network factor 1
disease_progression
ISO
mRNA:increased expression:skin (human)
RGD
PMID:33587560
RGD:329845523
NCBI chr 2:237,222,730...237,225,689
Ensembl chr 2:234,562,408...234,565,484
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Npc1
NPC intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Capillary hemangioma
ClinVar
PMID:25741868
NCBI chr18:3,654,237...3,699,853
Ensembl chr18:3,379,482...3,425,049
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Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome
ClinVar
PMID:9219684 PMID:9536098 PMID:14639529 PMID:15574420 PMID:16199547 PMID:17576681 PMID:18363760 PMID:18446851 PMID:22200646 PMID:23158644 PMID:23164092 PMID:23650393 PMID:23687085 PMID:24038909 PMID:24139535 PMID:24274751 PMID:25040287 PMID:25741868 PMID:26499346 PMID:26969842 PMID:27081547 PMID:27535533 PMID:28295764 PMID:28492532 PMID:28655553 PMID:29024832 PMID:29120072 PMID:29891884 PMID:30026675 PMID:30120215 PMID:31230861 PMID:33248299 PMID:33799089 PMID:35209959 PMID:36980822 More...
NCBI chr 2:17,570,449...17,591,078
Ensembl chr 2:15,834,833...15,855,819
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Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome
ClinVar
PMID:25741868
NCBI chr12:24,963,174...24,988,473
Ensembl chr12:19,326,427...19,351,314
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Rasa1
RAS p21 protein activator 1
susceptibility
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9219684 PMID:9536098 PMID:14639529 PMID:15574420 PMID:16199547 PMID:17576681 PMID:18363760 PMID:18446851 PMID:21626678 PMID:22200646 PMID:23158644 PMID:23164092 PMID:23650393 PMID:23687085 PMID:23801933 PMID:24038909 PMID:24139535 PMID:24274751 PMID:25040287 PMID:25640679 PMID:25741868 PMID:26499346 PMID:26774077 PMID:26969842 PMID:27081547 PMID:27535533 PMID:28295764 PMID:28492532 PMID:28655553 PMID:29024832 PMID:29110021 PMID:29120072 PMID:29171923 PMID:29891884 PMID:30026675 PMID:30120215 PMID:31230861 PMID:33248299 PMID:33799089 PMID:35209959 PMID:36980822 PMID:14639529 More...
RGD:734495
NCBI chr 2:17,593,136...17,676,707
Ensembl chr 2:15,857,980...15,940,854
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Stambp
Stam binding protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23542699
NCBI chr 4:117,613,730...117,642,163
Ensembl chr 4:116,056,057...116,080,543
G
Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
ClinVar
PMID:9219684 PMID:14639529 PMID:15574420 PMID:16199547 PMID:18363760 PMID:18446851 PMID:23164092 PMID:24038909 PMID:25040287 PMID:25741868 PMID:26499346 PMID:27081547 PMID:27535533 PMID:28492532 PMID:28655553 PMID:29891884 PMID:33248299 PMID:33461977 PMID:36980822 PMID:37767822 More...
NCBI chr 2:17,570,449...17,591,078
Ensembl chr 2:15,834,833...15,855,819
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
ClinVar
PMID:1875403 PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17332249 PMID:17704260 PMID:17910045 PMID:19047918 PMID:19358724 PMID:20805368 PMID:20949522 PMID:21079152 PMID:22499344 PMID:22683711 PMID:23096712 PMID:23174937 PMID:23255105 PMID:24629489 PMID:25623042 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26521233 PMID:26861459 PMID:28492532 PMID:29298116 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31891627 PMID:34114335 PMID:35794233 More...
NCBI chr 4:179,916,255...179,949,613
G
Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
ClinVar
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
G
Rasa1
RAS p21 protein activator 1
ISO
ClinVar Annotator: match by term: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 1 | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1
OMIM ClinVar
PMID:9219684 PMID:14639529 PMID:15574420 PMID:16199547 PMID:18363760 PMID:18446851 PMID:22200646 PMID:23164092 PMID:23801933 PMID:24038909 PMID:25040287 PMID:25741868 PMID:26499346 PMID:27081547 PMID:27535533 PMID:28492532 PMID:28655553 PMID:29171923 PMID:29891884 PMID:33248299 PMID:33461977 PMID:36980822 PMID:37767822 More...
NCBI chr 2:17,593,136...17,676,707
Ensembl chr 2:15,857,980...15,940,854
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Ephb4
EPH receptor B4
ISO
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
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21348050 PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:28730721 PMID:29444212 PMID:29905864 PMID:30578106 PMID:30760892 PMID:30819650 PMID:32267001 PMID:33240318 PMID:36813543 PMID:38353959 More...
NCBI chr12:24,963,174...24,988,473
Ensembl chr12:19,326,427...19,351,314
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Slc12a9
solute carrier family 12, member 9
ISO
ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 2
ClinVar
PMID:25741868 PMID:28492532 PMID:28687708
NCBI chr12:25,005,741...25,022,628
Ensembl chr12:19,369,004...19,385,877
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA
ClinVar
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25525159 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26689913 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30068732 PMID:30877234 PMID:31368675 PMID:31589614 PMID:31827275 PMID:32581362 PMID:32782288 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 PMID:35441217 More...
NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
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Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA
ClinVar
PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:24623741 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:28873162 PMID:29386252 PMID:30050099 PMID:30201732 PMID:31308404 PMID:32782288 PMID:34308366 PMID:34906457 PMID:36786389 More...
NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293
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Sdhc
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Carney triad | ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA
ClinVar
PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532 More...
NCBI chr13:86,077,133...86,098,025
Ensembl chr13:83,544,652...83,566,253
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Alg9
ALG9, alpha-1,2-mannosyltransferase
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:60,013,429...60,085,159
Ensembl chr 8:51,119,365...51,182,261
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Btg4
BTG anti-proliferation factor 4
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:60,307,090...60,322,167
Ensembl chr 8:51,422,061...51,425,796
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C8h11orf52
similar to human chromosome 11 open reading frame 52
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:59,977,717...59,984,706
Ensembl chr 8:51,081,342...51,094,533
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Cfap68
cilia and flagella associated protein 68
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:60,004,034...60,009,782
Ensembl chr 8:51,107,721...51,113,420
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Cryab
crystallin, alpha B
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:51,093,441...51,099,157
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Dixdc1
DIX domain containing 1
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:59,904,218...59,977,595
Ensembl chr 8:51,007,838...51,081,090
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Dlat
dihydrolipoamide S-acetyltransferase
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:59,875,537...59,900,947
Ensembl chr 8:50,978,051...51,004,479 Ensembl chr 1:50,978,051...51,004,479
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Fdxacb1
ferredoxin-fold anticodon binding domain containing 1
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:60,009,818...60,014,625
Ensembl chr 8:51,113,397...51,118,308
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Hoatz
HOATZ cilia and flagella associated protein
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:60,284,745...60,306,687
Ensembl chr 8:51,388,382...51,412,514
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Hspb2
heat shock protein family B (small) member 2
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:59,989,640...59,991,215
Ensembl chr 8:51,081,342...51,094,533
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Layn
layilin
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:60,261,325...60,280,797
Ensembl chr 8:51,367,091...51,384,330
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Mir34b
microRNA 34b
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:60,306,609...60,306,692
Ensembl chr 8:51,410,244...51,410,327
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Mir34c
microRNA 34c
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:60,306,091...60,306,167
Ensembl chr 8:51,409,726...51,409,802
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Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor
ClinVar
PMID:12807974 PMID:17468193 PMID:23342407 PMID:25741868 PMID:28492532
NCBI chr13:86,103,290...86,109,156
Ensembl chr13:83,570,811...83,576,679
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Nkapd1
NKAP domain containing 1
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:59,852,037...59,863,295
Ensembl chr 8:50,955,654...50,966,830
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Pih1d2
PIH1 domain containing 2
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:59,863,271...59,871,465
Ensembl chr 8:50,966,885...50,975,656
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Pou2af1
POU class 2 homeobox associating factor 1
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:60,418,173...60,445,176
Ensembl chr 8:51,474,015...51,548,819
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Pou2af3
POU class 2 homeobox associating factor 3
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:60,484,596...60,493,475
Ensembl chr 8:51,588,237...51,603,855
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Ppp2r1b
protein phosphatase 2 scaffold subunit A beta
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:60,092,540...60,125,512
Ensembl chr 8:51,186,717...51,228,485
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Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:490809 PMID:9509062 PMID:11404820 PMID:11897817 PMID:12000816 PMID:12362046 PMID:12364472 PMID:12618761 PMID:14500403 PMID:14715873 PMID:14974914 PMID:14985401 PMID:15328326 PMID:15383933 PMID:15987702 PMID:16199547 PMID:16288654 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16472267 PMID:16912137 PMID:16916404 PMID:17102082 PMID:17102083 PMID:17200167 PMID:17298551 PMID:17376234 PMID:17487275 PMID:17538171 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17884808 PMID:17943698 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18502330 PMID:18551016 PMID:18678321 PMID:18728283 PMID:18840642 PMID:19001511 PMID:19153209 PMID:19189136 PMID:19215943 PMID:19258401 PMID:19351833 PMID:19368708 PMID:19393419 PMID:19399650 PMID:19411806 PMID:19454582 PMID:19522823 PMID:19576851 PMID:19694205 PMID:19768395 PMID:19802898 PMID:19825962 PMID:19927285 PMID:20208144 PMID:20213850 PMID:20418362 PMID:20459544 PMID:20503330 PMID:20540712 PMID:20583550 PMID:20592014 PMID:20614293 PMID:20923864 PMID:20981092 PMID:21348866 PMID:21565294 PMID:21820839 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22270996 PMID:22517554 PMID:22517557 PMID:22584711 PMID:22677546 PMID:22703879 PMID:22835832 PMID:22904323 PMID:22938532 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23512077 PMID:23660872 PMID:23666964 PMID:24033266 PMID:24055113 PMID:24092654 PMID:24102379 PMID:24466223 PMID:24509376 PMID:24606901 PMID:24623741 PMID:24659481 PMID:24728327 PMID:24735130 PMID:24939699 PMID:25047027 PMID:25298897 PMID:25326637 PMID:25333069 PMID:25371406 PMID:25376524 PMID:25637381 PMID:25683602 PMID:25694510 PMID:25695889 PMID:25741868 PMID:25972245 PMID:26071763 PMID:26092435 PMID:26173966 PMID:26182300 PMID:26198225 PMID:26236513 PMID:26259135 PMID:26269449 PMID:26283294 PMID:26332594 PMID:26467025 PMID:26556299 PMID:26642834 PMID:26719882 PMID:26916530 PMID:27011036 PMID:27171833 PMID:27279923 PMID:27539324 PMID:27542510 PMID:27573198 PMID:27604842 PMID:27785149 PMID:27867439 PMID:28070496 PMID:28152038 PMID:28324028 PMID:28349240 PMID:28374168 PMID:28490599 PMID:28492532 PMID:28503760 PMID:28738844 PMID:28819017 PMID:28873162 PMID:28973655 PMID:29386252 PMID:29504908 PMID:29510530 PMID:29684080 PMID:29909963 PMID:29951630 PMID:30050099 PMID:30087776 PMID:30152102 PMID:30201732 PMID:30352407 PMID:30877234 PMID:31308404 PMID:31365623 PMID:31492822 PMID:31666924 PMID:31705439 PMID:31780696 PMID:32460727 PMID:32688340 PMID:32741965 PMID:32782288 PMID:32859697 PMID:32963463 PMID:33300499 PMID:33362715 PMID:33628464 PMID:34118692 PMID:34308366 PMID:34326862 PMID:34426522 PMID:34439168 PMID:34439371 PMID:34452955 PMID:34466344 PMID:34654328 PMID:34906457 PMID:35441217 PMID:35957908 PMID:36786389 PMID:37840772 More...
NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293
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Sdhc
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:12658451 PMID:12807974 PMID:17468193 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17898811 PMID:19351833 PMID:19454582 PMID:19546167 PMID:21106325 PMID:21173220 PMID:22703879 PMID:22868853 PMID:23083876 PMID:23282968 PMID:23342407 PMID:24033266 PMID:24402737 PMID:24423348 PMID:24523625 PMID:24758179 PMID:24781345 PMID:25024072 PMID:25741868 PMID:26173966 PMID:26273102 PMID:26467025 PMID:27279923 PMID:27700540 PMID:28412079 PMID:28492532 PMID:28819017 PMID:29878124 PMID:30050099 PMID:30548481 PMID:30583724 PMID:31194233 PMID:33748650 PMID:34558728 PMID:34750850 PMID:35441217 More...
NCBI chr13:86,077,133...86,098,025
Ensembl chr13:83,544,652...83,566,253
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Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastric stromal sarcoma | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11605159 PMID:11897812 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12114404 PMID:12218630 PMID:12364472 PMID:12386824 PMID:12509798 PMID:12696072 PMID:12782822 PMID:12807974 PMID:12811540 PMID:14557476 PMID:14974914 PMID:14985401 PMID:15032977 PMID:15066320 PMID:15235042 PMID:15328326 PMID:15331017 PMID:15479192 PMID:15531530 PMID:15623805 PMID:15774781 PMID:15905695 PMID:15989954 PMID:16061558 PMID:16080474 PMID:16199547 PMID:16314641 PMID:16317055 PMID:17041923 PMID:17102082 PMID:17102085 PMID:17208193 PMID:17308434 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17973943 PMID:18211978 PMID:18213727 PMID:18414213 PMID:18551016 PMID:18561749 PMID:18678321 PMID:18692411 PMID:18826997 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19393419 PMID:19454582 PMID:19550080 PMID:19584903 PMID:19802898 PMID:19825962 PMID:19936639 PMID:20098451 PMID:20111059 PMID:20208144 PMID:20301715 PMID:20418362 PMID:20842377 PMID:21318381 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22025150 PMID:22041456 PMID:22138625 PMID:22170724 PMID:22241717 PMID:22290790 PMID:22382802 PMID:22456618 PMID:22517554 PMID:22517557 PMID:22566157 PMID:22566194 PMID:22575350 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23433498 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24134185 PMID:24367056 PMID:24436918 PMID:24728327 PMID:24735130 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25058219 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25328978 PMID:25376524 PMID:25494863 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25741136 PMID:25741868 PMID:25758995 PMID:25791839 PMID:25819804 PMID:25985138 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26273102 PMID:26467025 PMID:27073498 PMID:27153395 PMID:27279923 PMID:27539324 PMID:27634942 PMID:27700540 PMID:27785149 PMID:27856506 PMID:27867439 PMID:27913608 PMID:27986441 PMID:28128698 PMID:28164237 PMID:28179334 PMID:28492532 PMID:28552549 PMID:28748451 PMID:28873162 PMID:28975465 PMID:28977582 PMID:29386252 PMID:29504908 PMID:29510530 PMID:29545045 PMID:29625052 PMID:29681642 PMID:29777207 PMID:29792313 PMID:29875428 PMID:29925701 PMID:30050099 PMID:30093976 PMID:30172768 PMID:30273935 PMID:30375904 PMID:30484866 PMID:30548481 PMID:30877234 PMID:30951038 PMID:31104306 PMID:31194233 PMID:31212687 PMID:31492822 PMID:31508186 PMID:31666924 PMID:31834447 PMID:32035780 PMID:32098148 PMID:32472550 PMID:32561571 PMID:32659967 PMID:32741965 PMID:32948182 PMID:32948195 PMID:32971818 PMID:33219105 PMID:33362715 PMID:33391357 PMID:33397040 PMID:33745191 PMID:33748650 PMID:34012134 PMID:34072806 PMID:34439168 PMID:34750850 PMID:34877445 PMID:34906457 PMID:34907111 PMID:35060925 PMID:35460558 PMID:35626065 PMID:35668420 PMID:35739269 PMID:35938916 PMID:35966080 PMID:36614070 PMID:38144572 More...
NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:50,944,704...50,954,238
G
Sik2
salt-inducible kinase 2
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:60,121,913...60,221,707
Ensembl chr 8:51,225,543...51,325,415
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Timm8b
translocase of inner mitochondrial membrane 8 homolog B
ISO
ClinVar Annotator: match by term: Carney-Stratakis syndrome
ClinVar
PMID:15531530 PMID:19351833 PMID:19454582 PMID:19802898 PMID:22241717 PMID:28492532 More...
NCBI chr 8:59,850,737...59,852,117
Ensembl chr 8:50,954,342...50,955,729
G
Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
ClinVar Annotator: match by term: Carotid body tumor
ClinVar
PMID:18728283 PMID:19576851 PMID:22835832 PMID:24055113 PMID:24092654 PMID:25637381 PMID:25741868 PMID:26332594 PMID:26467025 PMID:28374168 PMID:28492532 PMID:30050099 PMID:34906457 More...
NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293
G
Ccm2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Cavernous hemangioma
ClinVar
PMID:25741868
NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
G
Krit1
KRIT1, ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Cavernous hemangioma
ClinVar
PMID:10508515 PMID:10545614 PMID:11222804 PMID:12404106 PMID:23595507 PMID:24466005 PMID:24689081 PMID:25741868 PMID:28492532 More...
NCBI chr 4:31,253,918...31,288,066
Ensembl chr 4:30,299,203...30,333,359
G
Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cavernous hemangioma
ClinVar
PMID:9536098 PMID:16329096 PMID:17576681 PMID:24466005 PMID:25122144 PMID:25741868 PMID:28492532 More...
NCBI chr 2:162,602,516...162,644,690
Ensembl chr 2:160,303,449...160,346,018
G
Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Cerebral venous angioma
ClinVar
PMID:23650393 PMID:25741868 PMID:31680349
NCBI chr 2:17,570,449...17,591,078
Ensembl chr 2:15,834,833...15,855,819
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Rasa1
RAS p21 protein activator 1
ISO
ClinVar Annotator: match by term: Cerebral venous angioma
ClinVar
PMID:23650393 PMID:25741868 PMID:31680349
NCBI chr 2:17,593,136...17,676,707
Ensembl chr 2:15,857,980...15,940,854
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Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Cerebellar hemangioblastoma
ClinVar
PMID:7728151 PMID:7987306 PMID:10567493 PMID:12114495 PMID:15611064 PMID:18423895 PMID:22799452 PMID:23384228 PMID:25741868 PMID:28492532 PMID:31620170 PMID:35319492 More...
NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
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Akap9
A-kinase anchoring protein 9
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:30,056,738...30,192,606
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Ankib1
ankyrin repeat and IBR domain containing 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:25741868
NCBI chr 4:31,288,393...31,412,500
Ensembl chr 4:30,333,677...30,457,781
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Ccm2
CCM2 scaffold protein
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Cerebral cavernous malformation
CTD ClinVar
PMID:18154020 PMID:25525273 PMID:25741868 PMID:28492532
NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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Cyp51
cytochrome P450, family 51
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
NCBI chr 4:30,991,693...31,010,147
Ensembl chr 4:30,036,865...30,055,410 Ensembl chr 6:30,036,865...30,055,410
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Flt1
Fms related receptor tyrosine kinase 1
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:endothelial cell:
RGD
PMID:11220380
RGD:8551824
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Krit1
KRIT1, ankyrin repeat containing
susceptibility
ISO ISS
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 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:3393196 PMID:7898703 PMID:9065560 PMID:9536098 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11941540 PMID:11959162 PMID:12404106 PMID:12810002 PMID:12854741 PMID:12882686 PMID:14755725 PMID:15079030 PMID:16199547 PMID:16321204 PMID:16571644 PMID:17187287 PMID:17211633 PMID:17277691 PMID:17345049 PMID:17440989 PMID:17562932 PMID:17576681 PMID:18060436 PMID:18300272 PMID:18380023 PMID:18383588 PMID:19088123 PMID:19099113 PMID:19454328 PMID:19763152 PMID:20301470 PMID:20306072 PMID:20307669 PMID:20419355 PMID:20798775 PMID:21029238 PMID:22406018 PMID:23584803 PMID:23595507 PMID:23828392 PMID:24007869 PMID:24401931 PMID:24466005 PMID:24689081 PMID:24721395 PMID:25413039 PMID:25525159 PMID:25525273 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26682556 PMID:27766163 PMID:27790124 PMID:27792856 PMID:28000143 PMID:28492532 PMID:28645800 PMID:28745674 PMID:28867399 PMID:29593473 PMID:30161288 PMID:31124307 PMID:31254430 PMID:32434131 PMID:33136154 PMID:33651268 PMID:33891857 PMID:33911302 PMID:34556564 PMID:34558799 PMID:34634677 PMID:34964173 PMID:36580209 PMID:36629374 PMID:14755725 PMID:15079030 More...
RGD:1358458 , RGD:1598379
NCBI chr 4:31,253,918...31,288,066
Ensembl chr 4:30,299,203...30,333,359
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Lrrd1
leucine-rich repeats and death domain containing 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
NCBI chr 4:30,263,147...30,293,119
Ensembl chr 4:30,264,862...30,293,173
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Mterf1
mitochondrial transcription termination factor 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:10508515 PMID:11222804 PMID:12404106 PMID:17187287 PMID:17211633 PMID:20798775 PMID:24689081 PMID:28492532 More...
NCBI chr 4:30,226,345...30,233,402
Ensembl chr 4:30,226,343...30,233,584
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Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,133,706...11,184,025
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Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:15543491 PMID:18035376 PMID:18300272 PMID:23485406 PMID:23595507 PMID:23801932 PMID:25741868 PMID:26896283 PMID:28492532 More...
NCBI chr 2:162,602,516...162,644,690
Ensembl chr 2:160,303,449...160,346,018
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Pon1
paraoxonase 1
susceptibility
ISO
DNA:missense mutations:cds:p.L55M, p.Q192R (human)
RGD
PMID:26122242
RGD:11552573
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
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Pten
phosphatase and tensin homolog
ISO
protein:decreased expression:brain (human)
RGD
PMID:19061355
RGD:12859036
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Serpini1
serpin family I member 1
ISO
ClinVar Annotator: match by term: Cavernous Hemangioma of Brain | ClinVar Annotator: match by term: Cerebral cavernous malformation
ClinVar
PMID:25741868
NCBI chr 2:162,645,209...162,731,737
Ensembl chr 2:160,346,758...160,433,135
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Krit1
KRIT1, ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 1 | ClinVar Annotator: match by term: KRIT1-Related Disorders | ClinVar Annotator: match by term: KRIT1-related condition
OMIM ClinVar
PMID:3393196 PMID:7898703 PMID:9065560 PMID:10508515 PMID:10545614 PMID:10814716 PMID:11161805 PMID:11222804 PMID:11914398 PMID:11941540 PMID:12404106 PMID:12810002 PMID:12854741 PMID:14755725 PMID:16571644 PMID:17562932 PMID:19088123 PMID:19454328 PMID:20301470 PMID:23595507 PMID:24007869 PMID:24401931 PMID:24689081 PMID:24721395 PMID:25525159 PMID:25525273 PMID:25741868 PMID:26467025 PMID:26682556 PMID:28492532 PMID:28645800 PMID:28867399 PMID:29593473 PMID:30161288 PMID:31254430 PMID:33911302 PMID:34634677 PMID:34964173 More...
NCBI chr 4:31,253,918...31,288,066
Ensembl chr 4:30,299,203...30,333,359
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Pdcd10
programmed cell death 10
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 1
ClinVar
PMID:25741868
NCBI chr 2:162,602,516...162,644,690
Ensembl chr 2:160,303,449...160,346,018
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Ptgis
prostaglandin I2 synthase
exacerbates
ISO
DNA:silent mutation:CDS:p.L256L (rs5628) (human)
RGD
PMID:26795600
RGD:401960081
NCBI chr 3:176,347,589...176,383,251
Ensembl chr 3:155,916,412...155,965,451
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Ccm2
CCM2 scaffold protein
ISO ISS
ClinVar Annotator: match by term: CCM2-related condition | ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM:603284 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 PMID:17160895 PMID:17277691 PMID:17576681 PMID:18060436 PMID:18300272 PMID:19088123 PMID:19088124 PMID:19475721 PMID:20419355 PMID:23595507 PMID:24466005 PMID:24689081 PMID:25525273 PMID:25741868 PMID:26467025 PMID:27153162 PMID:27561926 PMID:27792856 PMID:28492532 PMID:28655553 PMID:29758562 PMID:30161288 PMID:31824402 PMID:31937560 PMID:32860008 PMID:34357553 PMID:35307828 More...
NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
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Nacad
NAC alpha domain containing
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 2
ClinVar
PMID:17160895 PMID:28492532
NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781
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Pdcd10
programmed cell death 10
onset exacerbates
ISO ISS
ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3 DNA:deletion:CDS:c.506delA (human) DNA:mutations:multiple (human) DNA:SNPs:promoter: (rs9853967, rs11714980) (human) DNA:nonsense mutation, frameshift mutations:CDS:multiple (human) DNA:mutations:SNPs, duplications, deletions:multiple (human) DNA:deletions, nonsense mutations:multiple (human) OMIM:603285 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 PMID:17576681 PMID:18035376 PMID:18060436 PMID:18300272 PMID:20623299 PMID:23485406 PMID:23595507 PMID:23801932 PMID:24466005 PMID:24689081 PMID:25122144 PMID:25354366 PMID:25640679 PMID:25741868 PMID:26246098 PMID:26467025 PMID:26896283 PMID:27153162 PMID:28492532 PMID:28645800 PMID:30161288 PMID:34597987 PMID:17041941 PMID:25122144 PMID:27737651 PMID:16284570 PMID:25354366 PMID:15543491 More...
RGD:401827173 , RGD:401827115 , RGD:401827114 , RGD:401827108 , RGD:401827103 , RGD:401827102 , RGD:329961304
NCBI chr 2:162,602,516...162,644,690
Ensembl chr 2:160,303,449...160,346,018
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Serpini1
serpin family I member 1
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 3
ClinVar
PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532
NCBI chr 2:162,645,209...162,731,737
Ensembl chr 2:160,346,758...160,433,135
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Cerebral cavernous malformation 4 | ClinVar Annotator: match by term: Cerebral cavernous malformations 4
OMIM ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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Map3k3
mitogen activated protein kinase kinase kinase 3
ISO
ClinVar Annotator: match by term: CEREBRAL CAVERNOUS MALFORMATIONS 5 | ClinVar Annotator: match by term: CEREBRAL CAVERNOUS MALFORMATIONS 5, SOMATIC
OMIM ClinVar
PMID:25741868 PMID:33729480 PMID:33891857
NCBI chr10:91,519,976...91,588,651
Ensembl chr10:91,020,174...91,088,848
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Gna14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Cerebrofacial arteriovenous metameric syndrome
ClinVar
NCBI chr 1:223,141,802...223,324,210
Ensembl chr 1:213,716,020...213,897,423
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Mapk1
mitogen activated protein kinase 1
ISO
protein:increased expression:brain:
RGD
PMID:21466243
RGD:13702864
NCBI chr11:97,462,025...97,529,193
Ensembl chr11:83,957,813...84,023,616
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Abcc2
ATP binding cassette subfamily C member 2
susceptibility
ISO
DNA:polymorphism:exon:c.3972C>T (human)
RGD
PMID:19451719
RGD:2317508
NCBI chr 1:252,613,875...252,672,459
Ensembl chr 1:242,664,657...242,723,238
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Adrb2
adrenoceptor beta 2
ISO
protein:decreased expression:liver
RGD
PMID:16292515
RGD:2325640
NCBI chr18:57,912,760...57,914,802
Ensembl chr18:55,502,903...55,644,512
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Alb
albumin
disease_progression
ISO
RGD
PMID:10776430 PMID:17545000 PMID:20431764
RGD:2325682 , RGD:2325680 , RGD:2325679
NCBI chr14:17,891,564...17,907,043
Ensembl chr14:17,607,381...17,622,836
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Alox5
arachidonate 5-lipoxygenase
ISO
protein:increased expression:bile duct
RGD
PMID:18507031
RGD:2317521
NCBI chr 4:151,203,948...151,251,126
Ensembl chr 4:149,531,515...149,578,743
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Anxa2
annexin A2
disease_progression
ISO
RGD
PMID:20493868
RGD:2325728
NCBI chr 8:78,986,252...79,022,638
Ensembl chr 8:70,105,253...70,141,658
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Anxa8
annexin A8
ISO
RGD
PMID:19376120
RGD:2325733
NCBI chr16:9,397,144...9,412,072
Ensembl chr16:9,397,113...9,412,043
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Apc
APC regulator of WNT signaling pathway
ISO
DNA:hypermethylation:promoter DNA:loss of heterozygosity
RGD
PMID:15467712 PMID:10212000
RGD:2317198 , RGD:2317205
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Apoa1
apolipoprotein A1
ISO
protein:decreased expression:serum
RGD
PMID:19486127
RGD:2325756
NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564
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Asph
aspartate-beta-hydroxylase
ISO
RGD
PMID:21898484
RGD:6902945
NCBI chr 5:27,398,933...27,611,519
Ensembl chr 5:22,603,486...22,813,876
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Atg101
autophagy related 101
disease_progression
ISO
RGD
PMID:35592424
RGD:153350091
NCBI chr 7:134,277,223...134,286,387
Ensembl chr 7:132,398,483...132,407,633
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Bap1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509 PMID:25231345
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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Birc6
baculoviral IAP repeat-containing 6
ameliorates
ISO
mRNA:increased expression:bile duct (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 6:26,474,843...26,668,275
Ensembl chr 6:20,722,922...20,916,434
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Braf
B-Raf proto-oncogene, serine/threonine kinase
IAGP
DNA:missense mutation:cds:p.V600E (human)
RGD
PMID:12692057
RGD:11073239
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
onset
ISO
protein:decreased expression:liver
RGD
PMID:15619210
RGD:2317417
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Cxcr1
C-X-C motif chemokine receptor 1
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr 9:83,216,040...83,220,225
Ensembl chr 9:75,766,770...75,771,084
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Cycs
cytochrome c, somatic
ISO
RGD
PMID:19788692
RGD:2317615
NCBI chr 4:80,982,667...80,984,767
Ensembl chr 4:79,651,378...79,654,054 Ensembl chr18:79,651,378...79,654,054
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
ISO
protein:increased expression:intrahepatic bile, extrahepatic bile duct (human)
RGD
PMID:23375797
RGD:151361187
NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:159,275,947...159,290,383
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Egf
epidermal growth factor
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579 PMID:25741868 PMID:28492532
NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:218,219,415...218,302,064
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: therapeutic ClinVar Annotator: match by term: Cholangiocarcinoma
CTD ClinVar
PMID:17341899 PMID:18550579 PMID:24728327 PMID:25741868 PMID:28492532
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Epo
erythropoietin
IEP
mRNA, protein:increased expression:liver
RGD
PMID:23052842
RGD:10400912
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
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Epor
erythropoietin receptor
IEP
mRNA, protein:increased expression:liver
RGD
PMID:23052842
RGD:10400912
NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:20,489,678...20,494,257
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Erbb2
erb-b2 receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16818635
NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,411,313...83,435,078
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression no_association
ISO
DNA:SNP: :g.148505302C>T (rs887569) (human) DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human)
RGD
PMID:24179546 PMID:24179546
RGD:126779604 , RGD:126779604
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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Faslg
Fas ligand
ISO
RGD
PMID:11029528
RGD:2317746
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
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Fgf2
fibroblast growth factor 2
ISO
protein:increased expression:bile
RGD
PMID:11478488
RGD:2317765
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
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Fgfr2
fibroblast growth factor receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626
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Fscn1
fascin actin-bundling protein 1
disease_progression
ISO
protein:increased expression:bile ducts
RGD
PMID:19721413
RGD:2317780
NCBI chr12:16,710,601...16,723,734
Ensembl chr12:11,597,048...11,610,211
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Gnas
GNAS complex locus
disease_progression
ISO
DNA:polymorphism:393T>C (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:22561520 PMID:17356712
RGD:1601377
NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
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Gstm1
glutathione S-transferase mu 1
ISO
RGD
PMID:24049014
RGD:14700980
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
treatment
ISO
DNA:hypermethylation:promoter human cell line in a mouse model
RGD
PMID:15467712 PMID:12805482
RGD:2317198 , RGD:14401711
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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Hdac6
histone deacetylase 6
ISO
protein:increased expression:liver:
RGD
PMID:23370327
RGD:9681560
NCBI chr X:17,222,538...17,244,373
Ensembl chr X:14,551,044...14,572,441
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Hgf
hepatocyte growth factor
IEP ISO
mRNA, protein:increased expression: : protein:increased expression:serum
RGD
PMID:10827151 PMID:16974053
RGD:2317925 , RGD:2317909
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
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Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:12919954 PMID:18550579 PMID:22647679 PMID:24120591 PMID:25741868
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025
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Il10
interleukin 10
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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Il19
interleukin 19
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:11121048 PMID:14657422 PMID:14657427 PMID:18550579 PMID:25741868 PMID:28492532 More...
NCBI chr13:44,949,989...44,958,714
Ensembl chr13:42,399,138...42,405,473
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Il1b
interleukin 1 beta
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
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Il1r2
interleukin 1 receptor type 2
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 9:49,879,928...49,920,374
Ensembl chr 9:42,384,433...42,424,725
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Il4r
interleukin 4 receptor
ISO
mRNA:increased expression:bile duct
RGD
PMID:18798553
RGD:2317263
NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980
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Il6
interleukin 6
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma protein:increased expression:serum CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:9769329 PMID:10720087 PMID:11001912 PMID:11889177 PMID:12519862 PMID:12560873 PMID:12719374 PMID:15070960 PMID:15331795 PMID:15472205 PMID:16150725 PMID:16278864 PMID:17621267 PMID:17623760 PMID:18550579 PMID:15011822 PMID:28925763 More...
RGD:2317167 , RGD:14975292
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
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Ins2
insulin 2
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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Kcnd2
potassium voltage-gated channel subfamily D member 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34418280
NCBI chr 4:50,741,595...51,243,540
Ensembl chr 4:49,776,246...50,277,728
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Kit
KIT proto-oncogene receptor tyrosine kinase
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
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Kmt2c
lysine methyltransferase 2C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539
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Kras
KRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8968066 PMID:22561520
NCBI chr 4:179,916,255...179,949,613
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Krt7
keratin 7
ISO
RGD
PMID:18393293
RGD:2317308
NCBI chr 7:134,407,626...134,423,787
Ensembl chr 7:132,528,895...132,545,052
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Mdm2
MDM2 proto-oncogene
disease_progression
ISO
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:15619210
RGD:2317417
NCBI chr 7:55,176,558...55,201,757
Ensembl chr 7:53,290,664...53,314,915
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Met
MET proto-oncogene, receptor tyrosine kinase
disease_progression
IEP ISO
protein:increased expression:liver, biliary epithelium (rat) protein:increased phosphorylation:liver, carcinoma (human)
RGD
PMID:14656942 PMID:16818635
RGD:2317601 , RGD:2317578
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
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Mfsd4a
major facilitator superfamily domain containing 4A
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr13:46,015,321...46,062,633
Ensembl chr13:43,469,488...43,510,467
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Mgmt
O-6-methylguanine-DNA methyltransferase
ISO
DNA:hypermethylation:promoter (human)
RGD
PMID:17550320
RGD:2317632
NCBI chr 1:201,140,832...201,367,481
Ensembl chr 1:191,710,930...191,937,756
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Mir155
microRNA 155
ISO
miRNA:increased expression:serum
RGD
PMID:30653586
RGD:21081530
NCBI chr11:37,261,114...37,261,178
Ensembl chr11:23,774,654...23,774,718
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Mir192
microRNA 192
ISO
RNA:increased expression:urine
RGD
PMID:26456596
RGD:41404678
NCBI chr 1:203,564,946...203,565,055
Ensembl chr 1:203,564,946...203,565,055
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Mir21
microRNA 21
ISO
RNA:increased expression:urine
RGD
PMID:26456596
RGD:41404678
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
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Mir23b
microRNA 23b
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34418280
NCBI chr17:1,819,386...1,819,482
Ensembl chr17:1,813,667...1,813,763
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Mir494
microRNA 494
severity exacerbates
ISO
RGD
PMID:30314946 PMID:30314946
RGD:156420141 , RGD:156420141
NCBI chr 6:134,550,115...134,550,197
Ensembl chr 6:128,728,709...128,728,793
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Mki67
marker of proliferation Ki-67
disease_progression
ISO
RGD
PMID:12903495
RGD:2317705
NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762
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Mmp2
matrix metallopeptidase 2
disease_progression
IEP ISO
protein:increased expression:bile duct
RGD
PMID:15213623 PMID:19629755
RGD:2324667 , RGD:2325769
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
ISO IEP
mRNA:increased expression:bile duct protein:increased expression:bile duct
RGD
PMID:16463672 PMID:15213623 PMID:15213623
RGD:2325856 , RGD:2324667 , RGD:2324667
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Msln
mesothelin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:14576474
NCBI chr10:15,276,489...15,285,921
Ensembl chr10:14,771,961...14,777,643
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Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:polymorphism (human)
RGD
PMID:17201138
RGD:2317119
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Muc1
mucin 1, cell surface associated
disease_progression
ISO IEP
protein:increased secretion:bile protein:increased expression:serum protein:increased expression:bile duct: mRNA:increased expression:bile duct
RGD
PMID:19055478 PMID:19260467 PMID:15213623 PMID:18081149 PMID:19639217
RGD:2324622 , RGD:2324664 , RGD:2324667 , RGD:2324638 , RGD:2317986
NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:174,635,995...174,640,733
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Muc16
mucin 16, cell surface associated
ISO
associated with Opisthorchiasis;protein:increased expression:serum
RGD
PMID:1653472
RGD:2325142
NCBI chr 8:24,440,840...24,644,494
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Muc17
mucin 17, cell surface associated
ISO
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr12:25,139,076...25,175,249
Ensembl chr12:19,527,321...19,538,522
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr 1:206,225,775...206,261,280
Ensembl chr 1:196,799,517...196,831,756
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Muc3a
mucin 3A, cell surface associated
ISO
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr12:19,450,679...19,454,753
Ensembl chr12:19,446,094...19,460,522
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Muc4
mucin 4, cell surface associated
disease_progression
ISO IEP
protein:increased expression:bile duct
RGD
PMID:14752841 PMID:19082442
RGD:2324944 , RGD:2303602
NCBI chr11:81,513,321...81,575,200
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
disease_progression
ISO
protein:increased expression:serum mRNA:increased expression:bile duct
RGD
PMID:14508831 PMID:11680592
RGD:2324990 , RGD:2324948
NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:196,864,336...196,896,475
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Muc5b
mucin 5B, oligomeric mucus/gel-forming
ISO
mRNA:decreased expression:bile duct
RGD
PMID:11680592
RGD:2324948
NCBI chr 1:206,346,400...206,378,367
Ensembl chr 1:196,916,825...196,949,250
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Muc6
mucin 6, oligomeric mucus/gel-forming
ISO
protein:increased expression: :
RGD
PMID:10209489
RGD:2325167
NCBI chr 1:206,155,826...206,194,384
Ensembl chr 1:196,726,807...196,764,842
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Nat2
N-acetyltransferase 2
ISO
DNA:polymorphisms (human)
RGD
PMID:15901993
RGD:2317172
NCBI chr16:26,974,874...27,005,191
Ensembl chr16:22,208,194...22,238,520
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Ncam1
neural cell adhesion molecule 1
ISO
associated with hepatitis
RGD
PMID:12031086
RGD:2326079
NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:49,865,633...50,166,014
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Nos2
nitric oxide synthase 2
ISO
protein:increased expression:bile duct CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16818635 PMID:16094703
RGD:2325280
NCBI chr10:64,313,335...64,349,221
Ensembl chr10:63,815,308...63,851,210
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Notch1
notch receptor 1
ISO
protein:increased expression:cholangiocyte
RGD
PMID:15887117
RGD:2325330
NCBI chr 3:29,676,040...29,721,613
Ensembl chr 3:9,278,086...9,323,531
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Nr1h4
nuclear receptor subfamily 1, group H, member 4
disease_progression
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:24255171
RGD:15090822
NCBI chr 7:25,733,471...25,829,440
Ensembl chr 7:23,846,122...23,942,047
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Ogg1
8-oxoguanine DNA glycosylase
disease_progression
ISO
DNA:loss of heterozygosity (human)
RGD
PMID:11866974 PMID:11260864
RGD:2317134 , RGD:2317136
NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766
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Osbp2
oxysterol binding protein 2
ISO
mRNA:increased expression:blood
RGD
PMID:21763455
RGD:41404644
NCBI chr14:82,808,693...82,970,386
Ensembl chr14:78,585,089...78,746,786
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Osbpl7
oxysterol binding protein-like 7
ISO
mRNA:increased expression:blood
RGD
PMID:21763455
RGD:41404644
NCBI chr10:82,532,335...82,549,999
Ensembl chr10:82,036,042...82,053,557
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Panx2
pannexin 2
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 7:122,018,937...122,032,009
Ensembl chr 7:120,139,294...120,152,361
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Pawr
pro-apoptotic WT1 regulator
ISO
mRNA,protein:decreased expression:cholangiocyte:
RGD
PMID:20724592
RGD:9835357
NCBI chr 7:45,531,480...45,611,492
Ensembl chr 7:43,645,084...43,725,028
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Pbrm1
polybromo 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24185509
NCBI chr16:6,219,933...6,319,336
Ensembl chr16:6,213,300...6,311,780
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Peg3
paternally expressed 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr 1:67,097,874...67,124,692
Ensembl chr 1:67,097,904...67,124,671
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Pes1
pescadillo ribosomal biogenesis factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:34845814
NCBI chr14:78,850,754...78,867,134
Ensembl chr14:78,850,709...78,867,134
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Pir
pirin
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr X:33,740,428...33,851,049
Ensembl chr X:30,108,538...30,219,218
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Ppia
peptidylprolyl isomerase A
ameliorates
ISO
human cell line and construct in a mouse model
RGD
PMID:21871105
RGD:150429623
NCBI chr14:85,491,223...85,496,884
Ensembl chr14:81,275,091...81,299,601
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Ppp3ca
protein phosphatase 3 catalytic subunit alpha
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 2:227,839,058...228,113,560
Ensembl chr 2:225,165,766...225,438,974
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Prex2
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
sexual_dimorphism
ISO
DNA:substitutions, insertion/deletions: (human)
RGD
PMID:28000796
RGD:151665188
NCBI chr 5:12,720,683...13,036,077
Ensembl chr 5:7,942,573...8,253,068
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Prkaca
protein kinase cAMP-activated catalytic subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr19:41,059,843...41,083,189
Ensembl chr19:24,155,090...24,178,430
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Prkacb
protein kinase cAMP-activated catalytic subunit beta
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26258846
NCBI chr 2:238,297,140...238,389,317
Ensembl chr 2:235,636,885...235,726,198
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Prrg4
proline rich and Gla domain 4
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 3:91,214,646...91,243,347
Ensembl chr 3:91,214,653...91,243,273
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Prss2
protease, serine, 2
ISO
protein:increased expression:serum
RGD
PMID:8621252
RGD:2324908
NCBI chr 4:71,244,964...71,250,043
Ensembl chr 4:70,278,304...70,283,385
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Prss56
serine protease 56
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 9:95,289,984...95,307,877
Ensembl chr 9:87,854,805...87,859,978
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27022031 PMID:23376645
RGD:12802341
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
protein:increased expression:bile duct ClinVar Annotator: match by term: Cholangiocarcinoma CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:16818635 PMID:19621664
RGD:2317180
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Rassf8
Ras association domain family member 8
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 4:178,716,110...178,798,042
Ensembl chr 4:178,719,992...178,796,690
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Reg1a
regenerating family member 1 alpha
susceptibility
ISO
mRNA, protein:increased expression:liver (human)
RGD
PMID:11343228
RGD:10044031
NCBI chr 4:112,450,466...112,453,130
Ensembl chr 4:110,892,453...110,895,570
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Rnf39
ring finger protein 39
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr20:1,610,027...1,615,516
Ensembl chr20:1,604,794...1,610,283
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Rnf43
ring finger protein 43
exacerbates
ISO
CTD Direct Evidence: marker/mechanism associated with opisthorchiasis;DNA:SNPs:multiple: (human)
CTD RGD
PMID:22561520 PMID:22561520
RGD:151361227
NCBI chr10:72,958,744...73,034,540
Ensembl chr10:72,464,348...72,536,977
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Robo2
roundabout guidance receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr11:26,015,919...27,583,750
Ensembl chr11:12,528,951...13,041,536
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Runx3
RUNX family transcription factor 3
ISO
protein:decreased expression:bile duct
RGD
PMID:19827872
RGD:2324955
NCBI chr 5:152,644,270...152,702,835
Ensembl chr 5:147,360,994...147,419,156
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Slc4a4
solute carrier family 4 member 4
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr14:19,125,394...19,577,379
Ensembl chr14:18,845,159...19,272,883
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Slc5a5
solute carrier family 5 member 5
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17408651
NCBI chr16:18,580,705...18,590,692
Ensembl chr16:18,546,709...18,556,697
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Slc7a5
solute carrier family 7 member 5
disease_progression treatment
ISO
RGD
PMID:25475870 PMID:28347255 PMID:24131658
RGD:151361214 , RGD:151361294 , RGD:151361287
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823
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Smad4
SMAD family member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22561520
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438
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Socs3
suppressor of cytokine signaling 3
severity
ISO
protein:decreased expression:bile duct (human)
RGD
PMID:26485275
RGD:11250478
NCBI chr10:103,692,579...103,695,975
Ensembl chr10:103,193,537...103,197,787
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Sox17
SRY-box transcription factor 17
severity
IEP
RGD
PMID:20816680
RGD:4889598
NCBI chr 5:19,814,345...19,819,859
Ensembl chr 5:15,016,731...15,022,228
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Sox2
SRY-box transcription factor 2
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr 2:119,465,131...119,467,542
Ensembl chr 2:117,536,929...117,539,338
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Tgfb1
transforming growth factor, beta 1
disease_progression
ISO IEP
protein:increased expression:pancreas
RGD
PMID:16083599 PMID:12632524
RGD:2325020 , RGD:1299231
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Tgfbr2
transforming growth factor, beta receptor 2
IEP
mRNA:increased expression:bile duct
RGD
PMID:12632524
RGD:1299231
NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:115,794,537...115,883,228
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Thbs1
thrombospondin 1
disease_progression
ISO
DNA:hypermethylation (human)
RGD
PMID:11927969 PMID:12213730 PMID:16465407
RGD:2325027 , RGD:2325026 , RGD:2325024
NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:105,056,292...105,071,440
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Tnc
tenascin C
severity
IEP
RGD
PMID:20816680
RGD:4889598
NCBI chr 5:82,391,340...82,476,197
Ensembl chr 5:77,375,851...77,460,624
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Tnfaip3
TNF alpha induced protein 3
severity
ISO
protein:increased expression:bile duct (human)
RGD
PMID:26485275
RGD:11250478
NCBI chr 1:15,528,921...15,543,993
Ensembl chr 1:13,709,206...13,725,282
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16818635 PMID:22561520
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Ttr
transthyretin
ISO
protein:decreased expression:blood serum (human)
RGD
PMID:18275060
RGD:151660506
NCBI chr18:12,216,684...12,225,972
Ensembl chr18:11,943,789...11,951,008
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Ugt1a9
UDP glucuronosyltransferase family 1 member A9
ISO
RGD
PMID:9230212
RGD:2325161
NCBI chr 9:96,144,786...96,256,264
Ensembl chr 9:88,713,184...88,808,465
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Vegfa
vascular endothelial growth factor A
ISO
ClinVar Annotator: match by term: Cholangiocarcinoma
ClinVar
PMID:18550579
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Wdhd1
WD repeat and HMG-box DNA binding protein 1
ameliorates
ISO
RGD
PMID:30314946
RGD:156420141
NCBI chr15:22,957,492...23,002,820
Ensembl chr15:20,489,291...20,523,096
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Wnt9a
Wnt family member 9A
disease_progression
ISO
mRNA:altered expression:liver (human)
RGD
PMID:31687280
RGD:152998978
NCBI chr10:44,593,691...44,620,682
Ensembl chr10:44,094,140...44,121,133
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H3f3b
H3.3 histone B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24162739
NCBI chr10:101,755,404...101,764,616
Ensembl chr10:101,256,480...101,258,709 Ensembl chr13:101,256,480...101,258,709
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Tp53
tumor protein p53
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Choroid plexus papilloma | ClinVar Annotator: match by term: PAPILLOMA OF CHOROID PLEXUS | ClinVar Annotator: match by term: Papilloma of choroid plexus
CTD OMIM ClinVar
PMID:1565143 PMID:1565144 PMID:1591732 PMID:1631137 PMID:1683921 PMID:1975675 PMID:1978757 PMID:1999338 PMID:2046748 PMID:2932480 PMID:4122735 PMID:7565304 PMID:7651740 PMID:7732013 PMID:7783166 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8164043 PMID:8242752 PMID:8423216 PMID:8425176 PMID:8479749 PMID:8550239 PMID:8718514 PMID:8825920 PMID:9047394 PMID:9218725 PMID:9242456 PMID:9364015 PMID:9399838 PMID:9546439 PMID:9572492 PMID:9582268 PMID:9607760 PMID:9627118 PMID:9662334 PMID:9667734 PMID:9704930 PMID:9704931 PMID:9891044 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10486318 PMID:10519380 PMID:10589545 PMID:10797439 PMID:10802655 PMID:10864200 PMID:10922393 PMID:11139324 PMID:11180592 PMID:11370630 PMID:11403041 PMID:11479205 PMID:11481490 PMID:11521785 PMID:11600572 PMID:11753428 PMID:11782540 PMID:12007217 PMID:12019170 PMID:12085209 PMID:12567188 PMID:12619118 PMID:12672316 PMID:12826609 PMID:12885464 PMID:12917626 PMID:14743206 PMID:15037740 PMID:15121773 PMID:15355915 PMID:15381368 PMID:15390294 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15741269 PMID:15781620 PMID:15925506 PMID:15951970 PMID:15977174 PMID:16033918 PMID:16199549 PMID:16258005 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16551709 PMID:16682957 PMID:16750598 PMID:16818505 PMID:16861262 PMID:16933305 PMID:16964264 PMID:16969106 PMID:17015838 PMID:17308077 PMID:17311302 PMID:17535973 PMID:17540308 PMID:17567834 PMID:17599946 PMID:17606709 PMID:17636407 PMID:17638920 PMID:17940213 PMID:18248785 PMID:18270399 PMID:18307025 PMID:18373486 PMID:18511570 PMID:18685109 PMID:18940924 PMID:18989156 PMID:19046423 PMID:19101993 PMID:19127115 PMID:19367569 PMID:19454241 PMID:19521721 PMID:19556618 PMID:19711436 PMID:19714490 PMID:19717094 PMID:19850740 PMID:19877175 PMID:19881536 PMID:20028212 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20301488 PMID:20407015 PMID:20436704 PMID:20455025 PMID:20516128 PMID:20520810 PMID:20522432 PMID:20593220 PMID:20689556 PMID:20693561 PMID:20805372 PMID:21118481 PMID:21187651 PMID:21192060 PMID:21305319 PMID:21343334 PMID:21356188 PMID:21440489 PMID:21445056 PMID:21445348 PMID:21464421 PMID:21468523 PMID:21484931 PMID:21519010 PMID:21535297 PMID:21552135 PMID:21601526 PMID:21619694 PMID:21630152 PMID:21665182 PMID:21665242 PMID:21672450 PMID:21761402 PMID:22004116 PMID:22006311 PMID:22110706 PMID:22170717 PMID:22186996 PMID:22233476 PMID:22455664 PMID:22619358 PMID:22653678 PMID:22703879 PMID:22729912 PMID:22744426 PMID:22811390 PMID:22822097 PMID:22869713 PMID:22915647 PMID:22923379 PMID:23056559 PMID:23161690 PMID:23172776 PMID:23175693 PMID:23246812 PMID:23263379 PMID:23469205 PMID:23484829 PMID:23538418 PMID:23570263 PMID:23624782 PMID:23630318 PMID:23639312 PMID:23713777 PMID:23733769 PMID:23792586 PMID:23794094 PMID:23887774 PMID:23894400 PMID:24033266 PMID:24065105 PMID:24076587 PMID:24122735 PMID:24382691 PMID:24501221 PMID:24573247 PMID:24590827 PMID:24651012 PMID:24677579 PMID:24702488 PMID:24728327 PMID:24764719 PMID:24810334 PMID:24835218 PMID:24884479 PMID:24936644 PMID:25059482 PMID:25256166 PMID:25326637 PMID:25404506 PMID:25584008 PMID:25612911 PMID:25736369 PMID:25741868 PMID:25765855 PMID:25773284 PMID:25787918 PMID:25896519 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26205489 PMID:26225655 PMID:26230955 PMID:26332594 PMID:26425688 PMID:26452166 PMID:26467025 PMID:26572807 PMID:26580448 PMID:26585234 PMID:26681051 PMID:26681312 PMID:26681682 PMID:26718964 PMID:26786923 PMID:26822237 PMID:26845104 PMID:26911350 PMID:27022024 PMID:27081505 PMID:27101110 PMID:27146902 PMID:27153395 PMID:27223487 PMID:27276561 PMID:27311873 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27516001 PMID:27601191 PMID:27621308 PMID:27622479 PMID:27663983 PMID:27680515 PMID:27683180 PMID:27714481 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28349240 PMID:28369373 PMID:28387921 PMID:28453743 PMID:28453760 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28664506 PMID:28724667 PMID:28756477 PMID:28780976 PMID:28861920 PMID:28864397 PMID:28873162 PMID:28968711 PMID:28984303 PMID:29070607 PMID:29300620 PMID:29324801 PMID:29392648 PMID:29478780 PMID:29489754 PMID:29522266 PMID:29575851 PMID:29753700 PMID:29922827 PMID:29956451 PMID:29979965 PMID:30042151 PMID:30076369 PMID:30092803 PMID:30107858 PMID:30147334 PMID:30224644 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30588330 PMID:30596752 PMID:30630526 PMID:30709381 PMID:30816478 PMID:30840781 PMID:30851333 PMID:30982232 PMID:31081129 PMID:31089155 PMID:31105275 PMID:31321604 PMID:31472337 PMID:31494577 PMID:31567591 PMID:31742824 PMID:31744167 PMID:31748977 PMID:31775759 PMID:31845386 PMID:31882575 PMID:31978118 PMID:31983162 PMID:32000721 PMID:32039725 PMID:32156018 PMID:32292755 PMID:32322420 PMID:32427313 PMID:32592449 PMID:32658383 PMID:32671623 PMID:32817165 PMID:32832836 PMID:32888145 PMID:32906206 PMID:32980694 PMID:32986223 PMID:33163847 PMID:33245408 PMID:33257846 PMID:33258288 PMID:33300245 PMID:33372952 PMID:33471991 PMID:33603772 PMID:33637564 PMID:33840814 PMID:34088725 PMID:34166060 PMID:34240179 PMID:34249098 PMID:34299313 PMID:34503094 PMID:34529667 PMID:34540492 PMID:34670578 PMID:34709361 PMID:34754157 PMID:34885220 PMID:35043155 PMID:35367578 PMID:35802772 PMID:35974385 PMID:36003761 PMID:36008825 PMID:36309086 PMID:36329109 PMID:36988593 PMID:37653074 PMID:39060302 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
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
OMIM ClinVar
PMID:15016963 PMID:15520168 PMID:15608678 PMID:15930273 PMID:17376864 PMID:17673550 PMID:18074223 PMID:20593314 PMID:22120714 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25599672 PMID:25681199 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26627007 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28492532 PMID:29446767 PMID:29988677 PMID:31536475 PMID:31775759 PMID:33054853 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:35483878 PMID:37667289 PMID:37712948 PMID:39825153 More...
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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Gna11
G protein subunit alpha 11
ISO
ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
ClinVar
PMID:25741868 PMID:26778290 PMID:27476652 PMID:28492532 PMID:31726051 PMID:35351629 PMID:35777808 More...
NCBI chr 7:8,814,285...8,828,628
Ensembl chr 7:8,162,750...8,179,812
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO ISS
ClinVar Annotator: match by term: CLOVE SYNDROME | ClinVar Annotator: match by term: CLOVES syndrome | ClinVar Annotator: match by term: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, EPIDERMAL NEVI, AND SKELETAL/SPINAL ABNORMALITIES | ClinVar Annotator: match by term: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi OMIM:612918 CTD Direct Evidence: marker/mechanism DNA: missense mutations: exon :p.H1047R, p.H1047L
OMIM ClinVar MouseDO CTD RGD
PMID:15016963 PMID:15254419 PMID:15520168 PMID:15608678 PMID:15647370 PMID:15805248 PMID:15930273 PMID:16906227 PMID:16930767 PMID:17376864 PMID:17673550 PMID:18074223 PMID:18676830 PMID:18725974 PMID:19029981 PMID:19223544 PMID:19366826 PMID:19513541 PMID:19903786 PMID:20453058 PMID:20593314 PMID:20619739 PMID:21078999 PMID:21430269 PMID:21558396 PMID:21824802 PMID:22120714 PMID:22162582 PMID:22162589 PMID:22228622 PMID:22271473 PMID:22357840 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:22949682 PMID:23066039 PMID:23100325 PMID:23888070 PMID:23946963 PMID:24033266 PMID:24559322 PMID:24782230 PMID:25157968 PMID:25326635 PMID:25326637 PMID:25599672 PMID:25681199 PMID:25741868 PMID:25880439 PMID:25915946 PMID:26266975 PMID:26266985 PMID:26619011 PMID:26627007 PMID:26637981 PMID:26822237 PMID:26851524 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:28502725 PMID:28941273 PMID:29296277 PMID:29446767 PMID:29661094 PMID:29758562 PMID:29988677 PMID:30063105 PMID:30231930 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:32595695 PMID:32778138 PMID:33054853 PMID:33077954 PMID:34008892 PMID:34496175 PMID:34568242 PMID:34606700 PMID:35483878 PMID:36474027 PMID:37667289 PMID:37712948 PMID:39825153 PMID:22729222 More...
RGD:13207409
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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Pik3r1
phosphoinositide-3-kinase regulatory subunit 1
ISO
ClinVar Annotator: match by term: CLOVES syndrome
ClinVar
PMID:25741868 PMID:34040190
NCBI chr 2:34,612,946...34,697,660
Ensembl chr 2:32,882,032...32,963,631
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Axin2
axin 2
ISO
protein:increased expression::
RGD
PMID:11809809
RGD:151356508
NCBI chr10:94,393,379...94,426,579
Ensembl chr10:93,899,245...93,926,231
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Cacna1d
calcium voltage-gated channel subunit alpha1 D
ISO
protein:increased expression:colon (human)
RGD
PMID:29079724
RGD:152177516
NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,228,306...5,668,215
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Ccnd1
cyclin D1
severity
ISO
RGD
PMID:11375949
RGD:151665121
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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Ccnd2
cyclin D2
severity
ISO
RGD
PMID:11375949
RGD:151665121
NCBI chr 4:161,653,048...161,675,422
Ensembl chr 4:159,962,363...159,989,495
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Chka
choline kinase alpha
ISO
protein:increased expression:colonic mucosa (human)
RGD
PMID:10363580
RGD:10401945
NCBI chr 1:210,506,069...210,554,753
Ensembl chr 1:201,076,860...201,125,516
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Igf2bp1
insulin-like growth factor 2 mRNA binding protein 1
ISO
RGD
PMID:26194191
RGD:11086893
NCBI chr10:81,405,021...81,447,814
Ensembl chr10:80,908,076...80,951,129
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Rac1
Rac family small GTPase 1
ISO
RGD
PMID:12865273
RGD:13432048
NCBI chr12:16,150,411...16,170,864
Ensembl chr12:11,036,698...11,057,251
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Rbp4
retinol binding protein 4
ISO
protein:increased expression:blood serum (human)
RGD
PMID:25712946
RGD:329849123
NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399
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Tet2
tet methylcytosine dioxygenase 2
ISO
mRNA:decreased expression:colon (human)
RGD
PMID:29875879
RGD:150429665
NCBI chr 2:224,662,654...224,746,819
Ensembl chr 2:221,988,645...222,072,534
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Colorectal adenoma
ClinVar
PMID:2472832 PMID:10811618 PMID:11257105 PMID:11823972 PMID:11904335 PMID:16454848 PMID:18199528 PMID:18844223 PMID:20233475 PMID:21859464 PMID:22703879 PMID:22722839 PMID:22995991 PMID:23085758 PMID:23292937 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24728327 PMID:24861525 PMID:25085752 PMID:25178641 PMID:25203624 PMID:25318351 PMID:25356985 PMID:25479140 PMID:25559809 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25980754 PMID:26000489 PMID:26332594 PMID:26416840 PMID:26467025 PMID:26580448 PMID:27153395 PMID:27535533 PMID:27600092 PMID:28259476 PMID:28301460 PMID:28492532 PMID:28503720 PMID:28873162 PMID:28944238 PMID:29212164 PMID:29684080 PMID:30122538 PMID:30256826 PMID:31159747 PMID:33503190 PMID:34250417 PMID:34301788 PMID:35128723 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Birc7
baculoviral IAP repeat-containing 7
ISO
RGD
PMID:21122381
RGD:13217408
NCBI chr 3:188,425,392...188,430,174
Ensembl chr 3:168,047,824...168,052,606
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Cyp24a1
cytochrome P450, family 24, subfamily a, polypeptide 1
severity treatment
ISO
DNA:SNPs:intron, CDS: (rs927650), (rs35051736) (human) DNA:SNP:CDS: (rs2296241) (human)
RGD
PMID:26241700 PMID:27978548
RGD:11521055 , RGD:152025254
NCBI chr 3:179,694,647...179,709,083
Ensembl chr 3:159,275,947...159,290,383
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
disease_progression
ISO
protein:increased expression:large intestine
RGD
PMID:30214616
RGD:126779593
NCBI chr 4:77,624,223...77,698,598
Ensembl chr 4:76,624,399...76,687,362
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F5
coagulation factor V
ISO
protein:increased expression:serum
RGD
PMID:30971492
RGD:40907058
NCBI chr13:79,046,657...79,116,247
Ensembl chr13:76,513,255...76,582,317
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:8264230
RGD:13210753
NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036
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Gpx2
glutathione peroxidase 2
ISO
mRNA:increased expression:colorectum (human)
RGD
PMID:30469315
RGD:151665806
NCBI chr 6:101,226,745...101,230,033
Ensembl chr 6:95,493,589...95,496,877
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Gpx3
glutathione peroxidase 3
ISO
mRNA:decreased expression:colorectum (human)
RGD
PMID:30469315
RGD:151665806
NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,028,570...39,037,035
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion:cds (human)
RGD
PMID:20375710
RGD:7495820
NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411
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Gstp1
glutathione S-transferase pi 1
ISO
DNA:SNP: :p.A114V (human)
RGD
PMID:20375710
RGD:7495820
NCBI chr 1:210,767,237...210,770,242
Ensembl chr 1:201,321,672...201,340,226
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Jun
Jun proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:8264230
RGD:13210753
NCBI chr 5:115,009,900...115,012,993
Ensembl chr 5:109,893,145...109,897,656
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Map2k4
mitogen activated protein kinase kinase 4
ISO
protein:decreased expression:colorectum (human)
RGD
PMID:28423721
RGD:150429743
NCBI chr10:50,842,348...50,947,063
Ensembl chr10:50,344,915...50,447,993
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Mapk8
mitogen-activated protein kinase 8
ISO
RGD
PMID:21122381 PMID:23082052
RGD:13217408 , RGD:13217413
NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,638,924...8,721,981
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Mir193b
microRNA 193b
disease_progression
ISO
RNA:decreased expression:blood plasma (human)
RGD
PMID:29226653
RGD:153344556
NCBI chr10:1,317,742...1,317,824
Ensembl chr10:1,317,742...1,317,824
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Mir224
microRNA 224
ISO
mRNA:increased expression:colorectal mucosa:
RGD
PMID:25919696
RGD:14398749
NCBI chr X:155,107,130...155,107,211
Ensembl chr X:150,065,088...150,065,169
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Myd88
MYD88, innate immune signal transduction adaptor
ameliorates
ISO
RGD
PMID:30063920
RGD:150519915
NCBI chr 8:127,952,161...127,956,230
Ensembl chr 8:119,074,437...119,079,415
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Ptch1
patched 1
ISO
RGD
PMID:24612059
RGD:150523840
NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333
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Ptgis
prostaglandin I2 synthase
susceptibility
ISO
DNA:repeats:promoter:
RGD
PMID:16537708
RGD:151347835
NCBI chr 3:176,347,589...176,383,251
Ensembl chr 3:155,916,412...155,965,451
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Raf1
Raf-1 proto-oncogene, serine/threonine kinase
ISO
RGD
PMID:21122381
RGD:13217408
NCBI chr 4:150,352,158...150,412,813
Ensembl chr 4:148,679,530...148,740,317
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Selenoh
selenoprotein H
ISO
mRNA:increased expression:colorectum (human)
RGD
PMID:30469315
RGD:151665806
NCBI chr 3:69,751,850...69,753,417
Ensembl chr 3:69,752,757...69,753,417
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Selenop
selenoprotein P
ISO
mRNA:decreased expression:colorectum (human)
RGD
PMID:30469315
RGD:151665806
NCBI chr 2:54,225,736...54,236,022
Ensembl chr 2:52,498,339...52,508,852
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Selenos
selenoprotein S
ISO
mRNA:decreased expression:colorectum (human)
RGD
PMID:30469315
RGD:151665806
NCBI chr 1:129,070,240...129,080,007
Ensembl chr 1:119,659,751...119,669,833
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Sephs2
selenophosphate synthetase 2
ISO
mRNA:decreased expression:colorectum (human)
RGD
PMID:30469315
RGD:151665806
NCBI chr 1:191,323,637...191,325,955
Ensembl chr 1:181,892,599...181,895,497
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Smad4
SMAD family member 4
ISO
mRNA:increased expression:mucosa
RGD
PMID:11480790
RGD:21066339
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438
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Smarcc1
SWI/SNF related BAF chromatin remodeling complex subunit C1
ameliorates
ISO
protein:increased expression:colorectal mucosa (human)
RGD
PMID:19156145
RGD:151347861
NCBI chr 8:118,986,917...119,093,161
Ensembl chr 8:110,111,122...110,214,720
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Tnfrsf1a
TNF receptor superfamily member 1A
ISO
protein:increased expression:serum, colorectal mucosa, epithelial cell
RGD
PMID:23082052
RGD:13217413
NCBI chr 4:159,837,119...159,849,817
Ensembl chr 4:158,150,820...158,163,591
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Ttr
transthyretin
ISO
protein:decreased expression:blood serum (human) protein:decreased expression:colorectum (human)
RGD
PMID:21136704 PMID:33739034
RGD:151664608 , RGD:151660505
NCBI chr18:12,216,684...12,225,972
Ensembl chr18:11,943,789...11,951,008
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Txnrd3
thioredoxin reductase 3
ISO
mRNA:increased expression:colorectum (human)
RGD
PMID:30469315
RGD:151665806
NCBI chr 4:123,629,768...123,669,713
Ensembl chr 4:122,072,548...122,112,491
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Apob
apolipoprotein B
ISO
protein:increased expression:serum
RGD
PMID:18076041
RGD:2325763
NCBI chr 6:36,563,704...36,603,300
Ensembl chr 6:30,844,368...30,892,497
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Fscn1
fascin actin-bundling protein 1
ISO
mRNA, protein:increased expression: :
RGD
PMID:15136764
RGD:2317789
NCBI chr12:16,710,601...16,723,734
Ensembl chr12:11,597,048...11,610,211
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Msln
mesothelin
ISO
protein:increased expression:common bile duct, ampulla of vater
RGD
PMID:16416732
RGD:2326064
NCBI chr10:15,276,489...15,285,921
Ensembl chr10:14,771,961...14,777,643
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Mtap
methylthioadenosine phosphorylase
ISO
DNA, protein:deletion, decreased expression:common bile duct:
RGD
PMID:15662124
RGD:2317954
NCBI chr 5:108,990,270...109,036,494
Ensembl chr 5:103,873,020...103,939,406
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Muc1
mucin 1, cell surface associated
disease_progression
ISO
protein:increased expression:bile duct
RGD
PMID:8766528
RGD:2324856
NCBI chr 2:176,933,312...176,938,497
Ensembl chr 2:174,635,995...174,640,733
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Muc4
mucin 4, cell surface associated
ISO
protein:increased expression:pancreas
RGD
PMID:8143972
RGD:2324890
NCBI chr11:81,513,321...81,575,200
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Muc5ac
mucin 5AC, oligomeric mucus/gel-forming
ISO
protein:altered expression:pancreas
RGD
PMID:8143972
RGD:2324890
NCBI chr 1:206,293,717...206,326,006
Ensembl chr 1:196,864,336...196,896,475
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Tymp
thymidine phosphorylase
disease_progression
ISO
RGD
PMID:10760693
RGD:2325158
NCBI chr 7:122,318,396...122,323,716
Ensembl chr 7:120,438,770...120,443,874 Ensembl chr 7:120,438,770...120,443,874
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Pcsk7
proprotein convertase subtilisin/kexin type 7
ISO
ClinVar Annotator: match by term: Corpus callosum lipoma
ClinVar
PMID:25741868
NCBI chr 8:55,098,821...55,121,416
Ensembl chr 8:46,202,131...46,224,705
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Craniopharyngioma
ClinVar
PMID:1316610 PMID:8162022 PMID:8381579 PMID:8381581 PMID:8395941 PMID:9101302 PMID:9375853 PMID:9703421 PMID:9824584 PMID:10083733 PMID:11247896 PMID:11677205 PMID:12172928 PMID:12486240 PMID:15311282 PMID:15771908 PMID:16088911 PMID:17293347 PMID:18794146 PMID:19029688 PMID:20649969 PMID:20924072 PMID:22135120 PMID:23159591 PMID:25590978 PMID:25741868 PMID:26446593 PMID:26467025 PMID:26625971 PMID:26840078 PMID:27081525 PMID:28492532 PMID:29351919 PMID:29753700 PMID:31159747 PMID:31469036 PMID:31504825 PMID:35189564 PMID:36225625 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413733
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24413733
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Craniopharyngioma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
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Pdgfra
platelet derived growth factor receptor alpha
disease_progression
ISO
RGD
PMID:20190664
RGD:11080971
NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Craniopharyngioma
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29230040 PMID:34301788 PMID:35884425 More...
NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333
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Sufu
SUFU negative regulator of hedgehog signaling
ISO
ClinVar Annotator: match by term: Rathke's pouch tumor
ClinVar
PMID:25741868 PMID:28492532 PMID:29641532
NCBI chr 1:255,199,108...255,296,983
Ensembl chr 1:245,257,768...245,355,577
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Tsc1
TSC complex subunit 1
ISO
ClinVar Annotator: match by term: Craniopharyngioma | ClinVar Annotator: match by term: Rathke's pouch tumor
ClinVar
PMID:22161988 PMID:25741868 PMID:28492532 PMID:29684080
NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:11,979,729...12,015,674
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Col11a2
collagen type XI alpha 2 chain
ISO
ClinVar Annotator: match by term: Cystic hygroma
ClinVar
PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 PMID:26445815 PMID:28492532 PMID:29456477 PMID:31299979 PMID:31680349 PMID:33111345 More...
NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,786,929...4,815,985
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Foxo3
forkhead box O3
ISS
OMIM:166950
MouseDO
NCBI chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Desmoid tumor
ClinVar
PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 PMID:22135120 PMID:23757202 PMID:25741868 PMID:27081525 PMID:28492532 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Desmoid tumor
ClinVar
PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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Mtap
methylthioadenosine phosphorylase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bone dysplasia with malignant fibrous histiocytoma | ClinVar Annotator: match by term: Bone dysplasia with medullary fibrosarcoma | ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MYOPATHY, LIMB-GIRDLE, WITH BONE FRAGILITY
OMIM CTD ClinVar
PMID:3745248 PMID:4713573 PMID:8781110 PMID:13511301 PMID:16244874 PMID:16419137 PMID:22464254 PMID:25741868 PMID:28492532 More...
NCBI chr 5:108,990,270...109,036,494
Ensembl chr 5:103,873,020...103,939,406
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Men1
menin 1
ISO
associated with Neuroendocrine Tumors; DNA:loss of heterozygosity: :
RGD
PMID:17135306
RGD:2317341
NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
DNA:mutation:cds:p.V600E(human)
RGD
PMID:25346165
RGD:11567238
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
PMID:28492532
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
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Mre11
MRE11 homolog, double strand break repair nuclease
ISO
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
NCBI chr 8:19,900,211...19,961,906
Ensembl chr 8:11,632,354...11,678,279
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Tbx3
T-box transcription factor 3
ISO
ClinVar Annotator: match by term: Eccrine porocarcinoma
ClinVar
NCBI chr12:42,540,378...42,555,490
Ensembl chr12:36,881,445...36,893,708
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Arid1a
AT-rich interaction domain 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29376028
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564
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Bcor
BCL6 co-repressor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29376028
NCBI chr X:13,282,431...13,402,254
Ensembl chr X:10,687,732...10,729,613
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Bub1b
BUB1 mitotic checkpoint serine/threonine kinase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15475955
NCBI chr 3:126,017,019...126,069,470
Ensembl chr 3:105,563,138...105,615,547
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Dmd
dystrophin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24793134
NCBI chr X:51,070,098...53,437,845
Ensembl chr X:47,272,331...49,504,207
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Myod1
myogenic differentiation 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24793135
NCBI chr 1:106,021,161...106,023,871
Ensembl chr 1:96,884,948...96,887,554
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma
ClinVar
PMID:26822237
NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925
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Setd2
SET domain containing 2, histone lysine methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29376028
NCBI chr 8:119,390,207...119,475,863
Ensembl chr 8:110,511,772...110,597,489
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Stk11
serine/threonine kinase 11
ISO
ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma
ClinVar
PMID:25741868 PMID:28492532 PMID:33528079 PMID:35430768
NCBI chr 7:10,225,204...10,241,965
Ensembl chr 7:9,575,269...9,591,315
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Yap1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31494105
NCBI chr 8:13,380,551...13,451,640
Ensembl chr 8:5,095,722...5,167,010
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Slc22a18
solute carrier family 22, member 18
ISO
CTD Direct Evidence: marker/mechanism
OMIM CTD
NCBI chr 1:208,100,032...208,124,382
Ensembl chr 1:198,671,731...198,694,975
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Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma, embryonal, 2 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:23728841 PMID:24728327 PMID:24839956 PMID:24909177 PMID:25022261 PMID:25118636 PMID:25741868 PMID:26467025 PMID:26475046 PMID:26545620 PMID:26555935 PMID:26577641 PMID:26925222 PMID:27459524 PMID:28492532 PMID:28524158 PMID:28873162 PMID:29399970 PMID:29883781 PMID:30014022 PMID:30097050 PMID:30178239 PMID:30446821 PMID:30672147 PMID:31838154 PMID:32714280 PMID:33158809 PMID:33718253 PMID:34291157 PMID:34313605 PMID:38084291 PMID:38874686 More...
NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965
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Birc5
baculoviral IAP repeat-containing 5
ISO
protein:increased expression:endometrium
RGD
PMID:16803539
RGD:2298940
NCBI chr10:103,567,369...103,580,069
Ensembl chr10:103,073,408...103,081,380
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Car9
carbonic anhydrase 9
ISO
protein:altered localization:membrane, endometrium
RGD
PMID:17452774
RGD:2298945
NCBI chr 5:62,559,024...62,565,626
Ensembl chr 5:57,763,206...57,769,838
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Cdc25b
cell division cycle 25B
ISO
protein:increased expression:endometrium
RGD
PMID:14559803
RGD:4105451
NCBI chr 3:138,860,148...138,870,287
Ensembl chr 3:118,407,128...118,417,272
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Cdc25c
cell division cycle 25C
ISO
RGD
PMID:12931023
RGD:4105452
NCBI chr18:26,608,483...26,630,292
Ensembl chr18:26,335,834...26,356,185
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Cdkn1c
cyclin-dependent kinase inhibitor 1C
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22064387
NCBI chr 1:208,084,801...208,087,680
Ensembl chr 1:198,655,407...198,658,048
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Celsr2
cadherin, EGF LAG seven-pass G-type receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22248470
NCBI chr 2:198,717,333...198,741,689
Ensembl chr 2:196,029,434...196,053,845
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Csrp1
cysteine and glycine-rich protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22248470
NCBI chr13:49,709,928...49,731,141
Ensembl chr13:47,167,789...47,179,384
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Ddx1
DEAD-box helicase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22248470
NCBI chr 6:41,725,365...41,756,236
Ensembl chr 6:35,996,469...36,027,365
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H19
H19 imprinted maternally expressed transcript
ISO
mRNA:altered localization:endometrium
RGD
PMID:15228427
RGD:2306178
NCBI chr 1:207,160,175...207,162,851
Ensembl chr 1:197,730,698...197,733,134
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Jup
junction plakoglobin
ISO
protein:decreased expression:endometrium
RGD
PMID:12635138
RGD:2301747
NCBI chr10:85,800,812...85,827,881
Ensembl chr10:85,300,440...85,327,057
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Kras
KRAS proto-oncogene, GTPase
ISO
RGD
PMID:19419940
RGD:2314912
NCBI chr 4:179,916,255...179,949,613
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Mmp7
matrix metallopeptidase 7
ISO
protein:increased expression:endometrium
RGD
PMID:17352221
RGD:2298522
NCBI chr 8:13,133,043...13,140,761
Ensembl chr 8:4,848,186...4,855,902
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16402032
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Ptk2
protein tyrosine kinase 2
ISO
protein:increased expression:endometrium
RGD
PMID:15536334
RGD:2292562
NCBI chr 7:107,015,730...107,220,865
Ensembl chr 7:105,126,728...105,331,783
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Skp2
S-phase kinase associated protein 2
ISO
associated with Endometrial Neoplasms;protein:increased expression:endometrium
RGD
PMID:16080017
RGD:2315043
NCBI chr 2:59,888,406...59,916,471
Ensembl chr 2:58,161,229...58,189,338
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Tff1
trefoil factor 1
ISO
protein:increased expression:endometrium
RGD
PMID:9221798
RGD:2298572
NCBI chr20:9,237,095...9,240,956
Ensembl chr20:9,235,736...9,239,597
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Endometrial hyperplasia without atypia
ClinVar
PMID:1875403 PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17332249 PMID:17704260 PMID:17910045 PMID:19047918 PMID:19358724 PMID:20805368 PMID:20949522 PMID:21079152 PMID:22499344 PMID:22683711 PMID:23096712 PMID:23174937 PMID:23255105 PMID:24629489 PMID:25623042 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26521233 PMID:26861459 PMID:28492532 PMID:29298116 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31891627 PMID:34114335 PMID:35794233 More...
NCBI chr 4:179,916,255...179,949,613
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:1316610 PMID:8381579 PMID:9824584 PMID:15311282 PMID:17293347 PMID:22135120 PMID:27081525 PMID:28492532 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:9425228 PMID:12700603 PMID:15146471 PMID:19799798 PMID:21893440 PMID:22841127 PMID:28492532 More...
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:1875403 PMID:7773929 PMID:8439212 PMID:12720172 PMID:15093544 PMID:15696205 PMID:15842656 PMID:16474405 PMID:17332249 PMID:17704260 PMID:17910045 PMID:19047918 PMID:19358724 PMID:20805368 PMID:20949522 PMID:21079152 PMID:22499344 PMID:22683711 PMID:23096712 PMID:23174937 PMID:23255105 PMID:24629489 PMID:25623042 PMID:25695684 PMID:25741868 PMID:26242988 PMID:26521233 PMID:26861459 PMID:28492532 PMID:29298116 PMID:30443000 PMID:30544177 PMID:30902772 PMID:31891627 PMID:34114335 PMID:35794233 More...
NCBI chr 4:179,916,255...179,949,613
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Atypical endometrial hyperplasia
ClinVar
PMID:12826609 PMID:25741868 PMID:28492532 PMID:29979965 PMID:30224644
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Tmem207
transmembrane protein 207
ISS
MouseDO
NCBI chr11:74,251,042...74,270,180
Ensembl chr11:74,250,815...74,270,680
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Tmc6
transmembrane channel like 6
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Epidermodysplasia verruciformis
CTD ClinVar
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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Tmc8
transmembrane channel-like 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16045695 PMID:16199547 PMID:17368633 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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Tnrc6c
trinucleotide repeat containing adaptor 6C
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis
ClinVar
PMID:28492532
NCBI chr10:103,367,498...103,478,246
Ensembl chr10:102,868,828...102,978,194
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Tmc6
transmembrane channel like 6
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1 | ClinVar Annotator: match by term: TMC6-related condition
ClinVar OMIM
PMID:9536098 PMID:12426567 PMID:15042430 PMID:16199547 PMID:17139267 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36268689 More...
NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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Tmc8
transmembrane channel-like 8
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 1
ClinVar
PMID:9536098 PMID:12426567 PMID:17576681 PMID:22158547 PMID:25741868 PMID:28492532 More...
NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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Tmc6
transmembrane channel like 6
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition
ClinVar
PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr10:102,982,059...102,999,509
Ensembl chr10:102,971,229...102,998,960
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Tmc8
transmembrane channel-like 8
susceptibility
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 2 | ClinVar Annotator: match by term: TMC8-related condition
OMIM ClinVar
PMID:9536098 PMID:10084299 PMID:12426567 PMID:16199547 PMID:17576681 PMID:22158547 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28646613 More...
NCBI chr10:103,000,038...103,010,601
Ensembl chr10:102,998,402...103,010,590
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Cib1
calcium and integrin binding 1
susceptibility
ISO
ClinVar Annotator: match by term: CIB1-related condition | ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 3
OMIM ClinVar
PMID:228581 PMID:19702156 PMID:20982046 PMID:21196704 PMID:25741868 PMID:28492532 PMID:28646613 PMID:30068544 More...
NCBI chr 1:143,587,591...143,593,153
Ensembl chr 1:134,178,331...134,213,423
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Bap1
BRCA1 associated deubiquitinase 1
disease_progression
ISO
RGD
PMID:25536104
RGD:150340631
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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Pbrm1
polybromo 1
disease_progression
ISO
RGD
PMID:25536104
RGD:150340631
NCBI chr16:6,219,933...6,319,336
Ensembl chr16:6,213,300...6,311,780
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Rac1
Rac family small GTPase 1
ISO
protein:increased expression:mucosa (human)
RGD
PMID:21537609
RGD:153350126
NCBI chr12:16,150,411...16,170,864
Ensembl chr12:11,036,698...11,057,251
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Slc7a5
solute carrier family 7 member 5
disease_progression
ISO
RGD
PMID:24890221
RGD:151361210
NCBI chr19:66,843,808...66,872,412
Ensembl chr19:49,935,220...49,963,823
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Pkd1
polycystin 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Extrahepatic bile duct cancer
ClinVar
PMID:25741868
NCBI chr10:14,077,733...14,125,682
Ensembl chr10:13,573,021...13,621,128
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Pold1
DNA polymerase delta 1, catalytic subunit
ISO
ClinVar Annotator: match by term: Extrahepatic bile duct cancer
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:104,161,984...104,178,074
Ensembl chr 1:95,025,499...95,036,465
G
Xpo1
exportin 1
disease_progression
ISO
protein:increased expression:extrahepatic bile duct (human)
RGD
PMID:27279267
RGD:151665800
NCBI chr14:101,434,450...101,476,705
Ensembl chr14:97,233,270...97,275,498
G
Ace
angiotensin I converting enzyme
ISO
DNA:deletion:intron:IVS16+1464-1751del (human)
RGD
PMID:20488708
RGD:11039024
NCBI chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
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Cand2
cullin-associated and neddylation-dissociated 2 (putative)
ISO
RGD
PMID:31426861
RGD:18899564
NCBI chr 4:148,835,050...148,864,039
Ensembl chr 4:148,835,053...148,863,153
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Glmn
glomulin, FKBP associated protein
ISO
ClinVar Annotator: match by term: Familial glomangioma
ClinVar
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30460983 PMID:31483481 More...
NCBI chr14:2,332,052...2,375,366
Ensembl chr14:2,187,642...2,230,420
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Hnf1a
HNF1 homeobox A
ISO
ClinVar Annotator: match by term: Hepatic adenomas, familial | ClinVar Annotator: match by term: LIVER CELL ADENOMAS, FAMILIAL CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8866553 PMID:8945470 PMID:9032114 PMID:9045858 PMID:9075818 PMID:9166684 PMID:9313763 PMID:9392505 PMID:9439666 PMID:9754819 PMID:10333057 PMID:10447526 PMID:10754480 PMID:10966642 PMID:11058894 PMID:11296231 PMID:11315851 PMID:11393552 PMID:12050210 PMID:12355088 PMID:12530534 PMID:12574234 PMID:12618559 PMID:14747304 PMID:15649945 PMID:15657605 PMID:15883474 PMID:15928245 PMID:17054605 PMID:17407387 PMID:17440016 PMID:17573900 PMID:17937063 PMID:17989309 PMID:18003757 PMID:19169489 PMID:19929997 PMID:21051477 PMID:21518407 PMID:21628466 PMID:21696527 PMID:22348187 PMID:22432108 PMID:23348805 PMID:23551881 PMID:23607861 PMID:24097065 PMID:25174781 PMID:25414397 PMID:25555642 PMID:25741868 PMID:26059258 PMID:26287533 PMID:26431509 PMID:26467025 PMID:27148439 PMID:27899486 PMID:28395978 PMID:28492532 PMID:28862987 PMID:29417725 PMID:30191644 PMID:30293189 PMID:30455330 PMID:30814848 PMID:31264968 PMID:31365591 PMID:31517624 PMID:31576961 PMID:31638168 PMID:32238361 PMID:32355288 PMID:32395877 PMID:32741144 PMID:32910913 PMID:33046911 PMID:33889819 PMID:34373539 PMID:35328643 PMID:35673428 PMID:36208343 More...
NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104
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Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: Familial isolated pituitary adenoma
ClinVar
PMID:22720333 PMID:24050928 PMID:25741868 PMID:26186299 PMID:26792934 PMID:28492532 PMID:29074612 More...
NCBI chr 1:210,837,473...210,848,691
Ensembl chr 1:201,407,288...201,419,122
G
Alk
ALK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Familial isolated pituitary adenoma
ClinVar
PMID:9536098 PMID:17576681 PMID:23104988 PMID:25741868 PMID:28492532 PMID:32984025 More...
NCBI chr 6:28,631,431...29,351,321
Ensembl chr 6:22,880,625...23,598,034
G
Gnai2
G protein subunit alpha i2
ISO
ClinVar Annotator: match by term: Familial isolated pituitary adenoma
ClinVar
PMID:25741868
NCBI chr 8:117,167,045...117,187,652
Ensembl chr 8:108,288,401...108,308,979
G
Antxr2
ANTXR cell adhesion molecule 2
susceptibility
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:12973667 PMID:14508707 PMID:14508707
RGD:1599125
NCBI chr14:11,845,774...11,986,166
Ensembl chr14:11,541,772...11,682,094
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Brf1
BRF1 general transcription factor IIIB subunit
IMP
RGD
PMID:18456653
RGD:9586716
NCBI chr 6:137,854,055...137,902,629
Ensembl chr 6:132,037,272...132,081,278
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Grm1
glutamate metabotropic receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24658000
NCBI chr 1:6,878,542...7,273,447
Ensembl chr 1:5,058,292...5,453,170
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Mfhas1
multifunctional ROCO family signaling regulator 1
ISO
RGD
PMID:9973190
RGD:1599928
NCBI chr16:63,248,833...63,336,441
Ensembl chr16:56,546,207...56,633,743
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Mmp21
matrix metallopeptidase 21
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16984259
NCBI chr 1:197,910,178...197,915,847
Ensembl chr 1:188,480,186...188,485,855
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Bap1
BRCA1 associated deubiquitinase 1
ISO
ClinVar Annotator: match by term: Ganglioglioma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Childhood ganglioglioma
ClinVar
PMID:19363522 PMID:19794125 PMID:21190184 PMID:21343559 PMID:21716161 PMID:22535154 PMID:24033266 More...
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Glmn
glomulin, FKBP associated protein
ISO
ClinVar Annotator: match by term: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30460983 PMID:31483481 More...
NCBI chr14:2,332,052...2,375,366
Ensembl chr14:2,187,642...2,230,420
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Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Glomus tumors familial 1
ClinVar
PMID:8981955 PMID:9683583 PMID:10323245 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11605159 PMID:11897812 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12114404 PMID:12218630 PMID:12364472 PMID:12386824 PMID:12696072 PMID:12782822 PMID:12811540 PMID:14557476 PMID:14974914 PMID:15032977 PMID:15066320 PMID:15235042 PMID:15328326 PMID:15479192 PMID:15623805 PMID:15774781 PMID:15905695 PMID:16061558 PMID:16080474 PMID:16314641 PMID:16317055 PMID:17041923 PMID:17102085 PMID:17208193 PMID:17308434 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17667967 PMID:17804857 PMID:18414213 PMID:18678321 PMID:18692411 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19454582 PMID:19550080 PMID:19584903 PMID:19802898 PMID:19825962 PMID:20301715 PMID:20418362 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22241717 PMID:22290790 PMID:22456618 PMID:22517554 PMID:22566157 PMID:22566194 PMID:22575350 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23175444 PMID:23433498 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24134185 PMID:24436918 PMID:24728327 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25058219 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25328978 PMID:25494863 PMID:25694510 PMID:25695889 PMID:25741136 PMID:25741868 PMID:25791839 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27073498 PMID:27153395 PMID:27279923 PMID:27700540 PMID:27856506 PMID:27867439 PMID:27913608 PMID:28128698 PMID:28164237 PMID:28179334 PMID:28492532 PMID:28552549 PMID:28873162 PMID:28975465 PMID:28977582 PMID:29386252 PMID:29504908 PMID:29625052 PMID:29681642 PMID:29777207 PMID:29792313 PMID:29925701 PMID:30050099 PMID:30093976 PMID:30273935 PMID:30375904 PMID:30484866 PMID:30877234 PMID:30951038 PMID:31194233 PMID:31492822 PMID:31666924 PMID:31834447 PMID:32035780 PMID:32098148 PMID:32561571 PMID:32741965 PMID:32971818 PMID:33219105 PMID:33391357 PMID:33748650 PMID:34072806 PMID:34439168 PMID:34750850 PMID:34877445 PMID:34906457 PMID:35626065 PMID:35668420 PMID:35739269 PMID:35938916 PMID:35966080 PMID:38144572 More...
NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:50,944,704...50,954,238
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Srebf2
sterol regulatory element binding transcription factor 2
ISO
RGD
PMID:16316337
RGD:1581416
NCBI chr 7:115,542,774...115,600,945
Ensembl chr 7:113,663,202...113,720,848
G
Vegfa
vascular endothelial growth factor A
ISO
mRNA:increased expression: :
RGD
PMID:20030694
RGD:8547978
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
G
Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: Somatotroph adenoma
ClinVar
PMID:2200621 PMID:5320367 PMID:9482716 PMID:9536098 PMID:12213383 PMID:12810716 PMID:16199547 PMID:16728643 PMID:17244780 PMID:17299063 PMID:17341560 PMID:17360484 PMID:17371465 PMID:17576681 PMID:17609395 PMID:18381572 PMID:18410548 PMID:19366855 PMID:19556287 PMID:19684062 PMID:19955762 PMID:20354355 PMID:20454499 PMID:20457215 PMID:20506337 PMID:20507346 PMID:20530095 PMID:20570174 PMID:20595802 PMID:20685857 PMID:21208107 PMID:21340166 PMID:21348957 PMID:21454441 PMID:21512261 PMID:21546764 PMID:21753072 PMID:21984905 PMID:22287093 PMID:22319033 PMID:22527616 PMID:22720333 PMID:23038625 PMID:23038925 PMID:23300914 PMID:23321498 PMID:23371967 PMID:23633209 PMID:23743763 PMID:24033266 PMID:24050928 PMID:24078436 PMID:24423289 PMID:24789813 PMID:25019383 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25350067 PMID:25614825 PMID:25741868 PMID:26186299 PMID:26792934 PMID:27033541 PMID:27153395 PMID:27253664 PMID:27267386 PMID:27650164 PMID:28220018 PMID:28255869 PMID:28427099 PMID:28492532 PMID:28634279 PMID:29036195 PMID:29074612 PMID:29308445 PMID:29440248 PMID:29455389 PMID:29507682 PMID:29632148 PMID:29729370 PMID:29953972 PMID:30262796 PMID:30461320 PMID:30822274 PMID:30941100 PMID:31125088 PMID:32324286 PMID:32336638 PMID:34588620 PMID:35586626 PMID:36149413 PMID:37149543 PMID:38390203 More...
NCBI chr 1:210,837,473...210,848,691
Ensembl chr 1:201,407,288...201,419,122
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
protein:increased expression:pituitary gland:
RGD
PMID:18981426
RGD:8662821
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Gh1
growth hormone 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1611713 PMID:2042694
NCBI chr10:91,727,883...91,729,860
Ensembl chr10:91,228,103...91,230,078
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Gnas
GNAS complex locus
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11254676
NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
G
Gpr101
G protein-coupled receptor 101
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
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Hpgd
15-hydroxyprostaglandin dehydrogenase
ISO
mRNA:decreased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr16:38,996,876...39,034,831
Ensembl chr16:33,986,266...34,024,228
G
Men1
menin 1
ISS ISO
OMIM:102200 ClinVar Annotator: match by term: Somatotroph adenoma
MouseDO ClinVar
PMID:25741868 PMID:30630164
NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871
G
Prl
prolactin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:2042694
NCBI chr17:38,287,355...38,298,234
Ensembl chr17:37,860,007...37,870,062
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
mRNA:increased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
G
Gpr101
G protein-coupled receptor 101
ISO
ClinVar Annotator: match by term: GPR101-related condition | ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2
OMIM ClinVar
PMID:25470569 PMID:25806919 PMID:25806920 PMID:25806921 PMID:26792934 PMID:26815903 PMID:27245663 PMID:27498687 PMID:28492532 PMID:29389097 More...
NCBI chr X:135,540,042...135,543,958
Ensembl chr X:135,540,042...135,543,958
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Cxcr4
C-X-C motif chemokine receptor 4
ISO
mRNA,protein:increased expression:temporal lobe :
RGD
PMID:27388534
RGD:155641257
NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883
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Dll4
delta like canonical Notch ligand 4
ISO
mRNA,protein:increased expression:temporal lobe :
RGD
PMID:27388534
RGD:155641257
NCBI chr 3:126,770,945...126,780,769
Ensembl chr 3:106,316,986...106,326,931
G
Hey1
hes-related family bHLH transcription factor with YRPW motif 1
ISO
mRNA,protein:increased expression:temporal lobe :
RGD
PMID:27388534
RGD:155641257
NCBI chr 2:95,003,935...95,006,457
Ensembl chr 2:93,095,498...93,100,312
G
Hif1a
hypoxia inducible factor 1 subunit alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:92,624,390...92,669,261
G
Ndrg1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 7:100,573,526...100,614,902
Ensembl chr 7:98,684,487...98,725,880
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Notch4
notch receptor 4
ISO
mRNA,protein:increased expression:temporal lobe :
RGD
PMID:27388534
RGD:155641257
NCBI chr20:4,164,969...4,189,072
Ensembl chr20:4,160,445...4,184,465
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Foxo1
forkhead box O1
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chr 2:138,462,974...138,541,420
Ensembl chr 2:136,312,168...136,387,790
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Foxo3
forkhead box O3
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chr20:47,251,968...47,348,254
Ensembl chr20:45,672,995...45,764,561
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Foxo4
forkhead box O4
ISO
RGD
PMID:17254969
RGD:155630604
NCBI chr X:70,425,218...70,432,120
Ensembl chr X:66,385,558...66,392,115
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Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Glabellar hemangioma
ClinVar
PMID:25741868
NCBI chr 4:133,117,346...133,808,647
Ensembl chr 4:131,564,756...132,112,258
G
Idh1
isocitrate dehydrogenase (NADP(+)) 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22057234
NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:66,534,146...66,563,708
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22057234
NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025
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Mmp2
matrix metallopeptidase 2
ISO
RGD
PMID:19821096
RGD:8657063
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Hemangioma
CTD ClinVar
PMID:9286463 PMID:9467011 PMID:21194675 PMID:28492532
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Slc2a1
solute carrier family 2 member 1
ISO
RGD
PMID:10665907
RGD:12879499
NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416
G
Srd5a3
steroid 5 alpha-reductase 3
ISO
ClinVar Annotator: match by term: Hemangioma
ClinVar
PMID:25741868 PMID:28492532 PMID:32483926 PMID:35170016 PMID:35460704
NCBI chr14:32,400,603...32,414,987
Ensembl chr14:32,046,408...32,060,747
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Tsc2
TSC complex subunit 2
ISO
RGD
PMID:10096549
RGD:11568655
NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951
G
Yap1
Yes1 associated transcriptional regulator
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31351048
NCBI chr 8:13,380,551...13,451,640
Ensembl chr 8:5,095,722...5,167,010
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Gja4
gap junction protein, alpha 4
ISO
ClinVar Annotator: match by term: Hepatic hemangioma
ClinVar
PMID:33912852
NCBI chr 5:144,917,791...144,920,324
Ensembl chr 5:139,633,287...139,635,925
G
Tsc2
TSC complex subunit 2
IAGP
DNA:mutations:multiple associated with tuberous sclerosis;DNA:mutations:multiple
RGD
PMID:29512829 PMID:22251200
RGD:21079730 , RGD:21079732
NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951
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A2m
alpha-2-macroglobulin
IEP ISO
mRNA,protein:increased expression:liver: CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:15509519 PMID:15509519
RGD:1358261
NCBI chr 4:156,570,163...156,619,870
Ensembl chr 4:154,897,877...154,947,786
G
Carm1
coactivator-associated arginine methyltransferase 1
IEP
mRNA,protein:increased expression:liver:
RGD
PMID:23912631
RGD:9586718
NCBI chr 8:28,373,370...28,418,056
Ensembl chr 8:20,097,254...20,147,689
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17620307
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
G
Ctnnb1
catenin beta 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21147764
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
G
Cyp2e1
cytochrome P450, family 2, subfamily e, polypeptide 1
treatment
IEP
RGD
PMID:23543859
RGD:14700918
NCBI chr 1:205,269,967...205,280,365
Ensembl chr 1:195,840,058...195,864,023
G
Cyp3a23-3a1
cytochrome P450, family 3, subfamily a, polypeptide 23-polypeptide 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:10959800
NCBI chr12:14,369,950...14,398,803
Ensembl chr12:9,254,475...9,285,030 Ensembl chr12:9,254,475...9,285,030
G
Hnf1a
HNF1 homeobox A
susceptibility exacerbates
IAGP ISO
DNA:loss of heterozygosity, mutations:multiple DNA:mutation: (human) DNA:frameshift mutation, non-sense mutation:cds:R229X, G55fsX57 (human)
RGD
PMID:12355088 PMID:17663417 PMID:14598263
RGD:14700683 , RGD:150530291 , RGD:14700774
NCBI chr12:47,299,171...47,333,457
Ensembl chr12:41,645,587...41,672,104
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Hp
haptoglobin
IEP
RGD
PMID:10569800
RGD:1626391
NCBI chr19:54,449,151...54,453,701
Ensembl chr19:37,539,627...37,544,523
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Hras
HRas proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8200073
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
G
Kras
KRAS proto-oncogene, GTPase
induced
IAGP
aflatoxin B1 induced:DNA:transversion,transition mutations:cds:
RGD
PMID:8446626
RGD:11568697
NCBI chr 4:179,916,255...179,949,613
G
Map3k8
mitogen-activated protein kinase kinase kinase 8
ameliorates
ISO
RGD
PMID:26560698
RGD:11342977
NCBI chr17:58,078,175...58,098,455
Ensembl chr17:53,383,131...53,403,216
G
Mki67
marker of proliferation Ki-67
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:31939706
NCBI chr 1:199,926,150...199,952,847
Ensembl chr 1:190,496,319...190,522,762
G
Nr1h4
nuclear receptor subfamily 1, group H, member 4
ISO
RGD
PMID:17183066
RGD:14696794
NCBI chr 7:25,733,471...25,829,440
Ensembl chr 7:23,846,122...23,942,047
G
Nr1i3
nuclear receptor subfamily 1, group I, member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25656644
NCBI chr13:86,165,327...86,170,362
Ensembl chr13:83,632,899...83,637,906
G
Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:27022031 PMID:15199412
RGD:1302555
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
G
Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISS
MouseDO
NCBI chr12:41,026,079...41,085,577
Ensembl chr12:35,383,144...35,424,925
G
Tmem70
transmembrane protein 70
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27914986
NCBI chr 5:7,420,396...7,438,023
Ensembl chr 5:2,637,102...2,654,729
G
Ube2e2
ubiquitin-conjugating enzyme E2E 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27914986
NCBI chr15:9,411,067...9,688,731
Ensembl chr15:6,980,474...7,257,532
G
Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation | ClinVar Annotator: match by term: FIBROMATOSIS, FAMILIAL INFILTRATIVE | ClinVar Annotator: match by term: Fibromatosis, familial infiltrative CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1338904 PMID:1944466 PMID:2068566 PMID:7485167 PMID:7524601 PMID:7661930 PMID:7833149 PMID:7833931 PMID:8162022 PMID:8162051 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8395941 PMID:8594558 PMID:8730280 PMID:8844222 PMID:8888441 PMID:8940264 PMID:8990002 PMID:9101302 PMID:9342373 PMID:9375853 PMID:9536098 PMID:9585611 PMID:9664575 PMID:9669663 PMID:9824584 PMID:9950360 PMID:10077047 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11001924 PMID:11247896 PMID:11257105 PMID:11317365 PMID:11668620 PMID:11741105 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12010888 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12494469 PMID:12901799 PMID:14523376 PMID:14961559 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16199547 PMID:16292097 PMID:16317745 PMID:16461775 PMID:16650078 PMID:17064931 PMID:17293347 PMID:17411426 PMID:17486639 PMID:17489848 PMID:17576681 PMID:17604324 PMID:17785554 PMID:17963004 PMID:18155426 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19196998 PMID:19279422 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20233475 PMID:20301519 PMID:20333795 PMID:20434453 PMID:20513532 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21153778 PMID:21643010 PMID:21779980 PMID:21859464 PMID:21901162 PMID:21995949 PMID:22135120 PMID:22425061 PMID:22431159 PMID:22447671 PMID:22608206 PMID:22645652 PMID:22703879 PMID:22790147 PMID:22864938 PMID:22987206 PMID:23116752 PMID:23159591 PMID:23460355 PMID:23484150 PMID:23970361 PMID:24033266 PMID:24055113 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25085752 PMID:25142776 PMID:25186627 PMID:25203624 PMID:25318351 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25778705 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25981591 PMID:25992589 PMID:26138249 PMID:26207792 PMID:26300997 PMID:26320869 PMID:26332594 PMID:26446593 PMID:26447891 PMID:26467025 PMID:26493165 PMID:26508446 PMID:26510091 PMID:26517685 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26690363 PMID:26692440 PMID:26845104 PMID:26900293 PMID:26917275 PMID:26976419 PMID:27028212 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27302369 PMID:27443514 PMID:27498913 PMID:27600092 PMID:27621404 PMID:27852271 PMID:27878467 PMID:27978560 PMID:28051113 PMID:28125075 PMID:28127413 PMID:28135145 PMID:28202063 PMID:28283864 PMID:28301460 PMID:28492532 PMID:28502729 PMID:28526081 PMID:28608266 PMID:28726808 PMID:28828701 PMID:28873162 PMID:28944238 PMID:29122597 PMID:29212164 PMID:29237421 PMID:29367705 PMID:29419868 PMID:29510987 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:29961768 PMID:30086788 PMID:30267214 PMID:30374176 PMID:30426508 PMID:30443844 PMID:30458888 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31062380 PMID:31069152 PMID:31111538 PMID:31113927 PMID:31159747 PMID:31175917 PMID:31240473 PMID:31269945 PMID:31278746 PMID:31422818 PMID:31428572 PMID:31570899 PMID:31591141 PMID:31613886 PMID:31854063 PMID:31874108 PMID:31925297 PMID:31937788 PMID:31942411 PMID:32068069 PMID:32187665 PMID:32504335 PMID:32547938 PMID:32980694 PMID:33279946 PMID:33294277 PMID:33309985 PMID:33352971 PMID:33670833 PMID:33769591 PMID:34106356 PMID:34250417 PMID:34326862 PMID:34426522 PMID:34479915 PMID:34666312 PMID:34707284 PMID:34897210 PMID:35142982 PMID:35189564 PMID:35264596 PMID:35430768 PMID:36243179 PMID:36586069 PMID:36898365 PMID:36988593 PMID:37038467 PMID:37577746 PMID:38136308 PMID:38504345 PMID:38874686 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
G
Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation
ClinVar
PMID:9500465 PMID:9927029 PMID:10192393 PMID:10398436 PMID:10435629 PMID:10655994 PMID:25741868 PMID:26822237 More...
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
G
Dagla
diacylglycerol lipase, alpha
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:22241717 PMID:26096992 PMID:28492532
NCBI chr 1:216,315,515...216,372,219
Ensembl chr 1:206,890,638...206,947,232
G
Lrrc10b
leucine rich repeat containing 10B
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:22241717 PMID:26096992 PMID:28492532
NCBI chr 1:207,096,471...207,097,699
Ensembl chr 1:207,022,919...207,098,045
G
Max
MYC associated factor X
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:1459463 PMID:1730412 PMID:7630640 PMID:9115440 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21685915 PMID:22452945 PMID:23551045 PMID:23666964 PMID:25741868 PMID:26070438 PMID:26269449 PMID:26467025 PMID:27838885 PMID:27903915 PMID:28152038 PMID:28384794 PMID:28492532 PMID:28552549 PMID:29909963 PMID:30455982 PMID:30877234 PMID:33367756 PMID:33493868 PMID:33606809 PMID:34130653 PMID:34439168 PMID:35441217 PMID:37529773 PMID:38141607 PMID:39279998 More...
NCBI chr 6:101,369,989...101,395,333
Ensembl chr 6:95,636,858...95,662,137
G
Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:12807974 PMID:17468193 PMID:23342407 PMID:25741868 PMID:28492532
NCBI chr13:86,103,290...86,109,156
Ensembl chr13:83,570,811...83,576,679
G
Myrf
myelin regulatory factor
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:22241717 PMID:26096992 PMID:28492532
NCBI chr 1:216,279,057...216,311,155
Ensembl chr 1:206,854,175...206,886,157
G
Saxo4
stabilizer of axonemal microtubules 4
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:22241717 PMID:26096992 PMID:28492532
NCBI chr 1:216,538,735...216,548,195
Ensembl chr 1:207,113,809...207,122,358
G
Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:11423010 PMID:17298551 PMID:17376234 PMID:20484225 PMID:21858060 PMID:22904323 PMID:22955521 PMID:22974104 PMID:23666964 PMID:24033266 PMID:24781757 PMID:25363768 PMID:25394176 PMID:25720320 PMID:25741868 PMID:26467025 PMID:28384794 PMID:28492532 PMID:28546994 PMID:28714951 PMID:28724664 PMID:28798025 PMID:29177515 PMID:29978154 PMID:30201732 PMID:30680959 PMID:30775854 PMID:30854332 PMID:30877234 PMID:31527833 PMID:31589614 PMID:31981491 PMID:32462735 PMID:32570879 PMID:32581362 PMID:33854214 PMID:34014604 PMID:35059314 PMID:35372080 PMID:36010880 PMID:38473309 More...
NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
G
Sdhaf2
succinate dehydrogenase complex assembly factor 2
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:6264239 PMID:6286462 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19628817 PMID:20071235 PMID:21224366 PMID:21348866 PMID:22241717 PMID:22703879 PMID:23062074 PMID:23666964 PMID:24033266 PMID:24414418 PMID:24712571 PMID:25394176 PMID:25741868 PMID:26016412 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27600092 PMID:28099933 PMID:28492532 PMID:28892078 PMID:29641532 PMID:30050099 PMID:30306255 PMID:31666924 PMID:31687641 PMID:32741965 PMID:32830346 PMID:32887801 PMID:33748650 PMID:35441217 PMID:35668420 PMID:36495689 PMID:36597280 PMID:36841802 PMID:38473309 More...
NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
G
Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 PMID:11897817 PMID:12000816 PMID:12213855 PMID:12362046 PMID:12364472 PMID:12560550 PMID:12618761 PMID:12807974 PMID:13129931 PMID:14500403 PMID:14685938 PMID:14715873 PMID:14974914 PMID:14985401 PMID:15235042 PMID:15328326 PMID:15476441 PMID:15531530 PMID:15987702 PMID:15988378 PMID:15989954 PMID:16080530 PMID:16103922 PMID:16199547 PMID:16258955 PMID:16288654 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16472267 PMID:16912137 PMID:16916404 PMID:16982587 PMID:17102082 PMID:17102083 PMID:17102084 PMID:17143317 PMID:17200167 PMID:17298551 PMID:17308434 PMID:17376234 PMID:17487275 PMID:17538171 PMID:17576681 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17884808 PMID:17943698 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18502330 PMID:18519664 PMID:18551016 PMID:18678321 PMID:18728283 PMID:18753105 PMID:18840642 PMID:19001511 PMID:19064958 PMID:19075037 PMID:19153209 PMID:19184535 PMID:19189136 PMID:19215943 PMID:19258401 PMID:19261994 PMID:19351833 PMID:19368708 PMID:19389109 PMID:19393419 PMID:19399650 PMID:19411806 PMID:19415531 PMID:19454582 PMID:19522823 PMID:19576851 PMID:19596260 PMID:19694205 PMID:19763184 PMID:19768395 PMID:19802898 PMID:19825962 PMID:19927285 PMID:20119652 PMID:20208144 PMID:20213850 PMID:20418362 PMID:20459544 PMID:20503330 PMID:20505258 PMID:20540712 PMID:20583550 PMID:20592014 PMID:20605972 PMID:20614293 PMID:20923864 PMID:20960097 PMID:20981092 PMID:21172883 PMID:21173220 PMID:21348866 PMID:21520333 PMID:21561462 PMID:21565294 PMID:21784903 PMID:21820839 PMID:21822798 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22041710 PMID:22109755 PMID:22241717 PMID:22270996 PMID:22293219 PMID:22429592 PMID:22492777 PMID:22517554 PMID:22517557 PMID:22573489 PMID:22584711 PMID:22677546 PMID:22703879 PMID:22829200 PMID:22835832 PMID:22904323 PMID:22938532 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23318864 PMID:23407919 PMID:23434467 PMID:23512077 PMID:23640968 PMID:23666964 PMID:23735539 PMID:23797725 PMID:23902947 PMID:23934599 PMID:24033266 PMID:24055113 PMID:24092654 PMID:24096523 PMID:24102379 PMID:24134185 PMID:24276837 PMID:24395865 PMID:24436918 PMID:24466223 PMID:24509376 PMID:24523625 PMID:24606901 PMID:24623741 PMID:24659481 PMID:24728327 PMID:24735130 PMID:24781345 PMID:24939699 PMID:25025441 PMID:25047027 PMID:25151137 PMID:25215250 PMID:25298897 PMID:25326637 PMID:25333069 PMID:25371406 PMID:25376524 PMID:25394176 PMID:25494863 PMID:25595276 PMID:25637381 PMID:25683602 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25736212 PMID:25741868 PMID:25791839 PMID:25873086 PMID:25972245 PMID:26071763 PMID:26092435 PMID:26096992 PMID:26102504 PMID:26173966 PMID:26182300 PMID:26198225 PMID:26236513 PMID:26259135 PMID:26269449 PMID:26273102 PMID:26283294 PMID:26302408 PMID:26332594 PMID:26370861 PMID:26467025 PMID:26556299 PMID:26642834 PMID:26719882 PMID:26749241 PMID:26916530 PMID:26960314 PMID:27011036 PMID:27159321 PMID:27171833 PMID:27279923 PMID:27539324 PMID:27542510 PMID:27549546 PMID:27573198 PMID:27604842 PMID:27634942 PMID:27785149 PMID:27819762 PMID:27867439 PMID:27882345 PMID:27974047 PMID:28070496 PMID:28152038 PMID:28179334 PMID:28220018 PMID:28229225 PMID:28255624 PMID:28284009 PMID:28324028 PMID:28349240 PMID:28369925 PMID:28374168 PMID:28409892 PMID:28469506 PMID:28490599 PMID:28492532 PMID:28503760 PMID:28646318 PMID:28738844 PMID:28784873 PMID:28819017 PMID:28873162 PMID:28891197 PMID:28944243 PMID:28973655 PMID:29386252 PMID:29504908 PMID:29510530 PMID:29623478 PMID:29684080 PMID:29909963 PMID:29925701 PMID:29951630 PMID:30050099 PMID:30087776 PMID:30122763 PMID:30152102 PMID:30201732 PMID:30352407 PMID:30536464 PMID:30658386 PMID:30877234 PMID:31194233 PMID:31212687 PMID:31216007 PMID:31308404 PMID:31365623 PMID:31492822 PMID:31579262 PMID:31666924 PMID:31705439 PMID:31780696 PMID:31883676 PMID:32023584 PMID:32035780 PMID:32124427 PMID:32460727 PMID:32462735 PMID:32661476 PMID:32688340 PMID:32741965 PMID:32782288 PMID:32859697 PMID:32863293 PMID:32963463 PMID:32971818 PMID:33219105 PMID:33300499 PMID:33362715 PMID:33391357 PMID:33397040 PMID:33420946 PMID:33558524 PMID:33564614 PMID:33628464 PMID:33748650 PMID:34069252 PMID:34072806 PMID:34095481 PMID:34118692 PMID:34255389 PMID:34308366 PMID:34309460 PMID:34326862 PMID:34377882 PMID:34426522 PMID:34439168 PMID:34439371 PMID:34452955 PMID:34466344 PMID:34654328 PMID:34703596 PMID:34750850 PMID:34906457 PMID:34939938 PMID:35060925 PMID:35127314 PMID:35171114 PMID:35441217 PMID:35460558 PMID:35546442 PMID:35673401 PMID:35739278 PMID:35869040 PMID:35870552 PMID:35904169 PMID:36200007 PMID:36387130 PMID:36597280 PMID:36786389 PMID:38473309 More...
NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293
G
Sdhc
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:9536098 PMID:11062460 PMID:12658451 PMID:12807974 PMID:15989954 PMID:16199547 PMID:16249420 PMID:17298551 PMID:17468193 PMID:17576681 PMID:17636259 PMID:17667967 PMID:17804857 PMID:17898811 PMID:18212813 PMID:18491383 PMID:19245779 PMID:19332149 PMID:19351833 PMID:19454582 PMID:19546167 PMID:21106325 PMID:21173220 PMID:21822798 PMID:22517554 PMID:22517557 PMID:22703879 PMID:22829200 PMID:22868853 PMID:23083876 PMID:23162105 PMID:23175444 PMID:23282968 PMID:23342407 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24096523 PMID:24102379 PMID:24150194 PMID:24402737 PMID:24423348 PMID:24466223 PMID:24523625 PMID:24625421 PMID:24728327 PMID:24758179 PMID:24781345 PMID:25024072 PMID:25025441 PMID:25394176 PMID:25494863 PMID:25637381 PMID:25741868 PMID:25950479 PMID:26173966 PMID:26198225 PMID:26259135 PMID:26273102 PMID:26467025 PMID:27153395 PMID:27262318 PMID:27279923 PMID:27700540 PMID:27867439 PMID:27913608 PMID:28202063 PMID:28412079 PMID:28492532 PMID:28819017 PMID:28873162 PMID:29305721 PMID:29386252 PMID:29504908 PMID:29641532 PMID:29878124 PMID:30050099 PMID:30201732 PMID:30548481 PMID:30583724 PMID:30877234 PMID:31194233 PMID:31308404 PMID:31666924 PMID:32035780 PMID:32688340 PMID:32751108 PMID:33332384 PMID:33676450 PMID:33748650 PMID:34110302 PMID:34301805 PMID:34308366 PMID:34558728 PMID:34703596 PMID:34750850 PMID:35171114 PMID:35441217 PMID:35739278 PMID:36045543 PMID:36091175 PMID:36198483 PMID:36449569 More...
NCBI chr13:86,077,133...86,098,025
Ensembl chr13:83,544,652...83,566,253
G
Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11605159 PMID:11897812 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12114404 PMID:12218630 PMID:12364472 PMID:12386824 PMID:12509798 PMID:12696072 PMID:12782822 PMID:12807974 PMID:12811540 PMID:14557476 PMID:14974914 PMID:15066320 PMID:15235042 PMID:15328326 PMID:15479192 PMID:15531530 PMID:15623805 PMID:15774781 PMID:15905695 PMID:16061558 PMID:16080474 PMID:16199547 PMID:16314641 PMID:16317055 PMID:17102085 PMID:17208193 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17973943 PMID:18414213 PMID:18551016 PMID:18678321 PMID:18692411 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19454582 PMID:19584903 PMID:19802898 PMID:19825962 PMID:20111059 PMID:20301715 PMID:20418362 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22170724 PMID:22241717 PMID:22290790 PMID:22382802 PMID:22456618 PMID:22517554 PMID:22566157 PMID:22566194 PMID:22575350 PMID:22703879 PMID:22829200 PMID:23083876 PMID:23175444 PMID:23433498 PMID:23512077 PMID:23586964 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24367056 PMID:24436918 PMID:24728327 PMID:24758185 PMID:25014000 PMID:25058219 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25328978 PMID:25494863 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25741136 PMID:25741868 PMID:25758995 PMID:25791839 PMID:25819804 PMID:25985138 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27073498 PMID:27153395 PMID:27279923 PMID:27634942 PMID:27700540 PMID:27856506 PMID:27867439 PMID:27913608 PMID:28128698 PMID:28164237 PMID:28179334 PMID:28492532 PMID:28552549 PMID:28873162 PMID:28975465 PMID:28977582 PMID:29386252 PMID:29504908 PMID:29510530 PMID:29545045 PMID:29625052 PMID:29681642 PMID:29777207 PMID:29792313 PMID:29875428 PMID:30050099 PMID:30093976 PMID:30273935 PMID:30375904 PMID:30484866 PMID:30877234 PMID:30951038 PMID:31104306 PMID:31194233 PMID:31194241 PMID:31492822 PMID:31508186 PMID:31666924 PMID:31834447 PMID:32035780 PMID:32098148 PMID:32472550 PMID:32561571 PMID:32659967 PMID:32741965 PMID:32971818 PMID:33219105 PMID:33391357 PMID:33748650 PMID:34072806 PMID:34439168 PMID:34750850 PMID:34877445 PMID:34906457 PMID:34907111 PMID:35626065 PMID:35668420 PMID:35739269 PMID:35938916 PMID:35966080 PMID:38144572 More...
NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:50,944,704...50,954,238
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Syt7
synaptotagmin 7
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:22241717 PMID:26096992 PMID:28492532
NCBI chr 1:216,456,148...216,518,718
Ensembl chr 1:207,031,592...207,089,026
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Tmem127
transmembrane protein 127
ISO
ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes
ClinVar
PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 PMID:20923864 PMID:21156949 PMID:21613359 PMID:22136840 PMID:22419703 PMID:22517554 PMID:22541004 PMID:23666964 PMID:24033266 PMID:24334765 PMID:24694336 PMID:25389632 PMID:25637381 PMID:25741868 PMID:25800244 PMID:26267327 PMID:26269449 PMID:26467025 PMID:26960314 PMID:27153395 PMID:28384794 PMID:28458909 PMID:28492532 PMID:28567294 PMID:28646318 PMID:28717660 PMID:28855235 PMID:29282712 PMID:29625052 PMID:29909963 PMID:30113886 PMID:30246500 PMID:30877234 PMID:31666924 PMID:32575117 PMID:32877928 PMID:32994724 PMID:33051659 PMID:33219105 PMID:34308366 PMID:34439168 PMID:34870338 PMID:35189708 PMID:36451132 PMID:36655350 More...
NCBI chr 3:134,919,416...134,932,210
Ensembl chr 3:114,466,171...114,477,519
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Klrk1
killer cell lectin like receptor K1
treatment
IDA
RGD
PMID:15048723
RGD:9685182
NCBI chr 4:164,767,377...164,778,453
Ensembl chr 4:163,081,927...163,092,459
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B3galt2
Beta-1,3-galactosyltransferase 2
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors
ClinVar
PMID:25637381
NCBI chr13:57,939,724...57,948,735
Ensembl chr13:55,389,406...55,398,419
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Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 PMID:15613436 PMID:17065424 PMID:20052758 PMID:20301744 PMID:21652691 PMID:25637381 PMID:25741868 PMID:28492532 PMID:29641532 More...
NCBI chr13:57,897,924...58,000,031
Ensembl chr13:55,357,226...55,449,656
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Cd28
Cd28 molecule
ISO
ClinVar Annotator: match by term: Immunodeficiency 123 with HPV-related verrucosis
OMIM ClinVar
NCBI chr 9:69,660,316...69,689,192
Ensembl chr 9:62,166,192...62,194,685
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Rhoh
ras homolog family member H
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 4 | ClinVar Annotator: match by term: RHOH-related condition
OMIM ClinVar
PMID:22850876 PMID:25741868 PMID:28492532 PMID:38775840
NCBI chr14:42,694,860...42,725,690
Ensembl chr14:42,337,751...42,386,369
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Il7
interleukin 7
ISO
ClinVar Annotator: match by term: Epidermodysplasia verruciformis, susceptibility to, 5 | ClinVar Annotator: match by term: IL7-related condition
OMIM ClinVar
PMID:25741868 PMID:25981006 PMID:28492532 PMID:31900472 PMID:39352394
NCBI chr 2:96,142,523...96,186,282
Ensembl chr 2:94,234,766...94,280,075
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Antxr1
ANTXR cell adhesion molecule 1
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Capillary infantile hemangioma
CTD OMIM ClinVar
PMID:18931684 PMID:25741868 PMID:28492532
NCBI chr 4:121,148,102...121,335,549
Ensembl chr 4:119,590,771...119,778,232
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Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar
PMID:25741868
NCBI chr 2:17,570,449...17,591,078
Ensembl chr 2:15,834,833...15,855,819
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:123,855,289...123,984,716
Ensembl chr 2:121,927,942...122,056,707
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Flt4
Fms related receptor tyrosine kinase 4
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY
OMIM CTD ClinVar
PMID:11807987 PMID:25741868 PMID:28492532
NCBI chr10:34,414,834...34,455,878
Ensembl chr10:33,913,608...33,954,770
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Kdr
kinase insert domain receptor
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: KDR-related condition
CTD OMIM ClinVar
PMID:11807987 PMID:18931684 PMID:24033266 PMID:24728327 PMID:25741868 PMID:28492532 More...
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Myh9
myosin, heavy chain 9
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar
PMID:28492532
NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:109,343,706...109,424,457
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Rasa1
RAS p21 protein activator 1
ISO
ClinVar Annotator: match by term: Capillary infantile hemangioma
ClinVar
PMID:25741868
NCBI chr 2:17,593,136...17,676,707
Ensembl chr 2:15,857,980...15,940,854
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Slc2a1
solute carrier family 2 member 1
ISO
RGD
PMID:17554865
RGD:12879502
NCBI chr 5:138,002,522...138,030,742
Ensembl chr 5:132,717,196...132,745,416
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Vegfa
vascular endothelial growth factor A
disease_progression
ISO
RGD
PMID:26957058
RGD:155663370
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Notch3
notch receptor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,133,706...11,184,025
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Pdgfrb
platelet derived growth factor receptor beta
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital generalized fibromatosis | ClinVar Annotator: match by term: Infantile myofibromatosis | ClinVar Annotator: match by term: Myofibromatosis, juvenile OMIM:228550 | OMIM:615293
CTD ClinVar MouseDO
PMID:9536098 PMID:12181311 PMID:15054839 PMID:16199547 PMID:17576681 PMID:23731537 PMID:23731542 PMID:24796542 PMID:25292412 PMID:25356970 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28417142 PMID:28492532 PMID:28639748 PMID:28726812 PMID:30573803 PMID:30941910 PMID:31004414 PMID:31017643 PMID:31064749 PMID:31474318 PMID:34494111 PMID:39580648 More...
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
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Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Myofibromatosis, infantile, 1
ClinVar
PMID:23731542
NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,133,706...11,184,025
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Pdgfrb
platelet derived growth factor receptor beta
ISO
ClinVar Annotator: match by term: Myofibromatosis, infantile, 1
OMIM ClinVar
PMID:12181311 PMID:15054839 PMID:23731537 PMID:23731542 PMID:25292412 PMID:25741868 PMID:26455322 PMID:28183292 PMID:28334876 PMID:28492532 PMID:28639748 PMID:30941910 PMID:31004414 PMID:31474318 PMID:39580648 More...
NCBI chr18:56,770,348...56,809,228
Ensembl chr18:54,499,964...54,538,843
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Notch3
notch receptor 3
ISO
ClinVar Annotator: match by term: Myofibromatosis, infantile, 2
OMIM ClinVar
PMID:3484396 PMID:8878478 PMID:9388399 PMID:10227618 PMID:10371548 PMID:10854111 PMID:10969905 PMID:11102981 PMID:11486103 PMID:11715067 PMID:11755616 PMID:11757773 PMID:11771160 PMID:12146805 PMID:12482954 PMID:12754354 PMID:12810003 PMID:15229130 PMID:15350543 PMID:15364702 PMID:15378071 PMID:15834039 PMID:15857853 PMID:15995828 PMID:16009764 PMID:16580020 PMID:17122431 PMID:17390743 PMID:17879445 PMID:17879447 PMID:18384453 PMID:18803652 PMID:18948701 PMID:19006080 PMID:19174371 PMID:19359623 PMID:19417009 PMID:19542611 PMID:19576955 PMID:19825845 PMID:20038773 PMID:20071773 PMID:20301673 PMID:20935329 PMID:21616505 PMID:21737310 PMID:21786151 PMID:21940951 PMID:22006983 PMID:22019870 PMID:22153900 PMID:22218279 PMID:22373597 PMID:22623959 PMID:22664156 PMID:22795385 PMID:23584202 PMID:23731542 PMID:23844775 PMID:24033266 PMID:24086431 PMID:24425116 PMID:24886907 PMID:25260786 PMID:25344745 PMID:25412914 PMID:25604251 PMID:25623805 PMID:25741868 PMID:25801821 PMID:25819272 PMID:25929831 PMID:25980907 PMID:26261665 PMID:26305465 PMID:26467025 PMID:26646783 PMID:26806700 PMID:27350778 PMID:27844030 PMID:27881154 PMID:27890607 PMID:28334938 PMID:28479817 PMID:28492532 PMID:28534048 PMID:28710804 PMID:28815929 PMID:28991717 PMID:30311053 PMID:30956055 PMID:31418856 PMID:31433517 PMID:31589614 PMID:31998484 PMID:32172663 PMID:32277177 PMID:32555735 PMID:32581362 PMID:32732295 PMID:32765252 PMID:32912545 PMID:34008892 PMID:34297860 PMID:34335700 PMID:34851492 PMID:35754959 PMID:35775048 PMID:35822697 PMID:35906014 PMID:36261288 PMID:36401683 PMID:37476306 PMID:37873835 More...
NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,133,706...11,184,025
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Adm
adrenomedullin
ISO
protein:increased expression:pancreas, plasma
RGD
PMID:11331218
RGD:2325319
NCBI chr 1:174,164,178...174,182,372
Ensembl chr 1:164,745,466...164,747,654
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Btc
betacellulin
ISO
protein:increased expression:pancreas
RGD
PMID:10724350
RGD:2326087
NCBI chr14:16,708,447...16,746,961
Ensembl chr14:16,707,982...16,747,049
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Cd40
CD40 molecule
ISO
RGD
PMID:17982058
RGD:5491180
NCBI chr 3:174,209,113...174,224,592
Ensembl chr 3:153,790,449...153,805,534
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Cux1
cut-like homeobox 1
disease_progression exacerbates
ISO
mRNA:increased expression:pancreas (mouse) protein:increased expression:pancreas (human)
RGD
PMID:25248790 PMID:25248790
RGD:152985543 , RGD:152985543
NCBI chr12:25,728,393...26,062,497
Ensembl chr12:20,107,311...20,425,866 Ensembl chr 4:20,107,311...20,425,866
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Cxcl12
C-X-C motif chemokine ligand 12
ISO
protein:increased expression:pancreas
RGD
PMID:19013212
RGD:2317608
NCBI chr 4:152,060,781...152,073,628
Ensembl chr 4:150,388,325...150,401,168
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Ins2
insulin 2
ISO
protein:altered expression:blood protein:altered localization:pancreas
RGD
PMID:8175958 PMID:2565624
RGD:2317266 , RGD:2317268
NCBI chr 1:207,272,738...207,421,998
Ensembl chr 1:197,843,281...197,864,775
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Men1
menin 1
disease_progression
ISO
DNA:deletion:exon CTD Direct Evidence: marker/mechanism DNA:deletions:exons
CTD RGD
PMID:17961653 PMID:12941803 PMID:20138042 PMID:19208834
RGD:2317292 , RGD:2317288 , RGD:2317310
NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871
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Ncam1
neural cell adhesion molecule 1
ISO
protein:increased expression:pancreas
RGD
PMID:8972754
RGD:2326080
NCBI chr 8:58,762,088...59,062,131
Ensembl chr 8:49,865,633...50,166,014
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Rps15
ribosomal protein S15
IEP
RGD
PMID:3019805
RGD:61740
NCBI chr 7:10,066,572...10,068,167
Ensembl chr 7:9,416,004...9,417,450 Ensembl chr 7:9,416,004...9,417,450
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Slc2a2
solute carrier family 2 member 2
ISO
protein:increased expression:pancreatic B cell mRNA:decreased expression:pancreatic islet
RGD
PMID:12114701 PMID:8421107
RGD:2324976 , RGD:2324977
NCBI chr 2:113,537,884...113,568,422
Ensembl chr 2:111,611,774...111,639,933
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Tgfa
transforming growth factor alpha
ISO
protein:increased expression:pancreas
RGD
PMID:8712689
RGD:2317472
NCBI chr 4:120,175,549...120,258,342
Ensembl chr 4:118,618,269...118,700,894
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Tgfb1
transforming growth factor, beta 1
ISO
mRNA, protein:decreased expression:pancreatic islet
RGD
PMID:18058603
RGD:2325017
NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:81,196,532...81,212,847
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Intrahepatic cholangiocarcinoma
ClinVar
PMID:24728327 PMID:25479140 PMID:25741868 PMID:26467025 PMID:26530882 PMID:28135048 PMID:28195569 PMID:28492532 PMID:32390703 More...
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Arid1a
AT-rich interaction domain 1A
disease_progression exacerbates
ISO
mRNA,protein:decreased expression:intrahepatic bile duct (human)
RGD
PMID:30849962 PMID:27433094 PMID:31665232
RGD:14974231 , RGD:126775257 , RGD:126781775
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564
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Bap1
BRCA1 associated deubiquitinase 1
disease_progression
ISO
RGD
PMID:27864835
RGD:150340628
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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Becn1
beclin 1
disease_progression
ISO
RGD
PMID:30849962
RGD:14974231
NCBI chr10:86,731,649...86,747,002
Ensembl chr10:86,231,388...86,246,742
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Braf
B-Raf proto-oncogene, serine/threonine kinase
severity
IAGP
DNA:missense mutation:cds:p.V600E (human)
RGD
PMID:24139215
RGD:14398746
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Fas
Fas cell surface death receptor
disease_progression
ISO
RGD
PMID:11003620
RGD:14700701
NCBI chr 1:241,212,155...241,245,774
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
severity
ISO
RGD
PMID:11003620
RGD:14700701
NCBI chr13:76,680,885...76,706,042
Ensembl chr13:74,154,954...74,162,215
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Foxp3
forkhead box P3
IDA
DNA:hypomethylation:liver
RGD
PMID:24291052
RGD:38599002
NCBI chr X:17,580,380...17,601,181
Ensembl chr X:14,908,494...14,923,838
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Hsp90aa1
heat shock protein 90 alpha family class A member 1
disease_progression
ISO
protein:increased expression:liver (human)
RGD
PMID:24796583
RGD:152177907
NCBI chr 6:135,523,604...135,529,687
Ensembl chr 6:129,702,383...129,707,268
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Hsp90ab1
heat shock protein 90 alpha family class B member 1
disease_progression
ISO
protein:increased expression:liver (human)
RGD
PMID:24796583
RGD:152177907
NCBI chr 9:22,930,249...22,935,929
Ensembl chr 9:15,433,691...15,438,488
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Idh1
isocitrate dehydrogenase (NADP(+)) 1
no_association
ISO
DNA:misssense mutations:cds:p.Arg132Cys,Arg132Leu (human)
RGD
PMID:26245674
RGD:14974229
NCBI chr 9:74,027,887...74,057,442
Ensembl chr 9:66,534,146...66,563,708
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Idh2
isocitrate dehydrogenase (NADP(+)) 2
disease_progression
ISO
DNA:mutations: : mRNA:decreased expression:liver (mouse)
RGD
PMID:22824796 PMID:32463951
RGD:14985256 , RGD:149735894
NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025
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Kdm5c
lysine demethylase 5C
exacerbates
ISO
protein:decreased expression:bile duct (human)
RGD
PMID:32714863
RGD:151361175
NCBI chr X:24,821,568...24,866,423
Ensembl chr X:21,345,481...21,381,870
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Kras
KRAS proto-oncogene, GTPase
disease_progression
ISS ISO
DNA:mutations::
MouseDO RGD
PMID:24139215
RGD:14398746
NCBI chr 4:179,916,255...179,949,613
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Lcn2
lipocalin 2
treatment
IDA ISO
Protein:increased expression:bile duct
RGD
PMID:24939880 PMID:24939880
RGD:126790491 , RGD:126790491
NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:15,680,687...15,684,095
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Lrp1b
LDL receptor related protein 1B
exacerbates
ISO
DNA:mutations:multiple: (human)
RGD
PMID:33014052
RGD:150429786
NCBI chr 3:45,004,001...47,125,147
Ensembl chr 3:24,594,991...26,715,505
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Magi1
membrane associated guanylate kinase, WW and PDZ domain containing 1
disease_progression
ISO
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:30377796
RGD:152998946
NCBI chr 4:127,762,590...128,368,228
Ensembl chr 4:126,206,816...126,811,691
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Mir152
microRNA 152
ISO
miRNA:decreased expression:intrahepatic bile duct
RGD
PMID:28921383
RGD:19165148
NCBI chr10:82,329,383...82,329,467
Ensembl chr10:81,832,936...81,833,020
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Mir200b
microRNA 200b
ISO
RNA:increased expression:liver
RGD
PMID:27685844
RGD:14928335
NCBI chr 5:171,931,495...171,931,589
Ensembl chr 5:166,649,272...166,649,366
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Mir21
microRNA 21
ISO
RNA:increased expression:liver,plasma
RGD
PMID:27685844
RGD:14928335
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
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Mir221
microRNA 221
severity
ISO
RGD
PMID:27685844
RGD:14928335
NCBI chr X:6,023,182...6,023,290
Ensembl chr X:3,429,465...3,429,573
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Pbrm1
polybromo 1
disease_progression
ISO
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:30377796 PMID:27864835
RGD:152998946 , RGD:150340628
NCBI chr16:6,219,933...6,319,336
Ensembl chr16:6,213,300...6,311,780
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Pten
phosphatase and tensin homolog
disease_progression
ISO
protein:decreased expression:liver (human)
RGD
PMID:24796583
RGD:152177907
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Rnf43
ring finger protein 43
exacerbates
ISO
mRNA, protein:decreased expression:liver, bile duct epithelium (human)
RGD
PMID:26980022
RGD:151361125
NCBI chr10:72,958,744...73,034,540
Ensembl chr10:72,464,348...72,536,977
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Runx1
RUNX family transcription factor 1
ISO
mRNA:increased expression:intrahepatic bile duct
RGD
PMID:31015363
RGD:126775143
NCBI chr11:45,325,778...45,560,300
Ensembl chr11:31,843,764...32,074,542
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S100b
S100 calcium binding protein B
disease_progression
ISO
protein:increased expression:intrahepatic bile duct (human)
RGD
PMID:30377796
RGD:152998946
NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,881...12,394,743
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Smad4
SMAD family member 4
disease_progression
ISO
mRNA,protein:decreased expression:intrahepatic bile duct
RGD
PMID:16917866 PMID:23981608
RGD:18936999 , RGD:21066336
NCBI chr18:69,518,988...69,549,684
Ensembl chr18:67,243,742...67,274,438
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Tep1
telomerase associated protein 1
ISO
mRNA:increased expression:hepatocyte,biliary epithelium.
RGD
PMID:10498642
RGD:152977753
NCBI chr15:26,519,429...26,567,073
Ensembl chr15:24,045,878...24,093,526
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Terc
telomerase RNA component
ISO
RNA:increased expression:hepatocyte,biliary epithelium.
RGD
PMID:10498642
RGD:152977753
NCBI chr 2:114,744,148...114,744,535
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:14517397
RGD:8655667
NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221
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Gna14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Kaposiform hemangioendothelioma
ClinVar
PMID:25741868 PMID:27476652
NCBI chr 1:223,141,802...223,324,210
Ensembl chr 1:213,716,020...213,897,423
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Mtor
mechanistic target of rapamycin kinase
treatment
ISO
associated with Tuberous Sclerosis
RGD
PMID:23054313
RGD:7245506
NCBI chr 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Klatskin tumor
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Arid1a
AT-rich interaction domain 1A
disease_progression
ISO
DNA:deletions
RGD
PMID:33387086
RGD:126848756
NCBI chr 5:151,192,014...151,269,291
Ensembl chr 5:145,908,181...145,985,564
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Gata6
GATA binding protein 6
sexual_dimorphism
ISO
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,188,121...2,219,532
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Kmt2c
lysine methyltransferase 2C
onset
ISO
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr 4:10,353,698...10,755,965
Ensembl chr 4:9,609,627...9,833,539
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Kras
KRAS proto-oncogene, GTPase
disease_progression
ISO
DNA:mutations
RGD
PMID:33387086
RGD:126848756
NCBI chr 4:179,916,255...179,949,613
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Prex2
phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
sexual_dimorphism
ISO
DNA:substitutions, insertion/deletions: (human)
RGD
PMID:33387086 PMID:33387086
RGD:126848756 , RGD:126848756
NCBI chr 5:12,720,683...13,036,077
Ensembl chr 5:7,942,573...8,253,068
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Fh
fumarate hydratase
ISO
ClinVar Annotator: match by term: Multiple cutaneous leiomyomas
ClinVar
PMID:2314594 PMID:9300800 PMID:9635293 PMID:11865300 PMID:12761039 PMID:12772087 PMID:15937070 PMID:15987702 PMID:16151915 PMID:16237213 PMID:16510303 PMID:16575891 PMID:16597677 PMID:16639410 PMID:18313410 PMID:20301679 PMID:21051878 PMID:21304509 PMID:21398687 PMID:21404119 PMID:21445611 PMID:21520333 PMID:21560188 PMID:22069215 PMID:22528940 PMID:22595425 PMID:22703879 PMID:23211287 PMID:23612258 PMID:24182348 PMID:24334767 PMID:24441663 PMID:24684806 PMID:24728327 PMID:25004247 PMID:25741868 PMID:25985877 PMID:26457356 PMID:26467025 PMID:26945337 PMID:27377421 PMID:27541980 PMID:28300276 PMID:28371217 PMID:28492532 PMID:28518168 PMID:28825054 PMID:28873162 PMID:29052812 PMID:29423582 PMID:29641532 PMID:29684080 PMID:29893455 PMID:29909963 PMID:30741757 PMID:30877234 PMID:31162287 PMID:31444830 PMID:31794323 PMID:31831373 PMID:32008151 PMID:32012241 PMID:32461654 PMID:32612247 PMID:32782288 PMID:32808982 PMID:32999401 PMID:33052056 PMID:33063682 PMID:33166576 PMID:33439686 PMID:33789101 PMID:33858029 PMID:33927380 PMID:34196900 PMID:34308104 PMID:34337822 PMID:34654685 PMID:34994643 PMID:35441217 PMID:35626031 PMID:35993574 PMID:36315513 PMID:36773955 PMID:36777509 PMID:37095444 PMID:37430226 PMID:38539105 More...
NCBI chr13:90,056,565...90,082,450
Ensembl chr13:87,524,337...87,550,266
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Amhr2
anti-Mullerian hormone receptor type 2
ISO
protein:increased expression:myometrium
RGD
PMID:17988723
RGD:2315651
NCBI chr 7:135,454,517...135,470,183
Ensembl chr 7:133,579,393...133,588,258
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
associated with Myometrial Neoplasms;protein:increased expression:myometrium
RGD
PMID:18156978
RGD:2296049
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Leiomyosarcoma
ClinVar
PMID:10617473 PMID:11053450 PMID:11479205 PMID:11719428 PMID:11967536 PMID:12094328 PMID:12533788 PMID:12690581 PMID:14648717 PMID:14648718 PMID:14648719 PMID:15087378 PMID:15095295 PMID:15122511 PMID:15466005 PMID:15488637 PMID:15492928 PMID:15520402 PMID:16257342 PMID:16492927 PMID:16880452 PMID:17085682 PMID:18172190 PMID:18381420 PMID:18759107 PMID:19338683 PMID:19768534 PMID:19805189 PMID:21779515 PMID:21807500 PMID:21876083 PMID:21956126 PMID:22006311 PMID:22058428 PMID:22419737 PMID:22811390 PMID:22994785 PMID:23109706 PMID:23469205 PMID:23652375 PMID:23946381 PMID:24033266 PMID:24713400 PMID:24884479 PMID:25431674 PMID:25583358 PMID:25741868 PMID:26467025 PMID:26845104 PMID:26884562 PMID:26976419 PMID:27223485 PMID:27269948 PMID:27433846 PMID:27711073 PMID:27751358 PMID:27798748 PMID:28135145 PMID:28195393 PMID:28492532 PMID:28503720 PMID:28514723 PMID:28727877 PMID:28734145 PMID:28779002 PMID:28802053 PMID:28874143 PMID:29351919 PMID:29489754 PMID:29522266 PMID:29909568 PMID:31300551 PMID:31993860 PMID:32119081 PMID:32285038 PMID:32295079 PMID:32383162 PMID:32531112 PMID:33471991 PMID:35534704 PMID:36222830 PMID:36623239 PMID:36744932 PMID:37055167 PMID:37149759 More...
NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286
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Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9774950
NCBI chr10:84,157,485...84,159,860
Ensembl chr10:83,661,207...83,663,603
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Dmd
dystrophin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24793134
NCBI chr X:51,070,098...53,437,845
Ensembl chr X:47,272,331...49,504,207
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Flt1
Fms related receptor tyrosine kinase 1
severity
ISO
Uterine
RGD
PMID:15823121
RGD:2289964
NCBI chr12:12,333,050...12,504,750
Ensembl chr12:7,297,292...7,468,626
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Hmga1
high mobility group AT-hook 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18645019
NCBI chr20:5,612,902...5,620,596
Ensembl chr20:5,611,694...5,618,752
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
Uterine
RGD
PMID:17367465
RGD:2292170
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
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Med12
mediator complex subunit 12
ISO
DNA:missense mutations:cds:
RGD
PMID:26891131
RGD:11353203
NCBI chr X:70,444,615...70,467,780
Ensembl chr X:66,404,760...66,428,387
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18645019
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Tert
telomerase reverse transcriptase
ISO
mRNA:increased expression:myometrium
RGD
PMID:10652422
RGD:2298564
NCBI chr 1:31,465,766...31,488,650
Ensembl chr 1:29,637,506...29,659,561
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Usp18
ubiquitin specific peptidase 18
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26555296
NCBI chr 4:156,143,770...156,171,292
Ensembl chr 4:154,471,592...154,499,144
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Xrn2
5'-3' exoribonuclease 2
ISO
mRNA:increased expression:uterus (human)
RGD
PMID:24485798
RGD:11041788
NCBI chr 3:154,888,558...154,962,519
Ensembl chr 3:134,437,109...134,509,306
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Plag1
PLAG1 zinc finger
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16308870
NCBI chr 5:21,699,650...21,754,325
Ensembl chr 5:16,905,394...16,913,647
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Bap1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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Hmga2
high mobility group AT-hook 2
ISO
RGD
PMID:7606786
RGD:1601567
NCBI chr 7:57,762,710...57,884,555
Ensembl chr 7:55,880,112...55,994,784
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Men1
menin 1
ISO
ClinVar Annotator: match by term: Lipoma, somatic
ClinVar
PMID:9103196 PMID:9215690 PMID:9463336 PMID:9498491 PMID:9671267 PMID:9683585 PMID:10576763 PMID:10594843 PMID:10664520 PMID:10856877 PMID:12112656 PMID:14641000 PMID:15635078 PMID:17065424 PMID:17623761 PMID:17853334 PMID:17879353 PMID:17953629 PMID:18045958 PMID:20833329 PMID:23093699 PMID:24033266 PMID:24599222 PMID:24915123 PMID:25309785 PMID:25741868 PMID:26467025 PMID:27572829 PMID:28492532 PMID:28870973 PMID:28968916 PMID:29036195 PMID:30324798 PMID:30795813 PMID:35448982 PMID:35534704 PMID:35538538 PMID:35668420 PMID:35965945 PMID:36840469 PMID:37484956 More...
NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871
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Pten
phosphatase and tensin homolog
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9286463
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Aldob
aldolase, fructose-bisphosphate B
IEP
protein:increased activity:liver (rat)
RGD
PMID:8264573
RGD:2313432
NCBI chr 5:68,684,541...68,697,582
Ensembl chr 5:63,889,046...63,902,116
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Apobec1
apolipoprotein B mRNA editing enzyme catalytic subunit 1
IMP
RGD
PMID:9633945
RGD:10755510
NCBI chr 4:157,472,879...157,500,496
Ensembl chr 4:155,800,887...155,827,390
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Cbx7
chromobox 7
ISO
RGD
PMID:22214847
RGD:9587356
NCBI chr 7:113,341,030...113,358,716
Ensembl chr 7:111,460,656...111,477,973
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
IEP
protein:increased expression:liver
RGD
PMID:23890812
RGD:13792775
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Col1a1
collagen type I alpha 1 chain
onset
IEP
mRNA:increased expression:liver (rat)
RGD
PMID:21295105
RGD:5130894
NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624
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Eif4g2
eukaryotic translation initiation factor 4, gamma 2
ISO
RGD
PMID:9633945
RGD:10755510
NCBI chr 1:174,616,102...174,628,252
Ensembl chr 1:165,181,434...165,193,588
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H2ax
H2A.X variant histone
treatment
IEP
RGD
PMID:23474136
RGD:8693737
NCBI chr 8:53,568,718...53,570,072
Ensembl chr 8:44,671,786...44,673,239 Ensembl chr 4:44,671,786...44,673,239
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Hspa4
heat shock protein family A (Hsp70) member 4
IEP
protein:increased expression:liver (rat)
RGD
PMID:22213170
RGD:5686872
NCBI chr10:37,908,866...37,951,994
Ensembl chr10:37,408,025...37,449,001
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Il10
interleukin 10
treatment
IEP
RGD
PMID:25168696
RGD:11049493
NCBI chr13:45,024,921...45,029,586
Ensembl chr13:42,472,839...42,477,313
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Kmt5c
lysine methyltransferase 5C
disease_progression
IEP
protein:decreased expression:liver
RGD
PMID:16497704
RGD:9586726
NCBI chr 1:78,128,325...78,135,931
Ensembl chr 1:69,099,539...69,107,145
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Map2k3
mitogen activated protein kinase kinase 3
ISO
RGD
PMID:24233520
RGD:7495808
NCBI chr10:46,107,639...46,128,986
Ensembl chr10:45,607,163...45,629,492
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Met
MET proto-oncogene, receptor tyrosine kinase
onset
IEP
mRNA, protein:increased expression:neoplastic liver (rat)
RGD
PMID:11956651
RGD:2317546
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
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Mthfr
methylenetetrahydrofolate reductase
onset
IEP
mRNA:decreased expression:liver (rat)
RGD
PMID:22213190
RGD:6893663
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Nqo1
NAD(P)H quinone dehydrogenase 1
IEP
RGD
PMID:24418717
RGD:11035219
NCBI chr19:52,205,374...52,220,267
Ensembl chr19:35,295,573...35,310,557
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Ttpa
alpha tocopherol transfer protein
IEP
mRNA:decreased expression:liver
RGD
PMID:9178827
RGD:1600436
NCBI chr 5:38,294,415...38,315,471
Ensembl chr 5:33,497,137...33,518,073
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Tut4
terminal uridylyl transferase 4
ISO
human cells in a mouse model
RGD
PMID:24056962
RGD:11530012
NCBI chr 5:128,354,975...128,535,288
Ensembl chr 5:123,203,003...123,306,465
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Anapc2
anaphase promoting complex subunit 2
ISO
mRNA:decreased expression:lung (human)
RGD
PMID:14647414
RGD:10047051
NCBI chr 3:28,484,590...28,496,338
Ensembl chr 3:8,086,462...8,098,178
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Mir21
microRNA 21
ISO
RNA:increased expression:lung:
RGD
PMID:20956945
RGD:41404697
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
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Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Lymphangioma
ClinVar
PMID:12068308 PMID:12198537 PMID:12447372 PMID:12619120 PMID:12644542 PMID:12670889 PMID:12794760 PMID:12960123 PMID:14513361 PMID:14602780 PMID:15001635 PMID:15126572 PMID:15181070 PMID:15342696 PMID:15356022 PMID:15386408 PMID:15687339 PMID:15998781 PMID:16015629 PMID:16174717 PMID:16187918 PMID:16772349 PMID:17374713 PMID:17488796 PMID:17785355 PMID:18398503 PMID:19571295 PMID:20818844 PMID:20823850 PMID:21107320 PMID:21107323 PMID:22039425 PMID:22113612 PMID:22281684 PMID:23302800 PMID:23685455 PMID:24512911 PMID:24670642 PMID:24717435 PMID:25079330 PMID:25741868 PMID:25950823 PMID:28492532 PMID:28854169 PMID:29925953 PMID:31891627 PMID:34476331 More...
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
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Flt4
Fms related receptor tyrosine kinase 4
ISO
protein:increased expression:;lymphatic endothelial cell:
RGD
PMID:17584927
RGD:8552338
NCBI chr10:34,414,834...34,455,878
Ensembl chr10:33,913,608...33,954,770
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Kdr
kinase insert domain receptor
ISO
protein:increased expression:;lymphatic endothelial cell:
RGD
PMID:17584927
RGD:8552338
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Cavernous lymphangioma
ClinVar
PMID:15520168 PMID:22658544 PMID:22729222 PMID:23100325 PMID:23946963 PMID:25599672 PMID:25681199 PMID:25741868 PMID:26627007 PMID:27631024 PMID:29446767 PMID:34496175 PMID:34568242 PMID:34606700 PMID:37667289 More...
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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Mfhas1
multifunctional ROCO family signaling regulator 1
ISO
ClinVar Annotator: match by term: MFHAS1-related condition
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:63,248,833...63,336,441
Ensembl chr16:56,546,207...56,633,743
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Ppargc1a
PPARG coactivator 1 alpha
treatment
ISO
human cell line in mouse model
RGD
PMID:23166610
RGD:7242013
NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656
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Recql4
RecQ like helicase 4
ISO
ClinVar Annotator: match by term: Malignant fibrous histiocytoma
ClinVar
PMID:12734318 PMID:12952869 PMID:25741868 PMID:28492532 PMID:31604778
NCBI chr 7:110,304,092...110,311,426
Ensembl chr 7:108,423,455...108,430,619
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Brd7
bromodomain containing 7
ISO
ClinVar Annotator: match by term: malignant granular cell tumor
ClinVar
NCBI chr19:34,882,238...34,910,944
Ensembl chr19:18,709,022...18,737,494
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Kdm4b
lysine demethylase 4B
ISO
DNA:amplification:cds (human)
RGD
PMID:21785329
RGD:9587769
NCBI chr 9:1,245,885...1,324,384
Ensembl chr 9:1,158,752...1,236,543
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Stambp
Stam binding protein
ISO
ClinVar Annotator: match by term: Microcephaly-capillary malformation syndrome | ClinVar Annotator: match by term: STAMBP-related condition
OMIM ClinVar
PMID:18414213 PMID:21271646 PMID:21815250 PMID:23542699 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29907875 PMID:32929933 PMID:34791078 PMID:35723786 More...
NCBI chr 4:117,613,730...117,642,163
Ensembl chr 4:116,056,057...116,080,543
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Fhit
fragile histidine triad diadenosine triphosphatase
ISS
OMIM:158320
MouseDO
NCBI chr15:16,365,401...17,872,901
Ensembl chr15:13,934,995...15,442,340
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Mlh1
mutL homolog 1
ISO
ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:2414824 PMID:4063166 PMID:7705822 PMID:8198129 PMID:8566964 PMID:8571956 PMID:8574961 PMID:8592341 PMID:8751876 PMID:8776590 PMID:8808596 PMID:8872463 PMID:8880570 PMID:8993976 PMID:9234704 PMID:9311737 PMID:9377556 PMID:9536098 PMID:9697702 PMID:9806477 PMID:9927033 PMID:10037723 PMID:10349986 PMID:10422993 PMID:10480359 PMID:10573010 PMID:10660333 PMID:10713887 PMID:10732761 PMID:10874307 PMID:10995807 PMID:11112663 PMID:11139242 PMID:11151427 PMID:11208710 PMID:11343035 PMID:11369138 PMID:11385712 PMID:11427529 PMID:11429708 PMID:11555625 PMID:11585727 PMID:11601928 PMID:11748856 PMID:11781295 PMID:11793442 PMID:11839723 PMID:11879922 PMID:11920458 PMID:11920650 PMID:11948175 PMID:12095971 PMID:12112654 PMID:12200596 PMID:12362047 PMID:12373605 PMID:12377806 PMID:12522551 PMID:12618391 PMID:12624141 PMID:12658575 PMID:12810663 PMID:12919140 PMID:14514376 PMID:14526391 PMID:14635101 PMID:14762794 PMID:15173238 PMID:15222003 PMID:15254659 PMID:15300854 PMID:15475387 PMID:15520370 PMID:15655560 PMID:15713769 PMID:15845562 PMID:15849733 PMID:15864295 PMID:15870828 PMID:15926618 PMID:15996210 PMID:16083711 PMID:16181381 PMID:16199547 PMID:16203774 PMID:16216036 PMID:16288214 PMID:16338176 PMID:16341550 PMID:16395668 PMID:16451135 PMID:16736289 PMID:16769400 PMID:16830052 PMID:16929514 PMID:16995940 PMID:17011982 PMID:17026620 PMID:17054581 PMID:17117178 PMID:17135187 PMID:17192056 PMID:17210669 PMID:17312306 PMID:17453009 PMID:17510385 PMID:17576681 PMID:17594722 PMID:17889038 PMID:18033691 PMID:18094436 PMID:18307539 PMID:18373977 PMID:18383312 PMID:18470917 PMID:18547406 PMID:18561205 PMID:18566915 PMID:18726168 PMID:18772310 PMID:18931482 PMID:19116412 PMID:19224586 PMID:19267393 PMID:19324997 PMID:19389263 PMID:19419416 PMID:19669161 PMID:19690142 PMID:19697156 PMID:19698169 PMID:19731080 PMID:19863800 PMID:20020535 PMID:20045164 PMID:20052760 PMID:20176959 PMID:20215533 PMID:20223024 PMID:20233461 PMID:20373145 PMID:20924129 PMID:20978114 PMID:20978117 PMID:21056691 PMID:21120944 PMID:21239990 PMID:21247423 PMID:21255554 PMID:21387278 PMID:21404117 PMID:21520333 PMID:21598002 PMID:21636617 PMID:21642682 PMID:21671081 PMID:21681552 PMID:21868491 PMID:22136435 PMID:22180144 PMID:22252508 PMID:22290698 PMID:22322191 PMID:22692065 PMID:22703879 PMID:22736432 PMID:22776989 PMID:22843852 PMID:22875147 PMID:22949379 PMID:22949387 PMID:22995991 PMID:23047549 PMID:23354017 PMID:23403630 PMID:23431106 PMID:23523604 PMID:23729658 PMID:23741719 PMID:23760103 PMID:23797718 PMID:24032978 PMID:24033266 PMID:24055113 PMID:24096645 PMID:24278394 PMID:24344984 PMID:24362816 PMID:24440087 PMID:24456667 PMID:24710284 PMID:24933000 PMID:24953332 PMID:25085752 PMID:25117503 PMID:25133505 PMID:25186627 PMID:25430799 PMID:25477341 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25579085 PMID:25637381 PMID:25741868 PMID:25871441 PMID:26078562 PMID:26096739 PMID:26247049 PMID:26300997 PMID:26332594 PMID:26437257 PMID:26467025 PMID:26485756 PMID:26552419 PMID:26580448 PMID:26637282 PMID:26659639 PMID:26681312 PMID:26743599 PMID:26761715 PMID:26811195 PMID:26817999 PMID:26845104 PMID:26898890 PMID:26900293 PMID:27064304 PMID:27121310 PMID:27152634 PMID:27300552 PMID:27363726 PMID:27449771 PMID:27498913 PMID:27601186 PMID:27602174 PMID:27606285 PMID:27629256 PMID:27831900 PMID:27978560 PMID:28135145 PMID:28445943 PMID:28449805 PMID:28466842 PMID:28492532 PMID:28503720 PMID:28514183 PMID:28767289 PMID:28874130 PMID:28888541 PMID:28944238 PMID:29050249 PMID:29238914 PMID:29288294 PMID:29345684 PMID:29360550 PMID:29368341 PMID:29506128 PMID:29520894 PMID:29596542 PMID:29684080 PMID:29706640 PMID:29752822 PMID:29887214 PMID:30077346 PMID:30093976 PMID:30262796 PMID:30322717 PMID:30324682 PMID:30504929 PMID:30521064 PMID:30833958 PMID:30982232 PMID:30998989 PMID:31054147 PMID:31118792 PMID:31159747 PMID:31248605 PMID:31332305 PMID:31350202 PMID:31386297 PMID:31391288 PMID:31491536 PMID:31660093 PMID:31784484 PMID:31822864 PMID:31948886 PMID:32040686 PMID:32076465 PMID:32206572 PMID:32587781 PMID:32635641 PMID:32659497 PMID:32719484 PMID:32809219 PMID:32849802 PMID:32885271 PMID:32980694 PMID:33326660 PMID:33471991 PMID:33821390 PMID:34039291 PMID:34250417 PMID:34347074 PMID:34359559 PMID:34504932 PMID:34680242 PMID:35223509 PMID:35263119 PMID:35264596 PMID:35449176 PMID:35467778 PMID:35534704 PMID:35884425 PMID:36054288 PMID:36117189 PMID:36243179 PMID:36627197 PMID:37224528 PMID:37854294 PMID:39004446 More...
NCBI chr 8:120,074,871...120,112,109
Ensembl chr 8:111,196,468...111,233,617
G
Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:6096739 PMID:7585065 PMID:7713503 PMID:8062247 PMID:8261515 PMID:8566964 PMID:8592341 PMID:8700523 PMID:8872463 PMID:8895729 PMID:9002677 PMID:9217825 PMID:9259192 PMID:9288790 PMID:9536098 PMID:9718327 PMID:10051005 PMID:10080150 PMID:10323887 PMID:10375096 PMID:10397236 PMID:10413423 PMID:10446963 PMID:10874307 PMID:10978353 PMID:11151427 PMID:11291077 PMID:11601928 PMID:11782355 PMID:11809679 PMID:11920650 PMID:12112654 PMID:12132870 PMID:12200596 PMID:12352241 PMID:12362047 PMID:12522549 PMID:12537652 PMID:12624141 PMID:14994245 PMID:15222003 PMID:15235030 PMID:15254659 PMID:15520370 PMID:15655560 PMID:15713769 PMID:15849733 PMID:15855432 PMID:15872200 PMID:15942939 PMID:15991314 PMID:15996210 PMID:16203774 PMID:16216036 PMID:16395668 PMID:16451135 PMID:16574953 PMID:16636019 PMID:16736289 PMID:16807412 PMID:16830052 PMID:16996571 PMID:17101317 PMID:17192056 PMID:17250661 PMID:17250665 PMID:17312306 PMID:17473388 PMID:17569143 PMID:17576681 PMID:17720936 PMID:18033691 PMID:18270343 PMID:18289827 PMID:18325052 PMID:18383312 PMID:18460031 PMID:18566915 PMID:18625694 PMID:18726168 PMID:18772310 PMID:18781192 PMID:18781619 PMID:18951462 PMID:19130300 PMID:19267393 PMID:19389263 PMID:19419416 PMID:19459153 PMID:19731080 PMID:19760518 PMID:20007843 PMID:20176959 PMID:20682701 PMID:21120944 PMID:21387278 PMID:21598002 PMID:21636617 PMID:21642682 PMID:21681552 PMID:21788563 PMID:21837758 PMID:21868491 PMID:21926548 PMID:22034109 PMID:22290698 PMID:22322191 PMID:22480969 PMID:22581703 PMID:22883484 PMID:22933731 PMID:22949379 PMID:22949387 PMID:23047549 PMID:23170986 PMID:23229822 PMID:23329266 PMID:23990280 PMID:24033266 PMID:24040339 PMID:24090359 PMID:24310308 PMID:24323032 PMID:24326041 PMID:24344984 PMID:24362816 PMID:24415873 PMID:24474082 PMID:24506336 PMID:24549055 PMID:24710284 PMID:24728327 PMID:24735542 PMID:24763289 PMID:24851142 PMID:24933000 PMID:25025451 PMID:25085752 PMID:25093288 PMID:25110875 PMID:25117503 PMID:25133505 PMID:25194673 PMID:25430799 PMID:25479140 PMID:25525159 PMID:25559809 PMID:25637381 PMID:25639900 PMID:25741868 PMID:25795746 PMID:25980754 PMID:26094658 PMID:26096739 PMID:26250988 PMID:26270727 PMID:26289772 PMID:26315971 PMID:26332594 PMID:26333163 PMID:26344056 PMID:26437257 PMID:26467025 PMID:26552419 PMID:26580448 PMID:26681312 PMID:26878173 PMID:26900293 PMID:26951660 PMID:26976419 PMID:27013479 PMID:27153395 PMID:27328445 PMID:27329137 PMID:27363726 PMID:27449771 PMID:27601186 PMID:27606285 PMID:27629256 PMID:27863258 PMID:28125075 PMID:28195393 PMID:28202063 PMID:28422960 PMID:28449805 PMID:28491141 PMID:28492532 PMID:28640387 PMID:28767289 PMID:28785832 PMID:28828701 PMID:28874130 PMID:28932927 PMID:28944238 PMID:29025352 PMID:29212164 PMID:29368341 PMID:29458332 PMID:29489754 PMID:29575718 PMID:29625052 PMID:29706558 PMID:29887214 PMID:29889250 PMID:29945567 PMID:29967336 PMID:30019097 PMID:30093976 PMID:30131383 PMID:30238922 PMID:30267214 PMID:30274973 PMID:30306255 PMID:30374176 PMID:30521064 PMID:30553995 PMID:30702970 PMID:30787465 PMID:30875412 PMID:30998989 PMID:31054147 PMID:31159747 PMID:31162827 PMID:31297992 PMID:31332305 PMID:31391288 PMID:31422574 PMID:31444830 PMID:31491536 PMID:31569399 PMID:31615790 PMID:31660093 PMID:31742824 PMID:31857677 PMID:31911633 PMID:32075053 PMID:32338768 PMID:32522261 PMID:32658311 PMID:32659497 PMID:32719484 PMID:32809219 PMID:32832836 PMID:33357406 PMID:33359728 PMID:33422027 PMID:33471991 PMID:33484353 PMID:33558524 PMID:33580181 PMID:33606809 PMID:33630411 PMID:33726816 PMID:33827469 PMID:33848333 PMID:34117267 PMID:34178123 PMID:34250417 PMID:34347074 PMID:34371384 PMID:34426522 PMID:34667028 PMID:34761457 PMID:35245693 PMID:35264596 PMID:35534704 PMID:35734982 PMID:36073783 PMID:36356413 PMID:36421850 PMID:36451132 PMID:36593122 PMID:36672847 PMID:36845387 More...
NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938
G
Gja4
gap junction protein, alpha 4
ISO
ClinVar Annotator: match by term: Cutaneous venous malformation
ClinVar
PMID:33912852
NCBI chr 5:144,917,791...144,920,324
Ensembl chr 5:139,633,287...139,635,925
G
Tek
TEK receptor tyrosine kinase
ISO
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:7783168 PMID:7833915 PMID:8415706 PMID:8980225 PMID:9926914 PMID:10369874 PMID:19079259 PMID:19888299 PMID:20301733 PMID:25326635 PMID:25741868 PMID:26319232 PMID:27270174 PMID:28492532 More...
NCBI chr 5:114,722,815...114,849,535
Ensembl chr 5:109,607,077...109,733,804
G
Prlr
prolactin receptor
ISO
ClinVar Annotator: match by term: Multiple fibroadenomas of the breast
OMIM ClinVar
PMID:18779591
NCBI chr 2:60,861,391...61,051,883
Ensembl chr 2:59,134,588...59,324,718
G
Pdgfra
platelet derived growth factor receptor alpha
ISO
ClinVar Annotator: match by term: PDGFRA-related condition | ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
OMIM ClinVar
PMID:3152525 PMID:3152526 PMID:9536098 PMID:12522257 PMID:14699510 PMID:17087943 PMID:17566086 PMID:17568391 PMID:17576681 PMID:20071345 PMID:22473090 PMID:22703879 PMID:22745105 PMID:23752188 PMID:24728327 PMID:24969172 PMID:25741868 PMID:26928227 PMID:27153395 PMID:27701467 PMID:28492532 PMID:28592523 PMID:28873162 PMID:29486293 PMID:29978744 PMID:33332384 PMID:35101336 More...
NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,005,839...33,054,335
G
Ampd3
adenosine monophosphate deaminase 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:174,319,526...174,364,605
Ensembl chr 1:164,885,320...164,929,887
G
Arhgef2
Rho/Rac guanine nucleotide exchange factor 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:176,358,909...176,416,178
Ensembl chr 2:174,062,976...174,118,355
G
Arhgef40
Rho guanine nucleotide exchange factor 40
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:24,672,645...24,696,510
Ensembl chr15:24,672,763...24,696,510
G
Arih2
ariadne RBR E3 ubiquitin protein ligase 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:118,175,267...118,234,425
Ensembl chr 8:109,296,738...109,355,852
G
Asmtl
acetylserotonin O-methyltransferase-like
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:21,429,119...21,431,847
Ensembl chr12:16,315,414...16,318,080
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:15016963 PMID:15753399 PMID:24033266
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
G
Ccdc28a
coiled-coil domain containing 28A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:12,857,668...12,872,944
Ensembl chr 1:12,857,666...12,873,003
G
Cdca2
cell division cycle associated 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:46,071,360...46,117,524
Ensembl chr15:41,895,901...41,941,611
G
Cdcp1
CUB domain containing protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:122,828,685...122,865,345
Ensembl chr 8:122,828,685...122,865,388
G
Celf4
CUGBP, Elav-like family member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr18:17,061,284...17,339,747
Ensembl chr18:16,786,867...17,064,786
G
Clic6
chloride intracellular channel 6
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:45,223,715...45,266,261
Ensembl chr11:31,737,813...31,780,061
G
Clspn
claspin
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:144,134,619...144,169,531
Ensembl chr 5:138,850,128...138,885,034
G
Col4a2
collagen type IV alpha 2 chain
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:84,749,672...84,885,520
Ensembl chr16:78,047,602...78,183,839
G
Coro2a
coronin 2A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:60,825,630...60,881,917
Ensembl chr 5:60,828,247...60,859,035
G
Dapk1
death associated protein kinase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,930,213...4,090,991
G
Dchs1
dachsous cadherin-related 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:28492532 PMID:32381727
NCBI chr 1:169,516,758...169,550,789
Ensembl chr 1:160,104,931...160,124,808
G
Dyrk1b
dual specificity tyrosine phosphorylation regulated kinase 1B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:92,606,743...92,624,089
Ensembl chr 1:83,479,147...83,487,169
G
Ehbp1
EH domain binding protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:100,294,585...100,581,764
Ensembl chr14:96,093,327...96,345,332
G
Elovl5
ELOVL fatty acid elongase 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:87,671,164...87,737,618
Ensembl chr 8:78,790,846...78,857,284
G
Ephb6
Eph receptor B6
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 4:71,458,632...71,473,889
Ensembl chr 4:70,491,973...70,507,230
G
Eppk1
epiplakin 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:107,816,919...107,842,946
Ensembl chr 7:107,817,693...107,831,159
G
Etv5
ETS variant transcription factor 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr11:92,113,171...92,170,758
Ensembl chr11:78,608,710...78,666,215
G
Eya4
EYA transcriptional coactivator and phosphatase 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 1:23,991,431...24,235,132
Ensembl chr 1:22,172,275...22,415,976
G
Fam168b
family with sequence similarity 168, member B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:37,005,569...37,038,631
Ensembl chr 9:37,006,689...37,033,723
G
Fras1
Fraser extracellular matrix complex subunit 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
G
Ftcd
formimidoyltransferase cyclodeaminase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:25741868 PMID:28492532
NCBI chr20:12,054,710...12,068,219
Ensembl chr20:12,055,208...12,068,735
G
Gabrb3
gamma-aminobutyric acid type A receptor subunit beta 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:117,602,772...117,838,230
Ensembl chr 1:108,296,124...108,698,961
G
Grin3a
glutamate ionotropic receptor NMDA type subunit 3A
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:68,802,333...69,001,880
Ensembl chr 5:64,009,980...64,206,085
G
Gtdc1
glycosyltransferase-like domain containing 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:49,176,110...49,571,594
Ensembl chr 3:28,766,645...29,162,271
G
Has1
hyaluronan synthase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:67,366,460...67,378,686
Ensembl chr 1:58,693,411...58,705,397
G
Hivep1
HIVEP zinc finger 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:22,585,016...22,714,517
Ensembl chr17:22,585,016...22,711,956
G
Hrh2
histamine receptor H 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:10,371,083...10,412,979
Ensembl chr17:10,368,298...10,407,631
G
Ift140
intraflagellar transport 140
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,032,648...14,120,433
G
Igf2r
insulin-like growth factor 2 receptor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:50,526,878...50,615,265
Ensembl chr 1:47,979,109...48,067,501
G
Igsf3
immunoglobulin superfamily, member 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:191,499,972...191,588,249
Ensembl chr 2:188,811,380...188,899,645
G
Ints3
integrator complex subunit 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:175,859,421...175,911,683
Ensembl chr 2:175,859,440...175,911,709
G
Itgal
integrin subunit alpha L
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:191,348,424...191,386,228
Ensembl chr 1:181,918,183...181,955,732
G
Itgb4
integrin subunit beta 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:25741868
NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,206,665...101,243,012
G
Kcnj10
potassium inwardly-rectifying channel, subfamily J, member 10
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr13:87,334,510...87,367,747
Ensembl chr13:84,802,009...84,835,461
G
Larp4b
La ribonucleoprotein 4B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr17:61,138,663...61,217,423
Ensembl chr17:61,138,709...61,187,960
G
Lats1
large tumor suppressor kinase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:3,980,801...4,014,029
Ensembl chr 1:2,160,411...2,193,640
G
Leng9
leukocyte receptor cluster member 9
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:70,039,099...70,041,559
Ensembl chr 1:70,035,791...70,044,509
G
Lingo3
leucine rich repeat and Ig domain containing 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:8,869,025...8,878,431
Ensembl chr 7:8,869,025...8,878,431
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Lrp10
LDL receptor related protein 10
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:31,891,358...31,897,530
Ensembl chr15:27,920,259...27,927,505
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Lrrfip1
LRR binding FLII interacting protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:99,039,590...99,167,805
Ensembl chr 9:91,643,197...91,720,250
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Man2b1
mannosidase, alpha, class 2B, member 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:39,959,964...39,979,299
Ensembl chr19:23,055,097...23,074,389
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Mfhas1
multifunctional ROCO family signaling regulator 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:63,248,833...63,336,441
Ensembl chr16:56,546,207...56,633,743
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Mlxipl
MLX interacting protein-like
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:27,178,158...27,213,675
Ensembl chr12:21,543,576...21,577,112
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Mrrf
mitochondrial ribosome recycling factor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:39,884,530...39,941,317
Ensembl chr 3:19,487,182...19,543,908
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Napsa
napsin A aspartic peptidase
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:104,200,967...104,213,603
Ensembl chr 1:95,064,900...95,077,094
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Nr3c2
nuclear receptor subfamily 3, group C, member 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:47,619,853...47,964,089
Ensembl chr19:30,715,648...31,059,885
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Numa1
nuclear mitotic apparatus protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:165,709,893...165,784,848
Ensembl chr 1:156,326,259...156,372,855
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Oxa1l
OXA1L, mitochondrial inner membrane protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:31,783,725...31,791,353
Ensembl chr15:27,813,625...27,821,319
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Pacsin2
protein kinase C and casein kinase substrate in neurons 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:116,385,571...116,478,609
Ensembl chr 7:114,505,152...114,598,546
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Pars2
prolyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:126,662,882...126,667,981
Ensembl chr 5:121,434,096...121,439,154
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Plagl1
PLAG1 like zinc finger 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:9,297,066...9,337,394
Ensembl chr 1:7,477,177...7,517,228
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Pole
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:52,005,155...52,053,761
Ensembl chr12:46,345,420...46,393,939
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Prss1
serine protease 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:2539344 PMID:6023921 PMID:9322498 PMID:9557894 PMID:9633818 PMID:10204851 PMID:10514442 PMID:10691414 PMID:10801865 PMID:10835640 PMID:10872414 PMID:10909845 PMID:10982753 PMID:11097832 PMID:11247900 PMID:11312265 PMID:11719509 PMID:11788572 PMID:11842279 PMID:11932257 PMID:11950817 PMID:12011155 PMID:12853682 PMID:15028953 PMID:15776435 PMID:15786540 PMID:16632094 PMID:17204147 PMID:17568390 PMID:18286680 PMID:18511571 PMID:18755888 PMID:19453252 PMID:21415673 PMID:22379635 PMID:22539344 PMID:23143602 PMID:24002981 PMID:24458023 PMID:24525505 PMID:25741868 PMID:27578509 PMID:27673710 PMID:28492532 PMID:28861620 PMID:30420730 More...
NCBI chr 4:71,331,249...71,334,452
Ensembl chr 4:70,364,586...70,367,792
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Ptgfr
prostaglandin F receptor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 2:240,731,185...240,766,674
Ensembl chr 2:240,733,375...240,765,650
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Ptpn21
protein tyrosine phosphatase, non-receptor type 21
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:117,933,066...117,998,095
Ensembl chr 6:117,933,066...117,998,095
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Rabep2
rabaptin, RAB GTPase binding effector protein 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:190,433,501...190,457,241
Ensembl chr 1:181,010,305...181,026,648
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Rad50
RAD50 double strand break repair protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
PMID:28492532
NCBI chr10:38,310,147...38,362,100
Ensembl chr10:37,808,726...37,861,396
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Rbm12b
RNA binding motif protein 12B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:25,597,405...25,610,324
Ensembl chr 5:25,590,493...25,611,245
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Rbm4
RNA binding motif protein 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:211,507,845...211,516,907
Ensembl chr 1:202,085,279...202,105,380
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Recql5
RecQ like helicase 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:101,625,477...101,664,582
Ensembl chr10:101,126,547...101,165,652
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Rpl36
ribosomal protein L36
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 9:1,529,117...1,534,534
Ensembl chr 6:98,809,534...98,809,897 Ensembl chr 5:98,809,534...98,809,897
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Sacs
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr15:39,461,853...39,546,419
Ensembl chr15:35,285,782...35,370,335
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Scnn1g
sodium channel epithelial 1 subunit gamma
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:185,736,225...185,770,099
Ensembl chr 1:176,304,942...176,338,816
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Senp3
SUMO specific peptidase 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:54,889,445...54,898,359
Ensembl chr10:54,390,694...54,399,593
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Slc27a5
solute carrier family 27 member 5
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:82,688,742...82,699,335
Ensembl chr 1:73,616,564...73,627,172
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Slc7a2
solute carrier family 7 member 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:58,115,991...58,174,256
Ensembl chr16:51,417,493...51,470,784
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Smc1b
structural maintenance of chromosomes 1B
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:118,060,898...118,122,683
Ensembl chr 7:116,180,987...116,242,744
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Specc1
sperm antigen with calponin homology and coiled-coil domains 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr10:47,138,351...47,412,311
Ensembl chr10:46,638,809...46,912,802
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Spen
spen family transcriptional repressor
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:159,058,258...159,131,789
Ensembl chr 5:153,776,234...153,848,811
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Stil
STIL, centriolar assembly protein
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:133,757,598...133,810,493
Ensembl chr 5:128,520,953...128,573,730
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Ston1
stonin 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:11,596,726...11,646,098
Ensembl chr 6:5,843,185...5,892,449
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Syt7
synaptotagmin 7
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:216,456,148...216,518,718
Ensembl chr 1:207,031,592...207,089,026
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Tango6
transport and golgi organization 6 homolog
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:34,569,588...34,757,362
Ensembl chr19:34,569,635...34,754,639
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Tdp1
tyrosyl-DNA phosphodiesterase 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:124,892,821...124,960,646
Ensembl chr 6:119,163,166...119,231,021
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Tenm3
teneurin transmembrane protein 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:47,984,732...50,711,352
Ensembl chr16:41,252,182...43,978,594
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Tex15
testis expressed 15, meiosis and synapsis associated
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr16:65,302,049...65,362,065
Ensembl chr16:58,598,989...58,658,467
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Tgfbr1
transforming growth factor, beta receptor 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777
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Tln2
talin 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 8:76,712,112...77,133,361
Ensembl chr 8:67,834,326...68,252,219
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Tmcc3
transmembrane and coiled-coil domain family 3
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 7:30,781,452...31,058,888
Ensembl chr 7:28,893,967...29,171,926
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Tmem121
transmembrane protein 121
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:132,262,182...132,265,797
Ensembl chr 6:132,262,176...132,265,914
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Tnks1bp1
tankyrase 1 binding protein 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 3:90,542,006...90,566,720
Ensembl chr 3:70,137,837...70,160,038
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Trpm4
transient receptor potential cation channel, subfamily M, member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:104,918,462...104,949,453
Ensembl chr 1:95,782,000...95,812,532
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr12:47,599,161...47,638,143
Ensembl chr12:41,938,560...41,977,517
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Tsks
testis-specific serine kinase substrate
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:104,550,790...104,578,147
Ensembl chr 1:95,414,157...95,441,662
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Tspear
thrombospondin-type laminin G domain and EAR repeats
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr20:10,771,365...10,944,285
Ensembl chr20:10,772,219...10,943,914
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Vac14
VAC14 component of PIKFYVE complex
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr19:55,499,962...55,601,290
Ensembl chr19:38,590,569...38,691,909
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Vipr2
vasoactive intestinal peptide receptor 2
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:136,996,664...137,070,599
Ensembl chr 6:137,001,511...137,070,597
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Ylpm1
YLP motif containing 1
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 6:104,642,615...104,718,508
Ensembl chr 6:104,642,615...104,718,508
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Zfp668
zinc finger protein 668
ISO
ClinVar Annotator: match by term: Myoepithelial tumor
ClinVar
NCBI chr 1:191,905,112...191,915,436
Ensembl chr 1:182,474,633...182,492,878
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Zdbf2
zinc finger, DBF-type containing 2
ISO
ClinVar Annotator: match by term: Nasopalpebral lipoma-coloboma syndrome
ClinVar
PMID:23636874 PMID:27139419
NCBI chr 9:72,203,598...72,242,287
Ensembl chr 9:64,709,880...64,744,265
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Dicer1
dicer 1 ribonuclease III
ISO
DNA:mutations: :
RGD
PMID:24481001
RGD:149735348
NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965
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Atad5
ATPase family, AAA domain containing 5
ISO
mRNA:increased expression:neural tissue (human)
RGD
PMID:20844836
RGD:11552594
NCBI chr10:65,568,569...65,616,379
Ensembl chr10:65,070,689...65,117,845
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Axl
Axl receptor tyrosine kinase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25551830
NCBI chr 1:90,392,864...90,424,123
Ensembl chr 1:81,265,088...81,296,265
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
ISO
DNA,protein:deletion,decreased expression: :
RGD
PMID:10595918
RGD:1358481
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Eed
embryonic ectoderm development
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr 1:153,280,419...153,307,537
Ensembl chr 1:143,867,875...143,894,974
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Kdr
kinase insert domain receptor
ISO
mRNA:decreased expression:brain:
RGD
PMID:17570036
RGD:8552334
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Lztr1
leucine zipper like post translational regulator 1
ISO
DNA:missense mutation:cds,multiple (human)
RGD
PMID:24362817
RGD:151676717
NCBI chr11:96,991,956...97,008,127
Ensembl chr11:83,487,717...83,503,633
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Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
DNA:loss of heterozygosity
RGD
PMID:7669741
RGD:150530508
NCBI chr14:83,850,894...83,934,263
Ensembl chr14:79,627,399...79,710,667
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Pecam1
platelet and endothelial cell adhesion molecule 1
severity
ISO
protein:increased expression:tumor (human)
RGD
PMID:22555941
RGD:6771228
NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116
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Serpine1
serpin family E member 1
ISO
mRNA,protein:increased expression:schwann cell
RGD
PMID:14963743
RGD:13208544
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
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Six1
SIX homeobox 1
ISO
mRNA:increased expression:Schwann cell (human)
RGD
PMID:19901965
RGD:11561959
NCBI chr 6:97,482,617...97,487,853
Ensembl chr 6:91,746,739...91,751,975
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Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
ClinVar Annotator: match by term: Schwannoma
ClinVar
PMID:18647326 PMID:22434358 PMID:22949514 PMID:24933152 PMID:25631985 PMID:25741868 PMID:28492532 PMID:29517885 PMID:34747535 More...
NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620
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Snca
synuclein alpha
IEP
protein:increased expression:cytoplasm
RGD
PMID:11810180
RGD:6218996
NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:89,696,420...89,796,262
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Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25119042
NCBI chr10:65,464,948...65,510,846
Ensembl chr10:64,966,967...65,012,738
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Wt1
WT1 transcription factor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:25474318
NCBI chr 3:112,019,721...112,068,454
Ensembl chr 3:91,567,001...91,613,643
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Cftr
CF transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 PMID:12815607 PMID:16199547 PMID:20059485 PMID:23974870 PMID:25741868 PMID:27240813 PMID:28492532 PMID:29879995 PMID:31036917 PMID:31131953 PMID:32357917 More...
NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:46,560,885...46,728,756
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Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 PMID:31825158 More...
NCBI chr11:96,991,956...97,008,127
Ensembl chr11:83,487,717...83,503,633
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Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Nuchal bleb, familial
ClinVar
PMID:17143285 PMID:17586837 PMID:20186801 PMID:20301303 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489 More...
NCBI chr 6:20,286,117...20,363,350
Ensembl chr 6:14,533,360...14,611,107
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Cbx7
chromobox 7
ISO
protein:decreased expression:thyroid Human)
RGD
PMID:25759796
RGD:11352710
NCBI chr 7:113,341,030...113,358,716
Ensembl chr 7:111,460,656...111,477,973
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Ndufa13
NADH:ubiquinone oxidoreductase subunit A13
ISO
ClinVar Annotator: match by term: Hurthle cell carcinoma of the thyroid | ClinVar Annotator: match by term: NDUFA13-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15841082 PMID:25741868 PMID:28492532
NCBI chr16:19,560,526...19,567,500
Ensembl chr16:19,526,565...19,535,726 Ensembl chr 7:19,526,565...19,535,726
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Psmb9
proteasome 20S subunit beta 9
ISO
RGD
PMID:19924240
RGD:6483332
NCBI chr20:4,668,952...4,674,421
Ensembl chr20:4,666,046...4,672,512
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Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Ossifying fibroma of the jaw
ClinVar
PMID:27658992
NCBI chr13:57,897,924...58,000,031
Ensembl chr13:55,357,226...55,449,656
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Kit
KIT proto-oncogene receptor tyrosine kinase
ISO
renal oncocytomas
RGD
PMID:15780567
RGD:2292414
NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652
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Krt7
keratin 7
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16927643
NCBI chr 7:134,407,626...134,423,787
Ensembl chr 7:132,528,895...132,545,052
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Mt-nd6
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6
ISO
ClinVar Annotator: match by term: Oxyphilic adenoma
ClinVar
PMID:21555623
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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Pvalb
parvalbumin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16927643
NCBI chr 7:111,653,820...111,668,469
Ensembl chr 7:109,772,593...109,784,561
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Kras
KRAS proto-oncogene, GTPase
severity
ISO
DNA:mutations:cds:
RGD
PMID:28570009
RGD:14398747
NCBI chr 4:179,916,255...179,949,613
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Papillary tumor of the pineal region
ClinVar
PMID:10866302 PMID:11051241 PMID:12614768 PMID:17942903 PMID:21194675 PMID:21828076 PMID:23335809 PMID:23399955 PMID:25741868 PMID:26467025 PMID:27531073 PMID:27535533 PMID:27829222 PMID:28492532 PMID:29706350 PMID:29706646 PMID:30181857 PMID:32664367 PMID:33083010 PMID:33088792 PMID:36988593 More...
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Bap1
BRCA1 associated deubiquitinase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25231345
NCBI chr16:6,453,126...6,461,952
Ensembl chr16:6,446,709...6,455,535
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Birc2
baculoviral IAP repeat-containing 2
exacerbates
ISO
mRNA:increased expression:adrenal gland, chromaffin cell (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 8:13,253,697...13,273,672
Ensembl chr 8:4,968,842...4,988,732
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
IAGP
RGD
PMID:12036912
RGD:619590
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
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Cdkn1bwe
cyclin-dependent kinase inhibitor 1B; white eye mutation
IAGP
RGD
PMID:12036912
RGD:619590
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Dagla
diacylglycerol lipase, alpha
ISO
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas
ClinVar
PMID:22241717 PMID:26096992 PMID:28492532
NCBI chr 1:216,315,515...216,372,219
Ensembl chr 1:206,890,638...206,947,232
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Lrrc10b
leucine rich repeat containing 10B
ISO
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas
ClinVar
PMID:22241717 PMID:26096992 PMID:28492532
NCBI chr 1:207,096,471...207,097,699
Ensembl chr 1:207,022,919...207,098,045
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Max
MYC associated factor X
ISO
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas 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 ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant
ClinVar
PMID:1459463 PMID:1730412 PMID:7630640 PMID:9115440 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21685915 PMID:22452945 PMID:23551045 PMID:23666964 PMID:25741868 PMID:26070438 PMID:26269449 PMID:26467025 PMID:27838885 PMID:27903915 PMID:28152038 PMID:28384794 PMID:28492532 PMID:28552549 PMID:29909963 PMID:30455982 PMID:30877234 PMID:33367756 PMID:33493868 PMID:33606809 PMID:34130653 PMID:34439168 PMID:35441217 PMID:37529773 PMID:38141607 PMID:39279998 More...
NCBI chr 6:101,369,989...101,395,333
Ensembl chr 6:95,636,858...95,662,137
G
Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas
ClinVar
PMID:12807974 PMID:17468193 PMID:23342407 PMID:25741868 PMID:28492532
NCBI chr13:86,103,290...86,109,156
Ensembl chr13:83,570,811...83,576,679
G
Myrf
myelin regulatory factor
ISO
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas
ClinVar
PMID:22241717 PMID:26096992 PMID:28492532
NCBI chr 1:216,279,057...216,311,155
Ensembl chr 1:206,854,175...206,886,157
G
Naip6
NLR family, apoptosis inhibitory protein 6
exacerbates
ISO
mRNA:increased expression:adrenal gland, chromaffin cell (human)
RGD
PMID:31964418
RGD:153344516
NCBI chr 2:33,241,520...33,293,184
Ensembl chr 2:31,507,424...31,570,542
G
Saxo4
stabilizer of axonemal microtubules 4
ISO
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas
ClinVar
PMID:22241717 PMID:26096992 PMID:28492532
NCBI chr 1:216,538,735...216,548,195
Ensembl chr 1:207,113,809...207,122,358
G
Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata
ClinVar
PMID:11423010 PMID:17298551 PMID:17376234 PMID:20484225 PMID:21858060 PMID:22904323 PMID:22955521 PMID:22974104 PMID:23666964 PMID:24033266 PMID:24781757 PMID:25363768 PMID:25394176 PMID:25720320 PMID:25741868 PMID:26467025 PMID:28384794 PMID:28492532 PMID:28546994 PMID:28714951 PMID:28724664 PMID:28798025 PMID:28873162 PMID:29177515 PMID:29978154 PMID:30201732 PMID:30680959 PMID:30775854 PMID:30854332 PMID:30877234 PMID:31527833 PMID:31589614 PMID:31981491 PMID:32462735 PMID:32570879 PMID:32581362 PMID:33854214 PMID:34014604 PMID:35059314 PMID:35372080 PMID:36010880 PMID:38473309 More...
NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
G
Sdhaf2
succinate dehydrogenase complex assembly factor 2
ISO
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: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata
ClinVar
PMID:6264239 PMID:6286462 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19628817 PMID:20071235 PMID:21224366 PMID:21348866 PMID:21752896 PMID:22241717 PMID:22703879 PMID:23062074 PMID:23666964 PMID:24033266 PMID:24414418 PMID:24712571 PMID:25394176 PMID:25741868 PMID:26016412 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27600092 PMID:28099933 PMID:28492532 PMID:28892078 PMID:29641532 PMID:30050099 PMID:30306255 PMID:31666924 PMID:31687641 PMID:32741965 PMID:32830346 PMID:32887801 PMID:33748650 PMID:35441217 PMID:35668420 PMID:36495689 PMID:36597280 PMID:36841802 PMID:38473309 More...
NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
G
Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
PGL4,OMIM:115310;DNA:point mutation:exon:R90X, P197R ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | 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 CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 PMID:11897817 PMID:12000816 PMID:12205103 PMID:12213855 PMID:12351569 PMID:12362046 PMID:12364472 PMID:12560550 PMID:12618761 PMID:12807974 PMID:13129931 PMID:14500403 PMID:14643060 PMID:14685938 PMID:14715873 PMID:14974914 PMID:14985401 PMID:15235042 PMID:15328326 PMID:15476441 PMID:15531530 PMID:15883710 PMID:15987702 PMID:15988378 PMID:15989954 PMID:16001332 PMID:16080530 PMID:16103922 PMID:16199547 PMID:16258955 PMID:16288654 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16472267 PMID:16912137 PMID:16916404 PMID:16982587 PMID:17102082 PMID:17102083 PMID:17102084 PMID:17102086 PMID:17143317 PMID:17200167 PMID:17298551 PMID:17308434 PMID:17376234 PMID:17487275 PMID:17538171 PMID:17576681 PMID:17634472 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17884808 PMID:17943698 PMID:17987308 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18502330 PMID:18519664 PMID:18551016 PMID:18678321 PMID:18728283 PMID:18753105 PMID:18840642 PMID:19001511 PMID:19064958 PMID:19075037 PMID:19153209 PMID:19184535 PMID:19189136 PMID:19215943 PMID:19258401 PMID:19261994 PMID:19351833 PMID:19368708 PMID:19389109 PMID:19393419 PMID:19399650 PMID:19411806 PMID:19415531 PMID:19454582 PMID:19522823 PMID:19576851 PMID:19596260 PMID:19694205 PMID:19763184 PMID:19768395 PMID:19802898 PMID:19825962 PMID:19927285 PMID:20119652 PMID:20208144 PMID:20213850 PMID:20418362 PMID:20459544 PMID:20503330 PMID:20505258 PMID:20540712 PMID:20583550 PMID:20592014 PMID:20605972 PMID:20614293 PMID:20923864 PMID:20960097 PMID:20981092 PMID:21172883 PMID:21173220 PMID:21348866 PMID:21520333 PMID:21561462 PMID:21565294 PMID:21784903 PMID:21820839 PMID:21822798 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22041710 PMID:22109755 PMID:22241717 PMID:22270996 PMID:22293219 PMID:22429592 PMID:22492777 PMID:22517554 PMID:22517557 PMID:22573489 PMID:22584711 PMID:22677546 PMID:22703879 PMID:22829200 PMID:22835832 PMID:22904323 PMID:22938532 PMID:22972948 PMID:22995128 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23318864 PMID:23407919 PMID:23434467 PMID:23512077 PMID:23640968 PMID:23666964 PMID:23735539 PMID:23797725 PMID:23902947 PMID:23934599 PMID:24033266 PMID:24055113 PMID:24092654 PMID:24096523 PMID:24102379 PMID:24134185 PMID:24276837 PMID:24395865 PMID:24436918 PMID:24466223 PMID:24509376 PMID:24523625 PMID:24606901 PMID:24623741 PMID:24659481 PMID:24728327 PMID:24735130 PMID:24758379 PMID:24781345 PMID:24939699 PMID:25025441 PMID:25047027 PMID:25151137 PMID:25215250 PMID:25298897 PMID:25326637 PMID:25333069 PMID:25371406 PMID:25376524 PMID:25394176 PMID:25405498 PMID:25494863 PMID:25595276 PMID:25637381 PMID:25683602 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25736212 PMID:25741868 PMID:25791839 PMID:25873086 PMID:25972245 PMID:26071763 PMID:26092435 PMID:26096992 PMID:26102504 PMID:26173966 PMID:26182300 PMID:26198225 PMID:26236513 PMID:26259135 PMID:26269449 PMID:26273102 PMID:26283294 PMID:26302408 PMID:26332594 PMID:26370861 PMID:26467025 PMID:26556299 PMID:26642834 PMID:26719882 PMID:26749241 PMID:26916530 PMID:26925370 PMID:26960314 PMID:27011036 PMID:27159321 PMID:27171833 PMID:27279923 PMID:27539324 PMID:27542510 PMID:27549546 PMID:27573198 PMID:27604842 PMID:27634942 PMID:27785149 PMID:27819762 PMID:27867439 PMID:27882345 PMID:27974047 PMID:28070496 PMID:28152038 PMID:28179334 PMID:28220018 PMID:28229225 PMID:28255624 PMID:28284009 PMID:28324028 PMID:28349240 PMID:28369925 PMID:28374168 PMID:28409892 PMID:28469506 PMID:28490599 PMID:28492532 PMID:28503760 PMID:28646318 PMID:28738844 PMID:28784873 PMID:28819017 PMID:28873162 PMID:28891197 PMID:28944243 PMID:28973655 PMID:29192238 PMID:29386252 PMID:29504908 PMID:29510530 PMID:29623478 PMID:29684080 PMID:29909963 PMID:29925701 PMID:29951630 PMID:30013182 PMID:30050099 PMID:30087776 PMID:30122763 PMID:30152102 PMID:30155846 PMID:30201732 PMID:30217213 PMID:30352407 PMID:30487145 PMID:30536464 PMID:30658386 PMID:30877234 PMID:31194233 PMID:31212687 PMID:31216007 PMID:31308404 PMID:31365623 PMID:31492822 PMID:31579262 PMID:31666924 PMID:31705439 PMID:31780696 PMID:31883676 PMID:32023584 PMID:32035780 PMID:32124427 PMID:32460727 PMID:32462735 PMID:32659967 PMID:32661476 PMID:32688340 PMID:32741965 PMID:32782288 PMID:32859697 PMID:32863293 PMID:32963463 PMID:32971818 PMID:33219105 PMID:33300499 PMID:33362715 PMID:33391357 PMID:33397040 PMID:33420946 PMID:33558524 PMID:33564614 PMID:33628464 PMID:33748650 PMID:34052969 PMID:34069252 PMID:34072806 PMID:34095481 PMID:34118692 PMID:34255389 PMID:34308366 PMID:34309460 PMID:34326862 PMID:34377882 PMID:34426522 PMID:34439168 PMID:34439371 PMID:34452955 PMID:34466344 PMID:34490615 PMID:34654328 PMID:34703596 PMID:34750850 PMID:34906457 PMID:34939938 PMID:34940133 PMID:35060925 PMID:35127314 PMID:35171114 PMID:35441217 PMID:35460558 PMID:35546442 PMID:35673401 PMID:35739278 PMID:35869040 PMID:35870552 PMID:35904169 PMID:36200007 PMID:36387130 PMID:36597280 PMID:36786389 PMID:37529773 PMID:38473309 PMID:163114641 PMID:11404820 More...
RGD:1624151
NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293
G
Sdhc
succinate dehydrogenase complex subunit C
ISO
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 ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant
ClinVar RGD
PMID:9536098 PMID:11062460 PMID:12658451 PMID:12807974 PMID:15989954 PMID:16199547 PMID:16249420 PMID:17298551 PMID:17468193 PMID:17576681 PMID:17636259 PMID:17667967 PMID:17804857 PMID:17898811 PMID:18212813 PMID:18491383 PMID:19245779 PMID:19332149 PMID:19351833 PMID:19454582 PMID:19546167 PMID:21106325 PMID:21173220 PMID:21822798 PMID:22517554 PMID:22517557 PMID:22703879 PMID:22829200 PMID:22868853 PMID:23083876 PMID:23162105 PMID:23175444 PMID:23282968 PMID:23342407 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24096523 PMID:24102379 PMID:24150194 PMID:24402737 PMID:24423348 PMID:24466223 PMID:24523625 PMID:24625421 PMID:24728327 PMID:24758179 PMID:24781345 PMID:25024072 PMID:25025441 PMID:25394176 PMID:25494863 PMID:25637381 PMID:25741868 PMID:25787132 PMID:25950479 PMID:26173966 PMID:26198225 PMID:26259135 PMID:26273102 PMID:26467025 PMID:27153395 PMID:27262318 PMID:27279923 PMID:27700540 PMID:27867439 PMID:27913608 PMID:28202063 PMID:28412079 PMID:28492532 PMID:28819017 PMID:28873162 PMID:29305721 PMID:29386252 PMID:29504908 PMID:29641532 PMID:29878124 PMID:30050099 PMID:30201732 PMID:30548481 PMID:30583724 PMID:30877234 PMID:31194233 PMID:31308404 PMID:31666924 PMID:32035780 PMID:32688340 PMID:32751108 PMID:33332384 PMID:33676450 PMID:33748650 PMID:34110302 PMID:34301805 PMID:34308366 PMID:34439371 PMID:34558728 PMID:34703596 PMID:34750850 PMID:35171114 PMID:35441217 PMID:35739278 PMID:36045543 PMID:36091175 PMID:36198483 PMID:36449569 PMID:11062460 More...
RGD:1599507
NCBI chr13:86,077,133...86,098,025
Ensembl chr13:83,544,652...83,566,253
G
Sdhd
succinate dehydrogenase complex subunit D
ISO
DNA:missense mutations, nonsense mutations:cds:multiple (human) ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: PARAGANGLIOMATA | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | 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: Paragangliomata 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 CTD Direct Evidence: marker/mechanism
ClinVar CTD RGD
PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11605159 PMID:11897812 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12114404 PMID:12218630 PMID:12364472 PMID:12386824 PMID:12509798 PMID:12696072 PMID:12782822 PMID:12807974 PMID:12811540 PMID:14557476 PMID:14974914 PMID:15032977 PMID:15066320 PMID:15235042 PMID:15328326 PMID:15479192 PMID:15531530 PMID:15623805 PMID:15774781 PMID:15905695 PMID:16061558 PMID:16080474 PMID:16199547 PMID:16314641 PMID:16317055 PMID:17041923 PMID:17102085 PMID:17208193 PMID:17308434 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17973943 PMID:18414213 PMID:18551016 PMID:18678321 PMID:18692411 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19454582 PMID:19550080 PMID:19584903 PMID:19802898 PMID:19825962 PMID:20111059 PMID:20301715 PMID:20418362 PMID:21318381 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22170724 PMID:22241717 PMID:22290790 PMID:22382802 PMID:22456618 PMID:22517554 PMID:22566157 PMID:22566194 PMID:22575350 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23083876 PMID:23175444 PMID:23433498 PMID:23512077 PMID:23586964 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24134185 PMID:24367056 PMID:24436918 PMID:24728327 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25058219 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25328978 PMID:25494863 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25741136 PMID:25741868 PMID:25758995 PMID:25791839 PMID:25819804 PMID:25985138 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27073498 PMID:27153395 PMID:27279923 PMID:27634942 PMID:27700540 PMID:27856506 PMID:27867439 PMID:27913608 PMID:28128698 PMID:28164237 PMID:28179334 PMID:28492532 PMID:28552549 PMID:28873162 PMID:28975465 PMID:28977582 PMID:29386252 PMID:29504908 PMID:29510530 PMID:29545045 PMID:29625052 PMID:29681642 PMID:29777207 PMID:29792313 PMID:29875428 PMID:29925701 PMID:30050099 PMID:30093976 PMID:30273935 PMID:30375904 PMID:30484866 PMID:30877234 PMID:30951038 PMID:31104306 PMID:31194233 PMID:31194241 PMID:31492822 PMID:31508186 PMID:31666924 PMID:31834447 PMID:32035780 PMID:32098148 PMID:32472550 PMID:32561571 PMID:32659967 PMID:32741965 PMID:32971818 PMID:33219105 PMID:33391357 PMID:33748650 PMID:34012134 PMID:34072806 PMID:34439168 PMID:34750850 PMID:34877445 PMID:34906457 PMID:34907111 PMID:35626065 PMID:35668420 PMID:35739269 PMID:35938916 PMID:35966080 PMID:38144572 PMID:10657297 More...
RGD:1302858
NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:50,944,704...50,954,238
G
Sstr2
somatostatin receptor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29163802
NCBI chr10:99,163,353...99,170,519
Ensembl chr10:98,664,216...98,674,351
G
Syt7
synaptotagmin 7
ISO
ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas
ClinVar
PMID:22241717 PMID:26096992 PMID:28492532
NCBI chr 1:216,456,148...216,518,718
Ensembl chr 1:207,031,592...207,089,026
G
Tmem127
transmembrane protein 127
ISO
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: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | 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: Paragangliomata
ClinVar
PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 PMID:20923864 PMID:21156949 PMID:21613359 PMID:22136840 PMID:22419703 PMID:22517554 PMID:22541004 PMID:23666964 PMID:24033266 PMID:24334765 PMID:24694336 PMID:25389632 PMID:25637381 PMID:25741868 PMID:25800244 PMID:26267327 PMID:26269449 PMID:26467025 PMID:26960314 PMID:27153395 PMID:28384794 PMID:28458909 PMID:28492532 PMID:28567294 PMID:28646318 PMID:28717660 PMID:28855235 PMID:29282712 PMID:29625052 PMID:29909963 PMID:30113886 PMID:30246500 PMID:30877234 PMID:31666924 PMID:32575117 PMID:32877928 PMID:32994724 PMID:33051659 PMID:33219105 PMID:34308366 PMID:34439168 PMID:34870338 PMID:35189708 PMID:36451132 PMID:36655350 More...
NCBI chr 3:134,919,416...134,932,210
Ensembl chr 3:114,466,171...114,477,519
G
Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Paragangliomas 1
ClinVar
PMID:25720320 PMID:25741868 PMID:26198225 PMID:26269449 PMID:27390349 PMID:28492532 PMID:29177515 PMID:30877234 PMID:35059314 More...
NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
G
Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Paragangliomas 1 | ClinVar Annotator: match by term: Paragangliomas familial 1
OMIM ClinVar
PMID:8981955 PMID:9683583 PMID:10323245 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11605159 PMID:11897812 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12114404 PMID:12218630 PMID:12364472 PMID:12386824 PMID:12696072 PMID:12782822 PMID:12811540 PMID:14557476 PMID:14974914 PMID:15032977 PMID:15066320 PMID:15235042 PMID:15328326 PMID:15479192 PMID:15531530 PMID:15623805 PMID:15774781 PMID:15905695 PMID:16061558 PMID:16080474 PMID:16314641 PMID:16317055 PMID:17041923 PMID:17102082 PMID:17102085 PMID:17208193 PMID:17308434 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17973943 PMID:18211978 PMID:18213727 PMID:18414213 PMID:18561749 PMID:18678321 PMID:18692411 PMID:18826997 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19393419 PMID:19454582 PMID:19550080 PMID:19584903 PMID:19802898 PMID:19825962 PMID:20098451 PMID:20208144 PMID:20301715 PMID:20418362 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21822798 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22025150 PMID:22241717 PMID:22290790 PMID:22456618 PMID:22517554 PMID:22566157 PMID:22566194 PMID:22575350 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23175444 PMID:23433498 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24134185 PMID:24436918 PMID:24728327 PMID:24735130 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25058219 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25328978 PMID:25494863 PMID:25694510 PMID:25695889 PMID:25741136 PMID:25741868 PMID:25791839 PMID:25819804 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27073498 PMID:27153395 PMID:27279923 PMID:27539324 PMID:27700540 PMID:27785149 PMID:27856506 PMID:27867439 PMID:27913608 PMID:28128698 PMID:28164237 PMID:28179334 PMID:28255624 PMID:28492532 PMID:28552549 PMID:28873162 PMID:28975465 PMID:28977582 PMID:29386252 PMID:29504908 PMID:29625052 PMID:29681642 PMID:29777207 PMID:29792313 PMID:29925701 PMID:30050099 PMID:30093976 PMID:30273935 PMID:30375904 PMID:30484866 PMID:30877234 PMID:30951038 PMID:31194233 PMID:31212687 PMID:31492822 PMID:31666924 PMID:31834447 PMID:32035780 PMID:32098148 PMID:32561571 PMID:32741965 PMID:32948182 PMID:32948195 PMID:32971818 PMID:33219105 PMID:33362715 PMID:33391357 PMID:33397040 PMID:33748650 PMID:33851515 PMID:34072806 PMID:34439168 PMID:34750850 PMID:34877445 PMID:34906457 PMID:35060925 PMID:35460558 PMID:35626065 PMID:35668420 PMID:35739269 PMID:35938916 PMID:35966080 PMID:36614070 PMID:37873498 PMID:38144572 More...
NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:50,944,704...50,954,238
G
Sdhaf2
succinate dehydrogenase complex assembly factor 2
ISO
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 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:6264239 PMID:6286462 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19628817 PMID:20071235 PMID:21224366 PMID:21348866 PMID:22241717 PMID:22703879 PMID:23062074 PMID:24033266 PMID:24414418 PMID:25394176 PMID:25741868 PMID:26016412 PMID:26096992 PMID:26467025 PMID:27600092 PMID:28099933 PMID:28492532 PMID:28892078 PMID:29641532 PMID:30050099 PMID:30306255 PMID:31687641 PMID:32830346 PMID:32887801 PMID:35441217 PMID:35668420 PMID:36495689 PMID:36597280 PMID:38473309 More...
NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
G
Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3
ClinVar
PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr13:86,103,290...86,109,156
Ensembl chr13:83,570,811...83,576,679
G
Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
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: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, extraadrenal and cervical paraganglioma | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Pheochromocytoma, extraadrenal and cervical paraganglioma | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, extraadrenal and cervical paraganglioma | 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
ClinVar
PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 PMID:11897817 PMID:12000816 PMID:12213855 PMID:12362046 PMID:12364472 PMID:12560550 PMID:12618761 PMID:12807974 PMID:13129931 PMID:14500403 PMID:14685938 PMID:14715873 PMID:14974914 PMID:14985401 PMID:15235042 PMID:15328326 PMID:15476441 PMID:15987702 PMID:15988378 PMID:15989954 PMID:16080530 PMID:16103922 PMID:16199547 PMID:16258955 PMID:16288654 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16472267 PMID:16912137 PMID:16916404 PMID:16982587 PMID:17102082 PMID:17102083 PMID:17102084 PMID:17102086 PMID:17143317 PMID:17200167 PMID:17298551 PMID:17308434 PMID:17376234 PMID:17487275 PMID:17538171 PMID:17576681 PMID:17634472 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17884808 PMID:17943698 PMID:17987308 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18502330 PMID:18519664 PMID:18551016 PMID:18678321 PMID:18728283 PMID:18753105 PMID:18840642 PMID:19001511 PMID:19064958 PMID:19075037 PMID:19153209 PMID:19184535 PMID:19189136 PMID:19215943 PMID:19258401 PMID:19261994 PMID:19351833 PMID:19368708 PMID:19389109 PMID:19393419 PMID:19399650 PMID:19411806 PMID:19415531 PMID:19454582 PMID:19522823 PMID:19576851 PMID:19596260 PMID:19694205 PMID:19763184 PMID:19768395 PMID:19802898 PMID:19825962 PMID:19927285 PMID:20119652 PMID:20208144 PMID:20213850 PMID:20418362 PMID:20459544 PMID:20503330 PMID:20505258 PMID:20540712 PMID:20583550 PMID:20592014 PMID:20605972 PMID:20614293 PMID:20923864 PMID:20960097 PMID:20981092 PMID:21172883 PMID:21173220 PMID:21348866 PMID:21520333 PMID:21561462 PMID:21565294 PMID:21784903 PMID:21820839 PMID:21822798 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22041710 PMID:22109755 PMID:22241717 PMID:22270996 PMID:22293219 PMID:22429592 PMID:22492777 PMID:22517554 PMID:22517557 PMID:22573489 PMID:22584711 PMID:22677546 PMID:22703879 PMID:22829200 PMID:22835832 PMID:22904323 PMID:22938532 PMID:22972948 PMID:22995128 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23318864 PMID:23407919 PMID:23434467 PMID:23512077 PMID:23640968 PMID:23666964 PMID:23735539 PMID:23797725 PMID:23902947 PMID:23934599 PMID:24033266 PMID:24055113 PMID:24092654 PMID:24096523 PMID:24102379 PMID:24134185 PMID:24276837 PMID:24395865 PMID:24436918 PMID:24466223 PMID:24509376 PMID:24523625 PMID:24606901 PMID:24623741 PMID:24659481 PMID:24728327 PMID:24735130 PMID:24781345 PMID:24939699 PMID:25025441 PMID:25047027 PMID:25151137 PMID:25215250 PMID:25298897 PMID:25326637 PMID:25333069 PMID:25371406 PMID:25376524 PMID:25394176 PMID:25494863 PMID:25595276 PMID:25637381 PMID:25677497 PMID:25683602 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25736212 PMID:25741868 PMID:25791839 PMID:25873086 PMID:25972245 PMID:26071763 PMID:26092435 PMID:26096992 PMID:26102504 PMID:26173966 PMID:26182300 PMID:26198225 PMID:26236513 PMID:26259135 PMID:26269449 PMID:26273102 PMID:26283294 PMID:26302408 PMID:26332594 PMID:26467025 PMID:26556299 PMID:26642834 PMID:26719882 PMID:26749241 PMID:26916530 PMID:26925370 PMID:26960314 PMID:27011036 PMID:27159321 PMID:27171833 PMID:27279923 PMID:27539324 PMID:27542510 PMID:27549546 PMID:27573198 PMID:27604842 PMID:27634942 PMID:27785149 PMID:27819762 PMID:27867439 PMID:27882345 PMID:27974047 PMID:28070496 PMID:28152038 PMID:28179334 PMID:28220018 PMID:28229225 PMID:28255624 PMID:28284009 PMID:28324028 PMID:28349240 PMID:28369925 PMID:28374168 PMID:28409892 PMID:28469506 PMID:28490599 PMID:28492532 PMID:28503760 PMID:28646318 PMID:28738844 PMID:28784873 PMID:28819017 PMID:28873162 PMID:28891197 PMID:28944243 PMID:28973655 PMID:29192238 PMID:29386252 PMID:29504908 PMID:29510530 PMID:29623478 PMID:29684080 PMID:29909963 PMID:29925701 PMID:29951630 PMID:30050099 PMID:30087776 PMID:30122763 PMID:30152102 PMID:30155846 PMID:30201732 PMID:30217213 PMID:30352407 PMID:30487145 PMID:30536464 PMID:30658386 PMID:30877234 PMID:31194233 PMID:31212687 PMID:31216007 PMID:31308404 PMID:31365623 PMID:31492822 PMID:31579262 PMID:31666924 PMID:31705439 PMID:31780696 PMID:31883676 PMID:32023584 PMID:32035780 PMID:32124427 PMID:32460727 PMID:32462735 PMID:32659967 PMID:32661476 PMID:32688340 PMID:32741965 PMID:32782288 PMID:32859697 PMID:32863293 PMID:32963463 PMID:32971818 PMID:33219105 PMID:33300499 PMID:33362715 PMID:33391357 PMID:33397040 PMID:33420946 PMID:33558524 PMID:33564614 PMID:33628464 PMID:33748650 PMID:34052969 PMID:34069252 PMID:34072806 PMID:34095481 PMID:34118692 PMID:34255389 PMID:34308366 PMID:34309460 PMID:34326862 PMID:34377882 PMID:34426522 PMID:34439168 PMID:34439371 PMID:34452955 PMID:34466344 PMID:34490615 PMID:34654328 PMID:34703596 PMID:34750850 PMID:34906457 PMID:34939938 PMID:34940133 PMID:35060925 PMID:35127314 PMID:35171114 PMID:35441217 PMID:35460558 PMID:35546442 PMID:35673401 PMID:35739278 PMID:35869040 PMID:35870552 PMID:35904169 PMID:36200007 PMID:36387130 PMID:36597280 PMID:36786389 PMID:37529773 PMID:38473309 PMID:163114641 More...
NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293
G
Sdhc
succinate dehydrogenase complex subunit C
ISO
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, extraadrenal and cervical paraganglioma 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 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal
OMIM ClinVar CTD
PMID:9536098 PMID:11062460 PMID:12658451 PMID:12807974 PMID:15342702 PMID:15989954 PMID:16199547 PMID:16249420 PMID:17298551 PMID:17468193 PMID:17576681 PMID:17636259 PMID:17667967 PMID:17804857 PMID:17898811 PMID:18212813 PMID:18491383 PMID:19245779 PMID:19332149 PMID:19351833 PMID:19454582 PMID:19546167 PMID:19906784 PMID:21106325 PMID:21173220 PMID:21348866 PMID:21822798 PMID:21979946 PMID:22136840 PMID:22351710 PMID:22517554 PMID:22517557 PMID:22703879 PMID:22829200 PMID:22868853 PMID:23083876 PMID:23162105 PMID:23175444 PMID:23282968 PMID:23342407 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24096523 PMID:24102379 PMID:24150194 PMID:24402737 PMID:24423348 PMID:24466223 PMID:24523625 PMID:24625421 PMID:24728327 PMID:24758179 PMID:24781345 PMID:25024072 PMID:25025441 PMID:25394176 PMID:25494863 PMID:25637381 PMID:25720320 PMID:25741868 PMID:25787132 PMID:25950479 PMID:26173966 PMID:26198225 PMID:26259135 PMID:26273102 PMID:26467025 PMID:26492543 PMID:27153395 PMID:27262318 PMID:27279923 PMID:27700540 PMID:27867439 PMID:27913608 PMID:28202063 PMID:28412079 PMID:28492532 PMID:28819017 PMID:28873162 PMID:29305721 PMID:29386252 PMID:29504908 PMID:29641532 PMID:29878124 PMID:30050099 PMID:30201732 PMID:30548481 PMID:30583724 PMID:30877234 PMID:31194233 PMID:31308404 PMID:31666924 PMID:32035780 PMID:32688340 PMID:32751108 PMID:33332384 PMID:33372952 PMID:33676450 PMID:33748650 PMID:34110302 PMID:34301805 PMID:34308366 PMID:34439371 PMID:34558728 PMID:34703596 PMID:34750850 PMID:35171114 PMID:35441217 PMID:35739278 PMID:36045543 PMID:36091175 PMID:36198483 PMID:36449569 More...
NCBI chr13:86,077,133...86,098,025
Ensembl chr13:83,544,652...83,566,253
G
Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal
ClinVar
PMID:9683583 PMID:10657297 PMID:11391798 PMID:12000816 PMID:12114404 PMID:19584903 PMID:20301715 PMID:21348866 PMID:22517554 PMID:23666964 PMID:24033266 PMID:25300370 PMID:25741868 PMID:26008905 PMID:26467025 PMID:27279923 PMID:28492532 More...
NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:50,944,704...50,954,238
G
Padi2
peptidyl arginine deiminase 2
ISO
ClinVar Annotator: match by term: Paragangliomas 4
ClinVar
PMID:18057081
NCBI chr 5:158,492,087...158,534,662
Ensembl chr 5:153,209,053...153,251,632
G
Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Paragangliomas 4
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
G
Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
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, extraadrenal and cervical paraganglioma | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 | ClinVar Annotator: match by term: Paragangliomas 4 | ClinVar Annotator: match by term: Pheochromocytoma, extraadrenal and cervical paraganglioma | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal
OMIM ClinVar
PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 PMID:11897817 PMID:12000816 PMID:12213855 PMID:12362046 PMID:12364472 PMID:12560550 PMID:12618761 PMID:12807974 PMID:13129931 PMID:14500403 PMID:14685938 PMID:14715873 PMID:14974914 PMID:14985401 PMID:15235042 PMID:15328326 PMID:15476441 PMID:15531530 PMID:15987702 PMID:15988378 PMID:15989954 PMID:16080530 PMID:16103922 PMID:16199547 PMID:16258955 PMID:16288654 PMID:16304664 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16472267 PMID:16912137 PMID:16916404 PMID:16982587 PMID:17102082 PMID:17102083 PMID:17102084 PMID:17102086 PMID:17143317 PMID:17200167 PMID:17298551 PMID:17308434 PMID:17376234 PMID:17487275 PMID:17538171 PMID:17576681 PMID:17634472 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17884808 PMID:17943698 PMID:17987308 PMID:18057081 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18502330 PMID:18519664 PMID:18551016 PMID:18678321 PMID:18728283 PMID:18753105 PMID:18840642 PMID:19001511 PMID:19064958 PMID:19075037 PMID:19153209 PMID:19184535 PMID:19189136 PMID:19215943 PMID:19258401 PMID:19261679 PMID:19261994 PMID:19351833 PMID:19368708 PMID:19389109 PMID:19393419 PMID:19399650 PMID:19411806 PMID:19415531 PMID:19454582 PMID:19522823 PMID:19576851 PMID:19596260 PMID:19694205 PMID:19763184 PMID:19768395 PMID:19802898 PMID:19825962 PMID:19927285 PMID:20119652 PMID:20208144 PMID:20213850 PMID:20418362 PMID:20459544 PMID:20503330 PMID:20505258 PMID:20540712 PMID:20583550 PMID:20592014 PMID:20605972 PMID:20614293 PMID:20702724 PMID:20923864 PMID:20960097 PMID:20981092 PMID:21172883 PMID:21173220 PMID:21348866 PMID:21520333 PMID:21561462 PMID:21565294 PMID:21784903 PMID:21820839 PMID:21822798 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22041710 PMID:22109755 PMID:22241717 PMID:22270996 PMID:22293219 PMID:22429592 PMID:22430264 PMID:22492777 PMID:22517554 PMID:22517557 PMID:22573489 PMID:22584711 PMID:22677546 PMID:22703879 PMID:22829200 PMID:22835832 PMID:22904323 PMID:22938532 PMID:22972948 PMID:22995128 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23318864 PMID:23407919 PMID:23434467 PMID:23512077 PMID:23612575 PMID:23640968 PMID:23660872 PMID:23666964 PMID:23735539 PMID:23780556 PMID:23797725 PMID:23902947 PMID:23934599 PMID:24033266 PMID:24055113 PMID:24092654 PMID:24096523 PMID:24102379 PMID:24134185 PMID:24276837 PMID:24395865 PMID:24436918 PMID:24466223 PMID:24509376 PMID:24523625 PMID:24606901 PMID:24623741 PMID:24659481 PMID:24728327 PMID:24735130 PMID:24781345 PMID:24939699 PMID:25025441 PMID:25047027 PMID:25130709 PMID:25151137 PMID:25215250 PMID:25298897 PMID:25326637 PMID:25333069 PMID:25371406 PMID:25376524 PMID:25394176 PMID:25405498 PMID:25494863 PMID:25595276 PMID:25637381 PMID:25683602 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25736212 PMID:25741868 PMID:25791839 PMID:25827221 PMID:25873086 PMID:25972245 PMID:26071763 PMID:26092435 PMID:26096992 PMID:26102504 PMID:26173966 PMID:26182300 PMID:26198225 PMID:26236513 PMID:26259135 PMID:26269449 PMID:26273102 PMID:26283294 PMID:26302408 PMID:26332594 PMID:26467025 PMID:26556299 PMID:26642834 PMID:26719882 PMID:26749241 PMID:26916530 PMID:26925370 PMID:26960314 PMID:27011036 PMID:27159321 PMID:27171833 PMID:27279923 PMID:27539324 PMID:27542510 PMID:27549546 PMID:27573198 PMID:27604842 PMID:27634942 PMID:27785149 PMID:27819762 PMID:27867439 PMID:27882345 PMID:27974047 PMID:28070496 PMID:28152038 PMID:28179334 PMID:28220018 PMID:28229225 PMID:28255624 PMID:28284009 PMID:28324028 PMID:28349240 PMID:28369925 PMID:28374168 PMID:28409892 PMID:28469506 PMID:28490599 PMID:28492532 PMID:28503760 PMID:28646318 PMID:28738844 PMID:28784873 PMID:28819017 PMID:28873162 PMID:28891197 PMID:28944243 PMID:28973655 PMID:29386252 PMID:29504908 PMID:29510530 PMID:29623478 PMID:29684080 PMID:29909963 PMID:29925701 PMID:29951630 PMID:30050099 PMID:30087776 PMID:30122763 PMID:30152102 PMID:30155846 PMID:30201732 PMID:30217213 PMID:30352407 PMID:30487145 PMID:30536464 PMID:30658386 PMID:30877234 PMID:31194233 PMID:31212687 PMID:31216007 PMID:31308404 PMID:31365623 PMID:31431315 PMID:31492822 PMID:31579262 PMID:31666924 PMID:31705439 PMID:31780696 PMID:31883676 PMID:32023584 PMID:32035780 PMID:32124427 PMID:32460727 PMID:32462735 PMID:32659967 PMID:32661476 PMID:32688340 PMID:32741965 PMID:32782288 PMID:32859697 PMID:32863293 PMID:32963463 PMID:32971818 PMID:33219105 PMID:33300499 PMID:33362715 PMID:33391357 PMID:33397040 PMID:33420946 PMID:33558524 PMID:33564614 PMID:33628464 PMID:33748650 PMID:34052969 PMID:34069252 PMID:34072806 PMID:34095481 PMID:34118692 PMID:34255389 PMID:34308366 PMID:34309460 PMID:34313605 PMID:34326862 PMID:34377882 PMID:34426522 PMID:34439168 PMID:34439371 PMID:34452955 PMID:34466344 PMID:34490615 PMID:34654328 PMID:34703596 PMID:34750850 PMID:34906457 PMID:34939938 PMID:34940133 PMID:34949766 PMID:35060925 PMID:35127314 PMID:35171114 PMID:35441217 PMID:35460558 PMID:35546442 PMID:35673401 PMID:35739278 PMID:35869040 PMID:35870552 PMID:35904169 PMID:35957908 PMID:36200007 PMID:36387130 PMID:36597280 PMID:36786389 PMID:37529773 PMID:37734265 PMID:37840772 PMID:38473309 More...
NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293
G
Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Paragangliomas 4
ClinVar
PMID:9683583 PMID:10657297 PMID:11391798 PMID:12000816 PMID:12114404 PMID:19584903 PMID:20301715 PMID:21348866 PMID:25300370 PMID:25741868 PMID:26008905 PMID:27279923 PMID:28492532 More...
NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:50,944,704...50,954,238
G
Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 5 | ClinVar Annotator: match by term: Paragangliomas 5
OMIM ClinVar
PMID:1492653 PMID:7550341 PMID:9536098 PMID:10721988 PMID:10746566 PMID:11423010 PMID:12525685 PMID:15989954 PMID:16195397 PMID:16199547 PMID:16361598 PMID:16798039 PMID:17298551 PMID:17376234 PMID:17576681 PMID:17889661 PMID:19179534 PMID:19628817 PMID:20484225 PMID:20489732 PMID:21505157 PMID:21752896 PMID:21858060 PMID:22429592 PMID:22677546 PMID:22904323 PMID:22955521 PMID:22974104 PMID:23043141 PMID:23060355 PMID:23109135 PMID:23154507 PMID:23174939 PMID:23252569 PMID:23282968 PMID:23612575 PMID:23666964 PMID:23730622 PMID:23750034 PMID:23833252 PMID:24033266 PMID:24096523 PMID:24448499 PMID:24694336 PMID:24781757 PMID:25363768 PMID:25394176 PMID:25405498 PMID:25488574 PMID:25494863 PMID:25525159 PMID:25595276 PMID:25720320 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26198225 PMID:26259135 PMID:26269449 PMID:26334176 PMID:26467025 PMID:26490314 PMID:26556299 PMID:26642834 PMID:26689913 PMID:26722403 PMID:26833332 PMID:27011036 PMID:27390349 PMID:27493882 PMID:27535533 PMID:27683039 PMID:27847310 PMID:27895137 PMID:27986441 PMID:28070496 PMID:28380452 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28546994 PMID:28552549 PMID:28615448 PMID:28714951 PMID:28724664 PMID:28750076 PMID:28798025 PMID:28819017 PMID:28873162 PMID:29177515 PMID:29483670 PMID:29488078 PMID:29625052 PMID:29695869 PMID:29773157 PMID:29804836 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30050099 PMID:30068732 PMID:30201732 PMID:30455982 PMID:30680959 PMID:30775854 PMID:30854332 PMID:30877234 PMID:30949620 PMID:31069529 PMID:31212687 PMID:31263571 PMID:31368675 PMID:31413764 PMID:31512412 PMID:31527833 PMID:31589614 PMID:31665838 PMID:31794323 PMID:31827275 PMID:31981491 PMID:32091409 PMID:32255556 PMID:32373528 PMID:32461654 PMID:32561571 PMID:32570879 PMID:32581362 PMID:32621582 PMID:32688340 PMID:32741965 PMID:32782288 PMID:32887801 PMID:32971818 PMID:33077847 PMID:33162331 PMID:33362715 PMID:33372952 PMID:33606809 PMID:33674644 PMID:33726816 PMID:33854214 PMID:33960148 PMID:34014604 PMID:34286374 PMID:34308366 PMID:34363016 PMID:34645491 PMID:34711244 PMID:34732400 PMID:34750850 PMID:34754157 PMID:35014173 PMID:35059314 PMID:35171114 PMID:35372080 PMID:35441217 PMID:35546442 PMID:35586626 PMID:35598585 PMID:35626111 PMID:35988656 PMID:36010880 PMID:36149413 PMID:36253524 PMID:36593350 PMID:36757698 PMID:36980917 PMID:37536918 PMID:37575640 PMID:37904629 PMID:38473309 PMID:39113632 More...
NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
G
Zmynd11
zinc finger, MYND-type containing 11
ISO
ClinVar Annotator: match by term: Paragangliomas 5
ClinVar
NCBI chr17:65,226,907...65,323,278
Ensembl chr17:60,543,077...60,631,902
G
Slc25a11
solute carrier family 25 member 11
ISO
ClinVar Annotator: match by term: Paragangliomas 6 | ClinVar Annotator: match by term: SLC25A11-related condition
OMIM ClinVar
PMID:28492532 PMID:29431636
NCBI chr10:55,856,209...55,859,060
Ensembl chr10:55,357,597...55,360,410
G
Dlst
dihydrolipoamide S-succinyltransferase
ISO
ClinVar Annotator: match by term: DLST-related condition | ClinVar Annotator: match by term: Paragangliomas 7
OMIM ClinVar
PMID:25741868 PMID:28492532 PMID:30929736
NCBI chr 6:110,489,576...110,512,841
Ensembl chr 6:104,758,631...104,783,296
G
Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss
ClinVar
PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11605159 PMID:11897812 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12114404 PMID:12218630 PMID:12364472 PMID:12386824 PMID:12509798 PMID:12696072 PMID:12782822 PMID:12807974 PMID:12811540 PMID:14557476 PMID:14974914 PMID:15032977 PMID:15066320 PMID:15235042 PMID:15328326 PMID:15331017 PMID:15479192 PMID:15623805 PMID:15774781 PMID:15905695 PMID:16061558 PMID:16080474 PMID:16199547 PMID:16314641 PMID:16317055 PMID:17041923 PMID:17102085 PMID:17208193 PMID:17308434 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17973943 PMID:18414213 PMID:18551016 PMID:18678321 PMID:18692411 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19454582 PMID:19550080 PMID:19584903 PMID:19802898 PMID:19825962 PMID:20301715 PMID:20418362 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22170724 PMID:22241717 PMID:22290790 PMID:22456618 PMID:22517554 PMID:22566157 PMID:22566194 PMID:22575350 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23083876 PMID:23175444 PMID:23433498 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24134185 PMID:24367056 PMID:24436918 PMID:24728327 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25058219 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25328978 PMID:25376524 PMID:25494863 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25741136 PMID:25741868 PMID:25791839 PMID:25819804 PMID:25985138 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27073498 PMID:27153395 PMID:27279923 PMID:27634942 PMID:27700540 PMID:27856506 PMID:27867439 PMID:27913608 PMID:28128698 PMID:28164237 PMID:28179334 PMID:28492532 PMID:28552549 PMID:28873162 PMID:28975465 PMID:28977582 PMID:29386252 PMID:29504908 PMID:29510530 PMID:29545045 PMID:29625052 PMID:29681642 PMID:29777207 PMID:29792313 PMID:29875428 PMID:29925701 PMID:30050099 PMID:30093976 PMID:30273935 PMID:30375904 PMID:30484866 PMID:30548481 PMID:30877234 PMID:30951038 PMID:31104306 PMID:31194233 PMID:31492822 PMID:31508186 PMID:31666924 PMID:31834447 PMID:32035780 PMID:32098148 PMID:32472550 PMID:32561571 PMID:32659967 PMID:32741965 PMID:32971818 PMID:33219105 PMID:33362715 PMID:33391357 PMID:33748650 PMID:34012134 PMID:34072806 PMID:34439168 PMID:34750850 PMID:34877445 PMID:34906457 PMID:34907111 PMID:35626065 PMID:35668420 PMID:35739269 PMID:35938916 PMID:35966080 PMID:38144572 More...
NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:50,944,704...50,954,238
G
Anxa1
annexin A1
ISO
RGD
PMID:20970165
RGD:7421559
NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343
G
Anxa2
annexin A2
disease_progression
ISO
RGD
PMID:20970165
RGD:7421559
NCBI chr 8:78,986,252...79,022,638
Ensembl chr 8:70,105,253...70,141,658
G
Tp53
tumor protein p53
treatment
ISO
DNA:mutations:cds:
RGD
PMID:22575263 PMID:23369851
RGD:8547763 , RGD:8547764
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
G
Casr
calcium-sensing receptor
ISO
ClinVar Annotator: match by term: Parathyroid adenoma
ClinVar
PMID:8675635 PMID:8878438 PMID:15591042 PMID:17284438 PMID:19389809 PMID:19779033 PMID:22798347 PMID:23372019 PMID:25741868 PMID:26467025 PMID:26963950 PMID:28492532 More...
NCBI chr11:77,738,398...77,813,639
Ensembl chr11:64,235,251...64,304,811
G
Cdc73
cell division cycle 73
ISO
ClinVar Annotator: match by term: Parathyroid adenoma, somatic
ClinVar
PMID:12434154 PMID:15531515 PMID:16061557 PMID:16199547 PMID:25741868 PMID:28492532 More...
NCBI chr13:57,897,924...58,000,031
Ensembl chr13:55,357,226...55,449,656
G
Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Parathyroid adenoma
ClinVar
PMID:25741868 PMID:35738466
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
G
Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Parathyroid adenoma
ClinVar
PMID:25741868 PMID:35738466
NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172
G
Men1
menin 1
ISO
ClinVar Annotator: match by term: Parathyroid adenoma, somatic
ClinVar
PMID:9241276 PMID:9820618 PMID:12016472 PMID:20231234 PMID:28492532
NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871
G
Ccnd1
cyclin D1
ISO
protein:increased expression:nucleus
RGD
PMID:17695500
RGD:2289129
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
G
Ptges
prostaglandin E synthase
ISO
protein:increased expression:penis, skin
RGD
PMID:14871981
RGD:2300087
NCBI chr 3:34,575,643...34,586,987
G
Top2a
DNA topoisomerase II alpha
severity
ISO
RGD
PMID:18489530
RGD:2315128
NCBI chr10:84,441,954...84,473,093
Ensembl chr10:83,945,735...83,976,874
G
Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Periampullary adenoma
ClinVar
PMID:25741868 PMID:27087319 PMID:28492532 PMID:32860008
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
G
Adra2b
adrenoceptor alpha 2B
ISO
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
PMID:20301715
NCBI chr 3:135,038,481...135,042,527
Ensembl chr 3:114,585,169...114,589,355
G
Astl
astacin like metalloendopeptidase
ISO
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
PMID:20301715
NCBI chr 3:135,016,444...135,032,177
Ensembl chr 3:114,563,135...114,578,868
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
IAGP
RGD
PMID:12036912
RGD:619590
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
G
Cdkn1bwe
cyclin-dependent kinase inhibitor 1B; white eye mutation
IAGP
RGD
PMID:12036912
RGD:619590
G
Cfap126
cilia and flagella associated protein 126
ISO
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
NCBI chr13:86,059,142...86,075,034
Ensembl chr13:83,526,657...83,542,552
G
Chga
chromogranin A
disease_progression
ISO
CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:11116123 PMID:2189303
RGD:6906907
NCBI chr 6:127,460,895...127,472,238
Ensembl chr 6:121,696,051...121,707,398
G
Comt
catechol-O-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22569243
NCBI chr11:96,072,371...96,091,956
Ensembl chr11:82,568,025...82,587,642
G
Dbh
dopamine beta-hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22569243
NCBI chr 3:30,886,313...30,903,313
Ensembl chr 3:10,488,260...10,505,248
G
Ddc
dopa decarboxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22569243
NCBI chr14:90,592,304...90,682,830
Ensembl chr14:86,378,685...86,469,208
G
Dmbt1
deleted in malignant brain tumors 1
IEP
mRNA:decreased expression
RGD
PMID:17102098
RGD:1599780
NCBI chr 1:195,047,702...195,126,704
Ensembl chr 1:185,617,294...185,696,478
G
Dusp2
dual specificity phosphatase 2
ISO
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
PMID:20301715
NCBI chr 3:135,009,636...135,011,821
Ensembl chr 3:114,556,325...114,558,499
G
Fntb
farnesyltransferase, CAAX box, subunit beta
ISO
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
NCBI chr 6:101,269,657...101,352,716
Ensembl chr 6:95,470,683...95,619,586
G
Gdnf
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9215674
NCBI chr 2:58,621,327...58,647,242
Ensembl chr 2:56,895,010...56,917,209
G
Gpat2
glycerol-3-phosphate acyltransferase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
PMID:20301715
NCBI chr 3:114,646,446...114,657,051
Ensembl chr 3:114,648,498...114,657,051
G
Hsd17b10
hydroxysteroid (17-beta) dehydrogenase 10
ISO
RGD
PMID:25879199
RGD:13792787
NCBI chr X:24,568,551...24,571,012
Ensembl chr X:21,089,122...21,109,488
G
Kif1b
kinesin family member 1B
ISO
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
PMID:18334619 PMID:24033266 PMID:25741868 PMID:26392352 PMID:28492532 PMID:32376792 PMID:32419263 More...
NCBI chr 5:164,890,778...165,025,848
Ensembl chr 5:159,561,271...159,742,778
G
L1cam
L1 cell adhesion molecule
ISO
mRNA,protein:increased expression:adrenal medulla:
RGD
PMID:20937862
RGD:11570409
NCBI chr X:156,748,597...156,775,116
Ensembl chr X:151,597,277...151,623,857
G
Maoa
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22569243
NCBI chr X:8,615,239...8,681,372
Ensembl chr X:6,030,795...6,099,593
G
Maob
monoamine oxidase B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22569243
NCBI chr X:8,490,405...8,594,065
Ensembl chr X:5,907,266...6,011,003
G
Max
MYC associated factor X
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to
CTD OMIM ClinVar
PMID:1459463 PMID:1730412 PMID:7630640 PMID:9536098 PMID:17576681 PMID:21685915 PMID:22452945 PMID:23551045 PMID:23666964 PMID:25741868 PMID:26070438 PMID:26269449 PMID:26467025 PMID:27838885 PMID:28152038 PMID:28492532 PMID:28552549 PMID:34130653 PMID:35441217 More...
NCBI chr 6:101,369,989...101,395,333
Ensembl chr 6:95,636,858...95,662,137
G
Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr13:86,103,290...86,109,156
Ensembl chr13:83,570,811...83,576,679
G
Nf1
neurofibromin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pheochromocytoma
CTD ClinVar
PMID:1568247 PMID:8264648 PMID:8499944 PMID:8499945 PMID:8669813 PMID:9003501 PMID:9219873 PMID:11151443 PMID:11857752 PMID:12095621 PMID:14722917 PMID:16380919 PMID:16513807 PMID:16786508 PMID:18546366 PMID:22155606 PMID:22807134 PMID:23244495 PMID:24033266 PMID:25325900 PMID:25741868 PMID:26467025 PMID:26840085 PMID:27322474 PMID:27716896 PMID:28492532 PMID:29290338 PMID:29415745 PMID:29673180 PMID:31595648 PMID:32107864 More...
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
G
Ret
ret proto-oncogene
IEP ISO ISS
protein:increased expression:adrenal gland medulla ClinVar Annotator: match by term: Pheochromocytoma ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to OMIM:171300 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:2008030 PMID:2639553 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 PMID:7581377 PMID:7595170 PMID:7595171 PMID:7608256 PMID:7647787 PMID:7704557 PMID:7824936 PMID:7835899 PMID:7845675 PMID:7849700 PMID:7860065 PMID:7874109 PMID:7881414 PMID:7906417 PMID:7906866 PMID:7907913 PMID:7911697 PMID:7914213 PMID:7915165 PMID:7915166 PMID:7915822 PMID:7977365 PMID:8099202 PMID:8103403 PMID:8114938 PMID:8570194 PMID:8595427 PMID:8757765 PMID:8765374 PMID:8782503 PMID:8797874 PMID:8909322 PMID:8918855 PMID:9067749 PMID:9090527 PMID:9111993 PMID:9230192 PMID:9242375 PMID:9263528 PMID:9398735 PMID:9452077 PMID:9467562 PMID:9506724 PMID:9536098 PMID:9606292 PMID:9620546 PMID:9681850 PMID:9699127 PMID:9727738 PMID:9760196 PMID:9820617 PMID:9839497 PMID:9879991 PMID:9950371 PMID:10024437 PMID:10076558 PMID:10369718 PMID:10445857 PMID:10522989 PMID:10528857 PMID:10646792 PMID:10679286 PMID:10790203 PMID:10826520 PMID:10876191 PMID:10980580 PMID:11114642 PMID:11230481 PMID:11238493 PMID:11295841 PMID:11351254 PMID:11389085 PMID:11436122 PMID:11524247 PMID:11589684 PMID:11688458 PMID:11732489 PMID:11739416 PMID:11788682 PMID:11849247 PMID:11900218 PMID:11939755 PMID:11950855 PMID:11953745 PMID:11955539 PMID:11987030 PMID:12000816 PMID:12016484 PMID:12019403 PMID:12086152 PMID:12150334 PMID:12193298 PMID:12214285 PMID:12410354 PMID:12466368 PMID:12566528 PMID:12604374 PMID:12686527 PMID:12746565 PMID:12864791 PMID:12872262 PMID:12920219 PMID:14561794 PMID:14566559 PMID:14602786 PMID:14627689 PMID:14633923 PMID:15184865 PMID:15277225 PMID:15292360 PMID:15320968 PMID:15331579 PMID:15386323 PMID:15472167 PMID:15531714 PMID:15588376 PMID:15588381 PMID:15592804 PMID:15741265 PMID:15753368 PMID:15834508 PMID:15844786 PMID:15858153 PMID:15870131 PMID:15933516 PMID:15956201 PMID:16091499 PMID:16099853 PMID:16118333 PMID:16314641 PMID:16343097 PMID:16424056 PMID:16441254 PMID:16469774 PMID:16525712 PMID:16532227 PMID:16649977 PMID:16705552 PMID:16707008 PMID:16715139 PMID:16732321 PMID:16778204 PMID:16817830 PMID:16849421 PMID:16865646 PMID:16865647 PMID:16868135 PMID:16928683 PMID:16986122 PMID:17009072 PMID:17021738 PMID:17032739 PMID:17047083 PMID:17065770 PMID:17102080 PMID:17102083 PMID:17108110 PMID:17108762 PMID:17178962 PMID:17188172 PMID:17209045 PMID:17270543 PMID:17316110 PMID:17344846 PMID:17384210 PMID:17466010 PMID:17483988 PMID:17540634 PMID:17573899 PMID:17576681 PMID:17590169 PMID:17605401 PMID:17610518 PMID:17639058 PMID:17664273 PMID:17704047 PMID:17895320 PMID:17898100 PMID:17963006 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18073307 PMID:18096130 PMID:18209889 PMID:18252215 PMID:18284634 PMID:18299477 PMID:18322301 PMID:18541894 PMID:18551016 PMID:18772120 PMID:18805915 PMID:18936155 PMID:19015274 PMID:19041016 PMID:19062722 PMID:19169500 PMID:19201392 PMID:19255327 PMID:19269918 PMID:19399650 PMID:19445625 PMID:19469690 PMID:19472011 PMID:19522830 PMID:19775624 PMID:19825962 PMID:19826964 PMID:19906784 PMID:19958926 PMID:20039896 PMID:20065189 PMID:20080836 PMID:20103606 PMID:20123584 PMID:20142552 PMID:20368568 PMID:20369307 PMID:20454948 PMID:20473317 PMID:20494215 PMID:20497437 PMID:20516206 PMID:20532249 PMID:20554711 PMID:20672905 PMID:20719260 PMID:20739875 PMID:20801952 PMID:20847059 PMID:20943719 PMID:20956458 PMID:20981092 PMID:21134561 PMID:21253810 PMID:21309721 PMID:21311890 PMID:21349203 PMID:21422803 PMID:21449769 PMID:21454698 PMID:21455200 PMID:21470995 PMID:21479187 PMID:21490379 PMID:21551259 PMID:21552134 PMID:21655256 PMID:21678021 PMID:21690267 PMID:21711375 PMID:21765987 PMID:21810974 PMID:21834681 PMID:21986619 PMID:21995290 PMID:22025146 PMID:22068382 PMID:22111543 PMID:22174939 PMID:22199277 PMID:22233172 PMID:22359510 PMID:22395866 PMID:22517557 PMID:22574178 PMID:22584709 PMID:22584710 PMID:22648184 PMID:22676047 PMID:22676344 PMID:22703879 PMID:22729463 PMID:22837065 PMID:22865907 PMID:22900816 PMID:22992277 PMID:22995991 PMID:23056499 PMID:23059849 PMID:23067224 PMID:23084198 PMID:23210566 PMID:23295303 PMID:23341727 PMID:23416954 PMID:23441071 PMID:23461807 PMID:23468374 PMID:23514012 PMID:23527089 PMID:23617071 PMID:23660872 PMID:23723040 PMID:23849459 PMID:23861463 PMID:24033266 PMID:24055113 PMID:24331334 PMID:24336963 PMID:24361808 PMID:24375508 PMID:24429398 PMID:24442913 PMID:24449023 PMID:24560924 PMID:24561444 PMID:24617864 PMID:24651702 PMID:24684035 PMID:24699901 PMID:24716929 PMID:24728327 PMID:24745698 PMID:24755471 PMID:24784869 PMID:24845513 PMID:24897126 PMID:25027091 PMID:25143909 PMID:25157968 PMID:25256751 PMID:25319874 PMID:25349307 PMID:25425582 PMID:25440022 PMID:25501606 PMID:25515555 PMID:25569433 PMID:25624014 PMID:25628771 PMID:25637381 PMID:25695224 PMID:25733075 PMID:25741868 PMID:25759805 PMID:25810047 PMID:25887804 PMID:25903693 PMID:25985138 PMID:26033033 PMID:26046350 PMID:26071011 PMID:26076779 PMID:26084817 PMID:26206375 PMID:26230854 PMID:26269449 PMID:26332594 PMID:26343384 PMID:26356818 PMID:26395553 PMID:26467025 PMID:26489027 PMID:26556299 PMID:26580448 PMID:26678667 PMID:26687385 PMID:26732158 PMID:26758973 PMID:26845104 PMID:26876062 PMID:26883533 PMID:26920351 PMID:27077130 PMID:27099842 PMID:27153395 PMID:27379493 PMID:27525386 PMID:27527004 PMID:27539324 PMID:27600092 PMID:27673361 PMID:27698838 PMID:27704398 PMID:27782108 PMID:27798940 PMID:27807060 PMID:27809725 PMID:27884173 PMID:28099363 PMID:28125075 PMID:28166811 PMID:28186607 PMID:28323957 PMID:28469506 PMID:28492532 PMID:28566479 PMID:28569245 PMID:28578594 PMID:28647780 PMID:28873162 PMID:28946813 PMID:28951487 PMID:29026273 PMID:29133048 PMID:29192238 PMID:29197744 PMID:29263839 PMID:29397600 PMID:29408964 PMID:29420094 PMID:29549836 PMID:29590403 PMID:29625052 PMID:29641532 PMID:29642553 PMID:29656518 PMID:29684080 PMID:30217742 PMID:30306255 PMID:30392857 PMID:30583724 PMID:30624503 PMID:30644554 PMID:30660595 PMID:30680046 PMID:30763276 PMID:30927507 PMID:31019283 PMID:31159747 PMID:31263477 PMID:31428572 PMID:31431315 PMID:31510104 PMID:31614935 PMID:31658439 PMID:32099073 PMID:32164334 PMID:32179705 PMID:32283892 PMID:32293499 PMID:32375120 PMID:32732076 PMID:32761341 PMID:32923848 PMID:32989896 PMID:33167350 PMID:33219105 PMID:33340421 PMID:33397040 PMID:33450337 PMID:33563768 PMID:33615670 PMID:33763905 PMID:33777662 PMID:33827484 PMID:34439168 PMID:34441382 PMID:34629742 PMID:34637071 PMID:34777782 PMID:34881033 PMID:34885201 PMID:34905813 PMID:34925234 PMID:34979951 PMID:35264596 PMID:35304457 PMID:35534704 PMID:35627249 PMID:35957908 PMID:36166639 PMID:36451132 PMID:36780067 PMID:36900098 PMID:36900197 PMID:37529773 PMID:37937776 PMID:38253735 PMID:18317952 More...
RGD:2324930
NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176
G
Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
PMID:16199547 PMID:22974104 PMID:24781757 PMID:25741868 PMID:26467025 PMID:26556299 PMID:28384794 PMID:28492532 PMID:29177515 PMID:30877234 PMID:31263571 PMID:32782288 PMID:34750850 More...
NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
G
Sdhaf2
succinate dehydrogenase complex assembly factor 2
ISO
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
PMID:28492532
NCBI chr 1:207,139,070...207,167,830
Ensembl chr 1:207,139,112...207,168,616
G
Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
OMIM:171300;DNA:deletion:725delC ClinVar Annotator: match by term: Pheochromocytoma ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to
ClinVar RGD
PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 PMID:11897817 PMID:12000816 PMID:12213855 PMID:12362046 PMID:12364472 PMID:12560550 PMID:12618761 PMID:12807974 PMID:13129931 PMID:14500403 PMID:14685938 PMID:14715873 PMID:14974914 PMID:14985401 PMID:15235042 PMID:15328326 PMID:15476441 PMID:15987702 PMID:15988378 PMID:15989954 PMID:16080530 PMID:16103922 PMID:16199547 PMID:16258955 PMID:16288654 PMID:16304664 PMID:16314641 PMID:16317055 PMID:16322339 PMID:16405730 PMID:16472267 PMID:16912137 PMID:16916404 PMID:16982587 PMID:17102082 PMID:17102083 PMID:17102084 PMID:17102086 PMID:17143317 PMID:17200167 PMID:17298551 PMID:17308434 PMID:17376234 PMID:17487275 PMID:17538171 PMID:17576681 PMID:17634472 PMID:17639058 PMID:17652212 PMID:17667967 PMID:17804857 PMID:17848412 PMID:17884808 PMID:17943698 PMID:17987308 PMID:18362451 PMID:18382370 PMID:18419787 PMID:18502330 PMID:18519664 PMID:18551016 PMID:18678321 PMID:18728283 PMID:18753105 PMID:18840642 PMID:19001511 PMID:19064958 PMID:19075037 PMID:19153209 PMID:19184535 PMID:19189136 PMID:19215943 PMID:19258401 PMID:19261994 PMID:19351833 PMID:19368708 PMID:19389109 PMID:19393419 PMID:19399650 PMID:19411806 PMID:19415531 PMID:19454582 PMID:19522823 PMID:19576851 PMID:19596260 PMID:19694205 PMID:19763184 PMID:19768395 PMID:19802898 PMID:19825962 PMID:19927285 PMID:20119652 PMID:20208144 PMID:20213850 PMID:20418362 PMID:20459544 PMID:20503330 PMID:20505258 PMID:20540712 PMID:20583550 PMID:20592014 PMID:20605972 PMID:20614293 PMID:20923864 PMID:20960097 PMID:20981092 PMID:21172883 PMID:21173220 PMID:21348866 PMID:21520333 PMID:21561462 PMID:21565294 PMID:21784903 PMID:21820839 PMID:21822798 PMID:21909610 PMID:21934479 PMID:21979946 PMID:22041710 PMID:22109755 PMID:22241717 PMID:22270996 PMID:22293219 PMID:22429592 PMID:22492777 PMID:22517554 PMID:22517557 PMID:22573489 PMID:22584711 PMID:22677546 PMID:22703879 PMID:22829200 PMID:22835832 PMID:22904323 PMID:22938532 PMID:22972948 PMID:22995128 PMID:22995991 PMID:23072324 PMID:23083876 PMID:23175444 PMID:23282968 PMID:23318864 PMID:23407919 PMID:23434467 PMID:23512077 PMID:23640968 PMID:23666964 PMID:23735539 PMID:23797725 PMID:23902947 PMID:23934599 PMID:24033266 PMID:24055113 PMID:24092654 PMID:24096523 PMID:24102379 PMID:24134185 PMID:24276837 PMID:24395865 PMID:24436918 PMID:24466223 PMID:24509376 PMID:24523625 PMID:24606901 PMID:24623741 PMID:24659481 PMID:24728327 PMID:24735130 PMID:24781345 PMID:24939699 PMID:25025441 PMID:25047027 PMID:25130709 PMID:25151137 PMID:25215250 PMID:25298897 PMID:25326637 PMID:25333069 PMID:25371406 PMID:25376524 PMID:25394176 PMID:25494863 PMID:25595276 PMID:25637381 PMID:25683602 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25736212 PMID:25741868 PMID:25791839 PMID:25873086 PMID:25972245 PMID:26071763 PMID:26092435 PMID:26096992 PMID:26102504 PMID:26173966 PMID:26182300 PMID:26198225 PMID:26236513 PMID:26259135 PMID:26269449 PMID:26273102 PMID:26283294 PMID:26302408 PMID:26332594 PMID:26467025 PMID:26556299 PMID:26642834 PMID:26719882 PMID:26749241 PMID:26916530 PMID:26925370 PMID:26960314 PMID:27011036 PMID:27159321 PMID:27171833 PMID:27279923 PMID:27539324 PMID:27542510 PMID:27549546 PMID:27573198 PMID:27604842 PMID:27634942 PMID:27785149 PMID:27819762 PMID:27867439 PMID:27882345 PMID:27896548 PMID:27974047 PMID:28070496 PMID:28152038 PMID:28179334 PMID:28220018 PMID:28229225 PMID:28255624 PMID:28284009 PMID:28324028 PMID:28349240 PMID:28369925 PMID:28374168 PMID:28409892 PMID:28469506 PMID:28490599 PMID:28492532 PMID:28503760 PMID:28646318 PMID:28738844 PMID:28784873 PMID:28819017 PMID:28873162 PMID:28891197 PMID:28944243 PMID:28973655 PMID:29386252 PMID:29504908 PMID:29510530 PMID:29623478 PMID:29684080 PMID:29909963 PMID:29925701 PMID:29951630 PMID:30050099 PMID:30087776 PMID:30122763 PMID:30152102 PMID:30155846 PMID:30201732 PMID:30217213 PMID:30352407 PMID:30487145 PMID:30536464 PMID:30658386 PMID:30694796 PMID:30877234 PMID:31194233 PMID:31212687 PMID:31216007 PMID:31308404 PMID:31365623 PMID:31431315 PMID:31492822 PMID:31579262 PMID:31666924 PMID:31705439 PMID:31780696 PMID:31883676 PMID:32023584 PMID:32035780 PMID:32124427 PMID:32460727 PMID:32462735 PMID:32659967 PMID:32661476 PMID:32688340 PMID:32741965 PMID:32782288 PMID:32859697 PMID:32863293 PMID:32963463 PMID:32971818 PMID:33219105 PMID:33300499 PMID:33362715 PMID:33391357 PMID:33397040 PMID:33420946 PMID:33558524 PMID:33564614 PMID:33628464 PMID:33748650 PMID:33777662 PMID:34052969 PMID:34069252 PMID:34072806 PMID:34095481 PMID:34118692 PMID:34255389 PMID:34308366 PMID:34309460 PMID:34313605 PMID:34326862 PMID:34377882 PMID:34426522 PMID:34439168 PMID:34439371 PMID:34452955 PMID:34466344 PMID:34490615 PMID:34654328 PMID:34703596 PMID:34750850 PMID:34906457 PMID:34939938 PMID:34940133 PMID:35060925 PMID:35127314 PMID:35171114 PMID:35441217 PMID:35460558 PMID:35546442 PMID:35673401 PMID:35739278 PMID:35869040 PMID:35870552 PMID:35904169 PMID:35957908 PMID:36200007 PMID:36288950 PMID:36387130 PMID:36597280 PMID:36786389 PMID:37529773 PMID:37734265 PMID:38473309 PMID:163114641 PMID:11404820 More...
RGD:1624151
NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293
G
Sdhc
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
PMID:12807974 PMID:17468193 PMID:19454582 PMID:22517554 PMID:22703879 PMID:23342407 PMID:24033266 PMID:24728327 PMID:25637381 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr13:86,077,133...86,098,025
Ensembl chr13:83,544,652...83,566,253
G
Sdhd
succinate dehydrogenase complex subunit D
ISO
ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to
ClinVar
PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 PMID:10657297 PMID:10846047 PMID:11156372 PMID:11343322 PMID:11391796 PMID:11391798 PMID:11526495 PMID:11605159 PMID:11897812 PMID:11897817 PMID:12000816 PMID:12007193 PMID:12111639 PMID:12114404 PMID:12218630 PMID:12364472 PMID:12386824 PMID:12509798 PMID:12696072 PMID:12782822 PMID:12807974 PMID:12811540 PMID:14557476 PMID:14974914 PMID:15032977 PMID:15066320 PMID:15235042 PMID:15328326 PMID:15331017 PMID:15479192 PMID:15623805 PMID:15774781 PMID:15905695 PMID:16061558 PMID:16080474 PMID:16199547 PMID:16314641 PMID:16317055 PMID:17041923 PMID:17102085 PMID:17208193 PMID:17308434 PMID:17406045 PMID:17563904 PMID:17576205 PMID:17576681 PMID:17667967 PMID:17804857 PMID:17973943 PMID:18414213 PMID:18551016 PMID:18678321 PMID:18692411 PMID:18826997 PMID:19075037 PMID:19258401 PMID:19351833 PMID:19454582 PMID:19550080 PMID:19584903 PMID:19802898 PMID:19825962 PMID:20301715 PMID:20418362 PMID:21348866 PMID:21565294 PMID:21792967 PMID:21937622 PMID:21945342 PMID:21979946 PMID:22170724 PMID:22241717 PMID:22290790 PMID:22456618 PMID:22517554 PMID:22566157 PMID:22566194 PMID:22575350 PMID:22584711 PMID:22703879 PMID:22829200 PMID:23083876 PMID:23175444 PMID:23433498 PMID:23512077 PMID:23666964 PMID:24033266 PMID:24102379 PMID:24134185 PMID:24367056 PMID:24436918 PMID:24728327 PMID:24758185 PMID:24886695 PMID:25014000 PMID:25058219 PMID:25149476 PMID:25275255 PMID:25300370 PMID:25326637 PMID:25328978 PMID:25376524 PMID:25494863 PMID:25637381 PMID:25694510 PMID:25695889 PMID:25720320 PMID:25741136 PMID:25741868 PMID:25791839 PMID:25819804 PMID:25985138 PMID:26008905 PMID:26096992 PMID:26269449 PMID:26467025 PMID:27073498 PMID:27153395 PMID:27279923 PMID:27634942 PMID:27700540 PMID:27785149 PMID:27856506 PMID:27867439 PMID:27913608 PMID:28128698 PMID:28164237 PMID:28179334 PMID:28492532 PMID:28552549 PMID:28873162 PMID:28975465 PMID:28977582 PMID:29386252 PMID:29504908 PMID:29510530 PMID:29545045 PMID:29625052 PMID:29681642 PMID:29777207 PMID:29792313 PMID:29875428 PMID:29925701 PMID:30050099 PMID:30093976 PMID:30273935 PMID:30375904 PMID:30484866 PMID:30548481 PMID:30877234 PMID:30951038 PMID:31104306 PMID:31194233 PMID:31492822 PMID:31508186 PMID:31666924 PMID:31834447 PMID:32035780 PMID:32098148 PMID:32472550 PMID:32561571 PMID:32659967 PMID:32741965 PMID:32971818 PMID:33219105 PMID:33362715 PMID:33391357 PMID:33748650 PMID:34012134 PMID:34072806 PMID:34439168 PMID:34750850 PMID:34877445 PMID:34906457 PMID:34907111 PMID:35626065 PMID:35668420 PMID:35739269 PMID:35938916 PMID:35966080 PMID:38144572 More...
NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:50,944,704...50,954,238
G
Stard7
StAR-related lipid transfer domain containing 7
ISO
ClinVar Annotator: match by term: Pheochromocytoma
ClinVar
PMID:20301715
NCBI chr 3:134,935,602...134,969,140
Ensembl chr 3:114,485,600...114,515,813
G
Th
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22569243
NCBI chr 1:207,500,959...207,508,276
Ensembl chr 1:198,071,503...198,109,767
G
Tmem127
transmembrane protein 127
susceptibility
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to
CTD ClinVar OMIM
PMID:9536098 PMID:16266984 PMID:17576681 PMID:20154675 PMID:20301715 PMID:20923864 PMID:21156949 PMID:21613359 PMID:22136840 PMID:22419703 PMID:22541004 PMID:23666964 PMID:24033266 PMID:24334765 PMID:24694336 PMID:25389632 PMID:25637381 PMID:25741868 PMID:26267327 PMID:26269449 PMID:26467025 PMID:26960314 PMID:27153395 PMID:28384794 PMID:28492532 PMID:28717660 PMID:28855235 PMID:29282712 PMID:29625052 PMID:29909963 PMID:30113886 PMID:30246500 PMID:30877234 PMID:31666924 PMID:32575117 PMID:32877928 PMID:32994724 PMID:33051659 PMID:33219105 PMID:34439168 PMID:34870338 PMID:35189708 PMID:36451132 PMID:36655350 More...
NCBI chr 3:134,919,416...134,932,210
Ensembl chr 3:114,466,171...114,477,519
G
Vhl
von Hippel-Lindau tumor suppressor
ISO
ClinVar Annotator: match by term: Pheochromocytoma CTD Direct Evidence: marker/mechanism
ClinVar CTD OMIM RGD
PMID:7563486 PMID:7604013 PMID:7728151 PMID:7759077 PMID:7784063 PMID:7987306 PMID:8270255 PMID:8592333 PMID:8707293 PMID:8730290 PMID:8772572 PMID:8956040 PMID:9058738 PMID:9156047 PMID:9215674 PMID:9329368 PMID:9399847 PMID:9536098 PMID:9663592 PMID:9671762 PMID:9751722 PMID:9829911 PMID:9829912 PMID:10102622 PMID:10205047 PMID:10364675 PMID:10408776 PMID:10567493 PMID:10766184 PMID:10878807 PMID:10900011 PMID:11331612 PMID:11331613 PMID:11483638 PMID:11987242 PMID:12000816 PMID:12097293 PMID:12114495 PMID:12393546 PMID:12414898 PMID:12415268 PMID:12624160 PMID:12702509 PMID:12844285 PMID:12944410 PMID:14604959 PMID:14722919 PMID:14726398 PMID:14973063 PMID:15300849 PMID:15574766 PMID:15611064 PMID:15642664 PMID:15642680 PMID:16210343 PMID:16452184 PMID:16585181 PMID:17024664 PMID:17102069 PMID:17102080 PMID:17102083 PMID:17264095 PMID:17576681 PMID:17661816 PMID:17700531 PMID:17898043 PMID:17922902 PMID:17992257 PMID:18567581 PMID:18836774 PMID:19030229 PMID:19228690 PMID:19252526 PMID:19304954 PMID:19336503 PMID:19464396 PMID:19494350 PMID:19574279 PMID:19602254 PMID:19763184 PMID:19808854 PMID:19906784 PMID:20151405 PMID:20233476 PMID:20351605 PMID:20518900 PMID:20660572 PMID:20846682 PMID:21204227 PMID:21463266 PMID:21519372 PMID:21606165 PMID:21685897 PMID:21876117 PMID:21993671 PMID:22136840 PMID:22145147 PMID:22393103 PMID:22438210 PMID:22799452 PMID:23015148 PMID:23397066 PMID:23403324 PMID:23512077 PMID:23541568 PMID:23772956 PMID:24033266 PMID:24555745 PMID:24581539 PMID:24583008 PMID:24728327 PMID:24977658 PMID:25119015 PMID:25371412 PMID:25390905 PMID:25562111 PMID:25563310 PMID:25583177 PMID:25637381 PMID:25741868 PMID:25966224 PMID:26211615 PMID:26323595 PMID:26467025 PMID:26681312 PMID:26822237 PMID:26845104 PMID:26846855 PMID:26933808 PMID:27439424 PMID:27517496 PMID:27527340 PMID:27539324 PMID:27651169 PMID:28235946 PMID:28388566 PMID:28432847 PMID:28454591 PMID:28469506 PMID:28492532 PMID:28873162 PMID:28944243 PMID:29124493 PMID:29616089 PMID:29790589 PMID:29978187 PMID:30042107 PMID:30890701 PMID:31132167 PMID:31368132 PMID:31568062 PMID:31779674 PMID:31980715 PMID:33033909 PMID:33151962 PMID:33720516 PMID:33745191 PMID:33777662 PMID:34566400 PMID:34628056 PMID:34654685 PMID:34926252 PMID:35008334 PMID:35032816 PMID:35142155 PMID:35220195 PMID:35524216 PMID:35668420 PMID:36715412 PMID:36744932 PMID:37529773 PMID:38332991 PMID:38969834 PMID:12500216 More...
RGD:1580371
NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
G
Flcn
folliculin
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:15852235 PMID:16199547 PMID:25741868 PMID:28492532
NCBI chr10:45,088,164...45,107,581
Ensembl chr10:44,588,624...44,607,769
G
Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:15696205 PMID:16247081 PMID:24033266
NCBI chr 4:179,916,255...179,949,613
G
Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:10712197 PMID:23913538 PMID:25741868 PMID:28492532
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
G
Palb2
partner and localizer of BRCA2
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma
ClinVar
PMID:25741868 PMID:26283626 PMID:28492532 PMID:28664506 PMID:32546565
NCBI chr 1:186,096,312...186,120,284
Ensembl chr 1:176,665,076...176,688,990
G
Ret
ret proto-oncogene
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:151,326,431...151,368,176
G
Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Pilocytic astrocytoma, somatic
ClinVar
PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25525159 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26689913 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30068732 PMID:30877234 PMID:31368675 PMID:31589614 PMID:31827275 PMID:32581362 PMID:32782288 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 PMID:35441217 More...
NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
G
Ctnnb1
catenin beta 1
ISO
ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9065402 PMID:9294210 PMID:9927029 PMID:10192393 PMID:10391090 PMID:10666372 PMID:23033978 PMID:24614104 PMID:25326635 PMID:25326669 PMID:25741868 PMID:26350204 PMID:26822237 PMID:27915094 PMID:27959697 PMID:28333917 PMID:28492532 PMID:28575650 PMID:31526516 More...
NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:120,639,995...120,667,111
G
Mutyh
mutY DNA glycosylase
ISO
ClinVar Annotator: match by term: Calcifying epithelioma of Malherbe | ClinVar Annotator: match by term: Pilomatrixoma
ClinVar
PMID:186631 PMID:2914711 PMID:11801590 PMID:11818965 PMID:12606733 PMID:12917422 PMID:15036665 PMID:15236166 PMID:15635083 PMID:15673720 PMID:15931596 PMID:15987719 PMID:16042573 PMID:16134147 PMID:16287072 PMID:16455870 PMID:16492921 PMID:16557584 PMID:16890597 PMID:17081686 PMID:17489848 PMID:17949294 PMID:17956577 PMID:18091433 PMID:18301448 PMID:18534194 PMID:19032956 PMID:19245865 PMID:19279422 PMID:19394335 PMID:19531215 PMID:19732775 PMID:19793053 PMID:19836313 PMID:19953527 PMID:19998059 PMID:20418187 PMID:20618354 PMID:20687945 PMID:20848659 PMID:21063410 PMID:21171015 PMID:21178863 PMID:21195604 PMID:21815886 PMID:21952991 PMID:22158503 PMID:22297469 PMID:22473953 PMID:22703879 PMID:22744763 PMID:22926731 PMID:23035301 PMID:23108399 PMID:23322991 PMID:23361220 PMID:23625202 PMID:23805267 PMID:24082139 PMID:24278394 PMID:24444654 PMID:24569162 PMID:24728327 PMID:24733792 PMID:24953332 PMID:25590978 PMID:25741868 PMID:25820570 PMID:25980754 PMID:26202870 PMID:26377631 PMID:26446593 PMID:26467025 PMID:26556299 PMID:26822237 PMID:26845104 PMID:27014339 PMID:27783336 PMID:27829682 PMID:27870730 PMID:28087410 PMID:28135145 PMID:28152038 PMID:28492532 PMID:28551381 PMID:28634180 PMID:28687356 PMID:29147111 PMID:29406563 PMID:29625052 PMID:29967336 PMID:29978187 PMID:30067863 PMID:30306255 PMID:30322717 PMID:30333958 PMID:30564557 PMID:30604180 PMID:30609409 PMID:30676620 PMID:30787465 PMID:31159747 PMID:31263571 PMID:31589614 PMID:31942411 PMID:32338768 PMID:33130102 PMID:33471991 PMID:34426522 PMID:34598035 PMID:34704405 PMID:35264596 PMID:35535697 More...
NCBI chr 5:135,510,666...135,522,777
Ensembl chr 5:130,274,122...130,286,146
G
Ovol1
ovo like transcriptional repressor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26873447
NCBI chr 1:212,284,601...212,296,106
Ensembl chr 1:202,855,265...202,866,831
G
Ovol2
ovo-like zinc finger 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26873447
NCBI chr 3:152,130,767...152,160,487
Ensembl chr 3:131,677,391...131,708,359
G
Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Pilomyxoid astrocytoma
ClinVar
PMID:25705862 PMID:25741868 PMID:26942290 PMID:28492532 PMID:33448156
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
G
Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: Pineoblastoma
ClinVar
PMID:16199547 PMID:19556464 PMID:21266384 PMID:21882293 PMID:24909177 PMID:25022261 PMID:25118636 PMID:25741868 PMID:26925222 PMID:27459524 PMID:28492532 PMID:28960912 PMID:30097050 More...
NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965
G
Drosha
drosha ribonuclease III
ISO
ClinVar Annotator: match by term: Pineoblastoma
ClinVar
NCBI chr 2:63,591,885...63,703,688
Ensembl chr 2:61,864,970...61,976,688
G
Avpr1b
arginine vasopressin receptor 1B
ISO
RGD
PMID:28692683
RGD:14700668
NCBI chr13:45,598,116...45,611,680
Ensembl chr13:43,046,267...43,057,792
G
Cdkn1b
cyclin-dependent kinase inhibitor 1B
IAGP
RGD
PMID:12036912
RGD:619590
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
G
Cdkn1bwe
cyclin-dependent kinase inhibitor 1B; white eye mutation
IAGP
RGD
PMID:12036912
RGD:619590
G
Grk2
G protein-coupled receptor kinase 2
ISO
mRNA:altered expression:pituitary gland (human)
RGD
PMID:24169548
RGD:13792706
NCBI chr 1:211,010,259...211,031,013
Ensembl chr 1:201,581,480...201,601,582
G
Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: PITUITARY ADENOMA 1, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma predisposition
OMIM ClinVar
PMID:2200621 PMID:16728643 PMID:17244780 PMID:17341560 PMID:17360484 PMID:17371465 PMID:17609395 PMID:18381572 PMID:18410548 PMID:19366855 PMID:19684062 PMID:19955762 PMID:20457215 PMID:20506337 PMID:20530095 PMID:21348957 PMID:21454441 PMID:21753072 PMID:21984905 PMID:22319033 PMID:22720333 PMID:23038625 PMID:23038925 PMID:23300914 PMID:23321498 PMID:23371967 PMID:23633209 PMID:24033266 PMID:24078436 PMID:24423289 PMID:24789813 PMID:25093619 PMID:25184284 PMID:25203624 PMID:25333069 PMID:25350067 PMID:25741868 PMID:26186299 PMID:27153395 PMID:27253664 PMID:27267386 PMID:28220018 PMID:28255869 PMID:28427099 PMID:28492532 PMID:29074612 PMID:29308445 PMID:29455389 PMID:29507682 PMID:29632148 PMID:30262796 PMID:30461320 PMID:30822274 PMID:32324286 PMID:34588620 More...
NCBI chr 1:210,837,473...210,848,691
Ensembl chr 1:201,407,288...201,419,122
G
Gnas
GNAS complex locus
ISO
ClinVar Annotator: match by term: Pituitary adenoma 3, multiple types
OMIM ClinVar
PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7737262 PMID:7739708 PMID:8702665 PMID:8766942 PMID:9626141 PMID:9876352 PMID:10571700 PMID:10980525 PMID:11092390 PMID:11093740 PMID:11588148 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15711092 PMID:15952988 PMID:16507630 PMID:16543670 PMID:17164301 PMID:17493233 PMID:17873334 PMID:18553568 PMID:18796523 PMID:20197676 PMID:20427508 PMID:21525160 PMID:21835143 PMID:23281139 PMID:23403822 PMID:23533243 PMID:23536913 PMID:23796510 PMID:23843956 PMID:23884777 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:24855271 PMID:25044890 PMID:25157968 PMID:25219572 PMID:25719192 PMID:25741868 PMID:25802881 PMID:26341786 PMID:26574629 PMID:26633545 PMID:27398169 PMID:27506760 PMID:27703483 PMID:28492532 PMID:29059381 PMID:29072892 PMID:29379892 PMID:29991465 PMID:30349702 PMID:30674755 PMID:30702195 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:163,071,417...163,127,262 Ensembl chr 3:163,071,417...163,127,262
G
Aip
aryl-hydrocarbon receptor-interacting protein
ISO
ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:210,837,473...210,848,691
Ensembl chr 1:201,407,288...201,419,122
G
C20h10orf105
similar to human chromosome 10 open reading frame 105
ISO
ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
ClinVar
PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:16199547 PMID:16679490 PMID:18273900 PMID:19683999 PMID:20613545 PMID:21228398 PMID:21940737 PMID:24033266 PMID:24875298 PMID:25468891 PMID:25741868 PMID:26467025 PMID:27957503 PMID:28413019 PMID:28492532 PMID:28944237 PMID:30303587 PMID:33924653 PMID:34335733 PMID:35020051 PMID:36597107 More...
NCBI chr20:28,876,519...28,880,120
Ensembl chr20:28,336,101...28,336,487
G
Cdh23
cadherin-related 23
ISO
ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
OMIM ClinVar
PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:12522556 PMID:15353998 PMID:15537665 PMID:15660226 PMID:16199547 PMID:16281288 PMID:16679490 PMID:16963483 PMID:17407589 PMID:17576681 PMID:17850630 PMID:18273900 PMID:18323324 PMID:18368581 PMID:18429043 PMID:18484607 PMID:19683999 PMID:19888295 PMID:20052763 PMID:20146813 PMID:20513143 PMID:20613545 PMID:21174530 PMID:21228398 PMID:21436283 PMID:21569298 PMID:21738395 PMID:21917145 PMID:21940737 PMID:22135276 PMID:22443853 PMID:22899989 PMID:22995991 PMID:23451239 PMID:23591405 PMID:23757202 PMID:23804846 PMID:23967202 PMID:24006325 PMID:24033266 PMID:24164807 PMID:24416283 PMID:24444108 PMID:24498627 PMID:24618850 PMID:24767429 PMID:24875298 PMID:25211151 PMID:25231367 PMID:25279224 PMID:25333064 PMID:25356970 PMID:25373420 PMID:25404053 PMID:25425308 PMID:25468891 PMID:25472526 PMID:25474345 PMID:25525159 PMID:25575603 PMID:25587757 PMID:25605338 PMID:25741868 PMID:25788563 PMID:25963016 PMID:26226137 PMID:26264712 PMID:26346818 PMID:26399936 PMID:26445815 PMID:26467025 PMID:26763877 PMID:26969326 PMID:27018795 PMID:27068579 PMID:27208204 PMID:27349180 PMID:27460420 PMID:27573290 PMID:27583405 PMID:27583663 PMID:27610647 PMID:27627659 PMID:27743452 PMID:27792758 PMID:27884173 PMID:27957503 PMID:28000701 PMID:28383030 PMID:28413019 PMID:28483220 PMID:28492532 PMID:28501645 PMID:28847902 PMID:28902392 PMID:28944237 PMID:29048421 PMID:29148562 PMID:29287849 PMID:29889784 PMID:29986705 PMID:30029624 PMID:30033219 PMID:30123251 PMID:30245029 PMID:30303587 PMID:30311386 PMID:30367262 PMID:30459346 PMID:30622556 PMID:30718709 PMID:30774966 PMID:30828794 PMID:31054281 PMID:31138263 PMID:31152317 PMID:31231422 PMID:31445392 PMID:31541171 PMID:31546658 PMID:31589614 PMID:31755791 PMID:31816670 PMID:31850270 PMID:31872526 PMID:31980526 PMID:32141364 PMID:32238869 PMID:32279305 PMID:32467589 PMID:32485727 PMID:32645618 PMID:32747562 PMID:32842620 PMID:32860223 PMID:32991204 PMID:33089500 PMID:33095980 PMID:33111992 PMID:33316915 PMID:33576794 PMID:33724713 PMID:33924653 PMID:34335733 PMID:34416374 PMID:34426522 PMID:34744965 PMID:34752165 PMID:34824372 PMID:34837038 PMID:34906470 PMID:34948090 PMID:34997822 PMID:35020051 PMID:35062939 PMID:35186827 PMID:35248088 PMID:35440622 PMID:35651951 PMID:35802133 PMID:35882863 PMID:35982127 PMID:36011334 PMID:36460718 PMID:36468022 PMID:36597107 PMID:36633841 PMID:36672845 PMID:37734845 PMID:38927702 More...
NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,240,645...28,622,419
G
Men1
menin 1
ISO
ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871
G
Vsir
V-set immunoregulatory receptor
ISO
ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types
ClinVar
PMID:25741868
NCBI chr20:28,824,493...28,850,175
Ensembl chr20:28,281,596...28,303,878
G
Plag1
PLAG1 zinc finger
ISO
CTD Direct Evidence: marker/mechanism
CTD OMIM RGD
PMID:10029085
RGD:1599086
NCBI chr 5:21,699,650...21,754,325
Ensembl chr 5:16,905,394...16,913,647
G
Aass
aminoadipate-semialdehyde synthase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:52,572,146...52,628,811
Ensembl chr 4:51,606,462...51,663,136
G
Abca13
ATP binding cassette subfamily A member 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:88,087,146...88,589,868
Ensembl chr14:83,873,940...84,375,075
G
Abcb1a
ATP binding cassette subfamily B member 1A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:26,312,403...26,488,456
Ensembl chr 4:25,158,362...25,442,709
G
Abcb4
ATP binding cassette subfamily B member 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:26,106,895...26,164,440
Ensembl chr 4:25,151,953...25,209,202
G
Abcb5
ATP binding cassette subfamily B member 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:145,978,860...146,075,776
Ensembl chr 6:139,835,949...139,932,830
G
Abhd11
abhydrolase domain containing 11
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,682,206...21,685,331
Ensembl chr12:21,682,202...21,685,398
G
Abhd11-as1
ABHD11 antisense RNA 1 (tail to tail)
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,681,118...21,682,106
G
Ache
acetylcholinesterase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:25,042,882...25,050,608
Ensembl chr12:19,407,360...19,413,651
G
Actl6b
actin-like 6B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,124,887...19,141,419
Ensembl chr12:19,124,916...19,141,376
G
Adam22
ADAM metallopeptidase domain 22
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:26,670,984...26,925,843
Ensembl chr 4:25,715,990...25,964,962
G
Adck2
aarF domain containing kinase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:69,315,633...69,328,535
Ensembl chr 4:68,348,864...68,374,608
G
Adcy1
adenylate cyclase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:86,125,119...86,234,459
Ensembl chr14:81,911,099...82,028,969
G
Adcyap1r1
ADCYAP receptor type I
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,924,171...85,972,973
Ensembl chr 4:84,593,892...84,642,700
G
Aebp1
AE binding protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:84,951,577...84,962,840
Ensembl chr14:80,738,892...80,748,877
G
Agbl3
AGBL carboxypeptidase 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:64,416,139...64,498,987
Ensembl chr 4:63,453,940...63,531,188
G
Agfg2
ArfGAP with FG repeats 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,012,228...19,048,433
Ensembl chr12:19,012,258...19,048,421
G
Agmo
alkylglycerol monooxygenase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:53,986,236...54,317,838
Ensembl chr 6:53,986,292...54,317,623
G
Agr2
anterior gradient 2, protein disulphide isomerase family member
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:52,708,602...52,729,378
Ensembl chr 6:52,708,602...52,729,371
G
Agr3
anterior gradient 3, protein disulphide isomerase family member
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:52,643,391...52,666,638
Ensembl chr 6:52,643,391...52,666,638
G
Ahcyl2
adenosylhomocysteinase-like 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,348,747...59,498,503
Ensembl chr 4:58,381,218...58,531,060
G
Ahr
aryl hydrocarbon receptor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568
G
Akap9
A-kinase anchoring protein 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,011,475...31,147,338
Ensembl chr 4:30,056,738...30,192,606
G
Akr1b1
aldo-keto reductase family 1 member B1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,899,222...63,913,315
Ensembl chr 4:62,932,031...62,946,157
G
Akr1b10
aldo-keto reductase family 1 member B10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:64,005,632...64,027,860
Ensembl chr 4:63,040,169...63,053,852
G
Akr1b8
aldo-keto reductase family 1, member B8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:62,997,241...63,009,815
Ensembl chr 4:62,997,161...63,010,097
G
Akr1d1
aldo-keto reductase family 1, member D1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,121,288...67,154,543
Ensembl chr 4:66,154,248...66,186,372
G
Alkbh4
alkB homolog 4, lysine demethylase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,524,030...20,529,947
Ensembl chr12:20,524,030...20,529,947
G
Amph
amphiphysin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:50,435,018...50,678,583
Ensembl chr17:45,739,395...45,983,315
G
Ankib1
ankyrin repeat and IBR domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,288,393...31,412,500
Ensembl chr 4:30,333,677...30,457,781
G
Ankmy2
ankyrin repeat and MYND domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:58,616,251...58,657,634
Ensembl chr 6:52,888,963...52,930,394
G
Ankrd7
ankyrin repeat domain 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:48,278,144...48,302,622
Ensembl chr 4:47,318,420...47,336,753
G
Anln
anillin, actin binding protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:29,134,222...29,197,513
Ensembl chr 8:20,858,228...20,921,538
G
Aoah
acyloxyacyl hydrolase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:48,503,812...48,745,161
Ensembl chr17:43,809,638...44,049,148
G
Ap1s1
adaptor related protein complex 1 subunit sigma 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:25,261,958...25,272,483
Ensembl chr12:19,625,332...19,756,713
G
Ap4m1
adaptor related protein complex 4 subunit mu 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,163,474...22,171,734
Ensembl chr12:17,049,777...17,058,026
G
Aqp1
aquaporin 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,812,784...85,824,964
Ensembl chr 4:84,482,512...84,494,690
G
Arf5
ARF GTPase 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,038,521...57,041,447
Ensembl chr 4:57,038,521...57,041,441
G
Arl4a
ARF like GTPase 4A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:62,809,287...62,811,297
Ensembl chr 6:57,078,812...57,085,066
G
Armc10
armadillo repeat containing 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,291,211...14,306,799
Ensembl chr 4:13,395,207...13,414,548
G
Arpc1a
actin related protein 2/3 complex, subunit 1A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,502,496...9,525,304
Ensembl chr12:9,502,501...9,525,330
G
Arpc1b
actin related protein 2/3 complex, subunit 1B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:14,595,939...14,609,501
Ensembl chr12:9,480,831...9,495,747
G
Asb15
ankyrin repeat and SOCS box containing 15
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:53,021,553...53,050,846
Ensembl chr 4:53,031,692...53,049,928
G
Asb4
ankyrin repeat and SOCS box-containing 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:34,473,527...34,511,163
Ensembl chr 4:33,506,992...33,544,630
G
Asl
argininosuccinate lyase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:32,295,779...32,313,257
Ensembl chr12:26,659,565...26,679,662
G
Asns
asparagine synthetase (glutamine-hydrolyzing)
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:36,752,061...36,769,970
Ensembl chr 4:35,785,237...35,803,423
G
Asz1
ankyrin repeat, SAM and basic leucine zipper domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:46,400,485...46,456,085
Ensembl chr 4:46,400,485...46,456,085
G
Atp5mf
ATP synthase membrane subunit f
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:14,535,435...14,542,007
Ensembl chr12:9,421,579...9,428,236
G
Atp6v0a4
ATPase H+ transporting V0 subunit a4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,727,145...67,809,092
Ensembl chr 4:66,760,159...66,842,110
G
Atp6v1f
ATPase H+ transporting V1 subunit F
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,033,020...59,035,980
G
Atxn7l1
ataxin 7-like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:49,759,876...49,982,323
Ensembl chr 6:49,759,883...49,982,320
G
Auts2
activator of transcription and developmental regulator AUTS2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:29,739,138...30,830,386
Ensembl chr12:24,104,192...25,194,416
G
Avl9
AVL9 cell migration associated
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,961,493...86,008,347
Ensembl chr 4:85,961,635...86,008,791
G
Azgp1
alpha-2-glycoprotein 1, zinc-binding
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,044,685...22,051,248
Ensembl chr12:16,931,024...16,939,091
G
Baiap2l1
BAR/IMD domain containing adaptor protein 2 like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:10,250,434...10,339,937
Ensembl chr12:10,250,473...10,339,928
G
Baz1b
bromodomain adjacent to zinc finger domain, 1B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:27,068,541...27,126,511
Ensembl chr12:21,431,985...21,490,426
G
Bbs9
Bardet-Biedl syndrome 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930
G
Bcap29
B-cell receptor-associated protein 29
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:53,910,209...53,950,206
Ensembl chr 6:48,182,706...48,222,720
G
Bcl7b
BAF chromatin remodeling complex subunit BCL7B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,496,860...21,510,079
Ensembl chr12:21,496,856...21,510,202
G
Bet1
Bet1 golgi vesicular membrane trafficking protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:33,070,892...33,081,162
Ensembl chr 4:32,116,235...32,126,617
G
Bhlha15
basic helix-loop-helix family, member a15
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:15,534,123...15,538,299
Ensembl chr12:10,420,467...10,424,713
G
Blvra
biliverdin reductase A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 3:134,793,397...134,819,367
Ensembl chr 3:114,340,838...114,366,033
G
Bmper
BMP-binding endothelial regulator
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:30,008,049...30,253,201
Ensembl chr 8:21,732,225...21,977,256
G
Bpgm
bisphosphoglycerate mutase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,139,730...63,168,581
Ensembl chr 4:63,140,018...63,168,581
G
Braf
B-Raf proto-oncogene, serine/threonine kinase
onset
ISO
DNA:mutation:cds:p.V600E(human) ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar RGD
PMID:28299358 PMID:25346165
RGD:11567238
NCBI chr 4:69,329,772...69,476,931
Ensembl chr 4:68,384,649...68,510,463
G
Bri3
brain protein I3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:10,341,007...10,364,655
Ensembl chr12:10,341,011...10,364,735
G
Bud23
BUD23, rRNA methyltransferase and ribosome maturation factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,629,551...21,640,758
Ensembl chr12:21,629,536...21,640,751
G
Bud31
BUD31 homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:14,576,602...14,584,132
Ensembl chr12:9,462,441...9,470,509
G
Bzw2
basic leucine zipper and W2 domains 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:52,828,069...52,888,599
Ensembl chr 6:52,827,661...52,888,628
G
C14h7orf57
similar to human chromosome 7 open reading frame 57
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:83,748,478...83,768,293
Ensembl chr14:83,748,478...83,767,435
G
C17h7orf25
similar to human chromosome 7 open reading frame 25
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:50,543,231...50,549,880
Ensembl chr17:50,542,858...50,549,976
G
Cacna2d1
calcium voltage-gated channel auxiliary subunit alpha2delta 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:19,902,324...20,330,287
Ensembl chr 4:18,951,002...19,374,969
G
Cadps2
calcium dependent secretion activator 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:52,746,054...53,275,252
Ensembl chr 4:51,781,053...52,309,829
G
Calcr
calcitonin receptor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:32,615,955...32,691,075
Ensembl chr 4:31,661,273...31,736,392
G
Cald1
caldesmon 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:64,232,906...64,414,085
Ensembl chr 4:63,265,942...63,446,932
G
Caln1
calneuron 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:31,447,964...31,939,847
Ensembl chr12:25,819,628...26,303,344
G
Calu
calumenin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,914,456...58,941,957
Ensembl chr 4:57,948,997...57,976,593
G
Camk2b
calcium/calmodulin-dependent protein kinase II beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:85,059,166...85,148,121
Ensembl chr14:80,845,238...80,933,994
G
Capza2
capping actin protein of muscle Z-line subunit alpha 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:46,944,040...46,979,930
Ensembl chr 4:45,977,807...46,013,864
G
Casd1
CAS1 domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:32,659,196...32,739,228
Ensembl chr 4:32,658,748...32,739,202
G
Castor2
cytosolic arginine sensor for mTORC1 subunit 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:28,213,927...28,256,593
Ensembl chr12:22,577,512...22,620,182
G
Cav1
caveolin 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:45,634,918...45,673,705
G
Cav2
caveolin 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:46,582,681...46,590,058
Ensembl chr 4:45,616,712...45,624,244
G
Cbll1
Cbl proto-oncogene like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:48,071,190...48,086,174
Ensembl chr 6:48,071,190...48,086,444
G
Cbx3
chromobox 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,876,155...81,889,912
Ensembl chr 4:80,546,010...80,559,283 Ensembl chr 4:80,546,010...80,559,283
G
Ccdc126
coiled-coil domain containing 126
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:78,297,625...78,318,655
Ensembl chr 4:78,297,551...78,318,655
G
Ccdc136
coiled-coil domain containing 136
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,997,825...58,027,598
Ensembl chr 4:57,997,853...58,027,646
G
Ccdc146
coiled-coil domain containing 146
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,554,966...14,703,801
Ensembl chr 4:13,662,766...13,811,608
G
Ccdc71l
coiled-coil domain containing 71-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:54,687,474...54,691,566
Ensembl chr 6:48,960,191...48,960,841 Ensembl chr 6:48,960,191...48,960,841
G
Ccl24
C-C motif chemokine ligand 24
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,737,423...26,741,420
Ensembl chr12:21,100,835...21,104,893
G
Ccl26
C-C motif chemokine ligand 26
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,745,972...26,750,924
Ensembl chr12:21,109,421...21,114,335
G
Ccm2
CCM2 scaffold protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
G
Cct6a
chaperonin containing TCP1 subunit 6A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:32,508,842...32,519,072
Ensembl chr12:26,872,574...26,883,337
G
Cd36
CD36 molecule
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:18,209,088...18,302,142
Ensembl chr 4:17,354,466...17,513,903
G
Cdca7l
cell division cycle associated 7 like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:138,794,228...138,839,888
G
Cdhr3
cadherin-related family member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:55,369,215...55,429,454
Ensembl chr 6:49,641,813...49,702,017
G
Cdk13
cyclin-dependent kinase 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:51,945,975...52,040,218
Ensembl chr17:47,251,163...47,341,721
G
Cdk14
cyclin-dependent kinase 14
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:29,619,237...30,213,651
Ensembl chr 4:28,666,843...29,258,861
G
Cdk6
cyclin-dependent kinase 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,592,384...31,784,732
Ensembl chr 4:30,646,460...30,829,634
G
Cep41
centrosomal protein 41
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:60,238,602...60,279,670
Ensembl chr 4:59,271,218...59,310,668
G
Cfap69
cilia and flagella associated protein 69
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:29,334,624...29,405,513
Ensembl chr 4:28,375,996...28,450,698
G
Cftr
CF transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:47,422,084...47,694,646
Ensembl chr 4:46,560,885...46,728,756
G
Chchd2
coiled-coil-helix-coiled-coil-helix domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:32,464,847...32,470,871
Ensembl chr12:26,828,736...26,834,755
G
Chchd3
coiled-coil-helix-coiled-coil-helix domain containing 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:62,327,574...62,584,085
Ensembl chr 4:61,360,353...61,616,847
G
Chn2
chimerin 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:84,478,989...84,738,068
Ensembl chr 4:83,147,983...83,407,709
G
Chrm2
cholinergic receptor, muscarinic 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:65,981,136...66,116,128
Ensembl chr 4:65,014,144...65,149,103
G
Cldn12
claudin 12
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:28,522,659...28,533,647
Ensembl chr 4:28,522,678...28,533,801
G
Cldn15
claudin 15
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,698,167...19,708,419
Ensembl chr12:19,698,337...19,706,819
G
Cldn3
claudin 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:27,345,075...27,346,547
Ensembl chr12:21,708,398...21,711,001
G
Cldn4
claudin 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:27,388,160...27,389,958
Ensembl chr12:21,751,331...21,753,436
G
Clec2l
C-type lectin domain family 2, member L
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,392,118...67,414,539
Ensembl chr 4:67,397,873...67,414,537
G
Clip2
CAP-GLY domain containing linker protein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:27,798,289...27,863,486
Ensembl chr12:22,163,218...22,227,023
G
Cnot4
CCR4-NOT transcription complex, subunit 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:64,679,903...64,781,432
Ensembl chr 4:63,712,770...63,814,360
G
Cnpy4
canopy FGF signaling regulator 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,064,642...17,070,755
Ensembl chr12:17,064,642...17,070,043
G
Cobl
cordon-bleu WH2 repeat protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:86,828,137...87,060,682
Ensembl chr14:86,828,139...87,060,800
G
Cog5
component of oligomeric golgi complex 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:48,242,470...48,545,185
Ensembl chr 6:48,242,482...48,529,009
G
Col1a2
collagen type I alpha 2 chain
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:33,518,557...33,553,484
Ensembl chr 4:32,563,381...32,598,867
G
Col26a1
collagen type XXVI alpha 1 chain
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,792,693...19,938,556
Ensembl chr12:19,792,728...19,938,556
G
Copg2
COPI coat complex subunit gamma 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:60,333,455...60,468,953
Ensembl chr 4:59,366,086...59,501,618
G
Cops6
COP9 signalosome subunit 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,038,979...17,041,818
Ensembl chr12:17,038,979...17,046,371
G
Cpa1
carboxypeptidase A1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:60,224,801...60,230,928
Ensembl chr 4:59,257,417...59,263,544
G
Cpa2
carboxypeptidase A2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:60,125,297...60,151,066
Ensembl chr 4:59,160,357...59,183,674
G
Cpa4
carboxypeptidase A4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:60,155,675...60,179,644
Ensembl chr 4:59,188,284...59,212,255
G
Cpa5
carboxypeptidase A5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:60,197,123...60,216,883
Ensembl chr 4:59,230,964...59,249,490
G
Cped1
cadherin-like and PC-esterase domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:50,516,712...50,789,651
Ensembl chr 4:50,516,819...50,788,674
G
Cpsf4
cleavage and polyadenylation specific factor 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,429,765...9,445,586
Ensembl chr12:9,429,523...9,445,586
G
Cpvl
carboxypeptidase, vitellogenic-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:84,311,853...84,422,098
Ensembl chr 4:82,981,422...83,085,655
G
Crcp
CGRP receptor component
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:32,260,108...32,315,116
Ensembl chr12:26,623,976...26,768,225
G
Creb3l2
cAMP responsive element binding protein 3-like 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:66,874,623...66,990,962
Ensembl chr 4:65,907,655...66,023,763
G
Creb5
cAMP responsive element binding protein 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:83,723,587...84,124,786
Ensembl chr 4:82,393,730...82,790,325
G
Crhr2
corticotropin releasing hormone receptor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,553,163...85,596,203
Ensembl chr 4:84,224,002...84,265,904
G
Crot
carnitine O-octanoyltransferase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:26,031,729...26,088,057
Ensembl chr 4:25,080,587...25,133,109
G
Crppa
CDP-L-ribitol pyrophosphorylase A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:58,847,550...59,124,309
Ensembl chr 6:53,121,438...53,397,028
G
Cttnbp2
cortactin binding protein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:47,766,867...47,930,598
Ensembl chr 4:46,800,981...46,964,631
G
Cux1
cut-like homeobox 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:25,728,393...26,062,497
Ensembl chr12:20,107,311...20,425,866 Ensembl chr 4:20,107,311...20,425,866
G
Cycs
cytochrome c, somatic
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:80,982,667...80,984,767
Ensembl chr 4:79,651,378...79,654,054 Ensembl chr18:79,651,378...79,654,054
G
Cyp3a18
cytochrome P450, family 3, subfamily a, polypeptide 18
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:13,994,312...14,044,185
Ensembl chr12:8,880,528...8,930,381
G
Cyp3a2
cytochrome P450, family 3, subfamily a, polypeptide 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:14,321,771...14,343,886
Ensembl chr12:9,015,383...9,285,008
G
Cyp3a9
cytochrome P450, family 3, subfamily a, polypeptide 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,919,955...21,960,160
Ensembl chr12:16,806,207...16,846,422
G
Cyp51
cytochrome P450, family 51
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,991,693...31,010,147
Ensembl chr 4:30,036,865...30,055,410 Ensembl chr 6:30,036,865...30,055,410
G
Cyren
cell cycle regulator of NHEJ
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,547,311...63,553,394
Ensembl chr 4:63,547,335...63,551,602
G
Dbf4
DBF4-CDC7 kinase regulatory subunit
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:25,676,570...25,701,152
Ensembl chr 4:25,676,634...25,701,066
G
Dbnl
drebrin-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:84,880,085...84,895,122
Ensembl chr14:80,666,124...80,681,155
G
Ddc
dopa decarboxylase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:90,592,304...90,682,830
Ensembl chr14:86,378,685...86,469,208
G
Ddx56
DEAD-box helicase 56
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:85,325,942...85,336,262
Ensembl chr14:81,112,012...81,122,333
G
Dennd2a
DENN domain containing 2A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:68,233,016...68,332,235
Ensembl chr 4:68,233,958...68,332,105
G
Dgkb
diacylglycerol kinase, beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:54,640,948...55,397,210
Ensembl chr 6:54,641,614...55,397,043
G
Dgki
diacylglycerol kinase, iota
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:66,377,897...66,839,790
Ensembl chr 4:65,420,108...65,872,733
G
Dld
dihydrolipoamide dehydrogenase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:53,631,686...53,655,059
Ensembl chr 6:47,903,914...47,924,795
G
Dlx5
distal-less homeobox 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:34,999,139...35,003,407
G
Dlx6
distal-less homeobox 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:35,951,005...35,956,354
Ensembl chr 4:34,984,232...34,991,343
G
Dmtf1
cyclin D binding myb-like transcription factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:25,864,891...25,905,916
Ensembl chr 4:24,910,534...24,950,967
G
Dnah11
dynein, axonemal, heavy chain 11
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:144,982,130...145,298,523
Ensembl chr 6:138,839,177...139,155,536
G
Dnajb9
DnaJ heat shock protein family (Hsp40) member B9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:66,997,842...67,007,371
Ensembl chr 6:61,269,913...61,275,063
G
Dnajc2
DnaJ heat shock protein family (Hsp40) member C2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,162,490...14,189,662
Ensembl chr 4:13,270,191...13,297,431
G
Dnajc30
DnaJ heat shock protein family (Hsp40) member C30
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:27,264,861...27,265,940
Ensembl chr12:21,626,450...21,629,408
G
Dock4
dedicator of cytokinesis 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:63,240,050...63,629,772
Ensembl chr 6:57,512,908...57,901,855
G
Dpy19l1
dpy-19 like C-mannosyltransferase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:22,933,163...23,021,461
Ensembl chr 8:22,933,163...23,021,751
G
Dtx2
deltex E3 ubiquitin ligase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,643,289...20,682,908
Ensembl chr12:20,643,297...20,682,885
G
Dus4l
dihydrouridine synthase 4-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:48,228,111...48,242,553
Ensembl chr 6:48,228,111...48,242,449
G
Dync1i1
dynein cytoplasmic 1 intermediate chain 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:34,819,313...35,132,647
Ensembl chr 4:33,852,927...34,166,149
G
Eepd1
endonuclease/exonuclease/phosphatase family domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:32,233,834...32,340,148
Ensembl chr 8:23,957,255...24,064,340
G
Egfr
epidermal growth factor receptor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
G
Eif4h
eukaryotic translation initiation factor 4H
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,083,155...22,099,876
Ensembl chr12:22,082,835...22,099,876
G
Elapor2
endosome-lysosome associated apoptosis and autophagy regulator family member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:25,565,298...25,760,684
Ensembl chr 4:24,613,163...24,805,729
G
Elmo1
engulfment and cell motility 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:48,982,188...49,518,525
Ensembl chr17:44,286,485...44,822,788
G
Eln
elastin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928
G
Epdr1
ependymin related 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:45,333,932...45,358,597
Ensembl chr17:45,333,956...45,358,594
G
Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:24,963,174...24,988,473
Ensembl chr12:19,326,427...19,351,314
G
Epo
erythropoietin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:24,841,285...24,844,725
Ensembl chr12:19,204,508...19,207,946
G
Etv1
ETS variant transcription factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:61,316,836...61,408,985
Ensembl chr 6:55,590,234...55,681,775
G
Evx1
even-skipped homeobox 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,747,192...82,751,569
Ensembl chr 4:81,416,590...81,420,967
G
Exoc4
exocyst complex component 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:62,774,896...63,551,541
Ensembl chr 4:61,807,761...62,585,723
G
Fam133b
family with sequence similarity 133, member B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,589,646...30,616,291
Ensembl chr 4:30,589,635...30,616,040
G
Fam180a
family with sequence similarity 180, member A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:64,959,999...64,975,176
Ensembl chr 4:63,992,867...64,008,047
G
Fam185a
family with sequence similarity 185, member A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:13,542,022...13,662,967
Ensembl chr 4:13,608,464...13,662,967
G
Fam221a
family with sequence similarity 221, member A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:78,337,296...78,358,918
Ensembl chr 4:78,337,296...78,358,909
G
Fam3c
FAM3 metabolism regulating signaling molecule C
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:51,805,686...51,853,030
Ensembl chr 4:50,838,818...50,888,078
G
Fbxl13
F-box and leucine-rich repeat protein 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:13,414,880...13,607,079
Ensembl chr 4:13,414,926...13,641,494
G
Fbxo24
F-box protein 24
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,072,668...19,083,067
Ensembl chr12:19,072,716...19,083,067
G
Ferd3l
Fer3-like bHLH transcription factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:50,645,379...50,646,268
Ensembl chr 6:50,645,379...50,646,268
G
Fezf1
Fez family zinc finger 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:52,728,385...52,733,315
Ensembl chr 4:51,762,751...51,766,078
G
Fgl2
fibrinogen-like 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,602,762...14,608,405
Ensembl chr 4:13,710,575...13,716,207
G
Fignl1
fidgetin-like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:90,573,090...90,595,342
Ensembl chr14:86,368,675...86,377,455
G
Fis1
fission, mitochondrial 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:25,345,239...25,360,135
Ensembl chr12:19,708,558...19,723,377
G
Fkbp14
FKBP prolyl isomerase 14
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,035,840...85,051,917
Ensembl chr 4:83,705,652...83,721,528
G
Fkbp6
FKBP prolyl isomerase family member 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,318,251...21,390,350
Ensembl chr12:21,319,568...21,390,350
G
Fkbp9
FKBP prolyl isomerase 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:87,436,439...87,486,909
Ensembl chr 4:86,106,282...86,156,721
G
Flnc
filamin C
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,999,445...59,027,240
Ensembl chr 4:58,034,189...58,061,844
G
Fmc1
formation of mitochondrial complex V assembly factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,274,104...67,282,140
Ensembl chr 4:67,274,104...67,282,140
G
Foxp2
forkhead box P2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:44,099,848...44,677,700
Ensembl chr 4:43,133,912...43,711,683
G
Fscn3
fascin actin-bundling protein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,008,124...58,017,674
Ensembl chr 4:57,042,797...57,052,404
G
Fzd1
frizzled class receptor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,265,074...30,269,472
Ensembl chr 4:29,310,091...29,312,643 Ensembl chr 4:29,310,091...29,312,643
G
Fzd9
frizzled class receptor 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:27,063,640...27,065,954
Ensembl chr12:21,427,084...21,429,398
G
Gal3st4
galactose-3-O-sulfotransferase 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,381,576...22,390,566
Ensembl chr12:17,267,963...17,276,833
G
Galnt17
polypeptide N-acetylgalactosaminyltransferase 17
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:30,959,460...31,418,150
Ensembl chr12:25,322,701...25,781,290
G
Garin1a
golgi associated RAB2 interactor 1A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,880,019...57,890,824
Ensembl chr 4:57,880,019...57,890,820
G
Garin1b
golgi associated RAB2 interactor 1B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,915,184...57,938,593
Ensembl chr 4:57,920,790...57,938,591
G
Gars1
glycyl-tRNA synthetase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,484,939...85,542,876
Ensembl chr 4:84,171,596...84,212,609
G
Gatad1
GATA zinc finger domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,462,251...31,473,827
Ensembl chr 4:30,507,538...30,519,107
G
Gcc1
GRIP and coiled-coil domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,996,261...58,008,126
Ensembl chr 4:57,032,314...57,042,663
G
Gck
glucokinase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:84,999,019...85,041,098
Ensembl chr14:80,785,060...80,826,995
G
Ggct
gamma-glutamyl cyclotransferase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,453,387...85,459,597
Ensembl chr 4:84,123,118...84,129,277
G
Ghrhr
growth hormone releasing hormone receptor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,830,345...85,863,127
Ensembl chr 4:84,500,212...84,532,776
G
Gigyf1
GRB10 interacting GYF protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,166,070...19,181,570
Ensembl chr12:19,166,088...19,175,023
G
Gjc3
gap junction protein, gamma 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:16,899,846...16,912,309
Ensembl chr12:16,896,813...16,964,246
G
Gli3
GLI family zinc finger 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:54,134,064...54,405,198
Ensembl chr17:49,438,567...49,709,712
G
Gnai1
G protein subunit alpha i1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:17,706,061...17,790,176
Ensembl chr 4:16,814,001...16,896,417
G
Gnat3
G protein subunit alpha transducin 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:18,054,551...18,104,332
Ensembl chr 4:17,162,490...17,212,283
G
Gnb2
G protein subunit beta 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:24,795,505...24,800,796
Ensembl chr12:19,158,973...19,164,019
G
Gng11
G protein subunit gamma 11
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:32,023,003...32,028,443
Ensembl chr 4:32,023,003...32,028,442
G
Gngt1
G protein subunit gamma transducin 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:32,960,945...32,963,930
Ensembl chr 4:32,006,267...32,009,252
G
Gpc2
glypican 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,277,875...17,284,297
Ensembl chr12:17,277,875...17,284,208
G
Gpnmb
glycoprotein nmb
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:79,341,128...79,362,366
Ensembl chr 4:78,010,197...78,049,367
G
Gpr141
G protein-coupled receptor 141
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:49,813,489...49,875,721
Ensembl chr17:45,117,812...45,180,027
G
Gpr22
G protein-coupled receptor 22
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:48,309,619...48,317,864
Ensembl chr 6:48,310,505...48,317,486
G
Gpr37
G protein-coupled receptor 37
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:55,104,355...55,126,420
Ensembl chr 4:54,138,870...54,161,001
G
Gpr85
G protein-coupled receptor 85
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:42,100,138...42,109,584
Ensembl chr 4:42,102,941...42,109,566
G
Grb10
growth factor receptor bound protein 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:90,708,653...90,816,399
Ensembl chr14:86,495,054...86,602,806
G
Grm3
glutamate metabotropic receptor 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:25,319,218...25,600,721
Ensembl chr 4:24,365,115...24,609,804
G
Grm8
glutamate metabotropic receptor 8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:56,771,247...57,696,951
Ensembl chr 4:55,805,955...56,730,831
G
Gsap
gamma-secretase activating protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,705,237...14,800,057
Ensembl chr 4:13,813,046...13,907,814
G
Gsdme
gasdermin E
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:80,590,344...80,651,943
Ensembl chr 4:79,257,804...79,320,806
G
Gtf2i
general transcription factor II I
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:28,037,344...28,112,677
Ensembl chr12:22,401,431...22,476,243
G
Gtf2ird1
GTF2I repeat domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:27,890,594...27,997,506
Ensembl chr12:22,254,221...22,361,040
G
Gtf2ird2
GTF2I repeat domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,497,767...22,536,455
Ensembl chr12:22,498,091...22,536,263
G
Gtpbp10
GTP binding protein 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:28,476,857...28,494,375
Ensembl chr 4:28,476,857...28,494,375
G
Gusb
glucuronidase, beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:32,337,281...32,350,838
Ensembl chr12:26,697,951...26,726,905
G
H2az2
H2A.Z variant histone 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,293,304...81,312,209
Ensembl chr14:81,293,299...81,312,144 Ensembl chr 4:81,293,299...81,312,144 Ensembl chr16:81,293,299...81,312,144
G
Hbp1
HMG-box transcription factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:54,257,118...54,283,373
Ensembl chr 6:48,529,372...48,555,787
G
Hdac9
histone deacetylase 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:56,489,472...57,351,654
Ensembl chr 6:50,763,590...51,625,333
G
Hecw1
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:55,366,904...55,780,028
Ensembl chr17:50,670,954...51,080,720
G
Hepacam2
HEPACAM family member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,446,195...31,480,859
Ensembl chr 4:31,446,169...31,480,953
G
Herpud2
HERPUD family member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:31,849,216...31,894,219
Ensembl chr 8:23,573,379...23,617,874
G
Hgf
hepatocyte growth factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409
G
Hibadh
3-hydroxyisobutyrate dehydrogenase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,979,759...83,077,819
Ensembl chr 4:81,649,175...81,780,617
G
Hilpda
hypoxia inducible lipid droplet-associated
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,836,463...58,839,423
Ensembl chr 4:57,871,110...57,874,557
G
Hip1
huntingtin interacting protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,769,868...26,904,367
Ensembl chr12:21,133,406...21,267,725
G
Hnrnpa2b1
heterogeneous nuclear ribonucleoprotein A2/B1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,867,354...81,875,886
Ensembl chr 4:80,534,651...80,545,249
G
Hotairm1
Hoxa transcript antisense RNA, myeloid-specific 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,258,793...81,262,291
G
Hoxa1
homeobox A1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,586,505...82,589,209
Ensembl chr 4:81,255,883...81,258,504
G
Hoxa10
homeobox A10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,662,204...82,671,490
Ensembl chr 4:81,331,591...81,340,919
G
Hoxa11
homeobox A11
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,673,139...82,676,801
Ensembl chr 4:81,342,528...81,346,232
G
Hoxa11-as
HOXA11 antisense RNA
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,346,416...81,350,190
Ensembl chr 4:81,346,416...81,350,179
G
Hoxa13
homeo box A13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,689,566...82,691,701
Ensembl chr 4:81,358,956...81,361,091
G
Hoxa2
homeobox A2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,593,389...82,597,589
Ensembl chr 4:81,262,768...81,265,044
G
Hoxa3
homeobox A3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,599,860...82,643,831
Ensembl chr 4:81,269,243...81,313,218
G
Hoxa4
homeo box A4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,620,294...82,622,302
Ensembl chr 4:81,289,682...81,291,685
G
Hoxa5
homeo box A5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,632,958...82,636,851
Ensembl chr 4:81,302,353...81,306,234
G
Hoxa6
homeobox A6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,637,024...82,639,463
Ensembl chr 4:81,306,407...81,308,850
G
Hoxa7
homeobox A7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,646,342...82,652,449
Ensembl chr 4:81,314,625...81,317,659
G
Hoxa9
homeobox A9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,653,847...82,659,958
Ensembl chr 4:81,323,382...81,326,358
G
Hspb1
heat shock protein family B (small) member 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,430,640...26,432,301
Ensembl chr12:20,794,028...20,795,743
G
Hus1
HUS1 checkpoint clamp component
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:87,902,458...87,917,221
Ensembl chr14:83,688,708...83,703,442
G
Hyal4
hyaluronidase 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:53,256,179...53,274,819
Ensembl chr 4:53,256,179...53,274,819
G
Hycc1
hyccin PI4KA lipid kinase complex subunit 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:11,132,224...11,239,120
Ensembl chr 4:11,132,385...11,239,113
G
Ifrd1
interferon-related developmental regulator 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:57,269,395...57,317,833
Ensembl chr 6:57,269,384...57,288,990
G
Ift22
intraflagellar transport 22
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,759,072...19,768,859
Ensembl chr12:19,761,790...19,768,809
G
Ift56
intraflagellar transport 56
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:67,090,660...67,147,903
G
Igf2bp3
insulin-like growth factor 2 mRNA binding protein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:79,391,367...79,525,923
Ensembl chr 4:78,060,494...78,194,865
G
Igfbp1
insulin-like growth factor binding protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:86,261,277...86,266,344
Ensembl chr14:82,047,415...82,052,482
G
Igfbp3
insulin-like growth factor binding protein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:86,270,208...86,277,944
Ensembl chr14:82,056,347...82,064,083
G
Ikzf1
IKAROS family zinc finger 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:90,468,696...90,556,522
Ensembl chr14:86,255,065...86,342,416
G
Il6
interleukin 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
G
Immp2l
inner mitochondrial membrane peptidase subunit 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:63,797,189...64,696,906
Ensembl chr 6:58,070,283...58,969,840
G
Impdh1
inosine monophosphate dehydrogenase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,767,230...58,782,825
Ensembl chr 4:57,801,831...57,819,076
G
Ing3
inhibitor of growth family, member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:51,439,218...51,469,502
Ensembl chr 4:50,477,962...50,503,715
G
Inhba
inhibin subunit beta A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:53,787,159...53,810,942
Ensembl chr17:49,095,920...49,108,982
G
Inmt
indolethylamine N-methyltransferase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,648,459...85,652,755
Ensembl chr 4:84,318,197...84,322,493
G
Iqub
IQ motif and ubiquitin domain containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:53,897,336...53,962,279
Ensembl chr 4:52,931,767...52,993,834
G
Irf5
interferon regulatory factor 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,092,914...59,104,596
Ensembl chr 4:58,127,640...58,139,267
G
Itgb8
integrin subunit beta 8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:146,267,982...146,351,245
Ensembl chr 6:140,127,203...140,208,476
G
Itprid1
ITPR interacting domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,015,264...85,172,457
Ensembl chr 4:85,015,190...85,172,331
G
Jazf1
JAZF zinc finger 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:83,210,054...83,513,790
Ensembl chr 4:81,881,061...82,183,100
G
Kbtbd2
kelch repeat and BTB domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:87,358,133...87,380,399
Ensembl chr 4:86,027,947...86,050,211
G
Kcnd2
potassium voltage-gated channel subfamily D member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:50,741,595...51,243,540
Ensembl chr 4:49,776,246...50,277,728
G
Kcp
kielin cysteine rich BMP regulator
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,082,856...58,118,170
Ensembl chr 4:58,082,857...58,109,768
G
Kctd7
potassium channel tetramerization domain containing 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,520,969...26,532,327
Ensembl chr12:26,523,142...26,532,138
G
Kdm7a
lysine demethylase 7A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:68,866,263...68,992,979
Ensembl chr 4:67,904,307...67,966,998
G
Kiaa1549
KIAA1549 homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:66,840,674...66,968,407
Ensembl chr 4:66,760,162...66,968,436
G
Klf14
KLF transcription factor 14
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,554,011...59,556,933
Ensembl chr 4:59,554,011...59,556,933
G
Klhdc10
kelch domain containing 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,988,710...60,046,518
Ensembl chr 4:59,021,310...59,074,941
G
Klhl7
kelch-like family member 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,006,375...11,055,541
G
Klrg2
killer cell lectin like receptor G2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,360,216...67,374,867
Ensembl chr 4:67,363,919...67,374,147
G
Kmt2e
lysine methyltransferase 2E
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:12,550,570...12,655,329
Ensembl chr 4:11,658,979...11,727,373
G
Kpna7
karyopherin subunit alpha 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,576,378...9,635,247
Ensembl chr12:9,576,378...9,612,833
G
Krit1
KRIT1, ankyrin repeat containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,253,918...31,288,066
Ensembl chr 4:30,299,203...30,333,359
G
Lamb1
laminin subunit beta 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:53,562,849...53,630,118
Ensembl chr 6:47,835,525...47,902,585
G
Lamtor4
late endosomal/lysosomal adaptor, MAPK and MTOR activator 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,258,656...17,262,478
Ensembl chr12:17,258,623...17,262,480
G
Lancl2
LanC like glutathione S-transferase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:88,771,974...88,813,920
Ensembl chr 4:87,441,823...87,482,800
G
Lat2
linker for activation of T cells family, member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,104,173...22,118,294
Ensembl chr12:22,104,219...22,118,288
G
Lep
leptin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,626,529...58,640,663
Ensembl chr 4:57,661,131...57,675,262
G
Lhfpl3
LHFPL tetraspan subfamily member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
G
Limk1
LIM domain kinase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:27,663,177...27,697,085
Ensembl chr12:22,026,672...22,060,606
G
Lmod2
leiomodin 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:54,032,974...54,040,670
Ensembl chr 4:53,067,428...53,075,120
G
Lmtk2
lemur tyrosine kinase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:15,540,428...15,622,392
Ensembl chr12:10,426,777...10,508,750
G
LOC120095955
mucin-12-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,486,041...19,493,995
G
Lrch4
leucine rich repeats and calponin homology domain containing 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:24,694,364...24,709,354
Ensembl chr12:19,057,587...19,068,577
G
Lrguk
leucine-rich repeats and guanylate kinase domain containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:62,647,222...62,770,268
Ensembl chr 4:62,647,264...62,770,319
G
Lrrc17
leucine rich repeat containing 17
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,393,632...14,424,048
Ensembl chr 4:13,501,436...13,531,845
G
Lrrc4
leucine rich repeat containing 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,433,518...57,437,114
Ensembl chr 4:57,433,428...57,437,911
G
Lrrc72
leucine rich repeat containing 72
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:52,935,387...52,995,552
Ensembl chr 6:52,935,387...52,995,540
G
Lrrd1
leucine-rich repeats and death domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,263,147...30,293,119
Ensembl chr 4:30,264,862...30,293,173
G
Lrrn3
leucine rich repeat neuronal 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:64,216,164...64,247,293
Ensembl chr 6:58,489,010...58,520,330
G
Lrwd1
leucine-rich repeats and WD repeat domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,166,648...26,179,689
Ensembl chr12:20,530,012...20,549,536
G
Lsm5
LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,951,073...85,954,289
Ensembl chr 6:104,652,477...104,654,165 Ensembl chr 4:104,652,477...104,654,165
G
Lsm8
LSM8 homolog, U6 small nuclear RNA associated
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:47,306,259...47,312,125
Ensembl chr 4:47,306,295...47,314,293
G
Lsmem1
leucine-rich single-pass membrane protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:62,978,880...62,988,750
Ensembl chr 6:57,252,056...57,261,653
G
Luc7l2
LUC7-like 2 pre-mRNA splicing factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:68,251,435...68,314,861
Ensembl chr 4:67,287,640...67,347,964
G
Macc1
MET transcriptional regulator MACC1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:146,495,544...146,574,254
Ensembl chr 6:140,352,755...140,430,255
G
Magi2
membrane associated guanylate kinase, WW and PDZ domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:15,278,518...16,762,427
Ensembl chr 4:14,386,399...15,870,240
G
Malsu1
mitochondrial assembly of ribosomal large subunit 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:78,051,090...78,059,913
Ensembl chr 4:78,051,059...78,059,905
G
Matcap2
microtubule associated tyrosine carboxypeptidase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:29,197,154...29,247,056
Ensembl chr 8:20,921,244...20,971,069
G
Mblac1
metallo-beta-lactamase domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,071,465...17,072,736
Ensembl chr12:17,071,465...17,072,735
G
Mcm7
minichromosome maintenance complex component 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,155,921...22,163,320
Ensembl chr12:17,042,212...17,050,063
G
Mdfic
MyoD family inhibitor domain containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:44,938,301...45,018,157
Ensembl chr 4:43,972,507...44,052,161
G
Mdh2
malate dehydrogenase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,530,886...26,543,841
Ensembl chr12:20,894,262...20,907,271
G
Meox2
mesenchyme homeobox 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:59,584,025...59,644,722
Ensembl chr 6:53,856,758...53,917,467
G
Mepce
methylphosphate capping enzyme
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:18,911,796...18,916,515
Ensembl chr12:18,911,796...18,916,514
G
Mest
mesoderm specific transcript
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,354,445...59,364,919
Ensembl chr 4:59,354,447...59,366,145
G
Met
MET proto-oncogene, receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:45,790,791...45,897,876
G
Mettl27
methyltransferase like 27
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,757,545...21,766,698
Ensembl chr12:21,757,329...21,766,685
G
Mindy4
MINDY lysine 48 deubiquitinase 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,689,049...85,797,553
Ensembl chr 4:84,358,902...84,463,395
G
Mir106b
microRNA 106b
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,157,053...22,157,134
Ensembl chr12:17,043,344...17,043,425
G
Mir148a
microRNA 148a
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,664,431...81,664,527
Ensembl chr 4:80,333,762...80,333,858
G
Mir182
microRNA 182
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,752,246...59,752,307
Ensembl chr 4:58,784,818...58,784,879
G
Mir183
microRNA 183
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,756,044...59,756,153
Ensembl chr 4:58,788,614...58,788,723
G
Mir196b
microRNA 196b
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,661,101...82,661,185
Ensembl chr 4:81,330,487...81,330,571
G
Mir25
microRNA 25
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,156,641...22,156,724
Ensembl chr12:17,042,932...17,043,015
G
Mir29a
microRNA 29a
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:60,617,955...60,618,042
G
Mir29b1
microRNA 29b-1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:60,618,334...60,618,414
Ensembl chr 4:59,650,986...59,651,067
G
Mir489
microRNA 489
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,693,355...31,693,460
Ensembl chr 4:31,693,355...31,693,460
G
Mir93
microRNA 93
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,156,844...22,156,930
Ensembl chr12:17,043,135...17,043,221
G
Mir96
microRNA 96
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,755,841...59,755,946
Ensembl chr 4:58,788,411...58,788,516
G
Mkln1
muskelin 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,815,912...60,124,047
Ensembl chr 4:60,002,464...60,123,993
G
Mkrn1
makorin ring finger protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:68,175,908...68,197,216
Ensembl chr 4:68,175,909...68,197,165 Ensembl chr 9:68,175,909...68,197,165
G
Mlxipl
MLX interacting protein-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:27,178,158...27,213,675
Ensembl chr12:21,543,576...21,577,112
G
Mogat3
monoacylglycerol O-acyltransferase 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,668,703...19,669,420
Ensembl chr12:19,668,788...19,670,754
G
Mospd3
motile sperm domain containing 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,095,203...19,100,303
Ensembl chr12:19,095,242...19,099,477
G
Mplkip
M-phase specific PLK1 interacting protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:47,373,624...47,376,199
Ensembl chr17:47,373,845...47,376,204
G
Mrpl32
mitochondrial ribosomal protein L32
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:55,260,651...55,263,517
Ensembl chr17:50,565,055...50,568,010
G
Mrps17
mitochondrial ribosomal protein S17
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:32,584,635...32,587,934
Ensembl chr12:26,948,730...26,951,737 Ensembl chr12:26,948,730...26,951,737
G
Mrps24
mitochondrial ribosomal protein S24
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,584,671...80,588,801
Ensembl chr14:80,584,673...80,588,871
G
Mterf1
mitochondrial transcription termination factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:30,226,345...30,233,402
Ensembl chr 4:30,226,343...30,233,584
G
Mtpn
myotrophin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:65,126,390...65,153,803
Ensembl chr 4:64,157,641...64,186,724
G
Mturn
maturin, neural progenitor differentiation regulator homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,137,825...85,158,790
Ensembl chr 4:83,807,579...83,824,950
G
Muc17
mucin 17, cell surface associated
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:25,139,076...25,175,249
Ensembl chr12:19,527,321...19,538,522
G
Muc3a
mucin 3A, cell surface associated
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,450,679...19,454,753
Ensembl chr12:19,446,094...19,460,522
G
Myl10
myosin light chain 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,969,174...19,982,627
Ensembl chr12:19,970,055...19,978,614
G
Myl7
myosin light chain 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,780,684...80,783,259
Ensembl chr14:80,779,776...80,783,244
G
Myo1g
myosin IG
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:85,600,619...85,615,760
Ensembl chr14:81,386,701...81,401,843
G
Nacad
NAC alpha domain containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781
G
Nampt
nicotinamide phosphoribosyltransferase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:55,152,756...55,189,547
Ensembl chr 6:49,424,332...49,462,100
G
Napepld
N-acyl phosphatidylethanolamine phospholipase D
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,251,591...14,291,010
Ensembl chr 4:13,361,006...13,398,748
G
Ncf1
neutrophil cytosolic factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:28,121,816...28,131,080
Ensembl chr12:22,485,451...22,494,646
G
Ndufa5
NADH:ubiquinone oxidoreductase subunit A5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:53,962,877...53,971,235
Ensembl chr 4:52,995,546...53,005,598 Ensembl chr 5:52,995,546...53,005,598
G
Ndufb2
NADH:ubiquinone oxidoreductase subunit B2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:68,367,526...68,374,609
Ensembl chr15:46,536,062...46,536,851 Ensembl chr 4:46,536,062...46,536,851
G
Neurod6
neuronal differentiation 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:86,176,909...86,180,155
Ensembl chr 4:84,846,231...84,849,999
G
Nfe2l3
NFE2 like bZIP transcription factor 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,837,404...81,865,258
Ensembl chr 4:80,506,756...80,534,629
G
Nipsnap2
nipsnap homolog 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:32,542,171...32,580,345
Ensembl chr12:26,911,723...26,944,166
G
Nme8
NME/NM23 family member 8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:49,932,861...50,000,610
Ensembl chr17:45,238,120...45,304,948
G
Nod1
nucleotide-binding oligomerization domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,391,142...85,442,281
Ensembl chr 4:84,060,880...84,111,404
G
Npc1l1
NPC1 like intracellular cholesterol transporter 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:85,285,387...85,305,050
Ensembl chr14:81,071,451...81,091,113
G
Npsr1
neuropeptide S receptor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:30,882,830...31,107,425
Ensembl chr 8:22,606,946...22,831,558
G
Nptx2
neuronal pentraxin 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:15,151,136...15,162,045
Ensembl chr12:10,037,435...10,048,345
G
Npvf
neuropeptide VF precursor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:79,712,358...79,716,275
Ensembl chr 4:79,712,520...79,716,236
G
Npy
neuropeptide Y
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:80,212,111...80,219,310
Ensembl chr 4:78,881,264...78,888,495
G
Nrcam
neuronal cell adhesion molecule
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:67,129,723...67,425,510
Ensembl chr 6:61,329,863...61,702,992
G
Nrf1
nuclear respiratory factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,632,366...59,738,166
Ensembl chr 4:58,664,957...58,825,328
G
Nsun5
NOP2/Sun RNA methyltransferase 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,930,204...26,935,887
Ensembl chr12:21,293,645...21,299,272
G
Nt5c3a
5'-nucleotidase, cytosolic IIIA
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:87,491,828...87,534,838
Ensembl chr 4:86,161,643...86,204,628
G
Nudcd3
NudC domain containing 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:85,190,276...85,273,655
Ensembl chr14:80,976,328...81,058,962
G
Nup205
nucleoporin 205
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:64,822,051...64,887,996
Ensembl chr 4:63,854,783...63,920,844
G
Nup42
nucleoporin 42
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:10,985,554...11,002,591
Ensembl chr 4:10,985,554...11,002,591
G
Nupr2
nuclear protein 2, transcriptional regulator
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:32,436,233...32,439,391
Ensembl chr12:26,799,800...26,803,304
G
Nyap1
neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:18,956,192...18,967,624
Ensembl chr12:18,956,268...18,967,543
G
Ogdh
oxoglutarate dehydrogenase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:85,363,949...85,431,405
Ensembl chr14:81,150,091...81,217,479
G
Opn1sw
opsin 1, short wave sensitive
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,977,317...57,980,457
Ensembl chr 4:57,977,313...57,980,457
G
Orai2
ORAI calcium release-activated calcium modulator 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,500,308...20,520,428
Ensembl chr12:20,497,317...20,520,428
G
Orc5
origin recognition complex, subunit 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:12,548,007...12,612,611
Ensembl chr 4:12,548,007...12,612,568
G
Osbpl3
oxysterol binding protein-like 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:80,677,383...80,854,169
Ensembl chr 4:79,350,349...79,523,393
G
Pals2
protein associated with LIN7 2, MAGUK p55 family member
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:79,173,488...79,257,542
Ensembl chr 4:79,124,806...79,254,140
G
Parp12
poly (ADP-ribose) polymerase family, member 12
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:68,793,411...68,851,214
Ensembl chr 4:67,839,237...67,883,685
G
Pax4
paired box 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,058,453...57,065,995
Ensembl chr 4:57,058,462...57,063,408
G
Pclo
piccolo (presynaptic cytomatrix protein)
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:20,646,604...21,005,171
Ensembl chr 4:19,695,315...20,049,885
G
Pcolce
procollagen C-endopeptidase enhancer
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:24,720,972...24,727,287
Ensembl chr12:19,084,210...19,090,508
G
Pdap1
PDGFA associated protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:14,584,414...14,594,641
Ensembl chr12:9,470,574...9,535,374
G
Pde1c
phosphodiesterase 1C
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:86,629,074...87,108,147
Ensembl chr 4:85,300,858...85,863,219
G
Pdk4
pyruvate dehydrogenase kinase 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:34,558,327...34,568,329
Ensembl chr 4:33,589,799...33,601,850
G
Peg10
paternally expressed 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:33,809,026...33,822,224
Ensembl chr 4:32,848,493...32,852,621
G
Pex1
peroxisomal biogenesis factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,474,670...31,513,621
Ensembl chr 4:30,519,955...30,558,921
G
Pgam2
phosphoglycerate mutase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:84,895,763...84,897,874
Ensembl chr14:80,681,776...80,683,940
G
Phkg1
phosphorylase kinase catalytic subunit gamma 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:32,474,926...32,490,657
Ensembl chr12:26,838,968...26,852,850
G
Phtf2
putative homeodomain transcription factor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:15,107,341...15,222,683
Ensembl chr 4:14,215,263...14,330,513
G
Pik3cg
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:54,494,247...54,529,563
Ensembl chr 6:48,766,864...48,802,043
G
Pilra
paired immunoglobin-like type 2 receptor alpha
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,787,169...17,798,149
Ensembl chr12:17,787,127...17,798,094
G
Pkd1l1
polycystin 1 like 1, transient receptor potential channel interacting
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:83,552,964...83,670,062
Ensembl chr14:83,545,469...83,638,498
G
Plekha8
pleckstrin homology domain containing A8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,053,765...85,104,376
Ensembl chr 4:83,723,561...83,774,081
G
Plod3
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:25,313,070...25,323,631
Ensembl chr12:19,676,386...19,686,960
G
Plxna4
plexin A4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:61,687,483...62,129,467
Ensembl chr 4:60,720,255...61,162,206
G
Pmpcb
peptidase, mitochondrial processing subunit beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,189,807...14,202,584
Ensembl chr 4:13,297,559...13,310,367
G
Pnpla8
patatin-like phospholipase domain containing 8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:61,329,810...61,391,736
Ensembl chr 6:61,329,810...61,391,734
G
Podxl
podocalyxin-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:61,102,434...61,149,131
Ensembl chr 4:60,135,109...60,181,899
G
Pold2
DNA polymerase delta 2, accessory subunit
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:84,962,933...84,969,148
Ensembl chr14:80,748,974...80,755,160
G
Polm
DNA polymerase mu
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,707,075...80,716,677
Ensembl chr14:80,706,345...80,717,086
G
Polr1f
RNA polymerase I subunit F
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:50,053,289...50,070,514
Ensembl chr 6:50,053,289...50,070,514
G
Polr2j
RNA polymerase II subunit J
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,179,649...26,185,201
Ensembl chr12:20,543,038...20,548,594
G
Pom121
POM121 transmembrane nucleoporin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,273,713...21,294,299
Ensembl chr12:21,276,913...21,294,294
G
Pom121l12
POM121 transmembrane nucleoporin-like 12
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:89,108,535...89,109,604
Ensembl chr14:89,108,572...89,109,408
G
Pon1
paraoxonase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:33,294,722...33,321,360
G
Pon2
paraoxonase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:34,356,270...34,391,684
Ensembl chr 4:33,389,714...33,425,248
G
Pon3
paraoxonase 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:34,323,546...34,350,244
Ensembl chr 4:33,349,168...33,383,855
G
Pop7
POP7 homolog, ribonuclease P/MRP subunit
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,189,384...19,190,425
Ensembl chr12:19,189,138...19,190,674
G
Por
cytochrome p450 oxidoreductase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,587,674...26,655,612
Ensembl chr12:20,951,058...20,999,245
G
Pot1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:55,170,821...55,228,588
Ensembl chr 4:54,205,332...54,263,042
G
Pou6f2
POU class 6 homeobox 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:46,472,182...46,886,796
Ensembl chr17:46,472,181...46,921,039
G
Ppia
peptidylprolyl isomerase A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:85,491,223...85,496,884
Ensembl chr14:81,275,091...81,299,601
G
Ppp1r17
protein phosphatase 1, regulatory subunit 17
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:86,544,024...86,560,839
Ensembl chr 4:85,213,887...85,230,603
G
Ppp1r35
protein phosphatase 1, regulatory subunit 35
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:18,915,909...18,919,253
G
Ppp1r3a
protein phosphatase 1, regulatory subunit 3A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:43,905,648...43,946,236
Ensembl chr 4:42,939,599...42,980,638
G
Ppp1r9a
protein phosphatase 1, regulatory subunit 9A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:33,936,949...34,258,927
Ensembl chr 4:33,024,450...33,286,907
G
Prkar2b
protein kinase cAMP-dependent type II regulatory subunit beta
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:54,291,143...54,381,639
Ensembl chr 6:48,563,662...48,653,933
G
Prkrip1
PRKR interacting protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,107,422...26,128,404
Ensembl chr12:20,470,820...20,489,115
G
Prps1l1
phosphoribosyl pyrophosphate synthetase 1-like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:57,412,331...57,414,021
Ensembl chr 6:51,684,948...51,687,291
G
Prr15
proline rich 15
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:83,432,002...83,435,582
Ensembl chr 4:83,431,758...83,437,436
G
Prrt4
proline-rich transmembrane protein 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,766,054...57,777,087
Ensembl chr 4:57,766,263...57,777,020
G
Psma2
proteasome 20S subunit alpha 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:55,250,054...55,260,441
Ensembl chr17:50,551,924...50,564,938
G
Psmc2
proteasome 26S subunit, ATPase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,148,080...14,162,390
Ensembl chr 4:13,255,856...13,270,185
G
Psph
phosphoserine phosphatase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:32,527,091...32,541,182
Ensembl chr12:26,883,133...26,905,074
G
Ptcd1
pentatricopeptide repeat domain 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,445,656...9,463,434
Ensembl chr12:9,445,714...9,463,508
G
Ptn
pleiotrophin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:66,260,764...66,342,614
Ensembl chr 4:65,293,734...65,375,456
G
Ptpn12
protein tyrosine phosphatase, non-receptor type 12
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,020,997...14,092,931
Ensembl chr 4:14,021,052...14,092,927
G
Ptprz1
protein tyrosine phosphatase, receptor type Z1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:52,363,006...52,560,905
Ensembl chr 4:51,397,601...51,595,218
G
Purb
purine rich element binding protein B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,342,374...81,344,857
Ensembl chr14:81,336,448...81,351,432
G
Pus7
pseudouridine synthase 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:12,252,553...12,293,547
Ensembl chr 4:11,360,188...11,401,172
G
Pvrig
PVR related immunoglobulin domain containing
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,474,441...22,479,191
Ensembl chr12:17,364,080...17,365,280
G
Rab19
RAB19, member RAS oncogene family
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:68,157,159...68,166,889
Ensembl chr 4:68,156,881...68,166,886
G
Rabgef1
RAB guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:32,096,338...32,139,949
Ensembl chr12:26,460,175...26,503,744
G
Rala
RAS like proto-oncogene A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:51,787,682...51,840,738
Ensembl chr17:47,092,207...47,144,063
G
Ramp3
receptor activity modifying protein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,527,404...81,544,905
Ensembl chr14:81,527,385...81,544,902
G
Rapgef5
Rap guanine nucleotide exchange factor 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:144,588,162...144,822,908
Ensembl chr 6:138,437,991...138,679,936
G
Rasa4
RAS p21 protein activator 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,552,805...20,580,177
Ensembl chr12:20,552,806...20,580,147
G
Rbm28
RNA binding motif protein 28
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:57,722,946...57,761,935
Ensembl chr 4:57,722,223...57,761,653
G
Rbm48
RNA binding motif protein 48
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,513,811...31,524,149
Ensembl chr 4:30,559,087...30,569,406
G
Rcc1l
RCC1 like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:28,179,205...28,210,462
Ensembl chr12:22,543,734...22,574,036
G
Reln
reelin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:13,628,440...14,055,201
Ensembl chr 4:12,736,130...13,162,211
G
Rfc2
replication factor C subunit 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:27,756,920...27,770,049
Ensembl chr12:22,120,010...22,133,557
G
Rhbdd2
rhomboid domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,043,605...21,054,305
Ensembl chr12:21,043,608...21,054,289
G
Rint1
RAD50 interactor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:12,211,806...12,248,117
Ensembl chr 4:11,320,955...11,355,736
G
Rnf133
ring finger protein 133
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:53,106,097...53,109,032
Ensembl chr 4:52,140,247...52,143,379
G
Rnf148
ring finger protein 148
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:52,145,798...52,152,508
G
Rp9
RP9, pre-mRNA splicing factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:20,955,447...21,005,225
Ensembl chr 8:20,941,362...21,005,175
G
Rsbn1l
round spermatid basic protein 1-like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,138,076...14,203,972
Ensembl chr 4:14,139,031...14,201,147
G
Rundc3b
RUN domain containing 3B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:25,462,543...25,599,477
Ensembl chr 4:25,462,752...25,599,471
G
Samd9
sterile alpha motif domain containing 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322
G
Samd9l
sterile alpha motif domain containing 9 like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:32,316,748...32,331,112
Ensembl chr 4:31,361,669...31,376,415
G
Samtor
S-adenosylmethionine sensor upstream of mTORC1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:42,847,720...42,911,546
Ensembl chr 4:41,879,993...41,945,539
G
Sap25
Sin3A-associated protein 25
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,055,762...19,057,425
Ensembl chr12:19,055,763...19,076,089
G
Sbds
Sbds, ribosome maturation factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:32,056,649...32,065,816
Ensembl chr12:26,420,414...26,429,649
G
Scin
scinderin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:62,836,641...62,915,287
Ensembl chr 6:57,109,403...57,188,242
G
Scrn1
secernin 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:84,962,450...85,024,577
Ensembl chr 4:83,632,131...83,693,852
G
Sdhaf3
succinate dehydrogenase complex assembly factor 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:35,100,533...35,160,740
Ensembl chr 4:35,100,506...35,160,749
G
Sec61g
Sec61 translocon subunit gamma
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:90,899,766...90,906,143
Ensembl chr14:90,899,768...90,906,162 Ensembl chr 9:90,899,768...90,906,162
G
Sem1
SEM1 26S proteasome subunit
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:35,638,306...35,658,462
Ensembl chr 4:34,671,848...34,692,005
G
Sema3a
semaphorin 3A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:22,239,418...22,709,907
Ensembl chr 4:21,287,982...21,494,432
G
Sema3c
semaphorin 3C
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:18,538,452...18,702,453
Ensembl chr 4:17,583,212...17,746,534
G
Sema3d
semaphorin 3D
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:23,271,815...23,460,971
Ensembl chr 4:22,316,779...22,505,930
G
Sema3e
semaphorin 3E
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:21,252,686...21,510,449
Ensembl chr 4:20,299,718...20,555,229
G
Septin14
septin 14
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,975,283...27,005,588
Ensembl chr12:26,975,344...26,998,299
G
Septin7
septin 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:31,995,597...32,059,069
Ensembl chr 8:23,716,030...23,783,243
G
Serpine1
serpin family E member 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:25,237,977...25,248,356
Ensembl chr12:19,601,272...19,611,657
G
Sfrp4
secreted frizzled-related protein 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:49,974,532...50,026,448
Ensembl chr17:45,234,097...45,330,736
G
Sgce
sarcoglycan, epsilon
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:33,738,066...33,808,907
Ensembl chr 4:32,771,477...32,842,254
G
Sh2b2
SH2B adaptor protein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,063,812...26,093,468
Ensembl chr12:20,429,043...20,456,844
G
Skap2
src kinase associated phosphoprotein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:82,281,221...82,431,664
Ensembl chr 4:80,950,580...81,100,891
G
Slc12a9
solute carrier family 12, member 9
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:25,005,741...25,022,628
Ensembl chr12:19,369,004...19,385,877
G
Slc13a1
solute carrier family 13 member 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:52,569,179...52,647,126
Ensembl chr 4:52,569,375...52,647,099
G
Slc13a4
solute carrier family 13 member 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:64,910,505...64,955,986
Ensembl chr 4:63,943,395...63,988,857
G
Slc25a13
solute carrier family 25 member 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:35,145,721...35,328,403
Ensembl chr 4:34,179,224...34,361,902
G
Slc25a40
solute carrier family 25, member 40
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:25,631,447...25,676,454
Ensembl chr 4:25,589,360...25,676,472
G
Slc26a3
solute carrier family 26 member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:53,751,415...53,792,300
Ensembl chr 6:48,023,892...48,064,772
G
Slc26a4
solute carrier family 26 member 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:53,835,102...53,873,968
Ensembl chr 6:48,107,588...48,145,703
G
Slc26a5
solute carrier family 26 member 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,102,492...14,141,520
Ensembl chr 4:13,210,260...13,249,289
G
Slc35b4
solute carrier family 35 member B4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,744,188...63,766,200
Ensembl chr 4:62,776,993...62,799,003
G
Slc37a3
solute carrier family 37, member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:68,109,314...68,153,590
Ensembl chr 4:68,081,939...68,153,568
G
Smkr1
small lysine-rich protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,595,363...58,609,149
Ensembl chr 4:58,601,660...58,609,229
G
Smo
smoothened, frizzled class receptor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,311,084...59,341,280
Ensembl chr 4:58,343,529...58,373,829
G
Smurf1
SMAD specific E3 ubiquitin protein ligase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:14,748,717...14,840,273
Ensembl chr12:9,635,025...9,726,519
G
Snd1
staphylococcal nuclease and tudor domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,060,689...58,459,926
Ensembl chr 4:57,095,208...57,530,843
G
Snora5c
small nucleolar RNA, H/ACA box 5C
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:81,487,218...81,487,354
Ensembl chr14:81,487,218...81,487,354
G
Snx10
sorting nexin 10
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:81,943,262...82,007,667
Ensembl chr 4:80,612,669...80,676,996
G
Snx13
sorting nexin 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:57,478,139...57,589,624
Ensembl chr 6:51,753,036...51,860,224
G
Sostdc1
sclerostin domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:53,051,336...53,055,510
Ensembl chr 6:53,051,354...53,055,579
G
Sp4
Sp4 transcription factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:145,330,416...145,395,750
Ensembl chr 6:139,192,147...139,252,126
G
Sp8
Sp8 transcription factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:145,959,219...145,961,824
Ensembl chr 6:139,814,819...139,823,168 Ensembl chr 6:139,814,819...139,823,168
G
Spacdr
sperm acrosome developmental regulator
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:24,567,407...24,573,586
Ensembl chr12:18,914,398...18,952,008
G
Spam1
sperm adhesion molecule 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:53,302,745...53,312,913
Ensembl chr 4:53,302,745...53,312,908
G
Spmip4
sperm microtubule inner protein 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:79,663,375...79,688,291
Ensembl chr 4:79,663,376...79,689,072
G
Spmip7
sperm microtubule inner protein 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:86,030,427...86,085,644
Ensembl chr14:86,030,655...86,085,644
G
Sri
sorcin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:26,928,338...26,952,980
Ensembl chr 4:25,966,750...25,998,077
G
Srpk2
SRSF protein kinase 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:12,356,983...12,548,345
Ensembl chr 4:11,464,674...11,655,990
G
Srrm3
serine/arginine repetitive matrix 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,808,878...20,878,557
Ensembl chr12:20,809,089...20,878,505
G
Srrt
serrate, RNA effector molecule
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:25,027,883...25,042,847
Ensembl chr12:19,392,625...19,406,095
G
Ssc4d
scavenger receptor cysteine rich family member with 4 domains
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,702,931...20,723,732
Ensembl chr12:20,702,950...20,718,706
G
Ssmem1
serine-rich single-pass membrane protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,128,730...59,139,029
Ensembl chr 4:59,128,730...59,145,007
G
St7
suppression of tumorigenicity 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:47,007,568...47,255,639
Ensembl chr 4:46,042,236...46,289,740
G
Stag3
STAG3 cohesin complex component
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,398,291...22,428,548
Ensembl chr12:17,284,794...17,314,935
G
Stard3nl
STARD3 N-terminal like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:50,278,859...50,312,864
Ensembl chr17:45,583,266...45,617,226
G
Steap1
STEAP family member 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:29,231,809...29,242,317
Ensembl chr 4:28,276,909...28,287,479
G
Steap2
STEAP2 metalloreductase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:29,302,487...29,323,006
Ensembl chr 4:28,348,362...28,375,791
G
Steap4
STEAP4 metalloreductase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:27,032,096...27,054,769
Ensembl chr 4:26,054,671...26,099,859
G
Stk31
serine threonine kinase 31
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:79,701,470...79,797,085
Ensembl chr 4:78,370,649...78,466,240
G
Stmp1
short transmembrane mitochondrial protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:64,894,663...64,904,495
G
Stra8
stimulated by retinoic acid 8
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:64,568,580...64,591,914
Ensembl chr 4:63,601,604...63,624,771
G
Strip2
striatin interacting protein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:58,536,034...58,578,279
Ensembl chr 4:58,536,055...58,578,291
G
Stx1a
syntaxin 1A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:27,278,517...27,306,547
Ensembl chr12:21,641,969...21,669,930
G
Styxl1
serine/threonine/tyrosine interacting-like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,544,059...26,576,365
Ensembl chr12:20,907,435...20,939,752
G
Sugct
succinylCoA:glutarate-CoA transferase
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:52,072,012...52,929,852
Ensembl chr17:47,376,521...48,234,376
G
Sumf2
sulfatase modifying factor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,853,561...26,871,835
Ensembl chr12:26,853,200...26,871,816
G
Sun3
Sad1 and UNC84 domain containing 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:87,923,891...87,962,699
Ensembl chr14:83,710,140...83,735,830
G
Svopl
SVOP like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,663,652...67,725,691
Ensembl chr 4:66,698,177...66,758,978
G
Sypl1
synaptophysin-like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:49,565,111...49,585,205
Ensembl chr 6:49,565,154...49,585,330
G
Tac1
tachykinin, precursor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:36,645,344...36,653,548
Ensembl chr 4:35,679,704...35,687,178
G
Taf6
TATA-box binding protein associated factor 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,169,570...22,178,031
Ensembl chr12:17,055,873...17,064,247
G
Tas2r118
taste receptor, type 2, member 118
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:52,449,208...52,450,107
Ensembl chr 4:52,449,208...52,450,107
G
Tax1bp1
Tax1 binding protein 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:83,152,549...83,208,463
Ensembl chr 4:81,821,989...81,879,100
G
Tbl2
transducin (beta)-like 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:27,154,150...27,168,446
Ensembl chr12:21,520,682...21,531,896
G
Tbrg4
transforming growth factor beta regulator 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:85,696,738...85,704,691
Ensembl chr14:81,481,981...81,490,756
G
Tbx20
T-box transcription factor 20
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 8:31,475,963...31,534,051
Ensembl chr 8:23,204,507...23,258,175
G
Tbxas1
thromboxane A synthase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:68,631,841...68,803,959
Ensembl chr 4:67,665,007...67,837,096
G
Tcrg
T cell receptor gamma chain
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:45,622,041...45,666,123
G
Tecpr1
tectonin beta-propeller repeat containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:15,504,456...15,534,541
Ensembl chr12:10,391,696...10,419,611
G
Tes
testin LIM domain protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:46,331,257...46,369,782
Ensembl chr 4:45,365,285...45,403,829
G
Tex47
testis expressed 47
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:26,644,098...26,647,393
Ensembl chr 4:26,599,738...26,647,430
G
Tfec
transcription factor EC
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:46,072,093...46,146,200
Ensembl chr 4:45,107,641...45,180,236
G
Tfpi2
tissue factor pathway inhibitor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:32,936,462...32,941,385
Ensembl chr 4:31,982,178...31,986,600
G
Tfr2
transferrin receptor 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:24,744,450...24,761,413
Ensembl chr12:19,107,673...19,124,591
G
Tmed4
transmembrane p24 trafficking protein 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:85,338,980...85,343,577
Ensembl chr14:81,125,053...81,129,631
G
Tmem106b
transmembrane protein 106B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:42,294,074...42,313,426
Ensembl chr 4:41,327,994...41,345,619
G
Tmem120a
transmembrane protein 120A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,942,243...20,950,908
Ensembl chr12:20,942,439...20,990,316
G
Tmem130
transmembrane protein 130
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,837,055...9,862,843
Ensembl chr12:9,837,055...9,862,840
G
Tmem140
transmembrane protein 140
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:63,536,477...63,547,478
Ensembl chr 4:63,536,168...63,548,455
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Tmem168
transmembrane protein 168
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:42,796,714...42,824,854
Ensembl chr 4:41,830,624...41,858,776
G
Tmem196
transmembrane protein 196
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:140,895,556...140,959,501
Ensembl chr 6:140,896,576...140,957,435
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Tmem209
transmembrane protein 209
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,102,943...59,128,636
Ensembl chr 4:59,101,550...59,128,630
G
Tmem213
transmembrane protein 213
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:66,825,040...66,831,070
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Tmem229a
transmembrane protein 229A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:53,440,287...53,445,286
Ensembl chr 4:53,443,831...53,444,940
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Tmem243
transmembrane protein 243
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:24,950,791...24,968,642
Ensembl chr 4:24,950,791...24,968,642
G
Tmem248
transmembrane protein 248
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,430,775...26,457,105
Ensembl chr12:26,432,953...26,457,105
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Tmem270
transmembrane protein 270
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:27,430,092...27,435,243
Ensembl chr12:21,794,130...21,798,731
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Tmem60
transmembrane protein 60
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:14,210,029...14,214,884
Ensembl chr 4:14,210,029...14,215,063
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Tnpo3
transportin 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,108,278...59,197,012
Ensembl chr 4:58,143,001...58,220,433
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Tns3
tensin 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:87,387,441...87,619,457
Ensembl chr14:83,173,649...83,405,998
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Tomm7
translocase of outer mitochondrial membrane 7
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:12,197,503...12,204,344
Ensembl chr 4:11,305,110...11,311,962
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:1349175 PMID:1565143 PMID:1565144 PMID:1631137 PMID:8401536 PMID:8402598 PMID:8425176 PMID:8718514 PMID:8829627 PMID:11370630 PMID:11782540 PMID:12826609 PMID:15958617 PMID:16206219 PMID:16818505 PMID:17015838 PMID:17606709 PMID:19012332 PMID:19468865 PMID:20407015 PMID:21059199 PMID:21305319 PMID:21343334 PMID:21519010 PMID:21761402 PMID:22186996 PMID:22672556 PMID:22915647 PMID:23161690 PMID:23246812 PMID:24573247 PMID:24857548 PMID:25186627 PMID:25584008 PMID:25619955 PMID:25741868 PMID:25952993 PMID:26014290 PMID:26230955 PMID:26585234 PMID:26845104 PMID:26878390 PMID:26911350 PMID:27077130 PMID:27276561 PMID:27463065 PMID:27680515 PMID:27895058 PMID:27959731 PMID:28369373 PMID:28472496 PMID:28492532 PMID:28975465 PMID:29581140 PMID:29979965 PMID:30224644 PMID:30327374 PMID:30709381 PMID:30816478 PMID:32000721 PMID:32475984 PMID:33300245 PMID:33407742 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Tpst1
tyrosylprotein sulfotransferase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:32,180,688...32,247,478
Ensembl chr12:26,544,536...26,605,704
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Tra2a
transformer 2 alpha
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:78,220,838...78,239,737
Ensembl chr 4:78,220,883...78,239,712
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Trappc14
trafficking protein particle complex subunit 14
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:17,262,748...17,267,093
Ensembl chr12:17,262,750...17,267,084
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Tril
TLR4 interactor with leucine-rich repeats
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:84,252,781...84,257,626
Ensembl chr 4:82,922,328...82,927,172
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Trim24
tripartite motif-containing 24
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,534,240...67,659,014
Ensembl chr 4:66,566,686...66,717,241
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Trim50
tripartite motif-containing 50
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:21,300,784...21,317,668
Ensembl chr12:21,300,785...21,317,668
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Trim56
tripartite motif containing 56
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:25,193,224...25,204,032
Ensembl chr12:19,551,521...19,567,462
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Trip6
thyroid hormone receptor interactor 6
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:25,022,959...25,027,366
Ensembl chr12:19,386,014...19,390,618
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Trrap
transformation/transcription domain-associated protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:14,851,758...14,941,444
Ensembl chr12:9,738,006...9,827,674
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Tsc1
TSC complex subunit 1
ISO
mRNA:decreased expression:brain
RGD
PMID:16909113
RGD:11570509
NCBI chr 3:32,367,434...32,416,565
Ensembl chr 3:11,979,729...12,015,674
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Tsc22d4
TSC22 domain family, member 4
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:18,939,150...18,952,008
Ensembl chr12:18,914,398...18,952,008
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Tsga13
testis specific, 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,501,773...59,522,925
Ensembl chr 4:59,501,774...59,522,818
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Tspan12
tetraspanin 12
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:51,279,562...51,355,030
Ensembl chr 4:50,313,772...50,389,246
G
Tspan13
tetraspanin 13
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:52,738,748...52,765,503
Ensembl chr 6:52,738,758...52,765,547
G
Tspan33
tetraspanin 33
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,270,713...59,294,249
Ensembl chr 4:58,305,437...58,328,940
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Twist1
twist family bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:56,402,309...56,404,303
Ensembl chr 6:50,674,678...50,677,653
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Tyw1
tRNA-yW synthesizing protein 1 homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,332,020...26,418,286
Ensembl chr12:26,330,351...26,418,208
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Ube2d2b
ubiquitin-conjugating enzyme E2D 2B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:2,060,926...2,062,400
Ensembl chr14:1,916,845...1,917,416
G
Ube2h
ubiquitin-conjugating enzyme E2H
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,802,102...59,897,583
Ensembl chr 4:58,834,674...58,930,156
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Ubn2
ubinuclein 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,165,278...67,251,562
Ensembl chr 4:67,166,346...67,230,491
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Ufsp1
UFM1-specific peptidase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,406,133...19,407,147
Ensembl chr12:19,406,142...19,407,195
G
Upk3bl1
uroplakin 3B like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:20,610,353...20,616,366
Ensembl chr12:20,610,353...20,616,366
G
Upp1
uridine phosphorylase 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:88,023,155...88,043,036
Ensembl chr14:83,809,960...83,829,462
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Urgcp
upregulator of cell proliferation
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:80,594,637...80,638,972
Ensembl chr14:80,594,633...80,619,888
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Vgf
VGF nerve growth factor inducible
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:25,274,004...25,281,803
Ensembl chr12:19,637,320...19,640,341
G
Vkorc1l1
vitamin K epoxide reductase complex, subunit 1-like 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:32,354,078...32,404,327
Ensembl chr12:26,623,976...26,768,225
G
Vopp1
VOPP1 WW domain binding protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:88,692,784...88,762,903
Ensembl chr 4:87,363,477...87,450,375
G
Vps37d
VPS37D subunit of ESCRT-I
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:27,245,755...27,251,214
Ensembl chr12:21,609,182...21,614,659
G
Vps41
VPS41 subunit of HOPS complex
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:50,758,732...50,923,129
Ensembl chr17:46,063,124...46,227,791
G
Vps50
VPS50 subunit of EARP/GARPII complex
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:31,484,424...31,585,617
Ensembl chr 4:31,484,463...31,585,617
G
Vstm2a
V-set and transmembrane domain containing 2A
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:94,873,259...95,117,189
Ensembl chr14:90,660,004...90,685,656
G
Vwc2
von Willebrand factor C domain containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:89,897,543...90,038,732
Ensembl chr14:85,684,414...85,818,524
G
Vwde
von Willebrand factor D and EGF domains
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:41,453,573...41,525,421
Ensembl chr 4:41,455,281...41,533,374
G
Wasl
WASP like actin nucleation promoting factor
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:54,049,081...54,097,653
Ensembl chr 4:53,083,536...53,132,022
G
Wdr91
WD repeat domain 91
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:64,521,504...64,558,873
Ensembl chr 4:63,554,364...63,591,733
G
Wipf3
WAS/WASL interacting protein family, member 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:83,550,075...83,629,929
Ensembl chr 4:83,550,468...83,629,386
G
Wnt16
Wnt family member 16
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:50,820,968...50,831,380
Ensembl chr 4:50,820,968...50,831,380
G
Wnt2
Wnt family member 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:47,294,300...47,340,284
Ensembl chr 4:46,333,998...46,374,402
G
Yae1
YAE1 maturation factor of ABCE1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr17:47,027,033...47,033,549
Ensembl chr17:47,027,019...47,033,546
G
Ykt6
YKT6 v-SNARE homolog
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:85,041,393...85,057,347
Ensembl chr14:80,832,187...80,843,385
G
Ywhag
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,381,106...26,409,466
Ensembl chr12:20,744,535...20,772,827
G
Zan
zonadhesin
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:19,215,018...19,322,789
Ensembl chr12:19,215,102...19,271,240
G
Zc3hav1
zinc finger CCCH-type containing, antiviral 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:67,979,055...68,029,353
Ensembl chr 4:67,012,185...67,062,428
G
Zc3hav1l
ZC3HAV1 like
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:66,994,192...67,003,207
Ensembl chr 4:66,994,199...67,001,620
G
Zc3hc1
zinc finger, C3HC-type containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:59,957,402...59,979,336
Ensembl chr 4:58,989,987...59,011,933
G
Zcwpw1
zinc finger CW-type and PWWP domain containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:24,517,428...24,547,942
Ensembl chr12:18,880,633...18,910,711
G
Zfp113
zinc finger protein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,135,812...22,147,427
Ensembl chr12:17,022,279...17,033,709
G
Zfp277
zinc finger protein 277
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 6:63,110,609...63,239,941
Ensembl chr 6:57,383,951...57,512,765
G
Zfp394
zinc finger protein 394
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,409,047...9,417,228
Ensembl chr12:9,409,078...9,417,246
G
Zfp655
zinc finger protein 655
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:9,349,985...9,375,449
Ensembl chr12:9,357,639...9,374,569
G
Zfp800
zinc finger protein 800
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:56,798,326...56,849,766
Ensembl chr 4:56,826,997...56,849,791
G
Zfp804b
zinc finger protein 804B
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:26,608,510...27,144,717
Ensembl chr 4:26,609,744...27,141,673
G
Zkscan1
zinc finger with KRAB and SCAN domains 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:16,966,287...16,987,680
Ensembl chr12:16,966,654...16,983,865
G
Zkscan5
zinc finger with KRAB and SCAN domains 5
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:14,498,342...14,519,537
Ensembl chr12:9,384,571...9,405,881
G
Zmiz2
zinc finger, MIZ-type containing 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:85,465,323...85,481,860
Ensembl chr14:81,251,417...81,267,936
G
Znhit1
zinc finger, HIT-type containing 1
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:25,323,292...25,329,566
Ensembl chr12:19,686,148...19,692,880
G
Znrf2
zinc and ring finger 2
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr 4:85,274,626...85,358,083
Ensembl chr 4:83,949,309...84,027,818
G
Zp3
zona pellucida glycoprotein 3
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:26,327,161...26,334,126
Ensembl chr12:20,690,547...20,697,513
G
Zpbp
zona pellucida binding protein
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr14:85,830,971...86,030,778
Ensembl chr14:85,833,548...86,033,095
G
Zscan21
zinc finger and SCAN domain containing 21
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:22,112,204...22,142,506
Ensembl chr12:16,998,538...17,013,506
G
Zscan25
zinc finger and SCAN domain containing 25
ISO
ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma
ClinVar
PMID:28299358
NCBI chr12:14,441,458...14,451,919
Ensembl chr12:9,326,404...9,338,221
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Bmp4
bone morphogenetic protein 4
IEP ISO
protein:increased expression:pituitary gland CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:16809920 PMID:12552124
RGD:629544
NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306
G
Cebpd
CCAAT/enhancer binding protein delta
ISO IEP
CTD Direct Evidence: marker/mechanism protein:decreased expression:pituitary gland
CTD RGD
PMID:21980073 PMID:21980073
RGD:7241005
NCBI chr11:98,268,856...98,269,994
Ensembl chr11:84,764,565...84,765,829
G
Hpgd
15-hydroxyprostaglandin dehydrogenase
ISO
mRNA:decreased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr16:38,996,876...39,034,831
Ensembl chr16:33,986,266...34,024,228
G
Lrp2
LDL receptor related protein 2
ISO
ClinVar Annotator: match by term: Prolactinoma
ClinVar
PMID:17632512 PMID:25682901 PMID:25741868 PMID:28492532
NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:54,189,308...54,346,708
G
Men1
menin 1
ISS
OMIM:600634
MouseDO
NCBI chr 1:213,068,166...213,074,132
Ensembl chr 1:203,639,000...203,644,871
G
Myc
MYC proto-oncogene, bHLH transcription factor
IEP
mRNA:increased expression:pituitary gland (rat) protein:increased expression:pituitary gland
RGD
PMID:22635680 PMID:21980073
RGD:7240531 , RGD:7241005
NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:93,593,705...93,598,630
G
Nog
noggin
ISO
mRNA, protein:decreased expression:pituitary
RGD
PMID:12552124
RGD:629544
NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,128,712...74,130,339
G
Npy5r
neuropeptide Y receptor Y5
IEP
protein:increased expression:pars anterior
RGD
PMID:11026575
RGD:1625506
NCBI chr16:27,822,055...27,830,012
Ensembl chr16:23,055,427...23,063,382
G
Prl
prolactin
sexual_dimorphism
IEP ISO IAGP
mRNA:increased expression:pituitary gland protein:increased expression:blood serum (human) CTD Direct Evidence: marker/mechanism DNA:mutation
CTD RGD
PMID:718334 PMID:1407345 PMID:3776530 PMID:9617019 PMID:17260475 PMID:16029648 PMID:12124824 PMID:17260475 More...
RGD:1642576 , RGD:401976454 , RGD:401960111 , RGD:1642576
NCBI chr17:38,287,355...38,298,234
Ensembl chr17:37,860,007...37,870,062
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Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
mRNA:increased expression:pituitary gland
RGD
PMID:22580984
RGD:11667097
NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
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Bmpr2
bone morphogenetic protein receptor type 2
ISO
ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
ClinVar
PMID:18626305 PMID:24292273
NCBI chr 9:68,685,942...68,801,353
Ensembl chr 9:61,190,566...61,301,809
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Eif2ak4
eukaryotic translation initiation factor 2 alpha kinase 4
ISO
ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis
OMIM ClinVar
PMID:12215525 PMID:24033266 PMID:24135949 PMID:24292273 PMID:24310610 PMID:25512148 PMID:25741868 PMID:27684876 PMID:28492532 PMID:28972005 PMID:29631995 PMID:29743074 PMID:30285736 PMID:30679663 PMID:31711431 PMID:32581362 PMID:36451176 More...
NCBI chr 3:125,810,207...125,895,574
Ensembl chr 3:105,356,261...105,441,630
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Apc
APC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8071957 PMID:11766074
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Cdkn1b
cyclin-dependent kinase inhibitor 1B
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15525823
NCBI chr 4:169,491,273...169,496,500
Ensembl chr 4:167,760,181...167,764,982
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Egfr
epidermal growth factor receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16839708
NCBI chr14:95,378,626...95,551,358
Ensembl chr14:91,177,067...91,344,382
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
RGD
PMID:21975339
RGD:13210759
NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:105,121,170...105,124,036
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Mapk8
mitogen-activated protein kinase 8
ISO
DNA:SNP: :rs10508901 (human) DNA:SNP: :rs10857561 (human)
RGD
PMID:22199996 PMID:23027623
RGD:13217410 , RGD:13217411
NCBI chr16:8,645,171...8,728,225
Ensembl chr16:8,638,924...8,721,981
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Mcc
MCC regulator of WNT signaling pathway
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8071957
NCBI chr18:36,794,206...37,266,237
Ensembl chr18:36,798,372...37,266,819
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Mthfr
methylenetetrahydrofolate reductase
severity
ISO
DNA:transition:cds:g.677C>T (human)
RGD
PMID:21865946
RGD:6893664
NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797
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Muc2
mucin 2, oligomeric mucus/gel-forming
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12468628
NCBI chr 1:206,225,775...206,261,280
Ensembl chr 1:196,799,517...196,831,756
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Nras
NRAS proto-oncogene, GTPase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:3102434
NCBI chr 2:193,271,399...193,282,023
Ensembl chr 2:190,582,918...190,591,626
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
susceptibility
ISO
DNA:SNP:intron: (rs7651265) (human)
RGD
PMID:20622004
RGD:5685669
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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Pik3cb
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
disease_progression
ISO
RGD
PMID:25473181
RGD:13432031
NCBI chr 8:108,474,017...108,579,140
Ensembl chr 8:99,594,644...99,699,663
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Pmepa1
prostate transmembrane protein, androgen induced 1
ISO
mRNA:increased expression:rectum
RGD
PMID:11568975
RGD:2315108
NCBI chr 3:182,430,193...182,478,649
Ensembl chr 3:162,012,751...162,060,454
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Tyms
thymidylate synthetase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16931962
NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:113,313,452...113,329,536
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Wrap53
WD repeat containing, antisense to TP53
treatment
ISO
RGD
PMID:22805008
RGD:21081677
NCBI chr10:54,780,873...54,797,919
Ensembl chr10:54,282,105...54,298,929
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Atp7b
ATPase copper transporting beta
IAGP
RGD
PMID:11509115
RGD:1302456
NCBI chr16:76,654,725...76,726,092
Ensembl chr16:69,951,778...70,023,636
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Atp7bhts
ATPase copper transporting beta; hepatitis
IAGP
RGD
PMID:11509115
RGD:1302456
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Flcn
folliculin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:12204536
NCBI chr10:45,088,164...45,107,581
Ensembl chr10:44,588,624...44,607,769
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Pomc
proopiomelanocortin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10908253
NCBI chr 6:32,659,137...32,665,175
Ensembl chr 6:26,939,837...26,945,664
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Alk
ALK receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
NCBI chr 6:28,631,431...29,351,321
Ensembl chr 6:22,880,625...23,598,034
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Angpt2
angiopoietin 2
IEP
protein:increased expression:blood vessel (rat)
RGD
PMID:17849463
RGD:2314204
NCBI chr16:77,790,760...77,841,241
Ensembl chr16:71,088,364...71,138,804
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Brca1
BRCA1, DNA repair associated
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:12920083 PMID:16287141 PMID:19370767 PMID:20104584 PMID:21232165 PMID:22923021 PMID:23397983 PMID:23635950 PMID:25741868 PMID:25940717 PMID:26295337 PMID:26306726 PMID:26467025 PMID:26852130 PMID:28492532 PMID:28740454 PMID:30940100 PMID:32772980 More...
NCBI chr10:86,917,693...86,978,012
Ensembl chr10:86,418,000...86,477,304
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Brca2
BRCA2, DNA repair associated
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:8589730 PMID:8988179 PMID:10188893 PMID:10790213 PMID:11802209 PMID:11897832 PMID:11920621 PMID:12442265 PMID:12569143 PMID:12774040 PMID:15024741 PMID:15645491 PMID:15800615 PMID:16234499 PMID:16683254 PMID:16912212 PMID:17574839 PMID:17688236 PMID:18465347 PMID:18489799 PMID:19016756 PMID:19563646 PMID:19620486 PMID:20104584 PMID:21318380 PMID:21324516 PMID:21465317 PMID:21520333 PMID:21643751 PMID:21702907 PMID:21719596 PMID:21952622 PMID:22006311 PMID:22752604 PMID:22762150 PMID:22798144 PMID:23199084 PMID:23479189 PMID:23531862 PMID:24156927 PMID:24249303 PMID:24259538 PMID:24333842 PMID:24504028 PMID:24528374 PMID:24578176 PMID:24728189 PMID:24814045 PMID:25186627 PMID:25525159 PMID:25741868 PMID:25863477 PMID:26187060 PMID:26221963 PMID:26287763 PMID:26295337 PMID:26296701 PMID:26306726 PMID:26360800 PMID:26467025 PMID:26681312 PMID:26689913 PMID:26787237 PMID:27062684 PMID:27153395 PMID:27157322 PMID:27836010 PMID:28176296 PMID:28324225 PMID:28492532 PMID:28724667 PMID:28831036 PMID:28993434 PMID:29084914 PMID:29321669 PMID:29325860 PMID:29339979 PMID:29348823 PMID:29368341 PMID:29446198 PMID:29489754 PMID:29506128 PMID:29625052 PMID:29752822 PMID:29758562 PMID:29907814 PMID:30040829 PMID:30274973 PMID:30287823 PMID:30309222 PMID:30309722 PMID:30322717 PMID:30548481 PMID:30612635 PMID:30702160 PMID:30720243 PMID:30720863 PMID:30787465 PMID:31214711 PMID:31263571 PMID:31360904 PMID:31446535 PMID:31447099 PMID:31589614 PMID:31825140 PMID:32164353 PMID:32255556 PMID:32295079 PMID:32318955 PMID:32338768 PMID:32341426 PMID:32438681 PMID:32719484 PMID:32778078 PMID:32782288 PMID:32824581 PMID:32853339 PMID:32885271 PMID:32923906 PMID:33087929 PMID:33372952 PMID:33471991 PMID:33599307 PMID:33670479 PMID:33801055 PMID:34022715 PMID:34072659 PMID:34399810 PMID:34657373 PMID:34680387 PMID:34687993 PMID:35205366 PMID:36292577 PMID:36721989 PMID:36988593 More...
NCBI chr12:4,895,092...4,939,340
Ensembl chr12:59,819...100,567
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Cad
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
IEP
RGD
PMID:7053379
RGD:10755426
NCBI chr 6:31,012,091...31,035,098
Ensembl chr 6:25,292,133...25,319,861
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Cbl
Cbl proto-oncogene
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:17446348 PMID:19387008 PMID:19620960 PMID:19901108 PMID:20619386 PMID:20619389 PMID:20694012 PMID:20951944 PMID:21828135 PMID:22190897 PMID:22246246 PMID:22733026 PMID:23010802 PMID:23690417 PMID:25178484 PMID:25224413 PMID:25741868 PMID:25952305 PMID:27069254 PMID:28492532 PMID:29296819 PMID:33318624 PMID:33627783 More...
NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176
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Cdkn2a
cyclin-dependent kinase inhibitor 2A
IDA
DNA, mRNA:hypermethylation, decreased expression:promoter, skeletal muscle
RGD
PMID:21565688
RGD:8552662
NCBI chr 5:109,100,763...109,114,448
Ensembl chr 5:103,984,949...104,003,149
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Cnr1
cannabinoid receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19509271
NCBI chr 5:53,204,867...53,230,396
Ensembl chr 5:48,408,574...48,435,099
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Dicer1
dicer 1 ribonuclease III
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:19556464 PMID:21266384 PMID:24839956 PMID:25741868 PMID:26925222 PMID:28492532 PMID:28624956 PMID:28862265 PMID:30266945 PMID:33372952 More...
NCBI chr 6:129,392,298...129,457,252
Ensembl chr 6:123,631,250...123,693,965
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22683711 PMID:23093928 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25741868 PMID:25914166 PMID:26467025 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
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Igf2
insulin-like growth factor 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7981680
NCBI chr 1:207,243,873...207,261,263
Ensembl chr 1:197,814,410...197,823,018
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 PMID:16443854 PMID:16835863 PMID:16881968 PMID:16969868 PMID:17054105 PMID:17412879 PMID:17601930 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18247425 PMID:18978862 PMID:19206176 PMID:19371735 PMID:19669404 PMID:20301680 PMID:20660566 PMID:20979192 PMID:21686750 PMID:21834037 PMID:21850009 PMID:22087699 PMID:22317973 PMID:22420426 PMID:22495892 PMID:22683711 PMID:23093928 PMID:23751039 PMID:24033266 PMID:24129065 PMID:24169525 PMID:24224811 PMID:24803665 PMID:25741868 PMID:25914166 PMID:26467025 PMID:27195699 PMID:27589201 PMID:28027064 PMID:28139825 PMID:28492532 PMID:29493581 PMID:31222966 PMID:31775759 PMID:33372952 PMID:34008892 More...
NCBI chr 1:205,729,402...205,744,754
Ensembl chr 1:196,299,846...196,315,172
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Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:8592341 PMID:10080150 PMID:10323887 PMID:10375096 PMID:11151427 PMID:15849733 PMID:15872200 PMID:16216036 PMID:16736289 PMID:16996571 PMID:18270343 PMID:19731080 PMID:21642682 PMID:22034109 PMID:23990280 PMID:24344984 PMID:24362816 PMID:24549055 PMID:24851142 PMID:25117503 PMID:25194673 PMID:25430799 PMID:25525159 PMID:25741868 PMID:26467025 PMID:27601186 PMID:28492532 PMID:28874130 PMID:30521064 PMID:31054147 PMID:31615790 PMID:33359728 PMID:33484353 PMID:36593122 More...
NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938
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Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:21520333 PMID:25741868 PMID:26467025 PMID:28153049 PMID:28492532 PMID:29750335 PMID:29755653 PMID:30128536 PMID:31100584 PMID:31965077 PMID:33467402 More...
NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:1511985 PMID:7655472 PMID:8069310 PMID:8099055 PMID:8302341 PMID:9180088 PMID:9536098 PMID:9783703 PMID:10090487 PMID:10543400 PMID:10607834 PMID:10678181 PMID:10712197 PMID:10862084 PMID:10980545 PMID:11258625 PMID:11857752 PMID:12112660 PMID:12566521 PMID:12746402 PMID:12807981 PMID:16690971 PMID:16937374 PMID:16944272 PMID:16961930 PMID:17426081 PMID:17576681 PMID:17668375 PMID:18041031 PMID:18484666 PMID:18546366 PMID:19076627 PMID:19221814 PMID:19292874 PMID:19738042 PMID:20015894 PMID:20301288 PMID:21354044 PMID:22155606 PMID:22190595 PMID:23222849 PMID:23404336 PMID:23460398 PMID:23668869 PMID:23758643 PMID:23913538 PMID:24033266 PMID:24789688 PMID:24932921 PMID:25324867 PMID:25325900 PMID:25741868 PMID:26056819 PMID:26467025 PMID:26478990 PMID:26740943 PMID:26908603 PMID:26969325 PMID:26973730 PMID:27069254 PMID:27074763 PMID:27171602 PMID:27322474 PMID:27482814 PMID:27838393 PMID:28422438 PMID:28492532 PMID:29522274 PMID:29673180 PMID:29872168 PMID:29914388 PMID:30014477 PMID:31533797 PMID:31717729 PMID:31776437 PMID:32107864 PMID:32860008 PMID:33372952 PMID:34080803 PMID:34427956 PMID:34694046 More...
NCBI chr10:64,803,986...65,037,086
Ensembl chr10:64,306,301...64,536,658
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Pms2
PMS1 homolog 2, mismatch repair system component
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rhabdomyosarcoma
CTD ClinVar
PMID:2440087 PMID:7629132 PMID:9756907 PMID:10037723 PMID:15077197 PMID:16507833 PMID:18602922 PMID:18824584 PMID:19092773 PMID:19293170 PMID:20205264 PMID:20581245 PMID:21356188 PMID:21618646 PMID:23012243 PMID:25512458 PMID:25525159 PMID:25691505 PMID:25741868 PMID:26110232 PMID:26895986 PMID:27435373 PMID:28492532 PMID:28805995 PMID:31433215 PMID:32773772 PMID:32876971 PMID:34048176 PMID:34897210 More...
NCBI chr12:15,790,478...15,814,790
Ensembl chr12:10,676,764...10,701,066
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Ptch1
patched 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Rhabdomyosarcoma
CTD ClinVar RGD
PMID:19155313 PMID:33372952 PMID:19321799
RGD:150523834
NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:9259288 PMID:9467011 PMID:9856571 PMID:10848731 PMID:10923032 PMID:11332402 PMID:11918710 PMID:16773562 PMID:17286265 PMID:20301661 PMID:21194675 PMID:21956414 PMID:22266152 PMID:22381246 PMID:23335809 PMID:23470840 PMID:23764071 PMID:23934601 PMID:24033266 PMID:24345843 PMID:25741868 PMID:26467025 PMID:28492532 PMID:28526761 PMID:28655553 PMID:29594054 PMID:30614812 PMID:30659124 PMID:33083010 PMID:33372952 PMID:36988593 More...
NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838
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Ptma
prothymosin alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16669873
NCBI chr 9:94,624,194...94,628,276
Ensembl chr 9:87,176,230...87,180,333
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Sdha
succinate dehydrogenase complex flavoprotein subunit A
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:10746566 PMID:15989954 PMID:20484225 PMID:21505157 PMID:21752896 PMID:21858060 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25488574 PMID:25494863 PMID:25525159 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26467025 PMID:26490314 PMID:26689913 PMID:26722403 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29177515 PMID:29625052 PMID:29872718 PMID:29978154 PMID:29978187 PMID:30068732 PMID:30877234 PMID:31368675 PMID:31589614 PMID:31827275 PMID:32581362 PMID:32782288 PMID:32971818 PMID:33077847 PMID:33372952 PMID:33674644 PMID:33960148 PMID:35059314 PMID:35441217 More...
NCBI chr 1:30,764,553...30,789,523
Ensembl chr 1:28,940,164...28,961,535
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Sdhc
succinate dehydrogenase complex subunit C
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:23083876 PMID:24423348 PMID:24758179 PMID:25741868 PMID:27700540 PMID:28492532 PMID:33372952 More...
NCBI chr13:86,077,133...86,098,025
Ensembl chr13:83,544,652...83,566,253
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Slc22a18
solute carrier family 22, member 18
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma, somatic
ClinVar
PMID:9520460
NCBI chr 1:208,100,032...208,124,382
Ensembl chr 1:198,671,731...198,694,975
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Timm10
translocase of inner mitochondrial membrane 10
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16669873
NCBI chr 3:90,315,048...90,318,613
Ensembl chr 3:69,908,456...69,911,940
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Tp53
tumor protein p53
ISO
ClinVar Annotator: match by term: Rhabdomyosarcoma
ClinVar
PMID:1467311 PMID:1565143 PMID:1565144 PMID:1631137 PMID:1673792 PMID:1683921 PMID:1686725 PMID:1978757 PMID:2046748 PMID:2750177 PMID:7706467 PMID:7732013 PMID:7881428 PMID:7887414 PMID:8023157 PMID:8062826 PMID:8118819 PMID:8364550 PMID:8423216 PMID:8633021 PMID:9067756 PMID:9242456 PMID:9285560 PMID:9399838 PMID:9446663 PMID:9470817 PMID:9536098 PMID:9546439 PMID:9681828 PMID:9704930 PMID:10229196 PMID:10411893 PMID:10432928 PMID:10486318 PMID:10519384 PMID:10713666 PMID:10753186 PMID:10797439 PMID:10864200 PMID:11139324 PMID:11152481 PMID:11180592 PMID:11420676 PMID:11479205 PMID:11782540 PMID:11896595 PMID:11920959 PMID:12610779 PMID:12672316 PMID:12826609 PMID:14743206 PMID:15381368 PMID:15390294 PMID:15580553 PMID:15607980 PMID:15607981 PMID:15722483 PMID:15951970 PMID:16199547 PMID:16401470 PMID:16489069 PMID:16494995 PMID:16682957 PMID:16818505 PMID:16861262 PMID:17308077 PMID:17311302 PMID:17318340 PMID:17540308 PMID:17576681 PMID:17606709 PMID:17636407 PMID:18511570 PMID:18628487 PMID:18685109 PMID:19367569 PMID:19454241 PMID:19556618 PMID:20113312 PMID:20127978 PMID:20128691 PMID:20407015 PMID:20455025 PMID:20516128 PMID:20522432 PMID:20693561 PMID:21187651 PMID:21232794 PMID:21305319 PMID:21343334 PMID:21348412 PMID:21445056 PMID:21464421 PMID:21483000 PMID:21484931 PMID:21519010 PMID:21552135 PMID:21601526 PMID:21665242 PMID:21761402 PMID:22110706 PMID:22170717 PMID:22186996 PMID:22319594 PMID:22811390 PMID:22915647 PMID:23161690 PMID:23175693 PMID:23246812 PMID:23259501 PMID:23538418 PMID:23625637 PMID:23639312 PMID:23894400 PMID:24033266 PMID:24307375 PMID:24382691 PMID:24501221 PMID:24549055 PMID:24590827 PMID:24651012 PMID:24677579 PMID:24728327 PMID:24764719 PMID:24810334 PMID:25326637 PMID:25503501 PMID:25525159 PMID:25584008 PMID:25612911 PMID:25637381 PMID:25741868 PMID:25773284 PMID:25787918 PMID:25896519 PMID:25925845 PMID:25945745 PMID:25952993 PMID:26014290 PMID:26086041 PMID:26206375 PMID:26230955 PMID:26332594 PMID:26467025 PMID:26585234 PMID:26628864 PMID:26681312 PMID:26681682 PMID:26818906 PMID:26822237 PMID:26845104 PMID:27276561 PMID:27328919 PMID:27374712 PMID:27463065 PMID:27501770 PMID:27680515 PMID:27683180 PMID:27895058 PMID:27959731 PMID:27993330 PMID:28152038 PMID:28154273 PMID:28349240 PMID:28369373 PMID:28453743 PMID:28472496 PMID:28492532 PMID:28573494 PMID:28861920 PMID:28873162 PMID:29324801 PMID:29470806 PMID:29478780 PMID:29489754 PMID:29752822 PMID:29979965 PMID:30076369 PMID:30092803 PMID:30107858 PMID:30224644 PMID:30262806 PMID:30287823 PMID:30327374 PMID:30352134 PMID:30630526 PMID:30816478 PMID:31016814 PMID:31081129 PMID:31105275 PMID:31775759 PMID:31882575 PMID:32000721 PMID:32295079 PMID:32427313 PMID:32906206 PMID:33300245 PMID:33372952 PMID:33471991 PMID:34540492 PMID:36988593 More...
NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524
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Vegfa
vascular endothelial growth factor A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16116481
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Fgfr1
Fibroblast growth factor receptor 1
ISO
ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor
ClinVar
PMID:10766980 PMID:23819449 PMID:25741868 PMID:26822237 PMID:26942290 PMID:27626068 More...
NCBI chr16:73,194,631...73,249,855
Ensembl chr16:66,494,042...66,547,350
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor
ClinVar
PMID:15016963 PMID:15520168 PMID:15608678 PMID:17673550 PMID:20593314 PMID:22370636 PMID:22658544 PMID:22729222 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24782230 PMID:25741868 PMID:26266975 PMID:26266985 PMID:26627007 PMID:26822237 PMID:27126994 PMID:27626068 PMID:29988677 PMID:31536475 PMID:31775759 PMID:34008892 PMID:34496175 PMID:39825153 More...
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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Rnf216
ring finger protein 216
ISO
ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor
ClinVar
PMID:26822237 PMID:27626068
NCBI chr12:16,568,327...16,689,868
Ensembl chr12:11,454,797...11,576,304
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Wnt10a
Wnt family member 10A
ISO
ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 PMID:20979233 PMID:21143469 PMID:21279306 PMID:21484994 PMID:21834823 PMID:22581971 PMID:22670871 PMID:23167694 PMID:23401279 PMID:23991204 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24398796 PMID:24449199 PMID:24458874 PMID:24700731 PMID:24702986 PMID:24902757 PMID:25356970 PMID:25545742 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26087098 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:28981473 PMID:29178643 PMID:29271000 PMID:29364747 PMID:29431110 PMID:30046887 PMID:30426266 PMID:30526585 PMID:30569517 PMID:30974434 PMID:31103801 PMID:33034246 PMID:34228861 PMID:35537890 PMID:35999385 PMID:36071541 PMID:36250548 PMID:36294409 PMID:36515421 More...
NCBI chr 9:83,798,594...83,811,060
Ensembl chr 9:76,349,931...76,362,400
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Lztr1
leucine zipper like post translational regulator 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Schwannomatosis DNA, protein:multiple, multiple:multiple, blood (human) DNA:multiple:multiple (human)
CTD ClinVar RGD
PMID:16199547 PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 PMID:27921248 PMID:28295212 PMID:28492532 PMID:29384852 PMID:29409008 PMID:29469822 PMID:30006736 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30665374 PMID:30859559 PMID:31128261 PMID:31130284 PMID:31182298 PMID:31219622 PMID:31438995 PMID:32371905 PMID:33084842 PMID:33413596 PMID:35251316 PMID:35391499 PMID:36947458 PMID:25480913 PMID:28365909 PMID:29409008 More...
RGD:151708709 , RGD:151708708 , RGD:151708704
NCBI chr11:96,991,956...97,008,127
Ensembl chr11:83,487,717...83,503,633
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Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Neurilemmomatosis congenital cutaneous | ClinVar Annotator: match by term: Schwannomatosis DNA:missense mutation, loss of heterozygosity:cds: c.143C>T (human) DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human) DNA:multiple:multiple (human)
CTD ClinVar RGD
PMID:10521299 PMID:18647326 PMID:21208904 PMID:22434358 PMID:22949514 PMID:24362817 PMID:25741868 PMID:26073604 PMID:28492532 PMID:22038540 PMID:28365909 PMID:29409008 More...
RGD:155804288 , RGD:151708708 , RGD:151708704
NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO
ClinVar Annotator: match by term: SMARCB1-related schwannomatosis
ClinVar
PMID:7798645 PMID:8882871 PMID:9399891 PMID:9643284 PMID:16199547 PMID:16983642 PMID:18406647 PMID:21563229 PMID:25741868 PMID:28492532 PMID:34273915 More...
NCBI chr14:83,850,894...83,934,263
Ensembl chr14:79,627,399...79,710,667
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Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
ClinVar Annotator: match by term: SMARCB1-related schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 1, somatic
ClinVar OMIM
PMID:10521299 PMID:17357086 PMID:18285426 PMID:18414213 PMID:18647326 PMID:19124645 PMID:19582488 PMID:20930055 PMID:21208904 PMID:21255467 PMID:22038540 PMID:22434358 PMID:22949514 PMID:24362817 PMID:24728327 PMID:24740647 PMID:24933152 PMID:25631985 PMID:25741868 PMID:26073604 PMID:28492532 PMID:29409008 PMID:29517885 PMID:34747535 More...
NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620
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Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: LZTR1-related schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 2 | ClinVar Annotator: match by term: Schwannomatosis-2, susceptibility to
ClinVar OMIM
PMID:9536098 PMID:16199547 PMID:16356934 PMID:17576681 PMID:23917401 PMID:23999291 PMID:24033266 PMID:24362817 PMID:24448499 PMID:25008767 PMID:25049390 PMID:25303977 PMID:25335493 PMID:25480913 PMID:25741868 PMID:25795793 PMID:26260516 PMID:26467025 PMID:26803811 PMID:27921248 PMID:28017249 PMID:28135719 PMID:28191889 PMID:28295212 PMID:28492532 PMID:28749478 PMID:29146900 PMID:29384852 PMID:29409008 PMID:29469822 PMID:29493581 PMID:29970176 PMID:30006736 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30504930 PMID:30564305 PMID:30664951 PMID:30665374 PMID:30732632 PMID:30859559 PMID:31044557 PMID:31128261 PMID:31130284 PMID:31182298 PMID:31219622 PMID:31370276 PMID:31438995 PMID:31475041 PMID:31825158 PMID:31883238 PMID:31911633 PMID:32004086 PMID:32041611 PMID:32371905 PMID:32575496 PMID:32623905 PMID:32981126 PMID:33057194 PMID:33084842 PMID:33128510 PMID:33258288 PMID:33407364 PMID:33413596 PMID:33587123 PMID:33792302 PMID:33897756 PMID:34113392 PMID:34184824 PMID:34401172 PMID:34645488 PMID:35131284 PMID:35251316 PMID:35253369 PMID:35258168 PMID:35352813 PMID:35391499 PMID:35418823 PMID:35638454 PMID:35726512 PMID:35806449 PMID:35840934 PMID:35979676 PMID:35982159 PMID:36113475 PMID:36252119 PMID:36307859 PMID:36360262 PMID:36445254 PMID:36947458 PMID:37600658 PMID:37936555 PMID:38654924 More...
NCBI chr11:96,991,956...97,008,127
Ensembl chr11:83,487,717...83,503,633
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Cdkn1a
cyclin-dependent kinase inhibitor 1A
ISO
RGD
PMID:12354803
RGD:8662839
NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585
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Lef1
lymphoid enhancer binding factor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16565724
NCBI chr 2:222,340,541...222,453,931
Ensembl chr 2:219,666,592...219,779,794
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Anxa1
annexin A1
ISO
RGD
PMID:8919037
RGD:7421562
NCBI chr 1:227,287,713...227,306,739
Ensembl chr 1:217,861,175...217,877,343
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Fgfr3
fibroblast growth factor receptor 3
ISO
ClinVar Annotator: match by term: Keratosis Seborrheica
ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8640234 PMID:8858131 PMID:9438390 PMID:9677066 PMID:10073901 PMID:10471491 PMID:10696568 PMID:11038465 PMID:11241532 PMID:11529856 PMID:11879084 PMID:12833394 PMID:15772091 PMID:16501574 PMID:16841094 PMID:17384684 PMID:18000976 PMID:18642369 PMID:19749790 PMID:20301540 PMID:20420824 PMID:22045636 PMID:24864036 PMID:25606676 PMID:25614871 PMID:25741868 PMID:26740388 PMID:28492532 PMID:29593476 PMID:31299979 PMID:36135330 PMID:36474027 More...
NCBI chr14:81,211,800...81,227,215
Ensembl chr14:76,987,993...77,003,341
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Pik3ca
phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
ISO
ClinVar Annotator: match by term: Keratosis Seborrheica | ClinVar Annotator: match by term: Seborrheic keratosis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:15016963 PMID:15520168 PMID:15608678 PMID:15930273 PMID:17376864 PMID:17673550 PMID:20593314 PMID:21078999 PMID:22370636 PMID:22658544 PMID:22729222 PMID:22729223 PMID:22729224 PMID:23066039 PMID:23100325 PMID:23946963 PMID:24033266 PMID:24782230 PMID:25599672 PMID:25741868 PMID:25880439 PMID:26266975 PMID:26266985 PMID:26627007 PMID:26637981 PMID:26822237 PMID:27126994 PMID:27626068 PMID:27631024 PMID:28151489 PMID:28425981 PMID:28492532 PMID:29661094 PMID:29988677 PMID:30376034 PMID:30543347 PMID:31536475 PMID:31775759 PMID:33054853 PMID:34008892 PMID:34496175 PMID:35483878 PMID:37667289 PMID:37712948 PMID:39825153 More...
NCBI chr 2:117,103,643...117,177,411
Ensembl chr 2:115,174,984...115,249,032
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Apc
APC regulator of WNT signaling pathway
ISO
ClinVar Annotator: match by term: Sigmoid colon cancer
ClinVar
PMID:25741868 PMID:28492532
NCBI chr18:26,138,382...26,196,021
Ensembl chr18:25,864,222...25,922,696
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Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Sigmoid colon cancer
ClinVar
PMID:10495924 PMID:12658575 PMID:15849733 PMID:17312306 PMID:18566915 PMID:20215533 PMID:23741719 PMID:24323032 PMID:24362816 PMID:25117503 PMID:25648859 PMID:25741868 PMID:26177554 PMID:26659639 PMID:27013479 PMID:27601186 PMID:28492532 PMID:28790115 PMID:31162827 PMID:33977078 PMID:34680242 More...
NCBI chr 6:12,567,368...12,626,534
Ensembl chr 6:6,813,795...6,872,938
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Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Sigmoid colon cancer
ClinVar
PMID:9354786 PMID:12376507 PMID:18809606 PMID:19924528 PMID:20176959 PMID:22283331 PMID:24710284 PMID:24728327 PMID:25536104 PMID:25741868 PMID:26046366 PMID:26467025 PMID:28492532 More...
NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:6,562,632...6,579,956
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Mir222
microRNA 222
IEP
RNA:increased expression: triceps surae muscle
RGD
PMID:23447020
RGD:151893488
NCBI chr X:6,022,621...6,022,723
Ensembl chr X:3,428,904...3,429,006
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Hras
HRas proto-oncogene, GTPase
ISO
associated with Nevus, Sebaceous of Jadassohn;DNA:mutation:cds:c.37G>C(p.G13R)(human)
RGD
PMID:22683711
RGD:11098548
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
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Gja4
gap junction protein, alpha 4
ISO
ClinVar Annotator: match by term: Skin hemangioma
ClinVar
PMID:33912852
NCBI chr 5:144,917,791...144,920,324
Ensembl chr 5:139,633,287...139,635,925
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Ccl20
C-C motif chemokine ligand 20
ISO
protein:decreased expression:skin
RGD
PMID:21715145
RGD:7483622
NCBI chr 9:91,837,139...91,839,736
Ensembl chr 9:84,388,904...84,391,629
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Clu
clusterin
ISO
RGD
PMID:11085517
RGD:8746700
NCBI chr15:44,336,619...44,375,861
Ensembl chr15:40,174,617...40,200,315
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Fgf10
fibroblast growth factor 10
ISO
protein:increased expression:skin (mouse)
RGD
PMID:24582960
RGD:126928134
NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:50,800,992...50,876,866
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Mir21
microRNA 21
ameliorates
ISO
RGD
PMID:21646541
RGD:41404663
NCBI chr10:71,902,600...71,902,691
Ensembl chr10:71,405,257...71,405,348
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Nrg1
neuregulin 1
ISO
DNA:hypermethylation:
RGD
PMID:31892232
RGD:39456089
NCBI chr16:65,954,084...67,007,484
Ensembl chr16:59,250,854...60,296,884
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Tlr2
toll-like receptor 2
ISO
protein:increased expression,altered expression:cytoplasm,membrane, nucleus:
RGD
PMID:24617037
RGD:8553046
NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:169,197,419...169,206,630
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Ndrg1
N-myc downstream regulated 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15341671
NCBI chr 7:100,573,526...100,614,902
Ensembl chr 7:98,684,487...98,725,880
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Nab2
Ngfi-A binding protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr 7:65,382,863...65,389,527
Ensembl chr 7:63,497,589...63,503,989
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Stat6
signal transducer and activator of transcription 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23313952 PMID:23313954
NCBI chr 7:65,365,505...65,382,825
Ensembl chr 7:63,479,642...63,498,495
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Ccnh
cyclin H
ISO
ClinVar Annotator: match by term: Parkes Weber syndrome
ClinVar
PMID:24038909 PMID:25741868 PMID:27081547 PMID:28492532 PMID:28655553 PMID:29891884 More...
NCBI chr 2:17,570,449...17,591,078
Ensembl chr 2:15,834,833...15,855,819
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Fn1
fibronectin 1
ISO
mRNA, protein:increased expression:cerebral cortex
RGD
PMID:12621118
RGD:1358624
NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:73,196,044...73,264,678
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Gnaq
G protein subunit alpha q
ISO
ClinVar Annotator: match by term: Sturge-Weber syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:23656586 PMID:25188413 PMID:25741868
NCBI chr 1:222,852,453...223,098,754
Ensembl chr 1:213,424,465...213,667,672
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Map2k1
mitogen activated protein kinase kinase 1
ISO
ClinVar Annotator: match by term: Parkes Weber syndrome
ClinVar
PMID:25741868
NCBI chr 8:73,578,747...73,650,184
Ensembl chr 8:64,683,449...64,755,147
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Mmp2
matrix metallopeptidase 2
severity
ISO
protein:increased expression:urine
RGD
PMID:23720035
RGD:13204823
NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870
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Mmp9
matrix metallopeptidase 9
severity
ISO
protein:increased expression:urine
RGD
PMID:23720035
RGD:13204823
NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
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Rasa1
RAS p21 protein activator 1
ISO
ClinVar Annotator: match by term: Parkes Weber syndrome
ClinVar
PMID:22200646 PMID:23801933 PMID:24038909 PMID:25741868 PMID:27081547 PMID:28492532 PMID:28655553 PMID:29891884 More...
NCBI chr 2:17,593,136...17,676,707
Ensembl chr 2:15,857,980...15,940,854
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Cacna1a
calcium voltage-gated channel subunit alpha1 A
ISO
ClinVar Annotator: match by term: Subependymal giant-cell astrocytoma
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:40,425,560...40,724,810
Ensembl chr19:23,520,741...23,823,225
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Tnrc6b
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 7:114,132,574...114,350,010
Ensembl chr 7:112,252,359...112,461,790
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Macf1
microtubule-actin crosslinking factor 1
ISO
ClinVar Annotator: match by term: Facial hemangioma
ClinVar
PMID:31474318
NCBI chr 5:140,908,829...141,234,127
Ensembl chr 5:135,623,742...135,945,905
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Minpp1
multiple inositol-polyphosphate phosphatase 1
ISO
ClinVar Annotator: match by term: Thyroid adenoma
ClinVar
PMID:11297621 PMID:25741868
NCBI chr 1:239,766,809...239,793,023
Ensembl chr 1:230,354,438...230,379,730
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Hras
HRas proto-oncogene, GTPase
ISO
associated with Nevus sebaceous; DNA:mutation:exon:c.37G>C (p.G13R)(human)
RGD
PMID:24890286
RGD:12738400
NCBI chr 1:205,712,625...205,729,406
Ensembl chr 1:196,296,263...196,300,615
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Gna14
G protein subunit alpha 14
ISO
ClinVar Annotator: match by term: Tufted angioma
ClinVar
PMID:25741868
NCBI chr 1:223,141,802...223,324,210
Ensembl chr 1:213,716,020...213,897,423
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Kdr
kinase insert domain receptor
ISO
ClinVar Annotator: match by term: Tufted angioma
ClinVar
PMID:25741868 PMID:26422291 PMID:28492532
NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018
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Ada
adenosine deaminase
susceptibility
ISO
DNA:polymorphisms: :
RGD
PMID:26918693
RGD:152995264
NCBI chr 3:172,818,174...172,842,283
Ensembl chr 3:152,398,747...152,447,088
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Bet1l
Bet1 golgi vesicular membrane trafficking protein-like
ISO
DNA:SNP:rs2280543(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 1:205,361,041...205,365,036
Ensembl chr 1:195,931,411...195,935,040
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Col4a1
collagen type IV alpha 1 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr16:84,885,597...84,996,482
Ensembl chr16:78,183,533...78,294,412
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Col4a2
collagen type IV alpha 2 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr16:84,749,672...84,885,520
Ensembl chr16:78,047,602...78,183,839
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Col6a3
collagen type VI alpha 3 chain
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 9:98,809,171...98,887,060
Ensembl chr 9:91,361,583...91,439,471
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Dapk1
death associated protein kinase 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr17:3,935,826...4,096,858
Ensembl chr17:3,930,213...4,090,991
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Dlx3
distal-less homeobox 3
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr10:80,561,335...80,566,730
Ensembl chr10:80,064,489...80,069,872
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Fh
fumarate hydratase
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:11865300 PMID:21398687 PMID:25741868 PMID:28492532
NCBI chr13:90,056,565...90,082,450
Ensembl chr13:87,524,337...87,550,266
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Gstm5l
glutathione S-transferase, mu 5-like
ISO
mRNA:decreased expression:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 2:198,231,285...198,238,122
Ensembl chr 2:195,544,426...195,628,961
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Hmga2
high mobility group AT-hook 2
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
NCBI chr 7:57,762,710...57,884,555
Ensembl chr 7:55,880,112...55,994,784
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Irs1
insulin receptor substrate 1
ISO
DNA:hypomethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 9:91,001,137...91,053,959
Ensembl chr 9:83,548,944...83,606,122
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Med12
mediator complex subunit 12
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:26822237
NCBI chr X:70,444,615...70,467,780
Ensembl chr X:66,404,760...66,428,387
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Ntm
neurotrimin
treatment
ISO
RGD
PMID:32033718
RGD:596948395
NCBI chr 8:35,634,929...36,625,081
Ensembl chr 8:27,377,773...28,366,595
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Nuak1
NUAK family kinase 1
ISO
DNA:hypermethylation:uterus (human)
RGD
PMID:23818951
RGD:401851920
NCBI chr 7:21,217,729...21,289,608
Ensembl chr 7:19,329,933...19,401,913
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Uterine leiomyoma
ClinVar
PMID:25741868
NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,542,877...1,607,333
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Tnrc6b
trinucleotide repeat containing adaptor 6B
severity
ISO
DNA:SNP: :rs12484776(human)
RGD
PMID:23892540
RGD:14394614
NCBI chr 7:114,132,574...114,350,010
Ensembl chr 7:112,252,359...112,461,790
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Tsc2
TSC complex subunit 2
ISS
OMIM:150699
MouseDO
NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951
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Bcl2l1
Bcl2-like 1
ISO
associated with Carcinoma, Renal Cell;protein:increased expression:uterus
RGD
PMID:16962107
RGD:1643479
NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:141,253,523...141,303,479 Ensembl chr 1:141,253,523...141,303,479
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Cldn14
claudin 14
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:23991001 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30578106
NCBI chr11:46,701,940...46,799,049
Ensembl chr11:33,232,220...33,329,171
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Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr12:24,963,174...24,988,473
Ensembl chr12:19,326,427...19,351,314
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Kat6a
lysine acetyltransferase 6A
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr16:75,787,411...75,868,584
Ensembl chr16:69,084,914...69,163,606
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Kel
Kell metallo-endopeptidase (Kell blood group)
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr 4:71,534,882...71,552,297
Ensembl chr 4:70,568,243...70,585,631
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Kmt2d
lysine methyltransferase 2D
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:28492532 PMID:30578106
NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325
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Smarca2
SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
ISO
ClinVar Annotator: match by term: Galen vein aneurysm
ClinVar
PMID:30578106
NCBI chr 1:233,617,277...233,784,908
Ensembl chr 1:224,191,125...224,358,684
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Map3k3
mitogen activated protein kinase kinase kinase 3
ISO
ClinVar Annotator: match by term: Verrucous venous malformation
ClinVar
PMID:25741868 PMID:33729480 PMID:33891857
NCBI chr10:91,519,976...91,588,651
Ensembl chr10:91,020,174...91,088,848
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Ap1b1
adaptor related protein complex 1 subunit beta 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:19968670 PMID:28492532 More...
NCBI chr14:84,093,529...84,144,835
Ensembl chr14:79,879,533...79,930,778
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Ascc2
activating signal cointegrator 1 complex subunit 2
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:83,726,975...83,771,312
Ensembl chr14:79,503,517...79,545,494
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C14h22orf31
similar to human chromosome 22 open reading frame 31
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:84,373,414...84,374,948
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Cabp7
calcium binding protein 7
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:83,822,322...83,832,667
Ensembl chr14:79,598,827...79,609,240
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Ccdc117
coiled-coil domain containing 117
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:84,614,282...84,623,648
Ensembl chr14:80,400,294...80,409,659
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Chek2
checkpoint kinase 2
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr12:51,448,838...51,481,159
Ensembl chr12:45,788,827...45,821,286
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Emid1
EMI domain containing 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:19968670 PMID:28492532 More...
NCBI chr14:84,214,530...84,257,628
Ensembl chr14:80,000,486...80,043,620
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Ewsr1
EWS RNA-binding protein 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:19968670 PMID:28492532 More...
NCBI chr14:84,179,413...84,208,149
Ensembl chr14:79,965,368...79,994,544
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Gas2l1
growth arrest-specific 2 like 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:19968670 PMID:28492532 More...
NCBI chr14:84,169,398...84,175,514
Ensembl chr14:79,950,555...79,961,438
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Hscb
HscB mitochondrial iron-sulfur cluster co-chaperone
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr12:51,481,318...51,491,689
Ensembl chr12:45,821,555...45,831,909
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Kremen1
kringle containing transmembrane protein 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:84,295,931...84,361,534
Ensembl chr14:80,084,403...80,147,516
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Mtmr3
myotubularin related protein 3
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:83,564,065...83,684,573
Ensembl chr14:79,340,513...79,461,041
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Nefh
neurofilament heavy chain
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:19968670 PMID:28492532 More...
NCBI chr14:84,044,428...84,054,413
Ensembl chr14:79,830,362...79,840,351
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Nf2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
ISO ISS
ClinVar Annotator: match by term: Bilateral vestibular schwannoma | ClinVar Annotator: match by term: Neurofibromatosis, type 2 OMIM:101000 DNA:multiple:multiple (human) CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:1479598 PMID:2543905 PMID:3313277 PMID:4000972 PMID:7535084 PMID:7666400 PMID:7711726 PMID:7759081 PMID:7868131 PMID:7913580 PMID:7951231 PMID:8012353 PMID:8081368 PMID:8230593 PMID:8379998 PMID:8557252 PMID:8566958 PMID:8698340 PMID:8751853 PMID:8755919 PMID:8757035 PMID:8797533 PMID:8882871 PMID:8889506 PMID:9391890 PMID:9425229 PMID:9430655 PMID:9466988 PMID:9536098 PMID:9605590 PMID:9643284 PMID:9718334 PMID:9817921 PMID:9817927 PMID:9884492 PMID:9931334 PMID:10220142 PMID:10691417 PMID:10712203 PMID:10777666 PMID:10896706 PMID:10970839 PMID:11085592 PMID:11129337 PMID:11448944 PMID:11535133 PMID:11668501 PMID:11756419 PMID:11779178 PMID:11809806 PMID:12118253 PMID:12136076 PMID:12217955 PMID:12566519 PMID:12695331 PMID:12807969 PMID:15598747 PMID:15609345 PMID:15635074 PMID:15645494 PMID:15684865 PMID:15692946 PMID:16009910 PMID:16199547 PMID:16509493 PMID:16532029 PMID:16983642 PMID:17222329 PMID:17330926 PMID:17576681 PMID:17607601 PMID:18033041 PMID:18173316 PMID:18406647 PMID:18554169 PMID:18670066 PMID:18766994 PMID:19234911 PMID:19249154 PMID:19451225 PMID:19924781 PMID:19968670 PMID:20445339 PMID:20553997 PMID:20831745 PMID:21294614 PMID:21563229 PMID:21671232 PMID:21906157 PMID:22012890 PMID:22081132 PMID:22295085 PMID:22325036 PMID:22703879 PMID:22711605 PMID:23196945 PMID:23348505 PMID:23354516 PMID:23921927 PMID:24030433 PMID:24033266 PMID:24309211 PMID:24595234 PMID:24728327 PMID:24815379 PMID:25326635 PMID:25525159 PMID:25567352 PMID:25631985 PMID:25640679 PMID:25741868 PMID:25798586 PMID:25893302 PMID:25931164 PMID:26031996 PMID:26045165 PMID:26066488 PMID:26073919 PMID:26332594 PMID:26343386 PMID:26407091 PMID:26467025 PMID:27128293 PMID:27600092 PMID:27704245 PMID:27930734 PMID:28365909 PMID:28492532 PMID:28526081 PMID:28737257 PMID:28873162 PMID:29316957 PMID:29409008 PMID:29489754 PMID:29625052 PMID:29641532 PMID:29685074 PMID:29761250 PMID:29781505 PMID:30250447 PMID:30306255 PMID:30553997 PMID:30594554 PMID:30833958 PMID:31024808 PMID:31089872 PMID:31273341 PMID:31370276 PMID:31567203 PMID:31712784 PMID:32373528 PMID:32724039 PMID:33058421 PMID:33067351 PMID:33606809 PMID:34273915 PMID:34285798 PMID:35264596 PMID:35449021 PMID:36451132 PMID:28365909 PMID:29409008 More...
RGD:151708708 , RGD:151708704
NCBI chr14:83,850,894...83,934,263
Ensembl chr14:79,627,399...79,710,667
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Nipsnap1
nipsnap homolog 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:19968670 PMID:28492532 More...
NCBI chr14:83,957,714...83,981,579
Ensembl chr14:79,734,209...79,758,098
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Rasl10a
RAS-like, family 10, member A
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:19968670 PMID:28492532 More...
NCBI chr14:84,169,141...84,170,519
Ensembl chr14:79,954,398...79,956,468
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Rhbdd3
rhomboid domain containing 3
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:19968670 PMID:28492532 More...
NCBI chr14:84,208,155...84,214,334
Ensembl chr14:79,994,158...80,000,175
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Smarcb1
SWI/SNF related BAF chromatin remodeling complex subunit B1
ISO
DNA, protein:multiple, mosaicism:multiple, tumor cell nuclei (human)
RGD
PMID:28365909
RGD:151708708
NCBI chr20:12,740,105...12,763,054
Ensembl chr20:12,741,477...12,763,620
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Thoc5
THO complex subunit 5
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:19968670 PMID:28492532 More...
NCBI chr14:83,982,302...84,016,193
Ensembl chr14:79,758,917...79,792,718
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Uqcr10
ubiquinol-cytochrome c reductase, complex III subunit X
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:83,789,657...83,791,914
Ensembl chr14:79,566,157...79,569,003
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:20406973 PMID:19587327
RGD:8547955 , RGD:8547957
NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641
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Xbp1
X-box binding protein 1
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:84,604,623...84,609,707
Ensembl chr14:80,390,643...80,395,693
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Zmat5
zinc finger, matrin type 5
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:83,791,005...83,823,095
Ensembl chr14:79,568,758...79,599,594
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Znrf3
zinc and ring finger 3
ISO
ClinVar Annotator: match by term: Neurofibromatosis, type 2
ClinVar
PMID:9643284 PMID:9817927 PMID:10220142 PMID:15645494 PMID:16983642 PMID:28492532 More...
NCBI chr14:84,375,668...84,527,465
Ensembl chr14:80,160,278...80,313,485
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Brk1
BRICK1 subunit of SCAR/WAVE actin nucleating complex
ISO
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar
PMID:25741868
NCBI chr 4:148,306,436...148,321,668
Ensembl chr 4:146,750,821...146,768,856
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Ccnd1
cyclin D1
susceptibility
ISO
ClinVar Annotator: match by term: VON HIPPEL-LINDAU SYNDROME, MODIFIER OF CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:10667569 PMID:11459873 PMID:12097293 PMID:23502783 PMID:24870244 PMID:25741868 More...
NCBI chr 1:209,518,288...209,527,986
Ensembl chr 1:200,089,002...200,098,602
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Epas1
endothelial PAS domain protein 1
ISO
protein:increased expression:kidney:
RGD
PMID:22299048
RGD:11041600
NCBI chr 6:13,543,252...13,626,147
Ensembl chr 6:7,790,647...7,871,228
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Irak2
interleukin-1 receptor-associated kinase 2
ISO
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar
PMID:25741868
NCBI chr 4:148,341,704...148,398,211
Ensembl chr 4:146,786,100...146,842,602
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Mmp3
matrix metallopeptidase 3
onset
ISO
RGD
PMID:19551141
RGD:7241233
NCBI chr 8:12,925,267...12,938,828
Ensembl chr 8:4,640,416...4,653,961
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Sdhb
succinate dehydrogenase complex iron sulfur subunit B
ISO
ClinVar Annotator: match by term: Von Hippel-Lindau syndrome
ClinVar
PMID:9509062 PMID:11404820 PMID:12618761 PMID:16314641 PMID:16317055 PMID:18419787 PMID:19454582 PMID:19802898 PMID:21348866 PMID:21909610 PMID:21934479 PMID:23083876 PMID:24033266 PMID:24466223 PMID:25326637 PMID:25741868 PMID:25972245 PMID:26467025 PMID:27171833 PMID:27573198 PMID:28324028 PMID:28374168 PMID:28492532 PMID:29386252 PMID:31666924 More...
NCBI chr 5:158,547,775...158,568,589
Ensembl chr 5:153,264,899...153,314,293
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Slc18a1
solute carrier family 18 member A1
ISO
mRNA:increased expression:tumor (human)
RGD
PMID:16189177
RGD:5131200
NCBI chr16:25,408,485...25,453,786
Ensembl chr16:20,653,508...20,687,051
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Vhl
von Hippel-Lindau tumor suppressor
ISO ISS
ClinVar Annotator: match by term: VHL syndrome | ClinVar Annotator: match by term: Von Hippel-Lindau | ClinVar Annotator: match by term: Von Hippel-Lindau syndrome OMIM:193300 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:982991 PMID:1056348 PMID:2362675 PMID:2844285 PMID:4843792 PMID:7553625 PMID:7563486 PMID:7591282 PMID:7604013 PMID:7728151 PMID:7759077 PMID:7784063 PMID:7915601 PMID:7977367 PMID:7987306 PMID:7987327 PMID:8069305 PMID:8069849 PMID:8187067 PMID:8239848 PMID:8270255 PMID:8493574 PMID:8522307 PMID:8550742 PMID:8592333 PMID:8634692 PMID:8641695 PMID:8641976 PMID:8707293 PMID:8730290 PMID:8772572 PMID:8825918 PMID:8825919 PMID:8863170 PMID:8956040 PMID:9058738 PMID:9067265 PMID:9143408 PMID:9156047 PMID:9209471 PMID:9215674 PMID:9329368 PMID:9398721 PMID:9399847 PMID:9435426 PMID:9447969 PMID:9452032 PMID:9452106 PMID:9536098 PMID:9663592 PMID:9671762 PMID:9681856 PMID:9681858 PMID:9751722 PMID:9770531 PMID:9829911 PMID:9829912 PMID:9880225 PMID:10088816 PMID:10102622 PMID:10205047 PMID:10326868 PMID:10340905 PMID:10364675 PMID:10408776 PMID:10458336 PMID:10533030 PMID:10563480 PMID:10567493 PMID:10570625 PMID:10581162 PMID:10587522 PMID:10612827 PMID:10627136 PMID:10697963 PMID:10761708 PMID:10766184 PMID:10823831 PMID:10862095 PMID:10878807 PMID:10900011 PMID:10955664 PMID:11058902 PMID:11106358 PMID:11114638 PMID:11148816 PMID:11160785 PMID:11171960 PMID:11257211 PMID:11309459 PMID:11331612 PMID:11331613 PMID:11409863 PMID:11483638 PMID:11505222 PMID:11536052 PMID:11688393 PMID:11688398 PMID:11709017 PMID:11739384 PMID:11835384 PMID:11865071 PMID:11896624 PMID:11921283 PMID:11986208 PMID:11987242 PMID:12000816 PMID:12004076 PMID:12050673 PMID:12056827 PMID:12081237 PMID:12097293 PMID:12114475 PMID:12114495 PMID:12202531 PMID:12393546 PMID:12414898 PMID:12415268 PMID:12500216 PMID:12510195 PMID:12538644 PMID:12603429 PMID:12624160 PMID:12629069 PMID:12702509 PMID:12807974 PMID:12844285 PMID:12853836 PMID:12912922 PMID:12944410 PMID:13985160 PMID:14500403 PMID:14556007 PMID:14604959 PMID:14636579 PMID:14691445 PMID:14722919 PMID:14726398 PMID:14767570 PMID:14965365 PMID:14973063 PMID:14987375 PMID:15109448 PMID:15177666 PMID:15300849 PMID:15574766 PMID:15607616 PMID:15611064 PMID:15642664 PMID:15642680 PMID:15881703 PMID:15918937 PMID:15921386 PMID:15932632 PMID:16142346 PMID:16199547 PMID:16210343 PMID:16261165 PMID:16314641 PMID:16452184 PMID:16488999 PMID:16502427 PMID:16505488 PMID:16572651 PMID:16585181 PMID:16595991 PMID:16669786 PMID:16775032 PMID:16809612 PMID:16847331 PMID:16868829 PMID:16884327 PMID:16952288 PMID:16969113 PMID:17001110 PMID:17024664 PMID:17060462 PMID:17102069 PMID:17102080 PMID:17102082 PMID:17102083 PMID:17102087 PMID:17102088 PMID:17159241 PMID:17264095 PMID:17350623 PMID:17392848 PMID:17407064 PMID:17526729 PMID:17576681 PMID:17640059 PMID:17661816 PMID:17688370 PMID:17700531 PMID:17898043 PMID:17906660 PMID:17919893 PMID:17922902 PMID:17967880 PMID:17992257 PMID:17997830 PMID:18067796 PMID:18195360 PMID:18205710 PMID:18209888 PMID:18446368 PMID:18544564 PMID:18551016 PMID:18567581 PMID:18580449 PMID:18584357 PMID:18676741 PMID:18685280 PMID:18836774 PMID:19009041 PMID:19029228 PMID:19030229 PMID:19096585 PMID:19215943 PMID:19228690 PMID:19252526 PMID:19258401 PMID:19270817 PMID:19280651 PMID:19293973 PMID:19304954 PMID:19309509 PMID:19333546 PMID:19336503 PMID:19408298 PMID:19464396 PMID:19494350 PMID:19574279 PMID:19576851 PMID:19602254 PMID:19620968 PMID:19694021 PMID:19734639 PMID:19755989 PMID:19763184 PMID:19764026 PMID:19808854 PMID:19906784 PMID:19949673 PMID:19958924 PMID:19996202 PMID:20034980 PMID:20054297 PMID:20064270 PMID:20120764 PMID:20151405 PMID:20223044 PMID:20233476 PMID:20300531 PMID:20351605 PMID:20388653 PMID:20447124 PMID:20518900 PMID:20560986 PMID:20567917 PMID:20583150 PMID:20660572 PMID:20844582 PMID:20846682 PMID:20850701 PMID:20855504 PMID:20952280 PMID:20978319 PMID:21204227 PMID:21258414 PMID:21362373 PMID:21384277 PMID:21386872 PMID:21389259 PMID:21449869 PMID:21454469 PMID:21461997 PMID:21463266 PMID:21519372 PMID:21606165 PMID:21685897 PMID:21713522 PMID:21715564 PMID:21784903 PMID:21791076 PMID:21876117 PMID:21972040 PMID:21993671 PMID:22071692 PMID:22105611 PMID:22105711 PMID:22136840 PMID:22145147 PMID:22156657 PMID:22234250 PMID:22241717 PMID:22265326 PMID:22357542 PMID:22393103 PMID:22438210 PMID:22462637 PMID:22517557 PMID:22566194 PMID:22649785 PMID:22683710 PMID:22703879 PMID:22799452 PMID:22825683 PMID:23015148 PMID:23036577 PMID:23070752 PMID:23102223 PMID:23143947 PMID:23224817 PMID:23255108 PMID:23298237 PMID:23315997 PMID:23318261 PMID:23327821 PMID:23384228 PMID:23397066 PMID:23403324 PMID:23434161 PMID:23512077 PMID:23538339 PMID:23541568 PMID:23606570 PMID:23626751 PMID:23660872 PMID:23673869 PMID:23772956 PMID:23788753 PMID:23840444 PMID:23842656 PMID:23845641 PMID:23859443 PMID:23968328 PMID:23990664 PMID:23990666 PMID:24002598 PMID:24033266 PMID:24055113 PMID:24102379 PMID:24112165 PMID:24115288 PMID:24132471 PMID:24134185 PMID:24147197 PMID:24166983 PMID:24206762 PMID:24301059 PMID:24335534 PMID:24339559 PMID:24446253 PMID:24466223 PMID:24518179 PMID:24555745 PMID:24581539 PMID:24583008 PMID:24678776 PMID:24707167 PMID:24727139 PMID:24728327 PMID:24729484 PMID:24779271 PMID:24969085 PMID:24977658 PMID:24986515 PMID:25078357 PMID:25081542 PMID:25119015 PMID:25282218 PMID:25310726 PMID:25326637 PMID:25371412 PMID:25390905 PMID:25405498 PMID:25557216 PMID:25562111 PMID:25563310 PMID:25583177 PMID:25586603 PMID:25637381 PMID:25683602 PMID:25715769 PMID:25720320 PMID:25741868 PMID:25773797 PMID:25825477 PMID:25867206 PMID:25885250 PMID:25952756 PMID:25966224 PMID:25985138 PMID:26206375 PMID:26211615 PMID:26228213 PMID:26268347 PMID:26308528 PMID:26323595 PMID:26332594 PMID:26467025 PMID:26484545 PMID:26503325 PMID:26580448 PMID:26622630 PMID:26681312 PMID:26763786 PMID:26822237 PMID:26845104 PMID:26846855 PMID:26920352 PMID:26933808 PMID:26934580 PMID:26957611 PMID:26973240 PMID:27034144 PMID:27051783 PMID:27057652 PMID:27146957 PMID:27179072 PMID:27311873 PMID:27439424 PMID:27498913 PMID:27517496 PMID:27527340 PMID:27530247 PMID:27539324 PMID:27617348 PMID:27651169 PMID:27730413 PMID:27785399 PMID:27811160 PMID:27930734 PMID:27966541 PMID:28043156 PMID:28052007 PMID:28202063 PMID:28235946 PMID:28349240 PMID:28379443 PMID:28388566 PMID:28432847 PMID:28454591 PMID:28469506 PMID:28492532 PMID:28503092 PMID:28643803 PMID:28650583 PMID:28721348 PMID:28724667 PMID:28775317 PMID:28781534 PMID:28849724 PMID:28873162 PMID:28944243 PMID:28951115 PMID:28973655 PMID:29022557 PMID:29124493 PMID:29294023 PMID:29437867 PMID:29510814 PMID:29595810 PMID:29607586 PMID:29616089 PMID:29625052 PMID:29662268 PMID:29684080 PMID:29748190 PMID:29749453 PMID:29758562 PMID:29789510 PMID:29790589 PMID:29871882 PMID:29891534 PMID:29946849 PMID:29949369 PMID:29978187 PMID:30006056 PMID:30042107 PMID:30093976 PMID:30105105 PMID:30185211 PMID:30194449 PMID:30278534 PMID:30338240 PMID:30522901 PMID:30877234 PMID:30890701 PMID:30898898 PMID:30900640 PMID:30902965 PMID:30943211 PMID:30946460 PMID:31034483 PMID:31087189 PMID:31132167 PMID:31149315 PMID:31159747 PMID:31278746 PMID:31337753 PMID:31350093 PMID:31368132 PMID:31383958 PMID:31397861 PMID:31447099 PMID:31528828 PMID:31538058 PMID:31568062 PMID:31620170 PMID:31666924 PMID:31779674 PMID:31980715 PMID:32106822 PMID:32238909 PMID:32671223 PMID:32742360 PMID:32869749 PMID:32982583 PMID:33004005 PMID:33033909 PMID:33151962 PMID:33219105 PMID:33362715 PMID:33370224 PMID:33397040 PMID:33618821 PMID:33720516 PMID:33745191 PMID:33777662 PMID:33840814 PMID:33938902 PMID:34036514 PMID:34109129 PMID:34122352 PMID:34416425 PMID:34439168 PMID:34439371 PMID:34566400 PMID:34571962 PMID:34628056 PMID:34654685 PMID:34926252 PMID:34994648 PMID:35008334 PMID:35032816 PMID:35142155 PMID:35220195 PMID:35281324 PMID:35441217 PMID:35448166 PMID:35466127 PMID:35475554 PMID:35495172 PMID:35505422 PMID:35524216 PMID:35668420 PMID:35734542 PMID:36175619 PMID:36384467 PMID:36480544 PMID:36515470 PMID:36625343 PMID:36715412 PMID:36744932 PMID:36813923 PMID:36936415 PMID:37273678 PMID:37405915 PMID:37529773 PMID:37937776 PMID:37979962 PMID:38020566 PMID:38332991 PMID:38595826 PMID:38969834 PMID:233722956 More...
NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
G
Cxcr4
C-X-C motif chemokine receptor 4
ISO ISS
DNA:frame shift, nonsense mutations:cds:1016_1017delCT,p.R334X,E343X(human) ClinVar Annotator: match by term: CXCR4-related condition | ClinVar Annotator: match by term: WHIM syndrome 1 OMIM:193670 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD OMIM RGD
PMID:12692554 PMID:15026312 PMID:15536153 PMID:16275383 PMID:16899028 PMID:17803866 PMID:18436740 PMID:19043667 PMID:19476565 PMID:19956569 PMID:20472031 PMID:20736454 PMID:21070597 PMID:22748845 PMID:23009155 PMID:23734232 PMID:23794067 PMID:25571909 PMID:25662009 PMID:25741868 PMID:28353164 PMID:28492532 PMID:29659363 PMID:30819232 PMID:31313072 PMID:31493092 PMID:32784523 PMID:35947323 PMID:36089616 PMID:12692554 More...
RGD:734860
NCBI chr13:42,630,383...42,634,288
Ensembl chr13:40,077,976...40,081,883
G
Tmtc4
transmembrane O-mannosyltransferase targeting cadherins 4
ISO
ClinVar Annotator: match by term: Worster-Drought syndrome
ClinVar
PMID:24375697
NCBI chr15:106,406,795...106,463,226
Ensembl chr15:100,000,152...100,056,543
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all